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

Basic Information

Gene ID

6498

Name

SKIL

Synonymous

SKI-like proto-oncogene;SKIL;SKI-like proto-oncogene

Definition

SKI-like oncogene|ski-like protein|ski-related oncogene snoN

Position

3q26

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 0.09.

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.484G>A; p.E162K; 3:170360815-170360815

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1589T>C; p.I530T; 3:170390382-170390382

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1586A>C; p.K529T; 3:170390379-170390379

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.464C>T; p.S155F; 3:170360795-170360795

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.464C>T; p.S155F; 3:170360795-170360795

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1600G>A; p.V534I; 3:170390393-170390393

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1820T>A; p.L607*; 3:170391184-170391184

 skinmalignant_melanomaSubstitution - Nonsense

c.641A>G; p.N214S; 3:170360972-170360972

 breastcarcinomaSubstitution - Missense

c.1976A>T; p.E659V; 3:170392338-170392338

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1976A>T; p.E659V; 3:170392338-170392338

 livercarcinomaSubstitution - Missense

c.88delA; p.M32fs*1; 3:170360419-170360419

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.942A>T; p.R314S; 3:170361273-170361273

 prostateadenomaSubstitution - Missense

c.776G>A; p.G259D; 3:170361107-170361107

 skinmalignant_melanomaSubstitution - Missense

c.989A>T; p.H330L; 3:170361320-170361320

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.252C>T; p.P84P; 3:170360583-170360583

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1219A>G; p.K407E; 3:170384555-170384555

 breastcarcinomaSubstitution - Missense

c.920C>G; p.S307C; 3:170361251-170361251

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1525G>A; p.V509I; 3:170390318-170390318

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1044A>T; p.L348F; 3:170361375-170361375

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.427G>T; p.E143*; 3:170360758-170360758

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1233A>G; p.P411P; 3:170384569-170384569

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.303G>A; p.L101L; 3:170360634-170360634

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.286A>G; p.S96G; 3:170360617-170360617

 skinmalignant_melanomaSubstitution - Missense

c.1127A>T; p.Q376L; 3:170381272-170381272

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1590C>T; p.I530I; 3:170390383-170390383

 skinmalignant_melanomaSubstitution - coding silent

c.364C>A; p.L122M; 3:170360695-170360695

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1136A>G; p.Y379C; 3:170381281-170381281

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.214A>T; p.T72S; 3:170360545-170360545

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.805C>G; p.L269V; 3:170361136-170361136

 breastcarcinomaSubstitution - Missense

c.1507A>G; p.K503E; 3:170390300-170390300

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2055G>T; p.*685Y; 3:170392417-170392417

 endometriumcarcinoma; endometrioid_carcinomaNonstop extension

c.932C>A; p.P311H; 3:170361263-170361263

 oesophaguscarcinomaSubstitution - Missense

c.310C>G; p.P104A; 3:170360641-170360641

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.968C>T; p.A323V; 3:170361299-170361299

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.690T>C; p.C230C; 3:170361021-170361021

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.137T>C; p.V46A; 3:170360468-170360468

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1998G>A; p.M666I; 3:170392360-170392360

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.102G>A; p.T34T; 3:170360433-170360433

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.861G>C; p.P287P; 3:170361192-170361192

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1902A>G; p.A634A; 3:170392264-170392264

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1800G>C; p.Q600H; 3:170391164-170391164

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1902A>G; p.A634A; 3:170392264-170392264

 large_intestine; rectumNSSubstitution - coding silent

c.772A>G; p.T258A; 3:170361103-170361103

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.772A>G; p.T258A; 3:170361103-170361103

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.772A>G; p.T258A; 3:170361103-170361103

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.876G>T; p.L292L; 3:170361207-170361207

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1846A>G; p.T616A; 3:170391210-170391210

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.772A>G; p.T258A; 3:170361103-170361103

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1366G>A; p.V456I; 3:170384702-170384702

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.772A>G; p.T258A; 3:170361103-170361103

