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

Basic Information

Gene ID

64326

Name

RFWD2

Synonymous

ring finger and WD repeat domain 2, E3 ubiquitin protein ligase;RFWD2;ring finger and WD repeat domain 2, E3 ubiquitin protein ligase

Definition

E3 ubiquitin-protein ligase RFWD2|RING finger protein 200|constitutive photomorphogenesis protein 1 homolog|putative ubiquitin ligase COP1

Position

1q25.1-q25.2

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 0.07.

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.1265G>T; p.S422I; 1:176081164-176081164

 oesophaguscarcinomaSubstitution - Missense

c.796G>T; p.E266*; 1:176149041-176149041

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2100T>C; p.V700V; 1:175986976-175986976

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1147A>G; p.S383G; 1:176081282-176081282

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1740C>A; p.V580V; 1:175989469-175989469

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.561C>A; p.F187L; 1:176175914-176175914

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2007A>G; p.K669K; 1:175987069-175987069

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.826A>C; p.R276R; 1:176149011-176149011

 prostatecarcinomaSubstitution - coding silent

c.2179-7delC; p.?; 1:175945177-175945177

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.581T>G; p.L194R; 1:176163876-176163876

 skin; neckmalignant_melanomaSubstitution - Missense

c.1931delA; p.N644fs*3; 1:175988329-175988329

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1746C>T; p.Y582Y; 1:175989463-175989463

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.613T>C; p.F205L; 1:176163844-176163844

 skinmalignant_melanomaSubstitution - Missense

c.1241C>T; p.A414V; 1:176081188-176081188

 skinmalignant_melanomaSubstitution - Missense

c.1125G>T; p.R375S; 1:176085792-176085792

 skinmalignant_melanomaSubstitution - Missense

c.2104G>C; p.A702P; 1:175986972-175986972

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.438A>G; p.A146A; 1:176184662-176184662

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.511C>T; p.P171S; 1:176175964-176175964

 skinmalignant_melanomaSubstitution - Missense

c.511C>T; p.P171S; 1:176175964-176175964

 skinmalignant_melanomaSubstitution - Missense

c.511C>T; p.P171S; 1:176175964-176175964

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.355C>G; p.L119V; 1:176206624-176206624

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.832-3C>A; p.?; 1:176136550-176136550

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningUnknown

c.1557T>A; p.V519V; 1:176043241-176043241

 breastcarcinomaSubstitution - coding silent

c.642+1G>A; p.?; 1:176163814-176163814

 prostatecarcinomaUnknown

c.952C>T; p.P318S; 1:176135026-176135026

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.403G>C; p.V135L; 1:176206576-176206576

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1465A>T; p.S489C; 1:176043775-176043775

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1659G>T; p.E553D; 1:176027642-176027642

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1419C>T; p.I473I; 1:176046183-176046183

 skinmalignant_melanomaSubstitution - coding silent

c.2171C>T; p.T724I; 1:175947202-175947202

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1942C>T; p.L648L; 1:175988318-175988318

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1719C>T; p.F573F; 1:176027582-176027582

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.567G>A; p.V189V; 1:176163890-176163890

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.307A>T; p.S103C; 1:176206672-176206672

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1734C>G; p.H578Q; 1:175989475-175989475

 livercarcinomaSubstitution - Missense

c.638G>A; p.S213N; 1:176163819-176163819

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1734C>G; p.H578Q; 1:175989475-175989475

 livercarcinomaSubstitution - Missense

c.1142-8_1142-7insT; p.?; 1:176081294-176081295

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.896T>C; p.M299T; 1:176135082-176135082

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1795C>T; p.R599C; 1:175989414-175989414

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1510C>T; p.Q504*; 1:176043730-176043730

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.834A>G; p.Q278Q; 1:176136545-176136545

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1973G>A; p.G658E; 1:175987103-175987103

 skinmalignant_melanomaSubstitution - Missense

c.1576C>T; p.P526S; 1:176043222-176043222

 prostateadenomaSubstitution - Missense

c.431A>C; p.E144A; 1:176184669-176184669

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1576C>T; p.P526S; 1:176043222-176043222

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.611G>T; p.R204M; 1:176163846-176163846

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.973A>G; p.I325V; 1:176116677-176116677

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2191G>C; p.V731L; 1:175945158-175945158

 stomachadenocarcinomaSubstitution - Missense

c.884G>C; p.R295T; 1:176136495-176136495

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.884G>C; p.R295T; 1:176136495-176136495

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1178A>T; p.Q393L; 1:176081251-176081251

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1178A>T; p.Q393L; 1:176081251-176081251

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.674G>T; p.W225L; 1:176162957-176162957

