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Analyze GeneStrainQTL List |
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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | apoptotic process | | IEA | UniProtKB-KW:KW-0053 | 2290271 | | UniProtKB | GO_REF:0000037 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway | | IMP | | 2290271 | (PMID:21980415) | UniProtKB | PMID:21980415 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway | | IBA | PANTHER:PTN001027862, UniProtKB:Q9H8G2 | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | regulation of apoptotic process | | IEA | InterPro:IPR038991 | 2290271 | | InterPro | GO_REF:0000002 | |
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1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 8619474 9110174 12477932 14702039 15164053 15302935 15342556 15489334 16169070 17081983 17207965 19240061 19322201 20379614 21832049 21873635 21980415 23383273 26496610 28514442 28695742 29128334 29509190 30196744 30463901 |
CAAP1 (Homo sapiens - human) |
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Caap1 (Mus musculus - house mouse) |
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Caap1 (Rattus norvegicus - Norway rat) |
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Caap1 (Chinchilla lanigera - long-tailed chinchilla) |
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CAAP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CAAP1 (Canis lupus familiaris - dog) |
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Caap1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CAAP1 (Sus scrofa - pig) |
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D9S2086 |
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A007F33 |
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WI-21850 |
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WI-13926 |
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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. |
RefSeq Transcripts | NM_001167575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_024828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001746381 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF131768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK023719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300739 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK301673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL356133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC071953 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP228742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP374752 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001167575 ⟹ NP_001161047 | |||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
GGAAGTGACGCATAACCTGCGACGCCAGTGCCTGCCGCCCACGGCCGCAGGAGTCGGGCTTCGGhide sequence |
RefSeq Acc Id: | NM_024828 ⟹ NP_079104 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
GGAAGTGACGCATAACCTGCGACGCCAGTGCCTGCCGCCCACGGCCGCAGGAGTCGGGCTTCGGhide sequence |
RefSeq Acc Id: | XR_001746381 | |||||||||
RefSeq Status: | ||||||||||
Type: | NON-CODING | |||||||||
Position: |
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Sequence: |
GACGCCAGTGCCTGCCGCCCACGGCCGCAGGAGTCGGGCTTCGGTCGCACCAGAGACAGCGGAChide sequence |
Protein RefSeqs | NP_001161047 | (Get FASTA) | NCBI Sequence Viewer |
NP_079104 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH14658 | (Get FASTA) | NCBI Sequence Viewer |
AAH71953 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14655 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62409 | (Get FASTA) | NCBI Sequence Viewer | |
BAG63146 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58576 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58577 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58578 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58579 | (Get FASTA) | NCBI Sequence Viewer | |
Q9H8G2 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_079104 ⟸ NM_024828 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H8G2 (UniProtKB/Swiss-Prot) |
- Sequence: |
MTGKKSSREKRRKRSSQEAAAALAAPDIVPALASGSSGSTSGCGSAGGCGSVSCCGNANFSGSVhide sequence |
RefSeq Acc Id: | NP_001161047 ⟸ NM_001167575 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9H8G2 (UniProtKB/Swiss-Prot) |
- Sequence: |
MLQQCFCIIGEKKLQKMLPDVLKNCSIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEAhide sequence |
RGD ID: | 6807348 | |||||||||
Promoter ID: | HG_KWN:62825 | |||||||||
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: | OTTHUMT00000051954, OTTHUMT00000051955, OTTHUMT00000051956, UC003ZQB.1 | |||||||||
Position: |
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RGD ID: | 7214809 | |||||||||
Promoter ID: | EPDNEW_H13150 | |||||||||
Type: | initiation region | |||||||||
Name: | CAAP1_1 | |||||||||
Description: | caspase activity and apoptosis inhibitor 1 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|See cases [RCV000050357] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|See cases [RCV000051106] | Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|See cases [RCV000053703] | Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] | Chr9:204193..34599437 [GRCh38] Chr9:204193..34599435 [GRCh37] Chr9:194193..34589435 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 | copy number gain | Global developmental delay [RCV000053707]|See cases [RCV000053707] | Chr9:204193..33284638 [GRCh38] Chr9:204193..33284636 [GRCh37] Chr9:194193..33274636 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|See cases [RCV000053747] | Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 | copy number gain | Global developmental delay [RCV000053749]|See cases [RCV000053749] | Chr9:9543538..30266463 [GRCh38] Chr9:9543538..30266461 [GRCh37] Chr9:9533538..30256461 [NCBI36] Chr9:9p23-21.1 |
pathogenic |
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] | Chr9:13526091..34261642 [GRCh38] Chr9:13526090..34261640 [GRCh37] Chr9:13516090..34251640 [NCBI36] Chr9:9p23-13.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_001167575.1(CAAP1):c.399G>C (p.Glu133Asp) | single nucleotide variant | Malignant melanoma [RCV000068626] | Chr9:26842553 [GRCh38] Chr9:26842551 [GRCh37] Chr9:26832551 [NCBI36] Chr9:9p21.2 |
not provided |
NM_001167575.1(CAAP1):c.397G>A (p.Glu133Lys) | single nucleotide variant | Malignant melanoma [RCV000068627] | Chr9:26842555 [GRCh38] Chr9:26842553 [GRCh37] Chr9:26832553 [NCBI36] Chr9:9p21.2 |
not provided |
NM_024828.3(CAAP1):c.20C>T (p.Ser7Phe) | single nucleotide variant | Malignant melanoma [RCV000068628] | Chr9:26892696 [GRCh38] Chr9:26892694 [GRCh37] Chr9:26882694 [NCBI36] Chr9:9p21.2 |
