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

Basic Information

Gene ID

10771

Name

ZMYND11

Synonymous

zinc finger, MYND-type containing 11;ZMYND11;zinc finger, MYND-type containing 11

Definition

adenovirus 5 E1A-binding protein|bone morphogenetic protein receptor-associated molecule 1|zinc finger MYND domain-containing protein 11

Position

10p14

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

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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 0.16.

The copy number variations for various cancers

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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.247C>T; p.H83Y; 10:221285-221285

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.247C>T; p.H83Y; 10:221285-221285

 skinmalignant_melanomaSubstitution - Missense

c.247C>T; p.H83Y; 10:221285-221285

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1051C>G; p.Q351E; 10:247410-247410

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1076_1092del17; p.R360fs*9; 10:247435-247451

 breastcarcinomaDeletion - Frameshift

c.157-1G>A; p.?; 10:221194-221194

 skin; extremitymalignant_melanomaUnknown

c.526T>C; p.F176L; 10:239474-239474

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1656G>A; p.A552A; 10:252437-252437

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.169G>C; p.E57Q; 10:221207-221207

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.16G>A; p.G6S; 10:209908-209908

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.139T>A; p.L47M; 10:210031-210031

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.602C>T; p.A201V; 10:240080-240080

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.602C>T; p.A201V; 10:240080-240080

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.602C>T; p.A201V; 10:240080-240080

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.714A>G; p.I238M; 10:242023-242023

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1676G>A; p.R559H; 10:252457-252457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1616C>A; p.S539Y; 10:252397-252397

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.90A>T; p.T30T; 10:209982-209982

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1157C>T; p.T386M; 10:248385-248385

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.548T>C; p.L183P; 10:239496-239496

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.270G>C; p.E90D; 10:221308-221308

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1076G>T; p.R359L; 10:247435-247435

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.958G>A; p.G320R; 10:246893-246893

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1218T>G; p.S406S; 10:248446-248446

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1516C>T; p.L506L; 10:249038-249038

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.461C>G; p.S154*; 10:237649-237649

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.1407G>A; p.K469K; 10:248929-248929

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.327G>C; p.K109N; 10:236846-236846

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.178G>C; p.D60H; 10:221216-221216

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1093G>T; p.E365*; 10:247452-247452

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1355G>A; p.R452H; 10:248583-248583

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.461C>T; p.S154L; 10:237649-237649

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.726G>A; p.E242E; 10:242035-242035

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1019C>T; p.S340F; 10:246954-246954

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.351G>A; p.E117E; 10:236870-236870

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1215C>A; p.A405A; 10:248443-248443

 kidneyother; neoplasmSubstitution - coding silent

c.169G>A; p.E57K; 10:221207-221207

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1372C>A; p.L458M; 10:248600-248600

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1235A>G; p.H412R; 10:248463-248463

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.881G>A; p.R294Q; 10:246816-246816

 NSmalignant_melanomaSubstitution - Missense

c.758T>G; p.F253C; 10:242067-242067

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.99C>T; p.C33C; 10:209991-209991

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.669C>T; p.Y223Y; 10:240928-240928

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1107+5G>A; p.?; 10:247471-247471

 livercarcinomaUnknown

c.1669A>G; p.T557A; 10:252450-252450

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.810C>A; p.F270L; 10:242119-242119

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.31G>T; p.E11*; 10:209923-209923

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.1074A>G; p.G358G; 10:247433-247433

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1585G>A; p.E529K; 10:252366-252366

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.799G>A; p.D267N; 10:242108-242108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.856C>G; p.Q286E; 10:246791-246791

 breastcarcinomaSubstitution - Missense

c.1675C>T; p.R559C; 10:252456-252456

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1501G>C; p.E501Q; 10:249023-249023

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1567T>C; p.C523R; 10:252348-252348

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.265G>C; p.D89H; 10:221303-221303

 pancreascarcinomaSubstitution - Missense

c.798C>T; p.V266V; 10:242107-242107

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.79G>A; p.E27K; 10:209971-209971

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.307C>T; p.P103S; 10:221345-221345

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1238G>A; p.R413Q; 10:248466-248466

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.484C>G; p.Q162E; 10:237672-237672

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.157-1G>T; p.?; 10:221194-221194

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1166A>C; p.Q389P; 10:248394-248394

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.18T>C; p.G6G; 10:209910-209910

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1639C>T; p.Q547*; 10:252420-252420

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.870C>A; p.V290V; 10:246805-246805

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.801C>T; p.D267D; 10:242110-242110

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.258T>C; p.C86C; 10:221296-221296

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1385G>A; p.R462H; 10:248907-248907

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.904G>T; p.G302C; 10:246839-246839

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1187T>C; p.V396A; 10:248415-248415

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.572A>T; p.Y191F; 10:239520-239520

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.683G>A; p.R228H; 10:240942-240942

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.235T>G; p.F79V; 10:221273-221273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.543A>G; p.Q181Q; 10:239491-239491

 central_nervous_system; braingliomaSubstitution - coding silent

c.245A>G; p.Y82C; 10:221283-221283

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.152A>G; p.E51G; 10:210044-210044

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.152A>G; p.E51G; 10:210044-210044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1667G>A; p.R556H; 10:252448-252448

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.103G>T; p.G35C; 10:209995-209995

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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