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

Basic Information

Gene ID

283518

Name

KCNRG

Synonymous

potassium channel regulator;KCNRG;potassium channel regulator

Definition

potassium channel regulatory protein|putative potassium channel regulatory protein

Position

13q14.2

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 0.04.

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.780G>C; p.E260D; 13:50020415-50020415

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.65C>G; p.T22R; 13:50015558-50015558

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.686G>T; p.R229I; 13:50020321-50020321

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.33G>C; p.V11V; 13:50015526-50015526

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.31G>A; p.V11M; 13:50015524-50015524

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.33G>C; p.V11V; 13:50015526-50015526

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.758C>A; p.T253K; 13:50020393-50020393

 thyroidother; neoplasmSubstitution - Missense

c.739A>T; p.S247C; 13:50020374-50020374

 NSmalignant_melanomaSubstitution - Missense

c.739A>T; p.S247C; 13:50020374-50020374

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.176G>T; p.S59I; 13:50015669-50015669

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.592A>C; p.K198Q; 13:50020227-50020227

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.592A>C; p.K198Q; 13:50020227-50020227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.619G>A; p.G207R; 13:50020254-50020254

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.113G>A; p.R38K; 13:50015606-50015606

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.779A>G; p.E260G; 13:50020414-50020414

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.24T>C; p.T8T; 13:50015517-50015517

 pancreascarcinomaSubstitution - coding silent

c.24T>C; p.T8T; 13:50015517-50015517

 pancreascarcinomaSubstitution - coding silent

c.45A>G; p.I15M; 13:50015538-50015538

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.212T>C; p.L71S; 13:50015705-50015705

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>G; p.L91R; 13:50015765-50015765

 skinmalignant_melanomaSubstitution - Missense

c.818G>T; p.*273L; 13:50020453-50020453

 large_intestine; caecumcarcinoma; adenocarcinomaNonstop extension

c.285T>A; p.V95V; 13:50015778-50015778

 skinmalignant_melanomaSubstitution - coding silent

c.211T>G; p.L71V; 13:50015704-50015704

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.396A>G; p.T132T; 13:50015889-50015889

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.122A>C; p.E41A; 13:50015615-50015615

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.103T>C; p.L35L; 13:50015596-50015596

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.97C>T; p.R33C; 13:50015590-50015590

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.596C>A; p.P199H; 13:50020231-50020231

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.498G>A; p.L166L; 13:50015991-50015991

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.545C>G; p.S182C; 13:50016038-50016038

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.313C>A; p.P105T; 13:50015806-50015806

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.275G>A; p.R92H; 13:50015768-50015768

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.756C>T; p.I252I; 13:50020391-50020391

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.556_567del12; p.D187_T190delDNQT; 13:50016049-50016060

 bone; scapulachondrosarcomaDeletion - In frame

c.187G>T; p.D63Y; 13:50015680-50015680

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.813G>T; p.K271N; 13:50020448-50020448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.671A>G; p.H224R; 13:50020306-50020306

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.483G>T; p.M161I; 13:50015976-50015976

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.350delG; p.N118fs*19; 13:50015843-50015843

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - Frameshift

c.578+1G>A; p.?; 13:50016072-50016072

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.478C>T; p.Q160*; 13:50015971-50015971

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.622A>C; p.T208P; 13:50020257-50020257

 livercarcinomaSubstitution - Missense

c.622A>C; p.T208P; 13:50020257-50020257

 livercarcinomaSubstitution - Missense

c.646G>C; p.D216H; 13:50020281-50020281

 breastcarcinomaSubstitution - Missense

c.330G>A; p.V110V; 13:50015823-50015823

 skinmalignant_melanomaSubstitution - coding silent

c.508A>G; p.R170G; 13:50016001-50016001

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.426G>T; p.V142V; 13:50015919-50015919

 livercarcinomaSubstitution - coding silent

c.426G>T; p.V142V; 13:50015919-50015919

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.197G>A; p.R66K; 13:50015690-50015690

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.29A>G; p.N10S; 13:50015522-50015522

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.274C>T; p.R92C; 13:50015767-50015767

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.274C>T; p.R92C; 13:50015767-50015767

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.274C>T; p.R92C; 13:50015767-50015767

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

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