 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology Annotations |
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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
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Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
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InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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References - curatedReferences - uncurated| PubMed | 1703205 1760403 1900243 7545920 7693035 12477932 15896855 16884837 17968927 21315556 21873635 21880983 23533145 23750785 24457600 25921289 25940091 26186194 28065597 28514442 28515276 |
Genomics
Comparative Map Data| IGLL5 (Homo sapiens - human) |
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| Igll1 (Mus musculus - house mouse) |
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| Igll1 (Rattus norvegicus - Norway rat) |
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| LOC100523213 (Sus scrofa - pig) |
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Position Markers| G54039 |
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| GDB:452623 |
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| RH71286 |
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| RH71381 |
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| STS-X51755 |
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| STS-M34515 |
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| D22S1243 |
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| RH71287 |
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| RH71387 |
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| D22S1543 |
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| D22S1040 |
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miRNA Target Status
Predicted Target Of
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NG_000002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001178126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001256296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AA847784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AB027448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB064233 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC245028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AH003556 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ293742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ318021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ318022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ319669 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ319670 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ319671 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ698334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AM181299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC012876 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC062711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC064491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC073784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC073795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BG756003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR936629 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| D87023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ172647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ322742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ322938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ322980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ323020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589388 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589482 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589507 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589514 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589531 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF589540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF710786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF710787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF710788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF710790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF710791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF710792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JF806287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177750 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177752 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177756 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177758 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177770 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177779 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177798 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177801 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177805 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177827 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177829 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177835 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177838 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177839 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177843 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177845 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177846 