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

Basic Information

Gene ID

7268

Name

TTC4

Synonymous

tetratricopeptide repeat domain 4;TTC4;tetratricopeptide repeat domain 4

Definition

TPR repeat protein 4|tetratricopeptide repeat protein 4

Position

1p32.3

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

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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 0.05.

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.303A>G; p.S101S; 1:54717565-54717565

 breastcarcinomaSubstitution - coding silent

c.780C>T; p.N260N; 1:54731584-54731584

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.384C>A; p.Y128*; 1:54717646-54717646

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.367C>T; p.R123W; 1:54717629-54717629

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.843G>A; p.L281L; 1:54731647-54731647

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.628T>C; p.L210L; 1:54728379-54728379

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.654G>C; p.Q218H; 1:54728405-54728405

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.572G>C; p.R191T; 1:54722777-54722777

 breastcarcinomaSubstitution - Missense

c.761A>T; p.D254V; 1:54731565-54731565

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.806A>T; p.D269V; 1:54731610-54731610

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.315C>G; p.G105G; 1:54717577-54717577

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.802C>T; p.L268L; 1:54731606-54731606

 skinmalignant_melanomaSubstitution - coding silent

c.739G>A; p.G247S; 1:54731543-54731543

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.669_670delCC; p.Q224fs*5; 1:54728420-54728421

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaDeletion - Frameshift

c.96G>T; p.E32D; 1:54716004-54716004

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.221C>T; p.S74F; 1:54716709-54716709

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.401G>A; p.R134H; 1:54721172-54721172

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.197C>T; p.S66L; 1:54716685-54716685

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.251A>G; p.D84G; 1:54717513-54717513

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.934C>T; p.P312S; 1:54733666-54733666

 skinmalignant_melanomaSubstitution - Missense

c.641A>C; p.K214T; 1:54728392-54728392

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.668T>C; p.L223P; 1:54728419-54728419

 breastcarcinomaSubstitution - Missense

c.121A>G; p.K41E; 1:54716609-54716609

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.818G>T; p.R273M; 1:54731622-54731622

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.498C>T; p.H166H; 1:54722703-54722703

 skinmalignant_melanomaSubstitution - coding silent

c.1132C>T; p.L378F; 1:54741481-54741481

 skinmalignant_melanomaSubstitution - Missense

c.1123A>C; p.K375Q; 1:54741472-54741472

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.469+1G>A; p.?; 1:54721241-54721241

 livercarcinomaUnknown

c.505G>A; p.E169K; 1:54722710-54722710

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.505G>A; p.E169K; 1:54722710-54722710

 skinmalignant_melanomaSubstitution - Missense

c.764G>T; p.G255V; 1:54731568-54731568

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.469+1G>T; p.?; 1:54721241-54721241

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.118G>C; p.E40Q; 1:54716606-54716606

 breastcarcinomaSubstitution - Missense

c.822G>A; p.L274L; 1:54731626-54731626

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.141G>A; p.S47S; 1:54716629-54716629

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.288G>C; p.K96N; 1:54717550-54717550

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.504C>T; p.A168A; 1:54722709-54722709

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.504C>T; p.A168A; 1:54722709-54722709

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.504C>T; p.A168A; 1:54722709-54722709

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.504C>T; p.A168A; 1:54722709-54722709

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.828G>T; p.W276C; 1:54731632-54731632

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.809G>A; p.G270D; 1:54731613-54731613

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.682-10T>C; p.?; 1:54731476-54731476

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.639G>C; p.K213N; 1:54728390-54728390

 breastcarcinomaSubstitution - Missense

c.639G>C; p.K213N; 1:54728390-54728390

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.139T>A; p.S47T; 1:54716627-54716627

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.425C>T; p.A142V; 1:54721196-54721196

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.701C>T; p.S234L; 1:54731505-54731505

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1153C>G; p.Q385E; 1:54741502-54741502

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.595C>T; p.R199*; 1:54728346-54728346

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IISubstitution - Nonsense

c.400C>T; p.R134C; 1:54721171-54721171

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.400C>T; p.R134C; 1:54721171-54721171

 skinmalignant_melanomaSubstitution - Missense

c.400C>T; p.R134C; 1:54721171-54721171

 skinmalignant_melanomaSubstitution - Missense

c.404C>A; p.S135Y; 1:54721175-54721175

 pancreascarcinomaSubstitution - Missense

c.420G>A; p.V140V; 1:54721191-54721191

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

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