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

Basic Information

Gene ID

2972

Name

BRF1

Synonymous

BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit;BRF1;BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

Definition

B - related factor 1|BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB|TATA box binding protein (TBP)-associated factor 3C|TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2|TBP - associate

Position

14q

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 0.10.

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.1383C>T; p.I461I; 14:105219227-105219227

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1825G>A; p.A609T; 14:105211293-105211293

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.352G>A; p.V118M; 14:105272808-105272808

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1630C>G; p.R544G; 14:105217686-105217686

 skinmalignant_melanomaSubstitution - Missense

c.983T>G; p.I328S; 14:105226134-105226134

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1144T>C; p.Y382H; 14:105221819-105221819

 livercarcinomaSubstitution - Missense

c.1144T>C; p.Y382H; 14:105221819-105221819

 livercarcinomaSubstitution - Missense

c.248C>T; p.A83V; 14:105286313-105286313

 central_nervous_system; braingliomaSubstitution - Missense

c.696G>A; p.A232A; 14:105228912-105228912

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.696G>A; p.A232A; 14:105228912-105228912

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1884G>A; p.L628L; 14:105211234-105211234

 skinmalignant_melanomaSubstitution - coding silent

c.1560C>A; p.T520T; 14:105217756-105217756

 prostatecarcinomaSubstitution - coding silent

c.876_877insC; p.S293fs*15; 14:105226672-105226673

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1571C>A; p.A524D; 14:105217745-105217745

 thyroidother; neoplasmSubstitution - Missense

c.695C>T; p.A232V; 14:105228913-105228913

 breastcarcinomaSubstitution - Missense

c.459C>T; p.S153S; 14:105256530-105256530

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1537C>T; p.R513W; 14:105217779-105217779

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.777G>T; p.T259T; 14:105228831-105228831

 breastcarcinomaSubstitution - coding silent

c.956-1G>T; p.?; 14:105226162-105226162

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.438G>A; p.P146P; 14:105272722-105272722

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1279A>T; p.I427F; 14:105221684-105221684

 NSNSSubstitution - Missense

c.781C>T; p.R261W; 14:105228827-105228827

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.643A>C; p.K215Q; 14:105241316-105241316

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1899C>T; p.P633P; 14:105211219-105211219

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1358A>T; p.D453V; 14:105220088-105220088

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.121G>T; p.V41L; 14:105300509-105300509

 breastcarcinomaSubstitution - Missense

c.1437C>T; p.A479A; 14:105219173-105219173

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.242C>T; p.S81L; 14:105286319-105286319

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.439C>T; p.H147Y; 14:105272721-105272721

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.439C>T; p.H147Y; 14:105272721-105272721

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1532A>G; p.K511R; 14:105217784-105217784

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1506G>T; p.K502N; 14:105219007-105219007

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.810C>A; p.T270T; 14:105226739-105226739

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1446G>A; p.L482L; 14:105219164-105219164

 ovaryother; neoplasmSubstitution - coding silent

c.1925_1936del12; p.A642_E645delADEE; 14:105211182-105211193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1008G>T; p.R336R; 14:105226109-105226109

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.545-10T>C; p.?; 14:105241424-105241424

 livercarcinomaUnknown

c.545-10T>C; p.?; 14:105241424-105241424

 livercarcinomaUnknown

c.566G>A; p.R189H; 14:105241393-105241393

 breastcarcinomaSubstitution - Missense

c.421C>T; p.R141C; 14:105272739-105272739

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.421C>T; p.R141C; 14:105272739-105272739

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1084G>T; p.E362*; 14:105221879-105221879

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.965C>T; p.S322F; 14:105226152-105226152

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.366G>T; p.L122L; 14:105272794-105272794

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.594G>A; p.E198E; 14:105241365-105241365

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1206C>T; p.G402G; 14:105221757-105221757

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1206C>T; p.G402G; 14:105221757-105221757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.642G>A; p.M214I; 14:105241317-105241317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1623C>T; p.S541S; 14:105217693-105217693

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.802G>A; p.E268K; 14:105226747-105226747

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1160G>A; p.G387D; 14:105221803-105221803

 skinmalignant_melanomaSubstitution - Missense

c.1960C>T; p.P654S; 14:105211158-105211158

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1549C>A; p.Q517K; 14:105217767-105217767

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1561G>A; p.A521T; 14:105217755-105217755

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1348A>G; p.S450G; 14:105220098-105220098

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1714C>G; p.R572G; 14:105217602-105217602

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.588C>T; p.F196F; 14:105241371-105241371

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.442A>C; p.M148L; 14:105256547-105256547

 thyroidother; neoplasmSubstitution - Missense

c.1378-6G>A; p.?; 14:105219238-105219238

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1900G>A; p.V634M; 14:105211218-105211218

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.761A>C; p.K254T; 14:105228847-105228847

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.751A>G; p.S251G; 14:105228857-105228857

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.510G>T; p.L170F; 14:105252541-105252541

 oesophaguscarcinomaSubstitution - Missense

c.1715G>A; p.R572Q; 14:105217601-105217601

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.104A>T; p.N35I; 14:105300526-105300526

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1953C>T; p.D651D; 14:105211165-105211165

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.604G>A; p.E202K; 14:105241355-105241355

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1025_1026insG; p.L343fs*104; 14:105226091-105226092

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.846G>T; p.K282N; 14:105226703-105226703

 stomachadenocarcinomaSubstitution - Missense

c.1556G>A; p.S519N; 14:105217760-105217760

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1515+1G>A; p.?; 14:105218997-105218997

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.472-2A>C; p.?; 14:105252581-105252581

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1662G>A; p.P554P; 14:105217654-105217654

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.939_940insA; p.L314fs*5; 14:105226266-105226267

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1930G>A; p.E644K; 14:105211188-105211188

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.879G>A; p.S293S; 14:105226670-105226670

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.342C>A; p.F114L; 14:105272818-105272818

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1398A>G; p.E466E; 14:105219212-105219212

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1649delG; p.G550fs*36; 14:105217667-105217667

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - Frameshift

c.1667G>A; p.R556K; 14:105217649-105217649

 breastcarcinomaSubstitution - Missense

c.1824+10C>T; p.?; 14:105212103-105212103

 skin; trunkmalignant_melanoma; nodularUnknown

c.1684G>A; p.E562K; 14:105217632-105217632

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1163_1165delGTG; p.G388delG; 14:105221798-105221800

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.216C>T; p.G72G; 14:105286345-105286345

 skinmalignant_melanomaSubstitution - coding silent

c.1647C>T; p.A549A; 14:105217669-105217669

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1626G>T; p.V542V; 14:105217690-105217690

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.961A>C; p.I321L; 14:105226156-105226156

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1401C>G; p.A467A; 14:105219209-105219209

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1624G>A; p.V542M; 14:105217692-105217692

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1271C>T; p.S424L; 14:105221692-105221692

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1907A>G; p.Y636C; 14:105211211-105211211

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.671G>A; p.R224H; 14:105241288-105241288

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.328G>A; p.A110T; 14:105272832-105272832

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.292A>G; p.N98D; 14:105272868-105272868

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.744G>A; p.E248E; 14:105228864-105228864

 skin; upper_legmalignant_melanomaSubstitution - coding silent

c.1166C>T; p.A389V; 14:105221797-105221797

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.876delC; p.S293fs*11; 14:105226673-105226673

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1405G>T; p.V469L; 14:105219205-105219205

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.876delC; p.S293fs*11; 14:105226673-105226673

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.876delC; p.S293fs*11; 14:105226673-105226673

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.931T>C; p.S311P; 14:105226275-105226275

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.955+4A>G; p.?; 14:105226247-105226247

 pancreascarcinomaUnknown

c.1607G>T; p.S536I; 14:105217709-105217709

 thyroidother; neoplasmSubstitution - Missense

c.1405G>A; p.V469M; 14:105219205-105219205

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1405G>A; p.V469M; 14:105219205-105219205

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1116C>T; p.A372A; 14:105221847-105221847

 central_nervous_system; braingliomaSubstitution - coding silent

c.502C>A; p.L168I; 14:105252549-105252549

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1647C>A; p.A549A; 14:105217669-105217669

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1647C>A; p.A549A; 14:105217669-105217669

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1625T>C; p.V542A; 14:105217691-105217691

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

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