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

Basic Information

Gene ID

3337

Name

DNAJB1

Synonymous

DnaJ (Hsp40) homolog, subfamily B, member 1;DNAJB1;DnaJ (Hsp40) homolog, subfamily B, member 1

Definition

dnaJ homolog subfamily B member 1|dnaJ protein homolog 1|heat shock 40 kDa protein 1|human DnaJ protein 1|radial spoke 16 homolog B

Position

19p13.2

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

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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 0.00.

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.142A>G; p.I48V; 19:14518208-14518208

 livercarcinomaSubstitution - Missense

c.142A>G; p.I48V; 19:14518208-14518208

 livercarcinomaSubstitution - Missense

c.258T>G; p.N86K; 19:14517000-14517000

 NSmalignant_melanomaSubstitution - Missense

c.253_254insG; p.A85fs*20; 19:14517004-14517005

 skinmalignant_melanomaInsertion - Frameshift

c.253_254insG; p.A85fs*20; 19:14517004-14517005

 skinmalignant_melanomaInsertion - Frameshift

c.253_254insG; p.A85fs*20; 19:14517004-14517005

 skinmalignant_melanomaInsertion - Frameshift

c.253_254insG; p.A85fs*20; 19:14517004-14517005

 NSmalignant_melanomaInsertion - Frameshift

c.253_254insG; p.A85fs*20; 19:14517004-14517005

 NSmalignant_melanomaInsertion - Frameshift

c.253_254insG; p.A85fs*20; 19:14517004-14517005

 skinmalignant_melanomaInsertion - Frameshift

c.253_254insG; p.A85fs*20; 19:14517004-14517005

 skinmalignant_melanomaInsertion - Frameshift

c.253_254insG; p.A85fs*20; 19:14517004-14517005

 skinmalignant_melanomaInsertion - Frameshift

c.752G>A; p.G251D; 19:14516506-14516506

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.212-1G>A; p.?; 19:14517047-14517047

 cervixcarcinoma; squamous_cell_carcinomaUnknown

c.148G>C; p.E50Q; 19:14518202-14518202

 breastcarcinomaSubstitution - Missense

c.24G>A; p.T8T; 19:14518326-14518326

 oesophaguscarcinomaSubstitution - coding silent

c.299C>T; p.A100V; 19:14516959-14516959

 pancreascarcinomaSubstitution - Missense

c.898G>C; p.E300Q; 19:14516065-14516065

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.806G>T; p.C269F; 19:14516157-14516157

 prostateadenomaSubstitution - Missense

c.393C>A; p.F131L; 19:14516865-14516865

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.88C>T; p.R30C; 19:14518262-14518262

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.352C>A; p.Q118K; 19:14516906-14516906

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.277A>G; p.T93A; 19:14516981-14516981

 livercarcinomaSubstitution - Missense

c.943A>C; p.I315L; 19:14516020-14516020

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.910delC; p.L304fs*17; 19:14516053-14516053

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.363G>A; p.G121G; 19:14516895-14516895

 skinmalignant_melanomaSubstitution - coding silent

c.839C>T; p.T280M; 19:14516124-14516124

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.898G>A; p.E300K; 19:14516065-14516065

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.838_839insGAT; p.T280>RS; 19:14516124-14516125

 breastcarcinomaComplex - insertion inframe

c.896G>A; p.G299E; 19:14516067-14516067

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.979C>T; p.P327S; 19:14515984-14515984

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.796C>T; p.L266L; 19:14516167-14516167

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.746G>A; p.R249K; 19:14516512-14516512

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.592C>G; p.R198G; 19:14516666-14516666

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.600A>T; p.E200D; 19:14516658-14516658

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.465C>T; p.P155P; 19:14516793-14516793

 livercarcinomaSubstitution - coding silent

c.570A>G; p.L190L; 19:14516688-14516688

 prostatecarcinomaSubstitution - coding silent

c.570A>G; p.L190L; 19:14516688-14516688

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.465C>T; p.P155P; 19:14516793-14516793

 livercarcinomaSubstitution - coding silent

c.443G>A; p.R148H; 19:14516815-14516815

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.454G>A; p.A152T; 19:14516804-14516804

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.391T>G; p.F131V; 19:14516867-14516867

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.880C>T; p.R294W; 19:14516083-14516083

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.380T>G; p.I127S; 19:14516878-14516878

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.52G>A; p.E18K; 19:14518298-14518298

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.52G>A; p.E18K; 19:14518298-14518298

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.738C>A; p.I246I; 19:14516520-14516520

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.40G>T; p.G14C; 19:14518310-14518310

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.158A>G; p.D53G; 19:14518192-14518192

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.498C>A; p.H166Q; 19:14516760-14516760

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.127_129delGAG; p.E43delE; 19:14518221-14518223

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - In frame

c.441C>T; p.G147G; 19:14516817-14516817

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.12C>T; p.D4D; 19:14518338-14518338

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.12C>T; p.D4D; 19:14518338-14518338

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.12C>T; p.D4D; 19:14518338-14518338

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.722A>G; p.D241G; 19:14516536-14516536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.675C>G; p.D225E; 19:14516583-14516583

 oesophaguscarcinomaSubstitution - Missense

c.935G>C; p.G312A; 19:14516028-14516028

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.892C>T; p.P298S; 19:14516071-14516071

 ovaryother; neoplasmSubstitution - Missense

c.892C>T; p.P298S; 19:14516071-14516071

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.491T>C; p.V164A; 19:14516767-14516767

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.145G>T; p.A49S; 19:14518205-14518205

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.514C>A; p.L172I; 19:14516744-14516744

 breastcarcinomaSubstitution - Missense

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