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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
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) |
Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| autistic disorder | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:12746398, PMID:20071347 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Experimental Liver Cirrhosis | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 8889548 10501977 10997877 11102458 12160729 12234919 12746398 14702039 15188402 16169070 16344560 17043677 17474147 19086053 19135901 19913121 20041166 20200978 20628086 22438821 22745750 22869583 23022380 23383273 23793025 25451450 26186194 26638075 27880917 28514442 29507755 29568061 29676528 30269351 |
Comparative Map Data| NBEA (Homo sapiens - human) |
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| Nbea (Mus musculus - house mouse) |
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| Nbea (Rattus norvegicus - Norway rat) |
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| Nbea (Chinchilla lanigera - long-tailed chinchilla) |
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| NBEA (Pan paniscus - bonobo/pygmy chimpanzee) |
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| NBEA (Canis lupus familiaris - dog) |
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| Nbea (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| NBEA (Sus scrofa - pig) |
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Position Markers| D13S758 |
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| RH80830 |
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| RH120191 |
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| RH118650 |
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| D13S127 |
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| SHGC-81512 |
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| AU151351 |
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| MAB21L1_8448 |
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| G19728 |
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| A001W40 |
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| G09543 |
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| T03409 |
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| Nbea |
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miRNA Target Status
| 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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Nucleotide Sequences| RefSeq Transcripts | NG_028156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001204197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_015678 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005266346 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005266347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005266348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006719803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006719805 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006719806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024449338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB046764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF072371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF467288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK001059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK091469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK122888 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK127791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK294737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK297773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK315939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL137748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL138690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL139083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL159160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL161718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL161902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL356430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL357083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL390071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BU736721 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX640760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA248291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001204197 ⟹ NP_001191126 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AATCGCCACTGGGCTCGTCACGACAGCCTCCTTCAGCTCCAACCCGGCTAATTAATCCCCACTChide sequence |
| RefSeq Acc Id: | NM_015678 ⟹ NP_056493 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_005266346 ⟹ XP_005266403 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_005266347 ⟹ XP_005266404 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_005266348 ⟹ XP_005266405 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_006719803 ⟹ XP_006719866 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_006719805 ⟹ XP_006719868 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_006719806 ⟹ XP_006719869 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_011535046 ⟹ XP_011533348 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TGAAAGCGATAGTAACACATTCAATTCATAGTGCAATTCATTCAATTGGAGGGATTCAAGTGCThide sequence |
