CAAP1 (caspase activity and apoptosis inhibitor 1) - Rat Genome Database

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Gene: CAAP1 (caspase activity and apoptosis inhibitor 1) Homo sapiens
Analyze
Symbol: CAAP1
Name: caspase activity and apoptosis inhibitor 1
RGD ID: 1344567
HGNC Page HGNC:25834
Description: Predicted to be involved in apoptotic process and regulation of apoptotic process.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C9orf82; CAAP; conserved anti-apoptotic protein; FLJ13657; hypothetical protein LOC79886; RP11-337A23.1; uncharacterized protein C9orf82
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38926,840,685 - 26,892,802 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl926,840,685 - 26,892,803 (-)EnsemblGRCh38hg38GRCh38
GRCh37926,840,683 - 26,892,800 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36926,830,683 - 26,882,725 (-)NCBINCBI36Build 36hg18NCBI36
Build 34926,830,683 - 26,882,725NCBI
Celera926,768,847 - 26,820,992 (-)NCBICelera
Cytogenetic Map9p21.2NCBI
HuRef926,793,567 - 26,845,716 (-)NCBIHuRef
CHM1_1926,840,431 - 26,892,615 (-)NCBICHM1_1
T2T-CHM13v2.0926,851,324 - 26,903,417 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:12477932   PMID:14702039   PMID:15164053   PMID:15302935   PMID:15342556   PMID:15489334   PMID:16169070   PMID:17081983   PMID:17207965   PMID:19240061  
PMID:19322201   PMID:20379614   PMID:21832049   PMID:21873635   PMID:21980415   PMID:23383273   PMID:26496610   PMID:28514442   PMID:28695742   PMID:29128334   PMID:29509190   PMID:29802200  
PMID:30196744   PMID:30463901   PMID:30585266   PMID:30585729   PMID:31365120   PMID:31527615   PMID:31753913   PMID:32315812   PMID:32807901   PMID:32994395   PMID:33336752   PMID:33845483  
PMID:33961781   PMID:34079125   PMID:35271311   PMID:35944360   PMID:36217030   PMID:36232890   PMID:36244648   PMID:36373674   PMID:36574265   PMID:36870674  


Genomics

Comparative Map Data
CAAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38926,840,685 - 26,892,802 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl926,840,685 - 26,892,803 (-)EnsemblGRCh38hg38GRCh38
GRCh37926,840,683 - 26,892,800 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36926,830,683 - 26,882,725 (-)NCBINCBI36Build 36hg18NCBI36
Build 34926,830,683 - 26,882,725NCBI
Celera926,768,847 - 26,820,992 (-)NCBICelera
Cytogenetic Map9p21.2NCBI
HuRef926,793,567 - 26,845,716 (-)NCBIHuRef
CHM1_1926,840,431 - 26,892,615 (-)NCBICHM1_1
T2T-CHM13v2.0926,851,324 - 26,903,417 (-)NCBIT2T-CHM13v2.0
Caap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39494,388,318 - 94,445,033 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl494,388,318 - 94,445,033 (-)EnsemblGRCm39 Ensembl
GRCm38494,500,079 - 94,556,796 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl494,500,081 - 94,556,796 (-)EnsemblGRCm38mm10GRCm38
MGSCv37494,166,770 - 94,223,487 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36493,992,099 - 94,048,802 (-)NCBIMGSCv36mm8
Celera492,907,683 - 92,964,490 (-)NCBICelera
Cytogenetic Map4C5NCBI
cM Map443.32NCBI
Caap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85114,428,991 - 114,530,047 (-)NCBIGRCr8
mRatBN7.25109,313,253 - 109,414,323 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5109,361,912 - 109,414,314 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5111,936,136 - 111,992,813 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05113,661,926 - 113,718,602 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05113,724,156 - 113,780,832 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05113,479,416 - 113,532,961 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5113,480,547 - 113,532,878 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05117,424,984 - 117,477,647 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45114,800,960 - 114,853,305 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5107,988,993 - 108,041,262 (-)NCBICelera
Cytogenetic Map5q33NCBI
Caap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554727,937,866 - 7,992,440 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554727,937,702 - 7,993,252 (+)NCBIChiLan1.0ChiLan1.0
CAAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21197,648,939 - 97,703,166 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1997,658,342 - 97,709,111 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0926,688,023 - 26,739,818 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1927,295,326 - 27,346,814 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl927,295,433 - 27,346,814 (-)Ensemblpanpan1.1panPan2
CAAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11145,063,524 - 45,112,437 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1145,064,472 - 45,109,672 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1143,738,927 - 43,787,843 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01146,008,031 - 46,057,230 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1146,008,131 - 46,054,289 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11144,665,120 - 44,714,120 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01144,554,142 - 44,604,106 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01145,301,908 - 45,350,835 (-)NCBIUU_Cfam_GSD_1.0
Caap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947159,906,928 - 159,957,916 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366112,710,467 - 2,761,484 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366112,710,512 - 2,761,484 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLAA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1196,229,525 - 196,274,056 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11196,229,512 - 196,273,770 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21218,678,046 - 218,722,418 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Caap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473631,058,348 - 31,107,036 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CAAP1
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain 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 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 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 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 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 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 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 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 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 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 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 not specified [RCV003986800] 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
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p21.2(chr9:26604087-27065569)x3 copy number gain not provided [RCV001259522] Chr9:26604087..27065569 [GRCh37]
Chr9:9p21.2		 likely benign
GRCh37/hg19 9p21.2(chr9:26545337-27494803)x3 copy number gain not provided [RCV001259523] Chr9:26545337..27494803 [GRCh37]
Chr9:9p21.2		 uncertain significance
GRCh37/hg19 9p21.2(chr9:26461273-27541041)x3 copy number gain not provided [RCV001259524] Chr9:26461273..27541041 [GRCh37]
Chr9:9p21.2		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948) copy number loss not specified [RCV002053848] Chr9:22003967..30712948 [GRCh37]
Chr9:9p21.3-21.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p21.2(chr9:25901451-26924092)x3 copy number gain not provided [RCV001829248] Chr9:25901451..26924092 [GRCh37]
Chr9:9p21.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_024828.4(CAAP1):c.949A>G (p.Lys317Glu) single nucleotide variant Inborn genetic diseases [RCV003260237] Chr9:26842438 [GRCh38]
Chr9:26842436 [GRCh37]
Chr9:9p21.2		 uncertain significance
GRCh37/hg19 9p21.2(chr9:26768062-26867348)x1 copy number loss not provided [RCV002474829] Chr9:26768062..26867348 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.469A>G (p.Lys157Glu) single nucleotide variant Inborn genetic diseases [RCV002840566] Chr9:26887348 [GRCh38]
Chr9:26887346 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.626C>T (p.Ala209Val) single nucleotide variant Inborn genetic diseases [RCV002879772] Chr9:26884849 [GRCh38]
Chr9:26884847 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.602T>G (p.Met201Arg) single nucleotide variant Inborn genetic diseases [RCV002864647] Chr9:26884873 [GRCh38]
Chr9:26884871 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.782C>G (p.Ala261Gly) single nucleotide variant Inborn genetic diseases [RCV002778059] Chr9:26842605 [GRCh38]
Chr9:26842603 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.1070T>C (p.Ile357Thr) single nucleotide variant Inborn genetic diseases [RCV002707409] Chr9:26842317 [GRCh38]
