AGAP3 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 3) - Rat Genome Database

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Gene: AGAP3 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 3) Homo sapiens
Analyze
Symbol: AGAP3
Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
RGD ID: 1321839
HGNC Page HGNC:16923
Description: Predicted to enable GTPase activator activity; GTPase activity; and polyubiquitin modification-dependent protein binding activity. Predicted to act upstream of or within cellular response to reactive oxygen species; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein import into nucleus. Predicted to be located in cell periphery and cytoplasm. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AGAP-3; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3; centaurin, gamma 3; centaurin-gamma-3; CENTG3; cnt-g3; CRAG; CRAM-associated GTPase; CRMP (collapsin response mediator protein) associated; FLJ16146; FLJ34452; MR1-interacting protein; MRIP-1
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
GRCh387151,085,867 - 151,144,434 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7151,085,831 - 151,144,436 (+)EnsemblGRCh38hg38GRCh38
GRCh377150,782,954 - 150,841,521 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,414,759 - 150,472,456 (+)NCBINCBI36Build 36hg18NCBI36
Build 347150,221,473 - 150,279,171NCBI
Celera7145,341,154 - 145,398,859 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,594,965 - 144,653,057 (+)NCBIHuRef
CHM1_17150,791,315 - 150,849,895 (+)NCBICHM1_1
T2T-CHM13v2.07152,258,976 - 152,317,511 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27150,112,452 - 150,171,043 (+)NCBI
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

Cellular Component
cell periphery  (ISO)
cytoplasm  (IEA,ISO)
nucleus  (IBA,IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12640130   PMID:12690205   PMID:14506264   PMID:14702039   PMID:15381706   PMID:16344560   PMID:16461359   PMID:16964243   PMID:21653829   PMID:21832068   PMID:21873635  
PMID:22199357   PMID:23904596   PMID:24255178   PMID:25277244   PMID:25476789   PMID:25544563   PMID:25921289   PMID:26046097   PMID:26186194   PMID:27173435   PMID:28380382   PMID:28514442  
PMID:28611215   PMID:29117863   PMID:29509190   PMID:29791485   PMID:30397336   PMID:30591445   PMID:31527615   PMID:31753913   PMID:31980649   PMID:32123171   PMID:32203420   PMID:32707033  
PMID:33239621   PMID:33961781   PMID:34079125   PMID:34398495   PMID:35256949   PMID:35271311   PMID:35748872   PMID:35831314   PMID:35844135   PMID:35914814   PMID:35944360   PMID:36114006  
PMID:36168627   PMID:36215168   PMID:36273042   PMID:36931259   PMID:37499664   PMID:37827155   PMID:38071109   PMID:38113892   PMID:38117590  


Genomics

Comparative Map Data
AGAP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387151,085,867 - 151,144,434 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7151,085,831 - 151,144,436 (+)EnsemblGRCh38hg38GRCh38
GRCh377150,782,954 - 150,841,521 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,414,759 - 150,472,456 (+)NCBINCBI36Build 36hg18NCBI36
Build 347150,221,473 - 150,279,171NCBI
Celera7145,341,154 - 145,398,859 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,594,965 - 144,653,057 (+)NCBIHuRef
CHM1_17150,791,315 - 150,849,895 (+)NCBICHM1_1
T2T-CHM13v2.07152,258,976 - 152,317,511 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27150,112,452 - 150,171,043 (+)NCBI
Agap3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39524,657,175 - 24,707,045 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl524,657,175 - 24,707,045 (+)EnsemblGRCm39 Ensembl
GRCm38524,452,177 - 24,502,047 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl524,452,177 - 24,502,047 (+)EnsemblGRCm38mm10GRCm38
MGSCv37523,957,995 - 24,007,865 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36523,962,242 - 24,012,112 (+)NCBIMGSCv36mm8
Celera521,394,522 - 21,452,021 (+)NCBICelera
Cytogenetic Map5A3NCBI
cM Map511.81NCBI
Agap3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8411,567,191 - 11,617,610 (-)NCBIGRCr8
mRatBN7.2410,674,746 - 10,724,848 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl410,674,064 - 10,725,244 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx415,820,842 - 15,871,089 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0411,641,034 - 11,691,279 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.049,992,816 - 10,043,063 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.047,202,330 - 7,253,386 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl47,202,330 - 7,253,072 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.047,213,697 - 7,264,499 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.446,038,279 - 6,064,813 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.146,039,389 - 6,093,727 (-)NCBI
Celera46,288,813 - 6,315,118 (-)NCBICelera
Cytogenetic Map4q11NCBI
Agap3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554915,523,969 - 5,573,387 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554915,546,097 - 5,573,866 (+)NCBIChiLan1.0ChiLan1.0
