Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

7078

Name

TIMP3

Synonymous

TIMP metallopeptidase inhibitor 3;TIMP3;TIMP metallopeptidase inhibitor 3

Definition

MIG-5 protein|TIMP-3|metalloproteinase inhibitor 3|protein MIG-5|tissue inhibitor of metalloproteinases 3

Position

22q12.3

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

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.15.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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.319C>T; p.R107C; 22:32858019-32858019

 skinmalignant_melanomaSubstitution - Missense

c.319C>T; p.R107C; 22:32858019-32858019

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.313A>C; p.T105P; 22:32857357-32857357

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.441C>T; p.I147I; 22:32859182-32859182

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.320G>A; p.R107H; 22:32858020-32858020

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.150G>A; p.K50K; 22:32849480-32849480

 breastcarcinomaSubstitution - coding silent

c.150G>A; p.K50K; 22:32849480-32849480

 breastcarcinomaSubstitution - coding silent

c.516C>T; p.F172F; 22:32859257-32859257

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.516C>T; p.F172F; 22:32859257-32859257

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.249T>C; p.H83H; 22:32857293-32857293

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.260C>T; p.S87F; 22:32857304-32857304

 skinmalignant_melanomaSubstitution - Missense

c.596delC; p.P201fs*>11; 22:32859337-32859337

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.255A>T; p.E85D; 22:32857299-32857299

 skinmalignant_melanomaSubstitution - Missense

c.413G>A; p.R138Q; 22:32858113-32858113

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.596delC; p.P201fs*>11; 22:32859337-32859337

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.167C>T; p.P56L; 22:32849497-32849497

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.257C>A; p.A86D; 22:32857301-32857301

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.211C>T; p.R71*; 22:32857255-32857255

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.247C>T; p.H83Y; 22:32857291-32857291

 skinmalignant_melanomaSubstitution - Missense

c.308T>C; p.L103P; 22:32857352-32857352

 breastcarcinomaSubstitution - Missense

c.253G>A; p.E85K; 22:32857297-32857297

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.151C>A; p.L51M; 22:32849481-32849481

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.153G>A; p.L51L; 22:32849483-32849483

 breastcarcinomaSubstitution - coding silent

c.512A>G; p.N171S; 22:32859253-32859253

 livercarcinomaSubstitution - Missense

c.512A>G; p.N171S; 22:32859253-32859253

 livercarcinomaSubstitution - Missense

c.473C>T; p.T158I; 22:32859214-32859214

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.344C>T; p.T115M; 22:32858044-32858044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.535T>C; p.S179P; 22:32859276-32859276

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.394C>T; p.R132C; 22:32858094-32858094

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.394C>T; p.R132C; 22:32858094-32858094

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.595G>C; p.A199P; 22:32859336-32859336

 pancreascarcinomaSubstitution - Missense

c.595G>C; p.A199P; 22:32859336-32859336

 pancreascarcinomaSubstitution - Missense

c.595G>C; p.A199P; 22:32859336-32859336

 prostateadenomaSubstitution - Missense

c.586C>T; p.R196*; 22:32859327-32859327

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.331G>T; p.G111C; 22:32858031-32858031

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.595_596insC; p.D202fs*2; 22:32859336-32859337

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.595_596insC; p.D202fs*2; 22:32859336-32859337

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.595_596insC; p.D202fs*2; 22:32859336-32859337

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.289G>A; p.V97I; 22:32857333-32857333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.547G>A; p.A183T; 22:32859288-32859288

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.533A>C; p.Q178P; 22:32859274-32859274

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.533A>C; p.Q178P; 22:32859274-32859274

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.421C>A; p.L141M; 22:32858121-32858121

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.504G>A; p.M168I; 22:32859245-32859245

 breastcarcinomaSubstitution - Missense

c.628G>T; p.D210Y; 22:32859369-32859369

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.188C>T; p.T63I; 22:32849518-32849518

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.366G>T; p.E122D; 22:32858066-32858066

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.590G>A; p.G197E; 22:32859331-32859331

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.536C>T; p.S179F; 22:32859277-32859277

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.154G>T; p.V52L; 22:32849484-32849484

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.261C>T; p.S87S; 22:32857305-32857305

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.241T>C; p.Y81H; 22:32857285-32857285

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.557G>A; p.R186Q; 22:32859298-32859298

 pancreascarcinomaSubstitution - Missense

c.150G>C; p.K50N; 22:32849480-32849480

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.251C>T; p.T84M; 22:32857295-32857295

 pancreascarcinomaSubstitution - Missense

c.602C>A; p.P201Q; 22:32859343-32859343

 breastcarcinomaSubstitution - Missense

c.571T>A; p.Y191N; 22:32859312-32859312

 skinmalignant_melanomaSubstitution - Missense

c.517G>A; p.G173S; 22:32859258-32859258

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.345G>A; p.T115T; 22:32858045-32858045

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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