not provided |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 | copy number gain | See cases [RCV000134037] | Chr9:220257..29424848 [GRCh38] Chr9:220257..29424846 [GRCh37] Chr9:210257..29414846 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 | copy number gain | See cases [RCV000135344] | Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 | copy number gain | See cases [RCV000136680] | Chr9:4661872..27661572 [GRCh38] Chr9:4661872..27661570 [GRCh37] Chr9:4651872..27651570 [NCBI36] Chr9:9p24.1-21.2 |
pathogenic |
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 | copy number gain | See cases [RCV000137741] | Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 | copy number gain | See cases [RCV000137888] | Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 | copy number gain | See cases [RCV000139208] | Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 | copy number gain | See cases [RCV000139015] | Chr9:204104..34151476 [GRCh38] Chr9:204104..34151474 [GRCh37] Chr9:194104..34141474 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic|likely benign |
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 | copy number gain | See cases [RCV000139126] | Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) | copy number gain | See cases [RCV000140448] | Chr9:18344605..68257015 [GRCh38] Chr9:18344603..68995221 [GRCh37] Chr9:18334603..68285041 [NCBI36] Chr9:9p22.2-q21.11 |
pathogenic |
GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1 | copy number loss | See cases [RCV000139905] | Chr9:19564275..28106622 [GRCh38] Chr9:19564273..28106620 [GRCh37] Chr9:19554273..28096620 [NCBI36] Chr9:9p22.1-21.1 |
pathogenic |
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 | copy number gain | See cases [RCV000139621] | Chr9:204104..27963369 [GRCh38] Chr9:204104..27963367 [GRCh37] Chr9:194104..27953367 [NCBI36] Chr9:9p24.3-21.2 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 | copy number gain | See cases [RCV000141662] | Chr9:203861..31423873 [GRCh38] Chr9:203861..31423871 [GRCh37] Chr9:193861..31413871 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) | copy number gain | See cases [RCV000143411] | Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | See cases [RCV000148159] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 | copy number gain | See cases [RCV000240201] | Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 | copy number gain | See cases [RCV000240048] | Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 | copy number gain | See cases [RCV000239869] | Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 | copy number gain | See cases [RCV000449165] | Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | See cases [RCV000446521] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) | copy number gain | See cases [RCV000447246] | Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 | copy number gain | See cases [RCV000448242] | Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 | copy number gain | See cases [RCV000448569] | Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3 | copy number gain | See cases [RCV000510665] | Chr9:17684434..30889762 [GRCh37] Chr9:9p22.2-21.1 |
pathogenic |
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 | copy number gain | See cases [RCV000510425] | Chr9:5900425..30008330 [GRCh37] Chr9:9p24.1-21.1 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | See cases [RCV000510864] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 | copy number gain | See cases [RCV000510986] | Chr9:17132123..35567051 [GRCh37] Chr9:9p22.2-13.3 |
pathogenic |
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 | copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] | Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 | copy number gain | not provided [RCV000683174] | Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | not provided [RCV000683172] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | not provided [RCV000683173] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 | copy number gain | not provided [RCV000683175] | Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh37/hg19 9p21.2(chr9:26187635-26843342)x3 | copy number gain | not provided [RCV000748330] | Chr9:26187635..26843342 [GRCh37] Chr9:9p21.2 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) | copy number gain | not provided [RCV000767644] | Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 | copy number gain | not provided [RCV000845815] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 | copy number gain | not provided [RCV000848175] | Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:25834 | AgrOrtholog |
COSMIC | CAAP1 | COSMIC |
Ensembl Genes | ENSG00000120159 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000369431 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000427916 | UniProtKB/TrEMBL | |
ENSP00000427938 | UniProtKB/TrEMBL | |
ENSP00000487373 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000497400 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000333916 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000483493 | UniProtKB/TrEMBL | |
ENST00000520187 | UniProtKB/TrEMBL | |
ENST00000625311 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000650615 | ENTREZGENE, UniProtKB/TrEMBL | |
GTEx | ENSG00000120159 | GTEx |
HGNC ID | HGNC:25834 | ENTREZGENE |
Human Proteome Map | CAAP1 | Human Proteome Map |
InterPro | CAAP1 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:79886 | UniProtKB/Swiss-Prot |
NCBI Gene | 79886 | ENTREZGENE |
PANTHER | PTHR14740 | UniProtKB/Swiss-Prot |
Pfam | CAAP1 | UniProtKB/Swiss-Prot |
PharmGKB | PA134943744 | PharmGKB |
UniGene | Hs.178357 | ENTREZGENE |
UniProt | A0A3B3ISJ3_HUMAN | UniProtKB/TrEMBL |
CAAP1_HUMAN | UniProtKB/Swiss-Prot | |
E5RFV1_HUMAN | UniProtKB/TrEMBL | |
E5RFW3_HUMAN | UniProtKB/TrEMBL | |
Q9H8G2 | ENTREZGENE | |
UniProt Secondary | B4DWT4 | UniProtKB/Swiss-Prot |
D3DRK4 | UniProtKB/Swiss-Prot | |
Q5VY32 | UniProtKB/Swiss-Prot | |
Q6IPE6 | UniProtKB/Swiss-Prot | |
Q96C59 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2012-04-24 | CAAP1 | caspase activity and apoptosis inhibitor 1 | C9orf82 | chromosome 9 open reading frame 82 | Symbol and/or name change | 5135510 | APPROVED |
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More on CAAP1 | |
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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: | 1344567 |
Created: | 2005-03-08 |
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.