AGAP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26187,507,834 - 187,566,328 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1739,518,132 - 39,576,595 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07142,672,773 - 142,731,261 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17154,825,594 - 154,884,340 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7154,822,312 - 154,884,339 (+)Ensemblpanpan1.1panPan2
AGAP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11615,163,705 - 15,193,053 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1615,137,024 - 15,193,538 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1615,744,734 - 15,801,147 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01616,858,855 - 16,915,349 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1616,858,468 - 16,915,324 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11615,231,701 - 15,287,508 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01615,813,103 - 15,868,934 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01615,863,297 - 15,919,795 (+)NCBIUU_Cfam_GSD_1.0
Agap3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244051186,339,801 - 6,393,200 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365276,510,223 - 6,563,154 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365276,510,223 - 6,563,656 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGAP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl186,081,681 - 6,145,522 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1186,081,680 - 6,145,115 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2186,445,525 - 6,502,093 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AGAP3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121119,268,918 - 119,327,623 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607215,239,703 - 15,298,444 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agap3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248005,487,200 - 5,535,707 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248005,486,728 - 5,535,691 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGAP3
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1 copy number loss See cases [RCV000050552] Chr7:150319864..152674271 [GRCh38]
Chr7:150016953..152371356 [GRCh37]
Chr7:149647886..152002289 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 copy number loss See cases [RCV000054189] Chr7:148256584..152332535 [GRCh38]
Chr7:147953676..152029620 [GRCh37]
Chr7:147584609..151660553 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_001098834.2(GBX1):c.835G>A (p.Glu279Lys) single nucleotide variant Malignant melanoma [RCV000067779] Chr7:151148846 [GRCh38]
Chr7:150845933 [GRCh37]
Chr7:150476866 [NCBI36]
Chr7:7q36.1		 not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 copy number gain See cases [RCV000135825] Chr7:147345844..153833351 [GRCh38]
Chr7:147042936..153530436 [GRCh37]
Chr7:146673869..153161369 [NCBI36]
Chr7:7q35-36.2		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3 copy number gain See cases [RCV000136683] Chr7:151104277..159325876 [GRCh38]
Chr7:150801364..159118566 [GRCh37]
Chr7:150432297..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 copy number gain See cases [RCV000138566] Chr7:150113232..154162779 [GRCh38]
Chr7:149810321..153859864 [GRCh37]
Chr7:149441254..153490797 [NCBI36]
Chr7:7q36.1-36.2		 likely pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3 copy number gain See cases [RCV000139660] Chr7:150275734..153342804 [GRCh38]
Chr7:149972823..153039889 [GRCh37]
Chr7:149603756..152670822 [NCBI36]
Chr7:7q36.1-36.2		 uncertain significance
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_031946.7(AGAP3):c.80del (p.Ala27fs) deletion not provided [RCV000401520] Chr7:151086821 [GRCh38]
Chr7:150783908 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 copy number gain See cases [RCV000447776] Chr7:149261179..159075020 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4 copy number gain See cases [RCV000511618] Chr7:148189771..150867270 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3 copy number gain See cases [RCV000510762] Chr7:150553743..159119707 [GRCh37]
Chr7:7q36.1-36.3		 likely pathogenic
NC_000007.13:g.(?_150642433)_(151573725_?)del deletion Long QT syndrome [RCV000631876] Chr7:150642433..151573725 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1		 benign
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3 copy number gain not provided [RCV000847582] Chr7:149968222..152539376 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.974C>T (p.Thr325Met) single nucleotide variant Inborn genetic diseases [RCV003249368] Chr7:151119991 [GRCh38]
Chr7:150817078 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1 copy number loss not provided [RCV002472413] Chr7:149332630..151498689 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NC_000007.13:g.(?_150642443)_(151385353_?)dup duplication Long QT syndrome [RCV001031214] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.756C>T (p.Arg252=) single nucleotide variant not provided [RCV001693270] Chr7:151118259 [GRCh38]