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177847 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177876 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177879 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KY177881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L29158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L29159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L29160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L29161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| M34515 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| MK962887 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U86807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X57819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X57823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| Z85036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001178126 ⟹ NP_001171597 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGCCGGCTGTGGTGGGAGGCAGTTGAGCCCTGGATTGTGACCGCTTCAGGGCAGTTGGTAGATGhide sequence |
| RefSeq Acc Id: | NM_001256296 ⟹ NP_001243225 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGCCGGCTGTGGTGGGAGGCAGTTGAGCCCTGGATTGTGACCGCTTCAGGGCAGTTGGTAGATGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001171597 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001243225 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA20141 | (Get FASTA) | NCBI Sequence Viewer |
| AAA20142 | (Get FASTA) | NCBI Sequence Viewer | |
| AAA20143 | (Get FASTA) | NCBI Sequence Viewer | |
| AAA20144 | (Get FASTA) | NCBI Sequence Viewer | |
| AAA36098 | (Get FASTA) | NCBI Sequence Viewer | |
| AAA99887 | (Get FASTA) | NCBI Sequence Viewer | |
| AAB48620 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH12876 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH62711 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH64491 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH73784 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH73795 | (Get FASTA) | NCBI Sequence Viewer | |
| ABA61893 | (Get FASTA) | NCBI Sequence Viewer | |
| ABC66864 | (Get FASTA) | NCBI Sequence Viewer | |
| ABC67060 | (Get FASTA) | NCBI Sequence Viewer | |
| ABC67102 | (Get FASTA) | NCBI Sequence Viewer | |
| ABC67142 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90549 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90593 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90608 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90618 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90643 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90655 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90659 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90668 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90675 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90692 | (Get FASTA) | NCBI Sequence Viewer | |
| ABU90701 | (Get FASTA) | NCBI Sequence Viewer | |
| AEO16796 | (Get FASTA) | NCBI Sequence Viewer | |
| B9A064 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB18265 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01781 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01786 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01801 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01803 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01814 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01830 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01835 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01840 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01848 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01849 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC01861 | (Get FASTA) | NCBI Sequence Viewer | |
| CAA40956 | (Get FASTA) | NCBI Sequence Viewer | |
| CAA40960 | (Get FASTA) | NCBI Sequence Viewer | |
| CAC33571 | (Get FASTA) | NCBI Sequence Viewer | |
| CAC50882 | (Get FASTA) | NCBI Sequence Viewer | |
| CAC51026 | (Get FASTA) | NCBI Sequence Viewer | |
| CAG27374 | (Get FASTA) | NCBI Sequence Viewer | |
| CAI56772 | (Get FASTA) | NCBI Sequence Viewer | |
| CAJ57361 | (Get FASTA) | NCBI Sequence Viewer | |
| QFZ93616 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001171597 ⟸ NM_001178126 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | B9A064 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MRPKTGQVGCETPEELGPGPRQRWPLLLLGLAMVAHGLLRPMVAPQSGDPDPGASVGSSRSSLRhide sequence |
| RefSeq Acc Id: | NP_001243225 ⟸ NM_001256296 |
| - Peptide Label: | isoform 2 |
| - Sequence: |
MACCAQWLHRKAGTQTLEPQLEAADPACGACGAGQPKANPTVTLFPPSSEELQANKATLVCLIShide sequence |
Promoters| RGD ID: | 13603408 | |||||||||
| Promoter ID: | EPDNEW_H27888 | |||||||||
| Type: | initiation region | |||||||||
| Name: | IGLL5_1 | |||||||||
| Description: | immunoglobulin lambda like polypeptide 5 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 13603410 | |||||||||
| Promoter ID: | EPDNEW_H27889 | |||||||||
| Type: | initiation region | |||||||||
| Name: | IGLL5_21 | |||||||||
| Description: | immunoglobulin lambda like polypeptide 5 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 | copy number gain | Cholesteatoma [RCV000050768]|See cases [RCV000050768] | Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 | copy number gain | Hemihypertrophy [RCV000050739]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050740]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050740]|See cases [RCV000050739] | Chr22:22669543..24563859 [GRCh38] Chr22:23012013..24959827 [GRCh37] Chr22:21342013..23289827 [NCBI36] Chr22:22q11.22-11.23 |
