 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology Annotations |
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Analyze GeneStrainQTL List |
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Gene Annotator (Annotation Comparison) |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsDisease AnnotationsGene-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 - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 10591208 11262395 11381032 12477932 12527362 14702039 15146197 15461802 15489334 16189266 16189514 16344560 17081983 17360363 17974005 18519826 18669648 19064571 19643727 20068093 20109966 20179162 20237496 20379614 20713527 20855536 20877624 21832049 21873635 22921587 24706805 25416956 25910212 26146385 26514267 26871637 27348811 28514442 29507755 29568061 30194290 |
Genomics
Comparative Map Data| BCL2L13 (Homo sapiens - human) |
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| Bcl2l13 (Mus musculus - house mouse) |
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| Bcl2l13 (Rattus norvegicus - Norway rat) |
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| Bcl2l13 (Chinchilla lanigera - long-tailed chinchilla) |
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| BCL2L13 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| BCL2L13 (Canis lupus familiaris - dog) |
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| Bcl2l13 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| BCL2L13 (Sus scrofa - pig) |
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Position Markers| D22S1246 |
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| RH103990 |
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| G65560 |
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| RH48192 |
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| A010A02 |
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| G33035 |
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| RH11337 |
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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 | NM_001270726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001270727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270731 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001270735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001363824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_015367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_073068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_073069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011546119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011546120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011546121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011546123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017028725 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017028726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017028727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017028728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017028729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017028730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017028731 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017028732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017028734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001755196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC006285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF086412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF146568 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF183411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF246665 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF325209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF539453 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK027443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK056248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK075044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK291449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK294286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK301394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK314489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL133029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL831982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC003032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC007658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC016037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BE900458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BI560132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX354578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX407004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CN420914 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR456521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA154984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA169152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA478149 