ASAP1 (ArfGAP with SH3 domain, ankyrin repeat and PH domain 1) - Rat Genome Database

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Gene: ASAP1 (ArfGAP with SH3 domain, ankyrin repeat and PH domain 1) Homo sapiens
Analyze
Symbol: ASAP1
Name: ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
RGD ID: 1354069
HGNC Page HGNC
Description: Exhibits cadherin binding activity. Involved in cilium assembly. Predicted to localize to cell projection membrane and podosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein; 130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein; ADP-ribosylation factor-directed GTPase-activating protein 1; AMAP1; ARF GTPase-activating protein 1; arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1; centaurin, beta 4; CENTB4; DDEF1; DEF-1; development and differentiation enhancing factor 1; development and differentiation-enhancing factor 1; differentiation-enhancing factor 1; KIAA1249; PAG2; PAP; PIP2-dependent ARF1 GAP; ZG14P
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh38.p13 Ensembl8130,052,104 - 130,443,674 (-)EnsemblGRCh38hg38GRCh38
GRCh388130,052,104 - 130,443,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378131,064,350 - 131,455,920 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368131,133,535 - 131,483,399 (-)NCBINCBI36hg18NCBI36
Build 348131,133,534 - 131,483,399NCBI
Celera8127,244,326 - 127,594,327 (-)NCBI
Cytogenetic Map8q24.21-q24.22NCBI
HuRef8126,384,999 - 126,734,847 (-)NCBIHuRef
CHM1_18131,103,607 - 131,496,464 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9819391   PMID:10574462   PMID:11773070   PMID:12029088   PMID:12058076   PMID:12149250   PMID:12477932   PMID:12522101   PMID:12672817   PMID:12771146   PMID:14702039   PMID:15090612  
PMID:15632162   PMID:15719014   PMID:15897555   PMID:16038802   PMID:16223492   PMID:16332543   PMID:16344560   PMID:16421571   PMID:16527809   PMID:16636290   PMID:17255943   PMID:17474147  
PMID:17893324   PMID:18094045   PMID:18400762   PMID:18519696   PMID:18685082   PMID:18786926   PMID:18843202   PMID:19017632   PMID:19041431   PMID:19322201   PMID:19380743   PMID:19525955  
PMID:19531213   PMID:20154719   PMID:20393563   PMID:20697350   PMID:20936779   PMID:21352810   PMID:21706016   PMID:21858086   PMID:21873635   PMID:21988832   PMID:22734003   PMID:23414517  
PMID:24116160   PMID:24427349   PMID:24788532   PMID:24865276   PMID:25468996   PMID:25673879   PMID:25774636   PMID:25921289   PMID:26186194   PMID:26893376   PMID:27227929   PMID:27694689  
PMID:27880917   PMID:27910913   PMID:28430047   PMID:28514442   PMID:28718761   PMID:28834540   PMID:29117863   PMID:29467282   PMID:29507755   PMID:29568061   PMID:30509302   PMID:31089398  
PMID:31591270   PMID:31838741   PMID:31980649   PMID:32203420   PMID:32235890   PMID:32307199   PMID:32444496   PMID:33639150  


Genomics

Comparative Map Data
ASAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8130,052,104 - 130,443,674 (-)EnsemblGRCh38hg38GRCh38
GRCh388130,052,104 - 130,443,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378131,064,350 - 131,455,920 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368131,133,535 - 131,483,399 (-)NCBINCBI36hg18NCBI36
Build 348131,133,534 - 131,483,399NCBI
Celera8127,244,326 - 127,594,327 (-)NCBI
Cytogenetic Map8q24.21-q24.22NCBI
HuRef8126,384,999 - 126,734,847 (-)NCBIHuRef
CHM1_18131,103,607 - 131,496,464 (-)NCBICHM1_1
Asap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391563,958,689 - 64,254,922 (-)NCBIGRCm39mm39
GRCm39 Ensembl1563,958,706 - 64,254,768 (-)Ensembl
GRCm381564,086,840 - 64,382,941 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1564,086,857 - 64,382,919 (-)EnsemblGRCm38mm10GRCm38
MGSCv371563,920,101 - 64,214,481 (-)NCBIGRCm37mm9NCBIm37
MGSCv361563,918,212 - 64,212,592 (-)NCBImm8
Celera1565,591,405 - 65,885,771 (-)NCBICelera
Cytogenetic Map15D1NCBI
Asap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2795,786,130 - 96,093,111 (-)NCBI
Rnor_6.0 Ensembl7104,669,672 - 104,801,045 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07104,670,076 - 104,951,090 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0791,673,052 - 91,955,738 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47101,303,973 - 101,575,856 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17101,337,297 - 101,575,548 (-)NCBI