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] | Chr22:21454661..24197852 [GRCh38] Chr22:21808950..24593820 [GRCh37] Chr22:20138950..22923820 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|See cases [RCV000053085] | Chr22:21454661..23301036 [GRCh38] Chr22:21808950..23643223 [GRCh37] Chr22:20138950..21973223 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 | copy number loss | Nonsyndromic microcephaly [RCV000053087]|See cases [RCV000053087] | Chr22:21457690..24220231 [GRCh38] Chr22:21811979..24616199 [GRCh37] Chr22:20141979..22946199 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 | copy number loss | Global developmental delay [RCV000053090]|See cases [RCV000053090] | Chr22:21562911..24307688 [GRCh38] Chr22:21917200..24703656 [GRCh37] Chr22:20247200..23033656 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]|See cases [RCV000053104] | Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 | copy number loss | Hydronephrosis [RCV000053108]|See cases [RCV000053108] | Chr22:21623411..23315617 [GRCh38] Chr22:21977700..23657804 [GRCh37] Chr22:20307700..21987804 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22651209-23299955)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053109]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053109]|See cases [RCV000053109] | Chr22:22651209..23299955 [GRCh38] Chr22:22993679..23642142 [GRCh37] Chr22:21323679..21972142 [NCBI36] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22660238-23305976)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053110]|Gastroschisis [RCV000053111]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053110]|See cases [RCV000053110] | Chr22:22660238..23305976 [GRCh38] Chr22:23002708..23648163 [GRCh37] Chr22:21332708..21978163 [NCBI36] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22686122-23315617)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053112]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053112]|See cases [RCV000053112] | Chr22:22686122..23315617 [GRCh38] Chr22:23028586..23657804 [GRCh37] Chr22:21358586..21987804 [NCBI36] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22703701-23285204)x1 | copy number loss | Stridor [RCV000053113]|See cases [RCV000053113] | Chr22:22703701..23285204 [GRCh38] Chr22:23046186..23627391 [GRCh37] Chr22:21376186..21957391 [NCBI36] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] | Chr22:20726772..23135971 [GRCh38] Chr22:21081060..23478158 [GRCh37] Chr22:19411060..21808158 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 | copy number gain | Macrocephaly [RCV000053158]|See cases [RCV000053158] | Chr22:21386914..23305976 [GRCh38] Chr22:21741203..23648163 [GRCh37] Chr22:20071203..21978163 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic|uncertain significance |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053159]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053159]|See cases [RCV000053159] | Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053161]|Global developmental delay [RCV000053162]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053161]|See cases [RCV000053161] | Chr22:22686122..24577664 [GRCh38] Chr22:23028586..24973632 [GRCh37] Chr22:21358586..23303632 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 | copy number gain | Nonsyndromic microcephaly [RCV000053163]|See cases [RCV000053163] | Chr22:22703701..24669609 [GRCh38] Chr22:23046186..25065576 [GRCh37] Chr22:21376186..23395576 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053074]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053074]|See cases [RCV000053074] | Chr22:21443815..24235645 [GRCh38] Chr22:21798104..24631613 [GRCh37] Chr22:20128104..22961613 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053075]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053075]|See cases [RCV000053075] | Chr22:21443815..23397298 [GRCh38] Chr22:21798104..23739485 [GRCh37] Chr22:20128104..22069485 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 | copy number loss | Abnormality of the heart [RCV000053077]|See cases [RCV000053077] | Chr22:21454461..24247296 [GRCh38] Chr22:21808750..24643264 [GRCh37] Chr22:20138750..22973264 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] | Chr22:21454661..24289119 [GRCh38] Chr22:21808950..24685087 [GRCh37] Chr22:20138950..23015087 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 | copy number gain | See cases [RCV000133646] | Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 | copy number gain | See cases [RCV000134730] | Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22669543-23300977)x3 | copy number gain | See cases [RCV000135338] | Chr22:22669543..23300977 [GRCh38] Chr22:23012013..23643164 [GRCh37] Chr22:21342013..21973164 [NCBI36] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 | copy number loss | See cases [RCV000135739] | Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x3 | copy number gain | See cases [RCV000136533] | Chr22:22669543..23301036 [GRCh38] Chr22:23012013..23643223 [GRCh37] Chr22:21342013..21973223 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3 | copy number gain | See cases [RCV000136060] | Chr22:22669599..24670517 [GRCh38] Chr22:23012069..25066484 [GRCh37] Chr22:21342069..23396484 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 | copy number loss | See cases [RCV000136889] | Chr22:20726972..24197852 [GRCh38] Chr22:21081260..24593820 [GRCh37] Chr22:19411260..22923820 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 | copy number loss | See cases [RCV000137685] | Chr22:21454661..24247140 [GRCh38] Chr22:21808950..24643108 [GRCh37] Chr22:20138950..22973108 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 | copy number gain | See cases [RCV000137410] | Chr22:22660239..24644628 [GRCh38] Chr22:23002709..25040595 [GRCh37] Chr22:21332709..23370595 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 | copy number gain | See cases [RCV000137926] | Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 | copy number loss | See cases [RCV000137767] | Chr22:21454661..23312035 [GRCh38] Chr22:21808950..23654222 [GRCh37] Chr22:20138950..21984222 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 | copy number gain | See cases [RCV000137795] | Chr22:22660239..24600238 [GRCh38] Chr22:23002709..24996205 [GRCh37] Chr22:21332709..23326205 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 | copy number gain | See cases [RCV000138673] | Chr22:21207181..24247140 [GRCh38] Chr22:21561470..24643108 [GRCh37] Chr22:19891470..22973108 [NCBI36] Chr22:22q11.21-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 | copy number gain | See cases [RCV000138249] | Chr22:22660239..24596054 [GRCh38] Chr22:23002709..24992021 [GRCh37] Chr22:21332709..23322021 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22669599-23312050)x1 | copy number loss | See cases [RCV000139467] | Chr22:22669599..23312050 [GRCh38] Chr22:23012069..23654237 [GRCh37] Chr22:21342069..21984237 [NCBI36] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 | copy number loss | See cases [RCV000141233] | Chr22:18339130..23480799 [GRCh38] Chr22:20279766..23822986 [GRCh37] Chr22:18659766..22152986 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 | copy number gain | See cases [RCV000141936] | Chr22:22655333..24663664 [GRCh38] Chr22:22997803..25059631 [GRCh37] Chr22:21327803..23389631 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22655458-23308687)x1 | copy number loss | See cases [RCV000142309] | Chr22:22655458..23308687 [GRCh38] Chr22:22997928..23650874 [GRCh37] Chr22:21327928..21980874 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 | copy number gain | See cases [RCV000142221] | Chr22:22655333..24630890 [GRCh38] Chr22:22997803..25026857 [GRCh37] Chr22:21327803..23356857 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22660239-23306603)x1 | copy number loss | See cases [RCV000142985] | Chr22:22660239..23306603 [GRCh38] Chr22:23002709..23648790 [GRCh37] Chr22:21332709..21978790 [NCBI36] Chr22:22q11.22-11.23 |
likely benign |
| GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x1 | copy number loss | See cases [RCV000142654] | Chr22:22669543..23301036 [GRCh38] Chr22:23012013..23643223 [GRCh37] Chr22:21342013..21973223 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22660239-23312035)x3 | copy number gain | See cases [RCV000143347] | Chr22:22660239..23312035 [GRCh38] Chr22:23002709..23654222 [GRCh37] Chr22:21332709..21984222 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 | copy number gain | See cases [RCV000143750] | Chr22:22655333..24647020 [GRCh38] Chr22:22997803..25042987 [GRCh37] Chr22:21327803..23372987 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 | copy number gain | See cases [RCV000148078] | Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 | copy number gain | See cases [RCV000148079] | Chr22:22669543..24563859 [GRCh38] Chr22:23012013..24959827 [GRCh37] Chr22:21342013..23289827 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1 | copy number loss | See cases [RCV000143461] | Chr22:22655333..23310325 [GRCh38] Chr22:22997803..23652512 [GRCh37] Chr22:21327803..21982512 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 | copy number loss | See cases [RCV000240250] | Chr22:20749625..23972878 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 | copy number loss | Premature ovarian failure [RCV000225330] | Chr22:18738296..25914592 [GRCh37] Chr22:22q11.21-12.1 |
benign |
| GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3 | copy number gain | See cases [RCV000240040] | Chr22:21400683..23654222 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 | copy number gain | See cases [RCV000239999] | Chr22:22976696..25053311 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 | copy number gain | See cases [RCV000240091] | Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22988879-24276233)x3 | copy number gain | See cases [RCV000240234] | Chr22:22988879..24276233 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 | copy number gain | See cases [RCV000240348] | Chr22:16054691..27296513 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
| GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 | copy number gain | See cases [RCV000240483] | Chr22:17264511..23238029 [GRCh37] Chr22:22q11.1-11.22 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22953514-23652512)x3 | copy number gain | See cases [RCV000449266] | Chr22:22953514..23652512 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22989304-23666474)x1 | copy number loss | See cases [RCV000454226] | Chr22:22989304..23666474 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 | copy number gain | See cases [RCV000446956] | Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1 | copy number loss | See cases [RCV000447184] | Chr22:22997802..23652512 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 | copy number gain | See cases [RCV000445706] | Chr22:22997802..25002659 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 | copy number gain | See cases [RCV000445928] | Chr22:21804562..24659578 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| NC_000022.10:g.(?_22971580)_(25041986_?)dup | duplication | Schizophrenia [RCV000416783] | Chr22:22971580..25041986 [GRCh37] Chr22:21301580..23371986 [NCBI36] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 | copy number gain | See cases [RCV000448224] | Chr22:16888899..23723805 [GRCh37] Chr22:22q11.1-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 | copy number loss | See cases [RCV000448461] | Chr22:22962196..23652512 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3 | copy number gain | See cases [RCV000510372] | Chr22:21804562..23781918 [GRCh37] Chr22:22q11.21-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 | copy number gain | See cases [RCV000510487] | Chr22:21798907..24963935 [GRCh37] Chr22:22q11.21-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-23649562)x1 | copy number loss | See cases [RCV000511560] | Chr22:22997802..23649562 [GRCh37] Chr22:22q11.22-11.23 |
likely benign |
| GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1 | copy number loss | See cases [RCV000511441] | Chr22:21798907..23666232 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 | copy number gain | See cases [RCV000511378] | Chr22:22997802..25033630 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1 | copy number loss | See cases [RCV000511686] | Chr22:22997802..23652512 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22997803-23654064)x3 | copy number gain | See cases [RCV000510917] | Chr22:22997803..23654064 [GRCh37] Chr22:22q11.22-11.23 |
likely benign |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) | copy number gain | See cases [RCV000510873] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 | copy number gain | See cases [RCV000512333] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 | copy number gain | not provided [RCV000684506] | Chr22:22951048..25156289 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1 | copy number loss | not provided [RCV000684507] | Chr22:21465661..23804835 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 | copy number loss | not provided [RCV000684518] | Chr22:21465661..24653491 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 | copy number loss | not provided [RCV000684520] | Chr22:21465661..24885806 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 | copy number loss | not provided [RCV000684515] | Chr22:20716876..23819697 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 | copy number gain | not provided [RCV000684530] | Chr22:22460754..35198232 [GRCh37] Chr22:22q11.22-12.3 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-23650873)x1 | copy number loss | not provided [RCV000684481] | Chr22:22997802..23650873 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22953514-23654007)x3 | copy number gain | not provided [RCV000684482] | Chr22:22953514..23654007 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 | copy number gain | not provided [RCV000684504] | Chr22:22945889..25059631 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 | copy number gain | not provided [RCV000846628] | Chr22:22962195..25002659 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| Single allele | duplication | Schizophrenia [RCV000754256] | Chr22:22624794..24654160 [GRCh38] Chr22:22q11.22-11.23 |
likely pathogenic |
| Single allele | deletion | Schizophrenia [RCV000754257] | Chr22:22638171..23320336 [GRCh38] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22980351-23652956)x1 | copy number loss | not provided [RCV000741810] | Chr22:22980351..23652956 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22(chr22:23009692-23246214)x3 | copy number gain | not provided [RCV000741814] | Chr22:23009692..23246214 [GRCh37] Chr22:22q11.22 |
benign |
| GRCh37/hg19 22q11.22(chr22:23027209-23247879)x3 | copy number gain | not provided [RCV000741816] | Chr22:23027209..23247879 [GRCh37] Chr22:22q11.22 |
benign |
| GRCh37/hg19 22q11.22(chr22:23056493-23242210)x0 | copy number loss | not provided [RCV000741817] | Chr22:23056493..23242210 [GRCh37] Chr22:22q11.22 |
benign |
| GRCh37/hg19 22q11.22(chr22:23071228-23247879)x3 | copy number gain | not provided [RCV000741818] | Chr22:23071228..23247879 [GRCh37] Chr22:22q11.22 |
benign |
| GRCh37/hg19 22q11.22(chr22:23100539-23244065)x0 | copy number loss | not provided [RCV000741819] | Chr22:23100539..23244065 [GRCh37] Chr22:22q11.22 |
benign |
| GRCh37/hg19 22q11.22(chr22:23100539-23247777)x0 | copy number loss | not provided [RCV000741820] | Chr22:23100539..23247777 [GRCh37] Chr22:22q11.22 |
benign |
| GRCh37/hg19 22q11.22(chr22:23111199-23259859)x0 | copy number loss | not provided [RCV000741821] | Chr22:23111199..23259859 [GRCh37] Chr22:22q11.22 |
