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

Basic Information

Gene ID

863

Name

CBFA2T3

Synonymous

core-binding factor, runt domain, alpha subunit 2; translocated to, 3;CBFA2T3;core-binding factor, runt domain, alpha subunit 2; translocated to, 3

Definition

MTG8-related gene 2|MTG8-related protein 2|myeloid translocation gene 8 and 16b|myeloid translocation gene on chromosome 16 protein|protein CBFA2T3|zinc finger MYND domain-containing protein 4

Position

16q24

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 0.02.

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.1146G>T; p.V382V; 16:88882733-88882733

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.190G>A; p.D64N; 16:88901618-88901618

 skinmalignant_melanomaSubstitution - Missense

c.755G>A; p.R252H; 16:88886099-88886099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.259G>A; p.A87T; 16:88901549-88901549

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.595G>A; p.V199M; 16:88892270-88892270

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.427T>C; p.C143R; 16:88892438-88892438

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.296C>T; p.P99L; 16:88901512-88901512

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.689C>T; p.P230L; 16:88891904-88891904

 livercarcinomaSubstitution - Missense

c.640G>A; p.E214K; 16:88891953-88891953

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.498C>T; p.P166P; 16:88892367-88892367

 skinmalignant_melanomaSubstitution - coding silent

c.640G>A; p.E214K; 16:88891953-88891953

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.640G>A; p.E214K; 16:88891953-88891953

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.640G>A; p.E214K; 16:88891953-88891953

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.689C>T; p.P230L; 16:88891904-88891904

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1530G>A; p.S510S; 16:88879402-88879402

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1537G>C; p.E513Q; 16:88879395-88879395

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1601C>T; p.A534V; 16:88879331-88879331

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1601C>T; p.A534V; 16:88879331-88879331

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.589G>A; p.E197K; 16:88892276-88892276

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1324G>A; p.E442K; 16:88881369-88881369

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.916C>A; p.R306S; 16:88885247-88885247

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.316G>A; p.G106R; 16:88898141-88898141

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.304C>T; p.H102Y; 16:88901504-88901504

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1103G>C; p.R368P; 16:88885060-88885060

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1061G>A; p.R354Q; 16:88885102-88885102

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1660G>A; p.E554K; 16:88879272-88879272

 skinmalignant_melanomaSubstitution - Missense

c.1660G>A; p.E554K; 16:88879272-88879272

 skinmalignant_melanomaSubstitution - Missense

c.1660G>A; p.E554K; 16:88879272-88879272

 ovaryother; neoplasmSubstitution - Missense

c.1582G>C; p.E528Q; 16:88879350-88879350

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1551C>T; p.H517H; 16:88879381-88879381

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.515G>A; p.R172Q; 16:88892350-88892350

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.789C>T; p.A263A; 16:88886065-88886065

 skinmalignant_melanomaSubstitution - coding silent

c.1069T>C; p.Y357H; 16:88885094-88885094

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1552G>T; p.E518*; 16:88879380-88879380

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.835G>A; p.D279N; 16:88886019-88886019

 breastcarcinomaSubstitution - Missense

c.813C>T; p.D271D; 16:88886041-88886041

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.813C>T; p.D271D; 16:88886041-88886041

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.609G>A; p.V203V; 16:88892256-88892256

 central_nervous_system; braingliomaSubstitution - coding silent

c.609G>A; p.V203V; 16:88892256-88892256

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.249A>T; p.P83P; 16:88901559-88901559

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1703G>A; p.S568N; 16:88877235-88877235

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaSubstitution - Missense

c.1305G>A; p.A435A; 16:88881388-88881388

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1377C>T; p.S459S; 16:88881316-88881316

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.511G>A; p.A171T; 16:88892354-88892354

 skinmalignant_melanomaSubstitution - Missense

c.1029C>T; p.R343R; 16:88885134-88885134

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.635C>T; p.T212M; 16:88891958-88891958

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1405G>A; p.V469M; 16:88880786-88880786

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.952C>T; p.P318S; 16:88885211-88885211

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1912C>T; p.R638C; 16:88877026-88877026

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.508G>A; p.G170R; 16:88892357-88892357

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.285_286insC; p.S96fs*171; 16:88901522-88901523

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1028G>A; p.R343H; 16:88885135-88885135

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.304+1G>T; p.?; 16:88901503-88901503

 prostatecarcinoma; adenocarcinomaUnknown

c.388G>A; p.G130S; 16:88892477-88892477

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.888delC; p.D297fs*25; 16:88885966-88885966

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.307C>T; p.R103*; 16:88898150-88898150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.544A>G; p.T182A; 16:88892321-88892321

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.592C>T; p.R198C; 16:88892273-88892273

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.722C>T; p.P241L; 16:88886132-88886132

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaSubstitution - Missense

c.1557C>T; p.L519L; 16:88879375-88879375

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1557C>T; p.L519L; 16:88879375-88879375

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1531G>A; p.D511N; 16:88879401-88879401

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1531G>A; p.D511N; 16:88879401-88879401