| RefSeq Acc Id: | XM_011535047 ⟹ XP_011533349 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_017020544 ⟹ XP_016876033 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_017020545 ⟹ XP_016876034 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGhide sequence |
| RefSeq Acc Id: | XM_017020546 ⟹ XP_016876035 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTGTATTCCCTGCTTATTGAAACCAGAAATCAAGAAGGAATTCTACCTTTACCTGGAAAGCAGAhide sequence |
| RefSeq Acc Id: | XM_024449338 ⟹ XP_024305106 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AATATTCTCAGGTATTTGTGGGCCAAGACTGTTGTGGTATTCTTTATCAATAAAGGCCAAAAAGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001191126 | (Get FASTA) | NCBI Sequence Viewer |
| NP_056493 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005266403 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005266404 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005266405 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006719866 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006719868 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006719869 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533348 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533349 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016876033 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016876034 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016876035 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024305106 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAD41633 | (Get FASTA) | NCBI Sequence Viewer |
| AAM53531 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA91485 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB13370 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG52368 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG53781 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG54570 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH11865 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12663 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH14310 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB70903 | (Get FASTA) | NCBI Sequence Viewer | |
| CAE45866 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08541 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08542 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08543 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08544 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08545 | (Get FASTA) | NCBI Sequence Viewer | |
| Q8NFP9 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_056493 ⟸ NM_015678 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q8NFP9 (UniProtKB/Swiss-Prot), B3KXQ8 (UniProtKB/TrEMBL) |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | NP_001191126 ⟸ NM_001204197 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q8NFP9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MFSEIRAVFSRRYLLQNTALEVFMANRTSVMFNFPDQATVKKVVYSLPRVGVGTSYGLPQARRIhide sequence |
| RefSeq Acc Id: | XP_005266403 ⟸ XM_005266346 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | XP_005266404 ⟸ XM_005266347 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | XP_005266405 ⟸ XM_005266348 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | XP_006719869 ⟸ XM_006719806 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | Q5T321 (UniProtKB/TrEMBL) |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | XP_006719868 ⟸ XM_006719805 |
| - Peptide Label: | isoform X12 |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | XP_006719866 ⟸ XM_006719803 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | XP_011533349 ⟸ XM_011535047 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | XP_011533348 ⟸ XM_011535046 |
| - Peptide Label: | isoform X10 |
| - Sequence: |
MTVKWKQLSGELEIGKNGEKFCMAVHRILQVYCEPCNNPMHFSYCATLLAFLVELLKSSVAMQEhide sequence |
| RefSeq Acc Id: | XP_016876033 ⟸ XM_017020544 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | XP_016876034 ⟸ XM_017020545 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPShide sequence |
| RefSeq Acc Id: | XP_016876035 ⟸ XM_017020546 |
| - Peptide Label: | isoform X8 |
| - Sequence: |
MNFIIQDAESITCMTELLEHCDVTCQAEIWSMFTAILRKSVRNLQTSTEVGLIEQVLLKMSAVDhide sequence |
| RefSeq Acc Id: | XP_024305106 ⟸ XM_024449338 |
| - Peptide Label: | isoform X9 |
| - Sequence: |
MCSRQEVVCRRYRNGLKYPLYLPLYLGELEIGKNGEKFCMAVHRILQVYCEPCNNPMHFSYCAThide sequence |
Promoters| RGD ID: | 6790835 | |||||||||
| Promoter ID: | HG_KWN:17524 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid | |||||||||
| Transcripts: | ENST00000310336, ENST00000379939, ENST00000400445, ENST00000402346, NM_015678 | |||||||||
| Position: |
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| RGD ID: | 7226205 | |||||||||
| Promoter ID: | EPDNEW_H18848 | |||||||||
| Type: | initiation region | |||||||||
| Name: | NBEA_1 | |||||||||
