GAS1 (growth arrest specific 1) - Rat Genome Database

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Gene: GAS1 (growth arrest specific 1) Homo sapiens
Analyze
Symbol: GAS1
Name: growth arrest specific 1
RGD ID: 1345993
HGNC Page HGNC
Description: Involved in several processes, including cellular response to vascular endothelial growth factor stimulus; negative regulation of protein processing; and regulation of ER to Golgi vesicle-mediated transport. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GAS-1; growth arrest-specific 1; Growth arrest-specific gene-1; growth arrest-specific protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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 Ensembl986,944,362 - 86,947,506 (-)EnsemblGRCh38hg38GRCh38
GRCh38986,944,362 - 86,947,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37989,559,277 - 89,562,421 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36988,749,098 - 88,751,924 (-)NCBINCBI36hg18NCBI36
Build 34986,788,831 - 86,791,658NCBI
Celera960,128,056 - 60,130,876 (-)NCBI
Cytogenetic Map9q21.33NCBI
HuRef959,383,451 - 59,386,172 (-)NCBIHuRef
CHM1_1989,705,737 - 89,708,564 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
crotonaldehyde  (EXP)
cycloheximide  (EXP)
desferrioxamine B  (EXP)
diarsenic trioxide  (EXP)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dimercaprol  (ISO)
dioxygen  (ISO)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (EXP)
flusilazole  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gemcitabine  (EXP)
hemin  (EXP)
hydroquinone  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
lamivudine  (EXP)
lead(II) chloride  (EXP)
melphalan  (EXP)
mercury dibromide  (EXP)
methylseleninic acid  (EXP)
microcystin-LR  (ISO)
Monobutylphthalate  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
O-methyleugenol  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (EXP)
sodium fluoride  (ISO)
sulforaphane  (EXP)
tamoxifen  (EXP,ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP,ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brainstem morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal heart rate variability  (IAGP)
Abnormal hypothalamus physiology  (IAGP)
Abnormal midbrain morphology  (IAGP)
Abnormal morphology of the olfactory bulb  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of the autonomic nervous system  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of the septum pellucidum  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aplasia of the falx cerebri  (IAGP)
Aspiration pneumonia  (IAGP)
Asthma  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Bifid uvula  (IAGP)
Central apnea  (IAGP)
Central diabetes insipidus  (IAGP)
Central hypothyroidism  (IAGP)
Cerebral visual impairment  (IAGP)
Choanal atresia  (IAGP)
Chronic lung disease  (IAGP)
Cleft palate  (IAGP)
Coarctation of aorta  (IAGP)
Constipation  (IAGP)
Cyclopia  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Depressed nasal ridge  (IAGP)
Depression  (IAGP)
Diabetes insipidus  (IAGP)
Duodenal atresia  (IAGP)
Dysphagia  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Ethmoidal encephalocele  (IAGP)
Expressive language delay  (IAGP)
Failure to thrive  (IAGP)
Flexion contracture  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Hemangioma  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypotelorism  (IAGP)
Hypothyroidism  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Infantile axial hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Irritability  (IAGP)
Lethargy  (IAGP)
Limb dystonia  (IAGP)
Macrocephaly  (IAGP)
Maternal diabetes  (IAGP)
Median cleft lip  (IAGP)
Megalencephaly  (IAGP)
Microcephaly  (IAGP)
Midnasal stenosis  (IAGP)
Morphological abnormality of the gastrointestinal tract  (IAGP)
Narrow nasal bridge  (IAGP)
Neural tube defect  (IAGP)
Oromotor apraxia  (IAGP)
Panhypopituitarism  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Premature birth  (IAGP)
Proboscis  (IAGP)
Renal agenesis  (IAGP)
Rhombencephalosynapsis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single naris  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Solitary median maxillary central incisor  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Temperature instability  (IAGP)
Tented upper lip vermilion  (IAGP)
Tetralogy of Fallot  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:1505026   PMID:7956349   PMID:8127893   PMID:8307588   PMID:8889548   PMID:9466658   PMID:10996315   PMID:11356029   PMID:11572986   PMID:11846389   PMID:11906213   PMID:12477932  
PMID:15070677   PMID:15103018   PMID:16551639   PMID:17726382   PMID:18394855   PMID:18981472   PMID:19322201   PMID:19460624   PMID:19638344   PMID:20050020   PMID:20301702   PMID:20351267  
PMID:20583177   PMID:20628624   PMID:21111449   PMID:21357679   PMID:21842183   PMID:21873635   PMID:21901158   PMID:21971401   PMID:22311470   PMID:22846196   PMID:23254899   PMID:25429664  
PMID:25888394   PMID:26215053   PMID:26805687   PMID:27401611   PMID:27453337   PMID:27609421   PMID:28184927   PMID:29449217   PMID:29941984   PMID:30327548  


