| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 2688 |
Name | GH1 |
Synonymous | growth hormone 1;GH1;growth hormone 1 |
Definition | pituitary growth hormone|somatotropin |
Position | 17q24.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.457-1G>A; p.?; 17:63917507-63917507 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.345C>A; p.P115P; 17:63917871-63917871 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.99C>T; p.S33S; 17:63918418-63918418 |
skin | malignant_melanoma | Substitution - coding silent |
c.222C>T; p.P74P; 17:63918086-63918086 |
skin | malignant_melanoma | Substitution - coding silent |
c.282A>C; p.Q94H; 17:63918026-63918026 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193G>A; p.E65K; 17:63918115-63918115 |
skin | malignant_melanoma | Substitution - Missense |
c.115G>C; p.A39P; 17:63918402-63918402 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.244G>A; p.E82K; 17:63918064-63918064 |
skin | malignant_melanoma | Substitution - Missense |
c.279A>G; p.T93T; 17:63918029-63918029 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.539A>G; p.D180G; 17:63917424-63917424 |
pancreas | carcinoma | Substitution - Missense |
c.154G>T; p.D52Y; 17:63918363-63918363 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.615C>G; p.I205M; 17:63917348-63917348 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.186C>T; p.I62I; 17:63918122-63918122 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.186C>T; p.I62I; 17:63918122-63918122 |
skin | malignant_melanoma | Substitution - coding silent |
c.269G>T; p.R90M; 17:63918039-63918039 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.116C>T; p.A39V; 17:63918401-63918401 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.291C>A; p.S97S; 17:63918017-63918017 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.286A>G; p.K96E; 17:63918022-63918022 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.516C>T; p.F172F; 17:63917447-63917447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.541G>T; p.A181S; 17:63917422-63917422 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.270G>A; p.R90R; 17:63918038-63918038 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.127G>A; p.A43T; 17:63918390-63918390 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.89T>C; p.I30T; 17:63918428-63918428 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.387C>T; p.Y129Y; 17:63917829-63917829 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.91C>T; p.P31S; 17:63918426-63918426 |
skin | malignant_melanoma | Substitution - Missense |
c.642C>T; p.S214S; 17:63917321-63917321 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.67G>A; p.E23K; 17:63918450-63918450 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.172-1G>A; p.?; 17:63918137-63918137 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.610C>T; p.R204C; 17:63917353-63917353 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.307C>T; p.R103C; 17:63917909-63917909 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.55C>T; p.P19S; 17:63918462-63918462 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.615C>T; p.I205I; 17:63917348-63917348 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.588G>A; p.M196I; 17:63917375-63917375 |
thyroid | other; neoplasm | Substitution - Missense |
c.541G>A; p.A181T; 17:63917422-63917422 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.541G>A; p.A181T; 17:63917422-63917422 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.514T>C; p.F172L; 17:63917449-63917449 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.391G>A; p.A131T; 17:63917825-63917825 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517G>A; p.D173N; 17:63917446-63917446 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.148G>A; p.A50T; 17:63918369-63918369 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.369C>T; p.F123F; 17:63917847-63917847 |
skin | malignant_melanoma | Substitution - coding silent |
c.558C>T; p.Y186Y; 17:63917405-63917405 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.527C>A; p.S176*; 17:63917436-63917436 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.408C>A; p.V136V; 17:63917808-63917808 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.335G>A; p.W112*; 17:63917881-63917881 |
liver | carcinoma | Substitution - Nonsense |
c.335G>A; p.W112*; 17:63917881-63917881 |
liver | carcinoma | Substitution - Nonsense |
c.357C>T; p.L119L; 17:63917859-63917859 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.540C>T; p.D180D; 17:63917423-63917423 |
breast | carcinoma | Substitution - coding silent |
c.540C>T; p.D180D; 17:63917423-63917423 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.223C>G; p.Q75E; 17:63918085-63918085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.308G>A; p.R103H; 17:63917908-63917908 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.17G>A; p.R6Q; 17:63918500-63918500 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.254C>T; p.P85L; 17:63918054-63918054 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.130C>A; p.H44N; 17:63918387-63918387 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.186_187CC>TA; p.I62>?; 17:63918121-63918122 |
lung | carcinoma; adenocarcinoma | Complex |
c.579G>A; p.R193R; 17:63917384-63917384 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.633G>A; p.V211V; 17:63917330-63917330 |
skin | malignant_melanoma | Substitution - coding silent |
c.115G>A; p.A39T; 17:63918402-63918402 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.115G>A; p.A39T; 17:63918402-63918402 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.597C>T; p.V199V; 17:63917366-63917366 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.616G>A; p.V206M; 17:63917347-63917347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.424G>A; p.D142N; 17:63917792-63917792 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.62T>A; p.L21H; 17:63918455-63918455 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.396T>G; p.S132S; 17:63917820-63917820 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.515T>G; p.F172C; 17:63917448-63917448 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.393C>T; p.A131A; 17:63917823-63917823 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.126C>T; p.R42R; 17:63918391-63918391 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.333G>A; p.S111S; 17:63917883-63917883 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.333G>A; p.S111S; 17:63917883-63917883 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.126C>T; p.R42R; 17:63918391-63918391 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.198G>A; p.Q66Q; 17:63918110-63918110 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.496A>G; p.K166E; 17:63917467-63917467 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |