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

Basic Information

Gene ID

8788

Name

DLK1

Synonymous

delta-like 1 homolog (Drosophila);DLK1;delta-like 1 homolog (Drosophila)

Definition

fetal antigen 1|preadipocyte factor 1|protein delta homolog 1|secredeltin

Position

14q32

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 0.06.

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.511G>A; p.A171T; 14:100734255-100734255

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.192T>G; p.L64L; 14:100728996-100728996

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.362G>T; p.G121V; 14:100732141-100732141

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.425G>A; p.G142D; 14:100734169-100734169

 breastcarcinomaSubstitution - Missense

c.1012C>A; p.R338S; 14:100734756-100734756

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.770G>A; p.R257H; 14:100734514-100734514

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.799C>T; p.R267C; 14:100734543-100734543

 skinmalignant_melanomaSubstitution - Missense

c.568G>T; p.G190C; 14:100734312-100734312

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.770G>A; p.R257H; 14:100734514-100734514

 skinmalignant_melanomaSubstitution - Missense

c.747G>T; p.A249A; 14:100734491-100734491

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.550G>A; p.V184I; 14:100734294-100734294

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.269G>A; p.R90Q; 14:100732048-100732048

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1034A>C; p.K345T; 14:100734778-100734778

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.827C>T; p.P276L; 14:100734571-100734571

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.306C>A; p.T102T; 14:100732085-100732085

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.522C>A; p.C174*; 14:100734266-100734266

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.421G>T; p.G141*; 14:100734165-100734165

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.452C>T; p.A151V; 14:100734196-100734196

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1131G>A; p.E377E; 14:100734875-100734875

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.564T>C; p.I188I; 14:100734308-100734308

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.564T>C; p.I188I; 14:100734308-100734308

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.564T>C; p.I188I; 14:100734308-100734308

 breastcarcinomaSubstitution - coding silent

c.232G>T; p.D78Y; 14:100729036-100729036

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.945C>T; p.S315S; 14:100734689-100734689

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1092C>A; p.I364I; 14:100734836-100734836

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.474delC; p.P160fs*50; 14:100734218-100734218

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.140C>A; p.P47H; 14:100728944-100728944

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.140C>A; p.P47H; 14:100728944-100728944

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.140C>A; p.P47H; 14:100728944-100728944

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.140C>A; p.P47H; 14:100728944-100728944

 large_intestine; coloncarcinomaSubstitution - Missense

c.140C>A; p.P47H; 14:100728944-100728944

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.268C>T; p.R90W; 14:100732047-100732047

 oesophaguscarcinomaSubstitution - Missense

c.483C>T; p.G161G; 14:100734227-100734227

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.418C>A; p.H140N; 14:100734162-100734162

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.993G>A; p.E331E; 14:100734737-100734737

 pancreascarcinomaSubstitution - coding silent

c.410C>T; p.P137L; 14:100734154-100734154

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.571G>A; p.D191N; 14:100734315-100734315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.30C>T; p.V10V; 14:100727098-100727098

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.624G>A; p.P208P; 14:100734368-100734368

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1013G>A; p.R338H; 14:100734757-100734757

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1013G>A; p.R338H; 14:100734757-100734757

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1066G>A; p.G356R; 14:100734810-100734810

 breastcarcinomaSubstitution - Missense

c.754C>T; p.P252S; 14:100734498-100734498

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.94C>T; p.P32S; 14:100728422-100728422

 skinmalignant_melanomaSubstitution - Missense

c.42G>A; p.L14L; 14:100727110-100727110

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.889C>T; p.P297S; 14:100734633-100734633

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1071G>A; p.E357E; 14:100734815-100734815

 skinmalignant_melanomaSubstitution - coding silent

c.743G>A; p.R248H; 14:100734487-100734487

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.231C>G; p.T77T; 14:100729035-100729035

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - coding silent

c.538G>A; p.E180K; 14:100734282-100734282

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1041G>T; p.K347N; 14:100734785-100734785

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.292G>A; p.A98T; 14:100732071-100732071

