GPT (glutamic--pyruvic transaminase) - Rat Genome Database

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Gene: GPT (glutamic--pyruvic transaminase) Homo sapiens
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Symbol: GPT
Name: glutamic--pyruvic transaminase
RGD ID: 734191
HGNC Page HGNC:4552
Description: Predicted to enable L-alanine:2-oxoglutarate aminotransferase activity. Predicted to be involved in several processes, including L-alanine catabolic process; cellular response to insulin stimulus; and positive regulation of gluconeogenesis. Located in extracellular exosome. Biomarker of liver cancer; liver cirrhosis; metabolic dysfunction-associated steatotic liver disease; and steatotic liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AAT1; alanine aminotransferase; alanine aminotransferase 1; alanine transaminase; ALT; ALT1; glutamate pyruvate transaminase 1; glutamic--alanine transaminase 1; glutamic--pyruvic transaminase 1; glutamic-alanine transaminase 1; glutamic-pyruvate transaminase (alanine aminotransferase); GPT 1; GPT1; SGPT
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
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,503,068 - 144,507,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,502,973 - 144,507,174 (+)EnsemblGRCh38hg38GRCh38
GRCh378145,728,451 - 145,732,555 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,700,231 - 145,703,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 348145,700,232 - 145,703,357NCBI
Celera8141,904,937 - 141,908,027 (+)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,842,619 - 140,845,709 (+)NCBIHuRef
CHM1_18145,767,740 - 145,770,746 (+)NCBICHM1_1
T2T-CHM13v2.08145,672,833 - 145,676,937 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(+)-isoborneol  (ISO)
(+)-pilocarpine  (EXP)
(+)-schisandrin B  (ISO)
(+)-taxifolin  (ISO)
(-)-ephedrine  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(-)-quinic acid  (ISO)
(1->4)-beta-D-glucan  (ISO)
(E)-thiamethoxam  (ISO)
(R)-carnitine  (ISO)
(R)-lipoic acid  (ISO)
(R,R)-tramadol  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-colchicine  (ISO)
(S)-naringenin  (ISO)
(S)-nicotine  (ISO)
1,1,2-trichloroethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichlorobenzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (ISO)
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (ISO)
1-aminobenzotriazole  (ISO)
1-bromopropane  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
1H-1,2,4-triazole  (ISO)
1H-pyrazole  (EXP,ISO)
2',4',6'-trihydroxyacetophenone  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-D  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-(tert-butylimino)-5-phenyl-3-(propan-2-yl)-1,3,5-thiadiazinan-4-one  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one  (ISO)
2-chloroethanol  (ISO)
2-methoxyethanol  (ISO)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-hydroxybutyric acid  (ISO)
3-methyladenine  (ISO)
3-methylglutaric acid  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-\{[4-(dimethylamino)phenyl]diazenyl\}phenyl-beta-lactoside  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (EXP,ISO)
5-(2-chloroethyl)-4-methylthiazole  (EXP,ISO)
5-(2-methylpiperazine-1-sulfonyl)isoquinoline  (ISO)
5-fluorouracil  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (ISO)
7,12-dimethyltetraphene  (ISO)
7,8-dihydroxycoumarin  (ISO)
8-Epidiosbulbin E acetate  (ISO)
9,11,13-octadecatrienoic acid  (ISO)
acephate  (ISO)
acetaldehyde  (EXP)
acetamide  (ISO)
acetamiprid  (ISO)
acetylleucyl-leucyl-norleucinal  (ISO)
acetylsalicylic acid  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
Aescin  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
alectinib  (EXP)
Alisol B  (ISO)
all-trans-retinol  (ISO)
allethrin  (ISO)
allicin  (ISO)
alloxan  (ISO)
allyl alcohol  (ISO)
allyl isothiocyanate  (ISO)
allyl methyl disulfide  (ISO)
alogliptin  (ISO)
alpha-amanitin  (ISO)
alpha-D-galactose  (ISO)
alpha-galactosylceramide  (ISO)
alpha-linolenic acid  (ISO)
alpha-mangostin  (ISO)
alpha-Zearalanol  (ISO)
aminoguanidine  (ISO)
amiodarone  (EXP,ISO)
amlexanox  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
Ammothamnine  (ISO)
amodiaquine  (ISO)
amphotericin B  (ISO)
ampicillin  (ISO)
andrographolide  (ISO)
Anetholtrithion  (ISO)
angelicin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
apigenin  (ISO)
arachidonic acid  (ISO)
aristolochic acid A  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
astaxanthin  (ISO)
astragaloside IV  (ISO)
atorvastatin calcium  (ISO)
atrazine  (ISO)
aucubin  (ISO)
Augmentin  (ISO)
aurantio-obtusin  (ISO)
azathioprine  (ISO)
azure A  (ISO)
baicalin  (ISO)
barium chloride  (ISO)
Bavachinin  (ISO)
BAY 60-6583  (ISO)
bentonite  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beraprost  (ISO)
berberine  (ISO)
Bergenin  (ISO)
beta-lapachone  (ISO)
beta-naphthoflavone  (ISO)
Betanin  (ISO)
bezafibrate  (ISO)
bicuculline  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
bisphenol F  (ISO)
Boldine  (ISO)
boric acid  (ISO)
boron atom  (ISO)
bosentan  (ISO)
bosutinib  (EXP)
bromobenzene  (ISO)
bromodichloromethane  (ISO)
brucine  (ISO)
buprenorphine  (ISO)
buprofezin  (ISO)
buspirone  (ISO)
Butralin  (ISO)
Butylbenzyl phthalate  (ISO)
cabozantinib  (EXP)
cadmium acetate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calciol  (ISO)
calcipotriol  (ISO)
Calpeptin  (ISO)
calycosin-7-O-beta-D-glucoside  (ISO)
cannabidiol  (ISO)
cannabigerol  (ISO)
cantharidin  (ISO)
capsaicin  (ISO)
captopril  (ISO)
carbendazim  (ISO)
carbidopa  (ISO)
carbofuran  (ISO)
carbon nanotube  (ISO)
carfilzomib  (ISO)
carnosic acid  (ISO)
carnosine  (ISO)
carvacrol  (ISO)
carvedilol  (ISO)
catalpol  (EXP)
celastrol  (ISO)
celecoxib  (ISO)
ceritinib  (EXP)
ceruletide  (ISO)
charcoal  (ISO)
chelerythrine  (ISO)
chenodeoxycholic acid  (ISO)
chitosan  (ISO)
chlordecone  (ISO)
chlorhexidine gluconate  (ISO)
Chlorobenzilate  (ISO)