Chr7:150815346 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3		 not provided
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NC_000007.13:g.(?_150642453)_(152373165_?)dup duplication Long QT syndrome [RCV001327691] Chr7:150642453..152373165 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642443)_(151385353_?)del deletion Long QT syndrome [RCV001380536] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1 copy number loss Kleefstra syndrome 2 [RCV001801228] Chr7:150745923..152373214 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1 copy number loss not provided [RCV001832910] Chr7:148695373..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 copy number gain not provided [RCV001827941] Chr7:148153261..157543640 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NC_000007.13:g.(?_150642453)_(151573705_?)dup duplication Lethal congenital glycogen storage disease of heart [RCV001978713] Chr7:150642453..151573705 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150307047)_(152613597_?)del deletion not provided [RCV003113787] Chr7:150307047..152613597 [GRCh37]
Chr7:7q36.1-36.2		 pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)del deletion not provided [RCV003113606] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)dup duplication not provided [RCV003113607] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642453)_(151573705_?)del deletion Lethal congenital glycogen storage disease of heart [RCV003119718] Chr7:150642453..151573705 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1 copy number loss not provided [RCV002279756] Chr7:149062717..159124131 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_031946.7(AGAP3):c.1238G>A (p.Arg413Gln) single nucleotide variant Inborn genetic diseases [RCV002733984] Chr7:151128596 [GRCh38]
Chr7:150825683 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1828G>T (p.Val610Leu) single nucleotide variant Inborn genetic diseases [RCV002974627] Chr7:151141921 [GRCh38]
Chr7:150839008 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1165G>A (p.Ala389Thr) single nucleotide variant Inborn genetic diseases [RCV002990871] Chr7:151123830 [GRCh38]
Chr7:150820917 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.516G>T (p.Gln172His) single nucleotide variant Inborn genetic diseases [RCV002752730] Chr7:151117408 [GRCh38]
Chr7:150814495 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1240A>C (p.Ser414Arg) single nucleotide variant Inborn genetic diseases [RCV002734051] Chr7:151128598 [GRCh38]
Chr7:150825685 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1571G>A (p.Arg524His) single nucleotide variant Inborn genetic diseases [RCV002737713] Chr7:151138218 [GRCh38]
Chr7:150835305 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1508C>T (p.Ser503Leu) single nucleotide variant Inborn genetic diseases [RCV002761925] Chr7:151138155 [GRCh38]
Chr7:150835242 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.149C>T (p.Ser50Leu) single nucleotide variant Inborn genetic diseases [RCV002743874] Chr7:151086890 [GRCh38]
Chr7:150783977 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.946A>G (p.Ile316Val) single nucleotide variant Inborn genetic diseases [RCV002956046] Chr7:151118609 [GRCh38]
Chr7:150815696 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1031G>A (p.Ser344Asn) single nucleotide variant Inborn genetic diseases [RCV002898289] Chr7:151120048 [GRCh38]
Chr7:150817135 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1823A>G (p.Glu608Gly) single nucleotide variant Inborn genetic diseases [RCV002717652] Chr7:151141916 [GRCh38]
Chr7:150839003 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1654A>G (p.Met552Val) single nucleotide variant Inborn genetic diseases [RCV003175422] Chr7:151138301 [GRCh38]
Chr7:150835388 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.2699C>T (p.Pro900Leu) single nucleotide variant Inborn genetic diseases [RCV003217092] Chr7:151143906 [GRCh38]
Chr7:150840993 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.2168C>T (p.Pro723Leu) single nucleotide variant Inborn genetic diseases [RCV003201727] Chr7:151142529 [GRCh38]
Chr7:150839616 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.2690G>A (p.Gly897Asp) single nucleotide variant Inborn genetic diseases [RCV003175663] Chr7:151143897 [GRCh38]
Chr7:150840984 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.2455G>A (p.Asp819Asn) single nucleotide variant Inborn genetic diseases [RCV003193645] Chr7:151143522 [GRCh38]
Chr7:150840609 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1943G>A (p.Arg648His) single nucleotide variant Inborn genetic diseases [RCV003173909] Chr7:151142036 [GRCh38]
Chr7:150839123 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.172C>T (p.Pro58Ser) single nucleotide variant Inborn genetic diseases [RCV003260128] Chr7:151086913 [GRCh38]
