ARHGAP39 (Rho GTPase activating protein 39) - Rat Genome Database

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Gene: ARHGAP39 (Rho GTPase activating protein 39) Homo sapiens
Analyze
Symbol: ARHGAP39
Name: Rho GTPase activating protein 39
RGD ID: 1606778
HGNC Page HGNC:29351
Description: Predicted to enable GTPase activator activity. Involved in postsynapse organization. Is active in glutamatergic synapse.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CrGAP; crossGAP homolog; KIAA1688; rho GTPase-activating protein 39; RhoGAP93B homolog; Vilse
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,529,179 - 144,700,362 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,529,179 - 144,685,846 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,754,563 - 145,911,231 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,725,371 - 145,809,699 (-)NCBINCBI36Build 36hg18NCBI36
Celera8141,930,235 - 142,014,662 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,868,048 - 140,952,786 (-)NCBIHuRef
CHM1_18145,792,842 - 145,877,172 (-)NCBICHM1_1
T2T-CHM13v2.08145,699,369 - 145,873,884 (-)NCBIT2T-CHM13v2.0
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,IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
glutamatergic synapse  (IDA,IMP)
nucleus  (IEA)
postsynapse  (ISO)

Molecular Function

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:11214970   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15755809   PMID:16344560   PMID:21873635   PMID:24656827   PMID:24665060   PMID:25201988   PMID:26186194   PMID:26496610  
PMID:26972000   PMID:27880917   PMID:28514442   PMID:28611215   PMID:29117863   PMID:29507755   PMID:29509190   PMID:30021884   PMID:31091453   PMID:31527615   PMID:31871319   PMID:32203420  
PMID:33961781   PMID:34079125   PMID:34315543   PMID:35337019   PMID:35384245   PMID:37059586   PMID:37189064  


Genomics

Comparative Map Data
ARHGAP39
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,529,179 - 144,700,362 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,529,179 - 144,685,846 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,754,563 - 145,911,231 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,725,371 - 145,809,699 (-)NCBINCBI36Build 36hg18NCBI36
Celera8141,930,235 - 142,014,662 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,868,048 - 140,952,786 (-)NCBIHuRef
CHM1_18145,792,842 - 145,877,172 (-)NCBICHM1_1
T2T-CHM13v2.08145,699,369 - 145,873,884 (-)NCBIT2T-CHM13v2.0
Arhgap39
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,608,183 - 76,702,366 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,608,185 - 76,702,370 (-)EnsemblGRCm39 Ensembl
GRCm381576,723,985 - 76,818,166 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,723,985 - 76,818,170 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,554,415 - 76,648,600 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,551,240 - 76,645,406 (-)NCBIMGSCv36mm8
Celera1578,217,595 - 78,313,095 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.28NCBI
Arhgap39
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,326,918 - 110,419,500 (-)NCBIGRCr8
mRatBN7.27108,446,280 - 108,538,875 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,446,282 - 108,538,831 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7110,188,071 - 110,280,857 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,411,646 - 112,504,442 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,372,384 - 112,465,862 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,788,716 - 117,880,329 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,788,716 - 117,880,289 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,776,694 - 117,869,381 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,776,991 - 114,866,861 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17114,811,218 - 114,812,726 (-)NCBI
Celera7104,795,774 - 104,888,020 (-)NCBICelera
Cytogenetic Map7q34NCBI
Arhgap39
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,153,755 - 3,212,357 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,153,755 - 3,213,298 (-)NCBIChiLan1.0ChiLan1.0
ARHGAP39
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27162,021,348 - 162,171,351 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,550,683 - 137,702,815 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08141,298,070 - 141,449,560 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18144,285,624 - 144,361,501 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,285,624 - 144,361,501 (-)Ensemblpanpan1.1panPan2
ARHGAP39
