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

Basic Information

Gene ID

10181

Name

RBM5

Synonymous

RNA binding motif protein 5;RBM5;RNA binding motif protein 5

Definition

RNA-binding protein 5|putative tumor suppressor LUCA15|renal carcinoma antigen NY-REN-9

Position

3p21.3

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

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 0.36.

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.2038C>T; p.R680*; 3:50115924-50115924

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1962C>T; p.R654R; 3:50115550-50115550

 skinmalignant_melanomaSubstitution - coding silent

c.2388C>T; p.A796A; 3:50118396-50118396

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1912G>T; p.E638*; 3:50115500-50115500

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Nonsense

c.1912G>T; p.E638*; 3:50115500-50115500

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1704G>C; p.L568F; 3:50114036-50114036

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1237C>T; p.P413S; 3:50109647-50109647

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.191G>A; p.R64H; 3:50093727-50093727

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.888T>C; p.S296S; 3:50106799-50106799

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1445C>T; p.P482L; 3:50110760-50110760

 skinmalignant_melanomaSubstitution - Missense

c.764C>T; p.A255V; 3:50105618-50105618

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.356A>C; p.E119A; 3:50099998-50099998

 pancreascarcinomaSubstitution - Missense

c.1554C>T; p.G518G; 3:50113481-50113481

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.848C>G; p.S283C; 3:50105702-50105702

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1365A>G; p.A455A; 3:50110680-50110680

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1365A>G; p.A455A; 3:50110680-50110680

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.382G>C; p.D128H; 3:50100024-50100024

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.217G>A; p.E73K; 3:50093753-50093753

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.217G>A; p.E73K; 3:50093753-50093753

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1366G>C; p.V456L; 3:50110681-50110681

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1760A>G; p.E587G; 3:50114092-50114092

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.432_433CG>GT; p.F144>?; 3:50100554-50100555

 lungcarcinoma; adenocarcinomaComplex

c.1675A>G; p.K559E; 3:50114007-50114007

 skinmalignant_melanomaSubstitution - Missense

c.726_727delTG; p.V243fs*18; 3:50105580-50105581

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.308G>A; p.R103H; 3:50093844-50093844

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1293G>A; p.Q431Q; 3:50110393-50110393

 stomachadenocarcinomaSubstitution - coding silent

c.418C>A; p.R140S; 3:50100540-50100540

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2412G>A; p.R804R; 3:50118420-50118420

 skinmalignant_melanomaSubstitution - coding silent

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 stomachcarcinoma; diffuse_adenocarcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.486A>C; p.K162N; 3:50103085-50103085

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2110C>T; p.R704*; 3:50117089-50117089

 breastcarcinomaSubstitution - Nonsense

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 breastcarcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 skinmalignant_melanomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 NSmalignant_melanomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 skinmalignant_melanomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 livercarcinomaDeletion - Frameshift

c.2447_2448delGA; p.*816fs?; 3:50118455-50118456

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1717A>G; p.R573G; 3:50114049-50114049

 livercarcinomaSubstitution - Missense

c.82C>T; p.R28C; 3:50092107-50092107

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1717A>G; p.R573G; 3:50114049-50114049

 livercarcinomaSubstitution - Missense

c.2342G>C; p.G781A; 3:50118350-50118350

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1684delT; p.Q563fs*6; 3:50114016-50114016

 breastcarcinomaDeletion - Frameshift

c.2006C>T; p.S669L; 3:50115594-50115594

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.536G>C; p.R179T; 3:50103135-50103135

 livercarcinomaSubstitution - Missense

c.536G>C; p.R179T; 3:50103135-50103135

 livercarcinomaSubstitution - Missense

c.335G>A; p.S112N; 3:50093871-50093871

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.898C>T; p.P300S; 3:50106809-50106809

 skinmalignant_melanomaSubstitution - Missense

c.2071G>C; p.A691P; 3:50115957-50115957

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1666G>T; p.E556*; 3:50113998-50113998

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2052G>C; p.L684L; 3:50115938-50115938

 livercarcinomaSubstitution - coding silent

c.2052G>C; p.L684L; 3:50115938-50115938

 livercarcinomaSubstitution - coding silent

c.954-3C>G; p.?; 3:50107479-50107479

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.2092G>A; p.E698K; 3:50115978-50115978

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.986G>A; p.S329N; 3:50107514-50107514

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.990T>C; p.A330A; 3:50107518-50107518

 thyroidother; neoplasmSubstitution - coding silent

c.83G>A; p.R28H; 3:50092108-50092108

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1369C>T; p.P457S; 3:50110684-50110684

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1553G>A; p.G518D; 3:50113480-50113480

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2276G>T; p.G759V; 3:50117333-50117333

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.795A>T; p.I265I; 3:50105649-50105649

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2104C>T; p.R702*; 3:50117083-50117083

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Nonsense

c.161A>G; p.Y54C; 3:50092186-50092186

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1961G>T; p.R654L; 3:50115549-50115549

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1727C>T; p.S576F; 3:50114059-50114059

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1727C>T; p.S576F; 3:50114059-50114059

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.307C>T; p.R103C; 3:50093843-50093843

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.255C>T; p.H85H; 3:50093791-50093791