Genomics

Comparative Map Data
GAS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl986,944,362 - 86,947,506 (-)EnsemblGRCh38hg38GRCh38
GRCh38986,944,362 - 86,947,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37989,559,277 - 89,562,421 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36988,749,098 - 88,751,924 (-)NCBINCBI36hg18NCBI36
Build 34986,788,831 - 86,791,658NCBI
Celera960,128,056 - 60,130,876 (-)NCBI
Cytogenetic Map9q21.33NCBI
HuRef959,383,451 - 59,386,172 (-)NCBIHuRef
CHM1_1989,705,737 - 89,708,564 (-)NCBICHM1_1
Gas1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391360,322,219 - 60,325,349 (-)NCBIGRCm39mm39
GRCm39 Ensembl1360,322,219 - 60,325,179 (-)Ensembl
GRCm381360,174,405 - 60,177,535 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1360,174,405 - 60,177,365 (-)EnsemblGRCm38mm10GRCm38
MGSCv371360,275,766 - 60,278,896 (-)NCBIGRCm37mm9NCBIm37
MGSCv361360,184,028 - 60,186,988 (-)NCBImm8
Celera1361,235,218 - 61,238,431 (-)NCBICelera
Cytogenetic Map13B2NCBI
cM Map1331.92NCBI
Gas1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2174,482,014 - 4,485,155 (+)NCBImRatBN7.2
Rnor_6.0174,846,116 - 4,849,350 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl174,846,789 - 4,847,940 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0177,072,776 - 7,075,999 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera174,606,730 - 4,609,964 (+)NCBICelera
Cytogenetic Map17p14NCBI
Gas1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955432727,784 - 729,096 (+)NCBIChiLan1.0ChiLan1.0
GAS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1986,137,630 - 86,140,170 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl986,139,009 - 86,140,045 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0958,079,700 - 58,082,849 (-)NCBIMhudiblu_PPA_v0panPan3
GAS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1172,927,346 - 72,930,119 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl172,927,670 - 72,928,827 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha173,689,084 - 73,690,386 (+)NCBI
ROS_Cfam_1.0173,232,667 - 73,233,972 (+)NCBI
UMICH_Zoey_3.1173,042,847 - 73,044,149 (+)NCBI
UNSW_CanFamBas_1.0172,809,335 - 72,810,621 (+)NCBI
UU_Cfam_GSD_1.0173,514,553 - 73,515,855 (+)NCBI
GAS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11028,509,168 - 28,511,554 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21032,610,336 - 32,613,309 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GAS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11297,590,381 - 97,593,209 (-)NCBI
ChlSab1.1 Ensembl1297,591,762 - 97,592,805 (-)Ensembl
Vero_WHO_p1.0NW_02366603885,913,252 - 85,916,646 (-)NCBI
Gas1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480910,414,935 - 10,417,838 (+)NCBI

Position Markers
STS-L13698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37989,559,552 - 89,559,752UniSTSGRCh37
Build 36988,749,372 - 88,749,572RGDNCBI36
Celera960,128,331 - 60,128,531RGD
Cytogenetic Map9q21.3-q22UniSTS
HuRef959,383,726 - 59,383,926UniSTS
GeneMap99-GB4 RH Map9281.84UniSTS
WI-19256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37989,560,262 - 89,560,521UniSTSGRCh37
Build 36988,750,082 - 88,750,341RGDNCBI36
Celera960,129,041 - 60,129,300RGD
Cytogenetic Map9q21.3-q22UniSTS
HuRef959,384,436 - 59,384,695UniSTS
GeneMap99-GB4 RH Map9279.62UniSTS
Whitehead-RH Map9321.8UniSTS
UniSTS:482018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37989,560,610 - 89,561,736UniSTSGRCh37
Celera960,129,389 - 60,130,508UniSTS
Celera960,129,389 - 60,130,965UniSTS
HuRef959,384,784 - 59,385,910UniSTS
UniSTS:486591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37989,560,383 - 89,561,805UniSTSGRCh37
Celera960,129,162 - 60,130,577UniSTS
HuRef959,384,557 - 59,385,979UniSTS
UniSTS:494527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37989,560,453 - 89,561,779UniSTSGRCh37
Celera960,129,232 - 60,130,551UniSTS
HuRef959,384,627 - 59,385,953UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:481
Count of miRNA genes:397
Interacting mature miRNAs:421
Transcripts:ENST00000298743
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 1
Medium 1745 1662 840 144 207 10 3525 1242 835 124 925 1007 137 1186 2121 4
Low 594 609 799 403 458 376 828 946 2867 250 501 474 35 1 18 667 2 1
Below cutoff 55 676 72 66 809 68 4 5 27 41 21 70 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000298743   ⟹   ENSP00000298743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl986,944,362 - 86,947,506 (-)Ensembl
RefSeq Acc Id: NM_002048   ⟹   NP_002039
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38986,944,362 - 86,947,506 (-)NCBI
GRCh37989,559,277 - 89,562,104 (-)ENTREZGENE
Build 36988,749,098 - 88,751,924 (-)NCBI Archive
HuRef959,383,451 - 59,386,172 (-)ENTREZGENE
CHM1_1989,705,737 - 89,708,564 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002039   ⟸   NM_002048
- Peptide Label: precursor
- UniProtKB: P54826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000298743   ⟸   ENST00000298743


