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

Basic Information

Gene ID

23541

Name

SEC14L2

Synonymous

SEC14-like 2 (S. cerevisiae);SEC14L2;SEC14-like 2 (S. cerevisiae)

Definition

SEC14-like protein 2|alpha-tocopherol-associated protein|squalene transfer protein|supernatant protein factor|tocopherol-associated protein

Position

22q12.2

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.87C>T; p.A29A; 22:30399675-30399675

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.612C>G; p.L204L; 22:30410627-30410627

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.910A>T; p.R304W; 22:30416086-30416086

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1144G>T; p.E382*; 22:30422339-30422339

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1206G>A; p.P402P; 22:30422401-30422401

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1206G>A; p.P402P; 22:30422401-30422401

 breastcarcinomaSubstitution - coding silent

c.1089G>C; p.L363L; 22:30422284-30422284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.368C>T; p.T123I; 22:30407548-30407548

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.368C>T; p.T123I; 22:30407548-30407548

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.633G>A; p.E211E; 22:30410648-30410648

 skinmalignant_melanomaSubstitution - coding silent

c.985C>T; p.R329W; 22:30416307-30416307

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.339C>G; p.F113L; 22:30407519-30407519

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.533T>A; p.F178Y; 22:30409439-30409439

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.843C>T; p.S281S; 22:30416019-30416019

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.843C>T; p.S281S; 22:30416019-30416019

 thyroidcarcinomaSubstitution - coding silent

c.843C>T; p.S281S; 22:30416019-30416019

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.781G>A; p.G261R; 22:30415957-30415957

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1208A>G; p.K403R; 22:30422403-30422403

 skinmalignant_melanomaSubstitution - Missense

c.895C>T; p.P299S; 22:30416071-30416071

 skinmalignant_melanomaSubstitution - Missense

c.1156C>G; p.P386A; 22:30422351-30422351

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.562C>T; p.R188C; 22:30409468-30409468

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.878A>G; p.E293G; 22:30416054-30416054

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.550G>T; p.E184*; 22:30409456-30409456

 livercarcinomaSubstitution - Nonsense

c.1073C>A; p.P358H; 22:30416395-30416395

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.838C>A; p.H280N; 22:30416014-30416014

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.838C>A; p.H280N; 22:30416014-30416014

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.620_623delCCTT; p.F208fs*1; 22:30410635-30410638

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.675G>A; p.K225K; 22:30415769-30415769

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.126C>T; p.L42L; 22:30399714-30399714

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.119G>A; p.R40H; 22:30399707-30399707

 stomachadenocarcinomaSubstitution - Missense

c.1018C>T; p.Q340*; 22:30416340-30416340

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.19G>A; p.D7N; 22:30397135-30397135

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1205C>G; p.P402R; 22:30422400-30422400

 livercarcinomaSubstitution - Missense

c.1205C>G; p.P402R; 22:30422400-30422400

 livercarcinomaSubstitution - Missense

c.300C>T; p.Y100Y; 22:30407480-30407480

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.976G>A; p.E326K; 22:30416298-30416298

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.86C>T; p.A29V; 22:30399674-30399674

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.519+1G>T; p.?; 22:30409283-30409283

 pancreascarcinomaUnknown

c.155C>T; p.S52L; 22:30406366-30406366

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1182G>A; p.M394I; 22:30422377-30422377

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.724delG; p.G243fs*3; 22:30415818-30415818

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.32G>A; p.R11K; 22:30397148-30397148

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.232G>C; p.E78Q; 22:30407152-30407152

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.32G>A; p.R11K; 22:30397148-30397148

 thyroidother; neoplasmSubstitution - Missense

c.603C>A; p.A201A; 22:30410618-30410618

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.301G>A; p.D101N; 22:30407481-30407481

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.565C>G; p.L189V; 22:30409471-30409471

 oesophaguscarcinomaSubstitution - Missense

c.88C>T; p.L30L; 22:30399676-30399676

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.551A>T; p.E184V; 22:30409457-30409457

 livercarcinomaSubstitution - Missense

c.523C>A; p.L175I; 22:30409429-30409429

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1039G>A; p.V347I; 22:30416361-30416361

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595C>A; p.P199T; 22:30410610-30410610

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.771+9C>T; p.?; 22:30415874-30415874

 pancreascarcinomaUnknown

c.969G>A; p.K323K; 22:30416291-30416291

 skinmalignant_melanomaSubstitution - coding silent

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