| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 28964 |
Name | GIT1 |
Synonymous | G protein-coupled receptor kinase interacting ArfGAP 1;GIT1;G protein-coupled receptor kinase interacting ArfGAP 1 |
Definition | ARF GAP GIT1|ARF GTPase-activating protein GIT1|CAT-1|CAT1|G protein-coupled receptor kinase interactor 1|G protein-coupled receptor kinase-interactor 1|GRK-interacting protein 1|cool-associated and tyrosine-phosphorylated protein 1 |
Position | 17p11.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.348delT; p.F116fs*72; 17:29582755-29582755 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1641G>A; p.V547V; 17:29576102-29576102 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1035C>T; p.I345I; 17:29577194-29577194 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1122G>T; p.Q374H; 17:29576968-29576968 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2050G>A; p.E684K; 17:29575102-29575102 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2050G>A; p.E684K; 17:29575102-29575102 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1346G>T; p.S449I; 17:29576556-29576556 |
thyroid | other; neoplasm | Substitution - Missense |
c.1745G>A; p.R582H; 17:29575819-29575819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2067C>T; p.F689F; 17:29575085-29575085 |
skin | malignant_melanoma | Substitution - coding silent |
c.1714C>T; p.P572S; 17:29575850-29575850 |
liver | carcinoma | Substitution - Missense |
c.1630A>C; p.I544L; 17:29576113-29576113 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1714C>T; p.P572S; 17:29575850-29575850 |
liver | carcinoma | Substitution - Missense |
c.620C>A; p.A207D; 17:29581930-29581930 |
thyroid | other; neoplasm | Substitution - Missense |
c.336G>C; p.Q112H; 17:29582767-29582767 |
breast | carcinoma | Substitution - Missense |
c.1903C>A; p.L635I; 17:29575394-29575394 |
breast | carcinoma | Substitution - Missense |
c.1663C>T; p.R555W; 17:29576080-29576080 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1562G>C; p.G521A; 17:29576269-29576269 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1562G>C; p.G521A; 17:29576269-29576269 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.855C>T; p.D285D; 17:29578327-29578327 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.284C>T; p.P95L; 17:29582940-29582940 |
skin | malignant_melanoma | Substitution - Missense |
c.2244_2245insC; p.K749fs*>14; 17:29574743-29574744 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.269G>A; p.R90Q; 17:29582955-29582955 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1934T>C; p.V645A; 17:29575363-29575363 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1934T>C; p.V645A; 17:29575363-29575363 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1934T>C; p.V645A; 17:29575363-29575363 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1689A>T; p.S563S; 17:29575875-29575875 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1586C>T; p.T529M; 17:29576245-29576245 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.806A>T; p.Q269L; 17:29578735-29578735 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1464G>A; p.A488A; 17:29576367-29576367 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1287G>A; p.L429L; 17:29576615-29576615 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2142T>C; p.S714S; 17:29574846-29574846 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.318C>T; p.F106F; 17:29582785-29582785 |
skin | malignant_melanoma | Substitution - coding silent |
c.1094A>T; p.D365V; 17:29576996-29576996 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1552C>T; p.P518S; 17:29576279-29576279 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.993G>A; p.K331K; 17:29577236-29577236 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.394G>T; p.D132Y; 17:29582709-29582709 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1859_1860delAA; p.K620fs*49; 17:29575437-29575438 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.932C>T; p.A311V; 17:29577694-29577694 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2150G>A; p.R717Q; 17:29574838-29574838 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1982G>A; p.R661Q; 17:29575315-29575315 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.386C>T; p.T129I; 17:29582717-29582717 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.612T>C; p.I204I; 17:29581938-29581938 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1715C>T; p.P572L; 17:29575849-29575849 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119G>A; p.A707T; 17:29574869-29574869 |
breast | carcinoma | Substitution - Missense |
