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

Basic Information

Gene ID

11228

Name

RASSF8

Synonymous

Ras association (RalGDS/AF-6) domain family (N-terminal) member 8;RASSF8;Ras association (RalGDS/AF-6) domain family (N-terminal) member 8

Definition

carcinoma-associated protein HOJ-1|ras association domain-containing protein 8

Position

12p12.3

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 0.11.

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.340C>A; p.P114T; 12:26064734-26064734

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.610G>C; p.E204Q; 12:26065004-26065004

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.9T>C; p.L3L; 12:26055352-26055352

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.203A>C; p.Q68P; 12:26064597-26064597

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.726T>A; p.D242E; 12:26065120-26065120

 pancreascarcinomaSubstitution - Missense

c.726T>A; p.D242E; 12:26065120-26065120

 pancreascarcinomaSubstitution - Missense

c.726T>A; p.D242E; 12:26065120-26065120

 pancreascarcinomaSubstitution - Missense

c.644G>T; p.R215I; 12:26065038-26065038

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.670G>C; p.E224Q; 12:26065064-26065064

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.885C>T; p.I295I; 12:26065279-26065279

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.885C>T; p.I295I; 12:26065279-26065279

 skinmalignant_melanomaSubstitution - coding silent

c.217G>A; p.V73M; 12:26064611-26064611

 skinmalignant_melanomaSubstitution - Missense

c.390G>T; p.L130L; 12:26064784-26064784

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.621C>T; p.V207V; 12:26065015-26065015

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.403G>A; p.G135S; 12:26064797-26064797

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.97G>A; p.A33T; 12:26055440-26055440

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.400G>T; p.G134*; 12:26064794-26064794

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.375G>T; p.P125P; 12:26064769-26064769

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.868G>C; p.E290Q; 12:26065262-26065262

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.232C>T; p.R78*; 12:26064626-26064626

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.648C>T; p.N216N; 12:26065042-26065042

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.648C>T; p.N216N; 12:26065042-26065042

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.809_810GT>AA; p.S270K; 12:26065203-26065204

 skinmalignant_melanomaSubstitution - Missense

c.622C>T; p.R208C; 12:26065016-26065016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.183A>C; p.I61I; 12:26064577-26064577

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.80T>A; p.V27D; 12:26055423-26055423

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.404G>C; p.G135A; 12:26064798-26064798

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.245C>T; p.P82L; 12:26064639-26064639

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1137_1138GG>AA; p.G380R; 12:26067712-26067713

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1111G>C; p.E371Q; 12:26067686-26067686

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1111G>C; p.E371Q; 12:26067686-26067686

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.400_401GG>TT; p.G134>?; 12:26064794-26064795

 lungcarcinoma; small_cell_carcinomaComplex

c.283C>T; p.R95*; 12:26064677-26064677

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.870G>T; p.E290D; 12:26065264-26065264

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1174G>T; p.D392Y; 12:26079068-26079068

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.568G>A; p.E190K; 12:26064962-26064962

 skinmalignant_melanomaSubstitution - Missense

c.777G>A; p.K259K; 12:26065171-26065171

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1095G>A; p.A365A; 12:26067670-26067670

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1095G>A; p.A365A; 12:26067670-26067670

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.623G>A; p.R208H; 12:26065017-26065017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.477C>T; p.C159C; 12:26064871-26064871

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.345G>A; p.Q115Q; 12:26064739-26064739

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.302T>C; p.L101S; 12:26064696-26064696

 skinmalignant_melanomaSubstitution - Missense

c.240T>C; p.T80T; 12:26064634-26064634

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.109_110delAC; p.T37fs*13; 12:26064503-26064504

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.319C>T; p.P107S; 12:26064713-26064713

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.319C>T; p.P107S; 12:26064713-26064713

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.401G>T; p.G134V; 12:26064795-26064795

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.164C>T; p.P55L; 12:26064558-26064558

 skinmalignant_melanomaSubstitution - Missense

c.523G>A; p.E175K; 12:26064917-26064917

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.945C>A; p.G315G; 12:26065339-26065339

 livercarcinomaSubstitution - coding silent

c.246G>A; p.P82P; 12:26064640-26064640

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.246G>A; p.P82P; 12:26064640-26064640

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.435A>C; p.K145N; 12:26064829-26064829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.284G>A; p.R95Q; 12:26064678-26064678

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.985C>T; p.R329C; 12:26065379-26065379

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.985C>T; p.R329C; 12:26065379-26065379

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.511C>T; p.R171C; 12:26064905-26064905

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.107G>C; p.R36P; 12:26064501-26064501

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1033C>T; p.R345W; 12:26067608-26067608

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1056C>T; p.F352F; 12:26067631-26067631

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.87C>T; p.A29A; 12:26055430-26055430

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.81C>T; p.V27V; 12:26055424-26055424

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.256G>A; p.E86K; 12:26064650-26064650

 skinmalignant_melanomaSubstitution - Missense

c.145A>T; p.T49S; 12:26064539-26064539

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

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