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

Basic Information

Gene ID

25898

Name

RCHY1

Synonymous

ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase;RCHY1;ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase

Definition

CH-rich interacting match with PLAG1|E3 ubiquitin-protein ligase Pirh2|RING finger and CHY zinc finger domain-containing protein 1|RING finger protein 199|androgen-receptor N-terminal-interacting protein|p53-induced protein with a RING-H2 domain|zinc fing

Position

4q21.1

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

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

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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 0.24.

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.661C>A; p.L221I; 4:75482663-75482663

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.483C>T; p.V161V; 4:75491750-75491750

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.585G>T; p.R195S; 4:75490653-75490653

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.225T>G; p.C75W; 4:75508921-75508921

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.292_294delAAG; p.K98delK; 4:75508852-75508854

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.606T>C; p.D202D; 4:75490632-75490632

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.565T>G; p.S189A; 4:75490673-75490673

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.161G>A; p.R54H; 4:75509226-75509226

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.161G>A; p.R54H; 4:75509226-75509226

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.200A>C; p.K67T; 4:75509187-75509187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.661C>G; p.L221V; 4:75482663-75482663

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.545G>A; p.R182K; 4:75490693-75490693

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.315_316delTG; p.C105fs*4; 4:75508830-75508831

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.53G>A; p.R18Q; 4:75514234-75514234

 breastcarcinomaSubstitution - Missense

c.640C>G; p.Q214E; 4:75490598-75490598

 breastcarcinomaSubstitution - Missense

c.682C>T; p.R228*; 4:75482642-75482642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.436C>A; p.P146T; 4:75491903-75491903

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.642G>C; p.Q214H; 4:75490596-75490596

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.202delA; p.I68fs*53; 4:75509185-75509185

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.569C>T; p.A190V; 4:75490669-75490669

 pancreascarcinomaSubstitution - Missense

c.569C>T; p.A190V; 4:75490669-75490669

 pancreasNSSubstitution - Missense

c.681A>G; p.G227G; 4:75482643-75482643

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.21A>G; p.E7E; 4:75514266-75514266

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.238A>G; p.T80A; 4:75508908-75508908

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.709G>A; p.G237S; 4:75482615-75482615

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.151C>T; p.Q51*; 4:75509236-75509236

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.229G>T; p.E77*; 4:75508917-75508917

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.348T>G; p.F116L; 4:75494158-75494158

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.250G>T; p.E84*; 4:75508896-75508896

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.267A>G; p.I89M; 4:75508879-75508879

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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