Chlorodibromomethane  (EXP,ISO)
chloroethene  (ISO)
chloroform  (ISO)
chlorogenic acid  (ISO)
chloroquine  (EXP,ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
chrysin  (ISO)
ciprofloxacin  (ISO)
cis-caffeic acid  (ISO)
cisplatin  (EXP,ISO)
citral  (ISO)
clodronic acid  (ISO)
clomipramine  (ISO)
clotrimazole  (ISO)
clozapine  (EXP)
cobalt dichloride  (ISO)
cobimetinib  (ISO)
cocaine  (ISO)
coenzyme Q10  (ISO)
Columbin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
corn oil  (ISO)
corynoline  (ISO)
crizotinib  (EXP)
crocin-1  (ISO)
crotonaldehyde  (ISO)
Cryptotanshinone  (ISO)
cucurbitacin B  (EXP,ISO)
Cuprizon  (ISO)
curcumin  (ISO)
Curcumol  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cyfluthrin  (ISO)
cyhalothrin  (ISO)
cymoxanil  (ISO)
cypermethrin  (EXP,ISO)
D-gluconic acid  (ISO)
D-glucose  (EXP,ISO)
dabrafenib  (EXP)
dantrolene  (ISO)
dapagliflozin  (ISO)
DDE  (EXP)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
dehydroacetic acid  (ISO)
Dendrobine  (ISO)
deoxynivalenol  (ISO)
deoxypodophyllotoxin  (ISO)
dexamethasone  (ISO)
dexmedetomidine  (ISO)
dextran sulfate  (ISO)
dextromethorphan  (ISO)
Di-n-octyl phthalate  (EXP,ISO)
diallyl disulfide  (ISO)
Diallyl sulfide  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP,ISO)
dicloxacillin  (ISO)
dicofol  (ISO)
dicrotophos  (EXP)
diethyl phthalate  (ISO)
diethyldithiocarbamic acid  (EXP)
diethylene glycol monoethyl ether  (ISO)
difenoconazole  (ISO)
digoxin  (ISO)
dihydroartemisinin  (EXP)
Dihydrotanshinone I  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (ISO)
dimethylarsinic acid  (EXP)
dimethylmercury  (ISO)
Diosbulbin B  (ISO)
dioscin  (ISO)
dioxygen  (ISO)
diphenyl diselenide  (ISO)
diquat  (EXP,ISO)
disodium selenite  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
duvoglustat  (ISO)
elemental boron  (ISO)
elemental selenium  (ISO)
Elemicin  (ISO)
ellagic acid  (ISO)
emodin  (ISO)
endosulfan  (ISO)
ergothioneine  (ISO)
eriodictyol  (ISO)
eritoran  (ISO)
ethambutol  (ISO)
ethanol  (EXP,ISO)
eugenol  (ISO)
eumelanin  (ISO)
Evodiamine  (ISO)
farnesol  (ISO)
fenitrothion  (ISO)
fenofibrate  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
ferrocene  (ISO)
ferroheme b  (ISO)
ferrostatin-1  (ISO)
ferulic acid  (ISO)
Fexaramine  (ISO)
fipronil  (EXP,ISO)
flucloxacillin  (ISO)
fluoxetine  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fomepizole  (ISO)
fosinopril  (ISO)
fructooligosaccharide  (ISO)
fructose  (ISO)
fucoidan  (ISO)
fulvestrant  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
gadolinium trichloride  (ISO)
galactose  (ISO)
gallic acid  (EXP,ISO)
gamma-aminobutyric acid  (ISO)
gamma-hexachlorocyclohexane  (ISO)
Ganoderic acid A  (ISO)
gefitinib  (EXP)
Gelsemine  (ISO)
gemfibrozil  (ISO)
Geniposide  (ISO)
genistein  (ISO)
geranial  (ISO)
geraniol  (ISO)
Ginkgoic acid  (ISO)
Ginkgolide A  (ISO)
ginkgolide B  (EXP,ISO)
ginsenoside Rg1  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
glyburide  (ISO)
glycine betaine  (ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
glycyrrhizinic acid  (ISO)
glyphosate  (EXP,ISO)
gold atom  (EXP,ISO)
gold(0)  (EXP,ISO)
Guanabenz  (ISO)
guggulsterone  (ISO)
GW 4064  (ISO)
GW 7647  (ISO)
halothane  (ISO)
heme b  (ISO)
heparin  (ISO)
herbacetin  (ISO)
herbicide  (ISO)
heroin  (ISO)
hesperidin  (ISO)
hexachlorobenzene  (ISO)
hexadecanoic acid  (EXP)
hexaflumuron  (ISO)
homocysteine  (ISO)
hydralazine  (ISO)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP,ISO)
ibrutinib  (EXP)
icariin  (ISO)
icariside II  (EXP,ISO)
idelalisib  (ISO)
imetit  (ISO)
imidacloprid  (EXP,ISO)
imiprothrin  (ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
irbesartan  (ISO)
irinotecan  (ISO)
iron atom  (ISO)
iron dextran  (ISO)
iron dichloride  (EXP)
iron(0)  (ISO)
iron(3+) sulfate  (ISO)
isoliquiritigenin  (ISO)
isoniazide  (EXP,ISO)
isoprenaline  (ISO)
isoproturon  (ISO)
isorhamnetin  (ISO)
isotretinoin  (ISO)
itraconazole  (ISO)
ivermectin  (ISO)
Jujuboside A  (EXP,ISO)
kaempferol  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lactucin  (ISO)
lactulose  (ISO)
lapatinib  (EXP)
Lasiocarpine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
Leonurine  (ISO)
leupeptin  (ISO)
levetiracetam  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
liquiritigenin  (ISO)
liquiritin  (ISO)
liraglutide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lithocholic acid  (EXP,ISO)
losartan  (ISO)
lovastatin  (ISO)
luteolin  (ISO)
LY294002  (ISO)
magnesium atom  (ISO)
malathion  (ISO)
Malotilate  (ISO)
mancozeb  (ISO)
manganese dioxide  (ISO)
mangiferin  (ISO)
melatonin  (ISO)
mercury atom  (ISO)
mercury dichloride  (ISO)
mercury(0)  (ISO)
mesalamine  (ISO)
metformin  (EXP,ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methoxsalen  (ISO)
methylmercury chloride  (ISO)
metronidazole  (ISO)
Microcystin la  (ISO)
microcystin RR  (ISO)
microcystin-LR  (ISO)
mifepristone  (ISO)
mirtazapine  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
morin  (ISO)
Muraglitazar  (ISO)
muscimol  (ISO)
myricetin  (ISO)
myricitrin  (ISO)
N(5)-ethyl-L-glutamine  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N,N-dimethylformamide  (ISO)
N,N-dimethylglycine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-acetylsphingosine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naringin  (ISO)
neohesperidin dihydrochalcone  (ISO)
neomycin  (ISO)
nerolidol  (ISO)
nevirapine  (ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
nickel sulfate  (ISO)
nicotinamide  (ISO)
nicotine  (ISO)
nicotinic acid  (ISO)
nilotinib  (EXP,ISO)
nimesulide  (ISO)
nitroglycerin  (ISO)
nitroprusside  (ISO)
NMN zwitterion  (ISO)
nobiletin  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (ISO)
ochratoxin A  (ISO)
octamethylcyclotetrasiloxane  (ISO)
octreotide  (ISO)
olanzapine  (ISO)
olaparib  (ISO)
oleanolic acid  (ISO)
oleic acid  (EXP)
oleuropein  (ISO)
oltipraz  (EXP)
omaveloxolone  (ISO)
