ARHGAP30 (Rho GTPase activating protein 30) - Rat Genome Database

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Gene: ARHGAP30 (Rho GTPase activating protein 30) Homo sapiens
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Symbol: ARHGAP30
Name: Rho GTPase activating protein 30
RGD ID: 1604190
HGNC Page HGNC:27414
Description: Predicted to enable GTPase activator activity. Predicted to be involved in small GTPase-mediated signal transduction. Located in intracellular membrane-bounded organelle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ00267; FLJ44128; rho GTPase-activating protein 30; rho-type GTPase-activating protein 30; RP11-544M22.6
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
GRCh381161,046,946 - 161,069,891 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,046,946 - 161,069,970 (-)EnsemblGRCh38hg38GRCh38
GRCh371161,016,736 - 161,039,681 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,283,356 - 159,306,384 (-)NCBINCBI36Build 36hg18NCBI36
Celera1134,083,996 - 134,106,943 (-)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,374,664 - 132,397,174 (-)NCBIHuRef
CHM1_11162,412,931 - 162,436,004 (-)NCBICHM1_1
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15144186   PMID:15489334   PMID:16344560   PMID:16710414   PMID:21565175   PMID:21873635   PMID:23128233   PMID:25156493   PMID:29507755   PMID:30021884   PMID:30196744  
PMID:32203420   PMID:32416689   PMID:32513696   PMID:34490691   PMID:37170915  


Genomics

Comparative Map Data
ARHGAP30
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,046,946 - 161,069,891 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,046,946 - 161,069,970 (-)EnsemblGRCh38hg38GRCh38
GRCh371161,016,736 - 161,039,681 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,283,356 - 159,306,384 (-)NCBINCBI36Build 36hg18NCBI36
Celera1134,083,996 - 134,106,943 (-)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,374,664 - 132,397,174 (-)NCBIHuRef
CHM1_11162,412,931 - 162,436,004 (-)NCBICHM1_1
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBIT2T-CHM13v2.0
Arhgap30
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391171,216,528 - 171,237,808 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1171,216,522 - 171,237,866 (+)EnsemblGRCm39 Ensembl
GRCm381171,388,960 - 171,410,240 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1171,388,954 - 171,410,298 (+)EnsemblGRCm38mm10GRCm38
MGSCv371173,319,091 - 173,340,371 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361173,225,687 - 173,246,915 (+)NCBIMGSCv36mm8
Celera1173,840,100 - 173,861,435 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map179.39NCBI
Arhgap30
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81386,354,448 - 86,376,552 (+)NCBIGRCr8
mRatBN7.21383,822,290 - 83,843,634 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1383,822,283 - 83,854,885 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1386,328,054 - 86,349,397 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01387,726,262 - 87,747,611 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01384,962,056 - 84,983,508 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01389,774,764 - 89,796,113 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1389,774,764 - 89,796,113 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01394,402,339 - 94,423,830 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41387,295,074 - 87,335,018 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1383,452,743 - 83,474,223 (+)NCBICelera
Cytogenetic Map13q24NCBI
Arhgap30
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546812,823,254 - 12,840,405 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546812,822,489 - 12,840,705 (-)NCBIChiLan1.0ChiLan1.0
ARHGAP30
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2188,782,113 - 88,804,970 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1188,472,444 - 88,495,287 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01136,459,485 - 136,482,384 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11140,372,824 - 140,395,323 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1140,372,824 - 140,395,323 (-)Ensemblpanpan1.1panPan2
ARHGAP30