benign |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 | copy number gain | not provided [RCV000741691] | Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 | copy number gain | not provided [RCV000741692] | Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313) | copy number loss | Chromosome 22q11.2 deletion syndrome, distal [RCV000767634] | Chr22:21797384..23630313 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674) | copy number gain | not provided [RCV000767631] | Chr22:21800032..23237674 [GRCh37] Chr22:22q11.21-11.22 |
likely pathogenic |
| GRCh37/hg19 22q11.22(chr22:22255329-23321856) | copy number gain | not provided [RCV000767632] | Chr22:22255329..23321856 [GRCh37] Chr22:22q11.22 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 | copy number gain | Global developmental delay [RCV000787284] | Chr22:22998284..25119103 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1 | copy number loss | not provided [RCV000848992] | Chr22:21922619..23654064 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1 | copy number loss | not provided [RCV000849290] | Chr22:21798906..23666232 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652512)x3 | copy number gain | not provided [RCV000848051] | Chr22:22962195..23652512 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22997928-23654007)x3 | copy number gain | 22q11.2 distal duplication syndrome [RCV000788072] | Chr22:22997928..23654007 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 | copy number gain | not provided [RCV000846344] | Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 | copy number loss | not provided [RCV000848074] | Chr22:22962196..23652512 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1 | copy number loss | not provided [RCV000848333] | Chr22:22997802..23652512 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 | copy number gain | not provided [RCV000845609] | Chr22:22962196..25145601 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 | copy number loss | not provided [RCV000847701] | Chr22:22962196..23652512 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22997928-23652512)x3 | copy number gain | not provided [RCV000848654] | Chr22:22997928..23652512 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:23004886-23757078)x3 | copy number gain | not provided [RCV000848841] | Chr22:23004886..23757078 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-23649907)x3 | copy number gain | not provided [RCV000846934] | Chr22:22997802..23649907 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1 | copy number loss | not provided [RCV000847333] | Chr22:22997802..23652512 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 | copy number gain | not provided [RCV000847639] | Chr22:22962196..25059631 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652562)x3 | copy number gain | not provided [RCV000847384] | Chr22:22962195..23652562 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 | copy number loss | not provided [RCV000847719] | Chr22:22962196..23652512 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22997928-23649052)x1 | copy number loss | not provided [RCV000848450] | Chr22:22997928..23649052 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1 | copy number loss | not provided [RCV000846294] | Chr22:21465661..23810042 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1 | copy number loss | not provided [RCV000846748] | Chr22:22962196..23652512 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:38476 | AgrOrtholog |
| COSMIC | IGLL5 | COSMIC |
| Ensembl Genes | ENSG00000254709 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000431254 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000434368 | UniProtKB/Swiss-Prot | |
| ENSP00000436353 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000526893 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000531372 | UniProtKB/Swiss-Prot | |
| ENST00000532223 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000254709 | GTEx |
| HGNC ID | HGNC:38476 | ENTREZGENE |
| Human Proteome Map | IGLL5 | Human Proteome Map |
| InterPro | Ig-like_dom | UniProtKB/Swiss-Prot |
| Ig-like_dom_sf | UniProtKB/Swiss-Prot | |
| Ig-like_fold | UniProtKB/Swiss-Prot | |
| Ig/MHC_CS | UniProtKB/Swiss-Prot | |
| Ig_C1-set | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:100423062 | UniProtKB/Swiss-Prot |
| NCBI Gene | 100423062 | ENTREZGENE |
| Pfam | C1-set | UniProtKB/Swiss-Prot |
| PharmGKB | PA165378341 | PharmGKB |
| PROSITE | IG_LIKE | UniProtKB/Swiss-Prot |
| IG_MHC | UniProtKB/Swiss-Prot | |
| SMART | IGc1 | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot |
| UniGene | Hs.449574 | ENTREZGENE |
| Hs.449585 | ENTREZGENE | |
| Hs.474325 | ENTREZGENE | |
| Hs.535668 | ENTREZGENE | |
| Hs.625768 | ENTREZGENE | |
| Hs.640434 | ENTREZGENE | |
| Hs.659929 | ENTREZGENE | |
| Hs.713252 | ENTREZGENE | |
| Hs.728722 | ENTREZGENE | |
| Hs.728758 | ENTREZGENE | |
| Hs.731137 | ENTREZGENE | |
| UniProt | A0A0B4J231_HUMAN | UniProtKB/TrEMBL |
| B9A064 | ENTREZGENE, UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-01-26 | IGLL5 | immunoglobulin lambda like polypeptide 5 | immunoglobulin lambda-like polypeptide 5 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-09-01 | IGLL5 | immunoglobulin lambda-like polypeptide 5 | IGLL5 | immunoglobulin lambda-like polypeptide 5 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on IGLL5 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 3362168 |
| Created: | 2010-07-04 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
