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

Basic Information

Gene ID

375

Name

ARF1

Synonymous

ADP-ribosylation factor 1;ARF1;ADP-ribosylation factor 1

Definition

-

Position

1q42

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 0.06.

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.236G>A; p.R79H; 1:228097429-228097429

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.373G>A; p.A125T; 1:228097704-228097704

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.311G>A; p.R104H; 1:228097642-228097642

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.415A>G; p.I139V; 1:228097882-228097882

 skinmalignant_melanomaSubstitution - Missense

c.156C>T; p.N52N; 1:228097349-228097349

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.104A>G; p.Y35C; 1:228097218-228097218

 stomachadenocarcinomaSubstitution - Missense

c.42_43insA; p.E17fs*22; 1:228097156-228097157

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.271G>A; p.V91M; 1:228097602-228097602

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.453G>A; p.R151R; 1:228097920-228097920

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.323T>C; p.M108T; 1:228097654-228097654

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.453G>A; p.R151R; 1:228097920-228097920

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.486C>T; p.S162S; 1:228097953-228097953

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.486C>T; p.S162S; 1:228097953-228097953

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.364C>T; p.L122L; 1:228097695-228097695

 skinmalignant_melanomaSubstitution - coding silent

c.337G>A; p.E113K; 1:228097668-228097668

 breastcarcinomaSubstitution - Missense

c.337G>A; p.E113K; 1:228097668-228097668

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.416T>C; p.I139T; 1:228097883-228097883

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.141C>T; p.P47P; 1:228097255-228097255

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.427C>A; p.L143M; 1:228097894-228097894

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.265A>G; p.I89V; 1:228097596-228097596

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.D67N; 1:228097392-228097392

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.12C>T; p.I4I; 1:228097126-228097126

 skinmalignant_melanomaSubstitution - coding silent

c.182T>G; p.I61S; 1:228097375-228097375

 livercarcinomaSubstitution - Missense

c.11T>G; p.I4S; 1:228097125-228097125

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.107A>C; p.K36T; 1:228097221-228097221

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.409G>A; p.A137T; 1:228097876-228097876

 breastcarcinomaSubstitution - Missense

c.407C>T; p.A136V; 1:228097874-228097874

 livercarcinomaSubstitution - Missense

c.407C>T; p.A136V; 1:228097874-228097874

 livercarcinomaSubstitution - Missense

c.407C>T; p.A136V; 1:228097874-228097874

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.73C>A; p.L25M; 1:228097187-228097187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.12C>G; p.I4M; 1:228097126-228097126

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.504A>G; p.E168E; 1:228097971-228097971

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.55C>T; p.R19C; 1:228097169-228097169

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.181A>C; p.I61L; 1:228097374-228097374

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.526C>G; p.Q176E; 1:228097993-228097993

 livercarcinomaSubstitution - Missense

c.526C>G; p.Q176E; 1:228097993-228097993

 livercarcinomaSubstitution - Missense

c.351G>A; p.R117R; 1:228097682-228097682

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.102C>G; p.L34L; 1:228097216-228097216

 breastcarcinomaSubstitution - coding silent

c.489C>T; p.G163G; 1:228097956-228097956

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.165C>T; p.T55T; 1:228097358-228097358

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.446G>A; p.R149H; 1:228097913-228097913

 breastcarcinomaSubstitution - Missense

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