omethoate  (ISO)
orlistat  (ISO)
oroxylin A  (ISO)
osimertinib  (EXP)
Oxadiazon  (ISO)
oxaliplatin  (ISO)
oxycodone  (ISO)
ozone  (ISO)
paclobutrazol  (ISO)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (ISO)
parathion-methyl  (ISO)
paroxetine  (ISO)
patulin  (ISO)
penconazole  (ISO)
pendimethalin  (ISO)
perfluorodecanoic acid  (EXP,ISO)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
perindopril  (ISO)
phenethyl isothiocyanate  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
phloretin  (ISO)
phorate  (ISO)
Picroside ii  (ISO)
pinocembrin  (ISO)
pioglitazone  (ISO)
piperine  (ISO)
pirfenidone  (ISO)
pirinixic acid  (EXP,ISO)
poly(ethylene)  (ISO)
poly(vinyl chloride)  (ISO)
polymyxin B2  (ISO)
polyphosphates  (EXP,ISO)
ponatinib  (EXP)
potassium bromate  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
probenecid  (ISO)
progesterone  (ISO)
propacetamol  (ISO)
propiconazole  (ISO)
prostaglandin E2  (ISO)
psoralen  (ISO)
puerarin  (ISO)
pyrazine-2-carboxylic acid  (ISO)
pyrazinecarboxamide  (ISO)
pyrethrins  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-galactopyranoside  (ISO)
rac-1,2-dichloropropane  (ISO)
ramipril  (ISO)
raspberry ketone  (ISO)
regorafenib  (EXP)
resveratrol  (EXP,ISO)
Retrorsine  (ISO)
Rhein  (ISO)
Ribociclib  (EXP)
rifampicin  (EXP,ISO)
rimonabant  (EXP,ISO)
risperidone  (ISO)
rivaroxaban  (ISO)
rosmarinic acid  (ISO)
rotenone  (ISO)
rottlerin  (ISO)
Rutecarpine  (ISO)
rutin  (ISO)
ruxolitinib  (ISO)
ryanodine  (ISO)
S-allylcysteine  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
Salvianolic acid A  (ISO)
salvianolic acid B  (ISO)
sarpogrelate  (ISO)
SB 203580  (ISO)
scoparone  (ISO)
scopoletin  (ISO)
selenium atom  (ISO)
senecionine  (ISO)
sildenafil citrate  (ISO)
silibinin  (EXP,ISO)
sinapic acid  (ISO)
sirolimus  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sodium nitrite  (ISO)
sodium silicate  (ISO)
sodium sulfite  (EXP)
sodium tungstate  (ISO)
solanesol  (EXP)
Soman  (ISO)
sorafenib  (EXP,ISO)
squalene  (ISO)
stattic  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sucrose  (ISO)
sulfasalazine  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP,ISO)
syringic acid  (ISO)
T-2 toxin  (ISO)
tadalafil  (ISO)
tamoxifen  (ISO)
Tanshinone I  (ISO)
tapentadol  (ISO)
taurine  (ISO)
taurodeoxycholic acid  (ISO)
tauroursodeoxycholic acid  (ISO)
tectorigenin  (ISO)
telmisartan  (ISO)
tert-butyl hydroperoxide  (ISO)
Tesaglitazar  (ISO)
testosterone cypionate  (ISO)
tetrachloro-1,4-benzoquinone  (ISO)
tetrachloromethane  (EXP,ISO)
tetrahydrocurcumin  (ISO)
thiacloprid  (ISO)
thiamethoxam  (ISO)
thioacetamide  (ISO)
thymoquinone  (ISO)
thyroxine  (ISO)
titanium dioxide  (ISO)
toosendanin  (ISO)
tramadol  (ISO)
trans-caffeic acid  (ISO)
tranylcypromine  (ISO)
trelagliptin  (ISO)
trichloroacetic acid  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (EXP,ISO)
tris(2-chloroethyl) phosphate  (ISO)
troglitazone  (ISO)
tuberostemonine  (ISO)
tunicamycin  (ISO)
tyloxapol  (ISO)
ubiquinones  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
ursolic acid  (ISO)
vadimezan  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vandetanib  (EXP)
varespladib  (ISO)
verapamil  (ISO)
verteporfin  (ISO)
vildagliptin  (ISO)
vincristine  (ISO)
Vinpocetine  (ISO)
vitamin D  (ISO)
vitamin E  (ISO)
vitamin K  (ISO)
voriconazole  (ISO)
withaferin A  (ISO)
XAV939  (ISO)
zearalenone  (ISO)
zidovudine  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc molecular entity  (ISO)
zinc oxide  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)
zolmitriptan  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GC-MS Analysis: In Vivo Hepatoprotective and Antioxidant Activities of the Essential Oil of Achillea biebersteinii Afan. Growing in Saudi Arabia. Al-Said MS, etal., Evid Based Complement Alternat Med. 2016;2016:1867048. doi: 10.1155/2016/1867048. Epub 2016 May 12.
2. [Rosiglitazone protects against endotoxin-induced acute liver injury in rats]. Bu Y and Yu J, Zhonghua Yi Xue Za Zhi. 2015 Oct 20;95(39):3180-3.
3. A Chinese herbal medicine, Gexia-Zhuyu Tang (GZT), prevents dimethylnitrosamine-induced liver fibrosis through inhibition of hepatic stellate cells proliferation. Chen JY, etal., J Ethnopharmacol. 2012 Aug 1;142(3):811-8. doi: 10.1016/j.jep.2012.06.005. Epub 2012 Jun 15.
4. D-lactate is not a reliable marker of gut ischemia-reperfusion in a rat model of supraceliac aortic clamping. Collange O, etal., Crit Care Med. 2006 May;34(5):1415-9. doi: 10.1097/01.CCM.0000214517.24064.35.
5. ANTIOXIDANT ACTIVITY IN VITRO AND HEPATOPROTECTIVE EFFECTS IN VIVO OF COMPOUND LOBELIA. Cui X, etal., Afr J Tradit Complement Altern Med. 2016 Aug 12;13(5):114-122. doi: 10.21010/ajtcam.v13i5.15. eCollection 2016.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Therapeutic Potential of Biochanin-A Against Isoproterenol-Induced Myocardial Infarction in Rats. Govindasami S, etal., Cardiovasc Hematol Agents Med Chem. 2020;18(1):31-36. doi: 10.2174/1871525718666200206114304.
8. Effects of model traumatic injury on hepatic drug metabolism in the rat. I. In vivo antipyrine metabolism. Griffeth LK, etal., Drug Metab Dispos. 1983 Nov-Dec;11(6):517-25.
9. Characteristics and course of chronic hepatitis B e antigen-negative infection. Guardiola Arévalo A, etal., Gastroenterol Hepatol. 2017 Feb;40(2):59-69. doi: 10.1016/j.gastrohep.2016.11.002. Epub 2016 Dec 20.
10. Hepatitis B virus e antigen-negative chronic infection. Treatment based on glutamic pyruvic transaminase and hepatitis B virus deoxyribonucleic acid cut-off values. Guardiola-Arévalo A, etal., Gastroenterol Hepatol. 2018 Mar;41(3):153-162. doi: 10.1016/j.gastrohep.2017.11.003. Epub 2017 Dec 24.
11. [Non-alcoholic fatty liver in children and adolescents with excess weight and obesity]. Guijarro de Armas MG, etal., Med Clin (Barc). 2015 Jan 20;144(2):55-8. doi: 10.1016/j.medcli.2014.02.018. Epub 2014 Apr 24.
