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

Basic Information

Gene ID

286826

Name

LIN9

Synonymous

lin-9 DREAM MuvB core complex component;LIN9;lin-9 DREAM MuvB core complex component

Definition

TUDOR gene similar protein|beta subunit-associated regulator of apoptosis|lin-9 homolog|pRB-associated protein|protein lin-9 homolog|rb related pathway actor|type I interferon receptor beta chain-associated protein

Position

1q42.12

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 0.10.

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.1013C>T; p.P338L; 1:226265606-226265606

 skinmalignant_melanomaSubstitution - Missense

c.1665C>T; p.T555T; 1:226232513-226232513

 pancreascarcinomaSubstitution - coding silent

c.547C>T; p.R183W; 1:226286358-226286358

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.547C>T; p.R183W; 1:226286358-226286358

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.547C>T; p.R183W; 1:226286358-226286358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.547C>T; p.R183W; 1:226286358-226286358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.547C>T; p.R183W; 1:226286358-226286358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.547C>T; p.R183W; 1:226286358-226286358

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.739C>T; p.R247C; 1:226268082-226268082

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.152C>A; p.S51Y; 1:226297774-226297774

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.984+1G>A; p.?; 1:226266212-226266212

 lungcarcinoma; small_cell_carcinomaUnknown

c.1361_1363delAAG; p.E454delE; 1:226233454-226233456

 breastcarcinomaDeletion - In frame

c.227G>A; p.R76Q; 1:226295927-226295927

 skinmalignant_melanomaSubstitution - Missense

c.227G>A; p.R76Q; 1:226295927-226295927

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1244A>G; p.N415S; 1:226239020-226239020

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.876T>A; p.P292P; 1:226266321-226266321

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1126A>G; p.I376V; 1:226250880-226250880

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1126A>G; p.I376V; 1:226250880-226250880

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1185C>T; p.P395P; 1:226239079-226239079

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.233G>A; p.R78Q; 1:226295921-226295921

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.108A>G; p.L36L; 1:226301177-226301177

 pancreascarcinomaSubstitution - coding silent

c.108A>G; p.L36L; 1:226301177-226301177

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.313-10delT; p.?; 1:226287807-226287807

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.513A>T; p.T171T; 1:226286392-226286392

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.581C>T; p.S194F; 1:226277924-226277924

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1204C>T; p.R402W; 1:226239060-226239060

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.783G>A; p.V261V; 1:226268038-226268038

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.598G>C; p.E200Q; 1:226277907-226277907

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.232C>T; p.R78*; 1:226295922-226295922

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.18G>C; p.Q6H; 1:226309170-226309170

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.11_12insGCA; p.G4_G5insH; 1:226309176-226309177

 ovarycarcinoma; serous_carcinomaInsertion - In frame

c.1160A>C; p.E387A; 1:226250846-226250846

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1037C>T; p.S346F; 1:226265582-226265582

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.377G>A; p.R126H; 1:226287733-226287733

 livercarcinomaSubstitution - Missense

c.1153G>A; p.E385K; 1:226250853-226250853

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.277C>G; p.P93A; 1:226295877-226295877

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1153G>A; p.E385K; 1:226250853-226250853

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1289A>G; p.Y430C; 1:226238975-226238975

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1557C>T; p.D519D; 1:226233110-226233110

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.131C>T; p.T44M; 1:226297795-226297795

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.474C>T; p.F158F; 1:226286431-226286431

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.313-1G>A; p.?; 1:226287798-226287798

 stomachcarcinoma; adenocarcinomaUnknown

c.1069G>C; p.E357Q; 1:226265550-226265550

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.376C>T; p.R126C; 1:226287734-226287734

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.376C>T; p.R126C; 1:226287734-226287734

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.376C>T; p.R126C; 1:226287734-226287734

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1248G>A; p.K416K; 1:226239016-226239016

 breastcarcinomaSubstitution - coding silent

c.1596C>T; p.I532I; 1:226232582-226232582

 skinmalignant_melanomaSubstitution - coding silent

c.1603G>A; p.A535T; 1:226232575-226232575

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1378C>T; p.R460W; 1:226233439-226233439

