ADAP1 (ArfGAP with dual PH domains 1) - Rat Genome Database

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Gene: ADAP1 (ArfGAP with dual PH domains 1) Homo sapiens
Analyze
Symbol: ADAP1
Name: ArfGAP with dual PH domains 1
RGD ID: 733651
HGNC Page HGNC:16486
Description: Enables GTPase activator activity. Predicted to be involved in cell surface receptor signaling pathway. Located in cytosol; nucleus; and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: arf-GAP with dual PH domain-containing protein 1; CENTA1; centaurin, alpha 1; centaurin-alpha; centaurin-alpha-1; cnt-a1; GCS1L; p42IP4; putative MAPK-activating protein PM25
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
GRCh387897,900 - 955,407 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7897,900 - 955,407 (-)EnsemblGRCh38hg38GRCh38
GRCh377937,537 - 995,043 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367904,066 - 960,811 (-)NCBINCBI36Build 36hg18NCBI36
Build 347710,780 - 767,508NCBI
Celera7906,136 - 962,035 (-)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef7855,527 - 893,573 (-)NCBIHuRef
CHM1_17936,645 - 993,431 (-)NCBICHM1_1
T2T-CHM13v2.071,001,683 - 1,060,405 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27992,062 - 1,048,924 (-)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

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,TAS)
intracellular membrane-bounded organelle  (IBA,IEA)
nucleus  (IDA,IEA)
plasma membrane  (IBA,IDA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10333475   PMID:10448098   PMID:11278595   PMID:11869802   PMID:12018390   PMID:12062430   PMID:12477932   PMID:12499840   PMID:12565890   PMID:12761501   PMID:12893243   PMID:14625293  
PMID:14690521   PMID:14702039   PMID:15003508   PMID:15106847   PMID:15489334   PMID:15679100   PMID:15778454   PMID:15923660   PMID:16169070   PMID:16176273   PMID:16287813   PMID:16341594  
PMID:16341674   PMID:16344560   PMID:16805830   PMID:18029348   PMID:18298663   PMID:19423540   PMID:20406964   PMID:20438785   PMID:21057110   PMID:21801775   PMID:21873635   PMID:21900206  
PMID:21972134   PMID:24854535   PMID:25416956   PMID:29659066   PMID:31792062   PMID:32296183   PMID:32393512   PMID:33443153   PMID:35232997   PMID:35702822   PMID:35831314   PMID:37156999  


Genomics

Comparative Map Data
ADAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387897,900 - 955,407 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7897,900 - 955,407 (-)EnsemblGRCh38hg38GRCh38
GRCh377937,537 - 995,043 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367904,066 - 960,811 (-)NCBINCBI36Build 36hg18NCBI36
Build 347710,780 - 767,508NCBI
Celera7906,136 - 962,035 (-)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef7855,527 - 893,573 (-)NCBIHuRef
CHM1_17936,645 - 993,431 (-)NCBICHM1_1
T2T-CHM13v2.071,001,683 - 1,060,405 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27992,062 - 1,048,924 (-)NCBI
Adap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395139,257,631 - 139,311,516 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5139,257,631 - 139,311,377 (-)EnsemblGRCm39 Ensembl
GRCm385139,271,876 - 139,325,763 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5139,271,876 - 139,325,622 (-)EnsemblGRCm38mm10GRCm38
MGSCv375139,747,830 - 139,801,418 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365139,525,518 - 139,559,961 (-)NCBIMGSCv36mm8
Celera5136,325,945 - 136,379,615 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map578.27NCBI
Adap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81220,438,091 - 20,489,961 (+)NCBIGRCr8
mRatBN7.21215,323,913 - 15,376,110 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1215,324,209 - 15,380,831 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1216,134,353 - 16,186,232 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01216,758,093 - 16,809,976 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01215,784,243 - 15,836,094 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01217,416,327 - 17,468,212 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1217,416,327 - 17,468,212 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01219,402,559 - 19,454,794 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41215,825,017 - 15,877,643 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11215,855,021 - 15,906,562 (+)NCBI
Celera1217,078,350 - 17,130,259 (+)NCBICelera
Cytogenetic Map12q11NCBI
Adap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554608,635,463 - 8,674,455 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554608,635,463 - 8,674,455 (-)NCBIChiLan1.0ChiLan1.0
ADAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v265,841,176 - 5,899,642 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1754,165,865 - 54,224,306 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v071,054,499 - 1,112,240 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.171,269,235 - 1,316,351 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl71,269,235 - 1,326,102 (-)Ensemblpanpan1.1panPan2
ADAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1615,921,865 - 15,976,101 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl615,898,326 - 15,973,771 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha617,394,927 - 17,448,262 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0616,052,553 - 16,105,914 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl616,028,493 - 16,105,914 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1615,855,375 - 15,908,735 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0615,781,938 - 15,835,092 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0616,070,134 - 16,124,464 (+)NCBIUU_Cfam_GSD_1.0
Adap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344143,855,837 - 143,879,769 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367541,131,500 - 1,154,528 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367541,130,585 - 1,154,459 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3547,364 - 615,471 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13548,823 - 615,471 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23429,376 - 430,952 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.23695,020 - 722,372 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12820,617,948 - 20,677,848 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2820,617,995 - 20,680,628 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660901,013,133 - 1,073,527 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474026,481,054 - 26,518,469 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474026,481,036 - 26,518,315 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADAP1
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 copy number loss See cases [RCV000052253] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 7p22.3(chr7:54185-1441125)x1 copy number loss See cases [RCV000052254] Chr7:54185..1441125 [GRCh38]
Chr7:54185..1480761 [GRCh37]
Chr7:149268..1447287 [NCBI36]
Chr7:7p22.3
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1
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 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
NM_001284308.1(ADAP1):c.422-6665C>T single nucleotide variant Lung cancer [RCV000106699] Chr7:911837 [GRCh38]
Chr7:951474 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3(chr7:54185-1206119)x3 copy number gain See cases [RCV000134140] Chr7:54185..1206119 [GRCh38]
Chr7:54185..1245755 [GRCh37]
Chr7:149268..1212281 [NCBI36]
Chr7:7p22.3
uncertain significance
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 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 copy number loss See cases [RCV000136789] Chr7:54185..3324143 [GRCh38]
Chr7:54185..3363775 [GRCh37]
Chr7:149268..3330301 [NCBI36]
Chr7:7p22.3-22.2
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3(chr7:791215-1993065)x3 copy number gain See cases [RCV000136691] Chr7:791215..1993065 [GRCh38]
Chr7:830852..2032700 [GRCh37]
Chr7:797378..1999226 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1331046)x1 copy number loss See cases [RCV000137163] Chr7:54185..1331046 [GRCh38]
Chr7:54185..1370682 [GRCh37]
Chr7:149268..1337208 [NCBI36]
Chr7:7p22.3
pathogenic|uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3(chr7:689554-2031521)x3 copy number gain See cases [RCV000138319] Chr7:689554..2031521 [GRCh38]
Chr7:729191..2071156 [GRCh37]
Chr7:695717..2037682 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3(chr7:896276-940377)x3 copy number gain See cases [RCV000140261] Chr7:896276..940377 [GRCh38]
Chr7:935913..980013 [GRCh37]
Chr7:902439..946539 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:890905-945447)x3 copy number gain See cases [RCV000140262] Chr7:890905..945447 [GRCh38]
Chr7:930542..985083 [GRCh37]
Chr7:897068..951609 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:890905-990730)x3 copy number gain See cases [RCV000140279] Chr7:890905..990730 [GRCh38]
Chr7:930542..1030366 [GRCh37]
Chr7:897068..996892 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:866937-948487)x3 copy number gain See cases [RCV000140937] Chr7:866937..948487 [GRCh38]
Chr7:906574..988123 [GRCh37]
Chr7:873100..954649 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:896276-1022380)x3 copy number gain See cases [RCV000140941] Chr7:896276..1022380 [GRCh38]
Chr7:935913..1062016 [GRCh37]
Chr7:902439..1028542 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:890905-948487)x3 copy number gain See cases [RCV000140943] Chr7:890905..948487 [GRCh38]
Chr7:930542..988123 [GRCh37]
Chr7:897068..954649 [NCBI36]
Chr7:7p22.3
conflicting data from submitters
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 copy number loss See cases [RCV000142995] Chr7:54165..3258775 [GRCh38]
Chr7:54165..3298407 [GRCh37]
Chr7:149248..3264933 [NCBI36]
Chr7:7p22.3-22.2
pathogenic
GRCh38/hg38 7p22.3(chr7:45130-1298050)x1 copy number loss See cases [RCV000143341] Chr7:45130..1298050 [GRCh38]
Chr7:45130..1337686 [GRCh37]
Chr7:140213..1304212 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 copy number gain See cases [RCV000143175] Chr7:45130..3406236 [GRCh38]
Chr7:45130..3445868 [GRCh37]
Chr7:140213..3412394 [NCBI36]
Chr7:7p22.3-22.2
uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 copy number loss See cases [RCV000148193] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3
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
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p22.3(chr7:960405-1025934)x3 copy number gain See cases [RCV000446334] Chr7:960405..1025934 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:43360-2825753)x3 copy number gain See cases [RCV000447222] Chr7:43360..2825753 [GRCh37]
Chr7:7p22.3-22.2
likely pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
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 7p22.3-22.2(chr7:43360-3642604)x1 copy number loss See cases [RCV000511648] Chr7:43360..3642604 [GRCh37]
Chr7:7p22.3-22.2
pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2
pathogenic
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 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
NM_006869.4(ADAP1):c.77C>T (p.Ala26Val) single nucleotide variant Inborn genetic diseases [RCV003251451] Chr7:954401 [GRCh38]
Chr7:994037 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3(chr7:43360-2057743)x1 copy number loss See cases [RCV000512381] Chr7:43360..2057743 [GRCh37]
Chr7:7p22.3
likely pathogenic
GRCh37/hg19 7p22.3(chr7:967185-1261141)x3 copy number gain not provided [RCV000682817] Chr7:967185..1261141 [GRCh37]
Chr7:7p22.3
likely benign
GRCh37/hg19 7p22.3(chr7:989696-1540461)x3 copy number gain not provided [RCV000682854] Chr7:989696..1540461 [GRCh37]
Chr7:7p22.3
uncertain significance
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 7p22.3(chr7:993881-1142977)x3 copy number gain not provided [RCV000746312] Chr7:993881..1142977 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3(chr7:916660-1034717)x3 copy number gain not provided [RCV000746288] Chr7:916660..1034717 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:933420-1034717)x3 copy number gain not provided [RCV000746290] Chr7:933420..1034717 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:933420-1034903)x3 copy number gain not provided [RCV000746291] Chr7:933420..1034903 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:971124-994065)x1 copy number loss not provided [RCV000746292] Chr7:971124..994065 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:973131-994065)x1 copy number loss not provided [RCV000746293] Chr7:973131..994065 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:973235-993585)x1 copy number loss not provided [RCV000746294] Chr7:973235..993585 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:973443-994118)x1 copy number loss not provided [RCV000746295] Chr7:973443..994118 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:976725-982625)x1 copy number loss not provided [RCV000746296] Chr7:976725..982625 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:976725-1103697)x1 copy number loss not provided [RCV000746297] Chr7:976725..1103697 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:976872-982625)x1 copy number loss not provided [RCV000746298] Chr7:976872..982625 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:976872-994118)x1 copy number loss not provided [RCV000746299] Chr7:976872..994118 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:976925-982625)x1 copy number loss not provided [RCV000746300] Chr7:976925..982625 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:976925-994118)x1 copy number loss not provided [RCV000746301] Chr7:976925..994118 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:976925-1102241)x1 copy number loss not provided [RCV000746302] Chr7:976925..1102241 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:976925-1105426)x1 copy number loss not provided [RCV000746303] Chr7:976925..1105426 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:977027-994118)x1 copy number loss not provided [RCV000746304] Chr7:977027..994118 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:977239-1003047)x1 copy number loss not provided [RCV000746305] Chr7:977239..1003047 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:977307-994065)x1 copy number loss not provided [RCV000746306] Chr7:977307..994065 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:977307-1024581)x1 copy number loss not provided [RCV000746307] Chr7:977307..1024581 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:982200-994420)x1 copy number loss not provided [RCV000746308] Chr7:982200..994420 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:993173-994065)x1 copy number loss not provided [RCV000746309] Chr7:993173..994065 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:993173-1034717)x3 copy number gain not provided [RCV000746310] Chr7:993173..1034717 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:993173-1130584)x3 copy number gain not provided [RCV000746311] Chr7:993173..1130584 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:869147-1438686)x1 copy number loss See cases [RCV000790603] Chr7:869147..1438686 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3(chr7:44935-1750797)x1 copy number loss See cases [RCV001007408] Chr7:44935..1750797 [GRCh37]
Chr7:7p22.3
pathogenic
NM_006869.4(ADAP1):c.389-8C>G single nucleotide variant not provided [RCV000954931] Chr7:905180 [GRCh38]
Chr7:944817 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
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 7p22.3(chr7:43360-1648288)x1 copy number loss not provided [RCV001005888] Chr7:43360..1648288 [GRCh37]
Chr7:7p22.3
pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 copy number loss not provided [RCV000849273] Chr7:36616..4298168 [GRCh37]
Chr7:7p22.3-22.2
pathogenic
NM_006869.4(ADAP1):c.306G>C (p.Gln102His) single nucleotide variant Inborn genetic diseases [RCV003292735] Chr7:920050 [GRCh38]
Chr7:959687 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.921G>A (p.Thr307=) single nucleotide variant not provided [RCV000956447] Chr7:899208 [GRCh38]
Chr7:938845 [GRCh37]
Chr7:7p22.3
benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3(chr7:967185-1781553)x3 copy number gain not provided [RCV001259996] Chr7:967185..1781553 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3(chr7:989697-2138529)x3 copy number gain not provided [RCV001833076] Chr7:989697..2138529 [GRCh37]
Chr7:7p22.3
uncertain significance
NC_000007.13:g.(?_193200)_(1498962_?)del deletion not provided [RCV003119969] Chr7:193200..1498962 [GRCh37]
Chr7:7p22.3
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1
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 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
NM_006869.4(ADAP1):c.896T>C (p.Ile299Thr) single nucleotide variant Inborn genetic diseases [RCV003281995] Chr7:899233 [GRCh38]
Chr7:938870 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.991G>A (p.Asp331Asn) single nucleotide variant Inborn genetic diseases [RCV002860067] Chr7:899138 [GRCh38]
Chr7:938775 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.727G>A (p.Ala243Thr) single nucleotide variant Inborn genetic diseases [RCV002883307] Chr7:900538 [GRCh38]
Chr7:940175 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.415C>T (p.Arg139Cys) single nucleotide variant Inborn genetic diseases [RCV002925689] Chr7:905146 [GRCh38]
Chr7:944783 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.568G>A (p.Gly190Ser) single nucleotide variant Inborn genetic diseases [RCV002976877] Chr7:904206 [GRCh38]
Chr7:943843 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.491A>G (p.Asn164Ser) single nucleotide variant Inborn genetic diseases [RCV002854045] Chr7:905070 [GRCh38]
