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

Basic Information

Gene ID

55735

Name

DNAJC11

Synonymous

DnaJ (Hsp40) homolog, subfamily C, member 11;DNAJC11;DnaJ (Hsp40) homolog, subfamily C, member 11

Definition

dnaJ homolog subfamily C member 11|novel DnaJ domain-containing protein

Position

1p36.31

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 0.27.

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.1390A>G; p.I464V; 1:6637332-6637332

 central_nervous_system; braingliomaSubstitution - Missense

c.1135C>T; p.H379Y; 1:6640020-6640020

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.451G>C; p.G151R; 1:6653967-6653967

 livercarcinomaSubstitution - Missense

c.621A>C; p.G207G; 1:6652838-6652838

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.566G>T; p.G189V; 1:6652893-6652893

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.751C>T; p.R251*; 1:6645932-6645932

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.723_724delTG; p.A242fs*41; 1:6645959-6645960

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1161C>T; p.S387S; 1:6639994-6639994

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.711G>A; p.V237V; 1:6645972-6645972

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.587A>C; p.N196T; 1:6652872-6652872

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.1440C>T; p.S480S; 1:6637282-6637282

 central_nervous_system; braingliomaSubstitution - coding silent

c.1526C>T; p.A509V; 1:6636245-6636245

 skinmalignant_melanomaSubstitution - Missense

c.799G>A; p.V267M; 1:6645884-6645884

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.45T>C; p.Y15Y; 1:6701756-6701756

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1381+2T>G; p.?; 1:6637445-6637445

 breastcarcinomaUnknown

c.1254-8C>T; p.?; 1:6638372-6638372

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.169C>T; p.R57*; 1:6680941-6680941

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1448T>A; p.V483E; 1:6637274-6637274

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1448T>A; p.V483E; 1:6637274-6637274

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.975C>G; p.S325S; 1:6645046-6645046

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1078G>C; p.G360R; 1:6644577-6644577

 pancreascarcinomaSubstitution - Missense

c.153C>T; p.L51L; 1:6680957-6680957

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1588C>G; p.Q530E; 1:6636183-6636183

 thyroidcarcinomaSubstitution - Missense

c.451G>A; p.G151S; 1:6653967-6653967

 livercarcinomaSubstitution - Missense

c.922A>G; p.I308V; 1:6645099-6645099

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1393G>A; p.V465I; 1:6637329-6637329

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.463_464CC>TT; p.P155L; 1:6653954-6653955

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.817C>T; p.R273*; 1:6645866-6645866

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.602G>A; p.R201Q; 1:6652857-6652857

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1011C>T; p.Y337Y; 1:6644644-6644644

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.333G>C; p.Q111H; 1:6667754-6667754

 breastcarcinomaSubstitution - Missense

c.1087delC; p.L363fs*18; 1:6644568-6644568

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.195T>G; p.A65A; 1:6680915-6680915

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1048G>A; p.G350S; 1:6644607-6644607

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.995G>A; p.G332E; 1:6644660-6644660

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.995G>A; p.G332E; 1:6644660-6644660

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.316G>C; p.E106Q; 1:6667771-6667771

 breastcarcinomaSubstitution - Missense

c.1496C>T; p.S499L; 1:6637226-6637226

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1586A>G; p.Y529C; 1:6636185-6636185

 thyroidcarcinomaSubstitution - Missense

c.964G>C; p.V322L; 1:6645057-6645057

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1639C>T; p.R547W; 1:6636132-6636132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.844A>T; p.T282S; 1:6645839-6645839

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.996G>A; p.G332G; 1:6644659-6644659

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.878T>C; p.F293S; 1:6645805-6645805

 thyroidother; neoplasmSubstitution - Missense

c.158C>G; p.S53*; 1:6680952-6680952

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.408C>T; p.T136T; 1:6654010-6654010

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.673C>A; p.L225I; 1:6651560-6651560

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.578G>T; p.G193V; 1:6652881-6652881

 livercarcinomaSubstitution - Missense

c.1282G>A; p.A428T; 1:6638336-6638336

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1214delG; p.R405fs*2; 1:6639941-6639941

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.750C>T; p.I250I; 1:6645933-6645933

 skinmalignant_melanomaSubstitution - coding silent

c.858A>G; p.R286R; 1:6645825-6645825

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1611G>A; p.Q537Q; 1:6636160-6636160

 skinmalignant_melanomaSubstitution - coding silent

c.731A>G; p.Q244R; 1:6645952-6645952

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1611G>A; p.Q537Q; 1:6636160-6636160

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1611G>A; p.Q537Q; 1:6636160-6636160

 skinmalignant_melanomaSubstitution - coding silent

c.1062C>T; p.S354S; 1:6644593-6644593

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1041C>T; p.S347S; 1:6644614-6644614

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>T; p.S304S; 1:6645109-6645109

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1205C>T; p.A402V; 1:6639950-6639950

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1553G>T; p.C518F; 1:6636218-6636218

 pancreascarcinomaSubstitution - Missense

c.612G>A; p.S204S; 1:6652847-6652847

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.451G>T; p.G151C; 1:6653967-6653967

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.103C>T; p.R35W; 1:6681007-6681007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.331_332insAG; p.E116fs*19; 1:6667755-6667756