| Description: | neurobeachin | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_015678.4(NBEA):c.295-39257G>A | single nucleotide variant | Lung cancer [RCV000097871] | Chr13:35001676 [GRCh38] Chr13:35575813 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| NM_015678.4(NBEA):c.1571+7639A>G | single nucleotide variant | Lung cancer [RCV000097872] | Chr13:35078491 [GRCh38] Chr13:35652628 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| NM_015678.4(NBEA):c.6179+5221G>A | single nucleotide variant | Lung cancer [RCV000097873] | Chr13:35357544 [GRCh38] Chr13:35931681 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| NM_015678.4(NBEA):c.7450-8707G>T | single nucleotide variant | Lung cancer [RCV000097874] | Chr13:35619374 [GRCh38] Chr13:36193511 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 | copy number gain | Scoliosis [RCV000050293]|See cases [RCV000050293] | Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
| GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|See cases [RCV000051373] | Chr13:30697728..69471973 [GRCh38] Chr13:31271865..70046105 [GRCh37] Chr13:30169865..68944106 [NCBI36] Chr13:13q12.3-21.33 |
pathogenic |
| GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1 | copy number loss | Global developmental delay [RCV000051375]|See cases [RCV000051375] | Chr13:35232476..41375955 [GRCh38] Chr13:35806613..41950091 [GRCh37] Chr13:34704613..40848091 [NCBI36] Chr13:13q13.3-14.11 |
pathogenic |
| GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3 | copy number gain | Hemifacial hyperplasia [RCV000052004]|See cases [RCV000052004] | Chr13:33754469..36942137 [GRCh38] Chr13:34328606..37516274 [GRCh37] Chr13:33226606..36414274 [NCBI36] Chr13:13q13.2-13.3 |
uncertain significance |
| GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|See cases [RCV000053726] | Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|See cases [RCV000053731] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053737]|See cases [RCV000053737] | Chr13:30318913..83610426 [GRCh38] Chr13:30893050..84184561 [GRCh37] Chr13:29791050..83082562 [NCBI36] Chr13:13q12.3-31.1 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|See cases [RCV000053719] | Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 | copy number gain | Intellectual functioning disability [RCV000053721]|See cases [RCV000053721] | Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 | copy number gain | Premature Birth [RCV000053723]|See cases [RCV000053723] | Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]|See cases [RCV000053759] | Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34 |
pathogenic |
| NM_015678.4(NBEA):c.434G>A (p.Arg145Gln) | single nucleotide variant | Malignant melanoma [RCV000070345] | Chr13:35041072 [GRCh38] Chr13:35615209 [GRCh37] Chr13:34513209 [NCBI36] Chr13:13q13.3 |
not provided |
| NM_015678.4(NBEA):c.1786G>A (p.Asp596Asn) | single nucleotide variant | Malignant melanoma [RCV000070346] | Chr13:35109395 [GRCh38] Chr13:35683532 [GRCh37] Chr13:34581532 [NCBI36] Chr13:13q13.3 |
not provided |
| NM_015678.4(NBEA):c.8840G>A (p.Ter2947=) | single nucleotide variant | Malignant melanoma [RCV000070347] | Chr13:35670990 [GRCh38] Chr13:36245127 [GRCh37] Chr13:35143127 [NCBI36] Chr13:13q13.3 |
not provided |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 | copy number gain | See cases [RCV000135808] | Chr13:31553608..65470367 [GRCh38] Chr13:32127745..66044499 [GRCh37] Chr13:31025745..64942500 [NCBI36] Chr13:13q12.3-21.32 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 | copy number gain | See cases [RCV000137892] | Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11 |
pathogenic |
| GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1 | copy number loss | See cases [RCV000137923] | Chr13:29073320..36556014 [GRCh38] Chr13:29647457..37130151 [GRCh37] Chr13:28545457..36028151 [NCBI36] Chr13:13q12.3-13.3 |
pathogenic |
| GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 | copy number loss | See cases [RCV000138723] | Chr13:31018160..48491204 [GRCh38] Chr13:31592297..49065340 [GRCh37] Chr13:30490297..47963341 [NCBI36] Chr13:13q12.3-14.2 |
pathogenic |
| GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 | copy number gain | See cases [RCV000138339] | Chr13:32531486..86757044 [GRCh38] Chr13:33105623..87409299 [GRCh37] Chr13:32003623..86207300 [NCBI36] Chr13:13q13.1-31.1 |
pathogenic |
| GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1 | copy number loss | See cases [RCV000139225] | Chr13:30313809..39267681 [GRCh38] Chr13:30887946..39841818 [GRCh37] Chr13:29785946..38739818 [NCBI36] Chr13:13q12.3-13.3 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 | copy number gain | See cases [RCV000139078] | Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 | copy number gain | See cases [RCV000140004] | Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q13.2-13.3(chr13:34151122-35159055)x1 | copy number loss | See cases [RCV000141615] | Chr13:34151122..35159055 [GRCh38] Chr13:34725259..35733192 [GRCh37] Chr13:33623259..34631192 [NCBI36] Chr13:13q13.2-13.3 |
uncertain significance |
| GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3 | copy number gain | See cases [RCV000142869] | Chr13:29321454..36995348 [GRCh38] Chr13:29895591..37569485 [GRCh37] Chr13:28793591..36467485 [NCBI36] Chr13:13q12.3-13.3 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 | copy number gain | See cases [RCV000142924] | Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 | copy number gain | See cases [RCV000143462] | Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 | copy number gain | See cases [RCV000148244] | Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000148126] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
| NM_015678.4(NBEA):c.2836C>T (p.His946Tyr) | single nucleotide variant | not specified [RCV000209938] | Chr13:35157262 [GRCh38] Chr13:35731399 [GRCh37] Chr13:13q13.3 |
likely pathogenic|uncertain significance |
| NM_015678.4(NBEA):c.6637C>T (p.Arg2213Ter) | single nucleotide variant | Seizures [RCV000224971]|not specified [RCV000224971] | Chr13:35550528 [GRCh38] Chr13:36124665 [GRCh37] Chr13:13q13.3 |
likely pathogenic|uncertain significance |
| NM_015678.4(NBEA):c.3899A>C (p.Asp1300Ala) | single nucleotide variant | not specified [RCV000238678] | Chr13:35161787 [GRCh38] Chr13:35735924 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| NM_015678.4(NBEA):c.6656G>A (p.Arg2219His) | single nucleotide variant | not provided [RCV000732823] | Chr13:35550547 [GRCh38] Chr13:36124684 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1 | copy number loss | See cases [RCV000449219] | Chr13:36064105..39230796 [GRCh37] Chr13:13q13.3 |
likely pathogenic |
| GRCh37/hg19 13q13.3(chr13:35531798-39607778)x1 | copy number loss | See cases [RCV000449245] | Chr13:35531798..39607778 [GRCh37] Chr13:13q13.3 |
likely pathogenic |
| GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 | copy number loss | See cases [RCV000446067] | Chr13:32946120..62698217 [GRCh37] Chr13:13q13.1-21.31 |
pathogenic |
| GRCh37/hg19 13q13.3(chr13:35757546-36398671)x1 | copy number loss | See cases [RCV000445987] | Chr13:35757546..36398671 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | See cases [RCV000445886] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 | copy number gain | not provided [RCV000683572] | Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1 |
pathogenic |
| Single allele | deletion | Autistic disorder of childhood onset [RCV000754144] | Chr13:35060502..35507109 [GRCh38] Chr13:13q13.3 |
likely pathogenic |
| Single allele | deletion | Autistic disorder of childhood onset [RCV000754143] | Chr13:35011654..35113567 [GRCh38] Chr13:13q13.3 |
likely pathogenic |
| GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 | copy number gain | not provided [RCV000738115] | Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q13.3(chr13:35625130-35876714)x3 | copy number gain | not provided [RCV000738162] | Chr13:35625130..35876714 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35625130-36041821)x3 | copy number gain | not provided [RCV000738163] | Chr13:35625130..36041821 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35625130-36063553)x3 | copy number gain | not provided [RCV000738164] | Chr13:35625130..36063553 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35626351-35684856)x3 | copy number gain | not provided [RCV000738165] | Chr13:35626351..35684856 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:36041311-36058611)x3 | copy number gain | not provided [RCV000738166] | Chr13:36041311..36058611 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 | copy number gain | not provided [RCV000750643] | Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q13.2-13.3(chr13:35431389-36115787)x3 | copy number gain | not provided [RCV000750679] | Chr13:35431389..36115787 [GRCh37] Chr13:13q13.2-13.3 |
benign |
| GRCh37/hg19 13q13.2-13.3(chr13:35473956-36173485)x3 | copy number gain | not provided [RCV000750680] | Chr13:35473956..36173485 [GRCh37] Chr13:13q13.2-13.3 |
benign |
| GRCh37/hg19 13q13.2-13.3(chr13:35493285-36155201)x3 | copy number gain | not provided [RCV000750681] | Chr13:35493285..36155201 [GRCh37] Chr13:13q13.2-13.3 |
benign |
| GRCh37/hg19 13q13.2-13.3(chr13:35493285-36228450)x3 | copy number gain | not provided [RCV000750682] | Chr13:35493285..36228450 [GRCh37] Chr13:13q13.2-13.3 |
benign |
| GRCh37/hg19 13q13.2-13.3(chr13:35493951-35563140)x3 | copy number gain | not provided [RCV000750683] | Chr13:35493951..35563140 [GRCh37] Chr13:13q13.2-13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35563191-35601198)x1 | copy number loss | not provided [RCV000750684] | Chr13:35563191..35601198 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35603527-36058611)x3 | copy number gain | not provided [RCV000750685] | Chr13:35603527..36058611 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35603879-36129661)x3 | copy number gain | not provided [RCV000750686] | Chr13:35603879..36129661 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35621922-35683086)x3 | copy number gain | not provided [RCV000750687] | Chr13:35621922..35683086 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35622661-35708232)x3 | copy number gain | not provided [RCV000750688] | Chr13:35622661..35708232 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35622661-35789683)x3 | copy number gain | not provided [RCV000750689] | Chr13:35622661..35789683 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35625130-35684856)x3 | copy number gain | not provided [RCV000750690] | Chr13:35625130..35684856 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35625130-35688145)x3 | copy number gain | not provided [RCV000750691] | Chr13:35625130..35688145 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35625130-35708232)x3 | copy number gain | not provided [RCV000750692] | Chr13:35625130..35708232 [GRCh37] Chr13:13q13.3 |
