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

Basic Information

Gene ID

9368

Name

SLC9A3R1

Synonymous

solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1;SLC9A3R1;solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1

Definition

Na(+)/H(+) exchange regulatory cofactor NHE-RF1|Na+/H+ exchange regulatory co-factor|ezrin-radixin-moesin binding phosphoprotein-50|ezrin-radixin-moesin-binding phosphoprotein 50|regulatory cofactor of Na(+)/H(+) exchanger|solute carrier family 9 (sodium/

Position

17q25.1

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 0.14.

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.179T>G; p.V60G; 17:74749025-74749025

 livercarcinomaSubstitution - Missense

c.930G>A; p.A310A; 17:74768509-74768509

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.415G>C; p.E139Q; 17:74749261-74749261

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.951C>T; p.S317S; 17:74768530-74768530

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.951C>T; p.S317S; 17:74768530-74768530

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.905G>C; p.S302T; 17:74768484-74768484

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.799-1G>A; p.?; 17:74768146-74768146

 pancreascarcinomaUnknown

c.1073T>C; p.L358P; 17:74768652-74768652

 breastcarcinomaSubstitution - Missense

c.799-1G>A; p.?; 17:74768146-74768146

 pancreascarcinoma; ductal_carcinomaUnknown

c.301A>T; p.K101*; 17:74749147-74749147

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.560C>G; p.P187R; 17:74762130-74762130

 breastcarcinomaSubstitution - Missense

c.940A>G; p.T314A; 17:74768519-74768519

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.767C>A; p.P256H; 17:74766945-74766945

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.170A>G; p.D57G; 17:74749016-74749016

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.651C>A; p.S217S; 17:74763414-74763414

 thyroidcarcinomaSubstitution - coding silent

c.1057G>A; p.E353K; 17:74768636-74768636

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.454C>T; p.P152S; 17:74762024-74762024

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.501C>T; p.N167N; 17:74762071-74762071

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.688G>A; p.V230M; 17:74763451-74763451

 skinmalignant_melanomaSubstitution - Missense

c.112T>C; p.Y38H; 17:74748958-74748958

 breastcarcinomaSubstitution - Missense

c.782A>G; p.N261S; 17:74766960-74766960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.787G>T; p.E263*; 17:74766965-74766965

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.666C>T; p.G222G; 17:74763429-74763429

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.371C>T; p.A124V; 17:74749217-74749217

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.886G>A; p.E296K; 17:74768234-74768234

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.818T>C; p.L273P; 17:74768166-74768166

 livercarcinomaSubstitution - Missense

c.657C>T; p.I219I; 17:74763420-74763420

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.267G>A; p.L89L; 17:74749113-74749113

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1030C>T; p.P344S; 17:74768609-74768609

 skinmalignant_melanomaSubstitution - Missense

c.548A>T; p.D183V; 17:74762118-74762118

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535A>G; p.I179V; 17:74762105-74762105

 stomachadenocarcinomaSubstitution - Missense

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