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

Basic Information

Gene ID

80013

Name

FAM188A

Synonymous

family with sequence similarity 188, member A;FAM188A;family with sequence similarity 188, member A

Definition

CARD-containing protein|caspase recruitment domain containing pro-apoptotic protein|dermal papilla-derived protein 5|protein FAM188A

Position

10p13

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 0.06.

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.899C>T; p.A300V; 10:15796156-15796156

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1021C>T; p.P341S; 10:15789254-15789254

 skin; extremitymalignant_melanomaSubstitution - Missense

c.944A>G; p.Y315C; 10:15796111-15796111

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.871T>A; p.F291I; 10:15816846-15816846

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222G>A; p.W74*; 10:15843225-15843225

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.944A>T; p.Y315F; 10:15796111-15796111

 skinmalignant_melanomaSubstitution - Missense

c.206C>T; p.S69L; 10:15843241-15843241

 skinmalignant_melanomaSubstitution - Missense

c.206C>T; p.S69L; 10:15843241-15843241

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.935T>G; p.F312C; 10:15796120-15796120

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.831C>T; p.F277F; 10:15816886-15816886

 skinmalignant_melanomaSubstitution - coding silent

c.71C>T; p.T24I; 10:15860229-15860229

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.780G>A; p.M260I; 10:15821677-15821677

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.204T>A; p.S68S; 10:15843243-15843243

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.204T>A; p.S68S; 10:15843243-15843243

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.940A>G; p.T314A; 10:15796115-15796115

 breastcarcinomaSubstitution - Missense

c.671T>A; p.L224Q; 10:15833689-15833689

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.643C>G; p.H215D; 10:15834550-15834550

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.308G>T; p.G103V; 10:15841527-15841527

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.74T>C; p.I25T; 10:15860226-15860226

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.850A>G; p.S284G; 10:15816867-15816867

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.624G>A; p.L208L; 10:15834569-15834569

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.850A>G; p.S284G; 10:15816867-15816867

 stomachadenocarcinomaSubstitution - Missense

c.1196A>G; p.Y399C; 10:15779134-15779134

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.111A>G; p.E37E; 10:15847927-15847927

 livercarcinomaSubstitution - coding silent

c.371G>A; p.G124E; 10:15841464-15841464

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.474C>G; p.F158L; 10:15837306-15837306

 breastcarcinomaSubstitution - Missense

c.926G>A; p.R309K; 10:15796129-15796129

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.926G>A; p.R309K; 10:15796129-15796129

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.236-1G>T; p.?; 10:15841600-15841600

 lungcarcinoma; adenocarcinomaUnknown

c.1069G>C; p.G357R; 10:15786608-15786608

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.234A>G; p.S78S; 10:15843213-15843213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.699A>G; p.V233V; 10:15833661-15833661

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3G>T; p.M1I; 10:15860297-15860297

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1069G>A; p.G357R; 10:15786608-15786608

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.731-1G>A; p.?; 10:15821727-15821727

 urinary_tract; bladdercarcinomaUnknown

c.950C>T; p.P317L; 10:15796105-15796105

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1041G>A; p.M347I; 10:15786636-15786636

 breastcarcinomaSubstitution - Missense

c.470C>T; p.S157L; 10:15837310-15837310

 skinmalignant_melanomaSubstitution - Missense

c.470C>T; p.S157L; 10:15837310-15837310

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.470C>T; p.S157L; 10:15837310-15837310

 skinmalignant_melanomaSubstitution - Missense

c.470C>T; p.S157L; 10:15837310-15837310

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.392G>T; p.C131F; 10:15841443-15841443

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1036C>T; p.L346F; 10:15786641-15786641

 skinmalignant_melanomaSubstitution - Missense

c.1236C>T; p.P412P; 10:15779094-15779094

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.181C>T; p.L61F; 10:15843266-15843266

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.422T>C; p.V141A; 10:15838267-15838267

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.946G>A; p.D316N; 10:15796109-15796109

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.622T>C; p.L208L; 10:15834571-15834571

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.375T>C; p.S125S; 10:15841460-15841460

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.445T>C; p.F149L; 10:15838244-15838244

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.598G>A; p.E200K; 10:15834595-15834595

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.677C>T; p.T226M; 10:15833683-15833683

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.678G>A; p.T226T; 10:15833682-15833682

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1276C>T; p.Q426*; 10:15779054-15779054

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.902_903insC; p.E302fs*1; 10:15796152-15796153

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.309A>G; p.G103G; 10:15841526-15841526

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.119G>T; p.G40V; 10:15847919-15847919

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.63C>T; p.L21L; 10:15860237-15860237

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1136C>A; p.S379Y; 10:15782207-15782207

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.225G>T; p.R75R; 10:15843222-15843222

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.536T>C; p.F179S; 10:15837244-15837244

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.163G>A; p.A55T; 10:15847875-15847875

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.728T>C; p.M243T; 10:15833632-15833632

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.876delT; p.F292fs*7; 10:15816841-15816841

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.520A>G; p.M174V; 10:15837260-15837260

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.207G>A; p.S69S; 10:15843240-15843240

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1333A>C; p.N445H; 10:15778997-15778997

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.400G>A; p.E134K; 10:15841435-15841435

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.840G>A; p.W280*; 10:15816877-15816877

 breastcarcinomaSubstitution - Nonsense

c.313T>C; p.Y105H; 10:15841522-15841522

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1328C>T; p.S443L; 10:15779002-15779002

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.142G>A; p.G48S; 10:15847896-15847896

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136C>T; p.S379F; 10:15782207-15782207

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.681A>G; p.G227G; 10:15833679-15833679

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1136C>T; p.S379F; 10:15782207-15782207

 skinmalignant_melanomaSubstitution - Missense

c.223C>T; p.R75W; 10:15843224-15843224

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1197C>T; p.Y399Y; 10:15779133-15779133

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.825A>G; p.P275P; 10:15816892-15816892

 livercarcinomaSubstitution - coding silent

c.825A>G; p.P275P; 10:15816892-15816892

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.291T>C; p.A97A; 10:15841544-15841544

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1180A>G; p.N394D; 10:15782163-15782163

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1308G>T; p.W436C; 10:15779022-15779022

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.812A>T; p.Y271F; 10:15816905-15816905

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.308G>A; p.G103E; 10:15841527-15841527

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.426A>T; p.E142D; 10:15838263-15838263

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1074C>T; p.I358I; 10:15786603-15786603

 skinmalignant_melanomaSubstitution - coding silent

c.947A>G; p.D316G; 10:15796108-15796108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.920A>T; p.Q307L; 10:15796135-15796135

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

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