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

Basic Information

Gene ID

84260

Name

TCHP

Synonymous

trichoplein, keratin filament binding;TCHP;trichoplein, keratin filament binding

Definition

mitochondrial protein with oncostatic activity|mitostatin|trichoplein keratin filament-binding protein|tumor suppressor protein

Position

12q24.11

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

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.18.

The copy number variations for various cancers

Top

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.560A>T; p.Y187F; 12:109907560-109907560

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.512A>C; p.E171A; 12:109906627-109906627

 livercarcinomaSubstitution - Missense

c.167C>T; p.S56F; 12:109903193-109903193

 breastcarcinomaSubstitution - Missense

c.21G>A; p.P7P; 12:109903047-109903047

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.756G>A; p.E252E; 12:109908642-109908642

 breastcarcinomaSubstitution - coding silent

c.1412C>G; p.A471G; 12:109915494-109915494

 thyroidcarcinomaSubstitution - Missense

c.594G>A; p.A198A; 12:109907594-109907594

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.452G>T; p.R151L; 12:109904789-109904789

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1184G>A; p.R395Q; 12:109914491-109914491

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1197G>T; p.E399D; 12:109914504-109914504

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.537C>T; p.T179T; 12:109907537-109907537

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.515delA; p.K174fs*26; 12:109906630-109906630

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.837C>T; p.N279N; 12:109908895-109908895

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.515delA; p.K174fs*26; 12:109906630-109906630

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.515delA; p.K174fs*26; 12:109906630-109906630

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.515delA; p.K174fs*26; 12:109906630-109906630

 stomachadenocarcinomaDeletion - Frameshift

c.515delA; p.K174fs*26; 12:109906630-109906630

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.515delA; p.K174fs*26; 12:109906630-109906630

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.22T>C; p.S8P; 12:109903048-109903048

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1353A>T; p.A451A; 12:109915435-109915435

 breastcarcinomaSubstitution - coding silent

c.1024C>T; p.R342W; 12:109911207-109911207

 livercarcinomaSubstitution - Missense

c.1024C>T; p.R342W; 12:109911207-109911207

 livercarcinomaSubstitution - Missense

c.104A>G; p.E35G; 12:109903130-109903130

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.6G>A; p.A2A; 12:109903032-109903032

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.37C>T; p.Q13*; 12:109903063-109903063

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.366G>T; p.K122N; 12:109904114-109904114

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.366G>T; p.K122N; 12:109904114-109904114

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1183C>T; p.R395*; 12:109914490-109914490

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.824G>A; p.R275K; 12:109908882-109908882

 skin; armmalignant_melanomaSubstitution - Missense

c.543G>T; p.E181D; 12:109907543-109907543

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1364A>C; p.E455A; 12:109915446-109915446

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.880-1G>A; p.?; 12:109911062-109911062

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.345A>T; p.R115S; 12:109904093-109904093

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.580G>A; p.A194T; 12:109907580-109907580

 pancreascarcinomaSubstitution - Missense

c.1228C>T; p.R410*; 12:109914535-109914535

 livercarcinomaSubstitution - Nonsense

c.1228C>T; p.R410*; 12:109914535-109914535

 livercarcinomaSubstitution - Nonsense

c.854G>A; p.R285H; 12:109908912-109908912

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.92G>A; p.R31Q; 12:109903118-109903118

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1399C>T; p.Q467*; 12:109915481-109915481

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Nonsense

c.538G>T; p.A180S; 12:109907538-109907538

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1330C>T; p.R444C; 12:109915412-109915412

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.613G>T; p.E205*; 12:109907613-109907613

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.352G>A; p.E118K; 12:109904100-109904100

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1304A>C; p.Q435P; 12:109914611-109914611

 breastcarcinomaSubstitution - Missense

c.49A>C; p.N17H; 12:109903075-109903075

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1249G>A; p.E417K; 12:109914556-109914556

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.403G>T; p.A135S; 12:109904740-109904740

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1229G>A; p.R410Q; 12:109914536-109914536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1229G>A; p.R410Q; 12:109914536-109914536

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.584G>A; p.R195Q; 12:109907584-109907584

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.176C>T; p.S59F; 12:109903202-109903202

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1205T>C; p.L402P; 12:109914512-109914512

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.925G>A; p.E309K; 12:109911108-109911108

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.274C>T; p.Q92*; 12:109904022-109904022

 skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.122T>A; p.F41Y; 12:109903148-109903148

 ovaryother; neoplasmSubstitution - Missense

c.592G>A; p.A198T; 12:109907592-109907592

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1111G>A; p.A371T; 12:109913049-109913049

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1111G>A; p.A371T; 12:109913049-109913049

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1111G>A; p.A371T; 12:109913049-109913049

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1145G>A; p.G382E; 12:109914452-109914452

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.264G>A; p.R88R; 12:109904012-109904012

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1111G>A; p.A371T; 12:109913049-109913049

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.925G>T; p.E309*; 12:109911108-109911108

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.386A>G; p.E129G; 12:109904134-109904134

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.572A>G; p.Y191C; 12:109907572-109907572

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1237G>A; p.E413K; 12:109914544-109914544

 skinmalignant_melanomaSubstitution - Missense

c.572A>G; p.Y191C; 12:109907572-109907572

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.805G>A; p.E269K; 12:109908691-109908691

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1124T>A; p.L375Q; 12:109913062-109913062

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1113A>G; p.A371A; 12:109913051-109913051

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.315G>C; p.L105L; 12:109904063-109904063

 breastcarcinomaSubstitution - coding silent

c.556C>T; p.R186W; 12:109907556-109907556

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.65G>A; p.R22Q; 12:109903091-109903091

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.65G>A; p.R22Q; 12:109903091-109903091

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.952C>T; p.R318W; 12:109911135-109911135

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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