12. New technique for inducing reversible obstructive jaundice in the rat. Hirazawa K, etal., Eur Surg Res. 1997;29(3):195-201.
13. Exogenous heat shock cognate protein 70 pretreatment attenuates cardiac and hepatic dysfunction with associated anti-inflammatory responses in experimental septic shock. Hsu JH, etal., Shock. 2014 Dec;42(6):540-7. doi: 10.1097/SHK.0000000000000254.
14. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
15. Immunological measurement of aspartate/alanine aminotransferase in predicting liver fibrosis and inflammation. Kim HJ, etal., Korean J Intern Med. 2019 Jan 23. pii: kjim.2018.214. doi: 10.3904/kjim.2018.214.
16. Liver protective activity of a hydroethanolic extract of Arrabidaea chica (Humb. and Bonpl.) B. Verl. (pariri). Lima de Medeiros BJ, etal., Pharmacognosy Res. 2011 Apr;3(2):79-84. doi: 10.4103/0974-8490.81954.
17. Dexamethasone improves heat stroke-induced multiorgan dysfunction and damage in rats. Liu CC, etal., Int J Mol Sci. 2014 Nov 18;15(11):21299-313. doi: 10.3390/ijms151121299.
18. Increased hepatic expression is a major determinant of serum alanine aminotransferase elevation in mice with nonalcoholic steatohepatitis. Liu R, etal., Liver Int. 2009 Mar;29(3):337-43. doi: 10.1111/j.1478-3231.2008.01862.x. Epub 2008 Aug 14.
19. Clinical relevance of reporting fatty liver on ultrasound in asymptomatic patients during routine health checkups. Mahale AR, etal., J Int Med Res. 2018 Nov;46(11):4447-4454. doi: 10.1177/0300060518793039. Epub 2018 Sep 5.
20. Inhibition of matrix metalloproteinase on hepatic transforming growth factor beta1 and caspase-3 activation in hemorrhage. Maitra SR, etal., Acad Emerg Med. 2005 Sep;12(9):797-803. doi: 10.1197/j.aem.2005.04.017.
21. Effects of saikosaponins on hepatic damage induced by halothane and hypoxia in phenobarbital-pretreated rats. Nishiura T, etal., J Anesth. 1994 Mar;8(1):87-92. doi: 10.1007/BF02482762.
22. In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis. Pagliarini R, etal., Cell Rep. 2016 Jun 7;15(10):2292-2300. doi: 10.1016/j.celrep.2016.05.014. Epub 2016 May 26.
23. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
24. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
25. Hepatic ALT isoenzymes are elevated in gluconeogenic conditions including diabetes and suppressed by insulin at the protein level. Qian K, etal., Diabetes Metab Res Rev. 2015 Sep;31(6):562-71. doi: 10.1002/dmrr.2655. Epub 2015 Jun 17.
26. Isoform-specific alanine aminotransferase measurement can distinguish hepatic from extrahepatic injury in humans. Rafter I, etal., Int J Mol Med. 2012 Nov;30(5):1241-9. doi: 10.3892/ijmm.2012.1106. Epub 2012 Aug 23.
27. Pretreatment of Tribulus terrestris L. causes anti-ischemic cardioprotection through MAPK mediated anti-apoptotic pathway in rat. Reshma PL, etal., Biomed Pharmacother. 2019 Mar;111:1342-1352. doi: 10.1016/j.biopha.2019.01.033. Epub 2019 Jan 16.
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. Alpha-lipoic acid prevents endotoxic shock and multiple organ dysfunction syndrome induced by endotoxemia in rats. Shen HH, etal., Shock. 2015 Apr;43(4):405-11. doi: 10.1097/SHK.0000000000000295.
30. Association between MFN2 gene polymorphisms and the risk and prognosis of acute liver failure: a case-control study in a Chinese population. Wei YL, etal., Braz J Med Biol Res. 2017 May 15;50(6):e5758. doi: 10.1590/1414-431X20175758.
31. [D-Ala2, D-Leu5] enkephalin (DADLE) protects liver against ischemia-reperfusion injury in the rat. Yamanouchi K, etal., J Surg Res. 2003 Sep;114(1):72-7. doi: 10.1016/s0022-4804(03)00196-3.
32. Recombinant human erythropoietin reduces rhabdomyolysis-induced acute renal failure in rats. Yang FL, etal., Injury. 2012 Mar;43(3):367-73. doi: 10.1016/j.injury.2011.11.013. Epub 2011 Dec 30.
33. Alanine aminotransferase isoenzymes: molecular cloning and quantitative analysis of tissue expression in rats and serum elevation in liver toxicity. Yang RZ, etal., Hepatology. 2009 Feb;49(2):598-607. doi: 10.1002/hep.22657.
34. Liver reperfusion-induced decrease in dynamic compliance and increase in airway resistance are ameliorated by preischemic treatment with melatonin through scavenging hydroxyl radicals in rat lungs. Yeh JH, etal., Transplant Proc. 2012 May;44(4):966-9. doi: 10.1016/j.transproceed.2012.01.076.
35. Influences of Edaravone on Necroptosis-Related Proteins and Oxidative Stress in Rats with Lower Extremity Ischemia/Reperfusion Injury. Zhao G, etal., Cell Mol Biol (Noisy-le-grand). 2022 Jul 31;68(7):95-100. doi: 10.14715/cmb/2022.68.7.16.