Celera792,385,527 - 92,648,016 (-)NCBICelera
Cytogenetic Map7q33NCBI
Asap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554614,811,069 - 5,133,257 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554614,813,228 - 5,083,548 (-)NCBIChiLan1.0ChiLan1.0
ASAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18129,420,586 - 130,028,270 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8129,418,796 - 130,021,261 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08126,688,608 - 127,080,662 (-)NCBIMhudiblu_PPA_v0panPan3
ASAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11327,111,785 - 27,468,476 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1327,113,994 - 27,430,758 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1327,078,250 - 27,434,794 (-)NCBI
ROS_Cfam_1.01327,456,229 - 27,813,403 (-)NCBI
UMICH_Zoey_3.11327,172,486 - 27,529,425 (-)NCBI
UNSW_CanFamBas_1.01327,291,577 - 27,648,950 (-)NCBI
UU_Cfam_GSD_1.01327,593,113 - 27,950,475 (-)NCBI
Asap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530310,913,682 - 11,214,295 (+)NCBI
SpeTri2.0NW_00493647018,340,120 - 18,640,396 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl410,140,124 - 10,451,929 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1410,103,860 - 10,451,928 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2410,385,433 - 10,423,543 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASAP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18124,515,274 - 124,912,076 (-)NCBI
ChlSab1.1 Ensembl8124,514,210 - 124,869,668 (-)Ensembl
Vero_WHO_p1.0NW_02366603915,203,778 - 15,599,896 (+)NCBI
Asap1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473525,410,002 - 25,732,847 (+)NCBI

Position Markers
STS-N34678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,064,583 - 131,064,735UniSTSGRCh37
Build 368131,133,765 - 131,133,917RGDNCBI36
Celera8127,244,556 - 127,244,708RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,385,232 - 126,385,384UniSTS
GeneMap99-GB4 RH Map8498.92UniSTS
NCBI RH Map81499.1UniSTS
RH103067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,065,836 - 131,065,988UniSTSGRCh37
Build 368131,135,018 - 131,135,170RGDNCBI36
Celera8127,245,809 - 127,245,961RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,386,485 - 126,386,637UniSTS
GeneMap99-GB4 RH Map8498.19UniSTS
RH119359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,344,450 - 131,344,794UniSTSGRCh37
Build 368131,413,632 - 131,413,976RGDNCBI36
Celera8127,524,600 - 127,524,944RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,664,895 - 126,665,239UniSTS
TNG Radiation Hybrid Map864024.0UniSTS
D8S1435E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,066,303 - 131,066,402UniSTSGRCh37
Build 368131,135,485 - 131,135,584RGDNCBI36
Celera8127,246,276 - 127,246,375RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,386,952 - 126,387,051UniSTS
SHGC-111562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,176,028 - 131,176,321UniSTSGRCh37
Build 368131,245,210 - 131,245,503RGDNCBI36
Celera8127,356,171 - 127,356,464RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,496,661 - 126,496,954UniSTS
SHGC-144582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,339,289 - 131,339,593UniSTSGRCh37
Build 368131,408,471 - 131,408,775RGDNCBI36
Celera8127,519,438 - 127,519,742RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,659,733 - 126,660,037UniSTS
TNG Radiation Hybrid Map864011.0UniSTS
SHGC-145025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,125,647 - 131,125,922UniSTSGRCh37
Build 368131,194,829 - 131,195,104RGDNCBI36
Celera8127,305,785 - 127,306,060RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,446,284 - 126,446,559UniSTS
RH16451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,329,493 - 131,329,619UniSTSGRCh37
Build 368131,398,675 - 131,398,801RGDNCBI36
Celera8127,509,643 - 127,509,769RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,649,937 - 126,650,063UniSTS
GeneMap99-GB4 RH Map8500.97UniSTS
NCBI RH Map81502.7UniSTS
