API5 (apoptosis inhibitor 5) - Rat Genome Database

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Gene: API5 (apoptosis inhibitor 5) Homo sapiens
Analyze
Symbol: API5
Name: apoptosis inhibitor 5
RGD ID: 1320288
HGNC Page HGNC
Description: Exhibits fibroblast growth factor binding activity. Involved in negative regulation of apoptotic process. Localizes to nuclear speck. Biomarker of cervical cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AAC-11; AAC11; antiapoptosis clone 11 protein; API-5; cell migration-inducing gene 8 protein; fibroblast growth factor 2-interacting factor 2; FIF; FLJ11587; migration-inducing protein MIG8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: API5P1   API5P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1143,311,963 - 43,344,529 (+)EnsemblGRCh38hg38GRCh38
GRCh381143,311,970 - 43,344,530 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371143,333,546 - 43,366,079 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361143,290,109 - 43,322,655 (+)NCBINCBI36hg18NCBI36
Build 341143,290,108 - 43,322,655NCBI
Celera1143,480,519 - 43,513,094 (+)NCBI
Cytogenetic Map11p12NCBI
HuRef1143,043,693 - 43,076,275 (+)NCBIHuRef
CHM1_11143,333,124 - 43,365,702 (+)NCBICHM1_1
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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Kim JW, etal., Lab Invest. 2000 Apr;80(4):587-94.
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9307294   PMID:10393420   PMID:11075807   PMID:11555636   PMID:12477932   PMID:12703993   PMID:14702039   PMID:15489334   PMID:15635413   PMID:16083285   PMID:16344560   PMID:17081983  
PMID:17112319   PMID:18029348   PMID:18319255   PMID:19322201   PMID:19387494   PMID:19661379   PMID:19734545   PMID:19821157   PMID:19946888   PMID:20467437   PMID:20671611   PMID:21145461  
PMID:21873635   PMID:22145905   PMID:22334682   PMID:22658674   PMID:22681889   PMID:22863883   PMID:22939629   PMID:23824909   PMID:23940755   PMID:24457600   PMID:24769442   PMID:24785373  
PMID:24999758   PMID:25070070   PMID:25248562   PMID:25433291   PMID:25477374   PMID:25819896   PMID:25921289   PMID:25982273   PMID:26300262   PMID:26344197   PMID:26496610   PMID:26673663  
PMID:26687479   PMID:26760575   PMID:26870752   PMID:27371349   PMID:27684187   PMID:28065597   PMID:28336776   PMID:28846114   PMID:28883622   PMID:28977666   PMID:29117863   PMID:29128334  
PMID:29229926   PMID:29490077   PMID:29568061   PMID:29656893   PMID:30021884   PMID:30110629   PMID:30948266   PMID:31180492   PMID:31527615   PMID:32203420   PMID:32296183   PMID:32383752  
PMID:32416067   PMID:32780723  


