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

Basic Information

Gene ID

55743

Name

CHFR

Synonymous

checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase;CHFR;checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase

Definition

E3 ubiquitin-protein ligase CHFR|RING finger protein 196

Position

12q24.33

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 0.05.

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.779C>T; p.T260M; 12:132859113-132859113

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1474C>A; p.L492M; 12:132848656-132848656

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1614C>G; p.L538L; 12:132847077-132847077

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.751G>T; p.A251S; 12:132859141-132859141

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1323C>T; p.H441H; 12:132851700-132851700

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.413C>T; p.P138L; 12:132862416-132862416

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.413C>T; p.P138L; 12:132862416-132862416

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.726C>T; p.T242T; 12:132859166-132859166

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1012A>G; p.M338V; 12:132856598-132856598

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.725C>T; p.T242I; 12:132859167-132859167

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.949C>G; p.L317V; 12:132857435-132857435

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1219G>A; p.E407K; 12:132853497-132853497

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.939C>T; p.I313I; 12:132857445-132857445

 skinmalignant_melanomaSubstitution - coding silent

c.1465T>A; p.Y489N; 12:132848665-132848665

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.580C>A; p.P194T; 12:132861551-132861551

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.709C>T; p.R237C; 12:132859183-132859183

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1802G>A; p.R601H; 12:132843038-132843038

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1064G>A; p.R355Q; 12:132856546-132856546

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1812G>A; p.V604V; 12:132843028-132843028

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1399C>T; p.Q467*; 12:132851624-132851624

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1399C>T; p.Q467*; 12:132851624-132851624

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.349G>T; p.A117S; 12:132870778-132870778

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1399C>T; p.Q467*; 12:132851624-132851624

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.206C>T; p.S69L; 12:132877582-132877582

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.617C>T; p.P206L; 12:132861514-132861514

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1061G>T; p.R354M; 12:132856549-132856549

 livercarcinomaSubstitution - Missense

c.1061G>T; p.R354M; 12:132856549-132856549

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.604delT; p.S202fs*14; 12:132861527-132861527

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.596C>T; p.A199V; 12:132861535-132861535

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.596C>T; p.A199V; 12:132861535-132861535

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.289_290delTT; p.L97fs*14; 12:132872338-132872339

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1015G>C; p.D339H; 12:132856595-132856595

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.927T>C; p.C309C; 12:132857457-132857457

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1386G>A; p.P462P; 12:132851637-132851637

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1386G>A; p.P462P; 12:132851637-132851637

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1063C>T; p.R355W; 12:132856547-132856547

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.209G>A; p.G70D; 12:132877579-132877579

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1063C>T; p.R355W; 12:132856547-132856547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.605C>T; p.S202L; 12:132861526-132861526

 skinmalignant_melanomaSubstitution - Missense

c.605C>T; p.S202L; 12:132861526-132861526

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.609G>A; p.S203S; 12:132861522-132861522

 pancreascarcinomaSubstitution - coding silent

c.653A>G; p.K218R; 12:132861478-132861478

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1067C>A; p.S356Y; 12:132856543-132856543

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1163G>A; p.R388Q; 12:132853553-132853553

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1163G>A; p.R388Q; 12:132853553-132853553

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1345C>T; p.Q449*; 12:132851678-132851678

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.989G>A; p.R330H; 12:132856621-132856621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.619C>T; p.Q207*; 12:132861512-132861512

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1025A>G; p.N342S; 12:132856585-132856585

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1030A>G; p.I344V; 12:132856580-132856580

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1458_1459insAACTGCTAC; p.T486_G487insNCY; 12:132848671-132848672

 skinmalignant_melanomaInsertion - In frame

c.846G>A; p.T282T; 12:132857538-132857538

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1385C>T; p.P462L; 12:132851638-132851638

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.631G>T; p.D211Y; 12:132861500-132861500

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1368_1369GG>AC; p.E457Q; 12:132851654-132851655

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1356C>T; p.P452P; 12:132851667-132851667

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.527G>A; p.G176E; 12:132861604-132861604

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1280C>T; p.T427M; 12:132853436-132853436

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.146C>T; p.S49F; 12:132877642-132877642

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1269C>T; p.S423S; 12:132853447-132853447