D8S1921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,065,117 - 131,065,252UniSTSGRCh37
Build 368131,134,299 - 131,134,434RGDNCBI36
Celera8127,245,090 - 127,245,225RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,385,766 - 126,385,901UniSTS
GeneMap99-G3 RH Map84079.0UniSTS
D8S344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,076,983 - 131,077,295UniSTSGRCh37
Build 368131,146,165 - 131,146,477RGDNCBI36
Celera8127,257,043 - 127,257,355RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,397,632 - 126,397,944UniSTS
D8S1945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,065,153 - 131,065,252UniSTSGRCh37
Build 368131,134,335 - 131,134,434RGDNCBI36
Celera8127,245,126 - 127,245,225RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,385,802 - 126,385,901UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH69822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,161,704 - 131,161,854UniSTSGRCh37
Build 368131,230,886 - 131,231,036RGDNCBI36
Celera8127,341,839 - 127,341,989RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,482,341 - 126,482,491UniSTS
GeneMap99-GB4 RH Map8500.97UniSTS
NCBI RH Map81502.7UniSTS
SHGC-58182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,255,991 - 131,256,196UniSTSGRCh37
Build 368131,325,173 - 131,325,378RGDNCBI36
Celera8127,436,141 - 127,436,346RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,576,432 - 126,576,637UniSTS
TNG Radiation Hybrid Map863983.0UniSTS
SGC38391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,322,791 - 131,323,039UniSTSGRCh37
Build 368131,391,973 - 131,392,221RGDNCBI36
Celera8127,502,941 - 127,503,189RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,643,235 - 126,643,483UniSTS
GeneMap99-GB4 RH Map8501.6UniSTS
Whitehead-RH Map8656.1UniSTS
NCBI RH Map81507.9UniSTS
WI-3886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,087,381 - 131,087,607UniSTSGRCh37
Build 368131,156,563 - 131,156,789RGDNCBI36
Celera8127,267,528 - 127,267,754RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,408,066 - 126,408,292UniSTS
Whitehead-RH Map8650.9UniSTS
SHGC-34037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,329,777 - 131,329,905UniSTSGRCh37
Build 368131,398,959 - 131,399,087RGDNCBI36
Celera8127,509,927 - 127,510,055RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,650,221 - 126,650,349UniSTS
TNG Radiation Hybrid Map863957.0UniSTS
Stanford-G3 RH Map83971.0UniSTS
GeneMap99-GB4 RH Map8500.45UniSTS
Whitehead-RH Map8648.9UniSTS
NCBI RH Map81503.5UniSTS
GeneMap99-G3 RH Map84061.0UniSTS
G17258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,069,271 - 131,069,545UniSTSGRCh37
Build 368131,138,453 - 131,138,727RGDNCBI36
Celera8127,249,244 - 127,249,518RGD
Cytogenetic Map8q24.1-q24.2UniSTS
HuRef8126,389,920 - 126,390,194UniSTS
DDEF1_4682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,065,922 - 131,066,692UniSTSGRCh37
Build 368131,135,104 - 131,135,874RGDNCBI36
Celera8127,245,895 - 127,246,665RGD
HuRef8126,386,571 - 126,387,341UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7322
Count of miRNA genes:1333
Interacting mature miRNAs:1728
Transcripts:ENST00000357668, ENST00000518721, ENST00000518957, ENST00000519169, ENST00000519483, ENST00000520189, ENST00000520342, ENST00000520625, ENST00000520927, ENST00000521057, ENST00000521075, ENST00000521426, ENST00000524018, ENST00000524124, ENST00000524299, ENST00000524367
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
High
Medium 1820 2542 1290 167 1662 122 3607 1226 1950 207 1364 1571 59 1201 2071 4
Low 612 442 432 454 287 341 748 969 1758 211 89 38 113 1 3 717 1
Below cutoff 1 3 2 1 2 14 7 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001247996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF222859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI494058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI656533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW236866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW236958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG118567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG748866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ645913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA315979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA319233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA416332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357668   ⟹   ENSP00000350297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,052,107 - 130,443,660 (-)Ensembl