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13821,395,102 - 21,412,047 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3821,395,373 - 21,412,047 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3821,469,030 - 21,485,960 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03821,512,820 - 21,529,763 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3821,513,079 - 21,528,997 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13821,400,917 - 21,417,843 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03821,814,839 - 21,831,760 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03822,224,163 - 22,241,096 (+)NCBIUU_Cfam_GSD_1.0
Arhgap30
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050587,152,594 - 7,171,119 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936903361,076 - 379,595 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGAP30
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl489,375,526 - 89,394,244 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1489,375,486 - 89,394,190 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2497,379,662 - 97,389,035 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGAP30
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1202,922,593 - 2,942,563 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl202,922,935 - 2,941,817 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660381,958,942 - 1,980,534 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arhgap30
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624794300,212 - 317,073 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624794299,877 - 317,859 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARHGAP30
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3 copy number gain See cases [RCV000051555] Chr1:160866658..161315114 [GRCh38]
Chr1:160836448..161284904 [GRCh37]
Chr1:159103072..159551528 [NCBI36]
Chr1:1q23.3		 uncertain significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2		 pathogenic
NM_001025598.1(ARHGAP30):c.2017G>A (p.Glu673Lys) single nucleotide variant Malignant melanoma [RCV000064268] Chr1:161049004 [GRCh38]
Chr1:161018794 [GRCh37]
Chr1:159285418 [NCBI36]
Chr1:1q23.3		 not provided
NM_001025598.2(ARHGAP30):c.1477G>A (p.Asp493Asn) single nucleotide variant Inborn genetic diseases [RCV002675211] Chr1:161049633 [GRCh38]
Chr1:161019423 [GRCh37]
Chr1:159286047 [NCBI36]
Chr1:1q23.3		 uncertain significance|not provided
NM_001025598.1(ARHGAP30):c.345+77A>G single nucleotide variant Lung cancer [RCV000089839] Chr1:161056311 [GRCh38]
Chr1:161026101 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001025598.2(ARHGAP30):c.707G>A (p.Arg236Gln) single nucleotide variant Inborn genetic diseases [RCV003277525] Chr1:161052755 [GRCh38]
Chr1:161022545 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.221G>A (p.Arg74Gln) single nucleotide variant Inborn genetic diseases [RCV003253707] Chr1:161056512 [GRCh38]
Chr1:161026302 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.94G>A (p.Glu32Lys) single nucleotide variant Inborn genetic diseases [RCV003272784] Chr1:161069531 [GRCh38]
Chr1:161039321 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2908C>T (p.Arg970Trp) single nucleotide variant Inborn genetic diseases [RCV003300262] Chr1:161048113 [GRCh38]
Chr1:161017903 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.886G>C (p.Gly296Arg) single nucleotide variant Inborn genetic diseases [RCV003242843] Chr1:161052494 [GRCh38]
Chr1:161022284 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
GRCh37/hg19 1q23.3(chr1:160779495-161116022)x3 copy number gain not provided [RCV000749204] Chr1:160779495..161116022 [GRCh37]
Chr1:1q23.3		 benign
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1		 pathogenic
NC_000001.10:g.(?_160786670)_(161332233_?)dup duplication Gastrointestinal stromal tumor [RCV000792787] Chr1:160816880..161362443 [GRCh38]
Chr1:160786670..161332233 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3 copy number gain not provided [RCV001005145] Chr1:160977795..161189147 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 copy number gain not provided [RCV000849025] Chr1:160744174..162583871 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2		 pathogenic
NM_001025598.2(ARHGAP30):c.709G>A (p.Ala237Thr) single nucleotide variant Inborn genetic diseases [RCV003275392] Chr1:161052753 [GRCh38]
Chr1:161022543 [GRCh37]
Chr1:1q23.3		 uncertain significance
NC_000001.11:g.(?_160816880)_(161362518_?)dup duplication Gastrointestinal stromal tumor [RCV001031279] Chr1:160786670..161332308 [GRCh37]