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,945,480 - 38,002,738 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,947,888 - 37,993,351 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,908,650 - 37,997,583 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,421,639 - 38,510,885 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11338,113,586 - 38,202,462 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,221,985 - 38,311,017 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,698,476 - 38,787,684 (-)NCBIUU_Cfam_GSD_1.0
Arhgap39
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303267,656 - 318,793 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364707,703,125 - 7,744,161 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364707,703,107 - 7,744,892 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGAP39
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4206,188 - 273,644 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14206,135 - 274,998 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24335,864 - 366,001 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGAP39
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,743,479 - 138,886,662 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,743,403 - 138,886,602 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666039963,786 - 1,111,432 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arhgap39
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473512,236,122 - 12,334,404 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473512,236,219 - 12,334,461 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARHGAP39
73 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
NM_025251.1(ARHGAP39):c.513-3696C>T single nucleotide variant Lung cancer [RCV000107237] Chr8:144559339 [GRCh38]
Chr8:145784723 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3		 benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3		 likely benign
GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3 copy number gain See cases [RCV000140675] Chr8:144468986..144535245 [GRCh38]
Chr8:145694369..145760629 [GRCh37]
Chr8:145665177..145731437 [NCBI36]
Chr8:8q24.3		 benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
NC_000008.11:g.144680127T>C single nucleotide variant Lung cancer [RCV000107238] Chr8:144680127 [GRCh38]
Chr8:145905512 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_025251.3(ARHGAP39):c.995T>C (p.Val332Ala) single nucleotide variant not specified [RCV004298503] Chr8:144548091 [GRCh38]
Chr8:145773475 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.3128G>C (p.Cys1043Ser) single nucleotide variant not specified [RCV004316094] Chr8:144530724 [GRCh38]
Chr8:145756108 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2380G>A (p.Glu794Lys) single nucleotide variant not specified [RCV004318441] Chr8:144545390 [GRCh38]
Chr8:145770774 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145778769-146025924)x3 copy number gain not provided [RCV000682955] Chr8:145778769..146025924 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145772939)x3 copy number gain not provided [RCV000748027] Chr8:145638753..145772939 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..145755918 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145763152)x3 copy number gain not provided [RCV000748026] Chr8:145638753..145763152 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145667662-145758635)x3 copy number gain not provided [RCV000748034] Chr8:145667662..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145667662-145758661)x3 copy number gain not provided [RCV000748035] Chr8:145667662..145758661 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145667662-145763152)x3 copy number gain not provided [RCV000748036] Chr8:145667662..145763152 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145667664-145755918)x3 copy number gain not provided [RCV000748037] Chr8:145667664..145755918 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145756503-145757249)x1 copy number loss not provided [RCV000748039] Chr8:145756503..145757249 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145756503-145757413)x0 copy number loss not provided [RCV000748040] Chr8:145756503..145757413 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145756503-145764544)x0 copy number loss not provided [RCV000748041] Chr8:145756503..145764544 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145756613-145757413)x0 copy number loss not provided [RCV000748042] Chr8:145756613..145757413 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145813457-145846570)x1 copy number loss not provided [RCV000748043] Chr8:145813457..145846570 [GRCh37]
Chr8:8q24.3		 benign
NM_025251.3(ARHGAP39):c.1205A>G (p.Glu402Gly) single nucleotide variant not specified [RCV004291271] Chr8:144547881 [GRCh38]
Chr8:145773265 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.251A>G (p.Asn84Ser) single nucleotide variant not specified [RCV004288433] Chr8:144581107 [GRCh38]