Additional References at PubMed
PMID:49232   PMID:1931970   PMID:3192219   PMID:5581908   PMID:7114790   PMID:7114791   PMID:7361762   PMID:8125298   PMID:9119391   PMID:11863375   PMID:12358155   PMID:12477932  
PMID:12480555   PMID:12774006   PMID:14506613   PMID:15306699   PMID:15342556   PMID:15489334   PMID:16652026   PMID:17134955   PMID:17378732   PMID:17405346   PMID:17570354   PMID:17764776  
PMID:17766001   PMID:17877759   PMID:17907292   PMID:17907318   PMID:17934148   PMID:18090161   PMID:18178283   PMID:18242760   PMID:18315552   PMID:18432999   PMID:18473412   PMID:18508279  
PMID:18708042   PMID:18763311   PMID:18774966   PMID:19012630   PMID:19056867   PMID:19065605   PMID:19100265   PMID:19159884   PMID:19217453   PMID:19232448   PMID:19303161   PMID:19360321  
PMID:19370784   PMID:19393479   PMID:19687577   PMID:19938201   PMID:20032584   PMID:20190678   PMID:20205615   PMID:20387481   PMID:20433554   PMID:20872970   PMID:20961180   PMID:20972737  
PMID:21040936   PMID:21199427   PMID:21692932   PMID:21715038   PMID:21720553   PMID:21873635   PMID:21987480   PMID:21988832   PMID:22132177   PMID:22140488   PMID:22158663   PMID:22177542  
PMID:22242166   PMID:22293393   PMID:22352690   PMID:22357454   PMID:22389715   PMID:22954960   PMID:22975640   PMID:23119080   PMID:23384374   PMID:23403445   PMID:23522007   PMID:23667618  
PMID:23880909   PMID:23884827   PMID:24158044   PMID:24205292   PMID:24275711   PMID:24324749   PMID:24349501   PMID:24500143   PMID:24691744   PMID:24819732   PMID:24849491   PMID:24937007  
PMID:24953204   PMID:25145475   PMID:25201988   PMID:25219834   PMID:25272068   PMID:25437895   PMID:25543901   PMID:25874513   PMID:26160405   PMID:26290281   PMID:26344197   PMID:26446640  
PMID:26496610   PMID:26632395   PMID:26664483   PMID:26791191   PMID:26791408   PMID:27260292   PMID:27304617   PMID:27390880   PMID:27430334   PMID:27935953   PMID:28007909   PMID:28415934  
PMID:28540298   PMID:28540984   PMID:28628604   PMID:28796937   PMID:29192630   PMID:29553104   PMID:29897928   PMID:30134916   PMID:30204299   PMID:30333032   PMID:30453754   PMID:30566759  
PMID:30946812   PMID:30973940   PMID:31753913   PMID:31900314   PMID:32139603   PMID:32157800   PMID:32235678   PMID:32386449   PMID:32849256   PMID:33408301   PMID:33742744   PMID:33961781  
PMID:34099767   PMID:34315874   PMID:34355631   PMID:35853763   PMID:36107005   PMID:36852647   PMID:37027905   PMID:37403787   PMID:37752709   PMID:38089616   PMID:38172739   PMID:38305614  


Genomics

Comparative Map Data
GPT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,503,068 - 144,507,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,502,973 - 144,507,174 (+)EnsemblGRCh38hg38GRCh38
GRCh378145,728,451 - 145,732,555 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,700,231 - 145,703,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 348145,700,232 - 145,703,357NCBI
Celera8141,904,937 - 141,908,027 (+)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,842,619 - 140,845,709 (+)NCBIHuRef
CHM1_18145,767,740 - 145,770,746 (+)NCBICHM1_1
T2T-CHM13v2.08145,672,833 - 145,676,937 (+)NCBIT2T-CHM13v2.0
Gpt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,580,926 - 76,583,875 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,579,916 - 76,583,886 (+)EnsemblGRCm39 Ensembl
GRCm381576,696,726 - 76,699,675 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,695,716 - 76,699,686 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,527,194 - 76,530,105 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,524,016 - 76,526,930 (+)NCBIMGSCv36mm8
Celera1578,190,374 - 78,193,285 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.28NCBI
Gpt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,295,599 - 110,300,134 (+)NCBIGRCr8
mRatBN7.27108,416,646 - 108,419,495 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,416,642 - 108,419,494 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7110,158,569 - 110,161,418 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,382,143 - 112,384,992 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,342,892 - 112,345,741 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,759,083 - 117,761,932 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,759,083 - 117,761,931 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,745,308 - 117,749,938 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,746,054 - 114,748,903 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7104,766,538 - 104,769,387 (+)NCBICelera
Cytogenetic Map7q34NCBI
Gpt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,127,997 - 3,132,459 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,127,997 - 3,132,459 (+)NCBIChiLan1.0ChiLan1.0
GPT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27161,994,411 - 161,999,064 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,522,660 - 137,528,193 (+)NCBINHGRI_mPanPan1
PanPan1.1 Ensembl8144,259,991 - 144,263,737 (+)Ensemblpanpan1.1panPan2
GPT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,923,757 - 37,927,843 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,924,422 - 37,926,156 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,884,479 - 37,888,507 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,397,476 - 38,401,488 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,398,154 - 38,404,357 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11338,089,429 - 38,093,531 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,197,829 - 38,201,856 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,674,294 - 38,678,329 (+)NCBIUU_Cfam_GSD_1.0
Gpt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303339,711 - 344,808 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364707,765,703 - 7,768,465 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364707,765,810 - 7,770,837 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP1R16A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4297,748 - 320,056 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14302,621 - 320,048 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24393,621 - 411,067 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,716,802 - 138,721,421 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,718,767 - 138,721,251 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660391,133,510 - 1,138,125 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gpt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473512,355,476 - 12,360,028 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473512,355,476 - 12,359,910 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GPT
76 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005309.3(GPT):c.40C>G (p.His14Asp) single nucleotide variant GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM [RCV000017468] Chr8:144504344 [GRCh38]
Chr8:145729727 [GRCh37]
Chr8:8q24.3
benign
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 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 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 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
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 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 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 8q21.13-24.3(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 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 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 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
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 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
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 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 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 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
NM_005309.3(GPT):c.757G>A (p.Glu253Lys) single nucleotide variant not specified [RCV004325016] Chr8:144505865 [GRCh38]
Chr8:145731248 [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 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..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 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(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [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(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [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 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [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(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [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(chr8:145667662-145763152)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(chr8:145692296-145753271)x1 copy number loss not provided [RCV000748038] Chr8:145692296..145753271 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.327G>A (p.Glu109=) single nucleotide variant not provided [RCV000893607] Chr8:144504845 [GRCh38]
