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

Basic Information

Gene ID

2810

Name

SFN

Synonymous

stratifin;SFN;stratifin

Definition

14-3-3 protein sigma|14-3-3 sigma|epithelial cell marker protein 1

Position

1p36.11

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

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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 0.07.

The copy number variations for various cancers

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There is no record for SFN

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.34C>T; p.L12L; 1:26863246-26863246

 breastcarcinomaSubstitution - coding silent

c.334G>T; p.G112W; 1:26863546-26863546

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.176G>A; p.W59*; 1:26863388-26863388

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.52C>T; p.R18C; 1:26863264-26863264

 livercarcinomaSubstitution - Missense

c.732G>A; p.Q244Q; 1:26863944-26863944

 skinmalignant_melanomaSubstitution - coding silent

c.93G>C; p.E31D; 1:26863305-26863305

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.610G>A; p.D204N; 1:26863822-26863822

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.733G>A; p.E245K; 1:26863945-26863945

 skinmalignant_melanomaSubstitution - Missense

c.562G>C; p.E188Q; 1:26863774-26863774

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.369G>T; p.M123I; 1:26863581-26863581

 breastcarcinomaSubstitution - Missense

c.238G>C; p.E80Q; 1:26863450-26863450

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.212A>G; p.E71G; 1:26863424-26863424

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.488C>T; p.P163L; 1:26863700-26863700

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.376G>A; p.D126N; 1:26863588-26863588

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.147G>C; p.K49N; 1:26863359-26863359

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.36G>A; p.L12L; 1:26863248-26863248

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - coding silent

c.114C>T; p.C38C; 1:26863326-26863326

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.114C>T; p.C38C; 1:26863326-26863326

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - coding silent

c.294C>G; p.T98T; 1:26863506-26863506

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.289G>A; p.D97N; 1:26863501-26863501

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.96G>T; p.K32N; 1:26863308-26863308

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.579G>A; p.L193L; 1:26863791-26863791

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.251A>G; p.Y84C; 1:26863463-26863463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.228G>A; p.E76E; 1:26863440-26863440

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.228G>A; p.E76E; 1:26863440-26863440

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.108C>G; p.L36L; 1:26863320-26863320

 pancreascarcinomaSubstitution - coding silent

c.415_417delGAC; p.D139delD; 1:26863627-26863629

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.24G>A; p.Q8Q; 1:26863236-26863236

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.12C>A; p.A4A; 1:26863224-26863224

 livercarcinomaSubstitution - coding silent

c.477G>A; p.K159K; 1:26863689-26863689

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.221C>T; p.S74L; 1:26863433-26863433

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.412_414delGAC; p.D139delD; 1:26863624-26863626

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.337G>A; p.D113N; 1:26863549-26863549

 skinmalignant_melanomaSubstitution - Missense

c.131T>A; p.L44H; 1:26863343-26863343

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.515T>A; p.L172Q; 1:26863727-26863727

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.397G>A; p.E133K; 1:26863609-26863609

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.732G>T; p.Q244H; 1:26863944-26863944

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.664C>A; p.L222M; 1:26863876-26863876

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IVSubstitution - Missense

c.18G>T; p.L6L; 1:26863230-26863230

 breastcarcinomaSubstitution - coding silent

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