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1846A>G; p.T616A; 3:170391210-170391210

 stomachadenocarcinomaSubstitution - Missense

c.336C>T; p.S112S; 3:170360667-170360667

 skinmalignant_melanomaSubstitution - coding silent

c.1087A>G; p.N363D; 3:170361418-170361418

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1095C>A; p.S365S; 3:170361426-170361426

 skinmalignant_melanomaSubstitution - coding silent

c.1163A>G; p.H388R; 3:170381308-170381308

 stomachadenocarcinomaSubstitution - Missense

c.1026G>T; p.K342N; 3:170361357-170361357

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.486A>C; p.E162D; 3:170360817-170360817

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1901C>T; p.A634V; 3:170392263-170392263

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.258G>A; p.L86L; 3:170360589-170360589

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.300G>T; p.S100S; 3:170360631-170360631

 thyroidcarcinomaSubstitution - coding silent

c.1726C>T; p.Q576*; 3:170391090-170391090

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.777C>T; p.G259G; 3:170361108-170361108

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.777C>T; p.G259G; 3:170361108-170361108

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.777C>T; p.G259G; 3:170361108-170361108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1856C>G; p.S619*; 3:170391220-170391220

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1558G>T; p.D520Y; 3:170390351-170390351

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1962C>G; p.L654L; 3:170392324-170392324

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1543C>T; p.P515S; 3:170390336-170390336

 skinmalignant_melanomaSubstitution - Missense

c.866T>A; p.I289N; 3:170361197-170361197

 skinmalignant_melanomaSubstitution - Missense

c.1181C>G; p.S394*; 3:170381326-170381326

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1607G>T; p.R536I; 3:170390400-170390400

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.913A>T; p.M305L; 3:170361244-170361244

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.274C>G; p.Q92E; 3:170360605-170360605

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1237G>A; p.V413M; 3:170384573-170384573

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.794A>T; p.E265V; 3:170361125-170361125

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.774T>C; p.T258T; 3:170361105-170361105

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.287G>T; p.S96I; 3:170360618-170360618

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.646C>A; p.P216T; 3:170360977-170360977

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1289C>T; p.A430V; 3:170384625-170384625

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1348_1349delAC; p.T450fs*9; 3:170384684-170384685

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1438A>C; p.I480L; 3:170390231-170390231

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.419G>T; p.S140I; 3:170360750-170360750

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1804G>T; p.D602Y; 3:170391168-170391168

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.861G>T; p.P287P; 3:170361192-170361192

 breastcarcinomaSubstitution - coding silent

c.1728G>C; p.Q576H; 3:170391092-170391092

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1588A>T; p.I530F; 3:170390381-170390381

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.110A>C; p.H37P; 3:170360441-170360441

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1850G>A; p.C617Y; 3:170391214-170391214

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1711C>T; p.L571F; 3:170391075-170391075

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.212G>A; p.R71Q; 3:170360543-170360543

 livercarcinomaSubstitution - Missense

c.212G>A; p.R71Q; 3:170360543-170360543

 livercarcinomaSubstitution - Missense

c.1611T>C; p.T537T; 3:170390404-170390404

 skinmalignant_melanomaSubstitution - coding silent

c.651C>T; p.S217S; 3:170360982-170360982

 skinmalignant_melanomaSubstitution - coding silent

c.515A>G; p.N172S; 3:170360846-170360846

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.515A>G; p.N172S; 3:170360846-170360846

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.251C>T; p.P84L; 3:170360582-170360582

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1477G>A; p.A493T; 3:170390270-170390270

 skinmalignant_melanomaSubstitution - Missense

c.2014A>C; p.K672Q; 3:170392376-170392376

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.983A>G; p.Y328C; 3:170361314-170361314

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1960C>T; p.L654F; 3:170392322-170392322

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.710G>A; p.R237Q; 3:170361041-170361041

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.710G>A; p.R237Q; 3:170361041-170361041

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1563C>T; p.V521V; 3:170390356-170390356

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.926G>T; p.R309I; 3:170361257-170361257

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.382C>G; p.Q128E; 3:170360713-170360713

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1839A>G; p.Q613Q; 3:170391203-170391203

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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