| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 94031 |
Name | HTRA3 |
Synonymous | HtrA serine peptidase 3;HTRA3;HtrA serine peptidase 3 |
Definition | high-temperature requirement factor A3|pregnancy-related serine protease|probable serine protease HTRA3|serine protease HTRA3 |
Position | 4p16.1 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.09. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.874G>A; p.D292N; 4:8291535-8291535 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.751C>T; p.R251W; 4:8291412-8291412 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.233G>A; p.R78H; 4:8270201-8270201 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1064G>A; p.R355H; 4:8302475-8302475 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.991G>A; p.A331T; 4:8294141-8294141 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.262G>A; p.A88T; 4:8270230-8270230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1324G>A; p.D442N; 4:8306098-8306098 |
skin | malignant_melanoma | Substitution - Missense |
c.785C>T; p.P262L; 4:8291446-8291446 |
skin | malignant_melanoma | Substitution - Missense |
c.152G>T; p.C51F; 4:8270120-8270120 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.925C>T; p.L309L; 4:8292342-8292342 |
breast | carcinoma | Substitution - coding silent |
c.474G>T; p.E158D; 4:8282525-8282525 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1276G>A; p.V426M; 4:8306050-8306050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.745G>A; p.D249N; 4:8291406-8291406 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1236C>A; p.N412K; 4:8306010-8306010 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313G>A; p.R438Q; 4:8306087-8306087 |
prostate | carcinoma | Substitution - Missense |
c.1313G>A; p.R438Q; 4:8306087-8306087 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1120G>A; p.A374T; 4:8304203-8304203 |
skin | malignant_melanoma | Substitution - Missense |
c.1120G>A; p.A374T; 4:8304203-8304203 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1318A>G; p.N440D; 4:8306092-8306092 |
thyroid | other; neoplasm | Substitution - Missense |
c.907G>A; p.G303R; 4:8292324-8292324 |
skin | malignant_melanoma | Substitution - Missense |
c.1146C>T; p.V382V; 4:8304229-8304229 |
kidney | other; neoplasm | Substitution - coding silent |
c.1307T>G; p.V436G; 4:8306081-8306081 |
pancreas | carcinoma | Substitution - Missense |
c.1056G>A; p.W352*; 4:8302467-8302467 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1085G>A; p.R362Q; 4:8302496-8302496 |
skin | malignant_melanoma | Substitution - Missense |
c.1188T>G; p.P396P; 4:8304271-8304271 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.460G>A; p.V154M; 4:8282511-8282511 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1342G>T; p.A448S; 4:8306116-8306116 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1161T>A; p.Y387*; 4:8304244-8304244 |
breast | carcinoma | Substitution - Nonsense |
c.906C>A; p.Y302*; 4:8292323-8292323 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.887C>T; p.T296M; 4:8291548-8291548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.887C>T; p.T296M; 4:8291548-8291548 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1104G>C; p.L368L; 4:8304187-8304187 |
pancreas | carcinoma | Substitution - coding silent |
c.1078C>T; p.R360W; 4:8302489-8302489 |
oesophagus | carcinoma | Substitution - Missense |
c.1094C>T; p.T365I; 4:8302505-8302505 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.639C>T; p.D213D; 4:8286714-8286714 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.836G>A; p.R279Q; 4:8291497-8291497 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1238G>A; p.G413E; 4:8306012-8306012 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.510G>A; p.V170V; 4:8286585-8286585 |
liver | carcinoma | Substitution - coding silent |
c.510G>A; p.V170V; 4:8286585-8286585 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1241G>A; p.R414H; 4:8306015-8306015 |
pancreas | carcinoma | Substitution - Missense |
c.820G>A; p.V274I; 4:8291481-8291481 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.842G>T; p.G281V; 4:8291503-8291503 |
kidney | other; neoplasm | Substitution - Missense |
c.49G>T; p.A17S; 4:8270017-8270017 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.668A>G; p.D223G; 4:8286743-8286743 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.666C>T; p.I222I; 4:8286741-8286741 |
skin | malignant_melanoma | Substitution - coding silent |
c.223G>A; p.E75K; 4:8270191-8270191 |
skin | malignant_melanoma | Substitution - Missense |
c.968A>C; p.K323T; 4:8294118-8294118 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.819C>T; p.I273I; 4:8291480-8291480 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1015C>T; p.R339W; 4:8294165-8294165 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.65C>T; p.A22V; 4:8270033-8270033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1342G>A; p.A448T; 4:8306116-8306116 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.948C>A; p.V316V; 4:8294098-8294098 |
thyroid | other; neoplasm | Substitution - coding silent |
c.675G>T; p.K225N; 4:8286750-8286750 |
pancreas | carcinoma | Substitution - Missense |
c.574G>A; p.V192M; 4:8286649-8286649 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.914_915CC>TT; p.S305F; 4:8292331-8292332 |
skin | malignant_melanoma | Substitution - Missense |
c.1208A>G; p.Q403R; 4:8305982-8305982 |
skin | malignant_melanoma | Substitution - Missense |
c.1208A>G; p.Q403R; 4:8305982-8305982 |
skin | malignant_melanoma | Substitution - Missense |
c.1208A>G; p.Q403R; 4:8305982-8305982 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1208A>G; p.Q403R; 4:8305982-8305982 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1208A>G; p.Q403R; 4:8305982-8305982 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1208A>G; p.Q403R; 4:8305982-8305982 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.842G>A; p.G281D; 4:8291503-8291503 |
skin | malignant_melanoma | Substitution - Missense |
c.483G>A; p.L161L; 4:8282534-8282534 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.483G>A; p.L161L; 4:8282534-8282534 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1088C>T; p.T363M; 4:8302499-8302499 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.503G>A; p.R168H; 4:8286578-8286578 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1323C>T; p.D441D; 4:8306097-8306097 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.992C>T; p.A331V; 4:8294142-8294142 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.586A>C; p.N196H; 4:8286661-8286661 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1285G>A; p.E429K; 4:8306059-8306059 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.634G>A; p.G212R; 4:8286709-8286709 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.410G>A; p.R137H; 4:8282461-8282461 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.777C>T; p.I259I; 4:8291438-8291438 |
skin | malignant_melanoma | Substitution - coding silent |
c.835C>T; p.R279W; 4:8291496-8291496 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype | Substitution - Missense |
c.1311G>A; p.R437R; 4:8306085-8306085 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.835C>T; p.R279W; 4:8291496-8291496 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.1179G>A; p.P393P; 4:8304262-8304262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1179G>A; p.P393P; 4:8304262-8304262 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1312C>T; p.R438W; 4:8306086-8306086 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1179G>A; p.P393P; 4:8304262-8304262 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1212T>C; p.D404D; 4:8305986-8305986 |
liver | carcinoma | Substitution - coding silent |
c.1212T>C; p.D404D; 4:8305986-8305986 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.637G>A; p.D213N; 4:8286712-8286712 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.501C>T; p.G167G; 4:8286576-8286576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.514C>T; p.L172L; 4:8286589-8286589 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1161T>G; p.Y387*; 4:8304244-8304244 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.837G>A; p.R279R; 4:8291498-8291498 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.943G>A; p.E315K; 4:8294093-8294093 |
skin | malignant_melanoma | Substitution - Missense |