Chr1:1q23.3		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) copy number loss not specified [RCV002053658] Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1		 pathogenic
GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3 copy number gain not provided [RCV001829131] Chr1:160859558..161409185 [GRCh37]
Chr1:1q23.3		 likely pathogenic
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3		 uncertain significance|no classifications from unflagged records
NM_001025598.2(ARHGAP30):c.2437G>A (p.Asp813Asn) single nucleotide variant Inborn genetic diseases [RCV002682239] Chr1:161048584 [GRCh38]
Chr1:161018374 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.1219T>C (p.Cys407Arg) single nucleotide variant Inborn genetic diseases [RCV002773062] Chr1:161051515 [GRCh38]
Chr1:161021305 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2176G>A (p.Ala726Thr) single nucleotide variant Inborn genetic diseases [RCV002841670] Chr1:161048845 [GRCh38]
Chr1:161018635 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.37G>A (p.Ala13Thr) single nucleotide variant Inborn genetic diseases [RCV002779641] Chr1:161069588 [GRCh38]
Chr1:161039378 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2512C>T (p.Arg838Trp) single nucleotide variant Inborn genetic diseases [RCV002992923] Chr1:161048509 [GRCh38]
Chr1:161018299 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.1059C>G (p.Ser353Arg) single nucleotide variant Inborn genetic diseases [RCV002689288] Chr1:161051675 [GRCh38]
Chr1:161021465 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.3134G>A (p.Arg1045Gln) single nucleotide variant Inborn genetic diseases [RCV002684882] Chr1:161047887 [GRCh38]
Chr1:161017677 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2843A>G (p.Lys948Arg) single nucleotide variant Inborn genetic diseases [RCV002880151] Chr1:161048178 [GRCh38]
Chr1:161017968 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.683G>C (p.Gly228Ala) single nucleotide variant Inborn genetic diseases [RCV002905296] Chr1:161052779 [GRCh38]
Chr1:161022569 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3 copy number gain not provided [RCV002475740] Chr1:160778879..161190622 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.1052G>A (p.Arg351Gln) single nucleotide variant Inborn genetic diseases [RCV003000865] Chr1:161051682 [GRCh38]
Chr1:161021472 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.1334G>A (p.Arg445His) single nucleotide variant Inborn genetic diseases [RCV002757179] Chr1:161051400 [GRCh38]
Chr1:161021190 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2419T>C (p.Tyr807His) single nucleotide variant Inborn genetic diseases [RCV002694445] Chr1:161048602 [GRCh38]
Chr1:161018392 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.1676T>G (p.Val559Gly) single nucleotide variant Inborn genetic diseases [RCV002739312] Chr1:161049434 [GRCh38]
Chr1:161019224 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.3250C>T (p.Arg1084Cys) single nucleotide variant Inborn genetic diseases [RCV002951270] Chr1:161047771 [GRCh38]
Chr1:161017561 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.3217C>A (p.Pro1073Thr) single nucleotide variant Inborn genetic diseases [RCV002987019] Chr1:161047804 [GRCh38]
Chr1:161017594 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2711C>G (p.Pro904Arg) single nucleotide variant Inborn genetic diseases [RCV002670434] Chr1:161048310 [GRCh38]
Chr1:161018100 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.3175G>A (p.Gly1059Arg) single nucleotide variant Inborn genetic diseases [RCV002648749] Chr1:161047846 [GRCh38]
Chr1:161017636 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.622C>T (p.Leu208Phe) single nucleotide variant Inborn genetic diseases [RCV002648801] Chr1:161053300 [GRCh38]
Chr1:161023090 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2725T>C (p.Cys909Arg) single nucleotide variant Inborn genetic diseases [RCV002897824] Chr1:161048296 [GRCh38]
Chr1:161018086 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.3122C>T (p.Ala1041Val) single nucleotide variant Inborn genetic diseases [RCV002831030] Chr1:161047899 [GRCh38]
Chr1:161017689 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2207A>C (p.Glu736Ala) single nucleotide variant Inborn genetic diseases [RCV002724650] Chr1:161048814 [GRCh38]