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.268G>A; p.G90R; 16:88901540-88901540

 skinmalignant_melanomaSubstitution - Missense

c.269G>A; p.G90E; 16:88901539-88901539

 skinmalignant_melanomaSubstitution - Missense

c.1081G>A; p.D361N; 16:88885082-88885082

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.664G>A; p.E222K; 16:88891929-88891929

 skinmalignant_melanomaSubstitution - Missense

c.1496G>A; p.R499Q; 16:88879436-88879436

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.43delT; p.S15fs*55; 16:88976765-88976765

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningDeletion - Frameshift

c.968C>T; p.P323L; 16:88885195-88885195

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1084C>T; p.P362S; 16:88885079-88885079

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1529C>G; p.S510W; 16:88879403-88879403

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1240C>T; p.R414W; 16:88881453-88881453

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1240C>T; p.R414W; 16:88881453-88881453

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.228A>G; p.T76T; 16:88901580-88901580

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.846G>A; p.E282E; 16:88886008-88886008

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.846G>A; p.E282E; 16:88886008-88886008

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.250C>T; p.P84S; 16:88901558-88901558

 skinmalignant_melanomaSubstitution - Missense

c.1206C>T; p.L402L; 16:88881487-88881487

 skinmalignant_melanomaSubstitution - coding silent

c.1103G>A; p.R368H; 16:88885060-88885060

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1103G>A; p.R368H; 16:88885060-88885060

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.438C>T; p.N146N; 16:88892427-88892427

 stomachadenocarcinomaSubstitution - coding silent

c.706C>T; p.L236L; 16:88891887-88891887

 skinmalignant_melanomaSubstitution - coding silent

c.195C>T; p.S65S; 16:88901613-88901613

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.619G>T; p.V207L; 16:88892246-88892246

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1600G>A; p.A534T; 16:88879332-88879332

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1087delC; p.R363fs*20; 16:88885076-88885076

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.967C>T; p.P323S; 16:88885196-88885196

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1279G>T; p.D427Y; 16:88881414-88881414

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.253C>T; p.P85S; 16:88901555-88901555

 central_nervous_system; braingliomaSubstitution - Missense

c.1238C>T; p.T413M; 16:88881455-88881455

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.919G>A; p.D307N; 16:88885244-88885244

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.172A>T; p.K58*; 16:88901636-88901636

 skinmalignant_melanomaSubstitution - Nonsense

c.964A>G; p.N322D; 16:88885199-88885199

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321G>T; p.A441S; 16:88881372-88881372

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.926T>C; p.L309P; 16:88885237-88885237

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1113G>A; p.P371P; 16:88885050-88885050

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.188C>T; p.P63L; 16:88901620-88901620

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.154C>A; p.P52T; 16:88901654-88901654

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.917G>A; p.R306H; 16:88885246-88885246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.917G>A; p.R306H; 16:88885246-88885246

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.907G>A; p.G303R; 16:88885256-88885256

 skinmalignant_melanomaSubstitution - Missense

c.599G>A; p.R200H; 16:88892266-88892266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1958G>A; p.R653H; 16:88876980-88876980

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.834C>T; p.I278I; 16:88886020-88886020

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1958G>A; p.R653H; 16:88876980-88876980

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1958G>A; p.R653H; 16:88876980-88876980

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1042G>T; p.A348S; 16:88885121-88885121

 skinmalignant_melanomaSubstitution - Missense

c.1958G>A; p.R653H; 16:88876980-88876980

 pancreascarcinomaSubstitution - Missense

c.1631C>T; p.T544M; 16:88879301-88879301

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1631C>T; p.T544M; 16:88879301-88879301

 bone; femurchondrosarcomaSubstitution - Missense

c.308G>C; p.R103P; 16:88898149-88898149

 breastcarcinomaSubstitution - Missense

c.685C>T; p.R229W; 16:88891908-88891908

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1715C>T; p.A572V; 16:88877223-88877223

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.212C>G; p.T71R; 16:88901596-88901596

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1534G>A; p.A512T; 16:88879398-88879398

 pancreascarcinomaSubstitution - Missense

c.1073G>A; p.R358H; 16:88885090-88885090

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.708G>A; p.L236L; 16:88891885-88891885

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1073G>A; p.R358H; 16:88885090-88885090

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1073G>A; p.R358H; 16:88885090-88885090

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.864C>T; p.N288N; 16:88885990-88885990

 livercarcinomaSubstitution - coding silent

c.864C>T; p.N288N; 16:88885990-88885990

 livercarcinomaSubstitution - coding silent

c.514C>T; p.R172W; 16:88892351-88892351

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.138G>A; p.R46R; 16:88976670-88976670

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1508C>T; p.S503L; 16:88879424-88879424

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1500G>T; p.Q500H; 16:88879432-88879432

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.984C>G; p.S328R; 16:88885179-88885179

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.618G>A; p.L206L; 16:88892247-88892247

 skinmalignant_melanomaSubstitution - coding silent

c.1779C>A; p.G593G; 16:88877159-88877159

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1088G>A; p.R363Q; 16:88885075-88885075

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.291C>T; p.F97F; 16:88901517-88901517

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1552G>A; p.E518K; 16:88879380-88879380

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1552G>A; p.E518K; 16:88879380-88879380

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

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