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

Basic Information

Gene ID

3996

Name

LLGL1

Synonymous

lethal giant larvae homolog 1 (Drosophila);LLGL1;lethal giant larvae homolog 1 (Drosophila)

Definition

human homolog to the D-lgl gene protein|lethal(2) giant larvae protein homolog 1

Position

17p11.2

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.569G>A; p.R190H; 17:18234030-18234030

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.3115G>C; p.G1039R; 17:18242627-18242627

 breastcarcinomaSubstitution - Missense

c.1408C>T; p.L470F; 17:18236662-18236662

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1016G>A; p.R339H; 17:18234949-18234949

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2549C>T; p.T850M; 17:18241497-18241497

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.882T>G; p.I294M; 17:18234680-18234680

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1155A>T; p.P385P; 17:18235183-18235183

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2482G>A; p.A828T; 17:18240853-18240853

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2482G>A; p.A828T; 17:18240853-18240853

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2863C>T; p.R955C; 17:18241980-18241980

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1982G>A; p.R661H; 17:18238144-18238144

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.167G>T; p.G56V; 17:18230026-18230026

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.115G>A; p.A39T; 17:18229974-18229974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.179+1G>A; p.?; 17:18230039-18230039

 pancreascarcinomaUnknown

c.364C>T; p.P122S; 17:18232774-18232774

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.535G>A; p.G179S; 17:18233920-18233920

 livercarcinomaSubstitution - Missense

c.535G>A; p.G179S; 17:18233920-18233920

 livercarcinomaSubstitution - Missense

c.1769G>A; p.R590H; 17:18237638-18237638

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.535G>A; p.G179S; 17:18233920-18233920

 livercarcinomaSubstitution - Missense

c.1769G>A; p.R590H; 17:18237638-18237638

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1769G>A; p.R590H; 17:18237638-18237638

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2245T>C; p.S749P; 17:18240616-18240616

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.819G>A; p.T273T; 17:18234377-18234377

 skinmalignant_melanomaSubstitution - coding silent

c.2329G>A; p.V777M; 17:18240700-18240700

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.681G>A; p.S227S; 17:18234142-18234142

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.650G>A; p.R217Q; 17:18234111-18234111

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1929C>T; p.S643S; 17:18238091-18238091

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.255C>T; p.T85T; 17:18232570-18232570

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.764C>T; p.S255L; 17:18234322-18234322

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.265C>T; p.R89C; 17:18232675-18232675

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.547C>T; p.R183C; 17:18233932-18233932

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1749G>A; p.W583*; 17:18237618-18237618

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Nonsense

c.1677C>T; p.L559L; 17:18237546-18237546

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1618G>A; p.V540I; 17:18237487-18237487

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2224A>G; p.T742A; 17:18240595-18240595

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.915T>C; p.F305F; 17:18234848-18234848

 livercarcinomaSubstitution - coding silent

c.1230C>A; p.A410A; 17:18235258-18235258

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2665G>A; p.V889I; 17:18241613-18241613

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1214C>G; p.P405R; 17:18235242-18235242

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1214C>G; p.P405R; 17:18235242-18235242

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1501C>T; p.R501C; 17:18236755-18236755

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1501C>T; p.R501C; 17:18236755-18236755

 oesophaguscarcinomaSubstitution - Missense

c.1968C>T; p.L656L; 17:18238130-18238130

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1947G>A; p.P649P; 17:18238109-18238109

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.359A>G; p.Q120R; 17:18232769-18232769

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.210C>T; p.G70G; 17:18232525-18232525

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.714+5G>A; p.?; 17:18234180-18234180

 pancreascarcinomaUnknown

c.647G>A; p.S216N; 17:18234108-18234108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2662C>A; p.H888N; 17:18241610-18241610

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2865C>T; p.R955R; 17:18241982-18241982

 breastcarcinomaSubstitution - coding silent

c.2742G>A; p.S914S; 17:18241690-18241690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2865C>T; p.R955R; 17:18241982-18241982

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1395G>A; p.V465V; 17:18236649-18236649

 skinmalignant_melanomaSubstitution - coding silent

c.939C>T; p.P313P; 17:18234872-18234872

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.796G>A; p.V266M; 17:18234354-18234354

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2820G>C; p.R940R; 17:18241937-18241937

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2737G>A; p.A913T; 17:18241685-18241685

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2687G>A; p.R896Q; 17:18241635-18241635

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.980G>A; p.R327Q; 17:18234913-18234913

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.155G>A; p.G52D; 17:18230014-18230014

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1502G>A; p.R501H; 17:18236756-18236756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1242C>T; p.S414S; 17:18235270-18235270

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.442A>G; p.S148G; 17:18233827-18233827

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.139C>T; p.R47C; 17:18229998-18229998