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA799358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC341613 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001270726 ⟹ NP_001257655 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NM_001270727 ⟹ NP_001257656 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NM_001270728 ⟹ NP_001257657 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NM_001270729 ⟹ NP_001257658 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NM_001270730 ⟹ NP_001257659 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NM_001270731 ⟹ NP_001257660 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NM_001270732 ⟹ NP_001257661 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NM_001270733 ⟹ NP_001257662 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
TTTTATTTGCCCTGCAGCCCGGTGAGGGCACAGACTGGTTCATGTGCTGTGATTCTCCCTGAGThide sequence |
| RefSeq Acc Id: | NM_001270734 ⟹ NP_001257663 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NM_001270735 ⟹ NP_001257664 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NM_001363824 ⟹ NP_001350753 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_015367 ⟹ NP_056182 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCThide sequence |
| RefSeq Acc Id: | NR_073068 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | NON-CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GTTTTACACATCCATAAGTAGACCTTTTTGGAGCCTCACCAGCCAATTCAATGGCGTCCTCTTChide sequence |
| RefSeq Acc Id: | NR_073069 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | NON-CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GTTTTACACATCCATAAGTAGACCTTTTTGGAGCCTCACCAGCCAATTCAATGGCGTCCTCTTChide sequence |
| RefSeq Acc Id: | XM_011546119 ⟹ XP_011544421 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCTGTGGGCGCGTCCTCGGGTCCTTCTACGTCGCTGACTCGTGACCTGACCGATACCTTCCGAThide sequence |
| RefSeq Acc Id: | XM_011546120 ⟹ XP_011544422 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TACGTCGCTGACTCGTGACCTGACCGGTATTTTTTTCCTAAACTGGGATCTTGGATACCTTCCGhide sequence |
| RefSeq Acc Id: | XM_011546121 ⟹ XP_011544423 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCTGTGGGCGCGTCCTCGGGTCCTTCTACGTCGCTGACTCGTGACCTGACCGATACCTTCCGAThide sequence |
| RefSeq Acc Id: | XM_011546123 ⟹ XP_011544425 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACCCTCCAACATGGCGGCGGCGGTAGATTAGGGCCGCGGGTCGGAGCACTCACCGCCGCTGGGGhide sequence |
| RefSeq Acc Id: | XM_017028725 ⟹ XP_016884214 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCTGTGGGCGCGTCCTCGGGTCCTTCTACGTCGCTGACTCGTGACCTGACCGATACCTTCCGAThide sequence |
| RefSeq Acc Id: | XM_017028726 ⟹ XP_016884215 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCTGTGGGCGCGTCCTCGGGTCCTTCTACGTCGCTGACTCGTGACCTGACCGATACCTTCCGAThide sequence |
| RefSeq Acc Id: | XM_017028727 ⟹ XP_016884216 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACCCTCCAACATGGCGGCGGCGGTAGATTAGGGCCGCGGGTCGGAGCACTCACCGCCGCTGGGGhide sequence |
| RefSeq Acc Id: | XM_017028728 ⟹ XP_016884217 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCTGTGGGCGCGTCCTCGGGTCCTTCTACGTCGCTGACTCGTGACCTGACCGATACCTTCCGAThide sequence |
| RefSeq Acc Id: | XM_017028729 ⟹ XP_016884218 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACCCTCCAACATGGCGGCGGCGGTAGATTAGGGCCGCGGGTCGGAGCACTCACCGCCGCTGGGGhide sequence |
| RefSeq Acc Id: | XM_017028730 ⟹ XP_016884219 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACCCTCCAACATGGCGGCGGCGGTAGATTAGGGCCGCGGGTCGGAGCACTCACCGCCGCTGGGGhide sequence |
| RefSeq Acc Id: | XM_017028731 ⟹ XP_016884220 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCTGTGGGCGCGTCCTCGGGTCCTTCTACGTCGCTGACTCGTGACCTGACCGATACCTTCCGAThide sequence |
| RefSeq Acc Id: | XM_017028732 ⟹ XP_016884221 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGGCACGCCGGGGTGACCTCACCCTCCAACATGGCGGCGGCGGTAGATTAGGGCCGCGGGTCGGhide sequence |
| RefSeq Acc Id: | XM_017028734 ⟹ XP_016884223 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
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| Sequence: |
CCTGTGGGCGCGTCCTCGGGTCCTTCTACGTCGCTGACTCGTGACCTGACCGATACCTTCCGAThide sequence |
| RefSeq Acc Id: | XR_001755196 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
CCTGTGGGCGCGTCCTCGGGTCCTTCTACGTCGCTGACTCGTGACCTGACCGATACCTTCCGAThide sequence |
Protein Sequences| Protein RefSeqs | NP_001257655 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001257656 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257657 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257658 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257659 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257660 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257661 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257662 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257663 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001257664 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001350753 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_056182 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011544421 