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

Basic Information

Gene ID

26468

Name

LHX6

Synonymous

LIM homeobox 6;LHX6;LIM homeobox 6

Definition

LIM homeodomain protein 6.1|LIM/homeobox protein Lhx6|LIM/homeobox protein Lhx6.1

Position

9q33.2

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

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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 0.04.

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.992A>G; p.H331R; 9:122213668-122213668

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.257C>T; p.S86F; 9:122226930-122226930

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.211G>A; p.A71T; 9:122226976-122226976

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.783+1G>T; p.?; 9:122214282-122214282

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.672C>A; p.A224A; 9:122217078-122217078

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.567C>T; p.F189F; 9:122217183-122217183

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.550G>T; p.A184S; 9:122217200-122217200

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.746A>C; p.K249T; 9:122214320-122214320

 pancreascarcinomaSubstitution - Missense

c.464G>A; p.R155Q; 9:122217286-122217286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.743C>T; p.A248V; 9:122214323-122214323

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.743C>T; p.A248V; 9:122214323-122214323

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.642C>T; p.Y214Y; 9:122217108-122217108

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.669G>T; p.R223S; 9:122217081-122217081

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.742G>A; p.A248T; 9:122214324-122214324

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.511G>A; p.D171N; 9:122217239-122217239

 skinmalignant_melanomaSubstitution - Missense

c.511G>A; p.D171N; 9:122217239-122217239

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.504C>T; p.Y168Y; 9:122217246-122217246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.531C>A; p.R177R; 9:122217219-122217219

 skinmalignant_melanomaSubstitution - coding silent

c.819delC; p.D274fs*11; 9:122214034-122214034

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.618G>A; p.E206E; 9:122217132-122217132

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.681C>T; p.N227N; 9:122217069-122217069

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.681C>T; p.N227N; 9:122217069-122217069

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.681C>T; p.N227N; 9:122217069-122217069

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.181G>A; p.A61T; 9:122227006-122227006

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.880-1G>A; p.?; 9:122213781-122213781

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.967C>T; p.P323S; 9:122213693-122213693

 skinmalignant_melanomaSubstitution - Missense

c.957G>T; p.P319P; 9:122213703-122213703

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.378C>T; p.C126C; 9:122226459-122226459

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.225G>A; p.T75T; 9:122226962-122226962

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.976C>A; p.L326M; 9:122213684-122213684

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.812A>T; p.N271I; 9:122214041-122214041

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.812A>T; p.N271I; 9:122214041-122214041

 large_intestine; coloncarcinomaSubstitution - Missense

c.812A>T; p.N271I; 9:122214041-122214041

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.156G>A; p.M52I; 9:122227409-122227409

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.156G>A; p.M52I; 9:122227409-122227409

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.399G>A; p.L133L; 9:122226438-122226438

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.537C>T; p.N179N; 9:122217213-122217213

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.121A>C; p.T41P; 9:122227444-122227444

 ovaryother; neoplasmSubstitution - Missense

c.651G>A; p.M217I; 9:122217099-122217099

 skinmalignant_melanomaSubstitution - Missense

c.1096C>A; p.L366M; 9:122204739-122204739

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.372C>G; p.L124L; 9:122226465-122226465

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.372C>G; p.L124L; 9:122226465-122226465

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.520C>T; p.R174W; 9:122217230-122217230

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.682_682+1GG>AA; p.?; 9:122217067-122217068

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.524G>A; p.R175K; 9:122217226-122217226

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.509G>A; p.S170N; 9:122217241-122217241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.204G>A; p.E68E; 9:122226983-122226983

 breastcarcinomaSubstitution - coding silent

c.380C>T; p.S127F; 9:122226457-122226457

 skinmalignant_melanomaSubstitution - Missense

c.435G>T; p.E145D; 9:122226402-122226402

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.484C>T; p.R162W; 9:122217266-122217266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.241G>T; p.V81F; 9:122226946-122226946

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.767C>A; p.T256N; 9:122214299-122214299

 pancreascarcinomaSubstitution - Missense

c.732A>G; p.Q244Q; 9:122214334-122214334

 large_intestine; colonNSSubstitution - coding silent

c.876C>A; p.I292I; 9:122213977-122213977

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.234G>A; p.T78T; 9:122226953-122226953

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.789G>A; p.M263I; 9:122214064-122214064

 breastcarcinomaSubstitution - Missense

c.539C>T; p.A180V; 9:122217211-122217211

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.1022C>T; p.A341V; 9:122213638-122213638

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1022C>T; p.A341V; 9:122213638-122213638

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.558C>T; p.F186F; 9:122217192-122217192

 skinmalignant_melanomaSubstitution - coding silent

c.643G>A; p.D215N; 9:122217107-122217107

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.816delC; p.D274fs*11; 9:122214037-122214037

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1108G>A; p.A370T; 9:122204727-122204727

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.489C>T; p.C163C; 9:122217261-122217261

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.293T>A; p.I98N; 9:122226894-122226894

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.844G>T; p.A282S; 9:122214009-122214009

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1120C>T; p.P374S; 9:122204715-122204715

 livercarcinomaSubstitution - Missense

c.1120C>T; p.P374S; 9:122204715-122204715

 livercarcinomaSubstitution - Missense

c.1015G>A; p.E339K; 9:122213645-122213645

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.676G>T; p.E226*; 9:122217074-122217074

 thyroidother; neoplasmSubstitution - Nonsense

c.717G>A; p.S239S; 9:122214349-122214349

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1076C>T; p.T359M; 9:122204759-122204759

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1076C>T; p.T359M; 9:122204759-122204759

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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