Genomics

Comparative Map Data
API5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1143,311,963 - 43,344,529 (+)EnsemblGRCh38hg38GRCh38
GRCh381143,311,970 - 43,344,530 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371143,333,546 - 43,366,079 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361143,290,109 - 43,322,655 (+)NCBINCBI36hg18NCBI36
Build 341143,290,108 - 43,322,655NCBI
Celera1143,480,519 - 43,513,094 (+)NCBI
Cytogenetic Map11p12NCBI
HuRef1143,043,693 - 43,076,275 (+)NCBIHuRef
CHM1_11143,333,124 - 43,365,702 (+)NCBICHM1_1
Api5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39294,242,072 - 94,268,531 (-)NCBIGRCm39mm39
GRCm39 Ensembl294,242,027 - 94,268,481 (-)Ensembl
GRCm38294,411,727 - 94,438,186 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl294,411,682 - 94,438,136 (-)EnsemblGRCm38mm10GRCm38
MGSCv37294,251,884 - 94,278,304 (-)NCBIGRCm37mm9NCBIm37
MGSCv36294,212,571 - 94,238,912 (-)NCBImm8
Celera295,808,356 - 95,834,786 (-)NCBICelera
Cytogenetic Map2E1NCBI
Api5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2380,378,100 - 80,403,267 (-)NCBI
Rnor_6.0 Ensembl383,310,884 - 83,335,960 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0383,310,878 - 83,336,053 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0390,010,495 - 90,035,670 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4378,819,632 - 78,844,710 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1378,716,055 - 78,741,216 (-)NCBI
Celera379,572,457 - 79,597,535 (-)NCBICelera
Cytogenetic Map3q31NCBI
Api5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554224,121,837 - 4,149,471 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554224,121,913 - 4,149,242 (-)NCBIChiLan1.0ChiLan1.0
API5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11143,759,414 - 43,791,975 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1143,759,414 - 43,791,975 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01143,279,024 - 43,311,602 (+)NCBIMhudiblu_PPA_v0panPan3
API5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11826,326,387 - 26,355,580 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1826,327,920 - 26,355,585 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1826,016,307 - 26,045,407 (-)NCBI
ROS_Cfam_1.01826,950,978 - 26,980,076 (-)NCBI
UNSW_CanFamBas_1.01826,106,836 - 26,135,908 (-)NCBI
UU_Cfam_GSD_1.01826,718,679 - 26,747,755 (-)NCBI
Api5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494723,117,515 - 23,141,542 (-)NCBI
SpeTri2.0NW_0049365625,229,157 - 5,253,175 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
API5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl218,941,963 - 18,994,226 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1218,962,262 - 18,994,235 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2220,666,705 - 20,698,683 (-)NCBISscrofa10.2Sscrofa10.2susScr3
API5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1122,029,723 - 22,064,553 (-)NCBI
ChlSab1.1 Ensembl122,034,317 - 22,064,541 (-)Ensembl
Api5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247674,591,562 - 4,614,365 (-)NCBI

Position Markers
RH65627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X115,239,132 - 115,239,288UniSTSGRCh37
Build 36X115,153,160 - 115,153,316RGDNCBI36
CeleraX115,899,371 - 115,899,527RGD
Cytogenetic MapXq24UniSTS
Cytogenetic Map11p11.2UniSTS
GeneMap99-GB4 RH Map11169.13UniSTS
GDB:451846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371143,345,049 - 43,345,130UniSTSGRCh37
GRCh372178,862,805 - 178,862,886UniSTSGRCh37
Build 362178,571,051 - 178,571,132RGDNCBI36
Celera1143,492,061 - 43,492,142UniSTS
Celera2172,465,643 - 172,465,724RGD
Cytogenetic Map2q31.2UniSTS
Cytogenetic Map11p11.2UniSTS
HuRef1143,055,240 - 43,055,321UniSTS
HuRef2170,733,174 - 170,733,255UniSTS
SHGC-110333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371143,349,615 - 43,349,914UniSTSGRCh37
Build 361143,306,191 - 43,306,490RGDNCBI36
Celera1143,496,627 - 43,496,926RGD
Cytogenetic Map11p11.2UniSTS
HuRef1143,059,807 - 43,060,106UniSTS
TNG Radiation Hybrid Map1120729.0UniSTS
RH11873  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p11.2UniSTS
RH69526  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p11.2UniSTS
HuRef1143,073,362 - 43,073,566UniSTS
GeneMap99-GB4 RH Map11151.84UniSTS
NCBI RH Map11268.1UniSTS
RH36898  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p11.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR224hsa-miR-224-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assay//qRT-PCRFunctional MTI18319255
MIR224hsa-miR-224-5pOncomiRDBexternal_infoNANA22326282
MIR224hsa-miR-224-5pOncomiRDBexternal_infoNANA22178270
MIR224hsa-miR-224-5pOncomiRDBexternal_infoNANA18319255
MIR224hsa-miR-224-3pMirecordsexternal_info{changed}NA18319255

Predicted Target Of
Summary Value
Count of predictions:1960
Count of miRNA genes:795
Interacting mature miRNAs:922
Transcripts:ENST00000378852, ENST00000420461, ENST00000455725, ENST00000526394, ENST00000529334, ENST00000529932, ENST00000530300, ENST00000531273, ENST00000532267, ENST00000534600, ENST00000534695
Prediction methods:Microtar, 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.