RefSeq Acc Id: ENST00000518721   ⟹   ENSP00000429900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,052,104 - 130,443,674 (-)Ensembl
RefSeq Acc Id: ENST00000518957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,195,113 - 130,214,624 (-)Ensembl
RefSeq Acc Id: ENST00000519169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,179,118 - 130,236,996 (-)Ensembl
RefSeq Acc Id: ENST00000519483   ⟹   ENSP00000429829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,054,741 - 130,118,522 (-)Ensembl
RefSeq Acc Id: ENST00000520189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,076,397 - 130,112,414 (-)Ensembl
RefSeq Acc Id: ENST00000520342   ⟹   ENSP00000428936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,179,335 - 130,247,042 (-)Ensembl
RefSeq Acc Id: ENST00000520625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,360,689 - 130,401,915 (-)Ensembl
RefSeq Acc Id: ENST00000520927   ⟹   ENSP00000428629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,180,867 - 130,427,802 (-)Ensembl
RefSeq Acc Id: ENST00000521057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,115,577 - 130,118,779 (-)Ensembl
RefSeq Acc Id: ENST00000521075   ⟹   ENSP00000428463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,052,842 - 130,401,968 (-)Ensembl
RefSeq Acc Id: ENST00000521426   ⟹   ENSP00000430917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,214,645 - 130,386,877 (-)Ensembl
RefSeq Acc Id: ENST00000524018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,152,605 - 130,160,063 (-)Ensembl
RefSeq Acc Id: ENST00000524124   ⟹   ENSP00000429391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,052,104 - 130,180,862 (-)Ensembl
RefSeq Acc Id: ENST00000524299   ⟹   ENSP00000429614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,214,618 - 130,443,537 (-)Ensembl
RefSeq Acc Id: ENST00000524367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8130,152,764 - 130,340,937 (-)Ensembl
RefSeq Acc Id: NM_001247996   ⟹   NP_001234925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,443,674 (-)NCBI
GRCh378131,064,350 - 131,455,906 (-)NCBI
HuRef8126,384,999 - 126,734,847 (-)NCBI
CHM1_18131,103,607 - 131,496,464 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362924   ⟹   NP_001349853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,443,660 (-)NCBI
RefSeq Acc Id: NM_001362925   ⟹   NP_001349854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,443,674 (-)NCBI
RefSeq Acc Id: NM_001362926   ⟹   NP_001349855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,443,674 (-)NCBI
RefSeq Acc Id: NM_018482   ⟹   NP_060952
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,443,674 (-)NCBI
GRCh378131,064,350 - 131,455,906 (-)NCBI
Build 368131,133,535 - 131,483,399 (-)NCBI Archive
HuRef8126,384,999 - 126,734,847 (-)NCBI
CHM1_18131,103,607 - 131,496,464 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716563   ⟹   XP_006716626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,427,753 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716564   ⟹   XP_006716627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,443,536 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716565   ⟹   XP_006716628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,358,107 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517052   ⟹   XP_011515354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,409,060 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517053   ⟹   XP_011515355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,386,877 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013467   ⟹   XP_016868956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,357,933 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013468   ⟹   XP_016868957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,052,104 - 130,443,848 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060952   ⟸   NM_018482