Chr8:145806491 [GRCh37]
Chr8:8q24.3		 likely benign
NM_025251.3(ARHGAP39):c.2454C>T (p.Thr818=) single nucleotide variant not provided [RCV000970196] Chr8:144545316 [GRCh38]
Chr8:145770700 [GRCh37]
Chr8:8q24.3		 benign
NM_025251.3(ARHGAP39):c.681C>G (p.Ala227=) single nucleotide variant not provided [RCV000970197] Chr8:144548405 [GRCh38]
Chr8:145773789 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145695493-145798535)x3 copy number gain not provided [RCV000847278] Chr8:145695493..145798535 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1 copy number loss not provided [RCV000846781] Chr8:145645435..145881333 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_025251.3(ARHGAP39):c.1409A>G (p.Glu470Gly) single nucleotide variant not specified [RCV004306918] Chr8:144547677 [GRCh38]
Chr8:145773061 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1187G>A (p.Arg396Gln) single nucleotide variant not specified [RCV004326576] Chr8:144547899 [GRCh38]
Chr8:145773283 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_145741748)_(145958266_?)del deletion Baller-Gerold syndrome [RCV003113418] Chr8:145741748..145958266 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_025251.3(ARHGAP39):c.1232G>T (p.Arg411Leu) single nucleotide variant not specified [RCV004299763] Chr8:144547854 [GRCh38]
Chr8:145773238 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.706G>A (p.Gly236Ser) single nucleotide variant not specified [RCV004194880] Chr8:144548380 [GRCh38]
Chr8:145773764 [GRCh37]
Chr8:8q24.3		 likely benign
NM_025251.3(ARHGAP39):c.2408G>T (p.Arg803Leu) single nucleotide variant not specified [RCV004151166] Chr8:144545362 [GRCh38]
Chr8:145770746 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1436A>G (p.Gln479Arg) single nucleotide variant not specified [RCV004136304] Chr8:144547650 [GRCh38]
Chr8:145773034 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1634G>A (p.Gly545Glu) single nucleotide variant not specified [RCV004164681] Chr8:144547452 [GRCh38]
Chr8:145772836 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.3043G>A (p.Glu1015Lys) single nucleotide variant not specified [RCV004124673] Chr8:144530809 [GRCh38]
Chr8:145756193 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.382A>G (p.Ser128Gly) single nucleotide variant not specified [RCV004125129] Chr8:144580976 [GRCh38]
Chr8:145806360 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.43G>C (p.Asp15His) single nucleotide variant not specified [RCV004216389] Chr8:144605572 [GRCh38]
Chr8:145830957 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1883C>G (p.Pro628Arg) single nucleotide variant not specified [RCV004238317] Chr8:144547203 [GRCh38]
Chr8:145772587 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1642G>A (p.Gly548Ser) single nucleotide variant not specified [RCV004240299] Chr8:144547444 [GRCh38]
Chr8:145772828 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2764G>A (p.Ala922Thr) single nucleotide variant not specified [RCV004095732] Chr8:144533250 [GRCh38]
Chr8:145758634 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.458C>T (p.Pro153Leu) single nucleotide variant not specified [RCV004233913] Chr8:144580900 [GRCh38]
Chr8:145806284 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1034C>T (p.Pro345Leu) single nucleotide variant not specified [RCV004192767] Chr8:144548052 [GRCh38]
Chr8:145773436 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.965C>A (p.Ala322Asp) single nucleotide variant not specified [RCV004211838] Chr8:144548121 [GRCh38]
Chr8:145773505 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.743G>C (p.Ser248Thr) single nucleotide variant not specified [RCV004202004] Chr8:144548343 [GRCh38]
Chr8:145773727 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1472C>G (p.Thr491Arg) single nucleotide variant not specified [RCV004105868] Chr8:144547614 [GRCh38]
Chr8:145772998 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.964G>A (p.Ala322Thr) single nucleotide variant not specified [RCV004211837] Chr8:144548122 [GRCh38]
Chr8:145773506 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1475G>A (p.Arg492His) single nucleotide variant not specified [RCV004230206] Chr8:144547611 [GRCh38]
Chr8:145772995 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1331A>G (p.Lys444Arg) single nucleotide variant not specified [RCV004133881] Chr8:144547755 [GRCh38]
Chr8:145773139 [GRCh37]
Chr8:8q24.3		 likely benign
NM_025251.3(ARHGAP39):c.1139A>G (p.Glu380Gly) single nucleotide variant not specified [RCV004116480] Chr8:144547947 [GRCh38]
Chr8:145773331 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.560G>A (p.Arg187Gln) single nucleotide variant not specified [RCV004182786] Chr8:144555596 [GRCh38]