Chr9:26842315 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.844A>G (p.Asn282Asp) single nucleotide variant Inborn genetic diseases [RCV002691350] Chr9:26842543 [GRCh38]
Chr9:26842541 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.239A>G (p.Glu80Gly) single nucleotide variant Inborn genetic diseases [RCV002919753] Chr9:26892477 [GRCh38]
Chr9:26892475 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.718G>A (p.Glu240Lys) single nucleotide variant Inborn genetic diseases [RCV002644816] Chr9:26861087 [GRCh38]
Chr9:26861085 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.740G>T (p.Gly247Val) single nucleotide variant Inborn genetic diseases [RCV002985126] Chr9:26842647 [GRCh38]
Chr9:26842645 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.167G>C (p.Gly56Ala) single nucleotide variant Inborn genetic diseases [RCV002703424] Chr9:26892549 [GRCh38]
Chr9:26892547 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.233G>T (p.Ser78Ile) single nucleotide variant Inborn genetic diseases [RCV002655553] Chr9:26892483 [GRCh38]
Chr9:26892481 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.185G>A (p.Gly62Glu) single nucleotide variant Inborn genetic diseases [RCV003188682] Chr9:26892531 [GRCh38]
Chr9:26892529 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.190G>A (p.Val64Ile) single nucleotide variant Inborn genetic diseases [RCV003210648] Chr9:26892526 [GRCh38]
Chr9:26892524 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.257A>G (p.Lys86Arg) single nucleotide variant Inborn genetic diseases [RCV003214828] Chr9:26892459 [GRCh38]
Chr9:26892457 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.688G>A (p.Ala230Thr) single nucleotide variant Inborn genetic diseases [RCV003188686] Chr9:26861117 [GRCh38]
Chr9:26861115 [GRCh37]
Chr9:9p21.2		 likely benign
NM_024828.4(CAAP1):c.973C>T (p.Pro325Ser) single nucleotide variant Inborn genetic diseases [RCV003283030] Chr9:26842414 [GRCh38]
Chr9:26842412 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.275C>G (p.Ser92Cys) single nucleotide variant Inborn genetic diseases [RCV003304955] Chr9:26892441 [GRCh38]
Chr9:26892439 [GRCh37]
Chr9:9p21.2		 uncertain significance
NM_024828.4(CAAP1):c.451T>G (p.Phe151Val) single nucleotide variant Inborn genetic diseases [RCV003266118] Chr9:26887366 [GRCh38]
Chr9:26887364 [GRCh37]
Chr9:9p21.2		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1166
Count of miRNA genes:600
Interacting mature miRNAs:671
Transcripts:ENST00000333916, ENST00000483493, ENST00000495958, ENST00000517946, ENST00000520187, ENST00000535437
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.

Markers in Region
D9S2086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37926,841,318 - 26,841,454UniSTSGRCh37
Build 36926,831,318 - 26,831,454RGDNCBI36
Celera926,769,482 - 26,769,618RGD
Cytogenetic Map9p21.2UniSTS
HuRef926,794,202 - 26,794,338UniSTS
A007F33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37926,841,278 - 26,841,476UniSTSGRCh37
Build 36926,831,278 - 26,831,476RGDNCBI36
Celera926,769,442 - 26,769,640RGD
Cytogenetic Map9p21.2UniSTS
HuRef926,794,162 - 26,794,360UniSTS
GeneMap99-GB4 RH Map980.68UniSTS
NCBI RH Map9275.6UniSTS
WI-21850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37926,840,685 - 26,840,938UniSTSGRCh37
Build 36926,830,685 - 26,830,938RGDNCBI36
Celera926,768,849 - 26,769,102RGD
Cytogenetic Map9p21.2UniSTS
HuRef926,793,569 - 26,793,822UniSTS
GeneMap99-GB4 RH Map980.68UniSTS
Whitehead-RH Map974.9UniSTS
NCBI RH Map9284.3UniSTS
WI-13926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37926,840,962 - 26,841,061UniSTSGRCh37
Build 36926,830,962 - 26,831,061RGDNCBI36
Celera926,769,126 - 26,769,225RGD
Cytogenetic Map9p21.2UniSTS
HuRef926,793,846 - 26,793,945UniSTS
GeneMap99-GB4 RH Map972.12UniSTS
Whitehead-RH Map985.0UniSTS
NCBI RH Map9269.4UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1239 1031 1460 408 965 298 2268 427 1147 327 1115 1219 125 1 485 1331 5 2
Low 1200 1822 266 216 847 167 2088 1766 2585 92 345 383 50 719 1457 1
Below cutoff 138 135 1 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000333916   ⟹   ENSP00000369431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl926,840,685 - 26,892,802 (-)Ensembl
RefSeq Acc Id: ENST00000483493   ⟹   ENSP00000427916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl926,842,394 - 26,892,787 (-)Ensembl
RefSeq Acc Id: ENST00000495958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl926,861,089 - 26,892,604 (-)Ensembl
