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

Basic Information

Gene ID

10550

Name

ARL6IP5

Synonymous

ADP-ribosylation factor-like 6 interacting protein 5;ARL6IP5;ADP-ribosylation factor-like 6 interacting protein 5

Definition

ADP-ribosylation factor-like protein 6-interacting protein 5|ADP-ribosylation-like factor 6 interacting protein 5|ARL-6-interacting protein 5|JM5|PRA1 domain family 3|PRA1 family protein 3|aip-5|cytoskeleton related vitamin A responsive protein|cytoskelet

Position

3p14

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 0.00.

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.333C>T; p.F111F; 3:69101995-69101995

 skinmalignant_melanomaSubstitution - coding silent

c.22C>T; p.L8F; 3:69085069-69085069

 thyroidother; neoplasmSubstitution - Missense

c.286C>T; p.R96C; 3:69101948-69101948

 prostatecarcinomaSubstitution - Missense

c.424C>T; p.R142W; 3:69104493-69104493

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.424C>T; p.R142W; 3:69104493-69104493

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.401T>C; p.F134S; 3:69104470-69104470

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.339C>A; p.I113I; 3:69102001-69102001

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.325A>T; p.S109C; 3:69101987-69101987

 skinmalignant_melanomaSubstitution - Missense

c.555A>G; p.K185K; 3:69104624-69104624

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.162G>A; p.M54I; 3:69085209-69085209

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.551G>A; p.S184N; 3:69104620-69104620

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.317T>C; p.M106T; 3:69101979-69101979

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.187C>T; p.P63S; 3:69101849-69101849

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.187C>T; p.P63S; 3:69101849-69101849

 skinmalignant_melanomaSubstitution - Missense

c.176+1_176+2insT; p.?; 3:69085224-69085225

 breastcarcinomaUnknown

c.453A>C; p.K151N; 3:69104522-69104522

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.287G>A; p.R96H; 3:69101949-69101949

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.447G>T; p.E149D; 3:69104516-69104516

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.319T>C; p.L107L; 3:69101981-69101981

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.520G>T; p.E174*; 3:69104589-69104589

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.417G>A; p.L139L; 3:69104486-69104486

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.413C>T; p.S138L; 3:69104482-69104482

 NSmalignant_melanomaSubstitution - Missense

c.413C>T; p.S138L; 3:69104482-69104482

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4G>A; p.D2N; 3:69085051-69085051

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.4G>A; p.D2N; 3:69085051-69085051

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.413C>T; p.S138L; 3:69104482-69104482

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.413C>T; p.S138L; 3:69104482-69104482

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.483G>A; p.P161P; 3:69104552-69104552

 skinmalignant_melanomaSubstitution - coding silent

c.303C>T; p.F101F; 3:69101965-69101965

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.202C>A; p.L68M; 3:69101864-69101864

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.27C>T; p.R9R; 3:69085074-69085074

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

')