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

Basic Information

Gene ID

152573

Name

SHISA3

Synonymous

shisa family member 3;SHISA3;shisa family member 3

Definition

protein shisa-3 homolog|shisa homolog 3

Position

4p13

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 0.14.

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.356A>G; p.Y119C; 4:42401090-42401090

 pancreascarcinomaSubstitution - Missense

c.589A>C; p.T197P; 4:42401323-42401323

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.660C>T; p.P220P; 4:42401394-42401394

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.334C>T; p.L112L; 4:42401068-42401068

 skinmalignant_melanomaSubstitution - coding silent

c.474C>T; p.P158P; 4:42401208-42401208

 skinmalignant_melanomaSubstitution - coding silent

c.65A>G; p.Q22R; 4:42398121-42398121

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.397C>T; p.P133S; 4:42401131-42401131

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.390G>A; p.S130S; 4:42401124-42401124

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.441C>T; p.P147P; 4:42401175-42401175

 skinmalignant_melanomaSubstitution - coding silent

c.177C>A; p.S59S; 4:42398233-42398233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.503C>A; p.S168Y; 4:42401237-42401237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.654T>C; p.A218A; 4:42401388-42401388

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.29T>C; p.L10P; 4:42398085-42398085

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.90C>T; p.G30G; 4:42398146-42398146

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.281C>A; p.P94H; 4:42401015-42401015

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.281C>A; p.P94H; 4:42401015-42401015

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.477C>T; p.S159S; 4:42401211-42401211

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.393G>A; p.Q131Q; 4:42401127-42401127

 breastcarcinomaSubstitution - coding silent

c.479G>A; p.R160Q; 4:42401213-42401213

 pancreascarcinomaSubstitution - Missense

c.430G>A; p.E144K; 4:42401164-42401164

 skin; armmalignant_melanomaSubstitution - Missense

c.715T>G; p.*239G; 4:42401449-42401449

 urinary_tract; bladdercarcinomaNonstop extension

c.340T>C; p.S114P; 4:42401074-42401074

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.335T>G; p.L112R; 4:42401069-42401069

 skinmalignant_melanomaSubstitution - Missense

c.382G>A; p.E128K; 4:42401116-42401116

 skinmalignant_melanomaSubstitution - Missense

c.498G>A; p.T166T; 4:42401232-42401232

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.159T>C; p.A53A; 4:42398215-42398215

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.159T>C; p.A53A; 4:42398215-42398215

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.488G>A; p.S163N; 4:42401222-42401222

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.651C>T; p.F217F; 4:42401385-42401385

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.43C>A; p.R15S; 4:42398099-42398099

 livercarcinomaSubstitution - Missense

c.43C>A; p.R15S; 4:42398099-42398099

 livercarcinomaSubstitution - Missense

c.593C>A; p.T198N; 4:42401327-42401327

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.73G>A; p.G25R; 4:42398129-42398129

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.39G>T; p.W13C; 4:42398095-42398095

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.39G>T; p.W13C; 4:42398095-42398095

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.39G>T; p.W13C; 4:42398095-42398095

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.337G>T; p.G113C; 4:42401071-42401071

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.254T>C; p.L85P; 4:42398310-42398310

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.652G>A; p.A218T; 4:42401386-42401386

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.638C>G; p.S213*; 4:42401372-42401372

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.659C>A; p.P220H; 4:42401393-42401393

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.324G>T; p.A108A; 4:42401058-42401058

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.277C>T; p.Q93*; 4:42398333-42398333

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.679C>T; p.L227L; 4:42401413-42401413

 skin; armmalignant_melanomaSubstitution - coding silent

c.478C>G; p.R160G; 4:42401212-42401212

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.651C>A; p.F217L; 4:42401385-42401385

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.396G>C; p.Q132H; 4:42401130-42401130

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.44G>A; p.R15H; 4:42398100-42398100

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.310T>A; p.S104T; 4:42401044-42401044

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.576_577insCCCCCCC; p.Y196fs*>46; 4:42401310-42401311

 meningesmeningiomaInsertion - Frameshift

c.394C>T; p.Q132*; 4:42401128-42401128

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.458C>A; p.T153N; 4:42401192-42401192

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.412C>A; p.L138I; 4:42401146-42401146

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.323C>A; p.A108E; 4:42401057-42401057

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.284T>C; p.V95A; 4:42401018-42401018

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.395A>G; p.Q132R; 4:42401129-42401129

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.685_686GG>AA; p.G229K; 4:42401419-42401420

 skinmalignant_melanomaSubstitution - Missense

c.685_686GG>AA; p.G229K; 4:42401419-42401420

 skinmalignant_melanomaSubstitution - Missense

c.60C>T; p.G20G; 4:42398116-42398116

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.364A>G; p.T122A; 4:42401098-42401098

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.403C>T; p.R135C; 4:42401137-42401137

 skinmalignant_melanomaSubstitution - Missense

c.389C>T; p.S130L; 4:42401123-42401123

 skinmalignant_melanomaSubstitution - Missense

c.298C>A; p.L100I; 4:42401032-42401032

 pancreascarcinomaSubstitution - Missense

c.480G>A; p.R160R; 4:42401214-42401214

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.498G>C; p.T166T; 4:42401232-42401232

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.672G>T; p.E224D; 4:42401406-42401406

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.416G>A; p.R139H; 4:42401150-42401150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.416G>A; p.R139H; 4:42401150-42401150

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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