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

Basic Information

Gene ID

10637

Name

LEFTY1

Synonymous

left-right determination factor 1;LEFTY1;left-right determination factor 1

Definition

left-right determination factor B|left-right determination, factor B|protein lefty-1|protein lefty-B

Position

1q42.1

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

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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 0.11.

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.258C>A; p.A86A; 1:225888025-225888025

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.530C>A; p.A177D; 1:225887606-225887606

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.221G>A; p.R74H; 1:225888846-225888846

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.209G>A; p.G70E; 1:225888858-225888858

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.577C>T; p.P193S; 1:225887559-225887559

 skinmalignant_melanomaSubstitution - Missense

c.375C>T; p.V125V; 1:225887908-225887908

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.375C>T; p.V125V; 1:225887908-225887908

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.375C>T; p.V125V; 1:225887908-225887908

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.375C>T; p.V125V; 1:225887908-225887908

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.375C>T; p.V125V; 1:225887908-225887908

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.375C>T; p.V125V; 1:225887908-225887908

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.375C>T; p.V125V; 1:225887908-225887908

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.375C>T; p.V125V; 1:225887908-225887908

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.777G>A; p.E259E; 1:225887051-225887051

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.223_224GG>AA; p.G75K; 1:225888843-225888844

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.212A>G; p.D71G; 1:225888855-225888855

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.132C>G; p.D44E; 1:225888935-225888935

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.965A>C; p.D322A; 1:225886863-225886863

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.965A>C; p.D322A; 1:225886863-225886863

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.965A>C; p.D322A; 1:225886863-225886863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.965A>C; p.D322A; 1:225886863-225886863

 thyroidother; neoplasmSubstitution - Missense

c.965A>C; p.D322A; 1:225886863-225886863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.968C>T; p.S323L; 1:225886860-225886860

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.223G>A; p.G75R; 1:225888844-225888844

 skinmalignant_melanomaSubstitution - Missense

c.221G>T; p.R74L; 1:225888846-225888846

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.707A>T; p.E236V; 1:225887429-225887429

 skinmalignant_melanomaSubstitution - Missense

c.952G>A; p.A318T; 1:225886876-225886876

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.858G>A; p.P286P; 1:225886970-225886970

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1024A>T; p.S342C; 1:225886804-225886804

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.178C>A; p.Q60K; 1:225888889-225888889

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.154G>T; p.V52F; 1:225888913-225888913

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.124A>C; p.T42P; 1:225888943-225888943

 skinmalignant_melanomaSubstitution - Missense

c.881_882delTG; p.V294fs*28; 1:225886946-225886947

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.1045C>T; p.Q349*; 1:225886783-225886783

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1023C>A; p.V341V; 1:225886805-225886805

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.790T>C; p.C264R; 1:225887038-225887038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.169G>A; p.V57M; 1:225888898-225888898

 thyroidother; neoplasmSubstitution - Missense

c.169G>A; p.V57M; 1:225888898-225888898

 thyroidother; neoplasmSubstitution - Missense

c.982G>A; p.V328I; 1:225886846-225886846

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1026C>T; p.S342S; 1:225886802-225886802

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.767C>T; p.P256L; 1:225887061-225887061

 skinmalignant_melanomaSubstitution - Missense

c.767C>T; p.P256L; 1:225887061-225887061

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.842G>C; p.W281S; 1:225886986-225886986

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.538G>A; p.V180M; 1:225887598-225887598

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.516G>C; p.E172D; 1:225887620-225887620

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.588G>T; p.P196P; 1:225887548-225887548

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.951C>T; p.I317I; 1:225886877-225886877

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.950T>A; p.I317N; 1:225886878-225886878

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.856C>T; p.P286S; 1:225886972-225886972

 skinmalignant_melanomaSubstitution - Missense

c.678G>A; p.A226A; 1:225887458-225887458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.685G>A; p.G229R; 1:225887451-225887451

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1077C>T; p.L359L; 1:225886751-225886751

 thyroidother; neoplasmSubstitution - coding silent

c.853C>T; p.P285S; 1:225886975-225886975

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.120G>A; p.V40V; 1:225888947-225888947

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.521G>T; p.G174V; 1:225887615-225887615

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.941G>C; p.R314P; 1:225886887-225886887

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.275T>C; p.L92S; 1:225888008-225888008

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.946T>G; p.C316G; 1:225886882-225886882

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.246C>A; p.F82L; 1:225888821-225888821

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.658C>T; p.R220C; 1:225887478-225887478

 skinmalignant_melanomaSubstitution - Missense

c.634G>A; p.A212T; 1:225887502-225887502

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.634G>A; p.A212T; 1:225887502-225887502

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.634G>A; p.A212T; 1:225887502-225887502

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.634G>A; p.A212T; 1:225887502-225887502

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.151C>T; p.L51L; 1:225888916-225888916

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.944A>G; p.Q315R; 1:225886884-225886884

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.949A>G; p.I317V; 1:225886879-225886879

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.926C>T; p.P309L; 1:225886902-225886902

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.652C>G; p.L218V; 1:225887484-225887484

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.945G>T; p.Q315H; 1:225886883-225886883

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.857C>T; p.P286L; 1:225886971-225886971

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.943C>T; p.Q315*; 1:225886885-225886885

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.234C>T; p.F78F; 1:225888833-225888833

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.98G>A; p.R33Q; 1:225888969-225888969

 breastcarcinomaSubstitution - Missense

c.522C>T; p.G174G; 1:225887614-225887614

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.893G>A; p.R298Q; 1:225886935-225886935

 thyroidother; neoplasmSubstitution - Missense

c.384C>A; p.A128A; 1:225887899-225887899

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.267C>T; p.F89F; 1:225888016-225888016

 skinmalignant_melanomaSubstitution - coding silent

c.267C>T; p.F89F; 1:225888016-225888016

 skinmalignant_melanomaSubstitution - coding silent

c.948C>A; p.C316*; 1:225886880-225886880

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.160C>T; p.P54S; 1:225888907-225888907

 skinmalignant_melanomaSubstitution - Missense

c.1027C>T; p.L343L; 1:225886801-225886801

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1023C>T; p.V341V; 1:225886805-225886805

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

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