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 2437 2304 1716 616 1542 457 4346 1979 3557 410 1458 1611 175 1 1203 2777 6 2
Low 2 687 10 8 409 8 11 218 177 9 2 1 1 11
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF229253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF229254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY265973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY311389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF115210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM193468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK904611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA104687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC334531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U83857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378852   ⟹   ENSP00000368129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,312,003 - 43,344,529 (+)Ensembl
RefSeq Acc Id: ENST00000420461   ⟹   ENSP00000402540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,311,998 - 43,342,981 (+)Ensembl
RefSeq Acc Id: ENST00000455725   ⟹   ENSP00000399341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,311,978 - 43,342,980 (+)Ensembl
RefSeq Acc Id: ENST00000526394   ⟹   ENSP00000436436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,322,044 - 43,335,940 (+)Ensembl
RefSeq Acc Id: ENST00000529334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,335,279 - 43,339,373 (+)Ensembl
RefSeq Acc Id: ENST00000529932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,330,233 - 43,336,221 (+)Ensembl
RefSeq Acc Id: ENST00000530300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,311,989 - 43,318,984 (+)Ensembl
RefSeq Acc Id: ENST00000531273   ⟹   ENSP00000431391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,311,996 - 43,344,529 (+)Ensembl
RefSeq Acc Id: ENST00000532267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,329,986 - 43,336,064 (+)Ensembl
RefSeq Acc Id: ENST00000534600   ⟹   ENSP00000434462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,312,096 - 43,336,230 (+)Ensembl
RefSeq Acc Id: ENST00000534695   ⟹   ENSP00000436189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1143,311,963 - 43,342,676 (+)Ensembl
RefSeq Acc Id: NM_001142930   ⟹   NP_001136402
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381143,311,996 - 43,344,529 (+)NCBI
GRCh371143,333,505 - 43,366,080 (+)ENTREZGENE
HuRef1143,043,693 - 43,076,275 (+)ENTREZGENE
CHM1_11143,333,124 - 43,365,702 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142931   ⟹   NP_001136403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381143,311,996 - 43,344,529 (+)NCBI
GRCh371143,333,505 - 43,366,080 (+)ENTREZGENE
HuRef1143,043,693 - 43,076,275 (+)ENTREZGENE
CHM1_11143,333,124 - 43,365,702 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243747   ⟹   NP_001230676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381143,311,996 - 43,344,529 (+)NCBI
GRCh371143,333,505 - 43,366,080 (+)NCBI
HuRef1143,043,693 - 43,076,275 (+)NCBI
CHM1_11143,333,124 - 43,365,702 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006595   ⟹   NP_006586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381143,311,996 - 43,344,529 (+)NCBI
GRCh371143,333,505 - 43,366,080 (+)ENTREZGENE
Build 361143,290,109 - 43,322,655 (+)NCBI Archive
HuRef1143,043,693 - 43,076,275 (+)ENTREZGENE
CHM1_11143,333,124 - 43,365,702 (+)NCBI
Sequence:
RefSeq Acc Id: NR_024625
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381143,311,996 - 43,344,529 (+)NCBI
GRCh371143,333,505 - 43,366,080 (+)ENTREZGENE
HuRef1143,043,693 - 43,076,275 (+)ENTREZGENE
CHM1_11143,333,124 - 43,365,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718359   ⟹   XP_006718422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381143,311,978 - 43,344,530 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018464   ⟹   XP_016873953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381143,311,970 - 43,344,530 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018465   ⟹   XP_016873954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381143,311,970 - 43,344,530 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001136402   ⟸   NM_001142930
- Peptide Label: isoform a
- UniProtKB: Q9BZZ5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006586   ⟸   NM_006595
- Peptide Label: isoform b
- UniProtKB: Q9BZZ5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001136403   ⟸   NM_001142931
- Peptide Label: isoform c
- UniProtKB: Q9BZZ5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230676   ⟸   NM_001243747
- Peptide Label: isoform d
- UniProtKB: Q9BZZ5 (UniProtKB/Swiss-Prot),   B4DDR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718422   ⟸   XM_006718359
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016873953   ⟸   XM_017018464
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016873954   ⟸   XM_017018465
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000431391   ⟸   ENST00000531273
RefSeq Acc Id: ENSP00000434462   ⟸   ENST00000534600
RefSeq Acc Id: ENSP00000436189   ⟸   ENST00000534695
RefSeq Acc Id: ENSP00000399341   ⟸   ENST00000455725
RefSeq Acc Id: ENSP00000368129   ⟸   ENST00000378852
RefSeq Acc Id: ENSP00000436436   ⟸   ENST00000526394
RefSeq Acc Id: ENSP00000402540   ⟸   ENST00000420461