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1335T>C; p.P445P; 3:50110435-50110435

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.503G>C; p.G168A; 3:50103102-50103102

 livercarcinomaSubstitution - Missense

c.503G>C; p.G168A; 3:50103102-50103102

 livercarcinomaSubstitution - Missense

c.1502delA; p.E503fs*49; 3:50113429-50113429

 skin; mucosalmalignant_melanomaDeletion - Frameshift

c.2373T>A; p.Y791*; 3:50118381-50118381

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.1A>T; p.M1L; 3:50090435-50090435

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1A>T; p.M1L; 3:50090435-50090435

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1636C>T; p.R546C; 3:50113968-50113968

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1740C>T; p.D580D; 3:50114072-50114072

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1740C>T; p.D580D; 3:50114072-50114072

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.495G>A; p.V165V; 3:50103094-50103094

 livercarcinomaSubstitution - coding silent

c.495G>A; p.V165V; 3:50103094-50103094

 livercarcinomaSubstitution - coding silent

c.398_399AG>TC; p.K133I; 3:50100040-50100041

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2368G>A; p.A790T; 3:50118376-50118376

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.35G>A; p.R12H; 3:50092060-50092060

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.164G>A; p.R55Q; 3:50092189-50092189

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1070A>G; p.D357G; 3:50108098-50108098

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1810C>T; p.R604*; 3:50114222-50114222

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1439A>G; p.Y480C; 3:50110754-50110754

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.606C>T; p.F202F; 3:50104286-50104286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1455A>G; p.Q485Q; 3:50110770-50110770

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1278G>A; p.P426P; 3:50109688-50109688

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.137G>A; p.R46Q; 3:50092162-50092162

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2410C>T; p.R804W; 3:50118418-50118418

 skinmalignant_melanomaSubstitution - Missense

c.344G>C; p.R115P; 3:50099986-50099986

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1057G>C; p.G353R; 3:50108085-50108085

 prostateadenomaSubstitution - Missense

c.1515C>T; p.Y505Y; 3:50113442-50113442

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.105G>T; p.R35S; 3:50092130-50092130

 skinmalignant_melanomaSubstitution - Missense

c.136C>T; p.R46W; 3:50092161-50092161

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.417C>T; p.S139S; 3:50100539-50100539

 skinmalignant_melanomaSubstitution - coding silent

c.1653G>C; p.L551F; 3:50113985-50113985

 breastcarcinomaSubstitution - Missense

c.1119+1G>A; p.?; 3:50108148-50108148

 lungcarcinoma; adenocarcinomaUnknown

c.443A>G; p.Y148C; 3:50100565-50100565

 breastcarcinomaSubstitution - Missense

c.279C>T; p.D93D; 3:50093815-50093815

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2165G>A; p.R722H; 3:50117144-50117144

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.524A>G; p.Y175C; 3:50103123-50103123

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1242G>A; p.Q414Q; 3:50109652-50109652

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2332C>T; p.R778W; 3:50118340-50118340

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1295C>A; p.P432H; 3:50110395-50110395

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2409C>T; p.V803V; 3:50118417-50118417

 skinmalignant_melanomaSubstitution - coding silent

c.1971G>A; p.P657P; 3:50115559-50115559

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.983T>C; p.V328A; 3:50107511-50107511

 prostatecarcinomaSubstitution - Missense

c.2381C>T; p.S794L; 3:50118389-50118389

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1327G>A; p.A443T; 3:50110427-50110427

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.788G>A; p.R263H; 3:50105642-50105642

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1276C>T; p.P426S; 3:50109686-50109686

 skinmalignant_melanomaSubstitution - Missense

c.788G>A; p.R263H; 3:50105642-50105642

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1903_1904delGA; p.S636fs*1; 3:50115491-50115492

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.533C>T; p.P178L; 3:50103132-50103132

 skinmalignant_melanomaSubstitution - Missense

c.1027T>C; p.W343R; 3:50107555-50107555

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.268G>A; p.D90N; 3:50093804-50093804

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.316C>T; p.P106S; 3:50093852-50093852

 skinmalignant_melanomaSubstitution - Missense

c.102G>A; p.R34R; 3:50092127-50092127

 skinmalignant_melanomaSubstitution - coding silent

c.2399A>G; p.K800R; 3:50118407-50118407

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.616G>A; p.A206T; 3:50104296-50104296

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.968C>T; p.S323L; 3:50107496-50107496

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.968C>T; p.S323L; 3:50107496-50107496

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1982delC; p.L662fs*1; 3:50115570-50115570

 livercarcinomaDeletion - Frameshift

c.1267C>T; p.P423S; 3:50109677-50109677

 skinmalignant_melanomaSubstitution - Missense

c.2336T>G; p.L779R; 3:50118344-50118344

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1909G>A; p.E637K; 3:50115497-50115497

 breastcarcinomaSubstitution - Missense

c.2376T>C; p.G792G; 3:50118384-50118384

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1110_1111insA; p.Y371fs*22; 3:50108138-50108139

 breastcarcinoma; basal_(triple-negative)_carcinomaInsertion - Frameshift

c.275G>A; p.S92N; 3:50093811-50093811

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2428C>T; p.R810W; 3:50118436-50118436

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

')