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

Basic Information

Gene ID

84816

Name

RTN4IP1

Synonymous

reticulon 4 interacting protein 1;RTN4IP1;reticulon 4 interacting protein 1

Definition

NOGO-interacting mitochondrial protein|reticulon-4-interacting protein 1, mitochondrial

Position

6q21

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 0.16.

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.623T>C; p.V208A; 6:106602920-106602920

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.608G>T; p.C203F; 6:106619214-106619214

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1182T>C; p.N394N; 6:106572005-106572005

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1112C>G; p.P371R; 6:106572075-106572075

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.471G>T; p.E157D; 6:106621449-106621449

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.62G>A; p.R21K; 6:106628960-106628960

 breastcarcinomaSubstitution - Missense

c.1088G>T; p.R363L; 6:106572099-106572099

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.806C>T; p.P269L; 6:106592164-106592164

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.221T>C; p.V74A; 6:106628801-106628801

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.529C>G; p.Q177E; 6:106619293-106619293

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1140G>A; p.L380L; 6:106572047-106572047

 skinmalignant_melanomaSubstitution - coding silent

c.940G>A; p.A314T; 6:106587729-106587729

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1033G>C; p.A345P; 6:106583378-106583378

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.667C>G; p.Q223E; 6:106602876-106602876

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1162C>T; p.R388*; 6:106572025-106572025

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1021G>A; p.A341T; 6:106583390-106583390

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1021G>A; p.A341T; 6:106583390-106583390

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.928C>T; p.R310*; 6:106587741-106587741

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.844G>C; p.E282Q; 6:106587825-106587825

 ovaryother; neoplasmSubstitution - Missense

c.844G>C; p.E282Q; 6:106587825-106587825

 ovaryother; neoplasmSubstitution - Missense

c.695T>C; p.V232A; 6:106592275-106592275

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.82C>T; p.P28S; 6:106628940-106628940

 skin; neckmalignant_melanomaSubstitution - Missense

c.424G>T; p.E142*; 6:106622820-106622820

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.637G>A; p.A213T; 6:106602906-106602906

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1029C>T; p.F343F; 6:106583382-106583382

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.853G>A; p.A285T; 6:106587816-106587816

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1016G>A; p.R339H; 6:106583395-106583395

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.836G>T; p.G279V; 6:106587833-106587833

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1110T>C; p.F370F; 6:106572077-106572077

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.589G>T; p.G197C; 6:106619233-106619233

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1180A>C; p.N394H; 6:106572007-106572007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.646G>A; p.G216R; 6:106602897-106602897

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.183G>T; p.Q61H; 6:106628839-106628839

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.469G>T; p.E157*; 6:106621451-106621451

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.746C>T; p.A249V; 6:106592224-106592224

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.797C>T; p.S266F; 6:106592173-106592173

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.797C>T; p.S266F; 6:106592173-106592173

 skinmalignant_melanomaSubstitution - Missense

c.718G>T; p.A240S; 6:106592252-106592252

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.458G>A; p.G153D; 6:106621462-106621462

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.238G>A; p.A80T; 6:106628784-106628784

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1009C>T; p.H337Y; 6:106583402-106583402

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.415C>T; p.P139S; 6:106622829-106622829

 oesophaguscarcinomaSubstitution - Missense

c.947G>A; p.G316D; 6:106587722-106587722

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1159G>A; p.A387T; 6:106572028-106572028

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.307C>T; p.R103C; 6:106622937-106622937

 eye; uveal_tractmalignant_melanoma; spindleSubstitution - Missense

c.142A>G; p.I48V; 6:106628880-106628880

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.429C>G; p.V143V; 6:106621491-106621491

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.91_100del10; p.R31fs*14; 6:106628922-106628931

 breastcarcinomaDeletion - Frameshift

c.1165G>T; p.G389*; 6:106572022-106572022

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.279T>C; p.G93G; 6:106622965-106622965

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.279T>C; p.G93G; 6:106622965-106622965

 breastcarcinomaSubstitution - coding silent

c.721A>G; p.S241G; 6:106592249-106592249

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.789G>T; p.Q263H; 6:106592181-106592181

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.363G>T; p.R121R; 6:106622881-106622881

 breastcarcinomaSubstitution - coding silent

c.511A>C; p.K171Q; 6:106619311-106619311

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.867C>G; p.L289L; 6:106587802-106587802

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1163G>A; p.R388Q; 6:106572024-106572024

 skinmalignant_melanomaSubstitution - Missense

c.1163G>A; p.R388Q; 6:106572024-106572024

 breastcarcinomaSubstitution - Missense

c.220G>T; p.V74F; 6:106628802-106628802

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.870G>T; p.K290N; 6:106587799-106587799

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.937A>T; p.I313L; 6:106587732-106587732

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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