- Peptide Label: isoform 1
- UniProtKB: Q9ULH1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001234925   ⟸   NM_001247996
- Peptide Label: isoform 2
- UniProtKB: Q9ULH1 (UniProtKB/Swiss-Prot),   A0A0A0MRE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716627   ⟸   XM_006716564
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006716626   ⟸   XM_006716563
- Peptide Label: isoform X1
- UniProtKB: Q9ULH1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716628   ⟸   XM_006716565
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011515354   ⟸   XM_011517052
- Peptide Label: isoform X1
- UniProtKB: Q9ULH1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515355   ⟸   XM_011517053
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868957   ⟸   XM_017013468
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016868956   ⟸   XM_017013467
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001349855   ⟸   NM_001362926
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001349854   ⟸   NM_001362925
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001349853   ⟸   NM_001362924
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000429900   ⟸   ENST00000518721
RefSeq Acc Id: ENSP00000429829   ⟸   ENST00000519483
RefSeq Acc Id: ENSP00000428936   ⟸   ENST00000520342
RefSeq Acc Id: ENSP00000428629   ⟸   ENST00000520927
RefSeq Acc Id: ENSP00000428463   ⟸   ENST00000521075
RefSeq Acc Id: ENSP00000430917   ⟸   ENST00000521426
RefSeq Acc Id: ENSP00000429614   ⟸   ENST00000524299
RefSeq Acc Id: ENSP00000429391   ⟸   ENST00000524124
RefSeq Acc Id: ENSP00000350297   ⟸   ENST00000357668
Protein Domains
ANK_REP_REGION   Arf-GAP   PH   SH3

Promoters
RGD ID:7214187
Promoter ID:EPDNEW_H12840
Type:initiation region
Name:ASAP1_1
Description:ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12841  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,180,783 - 130,180,843EPDNEW
RGD ID:7214191
Promoter ID:EPDNEW_H12841
Type:initiation region
Name:ASAP1_2
Description:ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12840  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,401,975 - 130,402,035EPDNEW
RGD ID:6813350
Promoter ID:HG_ACW:78932
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:DDEF1.GAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 368131,439,636 - 131,440,337 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:130030535-130742761)x3 copy number gain See cases [RCV000135813] Chr8:130030535..130742761 [GRCh38]
Chr8:131042781..131755007 [GRCh37]
Chr8:131111963..131824189 [NCBI36]
Chr8:8q24.21-24.22
uncertain significance
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:130012847-130639241)x1 copy number loss See cases [RCV000138137] Chr8:130012847..130639241 [GRCh38]
Chr8:131025093..131651487 [GRCh37]
Chr8:131094275..131720669 [NCBI36]
Chr8:8q24.21-24.22
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:130012847-130655332)x1 copy number loss See cases [RCV000138371] Chr8:130012847..130655332 [GRCh38]
Chr8:131025093..131667578 [GRCh37]
Chr8:131094275..131736760 [NCBI36]
Chr8:8q24.21-24.22
uncertain significance
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.21(chr8:129867902-130095015)x3 copy number gain See cases [RCV000140253] Chr8:129867902..130095015 [GRCh38]
Chr8:130880148..131107261 [GRCh37]
Chr8:130949330..131176443 [NCBI36]
Chr8:8q24.21
uncertain significance
GRCh38/hg38 8q24.21(chr8:129867902-130095015)x4 copy number gain See cases [RCV000140254] Chr8:129867902..130095015 [GRCh38]
Chr8:130880148..131107261 [GRCh37]
Chr8:8q24.21
uncertain significance
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.21(chr8:130818619-131117179)x3 copy number gain not provided [RCV000762742] Chr8:130818619..131117179 [GRCh37]
Chr8:8q24.21
likely benign
GRCh37/hg19 8q24.21(chr8:130866512-131107094)x3 copy number gain Premature ovarian failure [RCV000225313] Chr8:130866512..131107094 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.21(chr8:130864817-131107261)x3 copy number gain See cases [RCV000447387] Chr8:130864817..131107261 [GRCh37]
Chr8:8q24.21
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1 copy number loss See cases [RCV000448960] Chr8:128295596..133200773 [GRCh37]
