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

Basic Information

Gene ID

10481

Name

HOXB13

Synonymous

homeobox B13;HOXB13;homeobox B13

Definition

homeobox protein Hox-B13

Position

17q21.2

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 0.04.

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.304C>G; p.Q102E; 17:48728290-48728290

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.534G>A; p.W178*; 17:48728060-48728060

 breastcarcinomaSubstitution - Nonsense

c.676G>A; p.G226R; 17:48726969-48726969

 skinmalignant_melanomaSubstitution - Missense

c.457G>A; p.G153S; 17:48728137-48728137

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.761G>A; p.S254N; 17:48726884-48726884

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.605C>T; p.S202F; 17:48727040-48727040

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.435C>A; p.D145E; 17:48728159-48728159

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.846T>C; p.A282A; 17:48726799-48726799

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.233T>A; p.V78E; 17:48728361-48728361

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.649C>G; p.R217G; 17:48726996-48726996

 thyroidother; neoplasmSubstitution - Missense

c.291G>A; p.L97L; 17:48728303-48728303

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.352G>A; p.E118K; 17:48728242-48728242

 skinmalignant_melanomaSubstitution - Missense

c.652A>G; p.K218E; 17:48726993-48726993

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.664C>T; p.P222S; 17:48726981-48726981

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.664C>T; p.P222S; 17:48726981-48726981

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.664C>T; p.P222S; 17:48726981-48726981

 skinmalignant_melanomaSubstitution - Missense

c.227C>T; p.A76V; 17:48728367-48728367

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.220T>C; p.S74P; 17:48728374-48728374

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.194C>A; p.P65Q; 17:48728400-48728400

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.158T>C; p.L53P; 17:48728436-48728436

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.708G>T; p.A236A; 17:48726937-48726937

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.168G>T; p.S56S; 17:48728426-48728426

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.85G>A; p.A29T; 17:48728509-48728509

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.593C>T; p.A198V; 17:48728001-48728001

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.548G>T; p.C183F; 17:48728046-48728046

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.565A>G; p.N189D; 17:48728029-48728029

 breastcarcinomaSubstitution - Missense

c.602-8C>T; p.?; 17:48727051-48727051

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisUnknown

c.427T>A; p.Y143N; 17:48728167-48728167

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.72_73insG; p.R25fs*102; 17:48728521-48728522

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.707C>T; p.A236V; 17:48726938-48726938

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.739C>T; p.R247C; 17:48726906-48726906

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.739C>T; p.R247C; 17:48726906-48726906

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.602-4G>A; p.?; 17:48727047-48727047

 pancreascarcinomaUnknown

c.336G>A; p.E112E; 17:48728258-48728258

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.181A>G; p.K61E; 17:48728413-48728413

 pancreascarcinomaSubstitution - Missense

c.15T>A; p.N5K; 17:48728579-48728579

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.219G>T; p.T73T; 17:48728375-48728375

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.708G>A; p.A236A; 17:48726937-48726937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.63G>A; p.A21A; 17:48728531-48728531

 skinmalignant_melanomaSubstitution - coding silent

c.256G>A; p.G86R; 17:48728338-48728338

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.640C>T; p.R214C; 17:48727005-48727005

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.646G>A; p.G216S; 17:48726999-48726999

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.154G>A; p.D52N; 17:48728440-48728440

 skinmalignant_melanomaSubstitution - Missense

c.303C>A; p.A101A; 17:48728291-48728291

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.418A>G; p.M140V; 17:48728176-48728176

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.72G>A; p.G24G; 17:48728522-48728522

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.514T>G; p.W172G; 17:48728080-48728080

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.222C>T; p.S74S; 17:48728372-48728372

 skinmalignant_melanomaSubstitution - coding silent

c.34G>A; p.A12T; 17:48728560-48728560

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.644G>A; p.R215H; 17:48727001-48727001

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.251G>A; p.G84E; 17:48728343-48728343

 skinmalignant_melanomaSubstitution - Missense

c.772C>T; p.R258C; 17:48726873-48726873

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.290T>C; p.L97P; 17:48728304-48728304

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.210C>T; p.P70P; 17:48728384-48728384

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.556G>A; p.G186R; 17:48728038-48728038

 skinmalignant_melanomaSubstitution - Missense

c.585G>A; p.W195*; 17:48728009-48728009

 skinmalignant_melanomaSubstitution - Nonsense

c.641G>A; p.R214H; 17:48727004-48727004

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.641G>A; p.R214H; 17:48727004-48727004

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.557G>A; p.G186E; 17:48728037-48728037

 skinmalignant_melanomaSubstitution - Missense

c.131C>A; p.P44H; 17:48728463-48728463

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.666G>A; p.P222P; 17:48726979-48726979

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.578C>G; p.P193R; 17:48728016-48728016

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.628G>A; p.A210T; 17:48727017-48727017

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.665C>T; p.P222L; 17:48726980-48726980

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.665C>T; p.P222L; 17:48726980-48726980

 breastcarcinomaSubstitution - Missense

c.832G>T; p.V278L; 17:48726813-48726813

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.654G>C; p.K218N; 17:48726991-48726991

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.218C>T; p.T73M; 17:48728376-48728376

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.767C>G; p.S256W; 17:48726878-48726878

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.658C>T; p.R220C; 17:48726987-48726987

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.271C>A; p.R91R; 17:48728323-48728323

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.654G>A; p.K218K; 17:48726991-48726991

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

')