Chr1:161018604 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.236G>A (p.Arg79His) single nucleotide variant Inborn genetic diseases [RCV002678772] Chr1:161056497 [GRCh38]
Chr1:161026287 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2492C>T (p.Ala831Val) single nucleotide variant Inborn genetic diseases [RCV003203723] Chr1:161048529 [GRCh38]
Chr1:161018319 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.1780G>A (p.Ala594Thr) single nucleotide variant Inborn genetic diseases [RCV003189317] Chr1:161049241 [GRCh38]
Chr1:161019031 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2804G>A (p.Arg935His) single nucleotide variant Inborn genetic diseases [RCV003356764] Chr1:161048217 [GRCh38]
Chr1:161018007 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.768A>G (p.Ile256Met) single nucleotide variant Inborn genetic diseases [RCV003356164] Chr1:161052694 [GRCh38]
Chr1:161022484 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2934G>C (p.Arg978Ser) single nucleotide variant Inborn genetic diseases [RCV003374583] Chr1:161048087 [GRCh38]
Chr1:161017877 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001025598.2(ARHGAP30):c.2768G>A (p.Arg923His) single nucleotide variant Inborn genetic diseases [RCV003367102] Chr1:161048253 [GRCh38]
Chr1:161018043 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3		 likely pathogenic
NM_001025598.2(ARHGAP30):c.1860G>A (p.Leu620=) single nucleotide variant not provided [RCV003409200] Chr1:161049161 [GRCh38]
Chr1:161018951 [GRCh37]
Chr1:1q23.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3169
Count of miRNA genes:919
Interacting mature miRNAs:1106
Transcripts:ENST00000368013, ENST00000368015, ENST00000368016, ENST00000368018, ENST00000461003, ENST00000471492, ENST00000490279
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
D1S273E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,018,015 - 161,018,257UniSTSGRCh37
GRCh371161,018,146 - 161,018,227UniSTSGRCh37
Build 361159,284,770 - 159,284,851RGDNCBI36
Celera1134,085,279 - 134,085,521UniSTS
Celera1134,085,410 - 134,085,491RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,375,947 - 132,376,189UniSTS
HuRef1132,376,078 - 132,376,159UniSTS
GeneMap99-G3 RH Map16144.0UniSTS
RH36021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,016,847 - 161,017,024UniSTSGRCh37
Build 361159,283,471 - 159,283,648RGDNCBI36
Celera1134,084,111 - 134,084,288RGD
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1q22-q23UniSTS
HuRef1132,374,779 - 132,374,956UniSTS
GeneMap99-GB4 RH Map1577.96UniSTS
STS-W72330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,016,772 - 161,017,015UniSTSGRCh37
Build 361159,283,396 - 159,283,639RGDNCBI36
Celera1134,084,036 - 134,084,279RGD
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1q22-q23UniSTS
HuRef1132,374,704 - 132,374,947UniSTS
GeneMap99-GB4 RH Map1588.15UniSTS
D1S273E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q23.3UniSTS
GeneMap99-G3 RH Map16144.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 422 1048 169 107 1889 42 1888 57 246 117 279 741 66 689 895 1
Low 1965 1901 1537 505 57 411 2190 1905 3223 269 1131 792 105 515 1737 5 2
Below cutoff 45 40 17 11 4 11 265 213 245 25 42 62 2 1 156

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001025598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA835836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK160366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL389935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA814767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF547967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000368013   ⟹   ENSP00000356992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,046,946 - 161,069,891 (-)Ensembl
RefSeq Acc Id: ENST00000368015   ⟹   ENSP00000356994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,046,949 - 161,069,970 (-)Ensembl
RefSeq Acc Id: ENST00000368016   ⟹   ENSP00000356995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,046,948 - 161,069,666 (-)Ensembl
RefSeq Acc Id: ENST00000368018   ⟹   ENSP00000356997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,053,375 - 161,069,675 (-)Ensembl
RefSeq Acc Id: ENST00000461003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,046,946 - 161,069,870 (-)Ensembl