Chr7:150784000 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.931G>A (p.Val311Met) single nucleotide variant Inborn genetic diseases [RCV003203391] Chr7:151118594 [GRCh38]
Chr7:150815681 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.2099G>A (p.Cys700Tyr) single nucleotide variant Inborn genetic diseases [RCV003219387] Chr7:151142460 [GRCh38]
Chr7:150839547 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
NM_031946.7(AGAP3):c.2041G>A (p.Asp681Asn) single nucleotide variant Inborn genetic diseases [RCV003351285] Chr7:151142244 [GRCh38]
Chr7:150839331 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.1519G>A (p.Ala507Thr) single nucleotide variant Inborn genetic diseases [RCV003350294] Chr7:151138166 [GRCh38]
Chr7:150835253 [GRCh37]
Chr7:7q36.1		 likely benign
NM_031946.7(AGAP3):c.1106A>G (p.Lys369Arg) single nucleotide variant Inborn genetic diseases [RCV003366833] Chr7:151120123 [GRCh38]
Chr7:150817210 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_031946.7(AGAP3):c.2560C>T (p.Arg854Trp) single nucleotide variant Inborn genetic diseases [RCV003376885] Chr7:151143767 [GRCh38]
Chr7:150840854 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1 copy number loss not provided [RCV003482992] Chr7:148538593..150967829 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 copy number loss not provided [RCV003482991] Chr7:144940098..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_031946.7(AGAP3):c.2040C>T (p.Cys680=) single nucleotide variant not provided [RCV003423834] Chr7:151142243 [GRCh38]
Chr7:150839330 [GRCh37]
Chr7:7q36.1		 likely benign
NM_031946.7(AGAP3):c.970-4T>G single nucleotide variant not provided [RCV003423833] Chr7:151119983 [GRCh38]
Chr7:150817070 [GRCh37]
Chr7:7q36.1		 likely benign
NM_031946.7(AGAP3):c.78C>A (p.Ala26=) single nucleotide variant not provided [RCV003435306] Chr7:151086819 [GRCh38]
Chr7:150783906 [GRCh37]
Chr7:7q36.1		 likely benign
NM_031946.7(AGAP3):c.2669C>T (p.Pro890Leu) single nucleotide variant not provided [RCV003435307] Chr7:151143876 [GRCh38]
Chr7:150840963 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1 copy number loss not specified [RCV003986691] Chr7:148896264..150963866 [GRCh37]
Chr7:7q36.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10009
Count of miRNA genes:1242
Interacting mature miRNAs:1654
Transcripts:ENST00000335367, ENST00000397238, ENST00000461065, ENST00000463179, ENST00000463381, ENST00000467250, ENST00000467724, ENST00000468796, ENST00000469901, ENST00000473140, ENST00000473312, ENST00000473633, ENST00000475145, ENST00000476375, ENST00000478320, ENST00000479901, ENST00000480106, ENST00000483971, ENST00000485904, ENST00000486946, ENST00000490097, ENST00000490839, ENST00000492234, ENST00000494808, ENST00000498559
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.

Markers in Region
GDB:4585228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,807,706 - 150,807,816UniSTSGRCh37
Build 367150,438,639 - 150,438,749RGDNCBI36
Celera7145,365,046 - 145,365,156RGD
Cytogenetic Map7q36.1UniSTS
HuRef7144,619,845 - 144,619,955UniSTS
CRA_TCAGchr7v27150,137,240 - 150,137,350UniSTS
RH66056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,814,739 - 150,814,897UniSTSGRCh37
Build 367150,445,672 - 150,445,830RGDNCBI36
Celera7145,372,080 - 145,372,238RGD
Cytogenetic Map7q36.1UniSTS
HuRef7144,626,281 - 144,626,439UniSTS
CRA_TCAGchr7v27150,144,265 - 150,144,423UniSTS
GeneMap99-GB4 RH Map7675.52UniSTS
AF021133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,818,322 - 150,818,521UniSTSGRCh37
Build 367150,449,255 - 150,449,454RGDNCBI36
Celera7145,375,663 - 145,375,862RGD
Cytogenetic Map7q36.1UniSTS
HuRef7144,629,864 - 144,630,063UniSTS
CRA_TCAGchr7v27150,147,848 - 150,148,047UniSTS
MARC_12833-12834:1000491720:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,814,794 - 150,815,666UniSTSGRCh37
Build 367150,445,727 - 150,446,599RGDNCBI36
Celera7145,372,135 - 145,373,007RGD
HuRef7144,626,336 - 144,627,208UniSTS
CRA_TCAGchr7v27150,144,320 - 150,145,192UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2371 1928 1514 441 992 283 4010 1611 3653 246 1398 1577 170 1202 2482 3
Low 61 1054 209 181 929 181 345 581 55 172 50 31 1 2 306 1
Below cutoff 2 19 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AACC02000108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF359283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF413079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU615528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA771207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335367   ⟹   ENSP00000335589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,114,678 - 151,123,638 (+)Ensembl
RefSeq Acc Id: ENST00000397238   ⟹   ENSP00000380413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,086,475 - 151,144,434 (+)Ensembl
RefSeq Acc Id: ENST00000461065   ⟹   ENSP00000417910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,134,425 - 151,144,436 (+)Ensembl
RefSeq Acc Id: ENST00000463179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,120,071 - 151,121,033 (+)Ensembl