Chr7:944707 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.242C>T (p.Ala81Val) single nucleotide variant Inborn genetic diseases [RCV002964710] Chr7:926616 [GRCh38]
Chr7:966252 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.523A>G (p.Met175Val) single nucleotide variant Inborn genetic diseases [RCV003212705] Chr7:904251 [GRCh38]
Chr7:943888 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.377C>T (p.Pro126Leu) single nucleotide variant Inborn genetic diseases [RCV003195359] Chr7:919979 [GRCh38]
Chr7:959616 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.394C>T (p.Arg132Cys) single nucleotide variant Inborn genetic diseases [RCV003308733] Chr7:905167 [GRCh38]
Chr7:944804 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_006869.4(ADAP1):c.446G>A (p.Arg149Gln) single nucleotide variant Inborn genetic diseases [RCV003368802] Chr7:905115 [GRCh38]
Chr7:944752 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1
pathogenic
NM_006869.4(ADAP1):c.234C>T (p.Asn78=) single nucleotide variant not provided [RCV003423493] Chr7:926624 [GRCh38]
Chr7:966260 [GRCh37]
Chr7:7p22.3
likely benign
GRCh37/hg19 7p22.3(chr7:704573-941737)x3 copy number gain not provided [RCV003484668] Chr7:704573..941737 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3(chr7:967186-1152455)x1 copy number loss not provided [RCV003482944] Chr7:967186..1152455 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3(chr7:43360-2020306)x1 copy number loss not specified [RCV003986688] Chr7:43360..2020306 [GRCh37]
Chr7:7p22.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6206
Count of miRNA genes:977
Interacting mature miRNAs:1222
Transcripts:ENST00000265846, ENST00000435943, ENST00000437486, ENST00000446141, ENST00000449296, ENST00000453175, ENST00000453823, ENST00000454383, ENST00000463358, ENST00000477906, ENST00000478000, ENST00000481406, ENST00000488527, ENST00000495686, ENST00000495809, ENST00000539900
Prediction methods:Microtar, Miranda, Rnahybrid
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
D7S2474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377979,879 - 980,027UniSTSGRCh37
Build 367946,405 - 946,553RGDNCBI36
Celera7949,042 - 949,190RGD
HuRef7898,146 - 898,286UniSTS
CRA_TCAGchr7v271,034,516 - 1,034,664UniSTS
Marshfield Genetic Map73.13RGD
Genethon Genetic Map73.0UniSTS
deCODE Assembly Map73.62UniSTS
SHGC-151230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377979,608 - 979,832UniSTSGRCh37
Build 367946,134 - 946,358RGDNCBI36
Celera7948,771 - 948,995RGD
Cytogenetic Map7p22.3UniSTS
CRA_TCAGchr7v271,034,245 - 1,034,469UniSTS
TNG Radiation Hybrid Map7408.0UniSTS
TNG Radiation Hybrid Map844535.0UniSTS
SHGC-146699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377938,747 - 939,075UniSTSGRCh37
Build 367905,273 - 905,601RGDNCBI36
Celera7907,346 - 907,674RGD
Cytogenetic Map7p22.3UniSTS
HuRef7856,737 - 857,065UniSTS
CRA_TCAGchr7v27993,272 - 993,600UniSTS
TNG Radiation Hybrid Map7429.0UniSTS
HSC231_(nt989926)  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera7923,968 - 924,493RGD
Cytogenetic Map7p22.3UniSTS
HuRef7872,219 - 872,744UniSTS
CRA_TCAGchr7v271,009,567 - 1,010,092UniSTS
GDB:1318184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377942,252 - 942,478UniSTSGRCh37
Build 367908,778 - 909,004RGDNCBI36
Celera7911,007 - 911,233RGD
Cytogenetic Map7p22.3UniSTS
HuRef7860,398 - 860,624UniSTS
CRA_TCAGchr7v27996,769 - 996,995UniSTS
STS-R20738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377937,546 - 937,729UniSTSGRCh37
Build 367904,072 - 904,255RGDNCBI36
Celera7906,145 - 906,328RGD
Cytogenetic Map7p22.3UniSTS
HuRef7855,536 - 855,719UniSTS
CRA_TCAGchr7v27992,071 - 992,254UniSTS
GeneMap99-GB4 RH Map710.48UniSTS
GDB:3778207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377942,308 - 942,412UniSTSGRCh37
Build 367908,834 - 908,938RGDNCBI36
Celera7911,063 - 911,167RGD
Cytogenetic Map7p22.3UniSTS
HuRef7860,454 - 860,558UniSTS
CRA_TCAGchr7v27996,825 - 996,929UniSTS
D7S2474  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22.3UniSTS
Marshfield Genetic Map73.13UniSTS
Genethon Genetic Map73.0UniSTS
deCODE Assembly Map73.62UniSTS


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 1948 661 201 21 1107 25 631 844 3237 88 164 525 6 7 622
Low 479 2307 1450 535 737 373 2976 614 448 306 1258 1053 164 1196 1451 1