Promoters
RGD ID:6788481
Promoter ID:HG_KWN:12661
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:NM_001142930,   NM_001142931,   NM_006595,   NR_024625
Position:
Human AssemblyChrPosition (strand)Source
Build 361143,289,896 - 43,290,396 (+)MPROMDB
RGD ID:6788484
Promoter ID:HG_KWN:12662
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:UC001MXG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361143,296,661 - 43,297,161 (+)MPROMDB
RGD ID:7220107
Promoter ID:EPDNEW_H15799
Type:initiation region
Name:API5_1
Description:apoptosis inhibitor 5
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
GRCh381143,311,996 - 43,312,056EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3 copy number gain See cases [RCV000133775] Chr11:40688674..44913409 [GRCh38]
Chr11:40710224..44934960 [GRCh37]
Chr11:40666800..44891536 [NCBI36]
Chr11:11p12-11.2
uncertain significance
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12
pathogenic
GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3 copy number gain See cases [RCV000138110] Chr11:40688674..44184136 [GRCh38]
Chr11:40710224..44205686 [GRCh37]
Chr11:40666800..44162262 [NCBI36]
Chr11:11p12-11.2
likely pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12
likely pathogenic
GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 copy number loss See cases [RCV000142289] Chr11:42553659..46114792 [GRCh38]
Chr11:42575209..46136343 [GRCh37]
Chr11:42531785..46092919 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1 copy number loss See cases [RCV000142439] Chr11:39684826..44845260 [GRCh38]
Chr11:39706376..44866811 [GRCh37]
Chr11:39662952..44823387 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2
pathogenic
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 copy number loss See cases [RCV000445800] Chr11:29238811..45494063 [GRCh37]
Chr11:11p14.1-11.2
pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p12-11.2(chr11:43223479-44266544)x3 copy number gain not provided [RCV001259099] Chr11:43223479..44266544 [GRCh37]
Chr11:11p12-11.2
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:594 AgrOrtholog
COSMIC API5 COSMIC
Ensembl Genes ENSG00000166181 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000368129 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000399341 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402540 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431391 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434462 UniProtKB/TrEMBL
  ENSP00000436189 UniProtKB/TrEMBL
  ENSP00000436436 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378852 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000420461 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000455725 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526394 UniProtKB/TrEMBL
  ENST00000531273 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000534600 UniProtKB/TrEMBL
  ENST00000534695 UniProtKB/TrEMBL
GTEx ENSG00000166181 GTEx
HGNC ID HGNC:594 ENTREZGENE
Human Proteome Map API5 Human Proteome Map
InterPro API5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8539 UniProtKB/Swiss-Prot
NCBI Gene 8539 ENTREZGENE
OMIM 609774 OMIM
PANTHER PTHR12758 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam API5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24881 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt API5_HUMAN UniProtKB/Swiss-Prot
  B4DDR3 ENTREZGENE, UniProtKB/TrEMBL
  E9PQK6_HUMAN UniProtKB/TrEMBL
  G3V1C3_HUMAN UniProtKB/TrEMBL
  H0YER7_HUMAN UniProtKB/TrEMBL
  Q9BZZ5 ENTREZGENE
UniProt Secondary B4DGR0 UniProtKB/Swiss-Prot
  B4DRJ2 UniProtKB/Swiss-Prot
  B4E283 UniProtKB/Swiss-Prot
  D3DR21 UniProtKB/Swiss-Prot
  E7ETZ6 UniProtKB/TrEMBL
  O15441 UniProtKB/Swiss-Prot
  Q9Y4J7 UniProtKB/Swiss-Prot