GEM (GTP binding protein overexpressed in skeletal muscle) - Rat Genome Database

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Gene: GEM (GTP binding protein overexpressed in skeletal muscle) Homo sapiens
Analyze
Symbol: GEM
Name: GTP binding protein overexpressed in skeletal muscle
RGD ID: 1316557
HGNC Page HGNC
Description: Exhibits GTPase activity; magnesium ion binding activity; and purine ribonucleoside binding activity. Involved in chromosome organization; metaphase plate congression; and mitotic cell cycle. Localizes to cytoplasmic side of plasma membrane; midbody; and spindle.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GTP-binding mitogen-induced T-cell protein; GTP-binding protein GEM; GTP-binding protein overexpressed in skeletal muscle; kinase-inducible Ras-like protein; KIR; MGC26294; RAS-like protein KIR
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 Ensembl894,249,253 - 94,262,350 (-)EnsemblGRCh38hg38GRCh38
GRCh38894,249,249 - 94,262,345 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,261,481 - 95,274,547 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36895,330,657 - 95,343,733 (-)NCBINCBI36hg18NCBI36
Build 34895,330,662 - 95,343,733NCBI
Celera891,447,594 - 91,460,660 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,470,565 - 90,483,631 (-)NCBIHuRef
CHM1_1895,301,787 - 95,314,853 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
15-acetyldeoxynivalenol  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
acetaldehyde  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
albendazole  (EXP)
aldehydo-D-glucose  (ISO)
amiodarone  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromobenzene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (EXP,ISO)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cocaine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
crotonaldehyde  (EXP)
CU-O LINKAGE  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
doxycycline  (ISO)
endosulfan  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
glucose  (ISO)
Heliotrine  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
irinotecan  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nicotine  (ISO)
O-methyleugenol  (EXP)
ozone  (ISO)
paracetamol  (EXP)
pentanal  (EXP)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
potassium chromate  (EXP)
progesterone  (EXP,ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
senecionine  (EXP)
Senkirkine  (EXP)
silicon dioxide  (EXP,ISO)
sirolimus  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
Soman  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
torcetrapib  (EXP)
tributylstannane  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7809057   PMID:7912851   PMID:8810259   PMID:8825643   PMID:9115241   PMID:11395774   PMID:11956230   PMID:12093360   PMID:12477932   PMID:14701738   PMID:15489334   PMID:16189514  
PMID:16242932   PMID:16344560   PMID:17052716   PMID:17107948   PMID:18624398   PMID:19060904   PMID:20233927   PMID:20679232   PMID:21873635   PMID:21988832   PMID:22589533   PMID:22964304  
PMID:24586148   PMID:24667918   PMID:25155751   PMID:25173885   PMID:25416956   PMID:26186194   PMID:30021884   PMID:30833792   PMID:30886144   PMID:31013288   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
GEM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl894,249,253 - 94,262,350 (-)EnsemblGRCh38hg38GRCh38
GRCh38894,249,249 - 94,262,345 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,261,481 - 95,274,547 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36895,330,657 - 95,343,733 (-)NCBINCBI36hg18NCBI36
Build 34895,330,662 - 95,343,733NCBI
Celera891,447,594 - 91,460,660 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,470,565 - 90,483,631 (-)NCBIHuRef
CHM1_1895,301,787 - 95,314,853 (-)NCBICHM1_1
Gem
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39411,702,379 - 11,714,993 (+)NCBIGRCm39mm39
GRCm39 Ensembl411,704,457 - 11,714,752 (+)Ensembl
GRCm38411,704,447 - 11,714,993 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl411,704,457 - 11,714,752 (+)EnsemblGRCm38mm10GRCm38
MGSCv37411,631,594 - 11,642,140 (+)NCBIGRCm37mm9NCBIm37
MGSCv36411,631,604 - 11,641,899 (+)NCBImm8
Celera411,515,538 - 11,526,084 (+)NCBICelera
Cytogenetic Map4A1NCBI
cM Map45.34NCBI
Gem
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2525,214,309 - 25,225,222 (+)NCBI