Chr8:145730228 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.567C>T (p.Tyr189=) single nucleotide variant not provided [RCV000916739] Chr8:144505317 [GRCh38]
Chr8:145730700 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.796C>G (p.Arg266Gly) single nucleotide variant not provided [RCV000963655] Chr8:144505904 [GRCh38]
Chr8:145731287 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.231G>A (p.Arg77=) single nucleotide variant not provided [RCV000882210] Chr8:144504672 [GRCh38]
Chr8:145730055 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.381C>T (p.Ser127=) single nucleotide variant not provided [RCV000919908] Chr8:144505017 [GRCh38]
Chr8:145730400 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.600C>T (p.Gly200=) single nucleotide variant not provided [RCV000971327] Chr8:144505350 [GRCh38]
Chr8:145730733 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.306C>T (p.Asp102=) single nucleotide variant not provided [RCV000897795] Chr8:144504824 [GRCh38]
Chr8:145730207 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.840C>T (p.Tyr280=) single nucleotide variant not provided [RCV000894782] Chr8:144506015 [GRCh38]
Chr8:145731398 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.32C>A (p.Ala11Glu) single nucleotide variant not provided [RCV000882373] Chr8:144504336 [GRCh38]
Chr8:144504336..144504337 [GRCh38]
Chr8:145729719 [GRCh37]
Chr8:145729719..145729720 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.320G>A (p.Arg107Lys) single nucleotide variant not provided [RCV000953147] Chr8:144504838 [GRCh38]
Chr8:145730221 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.441C>T (p.Ile147=) single nucleotide variant not provided [RCV000924117] Chr8:144505077 [GRCh38]
Chr8:145730460 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005309.3(GPT):c.329G>A (p.Arg110His) single nucleotide variant not specified [RCV004332011] Chr8:144504847 [GRCh38]
Chr8:145730230 [GRCh37]
Chr8:8q24.3
uncertain significance
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
NM_005309.3(GPT):c.1434G>A (p.Arg478=) single nucleotide variant not provided [RCV000979251] Chr8:144506943 [GRCh38]
Chr8:145732326 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.592G>C (p.Glu198Gln) single nucleotide variant not provided [RCV000976662] Chr8:144505342 [GRCh38]
Chr8:145730725 [GRCh37]
Chr8:8q24.3
likely benign
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 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 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1 copy number loss not provided [RCV000846781] Chr8:145645435..145881333 [GRCh37]
Chr8:8q24.3
uncertain significance
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
NM_005309.3(GPT):c.174G>A (p.Lys58=) single nucleotide variant not provided [RCV000886544] Chr8:144504615 [GRCh38]
Chr8:145729998 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.956+9G>A single nucleotide variant not provided [RCV000933556] Chr8:144506140 [GRCh38]
Chr8:145731523 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.766G>C (p.Glu256Gln) single nucleotide variant not provided [RCV000906151] Chr8:144505874 [GRCh38]
Chr8:145731257 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.676G>T (p.Gly226Cys) single nucleotide variant not provided [RCV000955399] Chr8:144505426 [GRCh38]
Chr8:145730809 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.1280G>A (p.Arg427His) single nucleotide variant not provided [RCV000933701] Chr8:144506649 [GRCh38]
Chr8:145732032 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.252+10C>T single nucleotide variant not provided [RCV000913502] Chr8:144504703 [GRCh38]
Chr8:145730086 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.1287+8G>A single nucleotide variant not provided [RCV000913876] Chr8:144506664 [GRCh38]
Chr8:145732047 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.1288G>C (p.Glu430Gln) single nucleotide variant not provided [RCV000890174] Chr8:144506731 [GRCh38]
Chr8:144506731..144506732 [GRCh38]
Chr8:145732114 [GRCh37]
Chr8:145732114..145732115 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_005309.3(GPT):c.1354G>C (p.Val452Leu) single nucleotide variant not provided [RCV000890175] Chr8:144506797 [GRCh38]
Chr8:145732180 [GRCh37]
Chr8:8q24.3
benign|likely benign
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(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
Single allele duplication Recombinant 8 syndrome [RCV004801486] Chr8:141711312..145138635 [GRCh38]
Chr8:8q24.3
likely 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
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3
uncertain significance|no classifications from unflagged records
NC_000008.10:g.(?_145729802)_(145737046_?)del deletion Baller-Gerold syndrome [RCV001920467] Chr8:145729802..145737046 [GRCh37]
Chr8:8q24.3
uncertain significance
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
NM_005309.3(GPT):c.751A>C (p.Thr251Pro) single nucleotide variant not specified [RCV004323112] Chr8:144505859 [GRCh38]
Chr8:145731242 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1267C>T (p.Arg423Trp) single nucleotide variant not specified [RCV004108210] Chr8:144506636 [GRCh38]
Chr8:145732019 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.113G>A (p.Arg38His) single nucleotide variant not specified [RCV004235906] Chr8:144504417 [GRCh38]
Chr8:145729800 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.158G>A (p.Arg53His) single nucleotide variant not specified [RCV004116090] Chr8:144504462 [GRCh38]
Chr8:145729845 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.193C>T (p.Arg65Cys) single nucleotide variant not specified [RCV004200676] Chr8:144504634 [GRCh38]
Chr8:145730017 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1211G>A (p.Ser404Asn) single nucleotide variant not specified [RCV004083025] Chr8:144506580 [GRCh38]
Chr8:145731963 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.493G>A (p.Val165Met) single nucleotide variant not specified [RCV004237211] Chr8:144505129 [GRCh38]
Chr8:145730512 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.539C>T (p.Thr180Met) single nucleotide variant not specified [RCV004088606] Chr8:144505289 [GRCh38]
Chr8:145730672 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.739+43_739+84del deletion not provided [RCV002918756] Chr8:144505491..144505532 [GRCh38]
Chr8:145730874..145730915 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1252G>A (p.Val418Met) single nucleotide variant not specified [RCV004224916] Chr8:144506621 [GRCh38]
Chr8:145732004 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1340C>A (p.Thr447Asn) single nucleotide variant not specified [RCV004168093] Chr8:144506783 [GRCh38]
Chr8:145732166 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.800T>C (p.Leu267Pro) single nucleotide variant not specified [RCV004175886] Chr8:144505908 [GRCh38]
Chr8:145731291 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.260C>T (p.Ala87Val) single nucleotide variant not specified [RCV004123392] Chr8:144504778 [GRCh38]
Chr8:145730161 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1432C>T (p.Arg478Trp) single nucleotide variant not specified [RCV004168807] Chr8:144506941 [GRCh38]
Chr8:145732324 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1090C>T (p.Pro364Ser) single nucleotide variant not specified [RCV004166994] Chr8:144506365 [GRCh38]
Chr8:145731748 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.110T>C (p.Val37Ala) single nucleotide variant not specified [RCV004114897] Chr8:144504414 [GRCh38]
Chr8:145729797 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1378C>T (p.Arg460Trp) single nucleotide variant not specified [RCV004076708] Chr8:144506821 [GRCh38]
Chr8:145732204 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1262C>A (p.Pro421His) single nucleotide variant not specified [RCV004214511] Chr8:144506631 [GRCh38]
Chr8:145732014 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1324C>T (p.Arg442Cys) single nucleotide variant not specified [RCV004089941] Chr8:144506767 [GRCh38]
Chr8:145732150 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.92G>A (p.Arg31Gln) single nucleotide variant not specified [RCV004252749] Chr8:144504396 [GRCh38]
Chr8:145729779 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1093C>A (p.Pro365Thr) single nucleotide variant not specified [RCV004356787] Chr8:144506368 [GRCh38]
Chr8:145731751 [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(chr8:145080420-146258478)x3 copy number gain not provided [RCV003484758] Chr8:145080420..146258478 [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