Chr8:145780980 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2329G>A (p.Val777Met) single nucleotide variant not specified [RCV004231682] Chr8:144545441 [GRCh38]
Chr8:145770825 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.721C>G (p.Arg241Gly) single nucleotide variant not specified [RCV004130806] Chr8:144548365 [GRCh38]
Chr8:145773749 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1040G>A (p.Arg347Gln) single nucleotide variant not specified [RCV004231872] Chr8:144548046 [GRCh38]
Chr8:145773430 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.3179T>C (p.Val1060Ala) single nucleotide variant not specified [RCV004085313] Chr8:144530588 [GRCh38]
Chr8:145755972 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.3140G>A (p.Arg1047His) single nucleotide variant not specified [RCV004198715] Chr8:144530712 [GRCh38]
Chr8:145756096 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1579C>T (p.Pro527Ser) single nucleotide variant not specified [RCV004234523] Chr8:144547507 [GRCh38]
Chr8:145772891 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.875C>T (p.Pro292Leu) single nucleotide variant not specified [RCV004199008] Chr8:144548211 [GRCh38]
Chr8:145773595 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1534G>A (p.Gly512Ser) single nucleotide variant not specified [RCV004109178] Chr8:144547552 [GRCh38]
Chr8:145772936 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2099A>G (p.Lys700Arg) single nucleotide variant not specified [RCV004189617] Chr8:144545671 [GRCh38]
Chr8:145771055 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.25T>C (p.Cys9Arg) single nucleotide variant not specified [RCV004120625] Chr8:144605590 [GRCh38]
Chr8:145830975 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.639G>A (p.Met213Ile) single nucleotide variant not specified [RCV004118124] Chr8:144548447 [GRCh38]
Chr8:145773831 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2030G>A (p.Ser677Asn) single nucleotide variant not specified [RCV004194012] Chr8:144545740 [GRCh38]
Chr8:145771124 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2558C>G (p.Thr853Ser) single nucleotide variant not specified [RCV004094975] Chr8:144537777 [GRCh38]
Chr8:145763161 [GRCh37]
Chr8:8q24.3		 likely benign
NM_025251.3(ARHGAP39):c.1328T>C (p.Val443Ala) single nucleotide variant not specified [RCV004076899] Chr8:144547758 [GRCh38]
Chr8:145773142 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.359C>T (p.Ala120Val) single nucleotide variant not specified [RCV004310203] Chr8:144580999 [GRCh38]
Chr8:145806383 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.914G>A (p.Arg305His) single nucleotide variant not specified [RCV004262835] Chr8:144548172 [GRCh38]
Chr8:145773556 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.122G>A (p.Arg41His) single nucleotide variant not specified [RCV004252616] Chr8:144581236 [GRCh38]
Chr8:145806620 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1985A>G (p.Gln662Arg) single nucleotide variant not specified [RCV004272744] Chr8:144545785 [GRCh38]
Chr8:145771169 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1382C>T (p.Pro461Leu) single nucleotide variant not specified [RCV004249801] Chr8:144547704 [GRCh38]
Chr8:145773088 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.395G>T (p.Arg132Leu) single nucleotide variant not specified [RCV004282660] Chr8:144580963 [GRCh38]
Chr8:145806347 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1990G>A (p.Glu664Lys) single nucleotide variant not specified [RCV004248969] Chr8:144545780 [GRCh38]
Chr8:145771164 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.541A>G (p.Lys181Glu) single nucleotide variant not specified [RCV004296646] Chr8:144555615 [GRCh38]
Chr8:145780999 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1774C>T (p.Pro592Ser) single nucleotide variant not specified [RCV004268008] Chr8:144547312 [GRCh38]
Chr8:145772696 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1130A>C (p.Lys377Thr) single nucleotide variant not specified [RCV004323968] Chr8:144547956 [GRCh38]
Chr8:145773340 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.57G>A (p.Ser19=) single nucleotide variant not provided [RCV003425587] Chr8:144605558 [GRCh38]
Chr8:145830943 [GRCh37]
Chr8:8q24.3		 likely benign
NM_025251.3(ARHGAP39):c.3116G>A (p.Arg1039His) single nucleotide variant not specified [RCV004360620] Chr8:144530736 [GRCh38]
Chr8:145756120 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2336G>C (p.Gly779Ala) single nucleotide variant not specified [RCV004339079] Chr8:144545434 [GRCh38]
Chr8:145770818 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2017G>A (p.Val673Ile) single nucleotide variant not specified [RCV004344560] Chr8:144545753 [GRCh38]
Chr8:145771137 [GRCh37]
Chr8:8q24.3		 likely benign
NM_025251.3(ARHGAP39):c.389T>G (p.Val130Gly) single nucleotide variant not specified [RCV004339369] Chr8:144580969 [GRCh38]
