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

Basic Information

Gene ID

9093

Name

DNAJA3

Synonymous

DnaJ (Hsp40) homolog, subfamily A, member 3;DNAJA3;DnaJ (Hsp40) homolog, subfamily A, member 3

Definition

dnaJ homolog subfamily A member 3, mitochondrial|dnaJ protein Tid-1|hepatocellular carcinoma-associated antigen 57|tumorous imaginal discs protein Tid56 homolog

Position

16p13.3

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

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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 0.16.

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.486C>T; p.F162F; 16:4441431-4441431

 skinmalignant_melanomaSubstitution - coding silent

c.739G>A; p.G247S; 16:4442376-4442376

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1204G>A; p.G402R; 16:4448811-4448811

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.511C>A; p.H171N; 16:4441456-4441456

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1283C>T; p.A428V; 16:4450441-4450441

 skinmalignant_melanomaSubstitution - Missense

c.138C>T; p.P46P; 16:4426019-4426019

 skinmalignant_melanomaSubstitution - coding silent

c.547G>A; p.E183K; 16:4441492-4441492

 breastcarcinomaSubstitution - Missense

c.475T>C; p.S159P; 16:4441420-4441420

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.950C>T; p.T317I; 16:4444682-4444682

 skinmalignant_melanomaSubstitution - Missense

c.231C>G; p.F77L; 16:4434403-4434403

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1184G>A; p.R395Q; 16:4448791-4448791

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1337C>G; p.S446C; 16:4450495-4450495

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1083T>A; p.G361G; 16:4446972-4446972

 thyroidother; neoplasmSubstitution - coding silent

c.305G>A; p.R102Q; 16:4434477-4434477

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.471C>T; p.Y157Y; 16:4441416-4441416

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.914T>G; p.M305R; 16:4443147-4443147

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.315_316CC>TT; p.Q106*; 16:4434487-4434488

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1167T>G; p.G389G; 16:4448774-4448774

 breastcarcinomaSubstitution - coding silent

c.1384G>T; p.E462*; 16:4454855-4454855

 breastcarcinoma; ductal_carcinomaSubstitution - Nonsense

c.1384G>T; p.E462*; 16:4454855-4454855

 breastcarcinoma; ductal_carcinomaSubstitution - Nonsense

c.503G>A; p.G168D; 16:4441448-4441448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.255G>A; p.T85T; 16:4434427-4434427

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.689T>C; p.V230A; 16:4442326-4442326

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1131C>T; p.P377P; 16:4448738-4448738

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1131C>T; p.P377P; 16:4448738-4448738

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.814C>T; p.R272C; 16:4443047-4443047

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1018C>T; p.R340W; 16:4446907-4446907

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.666G>A; p.K222K; 16:4442303-4442303

 skinmalignant_melanomaSubstitution - coding silent

c.983T>G; p.F328C; 16:4444715-4444715

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.661G>A; p.A221T; 16:4442298-4442298

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.661G>A; p.A221T; 16:4442298-4442298

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.343C>T; p.Q115*; 16:4434515-4434515

 breastcarcinomaSubstitution - Nonsense

c.657A>C; p.Q219H; 16:4442294-4442294

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.609C>T; p.T203T; 16:4441554-4441554

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.491C>A; p.P164H; 16:4441436-4441436

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.574G>A; p.E192K; 16:4441519-4441519

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.978A>C; p.E326D; 16:4444710-4444710

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1406G>A; p.G469E; 16:4454877-4454877

 breastcarcinomaSubstitution - Missense

c.924G>A; p.V308V; 16:4443157-4443157

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.808G>T; p.V270L; 16:4443041-4443041

 skinmalignant_melanomaSubstitution - Missense

c.1311G>A; p.T437T; 16:4450469-4450469

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.943G>A; p.G315S; 16:4444675-4444675

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1120G>A; p.V374M; 16:4447009-4447009

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1009C>G; p.P337A; 16:4446898-4446898

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1381C>T; p.R461C; 16:4454852-4454852

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.956_957GG>AA; p.R319K; 16:4444688-4444689

 skinmalignant_melanomaSubstitution - Missense

c.1442G>A; p.*481*; 16:4454913-4454913

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.462C>T; p.Y154Y; 16:4441407-4441407

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.462C>T; p.Y154Y; 16:4441407-4441407

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.22C>A; p.R8S; 16:4425903-4425903

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.207T>C; p.L69L; 16:4426088-4426088

 breastcarcinomaSubstitution - coding silent

c.347T>C; p.L116P; 16:4437403-4437403

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.575A>T; p.E192V; 16:4441520-4441520

 NSNSSubstitution - Missense

c.207T>C; p.L69L; 16:4426088-4426088

 thyroidother; neoplasmSubstitution - coding silent

c.1165G>A; p.G389S; 16:4448772-4448772

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.545C>T; p.P182L; 16:4441490-4441490

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.271A>G; p.K91E; 16:4434443-4434443

 livercarcinomaSubstitution - Missense

c.271A>G; p.K91E; 16:4434443-4434443

 livercarcinomaSubstitution - Missense

c.407C>T; p.S136F; 16:4437463-4437463

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.603C>T; p.F201F; 16:4441548-4441548

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.552G>T; p.E184D; 16:4441497-4441497

 thyroidother; neoplasmSubstitution - Missense

c.803C>T; p.P268L; 16:4443036-4443036

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1128delC; p.P378fs*39; 16:4448735-4448735

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.953T>A; p.V318E; 16:4444685-4444685

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1045G>A; p.D349N; 16:4446934-4446934

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.929C>T; p.A310V; 16:4443162-4443162

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1438T>G; p.S480A; 16:4454909-4454909

 skinmalignant_melanomaSubstitution - Missense

c.633C>T; p.Y211Y; 16:4442270-4442270

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.37G>A; p.V13I; 16:4425918-4425918

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.575A>G; p.E192G; 16:4441520-4441520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.712C>T; p.R238C; 16:4442349-4442349

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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