Chr8:8q24.21-24.22
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3 copy number gain See cases [RCV000511900] Chr8:131025817..133947836 [GRCh37]
Chr8:8q24.21-24.22
uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:131021126-131666266)x1 copy number loss See cases [RCV000511778] Chr8:131021126..131666266 [GRCh37]
Chr8:8q24.21-24.22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.21(chr8:130854451-131123753)x3 copy number gain not provided [RCV000747841] Chr8:130854451..131123753 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.21(chr8:130868363-131123753)x3 copy number gain not provided [RCV000747842] Chr8:130868363..131123753 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.21(chr8:131359644-131371106)x1 copy number loss not provided [RCV000747844] Chr8:131359644..131371106 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.21(chr8:131359644-131371106)x3 copy number gain not provided [RCV000747845] Chr8:131359644..131371106 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.21(chr8:131370231-131371106)x1 copy number loss not provided [RCV000747846] Chr8:131370231..131371106 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.21(chr8:131370231-131377219)x3 copy number gain not provided [RCV000747847] Chr8:131370231..131377219 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.21(chr8:131370559-131371106)x0 copy number loss not provided [RCV000747848] Chr8:131370559..131371106 [GRCh37]
Chr8:8q24.21
benign
NM_018482.4(ASAP1):c.1169-16dup duplication not provided [RCV000948344] Chr8:130134351..130134352 [GRCh38]
Chr8:131146597..131146598 [GRCh37]
Chr8:8q24.21
benign
NM_018482.4(ASAP1):c.789G>A (p.Gln263=) single nucleotide variant not provided [RCV000948345] Chr8:130169025 [GRCh38]
Chr8:131181271 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2720 AgrOrtholog
COSMIC ASAP1 COSMIC
Ensembl Genes ENSG00000153317 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000350297 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000428463 UniProtKB/TrEMBL
  ENSP00000428629 UniProtKB/TrEMBL
  ENSP00000428936 UniProtKB/TrEMBL
  ENSP00000429391 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000429614 UniProtKB/TrEMBL
  ENSP00000429829 UniProtKB/TrEMBL
  ENSP00000429900 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430917 UniProtKB/TrEMBL
Ensembl Transcript ENST00000357668 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000518721 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519483 UniProtKB/TrEMBL
  ENST00000520342 UniProtKB/TrEMBL
  ENST00000520927 UniProtKB/TrEMBL
  ENST00000521075 UniProtKB/TrEMBL
  ENST00000521426 UniProtKB/TrEMBL
  ENST00000524124 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000524299 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000153317 GTEx
HGNC ID HGNC:2720 ENTREZGENE
Human Proteome Map ASAP1 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARFGAP/RecO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArfGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArfGAP_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASAP1_BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASAP1_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_ASAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50807 UniProtKB/Swiss-Prot
NCBI Gene 50807 ENTREZGENE
OMIM 605953 OMIM
PANTHER PTHR45854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArfGap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164716055 PharmGKB
PRINTS REVINTRACTNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3DOMAIN UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARFGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArfGap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57863 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRE5 ENTREZGENE, UniProtKB/TrEMBL
  ASAP1_HUMAN UniProtKB/Swiss-Prot
  E5RFD9_HUMAN UniProtKB/TrEMBL
  E5RHA9_HUMAN UniProtKB/TrEMBL
  E5RHD7_HUMAN UniProtKB/TrEMBL
  H0YBF7_HUMAN UniProtKB/TrEMBL
  H0YBM4_HUMAN UniProtKB/TrEMBL
  L8E8W2_HUMAN UniProtKB/TrEMBL
  Q8WWA4_HUMAN UniProtKB/TrEMBL
  Q9ULH1 ENTREZGENE
UniProt Secondary B2RNV3 UniProtKB/Swiss-Prot