RefSeq Acc Id: ENST00000471492   ⟹   ENSP00000431387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,054,402 - 161,069,915 (-)Ensembl
RefSeq Acc Id: ENST00000490279   ⟹   ENSP00000431291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,048,790 - 161,069,803 (-)Ensembl
RefSeq Acc Id: NM_001025598   ⟹   NP_001020769
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,046,946 - 161,069,891 (-)NCBI
GRCh371161,016,731 - 161,039,760 (-)NCBI
Build 361159,283,356 - 159,306,384 (-)NCBI Archive
Celera1134,083,996 - 134,106,943 (-)RGD
HuRef1132,374,664 - 132,397,174 (-)ENTREZGENE
CHM1_11162,412,931 - 162,436,004 (-)NCBI
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287600   ⟹   NP_001274529
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,046,946 - 161,069,891 (-)NCBI
HuRef1132,374,664 - 132,397,174 (-)NCBI
CHM1_11162,412,931 - 162,436,004 (-)NCBI
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287602   ⟹   NP_001274531
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,046,946 - 161,069,891 (-)NCBI
HuRef1132,374,664 - 132,397,174 (-)NCBI
CHM1_11162,412,931 - 162,436,004 (-)NCBI
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181720   ⟹   NP_859071
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,046,946 - 161,069,891 (-)NCBI
GRCh371161,016,731 - 161,039,760 (-)NCBI
Build 361159,283,356 - 159,306,384 (-)NCBI Archive
Celera1134,083,996 - 134,106,943 (-)RGD
HuRef1132,374,664 - 132,397,174 (-)ENTREZGENE
CHM1_11162,412,931 - 162,436,004 (-)NCBI
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245070   ⟹   XP_005245127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,046,946 - 161,069,891 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245073   ⟹   XP_005245130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,046,946 - 161,069,891 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509391   ⟹   XP_011507693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,046,946 - 161,069,891 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417140   ⟹   XP_047273096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,046,946 - 161,069,891 (-)NCBI
RefSeq Acc Id: XM_054335843   ⟹   XP_054191818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBI
RefSeq Acc Id: XM_054335844   ⟹   XP_054191819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBI
RefSeq Acc Id: XM_054335845   ⟹   XP_054191820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBI
RefSeq Acc Id: XM_054335846   ⟹   XP_054191821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,184,453 - 160,207,382 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001020769 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274529 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274531 (Get FASTA)   NCBI Sequence Viewer  
  NP_859071 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245127 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245130 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507693 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273096 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191818 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191819 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191820 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191821 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH43387 (Get FASTA)   NCBI Sequence Viewer  
  AAH53688 (Get FASTA)   NCBI Sequence Viewer  
  BAC86447 (Get FASTA)   NCBI Sequence Viewer  
  BAD18709 (Get FASTA)   NCBI Sequence Viewer  
  CAD97855 (Get FASTA)   NCBI Sequence Viewer  
  CCO13678 (Get FASTA)   NCBI Sequence Viewer  
  EAW52667 (Get FASTA)   NCBI Sequence Viewer  
  EAW52668 (Get FASTA)   NCBI Sequence Viewer  
  EAW52669 (Get FASTA)   NCBI Sequence Viewer  
  EAW52670 (Get FASTA)   NCBI Sequence Viewer  
  EAW52671 (Get FASTA)   NCBI Sequence Viewer  
  EAW52672 (Get FASTA)   NCBI Sequence Viewer  
  EAW52673 (Get FASTA)   NCBI Sequence Viewer  
  EAW52674 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000356992
  ENSP00000356992.3
  ENSP00000356994
  ENSP00000356994.1
  ENSP00000356995
  ENSP00000356995.3
  ENSP00000356997.2
  ENSP00000431291.1
  ENSP00000431387.1
GenBank Protein Q7Z6I6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_859071   ⟸   NM_181720
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MRJ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001020769   ⟸   NM_001025598
