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
Description: Predicted to have GTPase activator activity. Involved in postsynapse organization. Localizes to glutamatergic synapse; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,529,179 - 144,605,816 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,529,179 - 144,700,520 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,754,563 - 145,911,231 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,725,371 - 145,809,699 (-)NCBINCBI36hg18NCBI36
Celera8141,930,235 - 142,014,662 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,868,048 - 140,952,786 (-)NCBIHuRef
CHM1_18145,792,842 - 145,949,485 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

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:32203420  


Genomics

Comparative Map Data
ARHGAP39
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,529,179 - 144,605,816 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,529,179 - 144,700,520 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,754,563 - 145,911,231 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,725,371 - 145,809,699 (-)NCBINCBI36hg18NCBI36
Celera8141,930,235 - 142,014,662 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,868,048 - 140,952,786 (-)NCBIHuRef
CHM1_18145,792,842 - 145,949,485 (-)NCBICHM1_1
Arhgap39
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,608,183 - 76,702,366 (-)NCBIGRCm39mm39
GRCm39 Ensembl1576,608,185 - 76,702,370 (-)Ensembl
GRCm381576,723,985 - 76,818,166 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,723,985 - 76,818,170 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,554,415 - 76,648,600 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,551,240 - 76,645,406 (-)NCBImm8
Celera1578,217,595 - 78,313,095 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.28NCBI
Arhgap39
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,446,280 - 108,538,875 (-)NCBI
Rnor_6.0 Ensembl7117,788,716 - 117,880,289 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,788,716 - 117,880,329 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,776,694 - 117,869,381 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,776,991 - 114,866,861 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.18144,285,624 - 144,361,501 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,285,624 - 144,361,501 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,298,070 - 141,449,560 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.01338,421,639 - 38,510,885 (-)NCBI
UMICH_Zoey_3.11338,113,586 - 38,202,462 (-)NCBI
UNSW_CanFamBas_1.01338,221,985 - 38,311,017 (-)NCBI
UU_Cfam_GSD_1.01338,698,476 - 38,787,684 (-)NCBI
Arhgap39
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303267,656 - 318,793 (+)NCBI
SpeTri2.0NW_0049364707,703,107 - 7,744,892 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGAP39
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4207,242 - 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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,743,479 - 138,886,662 (-)NCBI
ChlSab1.1 Ensembl8138,743,403 - 138,886,602 (-)Ensembl
Arhgap39
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,236,219 - 12,334,461 (+)NCBI

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
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
  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
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,529,179 - 144,605,816 (-)Ensembl
RefSeq Acc Id: ENST00000377307   ⟹   ENSP00000366522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,529,179 - 144,605,699 (-)Ensembl
RefSeq Acc Id: ENST00000528810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
Sequence:
RefSeq Acc Id: NM_025251   ⟹   NP_079527
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,605,695 (-)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
Sequence:
RefSeq Acc Id: XM_011517308   ⟹   XP_011515610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,700,520 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517309   ⟹   XP_011515611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,685,812 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517312   ⟹   XP_011515614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,578,080 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013870   ⟹   XP_016869359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,529,179 - 144,614,383 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079527   ⟸   NM_025251
- Peptide Label: isoform 2
- UniProtKB: Q9C0H5 (UniProtKB/Swiss-Prot),   B3KS00 (UniProtKB/TrEMBL),   Q6PJQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515610   ⟸   XM_011517308
- Peptide Label: isoform X1
- UniProtKB: Q9C0H5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515611   ⟸   XM_011517309
- Peptide Label: isoform X1
- UniProtKB: Q9C0H5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515614   ⟸   XM_011517312
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001295137   ⟸   NM_001308208
- Peptide Label: isoform 1
- UniProtKB: Q9C0H5 (UniProtKB/Swiss-Prot),   B4DK23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295136   ⟸   NM_001308207
- Peptide Label: isoform 1
- UniProtKB: Q9C0H5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869359   ⟸   XM_017013870
- Peptide Label: isoform X1
- UniProtKB: Q9C0H5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000366522   ⟸   ENST00000377307
RefSeq Acc Id: ENSP00000276826   ⟸   ENST00000276826
Protein Domains
MyTH4   Rho-GAP   WW


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
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_025251.2(ARHGAP39):c.2454C>T (p.Thr818=) single nucleotide variant not provided [RCV000970196] Chr8:144545316 [GRCh38]
Chr8:145770700 [GRCh37]
Chr8:8q24.3
benign
NM_025251.2(ARHGAP39):c.681C>G (p.Ala227=) single nucleotide variant not provided [RCV000970197] Chr8:144548405 [GRCh38]
Chr8:145773789 [GRCh37]
Chr8:8q24.3
benign
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
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29351 AgrOrtholog
COSMIC ARHGAP39 COSMIC
Ensembl Genes ENSG00000147799 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000276826 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366522 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276826 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377307 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.530 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
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_HUMAN UniProtKB/TrEMBL
  B3KS00 ENTREZGENE, UniProtKB/TrEMBL
  B4DK23 ENTREZGENE, UniProtKB/TrEMBL
  Q6PJQ0 ENTREZGENE, 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