RefSeq Acc Id: ENST00000463381   ⟹   ENSP00000418016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,085,867 - 151,144,434 (+)Ensembl
RefSeq Acc Id: ENST00000467250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,134,482 - 151,136,560 (+)Ensembl
RefSeq Acc Id: ENST00000467724   ⟹   ENSP00000419801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,117,754 - 151,122,878 (+)Ensembl
RefSeq Acc Id: ENST00000468796   ⟹   ENSP00000418159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,118,209 - 151,122,793 (+)Ensembl
RefSeq Acc Id: ENST00000469901   ⟹   ENSP00000417151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,087,067 - 151,118,278 (+)Ensembl
RefSeq Acc Id: ENST00000473140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,116,307 - 151,117,682 (+)Ensembl
RefSeq Acc Id: ENST00000473312   ⟹   ENSP00000418921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,086,742 - 151,123,635 (+)Ensembl
RefSeq Acc Id: ENST00000473633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,139,568 - 151,144,432 (+)Ensembl
RefSeq Acc Id: ENST00000475145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,120,016 - 151,123,850 (+)Ensembl
RefSeq Acc Id: ENST00000476375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,089,712 - 151,118,344 (+)Ensembl
RefSeq Acc Id: ENST00000478320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,128,577 - 151,138,116 (+)Ensembl
RefSeq Acc Id: ENST00000479901   ⟹   ENSP00000418125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,086,742 - 151,123,636 (+)Ensembl
RefSeq Acc Id: ENST00000480106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,118,268 - 151,120,143 (+)Ensembl
RefSeq Acc Id: ENST00000483971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,128,596 - 151,131,286 (+)Ensembl
RefSeq Acc Id: ENST00000485904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,123,622 - 151,138,286 (+)Ensembl
RefSeq Acc Id: ENST00000486946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,119,197 - 151,120,733 (+)Ensembl
RefSeq Acc Id: ENST00000490097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,085,831 - 151,117,776 (+)Ensembl
RefSeq Acc Id: ENST00000490839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,117,392 - 151,118,162 (+)Ensembl
RefSeq Acc Id: ENST00000492234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,112,184 - 151,118,333 (+)Ensembl
RefSeq Acc Id: ENST00000494808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,128,333 - 151,134,534 (+)Ensembl
RefSeq Acc Id: ENST00000498559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,118,294 - 151,123,876 (+)Ensembl
RefSeq Acc Id: ENST00000622464   ⟹   ENSP00000480655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,086,742 - 151,144,436 (+)Ensembl
RefSeq Acc Id: NM_001042535   ⟹   NP_001036000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,086,475 - 151,123,638 (+)NCBI
GRCh377150,782,918 - 150,841,523 (+)NCBI
Build 367150,414,759 - 150,451,658 (+)NCBI Archive
Celera7145,341,154 - 145,398,859 (+)RGD
HuRef7144,594,965 - 144,653,057 (+)NCBI
CHM1_17150,791,907 - 150,829,117 (+)NCBI
T2T-CHM13v2.07152,259,584 - 152,296,728 (+)NCBI
CRA_TCAGchr7v27150,112,452 - 150,171,043 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001281300   ⟹   NP_001268229
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,085,867 - 151,144,434 (+)NCBI
HuRef7144,594,965 - 144,653,057 (+)NCBI
CHM1_17150,791,315 - 150,849,895 (+)NCBI
T2T-CHM13v2.07152,258,976 - 152,317,511 (+)NCBI
CRA_TCAGchr7v27150,112,452 - 150,171,043 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308304   ⟹   NP_001295233
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,086,475 - 151,123,638 (+)NCBI
CHM1_17150,791,907 - 150,829,117 (+)NCBI
T2T-CHM13v2.07152,259,584 - 152,296,728 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308305   ⟹   NP_001295234
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,123,638 (+)NCBI
CHM1_17150,820,157 - 150,829,117 (+)NCBI
T2T-CHM13v2.07152,287,725 - 152,296,728 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350102   ⟹   NP_001337031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,086,475 - 151,144,434 (+)NCBI
T2T-CHM13v2.07152,259,584 - 152,317,511 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350103   ⟹   NP_001337032
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,086,475 - 151,144,434 (+)NCBI
T2T-CHM13v2.07152,259,584 - 152,317,511 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350104   ⟹   NP_001337033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,085,867 - 151,144,434 (+)NCBI
T2T-CHM13v2.07152,258,976 - 152,317,511 (+)NCBI
Sequence:
RefSeq Acc Id: NM_031946   ⟹   NP_114152
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,086,475 - 151,144,434 (+)NCBI
GRCh377150,782,918 - 150,841,523 (+)NCBI
Build 367150,414,759 - 150,472,456 (+)NCBI Archive
Celera7145,341,154 - 145,398,859 (+)RGD
HuRef7144,594,965 - 144,653,057 (+)NCBI
CHM1_17150,791,907 - 150,849,895 (+)NCBI
T2T-CHM13v2.07152,259,584 - 152,317,511 (+)NCBI