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1378C>T; p.R460W; 1:226233439-226233439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.37G>T; p.G13C; 1:226309151-226309151

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1010C>A; p.S337*; 1:226265609-226265609

 ovaryother; neoplasmSubstitution - Nonsense

c.1558G>A; p.A520T; 1:226233109-226233109

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.97C>T; p.L33F; 1:226301188-226301188

 skinmalignant_melanomaSubstitution - Missense

c.1017G>C; p.W339C; 1:226265602-226265602

 skinmalignant_melanomaSubstitution - Missense

c.1017G>C; p.W339C; 1:226265602-226265602

 skinmalignant_melanomaSubstitution - Missense

c.1321G>A; p.A441T; 1:226233496-226233496

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1325A>T; p.D442V; 1:226233492-226233492

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.421G>C; p.E141Q; 1:226287689-226287689

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.215G>C; p.R72T; 1:226295939-226295939

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1122A>G; p.E374E; 1:226250884-226250884

 pancreascarcinomaSubstitution - coding silent

c.916C>T; p.R306W; 1:226266281-226266281

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.916C>T; p.R306W; 1:226266281-226266281

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.916C>T; p.R306W; 1:226266281-226266281

 prostatecarcinomaSubstitution - Missense

c.916C>T; p.R306W; 1:226266281-226266281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.20C>T; p.P7L; 1:226309168-226309168

 skinmalignant_melanomaSubstitution - Missense

c.452T>G; p.L151R; 1:226286453-226286453

 breastcarcinomaSubstitution - Missense

c.1204C>A; p.R402R; 1:226239060-226239060

 breastcarcinomaSubstitution - coding silent

c.1418_1424delATGAAAA; p.N473fs*2; 1:226233393-226233399

 breastcarcinomaDeletion - Frameshift

c.1202A>G; p.Q401R; 1:226239062-226239062

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.681T>C; p.D227D; 1:226277824-226277824

 livercarcinomaSubstitution - coding silent

c.1597C>T; p.H533Y; 1:226232581-226232581

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1614G>T; p.Q538H; 1:226232564-226232564

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.926G>A; p.R309Q; 1:226266271-226266271

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.530T>C; p.V177A; 1:226286375-226286375

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1276C>T; p.Q426*; 1:226238988-226238988

 livercarcinomaSubstitution - Nonsense

c.891A>G; p.P297P; 1:226266306-226266306

 ovaryother; neoplasmSubstitution - coding silent

c.591delT; p.F197fs*8; 1:226277914-226277914

 stomachadenocarcinomaDeletion - Frameshift

c.320C>G; p.T107R; 1:226287790-226287790

 breastcarcinomaSubstitution - Missense

c.1368G>T; p.Q456H; 1:226233449-226233449

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1101A>C; p.K367N; 1:226250905-226250905

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.422A>T; p.E141V; 1:226287688-226287688

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.946C>T; p.R316W; 1:226266251-226266251

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.420C>T; p.Y140Y; 1:226287690-226287690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.665T>C; p.V222A; 1:226277840-226277840

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.720G>A; p.T240T; 1:226277785-226277785

 prostateadenomaSubstitution - coding silent

c.177A>T; p.K59N; 1:226297749-226297749

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.645A>G; p.Q215Q; 1:226277860-226277860

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.847C>T; p.P283S; 1:226267974-226267974

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.830T>G; p.L277R; 1:226267991-226267991

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.682C>T; p.L228F; 1:226277823-226277823

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.933delT; p.F311fs*2; 1:226266264-226266264

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.415A>G; p.I139V; 1:226287695-226287695

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1503C>T; p.S501S; 1:226233164-226233164

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1612C>T; p.Q538*; 1:226232566-226232566

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1183C>T; p.P395S; 1:226239081-226239081

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1472A>G; p.K491R; 1:226233345-226233345

 skinmalignant_melanomaSubstitution - Missense

c.1474-2A>G; p.?; 1:226233195-226233195

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1474-2A>G; p.?; 1:226233195-226233195

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1011G>A; p.S337S; 1:226265608-226265608

 skinmalignant_melanomaSubstitution - coding silent

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