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

Basic Information

Gene ID

11080

Name

DNAJB4

Synonymous

DnaJ (Hsp40) homolog, subfamily B, member 4;DNAJB4;DnaJ (Hsp40) homolog, subfamily B, member 4

Definition

DnaJ-like heat shock protein 40|HSP40 homolog|dnaJ homolog subfamily B member 4|heat shock 40 kDa protein 1 homolog|heat shock protein 40 homolog|human liver DnaJ-like protein

Position

1p31.1

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 0.09.

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.993G>A; p.R331R; 1:78016226-78016226

 breastcarcinomaSubstitution - coding silent

c.392C>A; p.P131H; 1:78013231-78013231

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.867G>T; p.M289I; 1:78016100-78016100

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.448G>T; p.G150W; 1:78013287-78013287

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.896C>A; p.P299Q; 1:78016129-78016129

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.896C>A; p.P299Q; 1:78016129-78016129

 livercarcinomaSubstitution - Missense

c.328A>G; p.I110V; 1:78013167-78013167

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.547C>G; p.R183G; 1:78013386-78013386

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.64A>T; p.K22*; 1:78005174-78005174

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.943G>C; p.E315Q; 1:78016176-78016176

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.731A>G; p.K244R; 1:78013570-78013570

 pancreascarcinomaSubstitution - Missense

c.462C>T; p.L154L; 1:78013301-78013301

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.462C>T; p.L154L; 1:78013301-78013301

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.343C>T; p.R115*; 1:78013182-78013182

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.333C>T; p.F111F; 1:78013172-78013172

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.139G>T; p.E47*; 1:78005249-78005249

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.139G>T; p.E47*; 1:78005249-78005249

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.49G>A; p.D17N; 1:78005159-78005159

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.49G>A; p.D17N; 1:78005159-78005159

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.370G>T; p.E124*; 1:78013209-78013209

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.270T>G; p.F90L; 1:78013109-78013109

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.547C>T; p.R183*; 1:78013386-78013386

 skinmalignant_melanomaSubstitution - Nonsense

c.903delA; p.N303fs*9; 1:78016136-78016136

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.644C>T; p.T215I; 1:78013483-78013483

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.894G>A; p.L298L; 1:78016127-78016127

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.863G>T; p.G288V; 1:78016096-78016096

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.729T>G; p.F243L; 1:78013568-78013568

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.131A>C; p.K44T; 1:78005241-78005241

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.375G>A; p.M125I; 1:78013214-78013214

 breastcarcinomaSubstitution - Missense

c.38A>G; p.K13R; 1:78005148-78005148

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.38A>G; p.K13R; 1:78005148-78005148

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.632G>A; p.G211D; 1:78013471-78013471

 livercarcinomaSubstitution - Missense

c.674A>G; p.N225S; 1:78013513-78013513

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.674A>G; p.N225S; 1:78013513-78013513

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.306C>T; p.F102F; 1:78013145-78013145

 skinmalignant_melanomaSubstitution - coding silent

c.875G>T; p.R292I; 1:78016108-78016108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.457C>T; p.R153C; 1:78013296-78013296

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.532C>T; p.R178W; 1:78013371-78013371

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.259C>T; p.R87W; 1:78013098-78013098

 breastcarcinomaSubstitution - Missense

c.259C>T; p.R87W; 1:78013098-78013098

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.351T>G; p.G117G; 1:78013190-78013190

 breastcarcinomaSubstitution - coding silent

c.98C>T; p.P33L; 1:78005208-78005208

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.307G>T; p.G103*; 1:78013146-78013146

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.287C>T; p.A96V; 1:78013126-78013126

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.344G>A; p.R115Q; 1:78013183-78013183

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.344G>A; p.R115Q; 1:78013183-78013183

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.619G>C; p.G207R; 1:78013458-78013458

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.718C>A; p.H240N; 1:78013557-78013557

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.985G>T; p.V329L; 1:78016218-78016218

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.653G>A; p.R218K; 1:78013492-78013492

 skinmalignant_melanomaSubstitution - Missense

c.431G>C; p.R144T; 1:78013270-78013270

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.281C>T; p.P94L; 1:78013120-78013120

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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