Below cutoff 7 15 72 66 84 67 743 728 24 22 25 27 1 712 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001284308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB097049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF082324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI910700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG716328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM837987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR975507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA872042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000265846   ⟹   ENSP00000265846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7897,900 - 954,680 (-)Ensembl
RefSeq Acc Id: ENST00000435943   ⟹   ENSP00000394973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7904,247 - 955,406 (-)Ensembl
RefSeq Acc Id: ENST00000437486   ⟹   ENSP00000404217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7899,465 - 920,889 (-)Ensembl
RefSeq Acc Id: ENST00000446141   ⟹   ENSP00000414436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7897,909 - 927,216 (-)Ensembl
RefSeq Acc Id: ENST00000449296   ⟹   ENSP00000407267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7897,901 - 927,216 (-)Ensembl
RefSeq Acc Id: ENST00000453175   ⟹   ENSP00000409129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7898,917 - 905,077 (-)Ensembl
RefSeq Acc Id: ENST00000453823   ⟹   ENSP00000416545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7900,533 - 927,514 (-)Ensembl
RefSeq Acc Id: ENST00000454383   ⟹   ENSP00000391315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7900,142 - 935,180 (-)Ensembl
RefSeq Acc Id: ENST00000463358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7904,152 - 945,816 (-)Ensembl
RefSeq Acc Id: ENST00000477906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7904,187 - 955,350 (-)Ensembl
RefSeq Acc Id: ENST00000478000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7897,910 - 905,616 (-)Ensembl
RefSeq Acc Id: ENST00000481406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7903,957 - 905,138 (-)Ensembl
RefSeq Acc Id: ENST00000488527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7904,247 - 923,338 (-)Ensembl
RefSeq Acc Id: ENST00000495686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7919,968 - 927,055 (-)Ensembl
RefSeq Acc Id: ENST00000495809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7897,945 - 901,399 (-)Ensembl
RefSeq Acc Id: ENST00000539900   ⟹   ENSP00000442682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7897,901 - 955,407 (-)Ensembl
RefSeq Acc Id: ENST00000611167   ⟹   ENSP00000481154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7897,901 - 945,816 (-)Ensembl
RefSeq Acc Id: ENST00000617043   ⟹   ENSP00000478011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7897,901 - 920,889 (-)Ensembl
RefSeq Acc Id: ENST00000649206   ⟹   ENSP00000497220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7897,903 - 954,697 (-)Ensembl
RefSeq Acc Id: NM_001284308   ⟹   NP_001271237
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387897,900 - 955,407 (-)NCBI
HuRef7855,527 - 911,976 (-)NCBI
CHM1_17936,645 - 994,185 (-)NCBI
T2T-CHM13v2.071,001,683 - 1,060,405 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001284309   ⟹   NP_001271238
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387897,900 - 945,816 (-)NCBI
HuRef7855,527 - 911,976 (-)NCBI
CHM1_17936,645 - 984,594 (-)NCBI
T2T-CHM13v2.071,001,683 - 1,050,821 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001284310   ⟹   NP_001271239
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387897,900 - 927,496 (-)NCBI
HuRef7855,527 - 911,976 (-)NCBI
CHM1_17936,645 - 966,346 (-)NCBI
T2T-CHM13v2.071,001,683 - 1,032,573 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001284311   ⟹   NP_001271240
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387897,900 - 920,877 (-)NCBI
HuRef7855,527 - 911,976 (-)NCBI
CHM1_17936,645 - 960,122 (-)NCBI
T2T-CHM13v2.071,001,683 - 1,025,815 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006869   ⟹   NP_006860
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387897,900 - 954,680 (-)NCBI
GRCh377937,537 - 995,208 (-)NCBI
Build 367904,066 - 960,811 (-)NCBI Archive
HuRef7855,527 - 911,976 (-)NCBI
CHM1_17936,645 - 993,461 (-)NCBI
T2T-CHM13v2.071,001,683 - 1,059,678 (-)NCBI
CRA_TCAGchr7v27992,062 - 1,048,924 (-)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001271237 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271238 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271239 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271240 (Get FASTA)   NCBI Sequence Viewer  