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011544422 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011544423 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011544425 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884214 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884215 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884216 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884217 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884218 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884219 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884220 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884221 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884223 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF03602 | (Get FASTA) | NCBI Sequence Viewer |
| AAG09680 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH07658 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH16037 | (Get FASTA) | NCBI Sequence Viewer | |
| AAK15150 | (Get FASTA) | NCBI Sequence Viewer | |
| AAK27358 | (Get FASTA) | NCBI Sequence Viewer | |
| AAN10130 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF84138 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG37090 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG51659 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH11724 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH13473 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB61361 | (Get FASTA) | NCBI Sequence Viewer | |
| CAD89976 | (Get FASTA) | NCBI Sequence Viewer | |
| CAG30407 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW57766 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW57767 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW57768 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9BXK5 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_056182 ⟸ NM_015367 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQGVQLDIASQSLDQEILLKVKTEIEhide sequence |
| RefSeq Acc Id: | NP_001257660 ⟸ NM_001270731 |
| - Peptide Label: | isoform e |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEEEEYPGITAEDSNDIYIhide sequence |
| RefSeq Acc Id: | NP_001257663 ⟸ NM_001270734 |
| - Peptide Label: | isoform h |
| - UniProtKB: | A8K5Y4 (UniProtKB/TrEMBL), E9PDD6 (UniProtKB/TrEMBL), Q86T62 (UniProtKB/TrEMBL) |
| - Sequence: |
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQGVQLDIASQSLDQEILLKVKTEIEhide sequence |
| RefSeq Acc Id: | NP_001257658 ⟸ NM_001270729 |
| - Peptide Label: | isoform e |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEEEEYPGITAEDSNDIYIhide sequence |
| RefSeq Acc Id: | NP_001257661 ⟸ NM_001270732 |
| - Peptide Label: | isoform f |
| - UniProtKB: | A0A0A0MR90 (UniProtKB/TrEMBL), A8K5Y4 (UniProtKB/TrEMBL) |
| - Sequence: |
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQGVQLDIASQSLDQEILLKVKTEIEhide sequence |
| RefSeq Acc Id: | NP_001257664 ⟸ NM_001270735 |
| - Peptide Label: | isoform i |
| - UniProtKB: | A0A087WW80 (UniProtKB/TrEMBL) |
| - Sequence: |
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQGVQLDIASQSLDQEILLKVKTEIEhide sequence |
| RefSeq Acc Id: | NP_001257657 ⟸ NM_001270728 |
| - Peptide Label: | isoform d |
| - UniProtKB: | B7Z238 (UniProtKB/TrEMBL), F6VJB4 (UniProtKB/TrEMBL) |
| - Sequence: |
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQDFGASGFATTNAFGIDKTWSRTFEhide sequence |
| RefSeq Acc Id: | NP_001257655 ⟸ NM_001270726 |
| - Peptide Label: | isoform b |
| - UniProtKB: | A0A087WX97 (UniProtKB/TrEMBL) |
| - Sequence: |
MSGSSGPAPTPAVTKARRGDLTLQHGGGGRLGPRVGALTAAGGPCRKQLPPPPLSSLLGQGPGPhide sequence |
| RefSeq Acc Id: | NP_001257656 ⟸ NM_001270727 |
| - Peptide Label: | isoform c |
| - UniProtKB: | A0A087WTL4 (UniProtKB/TrEMBL) |
| - Sequence: |
MSGSSGPAPTPAVTKARRGDLTLQHGGGGRLGPRVGALTAAGGPCRKQLPPPPLSSLLGQGPGPhide sequence |
| RefSeq Acc Id: | NP_001257659 ⟸ NM_001270730 |
| - Peptide Label: | isoform e |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEEEEYPGITAEDSNDIYIhide sequence |
| RefSeq Acc Id: | NP_001257662 ⟸ NM_001270733 |
| - Peptide Label: | isoform g |
| - UniProtKB: | B7Z737 (UniProtKB/TrEMBL) |
| - Sequence: |
MDPEEVKSLDSNGAGEKSENNSSNSDIVHVEKEEVPEGMEEAAVASVVLPARELQEALPEAPAPhide sequence |
| RefSeq Acc Id: | XP_011544421 ⟸ XM_011546119 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A087WX97 (UniProtKB/TrEMBL) |
| - Sequence: |
MSGSSGPAPTPAVTKARRGDLTLQHGGGGRLGPRVGALTAAGGPCRKQLPPPPLSSLLGQGPGPhide sequence |
| RefSeq Acc Id: | XP_011544422 ⟸ XM_011546120 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A087WX97 (UniProtKB/TrEMBL) |
| - Sequence: |
MSGSSGPAPTPAVTKARRGDLTLQHGGGGRLGPRVGALTAAGGPCRKQLPPPPLSSLLGQGPGPhide sequence |
| RefSeq Acc Id: | XP_011544423 ⟸ XM_011546121 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQGVQLDIASQSLDQEILLKVKTEIEhide sequence |
| RefSeq Acc Id: | XP_011544425 ⟸ XM_011546123 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MDPEEVKSLDSNGAGEKSENNSSNSDIVHVEKEEVPEGMEEAAVASVVLPARELQEALPEAPAPhide sequence |