Rnor_6.0 Ensembl525,349,928 - 25,353,661 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0525,339,479 - 25,353,661 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0530,050,664 - 30,062,666 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4525,809,543 - 26,008,249 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1526,004,470 - 26,008,270 (+)NCBI
Celera524,546,414 - 24,557,484 (+)NCBICelera
Cytogenetic Map5q13NCBI
Gem
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541710,475,822 - 10,487,825 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541710,475,967 - 10,486,879 (-)NCBIChiLan1.0ChiLan1.0
GEM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1892,817,028 - 92,830,133 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl892,817,028 - 92,830,133 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0890,872,855 - 90,885,969 (-)NCBIMhudiblu_PPA_v0panPan3
GEM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12939,016,543 - 39,037,761 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2939,025,483 - 39,037,403 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2939,177,842 - 39,199,013 (-)NCBI
ROS_Cfam_1.02939,220,477 - 39,241,164 (-)NCBI
UMICH_Zoey_3.12939,234,088 - 39,255,249 (-)NCBI
UNSW_CanFamBas_1.02939,229,276 - 39,250,433 (-)NCBI
UU_Cfam_GSD_1.02939,670,894 - 39,692,020 (-)NCBI
Gem
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,516,800 - 40,530,076 (+)NCBI
SpeTri2.0NW_0049365447,262,629 - 7,275,860 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GEM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl442,249,479 - 42,471,937 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1442,458,591 - 42,471,941 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2445,876,630 - 45,889,986 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GEM
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1889,219,484 - 89,232,788 (-)NCBI
ChlSab1.1 Ensembl889,218,782 - 89,232,753 (-)Ensembl
Vero_WHO_p1.0NW_02366603951,615,735 - 51,629,058 (+)NCBI
Gem
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247631,654,369 - 1,666,538 (-)NCBI

Position Markers
G60265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,262,016 - 95,262,335UniSTSGRCh37
Build 36895,331,192 - 95,331,511RGDNCBI36
Celera891,448,129 - 91,448,448RGD
Cytogenetic Map8q13-q21UniSTS
HuRef890,471,100 - 90,471,419UniSTS
TNG Radiation Hybrid Map845658.0UniSTS
D8S1433E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,262,506 - 95,262,691UniSTSGRCh37
Build 36895,331,682 - 95,331,867RGDNCBI36
Celera891,448,619 - 91,448,804RGD
Cytogenetic Map8q13-q21UniSTS
HuRef890,471,590 - 90,471,775UniSTS
GEM_100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,261,454 - 95,262,239UniSTSGRCh37
Build 36895,330,630 - 95,331,415RGDNCBI36
Celera891,447,567 - 91,448,352RGD
HuRef890,470,538 - 90,471,323UniSTS
WI-21164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,261,612 - 95,261,768UniSTSGRCh37
Build 36895,330,788 - 95,330,944RGDNCBI36
Celera891,447,725 - 91,447,881RGD
Cytogenetic Map8q13-q21UniSTS
HuRef890,470,696 - 90,470,852UniSTS
GeneMap99-GB4 RH Map8434.36UniSTS
Whitehead-RH Map8565.8UniSTS
NCBI RH Map8940.2UniSTS
RH17992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,261,746 - 95,261,961UniSTSGRCh37
Build 36895,330,922 - 95,331,137RGDNCBI36
Celera891,447,859 - 91,448,074RGD
Cytogenetic Map8q13-q21UniSTS
HuRef890,470,830 - 90,471,045UniSTS
GeneMap99-GB4 RH Map8435.93UniSTS
NCBI RH Map8969.4UniSTS
D8S1607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,261,801 - 95,262,135UniSTSGRCh37
Build 36895,330,977 - 95,331,311RGDNCBI36
Celera891,447,914 - 91,448,248RGD
Cytogenetic Map8q13-q21UniSTS
HuRef890,470,885 - 90,471,219UniSTS
GeneMap99-GB4 RH Map8431.63UniSTS
Whitehead-RH Map8544.9UniSTS
Whitehead-YAC Contig Map8 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1107
Count of miRNA genes:621
Interacting mature miRNAs:696
Transcripts:ENST00000297596, ENST00000396194, ENST00000521817, ENST00000523433, ENST00000523660
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 4 9 1 1
Medium 2086 1904 1200 321 482 206 2819 1141 1379 294 869 1356 120 1 1154 1769 2
Low 347 457 516 294 727 250 1511 1027 2290 120 571 235 54 50 996 2 2
Below cutoff 2 582 9 8 654 8 25 24 65 5 18 18 23 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000297596   ⟹   ENSP00000297596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,249,253 - 94,262,319 (-)Ensembl
RefSeq Acc Id: ENST00000396194   ⟹   ENSP00000379497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,249,253 - 94,262,350 (-)Ensembl
RefSeq Acc Id: ENST00000521817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,260,003 - 94,262,319 (-)Ensembl
