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

Basic Information

Gene ID

4335

Name

MNT

Synonymous

MAX network transcriptional repressor;MNT;MAX network transcriptional repressor

Definition

MAX binding protein|MNT, MAX dimerization protein|Max-interacting protein|class D basic helix-loop-helix protein 3|max-binding protein MNT|myc antagonist MNT

Position

17p13.3

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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.26.

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.378C>T; p.A126A; 17:2395150-2395150

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1695T>C; p.P565P; 17:2386955-2386955

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1695T>C; p.P565P; 17:2386955-2386955

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.565delC; p.Q189fs*11; 17:2394963-2394963

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1696G>A; p.V566M; 17:2386954-2386954

pancreascarcinomaSubstitution - Missense

c.653+1delG; p.?; 17:2394874-2394874

skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.321G>T; p.L107F; 17:2395207-2395207

thyroidother; neoplasmSubstitution - Missense

c.1600G>T; p.G534C; 17:2387050-2387050

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.771T>C; p.N257N; 17:2394079-2394079

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1499A>G; p.H500R; 17:2387151-2387151

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.409delC; p.L137fs*38; 17:2395119-2395119

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.2T>C; p.M1T; 17:2400711-2400711

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.560C>G; p.A187G; 17:2394968-2394968

skinmalignant_melanomaSubstitution - Missense

c.1542C>A; p.P514P; 17:2387108-2387108

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.767C>T; p.S256F; 17:2394083-2394083

skin; nipplemalignant_melanomaSubstitution - Missense

c.1445C>T; p.A482V; 17:2387205-2387205

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1667A>C; p.Q556P; 17:2386983-2386983

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.375C>T; p.G125G; 17:2395153-2395153

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1175C>T; p.P392L; 17:2387475-2387475

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1686delG; p.L563fs*4; 17:2386964-2386964

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaDeletion - Frameshift

c.616G>T; p.E206*; 17:2394912-2394912

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1238C>T; p.P413L; 17:2387412-2387412

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.186G>A; p.A62A; 17:2395342-2395342

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1238C>T; p.P413L; 17:2387412-2387412

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1308T>G; p.G436G; 17:2387342-2387342

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1405C>A; p.H469N; 17:2387245-2387245

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1040G>T; p.R347L; 17:2387610-2387610

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1247C>T; p.P416L; 17:2387403-2387403

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1391G>A; p.G464D; 17:2387259-2387259

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.481G>T; p.G161C; 17:2395047-2395047

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.325G>A; p.A109T; 17:2395203-2395203

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.325G>A; p.A109T; 17:2395203-2395203

thyroidother; neoplasmSubstitution - Missense

c.1138C>T; p.P380S; 17:2387512-2387512

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1574C>A; p.S525*; 17:2387076-2387076

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1367A>G; p.N456S; 17:2387283-2387283

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.176G>T; p.R59L; 17:2395352-2395352

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1307delG; p.G436fs*20; 17:2387343-2387343

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.513G>A; p.T171T; 17:2395015-2395015

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.255_256insC; p.L86fs*47; 17:2395272-2395273

skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.1678C>T; p.Q560*; 17:2386972-2386972

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.865A>G; p.K289E; 17:2387992-2387992

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.225A>C; p.A75A; 17:2395303-2395303

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.99G>T; p.E33D; 17:2395429-2395429

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.847G>C; p.E283Q; 17:2388010-2388010

breastcarcinomaSubstitution - Missense

c.1A>T; p.M1L; 17:2400712-2400712

large_intestine; coloncarcinomaSubstitution - Missense

c.1361C>T; p.T454I; 17:2387289-2387289

skinmalignant_melanomaSubstitution - Missense

c.1460_1461CC>TT; p.P487L; 17:2387189-2387190

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.189A>C; p.P63P; 17:2395339-2395339

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1371C>T; p.H457H; 17:2387279-2387279

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.647_648CC>TT; p.P216L; 17:2394880-2394881

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1180G>C; p.A394P; 17:2387470-2387470

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.565_566insC; p.Q189fs*17; 17:2394962-2394963

autonomic_ganglianeuroblastomaInsertion - Frameshift

c.1333G>A; p.A445T; 17:2387317-2387317

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1433C>T; p.A478V; 17:2387217-2387217

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1434G>A; p.A478A; 17:2387216-2387216

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1541C>T; p.P514L; 17:2387109-2387109

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1410C>T; p.I470I; 17:2387240-2387240

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.453G>A; p.P151P; 17:2395075-2395075

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1411G>A; p.A471T; 17:2387239-2387239

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1517C>T; p.S506F; 17:2387133-2387133

breastcarcinomaSubstitution - Missense

c.1053C>A; p.G351G; 17:2387597-2387597

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1005T>C; p.G335G; 17:2387645-2387645

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.295C>T; p.Q99*; 17:2395233-2395233

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.207A>G; p.P69P; 17:2395321-2395321

thyroidother; neoplasmSubstitution - coding silent

c.207A>G; p.P69P; 17:2395321-2395321

thyroidother; neoplasmSubstitution - coding silent

c.207A>G; p.P69P; 17:2395321-2395321

thyroidother; neoplasmSubstitution - coding silent

c.1113delC; p.S372fs*84; 17:2387537-2387537

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1575G>A; p.S525S; 17:2387075-2387075

oesophaguscarcinomaSubstitution - coding silent

c.1575G>A; p.S525S; 17:2387075-2387075

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1081C>T; p.P361S; 17:2387569-2387569

skinmalignant_melanomaSubstitution - Missense

c.1746T>G; p.A582A; 17:2386904-2386904

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.530C>T; p.A177V; 17:2394998-2394998

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.572C>T; p.P191L; 17:2394956-2394956

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.690G>C; p.K230N; 17:2394310-2394310

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1561G>A; p.A521T; 17:2387089-2387089

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1561G>A; p.A521T; 17:2387089-2387089

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.942C>T; p.R314R; 17:2387915-2387915

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1172T>C; p.L391P; 17:2387478-2387478

skinmalignant_melanomaSubstitution - Missense

c.1661A>G; p.H554R; 17:2386989-2386989

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1402G>A; p.A468T; 17:2387248-2387248

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1402G>A; p.A468T; 17:2387248-2387248

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.191C>T; p.P64L; 17:2395337-2395337

skinmalignant_melanomaSubstitution - Missense

c.175C>T; p.R59C; 17:2395353-2395353

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense


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