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_005309.3(GPT):c.1430T>C (p.Leu477Pro) single nucleotide variant not specified [RCV004393488] Chr8:144506939 [GRCh38]
Chr8:145732322 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.35T>A (p.Val12Glu) single nucleotide variant not specified [RCV004393491] Chr8:144504339 [GRCh38]
Chr8:145729722 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.86G>A (p.Arg29His) single nucleotide variant not specified [RCV004393496] Chr8:144504390 [GRCh38]
Chr8:145729773 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1118C>T (p.Ala373Val) single nucleotide variant not specified [RCV004393484] Chr8:144506393 [GRCh38]
Chr8:145731776 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1193A>G (p.Asn398Ser) single nucleotide variant not specified [RCV004393485] Chr8:144506562 [GRCh38]
Chr8:145731945 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.737C>T (p.Thr246Ile) single nucleotide variant not specified [RCV004393493] Chr8:144505487 [GRCh38]
Chr8:145730870 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.835G>C (p.Val279Leu) single nucleotide variant not specified [RCV004393495] Chr8:144506010 [GRCh38]
Chr8:145731393 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.968G>A (p.Arg323His) single nucleotide variant not specified [RCV004393497] Chr8:144506243 [GRCh38]
Chr8:145731626 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1102A>T (p.Thr368Ser) single nucleotide variant not specified [RCV004393483] Chr8:144506377 [GRCh38]
Chr8:145731760 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.1433G>A (p.Arg478Gln) single nucleotide variant not specified [RCV004393489] Chr8:144506942 [GRCh38]
Chr8:145732325 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.968G>C (p.Arg323Pro) single nucleotide variant not specified [RCV004393498] Chr8:144506243 [GRCh38]
Chr8:145731626 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3 copy number gain not provided [RCV004577489] Chr8:145033578..146296885 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1399C>T (p.Arg467Trp) single nucleotide variant not specified [RCV004393487] Chr8:144506842 [GRCh38]
Chr8:145732225 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.748C>A (p.Gln250Lys) single nucleotide variant not specified [RCV004393494] Chr8:144505856 [GRCh38]
Chr8:145731239 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1285C>G (p.Gln429Glu) single nucleotide variant not specified [RCV004393486] Chr8:144506654 [GRCh38]
Chr8:145732037 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.205G>A (p.Gly69Arg) single nucleotide variant not specified [RCV004393490] Chr8:144504646 [GRCh38]
Chr8:145730029 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.536G>A (p.Arg179His) single nucleotide variant not specified [RCV004393492] Chr8:144505286 [GRCh38]
Chr8:145730669 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.373G>A (p.Val125Ile) single nucleotide variant not specified [RCV004632637] Chr8:144505009 [GRCh38]
Chr8:145730392 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.497C>T (p.Thr166Met) single nucleotide variant not specified [RCV004632638] Chr8:144505247 [GRCh38]
Chr8:145730630 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.280C>T (p.Leu94Phe) single nucleotide variant not specified [RCV004632639] Chr8:144504798 [GRCh38]
Chr8:145730181 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.980T>C (p.Val327Ala) single nucleotide variant not specified [RCV004632640] Chr8:144506255 [GRCh38]
Chr8:145731638 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.686G>A (p.Arg229His) single nucleotide variant not specified [RCV004632641] Chr8:144505436 [GRCh38]
Chr8:145730819 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1442T>C (p.Leu481Pro) single nucleotide variant not specified [RCV004632642] Chr8:144506951 [GRCh38]
Chr8:145732334 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1274T>C (p.Val425Ala) single nucleotide variant not specified [RCV004624015] Chr8:144506643 [GRCh38]
Chr8:145732026 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1096G>A (p.Ala366Thr) single nucleotide variant not specified [RCV004351179] Chr8:144506371 [GRCh38]
Chr8:145731754 [GRCh37]
Chr8:8q24.3
uncertain significance
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(chr8:145655903-145742879)x1 copy number loss not provided [RCV000748028] Chr8:145655903..145742879 [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 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
NM_005309.3(GPT):c.22C>T (p.Arg8Trp) single nucleotide variant not specified [RCV004233153] Chr8:144504326 [GRCh38]
Chr8:145729709 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_005309.3(GPT):c.1097C>T (p.Ala366Val) single nucleotide variant not specified [RCV004300009] Chr8:144506372 [GRCh38]
Chr8:145731755 [GRCh37]
Chr8:8q24.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3047
Count of miRNA genes:941
Interacting mature miRNAs:1167
Transcripts:ENST00000354769, ENST00000394955, ENST00000527165, ENST00000527961, ENST00000528431, ENST00000531330, ENST00000534702
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597340442GWAS1436516_Hserum alanine aminotransferase measurement QTL GWAS1436516 (human)1e-490serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506731144506732Human
597096340GWAS1192414_Hserum alanine aminotransferase measurement QTL GWAS1192414 (human)3e-38serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506797144506798Human
597490320GWAS1586394_Hmetabolite measurement QTL GWAS1586394 (human)3e-10metabolite measurement8144504947144504948Human
597597907GWAS1654767_Hserum alanine aminotransferase measurement QTL GWAS1654767 (human)1e-323serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506797144506798Human
597583760GWAS1640620_Hmean corpuscular hemoglobin concentration QTL GWAS1640620 (human)1e-29mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)8144504344144504345Human
597223816GWAS1319890_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1319890 (human)9e-114aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)8144504410144504411Human
597254472GWAS1350546_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1350546 (human)1e-13aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)8144504635144504636Human
597222862GWAS1318936_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1318936 (human)6e-629aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)8144506797144506798Human
597251715GWAS1347789_Hserum alanine aminotransferase measurement QTL GWAS1347789 (human)4e-77serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144504410144504411Human
597119095GWAS1215169_Hserum alanine aminotransferase measurement QTL GWAS1215169 (human)2e-10serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144505869144505870Human
597119094GWAS1215168_Hserum alanine aminotransferase measurement QTL GWAS1215168 (human)6e-18serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144505392144505393Human
597119093GWAS1215167_Hserum alanine aminotransferase measurement QTL GWAS1215167 (human)2e-13serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144505334144505335Human
597583677GWAS1640537_Hmean corpuscular hemoglobin concentration QTL GWAS1640537 (human)4e-22mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)8144503352144503353Human
597119092GWAS1215166_Hserum alanine aminotransferase measurement QTL GWAS1215166 (human)9e-16serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144504868144504869Human
597119091GWAS1215165_Hserum alanine aminotransferase measurement QTL GWAS1215165 (human)1e-25serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144504860144504861Human
597119090GWAS1215164_Hserum alanine aminotransferase measurement QTL GWAS1215164 (human)1e-62serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144504778144504779Human
597301567GWAS1397641_Hserum alanine aminotransferase measurement QTL GWAS1397641 (human)7e-61serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506731144506732Human
597119089GWAS1215163_Hserum alanine aminotransferase measurement QTL GWAS1215163 (human)1e-45serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144504688144504689Human
597301436GWAS1397510_Hserum alanine aminotransferase measurement QTL GWAS1397510 (human)8e-61serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506797144506798Human
597119088GWAS1215162_Hserum alanine aminotransferase measurement QTL GWAS1215162 (human)4e-78serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144504634144504635Human
597119100GWAS1215174_Hserum alanine aminotransferase measurement QTL GWAS1215174 (human)1e-49serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506842144506843Human
597119099GWAS1215173_Hserum alanine aminotransferase measurement QTL GWAS1215173 (human)1e-65serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506768144506769Human