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.934G>A; p.V312M; 14:100734678-100734678

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.934G>A; p.V312M; 14:100734678-100734678

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.998G>A; p.W333*; 14:100734742-100734742

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.973G>A; p.V325I; 14:100734717-100734717

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.334G>A; p.E112K; 14:100732113-100732113

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.746C>T; p.A249V; 14:100734490-100734490

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.746C>T; p.A249V; 14:100734490-100734490

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.746C>T; p.A249V; 14:100734490-100734490

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.483C>G; p.G161G; 14:100734227-100734227

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.118G>T; p.D40Y; 14:100728446-100728446

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.972C>T; p.I324I; 14:100734716-100734716

 skinmalignant_melanomaSubstitution - coding silent

c.1140C>T; p.D380D; 14:100734884-100734884

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.897C>A; p.L299L; 14:100734641-100734641

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.570C>T; p.G190G; 14:100734314-100734314

 breastcarcinomaSubstitution - coding silent

c.1140C>T; p.D380D; 14:100734884-100734884

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.491G>T; p.G164V; 14:100734235-100734235

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.469C>T; p.L157L; 14:100734213-100734213

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1107C>T; p.I369I; 14:100734851-100734851

 skinmalignant_melanomaSubstitution - coding silent

c.779G>A; p.S260N; 14:100734523-100734523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421G>A; p.G141R; 14:100734165-100734165

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1093T>G; p.F365V; 14:100734837-100734837

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.526C>T; p.P176S; 14:100734270-100734270

 skinmalignant_melanomaSubstitution - Missense

c.249_250ins45; p.E83_L84insHRAWRLG*; 14:100729053-100729054

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningInsertion - In frame

c.731G>T; p.C244F; 14:100734475-100734475

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.26G>A; p.R9H; 14:100727094-100727094

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.300C>T; p.N100N; 14:100732079-100732079

 breastcarcinomaSubstitution - coding silent

c.36G>T; p.L12F; 14:100727104-100727104

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1137C>T; p.G379G; 14:100734881-100734881

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1137C>T; p.G379G; 14:100734881-100734881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.839C>T; p.P280L; 14:100734583-100734583

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.294C>T; p.A98A; 14:100732073-100732073

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.848G>A; p.R283H; 14:100734592-100734592

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.623C>T; p.P208L; 14:100734367-100734367

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.933C>T; p.G311G; 14:100734677-100734677

 pancreascarcinomaSubstitution - coding silent

c.403G>A; p.G135S; 14:100732182-100732182

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.403G>A; p.G135S; 14:100732182-100732182

 skinmalignant_melanomaSubstitution - Missense

c.471G>A; p.L157L; 14:100734215-100734215

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.532C>A; p.P178T; 14:100734276-100734276

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.449G>A; p.R150Q; 14:100734193-100734193

 pancreascarcinomaSubstitution - Missense

c.828G>A; p.P276P; 14:100734572-100734572

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1064G>A; p.S355N; 14:100734808-100734808

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.326G>T; p.G109V; 14:100732105-100732105

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.592G>A; p.A198T; 14:100734336-100734336

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.456C>T; p.S152S; 14:100734200-100734200

 skinmalignant_melanomaSubstitution - coding silent

c.186C>A; p.G62G; 14:100728990-100728990

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.547G>A; p.G183S; 14:100734291-100734291

 pancreascarcinomaSubstitution - Missense

c.1098C>T; p.P366P; 14:100734842-100734842

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1067G>A; p.G356E; 14:100734811-100734811

 skin; neckmalignant_melanomaSubstitution - Missense

c.1080C>T; p.A360A; 14:100734824-100734824

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.342C>A; p.S114S; 14:100732121-100732121

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.594C>T; p.A198A; 14:100734338-100734338

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.234C>T; p.D78D; 14:100729038-100729038

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.551T>A; p.V184D; 14:100734295-100734295

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.270G>A; p.R90R; 14:100732049-100732049

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.583C>T; p.R195W; 14:100734327-100734327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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