  NP_006860 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD11414 (Get FASTA)   NCBI Sequence Viewer  
  AAH33747 (Get FASTA)   NCBI Sequence Viewer  
  BAC77402 (Get FASTA)   NCBI Sequence Viewer  
  BAF83206 (Get FASTA)   NCBI Sequence Viewer  
  BAG52556 (Get FASTA)   NCBI Sequence Viewer  
  BAG54118 (Get FASTA)   NCBI Sequence Viewer  
  BAG62332 (Get FASTA)   NCBI Sequence Viewer  
  BAG62509 (Get FASTA)   NCBI Sequence Viewer  
  BAG62618 (Get FASTA)   NCBI Sequence Viewer  
  CAA07024 (Get FASTA)   NCBI Sequence Viewer  
  EAL23709 (Get FASTA)   NCBI Sequence Viewer  
  EAW87182 (Get FASTA)   NCBI Sequence Viewer  
  EAW87183 (Get FASTA)   NCBI Sequence Viewer  
  EAW87184 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265846
  ENSP00000265846.5
  ENSP00000391315.1
  ENSP00000394973.1
  ENSP00000404217.1
  ENSP00000407267
  ENSP00000407267.2
  ENSP00000409129.2
  ENSP00000414436.1
  ENSP00000416545.1
  ENSP00000442682
  ENSP00000442682.1
  ENSP00000478011
  ENSP00000478011.1
  ENSP00000481154
  ENSP00000481154.1
  ENSP00000497220.1
GenBank Protein O75689 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006860   ⟸   NM_006869
- Peptide Label: isoform 1
- UniProtKB: O75689 (UniProtKB/Swiss-Prot),   F6XZ68 (UniProtKB/Swiss-Prot),   B4DVA6 (UniProtKB/Swiss-Prot),   B3KRZ4 (UniProtKB/Swiss-Prot),   A4D2Q2 (UniProtKB/Swiss-Prot),   H7C2Q4 (UniProtKB/Swiss-Prot),   A0A3B3ISA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271237   ⟸   NM_001284308
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001271238   ⟸   NM_001284309
- Peptide Label: isoform 3
- UniProtKB: B4DUZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271239   ⟸   NM_001284310
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001271240   ⟸   NM_001284311
- Peptide Label: isoform 4
- UniProtKB: A0A087WTN6 (UniProtKB/TrEMBL),   B4DUZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497220   ⟸   ENST00000649206
RefSeq Acc Id: ENSP00000416545   ⟸   ENST00000453823
RefSeq Acc Id: ENSP00000409129   ⟸   ENST00000453175
RefSeq Acc Id: ENSP00000481154   ⟸   ENST00000611167
RefSeq Acc Id: ENSP00000391315   ⟸   ENST00000454383
RefSeq Acc Id: ENSP00000478011   ⟸   ENST00000617043
RefSeq Acc Id: ENSP00000414436   ⟸   ENST00000446141
RefSeq Acc Id: ENSP00000442682   ⟸   ENST00000539900
RefSeq Acc Id: ENSP00000407267   ⟸   ENST00000449296
RefSeq Acc Id: ENSP00000394973   ⟸   ENST00000435943
RefSeq Acc Id: ENSP00000265846   ⟸   ENST00000265846
RefSeq Acc Id: ENSP00000404217   ⟸   ENST00000437486
Protein Domains
Arf-GAP   PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75689-F1-model_v2 AlphaFold O75689 1-374 view protein structure

Promoters
RGD ID:7209751
Promoter ID:EPDNEW_H10622
Type:multiple initiation site
Name:ADAP1_6
Description:ArfGAP with dual PH domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10623  EPDNEW_H10624  EPDNEW_H10625  EPDNEW_H10626  EPDNEW_H10627  EPDNEW_H10628  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387905,001 - 905,061EPDNEW
RGD ID:6805201
Promoter ID:HG_KWN:55933
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000322733
Position:
Human AssemblyChrPosition (strand)Source
Build 367907,799 - 908,299 (-)MPROMDB
RGD ID:7209755
Promoter ID:EPDNEW_H10623
Type:initiation region
Name:ADAP1_5
Description:ArfGAP with dual PH domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10622  EPDNEW_H10624  EPDNEW_H10625  EPDNEW_H10626  EPDNEW_H10627  EPDNEW_H10628  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387909,084 - 909,144EPDNEW
RGD ID:6805207
Promoter ID:HG_KWN:55934
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000322743
Position:
Human AssemblyChrPosition (strand)Source
Build 367910,246 - 911,192 (-)MPROMDB
RGD ID:6805206
Promoter ID:HG_KWN:55935
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000322742,   UC003SJM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 367911,006 - 911,506 (-)MPROMDB
RGD ID:7209757
Promoter ID:EPDNEW_H10624
Type:initiation region
Name:ADAP1_7
Description:ArfGAP with dual PH domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10622  EPDNEW_H10623  EPDNEW_H10625  EPDNEW_H10626  EPDNEW_H10627  EPDNEW_H10628  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387920,876 - 920,936EPDNEW
RGD ID:7209759
Promoter ID:EPDNEW_H10625