RefSeq Acc Id: ENST00000523433   ⟹   ENSP00000428258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,260,223 - 94,260,770 (-)Ensembl
RefSeq Acc Id: ENST00000523660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,259,816 - 94,262,345 (-)Ensembl
RefSeq Acc Id: NM_005261   ⟹   NP_005252
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,249,253 - 94,262,319 (-)NCBI
GRCh37895,261,481 - 95,274,547 (-)ENTREZGENE
Build 36895,330,657 - 95,343,733 (-)NCBI Archive
HuRef890,470,565 - 90,483,631 (-)ENTREZGENE
CHM1_1895,301,787 - 95,314,853 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181702   ⟹   NP_859053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,249,253 - 94,262,319 (-)NCBI
GRCh37895,261,481 - 95,274,547 (-)ENTREZGENE
Build 36895,330,657 - 95,343,733 (-)NCBI Archive
HuRef890,470,565 - 90,483,631 (-)ENTREZGENE
CHM1_1895,301,787 - 95,314,853 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013315   ⟹   XP_016868804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,249,249 - 94,262,345 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_859053   ⟸   NM_181702
- UniProtKB: P55040 (UniProtKB/Swiss-Prot),   A0A024R9F5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005252   ⟸   NM_005261
- UniProtKB: P55040 (UniProtKB/Swiss-Prot),   A0A024R9F5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868804   ⟸   XM_017013315
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000297596   ⟸   ENST00000297596
RefSeq Acc Id: ENSP00000428258   ⟸   ENST00000523433
RefSeq Acc Id: ENSP00000379497   ⟸   ENST00000396194

Promoters
RGD ID:7213777
Promoter ID:EPDNEW_H12633
Type:initiation region
Name:GEM_1
Description:GTP binding protein overexpressed in skeletal muscle
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,262,319 - 94,262,379EPDNEW
RGD ID:6806772
Promoter ID:HG_KWN:61718
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:UC003YGI.1,   UC003YGJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36895,343,386 - 95,343,886 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
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 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
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 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 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
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 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 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
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 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1
likely 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 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
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 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005261.4(GEM):c.183C>G (p.Asp61Glu) single nucleotide variant not provided [RCV000884716] Chr8:94260321 [GRCh38]
Chr8:95272549 [GRCh37]
Chr8:8q22.1
benign
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 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005261.4(GEM):c.112C>T (p.His38Tyr) single nucleotide variant not provided [RCV000911488] Chr8:94260392 [GRCh38]
Chr8:95272620 [GRCh37]
Chr8:8q22.1
benign
GRCh37/hg19 8q22.1(chr8:94810526-95397957)x4 copy number gain not provided [RCV001006121] Chr8:94810526..95397957 [GRCh37]
Chr8:8q22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4234 AgrOrtholog
COSMIC GEM COSMIC
Ensembl Genes ENSG00000164949 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297596 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379497 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428258 UniProtKB/TrEMBL
Ensembl Transcript ENST00000297596 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396194 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523433 UniProtKB/TrEMBL
GTEx ENSG00000164949 GTEx
HGNC ID HGNC:4234 ENTREZGENE
Human Proteome Map GEM Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase_Ras-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2669 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2669 ENTREZGENE
OMIM 600164 OMIM
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28645 PharmGKB
PIRSF GTP-binding_GEM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs small_GTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9F5 ENTREZGENE, UniProtKB/TrEMBL
  E5RJF9_HUMAN UniProtKB/TrEMBL
  GEM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RA31 UniProtKB/Swiss-Prot