RefSeq Acc Id: ENST00000517946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl926,869,926 - 26,887,478 (-)Ensembl
RefSeq Acc Id: ENST00000520187   ⟹   ENSP00000427938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl926,842,266 - 26,892,803 (-)Ensembl
RefSeq Acc Id: ENST00000625311   ⟹   ENSP00000487373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl926,841,736 - 26,892,442 (-)Ensembl
RefSeq Acc Id: ENST00000650615   ⟹   ENSP00000497400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl926,840,711 - 26,892,792 (-)Ensembl
RefSeq Acc Id: NM_001167575   ⟹   NP_001161047
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38926,840,685 - 26,892,802 (-)NCBI
GRCh37926,840,683 - 26,892,826 (-)RGD
Celera926,768,847 - 26,820,992 (-)RGD
HuRef926,793,567 - 26,845,716 (-)ENTREZGENE
CHM1_1926,840,431 - 26,892,615 (-)NCBI
T2T-CHM13v2.0926,851,324 - 26,903,417 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024828   ⟹   NP_079104
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38926,840,685 - 26,892,802 (-)NCBI
GRCh37926,840,683 - 26,892,826 (-)RGD
Build 36926,830,683 - 26,882,725 (-)NCBI Archive
Celera926,768,847 - 26,820,992 (-)RGD
HuRef926,793,567 - 26,845,716 (-)ENTREZGENE
CHM1_1926,840,431 - 26,892,615 (-)NCBI
T2T-CHM13v2.0926,851,324 - 26,903,417 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423896   ⟹   XP_047279852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38926,861,065 - 26,892,802 (-)NCBI
RefSeq Acc Id: XM_054363861   ⟹   XP_054219836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0926,871,681 - 26,903,417 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_079104   ⟸   NM_024828
- Peptide Label: isoform 1
- UniProtKB: Q6IPE6 (UniProtKB/Swiss-Prot),   Q5VY32 (UniProtKB/Swiss-Prot),   D3DRK4 (UniProtKB/Swiss-Prot),   B4DWT4 (UniProtKB/Swiss-Prot),   Q96C59 (UniProtKB/Swiss-Prot),   Q9H8G2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161047   ⟸   NM_001167575
- Peptide Label: isoform 2
- UniProtKB: B4DUP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000369431   ⟸   ENST00000333916
RefSeq Acc Id: ENSP00000487373   ⟸   ENST00000625311
RefSeq Acc Id: ENSP00000497400   ⟸   ENST00000650615
RefSeq Acc Id: ENSP00000427938   ⟸   ENST00000520187
RefSeq Acc Id: ENSP00000427916   ⟸   ENST00000483493
RefSeq Acc Id: XP_047279852   ⟸   XM_047423896
- Peptide Label: isoform X1
- UniProtKB: A0A3B3ISJ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219836   ⟸   XM_054363861
- Peptide Label: isoform X1
- UniProtKB: A0A3B3ISJ3 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H8G2-F1-model_v2 AlphaFold Q9H8G2 1-361 view protein structure

Promoters
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:
Human AssemblyChrPosition (strand)Source
Build 36926,882,451 - 26,882,951 (-)MPROMDB
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:
Human AssemblyChrPosition (strand)Source
GRCh38926,892,802 - 26,892,862EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25834 AgrOrtholog
COSMIC CAAP1 COSMIC
Ensembl Genes ENSG00000120159 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000333916 ENTREZGENE
  ENST00000333916.8 UniProtKB/Swiss-Prot
  ENST00000483493.6 UniProtKB/TrEMBL
  ENST00000520187.1 UniProtKB/TrEMBL
  ENST00000625311 ENTREZGENE
  ENST00000625311.1 UniProtKB/Swiss-Prot
  ENST00000650615 ENTREZGENE
  ENST00000650615.1 UniProtKB/TrEMBL
GTEx ENSG00000120159 GTEx
HGNC ID HGNC:25834 ENTREZGENE
Human Proteome Map CAAP1 Human Proteome Map
InterPro CAAP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79886 UniProtKB/Swiss-Prot
NCBI Gene 79886 ENTREZGENE
PANTHER CASPASE ACTIVITY AND APOPTOSIS INHIBITOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14740 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CAAP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134943744 PharmGKB
UniProt A0A3B3ISJ3 ENTREZGENE, UniProtKB/TrEMBL
  B4DUP7 ENTREZGENE, UniProtKB/TrEMBL
  B4DWT4 ENTREZGENE
  CAAP1_HUMAN UniProtKB/Swiss-Prot
  D3DRK4 ENTREZGENE
  E5RFV1_HUMAN UniProtKB/TrEMBL
  E5RFW3_HUMAN UniProtKB/TrEMBL
  Q5VY32 ENTREZGENE
  Q6IPE6 ENTREZGENE
  Q96C59 ENTREZGENE
  Q9H8G2 ENTREZGENE
UniProt Secondary B4DWT4 UniProtKB/Swiss-Prot
  D3DRK4 UniProtKB/Swiss-Prot
  Q5VY32 UniProtKB/Swiss-Prot
  Q6IPE6 UniProtKB/Swiss-Prot
  Q96C59 UniProtKB/Swiss-Prot


Nomenclature History
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