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

Basic Information

Gene ID

112464

Name

PRKCDBP

Synonymous

protein kinase C, delta binding protein;PRKCDBP;protein kinase C, delta binding protein

Definition

protein kinase C delta-binding protein|sdr-related gene product that binds to c-kinase|serum deprivation response factor-related gene product that binds to C-kinase

Position

11p15.4

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 0.10.

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.409G>A; p.A137T; 11:6319540-6319540

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.409G>A; p.A137T; 11:6319540-6319540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.384+10C>T; p.?; 11:6320083-6320083

 prostatecarcinomaUnknown

c.200T>A; p.L67Q; 11:6320277-6320277

 breastcarcinomaSubstitution - Missense

c.53delG; p.G18fs*6; 11:6320424-6320424

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.25G>A; p.G9R; 11:6320452-6320452

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.565C>A; p.L189I; 11:6319384-6319384

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.342G>A; p.G114G; 11:6320135-6320135

 breastcarcinomaSubstitution - coding silent

c.539G>A; p.R180H; 11:6319410-6319410

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.539G>A; p.R180H; 11:6319410-6319410

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.581C>T; p.S194L; 11:6319368-6319368

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.581C>T; p.S194L; 11:6319368-6319368

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.581C>T; p.S194L; 11:6319368-6319368

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.608C>T; p.P203L; 11:6319341-6319341

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.34C>T; p.P12S; 11:6320443-6320443

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.681G>A; p.A227A; 11:6319268-6319268

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.106C>T; p.L36L; 11:6320371-6320371

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.432C>A; p.P144P; 11:6319517-6319517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.389_391delAGG; p.E130delE; 11:6319558-6319560

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.654T>A; p.A218A; 11:6319295-6319295

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.654T>A; p.A218A; 11:6319295-6319295

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.654T>A; p.A218A; 11:6319295-6319295

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.654T>A; p.A218A; 11:6319295-6319295

 thyroidother; neoplasmSubstitution - coding silent

c.456G>A; p.E152E; 11:6319493-6319493

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.606A>T; p.P202P; 11:6319343-6319343

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.139G>A; p.A47T; 11:6320338-6320338

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.680C>T; p.A227V; 11:6319269-6319269

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.438C>G; p.G146G; 11:6319511-6319511

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.689C>A; p.P230H; 11:6319260-6319260

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.618G>A; p.P206P; 11:6319331-6319331

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.367C>T; p.H123Y; 11:6320110-6320110

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.466G>A; p.E156K; 11:6319483-6319483

 skinmalignant_melanomaSubstitution - Missense

c.720C>T; p.T240T; 11:6319229-6319229

 breastcarcinomaSubstitution - coding silent

c.473T>C; p.L158P; 11:6319476-6319476

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.473T>C; p.L158P; 11:6319476-6319476

 breastcarcinomaSubstitution - Missense

c.473T>C; p.L158P; 11:6319476-6319476

 thyroidother; neoplasmSubstitution - Missense

c.473T>C; p.L158P; 11:6319476-6319476

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.437G>T; p.G146V; 11:6319512-6319512

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.448C>T; p.Q150*; 11:6319501-6319501

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

')