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.442A>G; p.S148G; 17:18233827-18233827

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.442A>G; p.S148G; 17:18233827-18233827

 thyroidother; neoplasmSubstitution - Missense

c.538G>A; p.E180K; 17:18233923-18233923

 prostatecarcinomaSubstitution - Missense

c.607G>A; p.G203R; 17:18234068-18234068

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1713C>T; p.H571H; 17:18237582-18237582

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.455C>T; p.A152V; 17:18233840-18233840

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1725C>T; p.S575S; 17:18237594-18237594

 skinmalignant_melanomaSubstitution - coding silent

c.2741C>T; p.S914L; 17:18241689-18241689

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.561C>T; p.D187D; 17:18234022-18234022

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.358C>T; p.Q120*; 17:18232768-18232768

 skin; armmalignant_melanomaSubstitution - Nonsense

c.97T>C; p.F33L; 17:18229956-18229956

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1657A>T; p.S553C; 17:18237526-18237526

 skinmalignant_melanomaSubstitution - Missense

c.97T>C; p.F33L; 17:18229956-18229956

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.979C>T; p.R327*; 17:18234912-18234912

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2746G>A; p.V916I; 17:18241694-18241694

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.1534G>A; p.D512N; 17:18236862-18236862

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.376G>T; p.G126C; 17:18232786-18232786

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2159C>T; p.S720L; 17:18238562-18238562

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.376G>T; p.G126C; 17:18232786-18232786

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.376G>T; p.G126C; 17:18232786-18232786

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2869G>A; p.A957T; 17:18241986-18241986

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1232G>C; p.R411P; 17:18235260-18235260

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1205C>T; p.A402V; 17:18235233-18235233

 skinmalignant_melanomaSubstitution - Missense

c.2223C>T; p.P741P; 17:18240594-18240594

 skinmalignant_melanomaSubstitution - coding silent

c.2713C>T; p.R905W; 17:18241661-18241661

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1955G>A; p.R652Q; 17:18238117-18238117

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1955G>A; p.R652Q; 17:18238117-18238117

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.104A>G; p.N35S; 17:18229963-18229963

 thyroidother; neoplasmSubstitution - Missense

c.598T>G; p.S200A; 17:18234059-18234059

 skinmalignant_melanomaSubstitution - Missense

c.850+1G>A; p.?; 17:18234409-18234409

 skinmalignant_melanomaUnknown

c.3172G>A; p.A1058T; 17:18242798-18242798

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1657A>G; p.S553G; 17:18237526-18237526

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1054G>A; p.E352K; 17:18234987-18234987

 skinmalignant_melanomaSubstitution - Missense

c.2171G>A; p.R724H; 17:18238574-18238574

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.911A>G; p.H304R; 17:18234844-18234844

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2745C>T; p.C915C; 17:18241693-18241693

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1296C>G; p.I432M; 17:18235481-18235481

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1513T>A; p.C505S; 17:18236841-18236841

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2650C>T; p.L884L; 17:18241598-18241598

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2947C>A; p.P983T; 17:18242230-18242230

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1800T>A; p.A600A; 17:18237669-18237669

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.218G>A; p.R73Q; 17:18232533-18232533

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1107G>T; p.L369L; 17:18235135-18235135

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2371G>T; p.V791L; 17:18240742-18240742

 livercarcinomaSubstitution - Missense

c.2371G>T; p.V791L; 17:18240742-18240742

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2345T>G; p.V782G; 17:18240716-18240716

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1566C>G; p.L522L; 17:18236894-18236894

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.1566C>G; p.L522L; 17:18236894-18236894

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.1565T>C; p.L522P; 17:18236893-18236893

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2345T>G; p.V782G; 17:18240716-18240716

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1299_1300insG; p.R436fs*18; 17:18235484-18235485

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.3155C>A; p.A1052E; 17:18242781-18242781

 breastcarcinomaSubstitution - Missense

c.1293C>T; p.P431P; 17:18235478-18235478

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.2708G>A; p.C903Y; 17:18241656-18241656

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2835G>T; p.P945P; 17:18241952-18241952

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2298T>C; p.G766G; 17:18240669-18240669

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1778T>C; p.V593A; 17:18237647-18237647

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1437C>T; p.F479F; 17:18236691-18236691

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1232G>A; p.R411H; 17:18235260-18235260

 breastcarcinomaSubstitution - Missense

c.280C>A; p.L94I; 17:18232690-18232690

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1805C>T; p.T602I; 17:18237674-18237674

 skinmalignant_melanomaSubstitution - Missense

c.2286A>G; p.A762A; 17:18240657-18240657

 skinmalignant_melanomaSubstitution - coding silent

c.2756G>A; p.R919H; 17:18241704-18241704

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 17:18232545-18232545

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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