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

Basic Information

Gene ID

2189

Name

FANCG

Synonymous

Fanconi anemia, complementation group G;FANCG;Fanconi anemia, complementation group G

Definition

DNA repair protein XRCC9|Fanconi anemia group G protein|X-ray repair complementing defective repair in Chinese hamster cells 9|X-ray repair, complementing defective, in Chinese hamster, 9

Position

9p13

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.05.

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.671A>G; p.N224S; 9:35077077-35077077

 prostatecarcinomaSubstitution - Missense

c.466C>G; p.L156V; 9:35078185-35078185

 breastcarcinomaSubstitution - Missense

c.1173C>A; p.P391P; 9:35075725-35075725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1402G>A; p.A468T; 9:35075496-35075496

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.19T>A; p.S7T; 9:35079506-35079506

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1060T>C; p.C354R; 9:35076448-35076448

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1367A>C; p.H456P; 9:35075531-35075531

 breastcarcinomaSubstitution - Missense

c.7C>T; p.R3C; 9:35079518-35079518

 skinmalignant_melanomaSubstitution - Missense

c.1637-1G>A; p.?; 9:35074495-35074495

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.404T>C; p.L135P; 9:35078247-35078247

 stomachadenocarcinomaSubstitution - Missense

c.1158delC; p.S387fs*16; 9:35075740-35075740

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.481T>A; p.L161M; 9:35078170-35078170

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.271G>T; p.D91Y; 9:35078641-35078641

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.203C>T; p.P68L; 9:35078709-35078709

 skinmalignant_melanomaSubstitution - Missense

c.1556G>C; p.S519T; 9:35075007-35075007

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1852A>T; p.K618*; 9:35074125-35074125

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1101C>T; p.Y367Y; 9:35076004-35076004

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1558C>T; p.R520C; 9:35075005-35075005

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1350C>G; p.L450L; 9:35075548-35075548

 NSNSSubstitution - coding silent

c.463C>T; p.R155C; 9:35078188-35078188

 stomachadenocarcinomaSubstitution - Missense

c.1483G>C; p.A495P; 9:35075080-35075080

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.146G>T; p.G49V; 9:35079180-35079180

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1631G>T; p.C544F; 9:35074932-35074932

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.622C>A; p.L208M; 9:35077288-35077288

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.442G>T; p.A148S; 9:35078209-35078209

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.335C>T; p.P112L; 9:35078316-35078316

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.777G>A; p.M259I; 9:35076971-35076971

 skinmalignant_melanomaSubstitution - Missense

c.1008A>G; p.S336S; 9:35076500-35076500

 breastcarcinomaSubstitution - coding silent

c.222C>A; p.T74T; 9:35078690-35078690

 breastcarcinomaSubstitution - coding silent

c.957G>A; p.P319P; 9:35076551-35076551

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1510A>T; p.K504*; 9:35075053-35075053

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.712G>A; p.G238S; 9:35077036-35077036

 skinmalignant_melanomaSubstitution - Missense

c.655G>C; p.E219Q; 9:35077093-35077093

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.39G>T; p.L13L; 9:35079486-35079486

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.548C>A; p.T183N; 9:35077362-35077362

 prostatecarcinomaSubstitution - Missense

c.1621G>T; p.V541L; 9:35074942-35074942

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.320A>T; p.Q107L; 9:35078331-35078331

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1768C>A; p.P590T; 9:35074209-35074209

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.955C>T; p.P319S; 9:35076553-35076553

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1837C>T; p.R613W; 9:35074140-35074140

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1012C>A; p.L338I; 9:35076496-35076496

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1350C>T; p.L450L; 9:35075548-35075548

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1286C>T; p.P429L; 9:35075612-35075612

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1059G>T; p.R353S; 9:35076449-35076449

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.421C>T; p.R141C; 9:35078230-35078230

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.20C>T; p.S7F; 9:35079505-35079505

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1351T>C; p.W451R; 9:35075547-35075547

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1125G>T; p.L375L; 9:35075980-35075980

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.48G>A; p.W16*; 9:35079477-35079477

 thyroidcarcinomaSubstitution - Nonsense

c.488T>G; p.L163R; 9:35078163-35078163

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.541C>T; p.L181L; 9:35077369-35077369

 oesophaguscarcinomaSubstitution - coding silent

c.1821C>A; p.A607A; 9:35074156-35074156

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.854A>G; p.E285G; 9:35076794-35076794

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1821C>A; p.A607A; 9:35074156-35074156

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1813C>T; p.R605C; 9:35074164-35074164

 skinmalignant_melanomaSubstitution - Missense

c.1813C>T; p.R605C; 9:35074164-35074164

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.838G>C; p.G280R; 9:35076810-35076810

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1546G>A; p.A516T; 9:35075017-35075017

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1176T>C; p.C392C; 9:35075722-35075722

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1619G>A; p.S540N; 9:35074944-35074944

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1723G>A; p.E575K; 9:35074408-35074408

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1078G>A; p.A360T; 9:35076027-35076027

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1696G>A; p.E566K; 9:35074435-35074435

 breastcarcinomaSubstitution - Missense

c.743T>C; p.V248A; 9:35077005-35077005

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.930G>C; p.L310F; 9:35076578-35076578

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1819G>A; p.A607T; 9:35074158-35074158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1095G>T; p.E365D; 9:35076010-35076010

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.163C>T; p.H55Y; 9:35079163-35079163

 skinmalignant_melanomaSubstitution - Missense

c.970G>C; p.E324Q; 9:35076538-35076538

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1807T>A; p.S603T; 9:35074170-35074170

 skinmalignant_melanomaSubstitution - Missense

c.641G>A; p.R214H; 9:35077269-35077269

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1474G>T; p.E492*; 9:35075285-35075285

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1474G>T; p.E492*; 9:35075285-35075285

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.641G>A; p.R214H; 9:35077269-35077269

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.614A>G; p.D205G; 9:35077296-35077296

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.84G>A; p.K28K; 9:35079441-35079441

 skinmalignant_melanomaSubstitution - coding silent

c.19T>G; p.S7A; 9:35079506-35079506

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.826G>A; p.G276R; 9:35076822-35076822

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.647-6C>T; p.?; 9:35077107-35077107

 oesophaguscarcinoma; adenocarcinomaUnknown

c.1403C>T; p.A468V; 9:35075495-35075495

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1486G>A; p.A496T; 9:35075077-35075077

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.511-1G>A; p.?; 9:35077400-35077400

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1769C>T; p.P590L; 9:35074208-35074208

 skinmalignant_melanomaSubstitution - Missense

c.525G>T; p.K175N; 9:35077385-35077385

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.293G>A; p.R98Q; 9:35078619-35078619

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1603C>G; p.Q535E; 9:35074960-35074960

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1063C>A; p.L355I; 9:35076445-35076445

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1441G>A; p.E481K; 9:35075318-35075318

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1063C>A; p.L355I; 9:35076445-35076445

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1115C>T; p.A372V; 9:35075990-35075990

 thyroidother; neoplasmSubstitution - Missense

c.632T>A; p.F211Y; 9:35077278-35077278

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.608T>C; p.L203S; 9:35077302-35077302

 breastcarcinomaSubstitution - Missense

c.1256A>T; p.E419V; 9:35075642-35075642

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1636+7A>G; p.?; 9:35074920-35074920

 livercarcinoma; hepatocellular_carcinomaUnknown

c.890C>T; p.T297I; 9:35076758-35076758

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1464T>C; p.P488P; 9:35075295-35075295

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1412T>A; p.V471E; 9:35075486-35075486

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

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