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

Basic Information

Gene ID

254394

Name

MCM9

Synonymous

minichromosome maintenance complex component 9;MCM9;minichromosome maintenance complex component 9

Definition

DNA helicase MCM9|DNA replication licensing factor MCM9|mini-chromosome maintenance deficient domain-containing protein 1

Position

6q22.31

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

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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 0.06.

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.828A>G; p.S276S; 6:118917637-118917637

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.554G>A; p.C185Y; 6:118923878-118923878

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.503G>T; p.R168L; 6:118923929-118923929

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.625C>A; p.Q209K; 6:118922083-118922083

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.368T>G; p.F123C; 6:118924064-118924064

 thyroidother; neoplasmSubstitution - Missense

c.827C>T; p.S276L; 6:118917638-118917638

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.827C>T; p.S276L; 6:118917638-118917638

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.76C>T; p.L26F; 6:118931648-118931648

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.208G>A; p.D70N; 6:118931516-118931516

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.208G>A; p.D70N; 6:118931516-118931516

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.560C>G; p.S187*; 6:118923872-118923872

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.560C>G; p.S187*; 6:118923872-118923872

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.560C>G; p.S187*; 6:118923872-118923872

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.369T>A; p.F123L; 6:118924063-118924063

 thyroidother; neoplasmSubstitution - Missense

c.367T>A; p.F123I; 6:118924065-118924065

 thyroidother; neoplasmSubstitution - Missense

c.176A>G; p.N59S; 6:118931548-118931548

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.100G>A; p.E34K; 6:118931624-118931624

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1021C>T; p.R341W; 6:118913304-118913304

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.904G>T; p.G302*; 6:118917561-118917561

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.488A>T; p.Y163F; 6:118923944-118923944

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.448T>C; p.C150R; 6:118923984-118923984

 central_nervous_system; braingliomaSubstitution - Missense

c.1015_1016GG>CT; p.G339L; 6:118913309-118913310

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.891C>T; p.S297S; 6:118917574-118917574

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1045T>C; p.L349L; 6:118911755-118911755

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.305-2A>G; p.?; 6:118924129-118924129

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.341T>C; p.I114T; 6:118924091-118924091

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.269T>G; p.V90G; 6:118931455-118931455

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.864C>T; p.F288F; 6:118917601-118917601

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.864C>T; p.F288F; 6:118917601-118917601

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.864C>T; p.F288F; 6:118917601-118917601

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.865G>A; p.E289K; 6:118917600-118917600

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.865G>A; p.E289K; 6:118917600-118917600

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.865G>A; p.E289K; 6:118917600-118917600

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1056G>T; p.G352G; 6:118911744-118911744

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.391A>T; p.I131F; 6:118924041-118924041

 thyroidcarcinomaSubstitution - Missense

c.19A>G; p.T7A; 6:118931705-118931705

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.414T>G; p.V138V; 6:118924018-118924018

 skinmalignant_melanomaSubstitution - coding silent

c.653G>A; p.R218Q; 6:118922055-118922055

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.70G>A; p.D24N; 6:118931654-118931654

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.573G>A; p.S191S; 6:118923859-118923859

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.573G>A; p.S191S; 6:118923859-118923859

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.28G>C; p.G10R; 6:118931696-118931696

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.124G>T; p.V42F; 6:118931600-118931600

 pancreascarcinomaSubstitution - Missense

c.28G>C; p.G10R; 6:118931696-118931696

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.99T>C; p.D33D; 6:118931625-118931625

 pancreascarcinomaSubstitution - coding silent

c.99T>C; p.D33D; 6:118931625-118931625

 pancreascarcinomaSubstitution - coding silent

c.826T>C; p.S276P; 6:118917639-118917639

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.826T>C; p.S276P; 6:118917639-118917639

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.406G>A; p.V136M; 6:118924026-118924026

 pancreascarcinomaSubstitution - Missense

c.406G>A; p.V136M; 6:118924026-118924026

 pancreascarcinomaSubstitution - Missense

c.229G>T; p.A77S; 6:118931495-118931495

 livercarcinomaSubstitution - Missense

c.229G>T; p.A77S; 6:118931495-118931495

 livercarcinomaSubstitution - Missense

c.577C>T; p.P193S; 6:118923855-118923855

 skinmalignant_melanomaSubstitution - Missense

c.1016G>A; p.G339E; 6:118913309-118913309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1072A>G; p.K358E; 6:118911728-118911728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.501C>T; p.C167C; 6:118923931-118923931

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.540C>T; p.S180S; 6:118923892-118923892

 breastcarcinomaSubstitution - coding silent

c.572C>T; p.S191L; 6:118923860-118923860

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.734T>A; p.M245K; 6:118917731-118917731

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1061C>G; p.P354R; 6:118911739-118911739

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.524T>C; p.L175S; 6:118923908-118923908

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1025T>C; p.V342A; 6:118913300-118913300

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1025T>C; p.V342A; 6:118913300-118913300

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1124C>G; p.T375S; 6:118911676-118911676

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.767G>A; p.R256H; 6:118917698-118917698

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.233T>G; p.L78W; 6:118931491-118931491

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1042C>A; p.L348I; 6:118911758-118911758

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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