Type:initiation region
Name:ADAP1_4
Description:ArfGAP with dual PH domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10622  EPDNEW_H10623  EPDNEW_H10624  EPDNEW_H10626  EPDNEW_H10627  EPDNEW_H10628  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387923,347 - 923,407EPDNEW
RGD ID:6805205
Promoter ID:HG_KWN:55936
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000322741
Position:
Human AssemblyChrPosition (strand)Source
Build 367926,679 - 927,179 (-)MPROMDB
RGD ID:6805204
Promoter ID:HG_KWN:55937
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000322740
Position:
Human AssemblyChrPosition (strand)Source
Build 367929,409 - 929,909 (-)MPROMDB
RGD ID:6805203
Promoter ID:HG_KWN:55938
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000322738,   OTTHUMT00000322739,   UC003SJN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 367933,311 - 933,811 (-)MPROMDB
RGD ID:7209761
Promoter ID:EPDNEW_H10626
Type:initiation region
Name:ADAP1_3
Description:ArfGAP with dual PH domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10622  EPDNEW_H10623  EPDNEW_H10624  EPDNEW_H10625  EPDNEW_H10627  EPDNEW_H10628  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387945,816 - 945,876EPDNEW
RGD ID:6805202
Promoter ID:HG_KWN:55940
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000322736
Position:
Human AssemblyChrPosition (strand)Source
Build 367951,974 - 952,474 (-)MPROMDB
RGD ID:7209763
Promoter ID:EPDNEW_H10627
Type:initiation region
Name:ADAP1_1
Description:ArfGAP with dual PH domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10622  EPDNEW_H10623  EPDNEW_H10624  EPDNEW_H10625  EPDNEW_H10626  EPDNEW_H10628  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387954,680 - 954,740EPDNEW
RGD ID:6805200
Promoter ID:HG_KWN:55941
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000059701
Position:
Human AssemblyChrPosition (strand)Source
Build 367960,579 - 961,079 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16486 AgrOrtholog
COSMIC ADAP1 COSMIC
Ensembl Genes ENSG00000105963 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265846 ENTREZGENE
  ENST00000265846.10 UniProtKB/Swiss-Prot
  ENST00000435943.1 UniProtKB/TrEMBL
  ENST00000437486.5 UniProtKB/TrEMBL
  ENST00000446141.5 UniProtKB/TrEMBL
  ENST00000449296 ENTREZGENE
  ENST00000449296.6 UniProtKB/Swiss-Prot
  ENST00000453175.6 UniProtKB/TrEMBL
  ENST00000453823.5 UniProtKB/TrEMBL
  ENST00000454383.5 UniProtKB/TrEMBL
  ENST00000539900 ENTREZGENE
  ENST00000539900.5 UniProtKB/Swiss-Prot
  ENST00000611167 ENTREZGENE
  ENST00000611167.4 UniProtKB/Swiss-Prot
  ENST00000617043 ENTREZGENE
  ENST00000617043.4 UniProtKB/TrEMBL
  ENST00000649206.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.220.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105963 GTEx
HGNC ID HGNC:16486 ENTREZGENE
Human Proteome Map ADAP1 Human Proteome Map
InterPro ARFGAP/RecO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArfGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArfGAP_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH1_ADAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH2_ADAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11033 UniProtKB/Swiss-Prot
NCBI Gene 11033 ENTREZGENE
OMIM 608114 OMIM
PANTHER ARF-GAP WITH DUAL PH DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARF-GAP WITH DUAL PH DOMAIN-CONTAINING PROTEIN 1-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ArfGap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26404 PharmGKB
PRINTS REVINTRACTNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ARFGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ArfGap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57863 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTN6 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ISA7 ENTREZGENE, UniProtKB/TrEMBL
  A4D2Q2 ENTREZGENE
  A8K3A2_HUMAN UniProtKB/TrEMBL
  ADAP1_HUMAN UniProtKB/Swiss-Prot
  B3KRZ4 ENTREZGENE
  B4DUZ7 ENTREZGENE, UniProtKB/TrEMBL
  B4DVA6 ENTREZGENE
  C9JN36_HUMAN UniProtKB/TrEMBL
  F6XZ68 ENTREZGENE
  H0Y7Q1_HUMAN UniProtKB/TrEMBL
  H7BZT6_HUMAN UniProtKB/TrEMBL
  H7C264_HUMAN UniProtKB/TrEMBL
  H7C2Q4 ENTREZGENE
  H7C324_HUMAN UniProtKB/TrEMBL
  H7C4B3_HUMAN UniProtKB/TrEMBL
  O75689 ENTREZGENE
UniProt Secondary A4D2Q2 UniProtKB/Swiss-Prot
  B3KRZ4 UniProtKB/Swiss-Prot
  B4DVA6 UniProtKB/Swiss-Prot
  F6XZ68 UniProtKB/Swiss-Prot
  H7C2Q4 UniProtKB/Swiss-Prot