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

Basic Information

Gene ID

6648

Name

SOD2

Synonymous

superoxide dismutase 2, mitochondrial;SOD2;superoxide dismutase 2, mitochondrial

Definition

Mn superoxide dismutase|indophenoloxidase B|manganese-containing superoxide dismutase|mangano-superoxide dismutase|superoxide dismutase [Mn], mitochondrial

Position

6q25.3

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

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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 0.00.

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.367C>T; p.R123C; 6:159685010-159685010

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.47T>C; p.V16A; 6:159692840-159692840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.520A>G; p.T174A; 6:159684857-159684857

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.19T>C; p.C7R; 6:159693149-159693149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.324C>T; p.N108N; 6:159688145-159688145

 breastcarcinomaSubstitution - coding silent

c.329G>A; p.G110D; 6:159688140-159688140

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.527T>G; p.L176R; 6:159682635-159682635

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.416C>T; p.S139F; 6:159684961-159684961

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.416C>T; p.S139F; 6:159684961-159684961

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.368G>A; p.R123H; 6:159685009-159685009

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.426C>A; p.V142V; 6:159684951-159684951

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.493C>G; p.P165A; 6:159684884-159684884

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.581A>C; p.K194T; 6:159682581-159682581

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.571C>A; p.L191I; 6:159682591-159682591

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.229G>A; p.D77N; 6:159688240-159688240

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.199_201delGAG; p.E67delE; 6:159692686-159692688

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - In frame

c.421G>T; p.G141C; 6:159684956-159684956

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.409G>A; p.A137T; 6:159684968-159684968

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.330T>G; p.G110G; 6:159688139-159688139

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.171C>A; p.A57A; 6:159692716-159692716

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.288C>T; p.I96I; 6:159688181-159688181

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.318C>T; p.S106S; 6:159688151-159688151

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.243G>A; p.Q81Q; 6:159688226-159688226

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.243G>A; p.Q81Q; 6:159688226-159688226

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.138C>T; p.I46I; 6:159692749-159692749

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.558G>T; p.E186D; 6:159682604-159682604

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

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