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002048.3(GAS1):c.599C>G (p.Thr200Arg) single nucleotide variant Holoprosencephaly 1 [RCV000024280] Chr9:86946181 [GRCh38]
Chr9:89561096 [GRCh37]
Chr9:9q21.33
uncertain significance
NM_002048.3(GAS1):c.776G>A (p.Gly259Glu) single nucleotide variant Holoprosencephaly 1 [RCV000024281] Chr9:86946004 [GRCh38]
Chr9:89560919 [GRCh37]
Chr9:9q21.33
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1 copy number loss See cases [RCV000137602] Chr9:86079851..91827221 [GRCh38]
Chr9:88694766..94589503 [GRCh37]
Chr9:87884586..93629324 [NCBI36]
Chr9:9q21.33-22.31
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.33(chr9:89520333-89854041)x3 copy number gain not provided [RCV000683115] Chr9:89520333..89854041 [GRCh37]
Chr9:9q21.33
uncertain significance
GRCh37/hg19 9q21.33(chr9:89554097-89574128)x3 copy number gain not provided [RCV000748504] Chr9:89554097..89574128 [GRCh37]
Chr9:9q21.33
benign
GRCh37/hg19 9q21.33(chr9:89558064-89562136)x1 copy number loss not provided [RCV000748505] Chr9:89558064..89562136 [GRCh37]
Chr9:9q21.33
benign
GRCh37/hg19 9q21.33(chr9:89560889-89562136)x1 copy number loss not provided [RCV000748506] Chr9:89560889..89562136 [GRCh37]
Chr9:9q21.33
benign
GRCh37/hg19 9q21.33(chr9:89560889-89574128)x3 copy number gain not provided [RCV000748507] Chr9:89560889..89574128 [GRCh37]
Chr9:9q21.33
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_002048.3(GAS1):c.189C>T (p.Tyr63=) single nucleotide variant not provided [RCV000943419] Chr9:86946591 [GRCh38]
Chr9:89561506 [GRCh37]
Chr9:9q21.33
likely benign
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_002048.3(GAS1):c.993C>G (p.Thr331=) single nucleotide variant not provided [RCV000939617] Chr9:86945787 [GRCh38]
Chr9:89560702 [GRCh37]
Chr9:9q21.33
benign
NM_002048.3(GAS1):c.652C>T (p.Leu218=) single nucleotide variant not provided [RCV000941507] Chr9:86946128 [GRCh38]
Chr9:89561043 [GRCh37]
Chr9:9q21.33
likely benign
NM_002048.3(GAS1):c.942G>T (p.Gly314=) single nucleotide variant not provided [RCV000920590] Chr9:86945838 [GRCh38]
Chr9:89560753 [GRCh37]
Chr9:9q21.33
likely benign
NM_002048.3(GAS1):c.312C>G (p.Arg104=) single nucleotide variant not provided [RCV000917738] Chr9:86946468 [GRCh38]
Chr9:89561383 [GRCh37]
Chr9:9q21.33
likely benign
NM_002048.3(GAS1):c.741G>A (p.Glu247=) single nucleotide variant not provided [RCV000962935] Chr9:86946039 [GRCh38]
Chr9:89560954 [GRCh37]
Chr9:9q21.33
benign
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_002048.3(GAS1):c.177G>A (p.Pro59=) single nucleotide variant not provided [RCV000934127] Chr9:86946603 [GRCh38]
Chr9:89561518 [GRCh37]
Chr9:9q21.33
likely benign
NM_002048.3(GAS1):c.-67C>T single nucleotide variant not provided [RCV001355789] Chr9:86946846 [GRCh38]
Chr9:89561761 [GRCh37]
Chr9:9q21.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4165 AgrOrtholog
COSMIC GAS1 COSMIC
Ensembl Genes ENSG00000180447 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000298743 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000298743 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000180447 GTEx
HGNC ID HGNC:4165 ENTREZGENE
Human Proteome Map GAS1 Human Proteome Map
InterPro GAS1 UniProtKB/Swiss-Prot
  GDNF/GAS1 UniProtKB/Swiss-Prot
KEGG Report hsa:2619 UniProtKB/Swiss-Prot
NCBI Gene 2619 ENTREZGENE
OMIM 139185 OMIM
PANTHER PTHR16840 UniProtKB/Swiss-Prot
Pfam GDNF UniProtKB/Swiss-Prot
PharmGKB PA28578 PharmGKB
SMART GDNF UniProtKB/Swiss-Prot
UniProt GAS1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B9EGM4 UniProtKB/Swiss-Prot
  Q6B086 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 GAS1  growth arrest specific 1    growth arrest-specific 1  Symbol and/or name change 5135510 APPROVED