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.54G>C; p.L18F; 1:6701747-6701747

 ovaryother; neoplasmSubstitution - Missense

c.467A>G; p.Q156R; 1:6653951-6653951

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.359delA; p.Q120fs*14; 1:6667728-6667728

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.1059C>T; p.V353V; 1:6644596-6644596

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1394T>C; p.V465A; 1:6637328-6637328

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1394T>C; p.V465A; 1:6637328-6637328

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.320T>G; p.F107C; 1:6667767-6667767

 livercarcinomaSubstitution - Missense

c.1394T>C; p.V465A; 1:6637328-6637328

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.868A>C; p.T290P; 1:6645815-6645815

 thyroidother; neoplasmSubstitution - Missense

c.868A>C; p.T290P; 1:6645815-6645815

 thyroidother; neoplasmSubstitution - Missense

c.1254-5G>A; p.?; 1:6638369-6638369

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalUnknown

c.77C>T; p.S26F; 1:6681033-6681033

 skinmalignant_melanomaSubstitution - Missense

c.439G>T; p.E147*; 1:6653979-6653979

 NSNSSubstitution - Nonsense

c.1599C>T; p.G533G; 1:6636172-6636172

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1081G>A; p.V361I; 1:6644574-6644574

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1449G>T; p.V483V; 1:6637273-6637273

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.880A>G; p.T294A; 1:6645803-6645803

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.995G>T; p.G332V; 1:6644660-6644660

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.877T>A; p.F293I; 1:6645806-6645806

 thyroidother; neoplasmSubstitution - Missense

c.249G>A; p.K83K; 1:6678421-6678421

 breastcarcinomaSubstitution - coding silent

c.1595G>A; p.R532Q; 1:6636176-6636176

 livercarcinomaSubstitution - Missense

c.1637T>C; p.L546P; 1:6636134-6636134

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1026G>A; p.K342K; 1:6644629-6644629

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.325C>T; p.R109W; 1:6667762-6667762

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1080T>C; p.G360G; 1:6644575-6644575

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.818G>A; p.R273Q; 1:6645865-6645865

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.778C>T; p.R260W; 1:6645905-6645905

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.705-1G>A; p.?; 1:6645979-6645979

 stomachcarcinoma; adenocarcinomaUnknown

c.1449G>A; p.V483V; 1:6637273-6637273

 breastcarcinomaSubstitution - coding silent

c.1614G>A; p.V538V; 1:6636157-6636157

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.638T>G; p.F213C; 1:6651595-6651595

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.304G>A; p.E102K; 1:6667783-6667783

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.237T>A; p.D79E; 1:6678433-6678433

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1292_1296delTGCTG; p.V431fs*22; 1:6638322-6638326

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.254G>A; p.G85E; 1:6678416-6678416

 skinmalignant_melanomaSubstitution - Missense

c.1396A>G; p.N466D; 1:6637326-6637326

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.675C>A; p.L225L; 1:6651558-6651558

 skinmalignant_melanomaSubstitution - coding silent

c.1461C>T; p.D487D; 1:6637261-6637261

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1518C>A; p.A506A; 1:6637204-6637204

 breastcarcinomaSubstitution - coding silent

c.624G>T; p.W208C; 1:6652835-6652835

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1472C>T; p.P491L; 1:6637250-6637250

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.611C>T; p.S204L; 1:6652848-6652848

 skinmalignant_melanomaSubstitution - Missense

c.611C>T; p.S204L; 1:6652848-6652848

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.765C>T; p.T255T; 1:6645918-6645918

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.615A>C; p.A205A; 1:6652844-6652844

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1272G>A; p.R424R; 1:6638346-6638346

 skinmalignant_melanomaSubstitution - coding silent

c.743G>A; p.R248H; 1:6645940-6645940

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1031C>T; p.S344F; 1:6644624-6644624

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.313G>A; p.E105K; 1:6667774-6667774

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1031C>T; p.S344F; 1:6644624-6644624

 NSmalignant_melanomaSubstitution - Missense

c.1031C>T; p.S344F; 1:6644624-6644624

 NSmalignant_melanomaSubstitution - Missense

c.532G>A; p.A178T; 1:6652927-6652927

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.712A>T; p.T238S; 1:6645971-6645971

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.931C>T; p.Q311*; 1:6645090-6645090

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.343_344delGA; p.E115fs*25; 1:6667743-6667744

 skinmalignant_melanomaDeletion - Frameshift

c.343_344delGA; p.E115fs*25; 1:6667743-6667744

 skinmalignant_melanomaDeletion - Frameshift

c.343_344delGA; p.E115fs*25; 1:6667743-6667744

 breastcarcinomaDeletion - Frameshift

c.343_344delGA; p.E115fs*25; 1:6667743-6667744

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.343_344delGA; p.E115fs*25; 1:6667743-6667744

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1395C>A; p.V465V; 1:6637327-6637327

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1254-2A>G; p.?; 1:6638366-6638366

 stomachcarcinoma; adenocarcinomaUnknown

c.310C>T; p.R104*; 1:6667777-6667777

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1012G>A; p.G338R; 1:6644643-6644643

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.310C>T; p.R104*; 1:6667777-6667777

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.364C>T; p.R122*; 1:6667723-6667723

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.364C>T; p.R122*; 1:6667723-6667723

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

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