CRA_TCAGchr7v27150,112,452 - 150,171,043 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515780   ⟹   XP_011514082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,116,367 - 151,144,434 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419866   ⟹   XP_047275822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,144,434 (+)NCBI
RefSeq Acc Id: XM_047419867   ⟹   XP_047275823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,144,434 (+)NCBI
RefSeq Acc Id: XM_047419868   ⟹   XP_047275824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,144,434 (+)NCBI
RefSeq Acc Id: XM_047419869   ⟹   XP_047275825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,115,933 - 151,144,434 (+)NCBI
RefSeq Acc Id: XM_047419870   ⟹   XP_047275826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,086,475 - 151,144,434 (+)NCBI
RefSeq Acc Id: XM_047419871   ⟹   XP_047275827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,131,312 (+)NCBI
RefSeq Acc Id: XM_047419872   ⟹   XP_047275828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,138,097 (+)NCBI
RefSeq Acc Id: XM_047419873   ⟹   XP_047275829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,123,638 (+)NCBI
RefSeq Acc Id: XM_047419874   ⟹   XP_047275830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,123,638 (+)NCBI
RefSeq Acc Id: XM_047419875   ⟹   XP_047275831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,120,745 (+)NCBI
RefSeq Acc Id: XM_047419876   ⟹   XP_047275832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,120,745 (+)NCBI
RefSeq Acc Id: XM_047419877   ⟹   XP_047275833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,123,884 (+)NCBI
RefSeq Acc Id: XM_047419878   ⟹   XP_047275834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,123,638 (+)NCBI
RefSeq Acc Id: XM_054357206   ⟹   XP_054213181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,317,511 (+)NCBI
RefSeq Acc Id: XM_054357207   ⟹   XP_054213182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,317,511 (+)NCBI
RefSeq Acc Id: XM_054357208   ⟹   XP_054213183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,317,511 (+)NCBI
RefSeq Acc Id: XM_054357209   ⟹   XP_054213184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,259,584 - 152,317,511 (+)NCBI
RefSeq Acc Id: XM_054357210   ⟹   XP_054213185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,289,434 - 152,317,511 (+)NCBI
RefSeq Acc Id: XM_054357211   ⟹   XP_054213186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,289,020 - 152,317,511 (+)NCBI
RefSeq Acc Id: XM_054357212   ⟹   XP_054213187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,307,471 (+)NCBI
RefSeq Acc Id: XM_054357213   ⟹   XP_054213188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,311,174 (+)NCBI
RefSeq Acc Id: XM_054357214   ⟹   XP_054213189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,296,728 (+)NCBI
RefSeq Acc Id: XM_054357215   ⟹   XP_054213190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,296,728 (+)NCBI
RefSeq Acc Id: XM_054357216   ⟹   XP_054213191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,293,832 (+)NCBI
RefSeq Acc Id: XM_054357217   ⟹   XP_054213192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,293,832 (+)NCBI
RefSeq Acc Id: XM_054357218   ⟹   XP_054213193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,296,974 (+)NCBI
RefSeq Acc Id: XM_054357219   ⟹   XP_054213194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,296,728 (+)NCBI
RefSeq Acc Id: XR_007059984
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,638 - 151,141,984 (+)NCBI
RefSeq Acc Id: XR_008487527
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07152,287,725 - 152,315,061 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001036000 (Get FASTA)   NCBI Sequence Viewer  
  NP_001268229 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295233 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295234 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337031 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337032 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337033 (Get FASTA)   NCBI Sequence Viewer  
  NP_114152 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514082 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275822 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275823 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275824 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275825 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275826 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275827 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275828 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275829 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275830 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275831 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275832 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275833 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275834 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213181 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213182 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213183 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213184 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213185 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213186 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213187 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213188 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213189 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213190 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213191 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213192 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213193 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213194 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH44644 (Get FASTA)   NCBI Sequence Viewer  