- Peptide Label: isoform 1
- UniProtKB: Q7Z3J8 (UniProtKB/Swiss-Prot),   Q6ZML6 (UniProtKB/Swiss-Prot),   Q5SY54 (UniProtKB/Swiss-Prot),   Q5SY53 (UniProtKB/Swiss-Prot),   Q5SY52 (UniProtKB/Swiss-Prot),   Q86XI7 (UniProtKB/Swiss-Prot),   Q7Z6I6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005245130   ⟸   XM_005245073
- Peptide Label: isoform X2
- UniProtKB: Q7Z6I6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005245127   ⟸   XM_005245070
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001274531   ⟸   NM_001287602
- Peptide Label: isoform 4
- UniProtKB: A0A0A0MRJ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274529   ⟸   NM_001287600
- Peptide Label: isoform 3
- UniProtKB: Q7Z6I6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011507693   ⟸   XM_011509391
- Peptide Label: isoform X2
- UniProtKB: Q7Z6I6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000431291   ⟸   ENST00000490279
RefSeq Acc Id: ENSP00000431387   ⟸   ENST00000471492
RefSeq Acc Id: ENSP00000356994   ⟸   ENST00000368015
RefSeq Acc Id: ENSP00000356995   ⟸   ENST00000368016
RefSeq Acc Id: ENSP00000356992   ⟸   ENST00000368013
RefSeq Acc Id: ENSP00000356997   ⟸   ENST00000368018
RefSeq Acc Id: XP_047273096   ⟸   XM_047417140
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054191820   ⟸   XM_054335845
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054191821   ⟸   XM_054335846
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054191819   ⟸   XM_054335844
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054191818   ⟸   XM_054335843
- Peptide Label: isoform X1
Protein Domains
Rho-GAP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z6I6-F1-model_v2 AlphaFold Q7Z6I6 1-1101 view protein structure

Promoters
RGD ID:6784623
Promoter ID:HG_KWN:5806
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000077090
Position:
Human AssemblyChrPosition (strand)Source
Build 361159,292,366 - 159,292,866 (-)MPROMDB
RGD ID:6785604
Promoter ID:HG_KWN:5807
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000368015,   ENST00000368017,   ENST00000368018,   NM_001025598,   NM_181720,   OTTHUMT00000077088,   UC001FXM.1,   UC001FXN.1,   UC009WTX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361159,306,084 - 159,306,584 (-)MPROMDB
RGD ID:6857834
Promoter ID:EPDNEW_H2082
Type:initiation region
Name:ARHGAP30_1
Description:Rho GTPase activating protein 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2083  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,069,817 - 161,069,877EPDNEW
RGD ID:6857836
Promoter ID:EPDNEW_H2083
Type:initiation region
Name:ARHGAP30_2
Description:Rho GTPase activating protein 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2082  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,069,932 - 161,069,992EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27414 AgrOrtholog
COSMIC ARHGAP30 COSMIC
Ensembl Genes ENSG00000186517 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000368013 ENTREZGENE
  ENST00000368013.8 UniProtKB/Swiss-Prot
  ENST00000368015 ENTREZGENE
  ENST00000368015.1 UniProtKB/TrEMBL
  ENST00000368016 ENTREZGENE
  ENST00000368016.7 UniProtKB/TrEMBL
  ENST00000368018.2 UniProtKB/TrEMBL
  ENST00000471492.2 UniProtKB/TrEMBL
  ENST00000490279.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186517 GTEx
HGNC ID HGNC:27414 ENTREZGENE
Human Proteome Map ARHGAP30 Human Proteome Map
InterPro Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:257106 UniProtKB/Swiss-Prot
NCBI Gene 257106 ENTREZGENE
OMIM 614264 OMIM
PANTHER CDC42 GTPASE-ACTIVATING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO GTPASE-ACTIVATING PROTEIN 30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672585 PharmGKB
PROSITE RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRJ8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MRJ9 ENTREZGENE, UniProtKB/TrEMBL
  E9PAN4_HUMAN UniProtKB/TrEMBL
  E9PLA4_HUMAN UniProtKB/TrEMBL
  E9PLT5_HUMAN UniProtKB/TrEMBL
  L0R4U0_HUMAN UniProtKB/TrEMBL
  Q5SY52 ENTREZGENE
  Q5SY53 ENTREZGENE
  Q5SY54 ENTREZGENE
  Q6ZML6 ENTREZGENE
  Q7Z3J8 ENTREZGENE
  Q7Z6I6 ENTREZGENE
  Q86XI7 ENTREZGENE
  RHG30_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5SY52 UniProtKB/Swiss-Prot
  Q5SY53 UniProtKB/Swiss-Prot
  Q5SY54 UniProtKB/Swiss-Prot
  Q6ZML6 UniProtKB/Swiss-Prot
  Q7Z3J8 UniProtKB/Swiss-Prot
  Q86XI7 UniProtKB/Swiss-Prot