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

Basic Information

Gene ID

2077

Name

ERF

Synonymous

Ets2 repressor factor;ERF;Ets2 repressor factor

Definition

ETS domain-containing transcription factor ERF

Position

19q13

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.165C>T; p.F55F; 19:42250423-42250423

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.444G>A; p.T148T; 19:42249668-42249668

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.589G>T; p.E197*; 19:42249523-42249523

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.251C>T; p.A84V; 19:42250337-42250337

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>T; p.R487C; 19:42248653-42248653

 skinmalignant_melanomaSubstitution - Missense

c.926A>G; p.D309G; 19:42249186-42249186

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.607G>A; p.D203N; 19:42249505-42249505

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.133G>A; p.V45I; 19:42250455-42250455

 skinmalignant_melanomaSubstitution - Missense

c.416G>T; p.G139V; 19:42249696-42249696

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.416G>T; p.G139V; 19:42249696-42249696

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.909C>A; p.F303L; 19:42249203-42249203

 livercarcinomaSubstitution - Missense

c.909C>A; p.F303L; 19:42249203-42249203

 livercarcinomaSubstitution - Missense

c.1498C>T; p.P500S; 19:42248614-42248614

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1456C>T; p.R486W; 19:42248656-42248656

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1456C>T; p.R486W; 19:42248656-42248656

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.615C>G; p.R205R; 19:42249497-42249497

 thyroidother; neoplasmSubstitution - coding silent

c.615C>G; p.R205R; 19:42249497-42249497

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.179C>T; p.P60L; 19:42250409-42250409

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1156C>T; p.R386C; 19:42248956-42248956

 skinmalignant_melanomaSubstitution - Missense

c.615C>G; p.R205R; 19:42249497-42249497

 thyroidother; neoplasmSubstitution - coding silent

c.489A>G; p.P163P; 19:42249623-42249623

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1590G>T; p.V530V; 19:42248522-42248522

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1362C>G; p.F454L; 19:42248750-42248750

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.911C>T; p.S304F; 19:42249201-42249201

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.579G>A; p.T193T; 19:42249533-42249533

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1377C>G; p.A459A; 19:42248735-42248735

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.205G>A; p.V69I; 19:42250383-42250383

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1490G>A; p.G497D; 19:42248622-42248622

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.940C>A; p.L314M; 19:42249172-42249172

 livercarcinomaSubstitution - Missense

c.1293G>A; p.S431S; 19:42248819-42248819

 skinmalignant_melanomaSubstitution - coding silent

c.1305G>A; p.S435S; 19:42248807-42248807

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1482C>T; p.L494L; 19:42248630-42248630

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1230T>C; p.A410A; 19:42248882-42248882

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1230T>C; p.A410A; 19:42248882-42248882

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1230T>C; p.A410A; 19:42248882-42248882

 thyroidother; neoplasmSubstitution - coding silent

c.275G>A; p.R92H; 19:42249925-42249925

 thyroidcarcinomaSubstitution - Missense

c.275G>A; p.R92H; 19:42249925-42249925

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.503C>T; p.S168F; 19:42249609-42249609

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.985C>T; p.R329C; 19:42249127-42249127

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.745C>A; p.P249T; 19:42249367-42249367

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.794C>T; p.S265F; 19:42249318-42249318

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.506C>T; p.S169L; 19:42249606-42249606

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.616G>A; p.A206T; 19:42249496-42249496

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1565G>T; p.G522V; 19:42248547-42248547

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.896delG; p.G299fs*12; 19:42249216-42249216

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.896delG; p.G299fs*12; 19:42249216-42249216

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.157G>A; p.G53R; 19:42250431-42250431

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.415G>A; p.G139S; 19:42249697-42249697

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.204C>T; p.G68G; 19:42250384-42250384

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1523G>T; p.G508V; 19:42248589-42248589

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1259C>T; p.P420L; 19:42248853-42248853

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1624T>G; p.S542A; 19:42248488-42248488

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.65C>G; p.P22R; 19:42250523-42250523

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.175G>A; p.D59N; 19:42250413-42250413

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.839C>T; p.S280L; 19:42249273-42249273