  AAH48300 (Get FASTA)   NCBI Sequence Viewer  
  AAK48932 (Get FASTA)   NCBI Sequence Viewer  
  AAL04173 (Get FASTA)   NCBI Sequence Viewer  
  BAB55097 (Get FASTA)   NCBI Sequence Viewer  
  BAC04766 (Get FASTA)   NCBI Sequence Viewer  
  BAD93018 (Get FASTA)   NCBI Sequence Viewer  
  BAG51510 (Get FASTA)   NCBI Sequence Viewer  
  CAC09448 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43753 (Get FASTA)   NCBI Sequence Viewer  
  EAL24502 (Get FASTA)   NCBI Sequence Viewer  
  EAW54024 (Get FASTA)   NCBI Sequence Viewer  
  EAW54025 (Get FASTA)   NCBI Sequence Viewer  
  EAW54026 (Get FASTA)   NCBI Sequence Viewer  
  EAW54027 (Get FASTA)   NCBI Sequence Viewer  
  EAW54028 (Get FASTA)   NCBI Sequence Viewer  
  EAW54029 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000335589
  ENSP00000335589.3
  ENSP00000380413
  ENSP00000380413.2
  ENSP00000417151.1
  ENSP00000417910.1
  ENSP00000418016
  ENSP00000418016.1
  ENSP00000418125
  ENSP00000418125.1
  ENSP00000418159.1
  ENSP00000418921
  ENSP00000418921.1
  ENSP00000419801.1
GenBank Protein Q96P47 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_114152   ⟸   NM_031946
- Peptide Label: isoform a
- UniProtKB: Q96RK3 (UniProtKB/Swiss-Prot),   Q59EN0 (UniProtKB/Swiss-Prot),   E9PAL8 (UniProtKB/Swiss-Prot),   B3KNZ8 (UniProtKB/Swiss-Prot),   Q96P47 (UniProtKB/Swiss-Prot),   A0A090N7Y0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001036000   ⟸   NM_001042535
- Peptide Label: isoform b
- UniProtKB: Q96P47 (UniProtKB/Swiss-Prot),   Q86ST5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001268229   ⟸   NM_001281300
- Peptide Label: isoform c
- UniProtKB: Q96P47 (UniProtKB/Swiss-Prot),   Q86XV5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514082   ⟸   XM_011515780
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001295233   ⟸   NM_001308304
- Peptide Label: isoform d
- UniProtKB: C9J975 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295234   ⟸   NM_001308305
- Peptide Label: isoform e
- UniProtKB: E7ESL9 (UniProtKB/TrEMBL),   Q86ST5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337033   ⟸   NM_001350104
- Peptide Label: isoform h
- Sequence:
RefSeq Acc Id: NP_001337032   ⟸   NM_001350103
- Peptide Label: isoform g
- UniProtKB: Q8N8Q2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337031   ⟸   NM_001350102
- Peptide Label: isoform f
- UniProtKB: Q96RK3 (UniProtKB/Swiss-Prot),   Q96P47 (UniProtKB/Swiss-Prot),   Q59EN0 (UniProtKB/Swiss-Prot),   E9PAL8 (UniProtKB/Swiss-Prot),   B3KNZ8 (UniProtKB/Swiss-Prot),   A0A090N7Y0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000418016   ⟸   ENST00000463381
RefSeq Acc Id: ENSP00000480655   ⟸   ENST00000622464
RefSeq Acc Id: ENSP00000418125   ⟸   ENST00000479901
RefSeq Acc Id: ENSP00000335589   ⟸   ENST00000335367
RefSeq Acc Id: ENSP00000419801   ⟸   ENST00000467724
RefSeq Acc Id: ENSP00000418159   ⟸   ENST00000468796
RefSeq Acc Id: ENSP00000417151   ⟸   ENST00000469901
RefSeq Acc Id: ENSP00000418921   ⟸   ENST00000473312
RefSeq Acc Id: ENSP00000417910   ⟸   ENST00000461065
RefSeq Acc Id: ENSP00000380413   ⟸   ENST00000397238
RefSeq Acc Id: XP_047275826   ⟸   XM_047419870
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047275822   ⟸   XM_047419866
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275823   ⟸   XM_047419867
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047275824   ⟸   XM_047419868
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047275828   ⟸   XM_047419872
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047275827   ⟸   XM_047419871
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047275833   ⟸   XM_047419877
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047275829   ⟸   XM_047419873
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047275830   ⟸   XM_047419874
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047275834   ⟸   XM_047419878
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047275831   ⟸   XM_047419875
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047275832   ⟸   XM_047419876
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047275825   ⟸   XM_047419869
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054213184   ⟸   XM_054357209
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054213181   ⟸   XM_054357206
