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

Basic Information

Gene ID

23635

Name

SSBP2

Synonymous

single-stranded DNA binding protein 2;SSBP2;single-stranded DNA binding protein 2

Definition

sequence-specific single-stranded-DNA-binding protein 2|single-stranded DNA-binding protein 2

Position

5q14.1

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.548G>A; p.G183E; 5:81473722-81473722

 skinmalignant_melanomaSubstitution - Missense

c.152delA; p.N51fs*54; 5:81636602-81636602

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.639G>A; p.M213I; 5:81461103-81461103

 skinmalignant_melanomaSubstitution - Missense

c.227C>T; p.P76L; 5:81615528-81615528

 pancreascarcinomaSubstitution - Missense

c.54C>T; p.A18A; 5:81750989-81750989

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.33C>G; p.A11A; 5:81751010-81751010

 breastcarcinomaSubstitution - coding silent

c.450A>G; p.P150P; 5:81474545-81474545

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.960T>G; p.N320K; 5:81428681-81428681

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.571-10A>T; p.?; 5:81467051-81467051

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.903G>T; p.E301D; 5:81440583-81440583

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1029T>A; p.N343K; 5:81428612-81428612

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.962C>T; p.S321F; 5:81428679-81428679

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.368T>A; p.F123Y; 5:81513632-81513632

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.368T>A; p.F123Y; 5:81513632-81513632

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.408G>C; p.R136S; 5:81489274-81489274

 breastcarcinomaSubstitution - Missense

c.198-1G>C; p.?; 5:81615558-81615558

 urinary_tract; bladdercarcinomaUnknown

c.891A>G; p.L297L; 5:81440595-81440595

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.403C>G; p.P135A; 5:81489279-81489279

 bone; femurchondrosarcomaSubstitution - Missense

c.810T>G; p.T270T; 5:81442692-81442692

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.727C>T; p.P243S; 5:81446919-81446919

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.485C>T; p.P162L; 5:81474510-81474510

 skinmalignant_melanomaSubstitution - Missense

c.719A>T; p.Y240F; 5:81448794-81448794

 prostateadenomaSubstitution - Missense

c.2T>A; p.M1K; 5:81751041-81751041

 livercarcinomaSubstitution - Missense

c.2T>A; p.M1K; 5:81751041-81751041

 livercarcinomaSubstitution - Missense

c.282+1G>A; p.?; 5:81615472-81615472

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.530G>T; p.R177I; 5:81473740-81473740

 breastcarcinomaSubstitution - Missense

c.709C>T; p.P237S; 5:81448804-81448804

 skin; abdomenmalignant_melanomaSubstitution - Missense

c.76G>A; p.V26I; 5:81650326-81650326

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.282C>T; p.Y94Y; 5:81615473-81615473

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - coding silent

c.425C>A; p.P142H; 5:81489257-81489257

 central_nervous_system; braingliomaSubstitution - Missense

c.310C>A; p.L104I; 5:81513690-81513690

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.629G>T; p.G210V; 5:81466983-81466983

 skinmalignant_melanomaSubstitution - Missense

c.58delG; p.E20fs*3; 5:81750985-81750985

 central_nervous_system; brainatypical_teratoid-rhabdoid_tumourDeletion - Frameshift

c.981G>T; p.L327L; 5:81428660-81428660

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.235C>T; p.R79C; 5:81615520-81615520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.490C>T; p.R164*; 5:81474505-81474505

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.490C>T; p.R164*; 5:81474505-81474505

 skinmalignant_melanomaSubstitution - Nonsense

c.836C>T; p.P279L; 5:81442666-81442666

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.866G>T; p.G289V; 5:81440620-81440620

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.430C>T; p.Q144*; 5:81489252-81489252

 skinmalignant_melanomaSubstitution - Nonsense

c.593C>A; p.P198H; 5:81467019-81467019

 skinmalignant_melanomaSubstitution - Missense

c.500-3delT; p.?; 5:81473773-81473773

 stomachadenocarcinomaUnknown

c.500-3delT; p.?; 5:81473773-81473773

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.500-3delT; p.?; 5:81473773-81473773

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.500-3delT; p.?; 5:81473773-81473773

 stomachadenocarcinomaUnknown

c.249A>G; p.E83E; 5:81615506-81615506

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.627T>C; p.P209P; 5:81466985-81466985

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.81T>G; p.Y27*; 5:81650321-81650321

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.449C>T; p.P150L; 5:81474546-81474546

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.136-1G>A; p.?; 5:81636619-81636619

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.257G>T; p.S86I; 5:81615498-81615498

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.861T>C; p.G287G; 5:81440625-81440625

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.861T>C; p.G287G; 5:81440625-81440625

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.538C>G; p.P180A; 5:81473732-81473732

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.973A>G; p.M325V; 5:81428668-81428668

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.59A>G; p.E20G; 5:81750984-81750984

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.82G>A; p.E28K; 5:81650320-81650320

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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