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.582T>C; p.L194L; 1:176163875-176163875

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.660G>C; p.Q220H; 1:176162971-176162971

 breastcarcinomaSubstitution - Missense

c.576C>A; p.L192L; 1:176163881-176163881

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1121C>T; p.T374I; 1:176085796-176085796

 large_intestine; colonNSSubstitution - Missense

c.946G>T; p.E316*; 1:176135032-176135032

 skin; extremitymalignant_melanomaSubstitution - Nonsense

c.411C>T; p.P137P; 1:176184689-176184689

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.378C>A; p.S126S; 1:176206601-176206601

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1887A>G; p.K629K; 1:175988373-175988373

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1736_1744delGTGTCCACT; p.C579_H581delCVH; 1:175989465-175989473

 ovarycarcinoma; serous_carcinomaDeletion - In frame

c.1122A>G; p.T374T; 1:176085795-176085795

 thyroidcarcinomaSubstitution - coding silent

c.398A>G; p.D133G; 1:176206581-176206581

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.519T>C; p.C173C; 1:176175956-176175956

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1530+5A>C; p.?; 1:176043705-176043705

 pancreascarcinomaUnknown

c.425T>G; p.M142R; 1:176184675-176184675

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.690A>C; p.Q230H; 1:176162941-176162941

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.961T>C; p.S321P; 1:176135017-176135017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.518G>A; p.C173Y; 1:176175957-176175957

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1874G>C; p.W625S; 1:175988386-175988386

 skinmalignant_melanomaSubstitution - Missense

c.1017C>T; p.G339G; 1:176116633-176116633

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1329G>C; p.K443N; 1:176046273-176046273

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.692A>G; p.D231G; 1:176162939-176162939

 central_nervous_system; braingliomaSubstitution - Missense

c.296T>G; p.V99G; 1:176206683-176206683

 thyroidother; neoplasmSubstitution - Missense

c.1433G>A; p.W478*; 1:176043807-176043807

 central_nervous_system; thalamusglioma; astrocytoma_Grade_IIISubstitution - Nonsense

c.1814C>A; p.A605E; 1:175989395-175989395

 breastcarcinomaSubstitution - Missense

c.1555G>T; p.V519F; 1:176043243-176043243

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.586C>T; p.Q196*; 1:176163871-176163871

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.430G>A; p.E144K; 1:176184670-176184670

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1016G>A; p.G339D; 1:176116634-176116634

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1272C>T; p.V424V; 1:176081157-176081157

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1915C>T; p.H639Y; 1:175988345-175988345

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1272C>T; p.V424V; 1:176081157-176081157

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1046A>G; p.Y349C; 1:176085871-176085871

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1342T>C; p.Y448H; 1:176046260-176046260

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2155G>A; p.A719T; 1:175947218-175947218

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.768A>G; p.S256S; 1:176149069-176149069

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.818G>T; p.R273I; 1:176149019-176149019

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1390G>A; p.E464K; 1:176046212-176046212

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2088A>T; p.T696T; 1:175986988-175986988

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2054G>A; p.S685N; 1:175987022-175987022

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1056G>A; p.T352T; 1:176085861-176085861

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1740C>G; p.V580V; 1:175989469-175989469

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2072G>A; p.R691Q; 1:175987004-175987004

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.461G>A; p.S154N; 1:176184639-176184639

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1756C>T; p.R586C; 1:175989453-175989453

 skinmalignant_melanomaSubstitution - Missense

c.1025A>T; p.Q342L; 1:176116625-176116625

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1032G>T; p.K344N; 1:176085885-176085885

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2071C>T; p.R691*; 1:175987005-175987005

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1193A>G; p.K398R; 1:176081236-176081236

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2059C>G; p.L687V; 1:175987017-175987017

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1477G>T; p.G493C; 1:176043763-176043763

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.484C>G; p.Q162E; 1:176175991-176175991

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1613-2A>G; p.?; 1:176027690-176027690

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.1514G>T; p.R505M; 1:176043726-176043726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1388C>T; p.P463L; 1:176046214-176046214

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1971+2G>T; p.?; 1:175988287-175988287

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.1543A>C; p.R515R; 1:176043255-176043255

 breastcarcinomaSubstitution - coding silent

c.662T>C; p.I221T; 1:176162969-176162969

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1708C>T; p.H570Y; 1:176027593-176027593

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1517C>T; p.S506L; 1:176043723-176043723

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1701C>T; p.S567S; 1:176027600-176027600

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1471T>C; p.Y491H; 1:176043769-176043769

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1670A>G; p.N557S; 1:176027631-176027631

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1291C>T; p.R431W; 1:176046311-176046311

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.302G>A; p.G101D; 1:176206677-176206677

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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