benign |
| GRCh37/hg19 13q13.3(chr13:35625130-35868397)x3 | copy number gain | not provided [RCV000750693] | Chr13:35625130..35868397 [GRCh37] Chr13:13q13.3 |
benign |
| NM_005584.5(MAB21L1):c.698A>C (p.Gln233Pro) AND CEREBELLAR, OCULAR, CRANIOFACIAL, | single nucleotide variant | CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME [RCV000785787] | Chr13:35475441 [GRCh38] Chr13:36049578 [GRCh37] Chr13:13q13.3 |
pathogenic |
| NM_005584.5(MAB21L1):c.841del (p.Glu281fs) AND CEREBELLAR, OCULAR, CRANIOFACIAL, | deletion | CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME [RCV000785786] | Chr13:35475298 [GRCh38] Chr13:36049435 [GRCh37] Chr13:13q13.3 |
pathogenic |
| NM_005584.5(MAB21L1):c.735dup (p.Cys246fs) AND CEREBELLAR, OCULAR, CRANIOFACIAL, | duplication | CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME [RCV000785783] | Chr13:35475404 [GRCh38] Chr13:36049541 [GRCh37] Chr13:13q13.3 |
pathogenic |
| NM_005584.5(MAB21L1):c.859del (p.Arg287fs) AND CEREBELLAR, OCULAR, CRANIOFACIAL, | deletion | CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME [RCV000785785] | Chr13:35475280 [GRCh38] Chr13:36049417 [GRCh37] Chr13:13q13.3 |
pathogenic |
| NM_005584.5(MAB21L1):c.840C>G (p.Tyr280Ter) AND CEREBELLAR, OCULAR, CRANIOFACIAL, | single nucleotide variant | CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME [RCV000785784] | Chr13:35475299 [GRCh38] Chr13:36049436 [GRCh37] Chr13:13q13.3 |
pathogenic |
| NM_015678.4(NBEA):c.5899G>A (p.Gly1967Arg) | single nucleotide variant | NBEA-related developmental delay and generalized epilepsy [RCV000787957] | Chr13:35309588 [GRCh38] Chr13:35883725 [GRCh37] Chr13:13q13.3 |
likely pathogenic |
| GRCh37/hg19 13q13.3(chr13:36123288-36218393)x3 | copy number gain | not provided [RCV000848357] | Chr13:36123288..36218393 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| GRCh37/hg19 13q13.3(chr13:36158924-36398671)x3 | copy number gain | not provided [RCV000849999] | Chr13:36158924..36398671 [GRCh37] Chr13:13q13.3 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:7648 | AgrOrtholog |
| COSMIC | NBEA | COSMIC |
| Ensembl Genes | ENSG00000172915 | ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Protein | ENSP00000308534 | UniProtKB/TrEMBL |
| ENSP00000369271 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000383295 | ENTREZGENE | |
| ENSP00000440233 | ENTREZGENE | |
| ENSP00000486239 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000310336 | UniProtKB/TrEMBL |
| ENST00000379939 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000400445 | ENTREZGENE | |
| ENST00000537702 | ENTREZGENE | |
| ENST00000629018 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.10.1540.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000172915 | GTEx |
| HGNC ID | HGNC:7648 | ENTREZGENE |
| Human Proteome Map | NBEA | Human Proteome Map |
| InterPro | ARM-type_fold | UniProtKB/Swiss-Prot |
| BEACH_dom | UniProtKB/Swiss-Prot | |
| BEACH_dom_sf | UniProtKB/Swiss-Prot | |
| ConA-like_subgrp | UniProtKB/Swiss-Prot | |
| DUF1088 | UniProtKB/Swiss-Prot | |
| DUF4704 | UniProtKB/Swiss-Prot | |
| PH-BEACH_dom | UniProtKB/Swiss-Prot | |
| WD40_repeat | UniProtKB/Swiss-Prot | |
| WD40_repeat_dom | UniProtKB/Swiss-Prot | |
| WD40_repeat_dom_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:26960 | UniProtKB/Swiss-Prot |
| NCBI Gene | 26960 | ENTREZGENE |
| OMIM | 604889 | OMIM |
| Pfam | Beach | UniProtKB/Swiss-Prot |
| DUF1088 | UniProtKB/Swiss-Prot | |
| DUF4704 | UniProtKB/Swiss-Prot | |
| PH_BEACH | UniProtKB/Swiss-Prot | |
| PharmGKB | PA31454 | PharmGKB |
| PROSITE | BEACH | UniProtKB/Swiss-Prot |
| PH_BEACH | UniProtKB/Swiss-Prot | |
| WD_REPEATS_REGION | UniProtKB/Swiss-Prot | |
| SMART | Beach | UniProtKB/Swiss-Prot |
| WD40 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | ARM-type_fold | UniProtKB/Swiss-Prot |
| Beige_BEACH | UniProtKB/Swiss-Prot | |
| ConA_like_lec_gl | UniProtKB/Swiss-Prot | |
| WD40_like | UniProtKB/Swiss-Prot | |
| UniGene | Hs.491172 | ENTREZGENE |
| UniProt | A0A0D9SF28_HUMAN | UniProtKB/TrEMBL |
| B3KXQ8 | ENTREZGENE, UniProtKB/TrEMBL | |
| F5GXV7_HUMAN | UniProtKB/TrEMBL | |
| NBEA_HUMAN | UniProtKB/Swiss-Prot | |
| Q5T321 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q8NFP9 | ENTREZGENE | |
| UniProt Secondary | B7Z2H9 | UniProtKB/Swiss-Prot |
| Q5T320 | UniProtKB/Swiss-Prot | |
| Q9HCM8 | UniProtKB/Swiss-Prot | |
| Q9NSU1 | UniProtKB/Swiss-Prot | |
| Q9NW98 | UniProtKB/Swiss-Prot | |
| Q9Y6J1 | UniProtKB/Swiss-Prot |
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| More on NBEA | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1323716 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
