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

Basic Information

Gene ID

80198

Name

MUS81

Synonymous

MUS81 structure-specific endonuclease subunit;MUS81;MUS81 structure-specific endonuclease subunit

Definition

MUS81 endonuclease homolog|SLX3 structure-specific endonuclease subunit homolog|crossover junction endonuclease MUS81

Position

11q13

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 0.05.

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.1329C>T; p.A443A; 11:65865073-65865073

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1647C>T; p.P549P; 11:65866043-65866043

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.938A>C; p.Q313P; 11:65863698-65863698

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1437G>A; p.L479L; 11:65865255-65865255

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1290C>T; p.S430S; 11:65865034-65865034

 skinmalignant_melanomaSubstitution - coding silent

c.163C>T; p.L55L; 11:65861000-65861000

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1537C>T; p.P513S; 11:65865842-65865842

 skinmalignant_melanomaSubstitution - Missense

c.325G>T; p.A109S; 11:65861409-65861409

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1055A>G; p.Q352R; 11:65863897-65863897

 skinmalignant_melanomaSubstitution - Missense

c.460G>A; p.G154S; 11:65862220-65862220

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1491C>G; p.Y497*; 11:65865309-65865309

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.961G>A; p.A321T; 11:65863721-65863721

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1282C>A; p.L428I; 11:65865026-65865026

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.724C>T; p.P242S; 11:65863183-65863183

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.546G>T; p.W182C; 11:65862470-65862470

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1116T>C; p.G372G; 11:65864553-65864553

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.268G>A; p.D90N; 11:65861352-65861352

 skinmalignant_melanomaSubstitution - Missense

c.1187G>T; p.G396V; 11:65864730-65864730

 breastcarcinomaSubstitution - Missense

c.1589+3G>A; p.?; 11:65865897-65865897

 breastcarcinomaUnknown

c.312G>A; p.P104P; 11:65861396-65861396

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.889A>G; p.T297A; 11:65863649-65863649

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.666G>T; p.L222L; 11:65863125-65863125

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.352G>C; p.V118L; 11:65861947-65861947

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.244C>T; p.Q82*; 11:65861081-65861081

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1273-2A>G; p.?; 11:65865015-65865015

 stomachcarcinoma; adenocarcinomaUnknown

c.1316C>T; p.P439L; 11:65865060-65865060

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.442G>A; p.E148K; 11:65862037-65862037

 skinmalignant_melanomaSubstitution - Missense

c.1579C>T; p.R527C; 11:65865884-65865884

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1579C>T; p.R527C; 11:65865884-65865884

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.806T>C; p.V269A; 11:65863469-65863469

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1292G>A; p.R431H; 11:65865036-65865036

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1377C>T; p.F459F; 11:65865121-65865121

 skinmalignant_melanomaSubstitution - coding silent

c.998A>T; p.E333V; 11:65863840-65863840

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1065G>A; p.R355R; 11:65864502-65864502

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.791C>A; p.P264H; 11:65863454-65863454

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.260C>T; p.S87L; 11:65861097-65861097

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1064G>A; p.R355Q; 11:65864501-65864501

 large_intestine; coloncarcinomaSubstitution - Missense

c.1064G>A; p.R355Q; 11:65864501-65864501

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1291C>T; p.R431C; 11:65865035-65865035

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.936C>T; p.A312A; 11:65863696-65863696

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.936C>T; p.A312A; 11:65863696-65863696

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.152G>A; p.R51Q; 11:65860989-65860989

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.649G>T; p.A217S; 11:65863108-65863108

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.829G>C; p.E277Q; 11:65863492-65863492

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1542G>C; p.K514N; 11:65865847-65865847

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.537T>C; p.A179A; 11:65862461-65862461

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.537T>C; p.A179A; 11:65862461-65862461

 thyroidother; neoplasmSubstitution - coding silent

c.1174C>G; p.Q392E; 11:65864611-65864611

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1448G>A; p.R483H; 11:65865266-65865266

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1448G>A; p.R483H; 11:65865266-65865266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.565C>T; p.L189F; 11:65862489-65862489

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1087C>T; p.R363C; 11:65864524-65864524

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1247C>T; p.T416M; 11:65864790-65864790

 breastcarcinomaSubstitution - Missense

c.913G>A; p.V305I; 11:65863673-65863673

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1048C>T; p.R350W; 11:65863890-65863890

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1310G>T; p.G437V; 11:65865054-65865054

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1414C>T; p.R472*; 11:65865232-65865232

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.939G>T; p.Q313H; 11:65863699-65863699

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1101G>T; p.L367L; 11:65864538-65864538

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.518G>A; p.R173K; 11:65862278-65862278

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.395C>T; p.P132L; 11:65861990-65861990

 breastcarcinomaSubstitution - Missense

c.1035C>T; p.I345I; 11:65863877-65863877

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1273-7C>T; p.?; 11:65865010-65865010

 skin; head_neckmalignant_melanoma; superficial_spreadingUnknown

c.1576G>T; p.G526W; 11:65865881-65865881

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.777A>G; p.P259P; 11:65863440-65863440

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.284C>T; p.S95L; 11:65861368-65861368

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.856G>A; p.E286K; 11:65863616-65863616

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.284C>T; p.S95L; 11:65861368-65861368

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1401+2T>C; p.?; 11:65865147-65865147

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1138C>T; p.P380S; 11:65864575-65864575

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.110G>A; p.R37H; 11:65860863-65860863

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.110G>A; p.R37H; 11:65860863-65860863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.110G>A; p.R37H; 11:65860863-65860863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1450G>A; p.G484R; 11:65865268-65865268

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1088G>A; p.R363H; 11:65864525-65864525

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1038C>T; p.D346D; 11:65863880-65863880

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.356C>T; p.P119L; 11:65861951-65861951

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1509C>T; p.L503L; 11:65865814-65865814

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.461G>A; p.G154D; 11:65862221-65862221

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.837G>T; p.R279R; 11:65863500-65863500

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.539G>C; p.R180P; 11:65862463-65862463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.539G>C; p.R180P; 11:65862463-65862463

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.539G>C; p.R180P; 11:65862463-65862463

 thyroidother; neoplasmSubstitution - Missense

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