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213182   ⟸   XM_054357207
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213183   ⟸   XM_054357208
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054213188   ⟸   XM_054357213
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054213187   ⟸   XM_054357212
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054213193   ⟸   XM_054357218
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054213189   ⟸   XM_054357214
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054213190   ⟸   XM_054357215
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054213194   ⟸   XM_054357219
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054213191   ⟸   XM_054357216
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054213192   ⟸   XM_054357217
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054213186   ⟸   XM_054357211
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054213185   ⟸   XM_054357210
- Peptide Label: isoform X5
Protein Domains
Arf-GAP   PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96P47-F1-model_v2 AlphaFold Q96P47 1-875 view protein structure

Promoters
RGD ID:6805556
Promoter ID:HG_KWN:60284
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000335355,   ENST00000397232,   NM_001042535,   NM_031946,   UC010LPY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,413,776 - 150,415,137 (+)MPROMDB
RGD ID:6813140
Promoter ID:HG_ACW:75069
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:CENTG3.PAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,416,829 - 150,417,329 (+)MPROMDB
RGD ID:6805406
Promoter ID:HG_KWN:60285
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:UC003WJH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,442,086 - 150,443,432 (+)MPROMDB
RGD ID:6805216
Promoter ID:HG_KWN:60287
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003WJJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,462,636 - 150,463,136 (+)MPROMDB
RGD ID:7212355
Promoter ID:EPDNEW_H11924
Type:initiation region
Name:AGAP3_2
Description:ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11925  EPDNEW_H11926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,086,677 - 151,086,737EPDNEW
RGD ID:7212357
Promoter ID:EPDNEW_H11925
Type:initiation region
Name:AGAP3_1
Description:ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11924  EPDNEW_H11926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,114,666 - 151,114,726EPDNEW
RGD ID:7212359
Promoter ID:EPDNEW_H11926
Type:initiation region
Name:AGAP3_3
Description:ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11924  EPDNEW_H11925  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,134,405 - 151,134,465EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16923 AgrOrtholog
COSMIC AGAP3 COSMIC
Ensembl Genes ENSG00000133612 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000335367 ENTREZGENE
  ENST00000335367.7 UniProtKB/TrEMBL
  ENST00000397238 ENTREZGENE
  ENST00000397238.7 UniProtKB/Swiss-Prot
  ENST00000461065.1 UniProtKB/TrEMBL
  ENST00000463381 ENTREZGENE
  ENST00000463381.5 UniProtKB/Swiss-Prot
  ENST00000467724.5 UniProtKB/TrEMBL
  ENST00000468796.1 UniProtKB/TrEMBL
  ENST00000469901.5 UniProtKB/TrEMBL
  ENST00000473312 ENTREZGENE
  ENST00000473312.5 UniProtKB/Swiss-Prot
  ENST00000479901 ENTREZGENE
  ENST00000479901.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.220.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000133612 GTEx
HGNC ID HGNC:16923 ENTREZGENE
Human Proteome Map AGAP3 Human Proteome Map
InterPro Ankyrin_rpt 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
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:116988 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 116988 ENTREZGENE
OMIM 616813 OMIM
PANTHER ARF-GAP WITH GTPASE, ANK REPEAT AND PH DOMAIN-CONTAINING PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CENTAURIN-GAMMA-1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArfGap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26413 PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/TrEMBL
  REVINTRACTNG UniProtKB/Swiss-Prot, 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
  RAB UniProtKB/TrEMBL
  RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ArfGap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57863 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N7Y0 ENTREZGENE, UniProtKB/TrEMBL
  AGAP3_HUMAN UniProtKB/Swiss-Prot
  B3KNZ8 ENTREZGENE
  C9J975 ENTREZGENE, UniProtKB/TrEMBL
  E7ESL9 ENTREZGENE, UniProtKB/TrEMBL
  E9PAL8 ENTREZGENE
  H0Y873_HUMAN UniProtKB/TrEMBL
  H7C4F1_HUMAN UniProtKB/TrEMBL
  H7C4U6_HUMAN UniProtKB/TrEMBL
  H7C5G0_HUMAN UniProtKB/TrEMBL
  L8EB86_HUMAN UniProtKB/TrEMBL
  Q59EN0 ENTREZGENE
  Q86ST5 ENTREZGENE, UniProtKB/TrEMBL
  Q86XV5 ENTREZGENE, UniProtKB/TrEMBL
  Q8N8Q2 ENTREZGENE, UniProtKB/TrEMBL
  Q96P47 ENTREZGENE
  Q96RK3 ENTREZGENE
UniProt Secondary B3KNZ8 UniProtKB/Swiss-Prot
  E9PAL8 UniProtKB/Swiss-Prot
  Q59EN0 UniProtKB/Swiss-Prot
  Q96RK3 UniProtKB/Swiss-Prot