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1789G>A; p.G597S; 12:132843051-132843051

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1843A>T; p.I615F; 12:132841583-132841583

 skinmalignant_melanomaSubstitution - Missense

c.1393G>A; p.A465T; 12:132851630-132851630

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1388G>C; p.R463P; 12:132851635-132851635

 skinmalignant_melanomaSubstitution - Missense

c.813C>T; p.H271H; 12:132859079-132859079

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.852C>T; p.C284C; 12:132857532-132857532

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.775G>A; p.E259K; 12:132859117-132859117

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1561-1G>T; p.?; 12:132847131-132847131

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.1113A>G; p.S371S; 12:132856497-132856497

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.311A>G; p.Y104C; 12:132872317-132872317

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1266G>T; p.T422T; 12:132853450-132853450

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1615G>A; p.V539M; 12:132847076-132847076

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1245C>T; p.A415A; 12:132853471-132853471

 skinmalignant_melanomaSubstitution - coding silent

c.808C>T; p.L270L; 12:132859084-132859084

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.727G>A; p.V243I; 12:132859165-132859165

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1375G>A; p.E459K; 12:132851648-132851648

 pancreascarcinomaSubstitution - Missense

c.1469G>A; p.G490D; 12:132848661-132848661

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.603T>G; p.F201L; 12:132861528-132861528

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.642C>T; p.P214P; 12:132861489-132861489

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1367C>T; p.A456V; 12:132851656-132851656

 prostateadenomaSubstitution - Missense

c.1367C>T; p.A456V; 12:132851656-132851656

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1542C>T; p.Y514Y; 12:132848103-132848103

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.279G>A; p.Q93Q; 12:132872349-132872349

 skinmalignant_melanomaSubstitution - coding silent

c.814G>A; p.D272N; 12:132859078-132859078

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.577C>T; p.L193F; 12:132861554-132861554

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1455G>A; p.R485R; 12:132848675-132848675

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.949C>T; p.L317F; 12:132857435-132857435

 skinmalignant_melanomaSubstitution - Missense

c.150C>G; p.F50L; 12:132877638-132877638

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1747G>C; p.E583Q; 12:132844036-132844036

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1648G>T; p.D550Y; 12:132847043-132847043

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1367C>G; p.A456G; 12:132851656-132851656

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1224C>T; p.G408G; 12:132853492-132853492

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1714A>C; p.T572P; 12:132844069-132844069

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1714A>C; p.T572P; 12:132844069-132844069

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1752G>T; p.L584F; 12:132844031-132844031

 livercarcinomaSubstitution - Missense

c.1190C>A; p.A397E; 12:132853526-132853526

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1242G>A; p.Q414Q; 12:132853474-132853474

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.504G>A; p.G168G; 12:132861627-132861627

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.597G>A; p.A199A; 12:132861534-132861534

 oesophaguscarcinomaSubstitution - coding silent

c.951C>T; p.L317L; 12:132857433-132857433

 skinmalignant_melanomaSubstitution - coding silent

c.970C>T; p.Q324*; 12:132857414-132857414

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1710G>T; p.E570D; 12:132844073-132844073

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.681G>C; p.L227L; 12:132859211-132859211

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.676G>A; p.D226N; 12:132859216-132859216

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1854G>A; p.Q618Q; 12:132841572-132841572

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.130C>T; p.R44*; 12:132887199-132887199

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1756G>T; p.V586L; 12:132844027-132844027

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1409C>T; p.A470V; 12:132848721-132848721

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.253A>G; p.N85D; 12:132872375-132872375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1713G>T; p.L571L; 12:132844070-132844070

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1791C>T; p.G597G; 12:132843049-132843049

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1791C>T; p.G597G; 12:132843049-132843049

 pancreascarcinoid-endocrine_tumourSubstitution - coding silent

c.1373G>A; p.R458H; 12:132851650-132851650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.707C>T; p.P236L; 12:132859185-132859185

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.904C>T; p.R302C; 12:132857480-132857480

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.763G>C; p.D255H; 12:132859129-132859129

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.535C>T; p.P179S; 12:132861596-132861596

 skinmalignant_melanomaSubstitution - Missense

c.1582T>C; p.L528L; 12:132847109-132847109

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

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