| RefSeq Acc Id: | XP_016884215 ⟸ XM_017028726 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | B2RB43 (UniProtKB/TrEMBL) |
| - Sequence: |
MEDCLAHLGEKVSQELKEPLHKALQMLLSQPVTYQAFRECTLETTVHASGWNKILVPLVLLRQMhide sequence |
| RefSeq Acc Id: | XP_016884217 ⟸ XM_017028728 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEEEEYPGITAEDSNDIYIhide sequence |
| RefSeq Acc Id: | XP_016884223 ⟸ XM_017028734 |
| - Peptide Label: | isoform X9 |
| - UniProtKB: | A0A0A0MR90 (UniProtKB/TrEMBL) |
| - Sequence: |
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQGVQLDIASQSLDQEILLKVKTEIEhide sequence |
| RefSeq Acc Id: | XP_016884214 ⟸ XM_017028725 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | A0A087WTL4 (UniProtKB/TrEMBL) |
| - Sequence: |
MSGSSGPAPTPAVTKARRGDLTLQHGGGGRLGPRVGALTAAGGPCRKQLPPPPLSSLLGQGPGPhide sequence |
| RefSeq Acc Id: | XP_016884220 ⟸ XM_017028731 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEEEEYPGITAEDSNDIYIhide sequence |
| RefSeq Acc Id: | XP_016884221 ⟸ XM_017028732 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEEEEYPGITAEDSNDIYIhide sequence |
| RefSeq Acc Id: | XP_016884216 ⟸ XM_017028727 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MEDCLAHLGEKVSQELKEPLHKALQMLLSQPVTYQAFRECTLETTVHASGWNKGTVFSLESEEEhide sequence |
| RefSeq Acc Id: | XP_016884218 ⟸ XM_017028729 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEEEEYPGITAEDSNDIYIhide sequence |
| RefSeq Acc Id: | XP_016884219 ⟸ XM_017028730 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | Q9BXK5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLLELTRRGQEPLSALLQFGVTYLEDYSAEYIIQQGGWGTVFSLESEEEEYPGITAEDSNDIYIhide sequence |
| RefSeq Acc Id: | NP_001350753 ⟸ NM_001363824 |
| - Peptide Label: | isoform j |
Promoters| RGD ID: | 6799689 | |||||||||
| Promoter ID: | HG_KWN:41444 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000253413, ENST00000399781, ENST00000399796, ENST00000399798, OTTHUMT00000316221, OTTHUMT00000316222, OTTHUMT00000316223, UC002ZMU.1 | |||||||||
| Position: |
|
| RGD ID: | 6799708 | |||||||||
| Promoter ID: | HG_KWN:41445 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000337612, OTTHUMT00000316184, OTTHUMT00000316188, OTTHUMT00000316192, UC002ZMV.1, UC002ZMX.1, UC010GQY.1 | |||||||||
| Position: |
|
| RGD ID: | 6799691 | |||||||||
| Promoter ID: | HG_KWN:41449 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3, Jurkat, Lymphoblastoid | |||||||||
| Transcripts: | UC002ZNA.1 | |||||||||
| Position: |
|
| RGD ID: | 13603134 | |||||||||
| Promoter ID: | EPDNEW_H27751 | |||||||||
| Type: | initiation region | |||||||||
| Name: | BCL2L13_2 | |||||||||
| Description: | BCL2 like 13 | |||||||||
| 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: | 13603136 | |||||||||
| Promoter ID: | EPDNEW_H27752 | |||||||||
| Type: | initiation region | |||||||||
| Name: | BCL2L13_1 | |||||||||
| Description: | BCL2 like 13 | |||||||||
| 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 22q11.1-11.21(chr22:16916608-20324240)x3 | copy number gain | Pneumonia [RCV000050858]|See cases [RCV000050858] | Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050859]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050859]|See cases [RCV000050859] | Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 | copy number gain | Failure to thrive [RCV000050614]|See cases [RCV000050614] | Chr22:16916608..21151128 [GRCh38] Chr22:17397498..21505417 [GRCh37] Chr22:15777498..19835417 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1 | copy number loss | Global developmental delay [RCV000051270]|See cases [RCV000051270] | Chr22:16538125..20363937 [GRCh38] Chr22:17019015..20718227 [GRCh37] Chr22:15399015..19048227 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051127]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051127]|See cases [RCV000051127] | Chr22:16916608..18718532 [GRCh38] Chr22:17397498..18706045 [GRCh37] Chr22:15777498..17086045 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3 | copy number gain | Macrocephaly [RCV000051917]|See cases [RCV000051917] | Chr22:16578056..18134332 [GRCh38] Chr22:17058946..18617099 [GRCh37] Chr22:15438946..16997099 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3 | copy number gain | Abnormality of the heart [RCV000053100]|See cases [RCV000053100] | Chr22:11121452..18167952 [GRCh38] Chr22:16230024..18650719 [GRCh37] Chr22:14610024..17030719 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] | Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20402677 [GRCh37] Chr22:15777498..18782677 [NCBI36] Chr22:22q11.1-11.21 |
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 22q11.1-13.33(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 |
| GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4 | copy number gain | See cases [RCV000515599] | Chr22:16114244..18917748 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 | copy number gain | See cases [RCV000133785] | Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 | copy number loss | See cases [RCV000133786] | Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 | copy number gain | See cases [RCV000133682] | Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20659606 [GRCh37] Chr22:15777498..18989606 [NCBI36] Chr22:22q11.1-11.21 |
