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

Basic Information

Gene ID

3014

Name

H2AFX

Synonymous

H2A histone family, member X;H2AFX;H2A histone family, member X

Definition

H2AX histone|histone H2A.x|histone H2AX

Position

11q23.3

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

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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 0.00.

The copy number variations for various cancers

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There is no record for H2AFX

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.29A>G; p.K10R; 11:119095366-119095366

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.255G>A; p.Q85Q; 11:119095140-119095140

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.341C>T; p.A114V; 11:119095054-119095054

 skinmalignant_melanomaSubstitution - Missense

c.374T>C; p.V125A; 11:119095021-119095021

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.211G>A; p.A71T; 11:119095184-119095184

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.123C>T; p.A41A; 11:119095272-119095272

 breastcarcinomaSubstitution - coding silent

c.353C>T; p.P118L; 11:119095042-119095042

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.353C>T; p.P118L; 11:119095042-119095042

 skinmalignant_melanomaSubstitution - Missense

c.401A>G; p.K134R; 11:119094994-119094994

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.34C>A; p.R12S; 11:119095361-119095361

 thyroidcarcinomaSubstitution - Missense

c.65C>T; p.A22V; 11:119095330-119095330

 pancreascarcinomaSubstitution - Missense

c.322G>T; p.V108F; 11:119095073-119095073

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.407C>T; p.A136V; 11:119094988-119094988

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.296G>T; p.G99V; 11:119095099-119095099

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.124G>A; p.E42K; 11:119095271-119095271

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.124G>A; p.E42K; 11:119095271-119095271

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.412C>A; p.Q138K; 11:119094983-119094983

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.233G>A; p.R78Q; 11:119095162-119095162

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.392C>T; p.S131L; 11:119095003-119095003

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.417C>T; p.A139A; 11:119094978-119094978

 thyroidother; neoplasmSubstitution - coding silent

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