Chr8:145806353 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1613G>A (p.Arg538Gln) single nucleotide variant not specified [RCV004349740] Chr8:144547473 [GRCh38]
Chr8:145772857 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.3256G>A (p.Val1086Ile) single nucleotide variant not specified [RCV004352207] Chr8:144530511 [GRCh38]
Chr8:145755895 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1943A>G (p.Tyr648Cys) single nucleotide variant not specified [RCV004353036] Chr8:144547143 [GRCh38]
Chr8:145772527 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.928C>A (p.Pro310Thr) single nucleotide variant not specified [RCV004335214] Chr8:144548158 [GRCh38]
Chr8:145773542 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2648A>G (p.Tyr883Cys) single nucleotide variant not specified [RCV004350054] Chr8:144534169 [GRCh38]
Chr8:145759553 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.81G>C (p.Arg27=) single nucleotide variant not specified [RCV004334943] Chr8:144581277 [GRCh38]
Chr8:145806661 [GRCh37]
Chr8:8q24.3		 likely benign
NM_025251.3(ARHGAP39):c.1312G>T (p.Asp438Tyr) single nucleotide variant not specified [RCV004350053] Chr8:144547774 [GRCh38]
Chr8:145773158 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3 copy number gain not provided [RCV003484758] Chr8:145080420..146258478 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145738467-146076759)x3 copy number gain not specified [RCV003986735] Chr8:145738467..146076759 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1057C>T (p.Pro353Ser) single nucleotide variant not specified [RCV004422703] Chr8:144548029 [GRCh38]
Chr8:145773413 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1093C>A (p.Pro365Thr) single nucleotide variant not specified [RCV004422704] Chr8:144547993 [GRCh38]
Chr8:145773377 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1244G>A (p.Arg415Gln) single nucleotide variant not specified [RCV004422706] Chr8:144547842 [GRCh38]
Chr8:145773226 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1538C>T (p.Pro513Leu) single nucleotide variant not specified [RCV004422709] Chr8:144547548 [GRCh38]
Chr8:145772932 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.395G>A (p.Arg132His) single nucleotide variant not specified [RCV004422713] Chr8:144580963 [GRCh38]
Chr8:145806347 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.721C>T (p.Arg241Cys) single nucleotide variant not specified [RCV004422714] Chr8:144548365 [GRCh38]
Chr8:145773749 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2011A>G (p.Ser671Gly) single nucleotide variant not specified [RCV004422710] Chr8:144545759 [GRCh38]
Chr8:145771143 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.796T>A (p.Phe266Ile) single nucleotide variant not specified [RCV004422715] Chr8:144548290 [GRCh38]
Chr8:145773674 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1255G>C (p.Ala419Pro) single nucleotide variant not specified [RCV004422707] Chr8:144547831 [GRCh38]
Chr8:145773215 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.1361C>T (p.Pro454Leu) single nucleotide variant not specified [RCV004422708] Chr8:144547725 [GRCh38]
Chr8:145773109 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.2719C>T (p.Arg907Trp) single nucleotide variant not specified [RCV004422712] Chr8:144533295 [GRCh38]
Chr8:145758679 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.929C>G (p.Pro310Arg) single nucleotide variant not specified [RCV004422716] Chr8:144548157 [GRCh38]
Chr8:145773541 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_025251.3(ARHGAP39):c.11C>G (p.Thr4Arg) single nucleotide variant not specified [RCV004422705] Chr8:144605604 [GRCh38]
Chr8:145830989 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_025251.3(ARHGAP39):c.931C>G (p.Pro311Ala) single nucleotide variant not specified [RCV004422717] Chr8:144548155 [GRCh38]
Chr8:145773539 [GRCh37]
Chr8:8q24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2449
Count of miRNA genes:749
Interacting mature miRNAs:884
Transcripts:ENST00000276826, ENST00000377307, ENST00000528810, ENST00000540274
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 250 17 936 21 16 23 1149 56 2563 60 718 912 8 10 818
Low 2181 2118 758 573 663 413 2788 1627 1145 347 730 693 163 1193 1552 4
Below cutoff 1 818 29 28 1072 28 418 505 11 2 1 418

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF186192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA118202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF573657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276826   ⟹   ENSP00000276826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,529,179 - 144,605,816 (-)Ensembl