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 22q11.1-11.21(chr22:16916743-19597367)x3 | copy number gain | See cases [RCV000134065] | Chr22:16916743..19597367 [GRCh38] Chr22:17397633..19584890 [GRCh37] Chr22:15777633..17964890 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3 | copy number gain | See cases [RCV000138648] | Chr22:16916743..18718546 [GRCh38] Chr22:17397633..18706059 [GRCh37] Chr22:15777633..17086059 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3 | copy number gain | See cases [RCV000138423] | Chr22:16916743..18178991 [GRCh38] Chr22:17397633..18661758 [GRCh37] Chr22:15777633..17041758 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3 | copy number gain | See cases [RCV000139612] | Chr22:16916743..18145439 [GRCh38] Chr22:17397633..18628206 [GRCh37] Chr22:15777633..17008206 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4 | copy number gain | See cases [RCV000142442] | Chr22:16916608..18997006 [GRCh38] Chr22:17397498..18984519 [GRCh37] Chr22:15777498..17364519 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4 | copy number gain | See cases [RCV000142570] | Chr22:16916608..18179006 [GRCh38] Chr22:17397498..18661773 [GRCh37] Chr22:15777498..17041773 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4 | copy number gain | See cases [RCV000140776] | Chr22:16367190..18178957 [GRCh38] Chr22:16054691..18661724 [GRCh37] Chr22:14434691..17041724 [NCBI36] Chr22:22p11.2-q11.1 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 | copy number gain | See cases [RCV000258792] | Chr22:17012935..21431054 [GRCh37] Chr22:22q11.1-11.21 |
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 22q11.1-11.21(chr22:16054691-18650708)x4 | copy number gain | See cases [RCV000240512] | Chr22:16054691..18650708 [GRCh37] Chr22:22q11.1-11.21 |
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 22q11.1-11.21(chr22:16888899-18644773)x4 | copy number gain | See cases [RCV000446925] | Chr22:16888899..18644773 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:17450514-18636846)x3 | copy number gain | Cat eye syndrome [RCV000446162]|See cases [RCV000446162] | Chr22:17450514..18636846 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic|uncertain significance |
| GRCh37/hg19 22q11.1-11.21(chr22:16888899-20000830)x1 | copy number loss | See cases [RCV000446695] | Chr22:16888899..20000830 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.21(chr22:18189295-18649167)x3 | copy number gain | See cases [RCV000447442] | Chr22:18189295..18649167 [GRCh37] Chr22:22q11.21 |
uncertain significance |
| GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 | copy number gain | See cases [RCV000446787] | Chr22:16888899..20311858 [GRCh37] Chr22:22q11.1-11.21 |
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 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16888899-20716903)x1 | copy number loss | See cases [RCV000448331] | Chr22:16888899..20716903 [GRCh37] Chr22:22q11.1-11.21 |
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 22q11.1-11.21(chr22:16888899-18916828)x3 | copy number gain | See cases [RCV000448365] | Chr22:16888899..18916828 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 | copy number gain | See cases [RCV000510690] | Chr22:16888899..20311858 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1 | copy number loss | See cases [RCV000510232] | Chr22:16888900..20026751 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16888899-18648856)x4 | copy number gain | See cases [RCV000511343] | Chr22:16888899..18648856 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x4 | copy number gain | See cases [RCV000511374] | Chr22:16888899..18649190 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16888900-18640300) | copy number gain | See cases [RCV000511748] | Chr22:16888900..18640300 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828) | copy number gain | See cases [RCV000511922] | Chr22:16888899..18916828 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| 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 22q11.1-11.21(chr22:16888899-20312661)x3 | copy number gain | not provided [RCV000684521] | Chr22:16888899..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3 | copy number gain | not provided [RCV000684501] | Chr22:16888899..18649190 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| 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 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16114244-20737903)x3 | copy number gain | not provided [RCV000741690] | Chr22:16114244..20737903 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| 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(chr22:18127437-18128960)x1 | copy number loss | not provided [RCV000741715] | Chr22:18127437..18128960 [GRCh37] Chr22:22q11.21 |
benign |
| GRCh37/hg19 22q11.21(chr22:18135912-18144275)x1 | copy number loss | not provided [RCV000741716] | Chr22:18135912..18144275 [GRCh37] Chr22:22q11.21 |
