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

Basic Information

Gene ID

4601

Name

MXI1

Synonymous

MAX interactor 1, dimerization protein;MXI1;MAX interactor 1, dimerization protein

Definition

MAX dimerization protein 2|Max-related transcription factor|class C basic helix-loop-helix protein 11|max-interacting protein 1

Position

10q24-q25

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 0.24.

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.831T>C; p.S277S; 10:110284930-110284930

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.812A>G; p.D271G; 10:110284911-110284911

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.479T>C; p.L160P; 10:110279221-110279221

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.707G>A; p.R236H; 10:110280068-110280068

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.671G>A; p.R224Q; 10:110280032-110280032

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.628C>T; p.R210*; 10:110279989-110279989

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.572G>T; p.R191I; 10:110279933-110279933

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.828G>A; p.P276P; 10:110284927-110284927

 skinmalignant_melanomaSubstitution - coding silent

c.315G>A; p.P105P; 10:110228229-110228229

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.452G>A; p.R151H; 10:110279194-110279194

 large_intestine; coloncarcinomaSubstitution - Missense

c.452G>A; p.R151H; 10:110279194-110279194

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.451C>T; p.R151C; 10:110279193-110279193

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.670C>T; p.R224*; 10:110280031-110280031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.162T>G; p.I54M; 10:110207970-110207970

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.265G>T; p.E89*; 10:110208073-110208073

 skinmalignant_melanomaSubstitution - Nonsense

c.157G>A; p.D53N; 10:110207965-110207965

 breastcarcinoma; lobular_carcinomaSubstitution - Missense

c.306G>A; p.P102P; 10:110228220-110228220

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.665G>A; p.R222Q; 10:110280026-110280026

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.108G>A; p.P36P; 10:110207916-110207916

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.781A>G; p.I261V; 10:110284880-110284880

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.725-5G>T; p.?; 10:110284819-110284819

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.806T>A; p.I269N; 10:110284905-110284905

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.607G>T; p.E203*; 10:110279968-110279968

 livercarcinomaSubstitution - Nonsense

c.607G>T; p.E203*; 10:110279968-110279968

 livercarcinomaSubstitution - Nonsense

c.486A>G; p.P162P; 10:110279228-110279228

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.587A>C; p.Q196P; 10:110279948-110279948

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.587A>C; p.Q196P; 10:110279948-110279948

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.844G>A; p.E282K; 10:110284943-110284943

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.266_270delAAAAC; p.N90fs*3; 10:110208074-110208078

 central_nervous_system; brainglioma; oligodendroglioma_Grade_IIIDeletion - Frameshift

c.83C>G; p.P28R; 10:110207891-110207891

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.863G>T; p.S288I; 10:110284962-110284962

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.500G>A; p.C167Y; 10:110279242-110279242

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.467G>T; p.R156L; 10:110279209-110279209

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.378C>T; p.S126S; 10:110228292-110228292

 pancreascarcinomaSubstitution - coding silent

c.759C>A; p.F253L; 10:110284858-110284858

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.287G>T; p.G96V; 10:110228201-110228201

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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