c.821G>A; p.R274Q; 17:29578361-29578361 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.129C>A; p.R43R; 17:29583540-29583540 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1902C>G; p.D634E; 17:29575395-29575395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.618T>G; p.Y206*; 17:29581932-29581932 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.2103A>G; p.S701S; 17:29574885-29574885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.599G>T; p.G200V; 17:29581951-29581951 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1301C>T; p.A434V; 17:29576601-29576601 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.979C>T; p.Q327*; 17:29577647-29577647 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1956C>G; p.V652V; 17:29575341-29575341 |
liver | carcinoma | Substitution - coding silent |
c.1956C>G; p.V652V; 17:29575341-29575341 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.361C>T; p.P121S; 17:29582742-29582742 |
skin | malignant_melanoma | Substitution - Missense |
c.719-4T>A; p.?; 17:29581384-29581384 |
liver | carcinoma | Unknown |
c.1226G>A; p.R409Q; 17:29576864-29576864 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1226G>A; p.R409Q; 17:29576864-29576864 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.640G>A; p.E214K; 17:29581820-29581820 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.265G>A; p.G89S; 17:29582959-29582959 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.561A>T; p.V187V; 17:29581989-29581989 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1220G>A; p.R407Q; 17:29576870-29576870 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.237C>T; p.S79S; 17:29582987-29582987 |
thyroid | carcinoma | Substitution - coding silent |
c.775G>A; p.E259K; 17:29578766-29578766 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1792T>C; p.Y598H; 17:29575664-29575664 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.877G>T; p.D293Y; 17:29578305-29578305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1885G>T; p.E629*; 17:29575412-29575412 |
central_nervous_system; occipital_lobe | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1981C>T; p.R661W; 17:29575316-29575316 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1511G>A; p.R504H; 17:29576320-29576320 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.380G>A; p.G127E; 17:29582723-29582723 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2165C>A; p.P722Q; 17:29574823-29574823 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2233G>A; p.A745T; 17:29574755-29574755 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.357G>A; p.K119K; 17:29582746-29582746 |
kidney | other; neoplasm | Substitution - coding silent |
c.1822C>G; p.L608V; 17:29575634-29575634 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.493G>A; p.E165K; 17:29582057-29582057 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.403A>T; p.K135*; 17:29582700-29582700 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1381-1G>C; p.?; 17:29576451-29576451 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1627G>A; p.A543T; 17:29576116-29576116 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1856G>A; p.G619D; 17:29575441-29575441 |
central_nervous_system; thalamus | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.850T>C; p.Y284H; 17:29578332-29578332 |
stomach | adenocarcinoma | Substitution - Missense |
c.1981C>A; p.R661R; 17:29575316-29575316 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1183G>T; p.E395*; 17:29576907-29576907 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2286A>G; p.*762W; 17:29574702-29574702 |
stomach | carcinoma; adenocarcinoma | Nonstop extension |
c.933C>T; p.A311A; 17:29577693-29577693 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1510C>T; p.R504C; 17:29576321-29576321 |
skin | malignant_melanoma | Substitution - Missense |
c.1180C>G; p.Q394E; 17:29576910-29576910 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1846C>T; p.L616L; 17:29575451-29575451 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.791C>A; p.A264D; 17:29578750-29578750 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.849G>A; p.V283V; 17:29578333-29578333 |
pancreas | carcinoma | Substitution - coding silent |
c.90G>T; p.V30V; 17:29583579-29583579 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1699T>C; p.F567L; 17:29575865-29575865 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.404A>G; p.K135R; 17:29582699-29582699 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1694T>C; p.V565A; 17:29575870-29575870 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.876T>A; p.N292K; 17:29578306-29578306 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2232C>T; p.I744I; 17:29574756-29574756 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1353C>T; p.S451S; 17:29576549-29576549 |
breast | carcinoma | Substitution - coding silent |
c.1975C>A; p.L659M; 17:29575322-29575322 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1353C>T; p.S451S; 17:29576549-29576549 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1285C>T; p.L429L; 17:29576617-29576617 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |