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

Basic Information

Gene ID

84707

Name

BEX2

Synonymous

brain expressed X-linked 2;BEX2;brain expressed X-linked 2

Definition

brain-expressed X-linked protein 2|hBex2|protein BEX2

Position

Xq22

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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There is no record for BEX2

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.24G>A; p.A8A; 23:103309953-103309953

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.24G>A; p.A8A; 23:103309953-103309953

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.169C>T; p.R57C; 23:103309808-103309808

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157C>T; p.R53C; 23:103309820-103309820

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.23C>T; p.A8V; 23:103309954-103309954

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.28A>C; p.N10H; 23:103309949-103309949

breastcarcinomaSubstitution - Missense

c.351C>A; p.H117Q; 23:103309626-103309626

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.88G>T; p.V30F; 23:103309889-103309889

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.19C>T; p.R7*; 23:103309958-103309958

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.19C>T; p.R7*; 23:103309958-103309958

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.200G>A; p.W67*; 23:103309777-103309777

pleurapulmonary_blastomaSubstitution - Nonsense

c.172G>A; p.V58I; 23:103309805-103309805

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.22G>T; p.A8S; 23:103309955-103309955

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.161G>T; p.R54M; 23:103309816-103309816

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.155A>G; p.N52S; 23:103309822-103309822

livercarcinomaSubstitution - Missense

c.22G>C; p.A8P; 23:103309955-103309955

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.158G>A; p.R53H; 23:103309819-103309819

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.58G>A; p.E20K; 23:103309919-103309919

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.352C>T; p.H118Y; 23:103309625-103309625

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.364G>A; p.D122N; 23:103309613-103309613

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.51C>T; p.V17V; 23:103309926-103309926

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.219T>C; p.L73L; 23:103309758-103309758

stomachadenocarcinomaSubstitution - coding silent

c.145C>T; p.P49S; 23:103309832-103309832

skinmalignant_melanomaSubstitution - Missense

c.164G>A; p.R55Q; 23:103309813-103309813

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.119C>A; p.P40H; 23:103309858-103309858

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense


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