597024568GWAS1120642_Hglucagon-like peptide-1 measurement, glucose tolerance test QTL GWAS1120642 (human)0.000009glucagon-like peptide-1 measurement, glucose tolerance testblood glucagon-like peptide 1 level (CMO:0003637)8144504336144504337Human
597167093GWAS1263167_Hserum alanine aminotransferase measurement QTL GWAS1263167 (human)1e-437serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506731144506732Human
597119098GWAS1215172_Hserum alanine aminotransferase measurement QTL GWAS1215172 (human)3e-507serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506731144506732Human
597119097GWAS1215171_Hserum alanine aminotransferase measurement QTL GWAS1215171 (human)7e-19serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506651144506652Human
597119096GWAS1215170_Hserum alanine aminotransferase measurement QTL GWAS1215170 (human)2e-23serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144505993144505994Human
597301429GWAS1397503_Hserum alanine aminotransferase measurement QTL GWAS1397503 (human)2e-40serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144507115144507116Human
597227374GWAS1323448_Hserum alanine aminotransferase measurement QTL GWAS1323448 (human)2e-09serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144505033144505034Human
597119087GWAS1215161_Hserum alanine aminotransferase measurement QTL GWAS1215161 (human)7e-104serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144504617144504618Human
597119086GWAS1215160_Hserum alanine aminotransferase measurement QTL GWAS1215160 (human)4e-10serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144504438144504439Human
597248288GWAS1344362_Hserum alanine aminotransferase measurement QTL GWAS1344362 (human)9e-428serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144506797144506798Human
597248869GWAS1344943_Hserum alanine aminotransferase measurement QTL GWAS1344943 (human)1e-09serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)8144504635144504636Human

Markers in Region
D11S1356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,915,948 - 117,917,320UniSTSGRCh37
GRCh3711117,915,985 - 117,916,099UniSTSGRCh37
GRCh3711117,915,948 - 117,916,142UniSTSGRCh37
Build 3611117,421,158 - 117,421,352RGDNCBI36
Celera11115,073,796 - 115,073,990RGD
Celera11115,073,796 - 115,075,168UniSTS
Celera11115,073,833 - 115,073,947UniSTS
Cytogenetic Map11q23.3-q24UniSTS
HuRef11113,849,592 - 113,849,786UniSTS
HuRef11113,849,592 - 113,850,964UniSTS
HuRef11113,849,629 - 113,849,743UniSTS
Marshfield Genetic Map11113.4UniSTS
Marshfield Genetic Map11113.4RGD
Genethon Genetic Map11118.6UniSTS
TNG Radiation Hybrid Map1154476.0UniSTS
deCODE Assembly Map11120.33UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
Whitehead-RH Map11524.7UniSTS
Whitehead-YAC Contig Map11 UniSTS
RH80745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,732,413 - 145,732,544UniSTSGRCh37
Build 368145,703,221 - 145,703,352RGDNCBI36
Celera8141,907,885 - 141,908,016RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,845,567 - 140,845,698UniSTS
GeneMap99-GB4 RH Map8565.53UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2250 4966 1726 2349 6 624 1841 465 2264 7199 6364 52 3732 1 852 1741 1615 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI283141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP275218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006992 (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
  D10355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF444981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB901540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC958949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U70732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000354769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,504,140 - 144,504,936 (+)Ensembl
Ensembl Acc Id: ENST00000394955   ⟹   ENSP00000378408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,504,140 - 144,507,172 (+)Ensembl
Ensembl Acc Id: ENST00000527165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,503,737 - 144,506,405 (+)Ensembl
Ensembl Acc Id: ENST00000527961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,504,221 - 144,505,139 (+)Ensembl
Ensembl Acc Id: ENST00000528431   ⟹   ENSP00000433586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,502,973 - 144,507,174 (+)Ensembl
Ensembl Acc Id: ENST00000531330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,504,140 - 144,504,836 (+)Ensembl
Ensembl Acc Id: ENST00000534702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,504,140 - 144,506,125 (+)Ensembl
RefSeq Acc Id: NM_001382664   ⟹   NP_001369593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,503,068 - 144,507,172 (+)NCBI
T2T-CHM13v2.08145,672,833 - 145,676,937 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382665   ⟹   NP_001369594
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,503,068 - 144,507,172 (+)NCBI
T2T-CHM13v2.08145,672,833 - 145,676,937 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005309   ⟹   NP_005300
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,504,140 - 144,507,172 (+)NCBI
GRCh378145,729,465 - 145,732,555 (+)ENTREZGENE
Build 368145,700,231 - 145,703,357 (+)NCBI Archive
HuRef8140,842,619 - 140,845,709 (+)ENTREZGENE
CHM1_18145,767,740 - 145,770,746 (+)NCBI
T2T-CHM13v2.08145,673,905 - 145,676,937 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168476
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,504,140 - 144,507,172 (+)NCBI
T2T-CHM13v2.08145,673,905 - 145,676,937 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168477
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,504,140 - 144,507,172 (+)NCBI
T2T-CHM13v2.08145,673,905 - 145,676,937 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005300   ⟸   NM_005309
- UniProtKB: P78398 (UniProtKB/Swiss-Prot),   D3DWM7 (UniProtKB/Swiss-Prot),   B0YJ18 (UniProtKB/Swiss-Prot),   Q93076 (UniProtKB/Swiss-Prot),   P24298 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001369594   ⟸   NM_001382665
- UniProtKB: P78398 (UniProtKB/Swiss-Prot),   P24298 (UniProtKB/Swiss-Prot),   D3DWM7 (UniProtKB/Swiss-Prot),   B0YJ18 (UniProtKB/Swiss-Prot),   Q93076 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001369593   ⟸   NM_001382664
- UniProtKB: P78398 (UniProtKB/Swiss-Prot),   P24298 (UniProtKB/Swiss-Prot),   D3DWM7 (UniProtKB/Swiss-Prot),   B0YJ18 (UniProtKB/Swiss-Prot),   Q93076 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000378408   ⟸   ENST00000394955
Ensembl Acc Id: ENSP00000433586   ⟸   ENST00000528431

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P24298-F1-model_v2 AlphaFold P24298 1-496 view protein structure

Promoters
RGD ID:7214489
Promoter ID:EPDNEW_H12991
Type:multiple initiation site
Name:GPT_2
Description:glutamic--pyruvic transaminase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12992  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,502,975 - 144,503,035EPDNEW
RGD ID:7214491
Promoter ID:EPDNEW_H12992
Type:multiple initiation site
Name:GPT_1
Description:glutamic--pyruvic transaminase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12991  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,504,141 - 144,504,201EPDNEW
RGD ID:6806670
Promoter ID:HG_KWN:62358
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000354769
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,699,791 - 145,700,647 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4552 AgrOrtholog
COSMIC GPT COSMIC
Ensembl Genes ENSG00000167701 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000394955 ENTREZGENE
  ENST00000394955.3 UniProtKB/Swiss-Prot
  ENST00000528431 ENTREZGENE
  ENST00000528431.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.1970 UniProtKB/Swiss-Prot
  3.40.640.10 UniProtKB/Swiss-Prot
  3.90.1150.10 UniProtKB/Swiss-Prot
GTEx ENSG00000167701 GTEx
HGNC ID HGNC:4552 ENTREZGENE
Human Proteome Map GPT Human Proteome Map
InterPro ALAT1/2-like UniProtKB/Swiss-Prot
  Aminotransferase_I/II UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot
KEGG Report hsa:2875 UniProtKB/Swiss-Prot
NCBI Gene 2875 ENTREZGENE
OMIM 138200 OMIM
PANTHER ALANINE AMINOTRANSFERASE 1 UniProtKB/Swiss-Prot
  PTHR11751 UniProtKB/Swiss-Prot
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot
PharmGKB GPT RGD, PharmGKB
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot
UniProt ALAT1_HUMAN UniProtKB/Swiss-Prot
  B0YJ18 ENTREZGENE
  D3DWM7 ENTREZGENE
  P24298 ENTREZGENE
  P78398 ENTREZGENE
  Q93076 ENTREZGENE
UniProt Secondary B0YJ18 UniProtKB/Swiss-Prot
  D3DWM7 UniProtKB/Swiss-Prot
  P78398 UniProtKB/Swiss-Prot
  Q93076 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 GPT  glutamic--pyruvic transaminase    glutamic-pyruvate transaminase (alanine aminotransferase)  Symbol and/or name change 5135510 APPROVED