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

Basic Information

Gene ID

5936

Name

RBM4

Synonymous

RNA binding motif protein 4;RBM4;RNA binding motif protein 4

Definition

RNA-binding motif protein 4a|RNA-binding protein 4|lark homolog|transcriptional coactivator CoAZ|zinc finger CCHC-type and RNA binding motif 3A

Position

11q13

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.14.

The copy number variations for various cancers

Top

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.327C>T; p.I109I; 11:66640038-66640038

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.83T>G; p.V28G; 11:66639794-66639794

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1031T>G; p.L344R; 11:66644068-66644068

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.458C>T; p.A153V; 11:66643495-66643495

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.864T>A; p.A288A; 11:66643901-66643901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.462C>T; p.P154P; 11:66643499-66643499

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.462C>T; p.P154P; 11:66643499-66643499

 livercarcinomaSubstitution - coding silent

c.833C>T; p.P278L; 11:66643870-66643870

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.457G>A; p.A153T; 11:66643494-66643494

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.782C>T; p.A261V; 11:66643819-66643819

 skinmalignant_melanomaSubstitution - Missense

c.782C>T; p.A261V; 11:66643819-66643819

 skinmalignant_melanomaSubstitution - Missense

c.867A>T; p.A289A; 11:66643904-66643904

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.592C>T; p.R198C; 11:66643629-66643629

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.906A>G; p.S302S; 11:66643943-66643943

 livercarcinomaSubstitution - coding silent

c.906A>G; p.S302S; 11:66643943-66643943

 livercarcinomaSubstitution - coding silent

c.816C>T; p.Y272Y; 11:66643853-66643853

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.913G>A; p.G305R; 11:66643950-66643950

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.419G>A; p.R140Q; 11:66643456-66643456

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1030C>G; p.L344V; 11:66644067-66644067

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.308C>T; p.P103L; 11:66640019-66640019

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.55C>T; p.R19C; 11:66639766-66639766

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1081T>C; p.Y361H; 11:66644118-66644118

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.916C>T; p.R306W; 11:66643953-66643953

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1075G>A; p.A359T; 11:66644112-66644112

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.359G>A; p.R120Q; 11:66640070-66640070

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.346G>C; p.V116L; 11:66640057-66640057

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.477G>C; p.Q159H; 11:66643514-66643514

 breastcarcinomaSubstitution - Missense

c.1019C>T; p.A340V; 11:66644056-66644056

 livercarcinomaSubstitution - Missense

c.1019C>T; p.A340V; 11:66644056-66644056

 livercarcinomaSubstitution - Missense

c.686G>A; p.R229Q; 11:66643723-66643723

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.326T>C; p.I109T; 11:66640037-66640037

 livercarcinomaSubstitution - Missense

c.326T>C; p.I109T; 11:66640037-66640037

 livercarcinomaSubstitution - Missense

c.39T>A; p.A13A; 11:66639750-66639750

 breastcarcinomaSubstitution - coding silent

c.685C>T; p.R229W; 11:66643722-66643722

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.27G>T; p.L9L; 11:66639738-66639738

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.710_718delCAGCTGCCT; p.A238_S240delAAS; 11:66643747-66643755

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaDeletion - In frame

c.710_718delCAGCTGCCT; p.A238_S240delAAS; 11:66643747-66643755

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaDeletion - In frame

c.36G>T; p.E12D; 11:66639747-66639747

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.284G>A; p.R95Q; 11:66639995-66639995

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.545G>A; p.R182H; 11:66643582-66643582

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.138G>A; p.T46T; 11:66639849-66639849

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.729T>C; p.N243N; 11:66643766-66643766

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.90A>C; p.E30D; 11:66639801-66639801

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.957C>T; p.P319P; 11:66643994-66643994

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.957C>T; p.P319P; 11:66643994-66643994

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.659C>T; p.A220V; 11:66643696-66643696

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.951A>G; p.P317P; 11:66643988-66643988

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.667A>G; p.K223E; 11:66643704-66643704

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.550G>A; p.A184T; 11:66643587-66643587

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.546C>A; p.R182R; 11:66643583-66643583

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.942T>A; p.A314A; 11:66643979-66643979

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.389G>T; p.G130V; 11:66640100-66640100

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.127G>A; p.E43K; 11:66639838-66639838

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1046G>A; p.R349Q; 11:66644083-66644083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1022G>A; p.R341Q; 11:66644059-66644059

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.346G>A; p.V116I; 11:66640057-66640057

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.596C>T; p.T199M; 11:66643633-66643633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.912C>T; p.Y304Y; 11:66643949-66643949

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.158G>A; p.R53H; 11:66639869-66639869

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.283C>T; p.R95*; 11:66639994-66639994

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.283C>T; p.R95*; 11:66639994-66639994

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.684C>T; p.A228A; 11:66643721-66643721

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.759A>G; p.P253P; 11:66643796-66643796

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.546C>T; p.R182R; 11:66643583-66643583

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.412+3G>A; p.?; 11:66640126-66640126

 thyroidcarcinomaUnknown

c.384C>G; p.I128M; 11:66640095-66640095

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.306T>C; p.G102G; 11:66640017-66640017

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.528G>T; p.P176P; 11:66643565-66643565

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.490C>T; p.R164W; 11:66643527-66643527

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.756G>A; p.L252L; 11:66643793-66643793

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.490C>A; p.R164R; 11:66643527-66643527

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.906A>T; p.S302S; 11:66643943-66643943

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.309G>A; p.P103P; 11:66640020-66640020

 urinary_tract; bladdercarcinomaSubstitution - coding silent

')