benign |
| GRCh37/hg19 22q11.21(chr22:18141559-18144275)x0 | copy number loss | not provided [RCV000741717] | Chr22:18141559..18144275 [GRCh37] Chr22:22q11.21 |
benign |
| GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474) | copy number gain | not provided [RCV000767814] | Chr22:17072086..20130474 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922) | copy number gain | 22q11.2 duplication syndrome [RCV000767815] | Chr22:17289827..20311922 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| Single allele | duplication | Neurodevelopmental disorder [RCV000787407] | Chr22:17041669..20247250 [GRCh37] Chr22:22q11.1-11.21 |
likely pathogenic |
| GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 | copy number gain | not provided [RCV000846815] | Chr22:16888899..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
| NC_000022.10:g.(?_17565962)_(18570861_?)dup | duplication | Polyarteritis nodosa, childhoood-onset [RCV000811342] | Chr22:17565962..18570861 [GRCh37] Chr22:22q11.1-11.21 |
uncertain significance |
| GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3 | copy number gain | not provided [RCV000845704] | Chr22:17055733..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:17164 | AgrOrtholog |
| COSMIC | BCL2L13 | COSMIC |
| Ensembl Genes | ENSG00000099968 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000318883 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000338932 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000347133 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000382677 | UniProtKB/TrEMBL | |
| ENSP00000382682 | UniProtKB/Swiss-Prot | |
| ENSP00000410019 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000434764 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000436321 | UniProtKB/TrEMBL | |
| ENSP00000437667 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000441344 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000477967 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000480014 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000480836 | ENTREZGENE, UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000317582 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000337612 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000355028 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000399777 | UniProtKB/TrEMBL | |
| ENST00000399782 | UniProtKB/Swiss-Prot | |
| ENST00000418951 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000493680 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000498133 | UniProtKB/TrEMBL | |
| ENST00000538149 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000543133 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000611738 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000616863 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000618481 | ENTREZGENE, UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.10.437.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000099968 | GTEx |
| HGNC ID | HGNC:17164 | ENTREZGENE |
| Human Proteome Map | BCL2L13 | Human Proteome Map |
| InterPro | Bcl2-like | UniProtKB/Swiss-Prot |
| BCL2L13 | UniProtKB/Swiss-Prot | |
| Blc2-like_sf | UniProtKB/Swiss-Prot | |
| Blc2_fam | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:23786 | UniProtKB/Swiss-Prot |
| NCBI Gene | 23786 | ENTREZGENE |
| PANTHER | PTHR15758 | UniProtKB/Swiss-Prot |
| Pfam | Bcl-2 | UniProtKB/Swiss-Prot |
| PharmGKB | PA134912159 | PharmGKB |
| PROSITE | BCL2_FAMILY | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF56854 | UniProtKB/Swiss-Prot |
| UniGene | Hs.631672 | ENTREZGENE |
| UniProt | A0A087WTL4 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A087WW80 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A087WX97 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A0A0MR90 | ENTREZGENE, UniProtKB/TrEMBL | |
| A8K5Y4 | ENTREZGENE, UniProtKB/TrEMBL | |
| B2L13_HUMAN | UniProtKB/Swiss-Prot | |
| B2RB43 | ENTREZGENE, UniProtKB/TrEMBL | |
| B7Z238 | ENTREZGENE, UniProtKB/TrEMBL | |
| B7Z737 | ENTREZGENE, UniProtKB/TrEMBL | |
| E9PDD6 | ENTREZGENE, UniProtKB/TrEMBL | |
| F2Z2C3_HUMAN | UniProtKB/TrEMBL | |
| F6VJB4 | ENTREZGENE, UniProtKB/TrEMBL | |
| H0Y3R5_HUMAN | UniProtKB/TrEMBL | |
| Q86T62 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9BXK5 | ENTREZGENE | |
| UniProt Secondary | B3KPE7 | UniProtKB/Swiss-Prot |
| Q96B37 | UniProtKB/Swiss-Prot | |
| Q96IB7 | UniProtKB/Swiss-Prot | |
| Q9BY01 | UniProtKB/Swiss-Prot | |
| Q9HC05 | UniProtKB/Swiss-Prot | |
| Q9UFE0 | UniProtKB/Swiss-Prot | |
| Q9UKN3 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-01-19 | BCL2L13 | BCL2 like 13 | BCL2-like 13 (apoptosis facilitator) | Symbol and/or name change | 5135510 | APPROVED | |
| 2012-08-07 | BCL2L13 | BCL2-like 13 (apoptosis facilitator) | BCL2L13 | BCL2-like 13 (apoptosis facilitator) | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on BCL2L13 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1315911 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