RefSeq Acc Id: ENST00000377307   ⟹   ENSP00000366522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,529,179 - 144,685,846 (-)Ensembl
RefSeq Acc Id: ENST00000528810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,537,758 - 144,545,664 (-)Ensembl
RefSeq Acc Id: NM_001308207   ⟹   NP_001295136
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,613,503 (-)NCBI
CHM1_18145,792,842 - 145,877,169 (-)NCBI
T2T-CHM13v2.08145,699,369 - 145,784,676 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308208   ⟹   NP_001295137
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,685,846 (-)NCBI
CHM1_18145,792,842 - 145,949,485 (-)NCBI
T2T-CHM13v2.08145,699,369 - 145,856,901 (-)NCBI
Sequence:
RefSeq Acc Id: NM_025251   ⟹   NP_079527
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,685,846 (-)NCBI
GRCh378145,754,563 - 145,838,891 (-)RGD
Build 368145,725,371 - 145,809,699 (-)NCBI Archive
Celera8141,930,235 - 142,014,662 (-)RGD
HuRef8140,868,048 - 140,952,786 (-)ENTREZGENE
CHM1_18145,792,842 - 145,869,362 (-)NCBI
T2T-CHM13v2.08145,699,369 - 145,856,901 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517308   ⟹   XP_011515610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,700,362 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517312   ⟹   XP_011515614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,578,080 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013870   ⟹   XP_016869359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,613,503 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054361291   ⟹   XP_054217266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,699,369 - 145,784,676 (-)NCBI
RefSeq Acc Id: XM_054361292   ⟹   XP_054217267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,699,369 - 145,873,884 (-)NCBI
RefSeq Acc Id: XM_054361293   ⟹   XP_054217268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,699,369 - 145,749,015 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_079527   ⟸   NM_025251
- Peptide Label: isoform 2
- UniProtKB: A0A2X0SSG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515610   ⟸   XM_011517308
- Peptide Label: isoform X1
- UniProtKB: A0A2X0SSG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515614   ⟸   XM_011517312
- Peptide Label: isoform X2
- UniProtKB: A0A2X0SSG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295137   ⟸   NM_001308208
- Peptide Label: isoform 1
- UniProtKB: B4E1I1 (UniProtKB/Swiss-Prot),   Q9C0H5 (UniProtKB/Swiss-Prot),   B4DK23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295136   ⟸   NM_001308207
- Peptide Label: isoform 1
- UniProtKB: B4E1I1 (UniProtKB/Swiss-Prot),   Q9C0H5 (UniProtKB/Swiss-Prot),   B4DK23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869359   ⟸   XM_017013870
- Peptide Label: isoform X1
- UniProtKB: A0A2X0SSG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000366522   ⟸   ENST00000377307
RefSeq Acc Id: ENSP00000276826   ⟸   ENST00000276826
RefSeq Acc Id: XP_054217267   ⟸   XM_054361292
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054217266   ⟸   XM_054361291
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054217268   ⟸   XM_054361293
- Peptide Label: isoform X2
Protein Domains
MyTH4   Rho-GAP   WW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0H5-F1-model_v2 AlphaFold Q9C0H5 1-1083 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29351 AgrOrtholog
COSMIC ARHGAP39 COSMIC
Ensembl Genes ENSG00000147799 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276826 ENTREZGENE
  ENST00000276826.5 UniProtKB/Swiss-Prot
  ENST00000377307 ENTREZGENE
  ENST00000377307.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.530 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147799 GTEx
HGNC ID HGNC:29351 ENTREZGENE
Human Proteome Map ARHGAP39 Human Proteome Map
InterPro MyTH4_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MyTH4_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80728 UniProtKB/Swiss-Prot
NCBI Gene 80728 ENTREZGENE
OMIM 615880 OMIM
PANTHER FI04035P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO GTPASE-ACTIVATING PROTEIN 39 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MyTH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165585391 PharmGKB
PROSITE MYTH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MyTH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00456 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51045 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0SSG1 ENTREZGENE, UniProtKB/TrEMBL
  B3KS00_HUMAN UniProtKB/TrEMBL
  B4DK23 ENTREZGENE, UniProtKB/TrEMBL
  B4E1I1 ENTREZGENE
  Q6PJQ0_HUMAN UniProtKB/TrEMBL
  Q9C0H5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4E1I1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ARHGAP39  Rho GTPase activating protein 39  KIAA1688  KIAA1688 protein  Symbol and/or name change 5135510 APPROVED