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.839C>T; p.S280L; 19:42249273-42249273

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.502T>C; p.S168P; 19:42249610-42249610

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1166G>T; p.R389L; 19:42248946-42248946

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1086C>A; p.S362S; 19:42249026-42249026

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.797delC; p.P266fs*5; 19:42249315-42249315

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1052C>T; p.P351L; 19:42249060-42249060

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1496delG; p.G499fs*32; 19:42248616-42248616

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1148_1149insC; p.L384fs*17; 19:42248963-42248964

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - Frameshift

c.978C>T; p.L326L; 19:42249134-42249134

 breastcarcinomaSubstitution - coding silent

c.121G>A; p.E41K; 19:42250467-42250467

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1085C>T; p.S362F; 19:42249027-42249027

 skinmalignant_melanomaSubstitution - Missense

c.1350C>A; p.D450E; 19:42248762-42248762

 livercarcinomaSubstitution - Missense

c.525T>C; p.A175A; 19:42249587-42249587

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.973C>A; p.H325N; 19:42249139-42249139

 skinmalignant_melanomaSubstitution - Missense

c.659C>A; p.P220H; 19:42249453-42249453

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.912C>T; p.S304S; 19:42249200-42249200

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1491T>C; p.G497G; 19:42248621-42248621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.463C>A; p.P155T; 19:42249649-42249649

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1083_1084insC; p.S362fs*17; 19:42249028-42249029

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - Frameshift

c.1573C>T; p.L525F; 19:42248539-42248539

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.840G>A; p.S280S; 19:42249272-42249272

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.492C>T; p.A164A; 19:42249620-42249620

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1362C>A; p.F454L; 19:42248750-42248750

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.575G>A; p.G192D; 19:42249537-42249537

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1617C>T; p.A539A; 19:42248495-42248495

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.789delG; p.Q263fs*8; 19:42249323-42249323

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1541G>A; p.R514H; 19:42248571-42248571

 breastcarcinomaSubstitution - Missense

c.96T>G; p.F32L; 19:42250492-42250492

 skinmalignant_melanomaSubstitution - Missense

c.1575C>G; p.L525L; 19:42248537-42248537

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.854C>T; p.P285L; 19:42249258-42249258

 skinmalignant_melanomaSubstitution - Missense

c.1046C>A; p.P349Q; 19:42249066-42249066

 stomachadenocarcinomaSubstitution - Missense

c.1103C>T; p.S368F; 19:42249009-42249009

 skinmalignant_melanomaSubstitution - Missense

c.1614G>A; p.T538T; 19:42248498-42248498

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1553C>T; p.P518L; 19:42248559-42248559

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1100C>T; p.S367F; 19:42249012-42249012

 skinmalignant_melanomaSubstitution - Missense

c.408G>A; p.P136P; 19:42249704-42249704

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.478C>T; p.R160C; 19:42249634-42249634

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1275C>T; p.I425I; 19:42248837-42248837

 skinmalignant_melanomaSubstitution - coding silent

c.1237G>A; p.A413T; 19:42248875-42248875

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1237G>A; p.A413T; 19:42248875-42248875

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1478G>A; p.R493H; 19:42248634-42248634

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1237G>A; p.A413T; 19:42248875-42248875

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1300G>A; p.E434K; 19:42248812-42248812

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1222G>A; p.G408R; 19:42248890-42248890

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.199T>G; p.W67G; 19:42250389-42250389

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.209G>A; p.R70H; 19:42250379-42250379

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.199T>G; p.W67G; 19:42250389-42250389

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.619C>T; p.R207*; 19:42249493-42249493

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.23-1G>T; p.?; 19:42250566-42250566

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.370G>A; p.A124T; 19:42249830-42249830

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1430G>A; p.C477Y; 19:42248682-42248682

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1094C>T; p.S365L; 19:42249018-42249018

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1460G>T; p.R487L; 19:42248652-42248652

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.981C>T; p.S327S; 19:42249131-42249131

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1095G>A; p.S365S; 19:42249017-42249017

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1334A>C; p.D445A; 19:42248778-42248778

 skinmalignant_melanomaSubstitution - Missense

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