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

Basic Information

Gene ID

7044

Name

LEFTY2

Synonymous

left-right determination factor 2;LEFTY2;left-right determination factor 2

Definition

TGF-beta-4|endometrial bleeding-associated factor|left-right determination factor A|protein lefty-2|protein lefty-A|transforming growth factor beta-4

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

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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 0.13.

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.858G>A; p.P286P; 1:225937684-225937684

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.738-9C>A; p.?; 1:225937813-225937813

 ovaryother; neoplasmUnknown

c.738-9C>A; p.?; 1:225937813-225937813

 ovaryother; neoplasmUnknown

c.151C>T; p.L51L; 1:225940990-225940990

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.965C>A; p.A322D; 1:225937577-225937577

 central_nervous_system; braingliomaSubstitution - Missense

c.161C>T; p.P54L; 1:225940980-225940980

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.677C>T; p.A226V; 1:225939421-225939421

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.677C>T; p.A226V; 1:225939421-225939421

 livercarcinomaSubstitution - Missense

c.677C>T; p.A226V; 1:225939421-225939421

 livercarcinomaSubstitution - Missense

c.1064C>T; p.S355L; 1:225937478-225937478

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1064C>T; p.S355L; 1:225937478-225937478

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1064C>T; p.S355L; 1:225937478-225937478

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.565_566insAA; p.L190fs*2; 1:225939532-225939533

 livercarcinoma; hepatocellular_carcinomaInsertion - Frameshift

c.459C>T; p.R153R; 1:225939794-225939794

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.568C>T; p.L190L; 1:225939530-225939530

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.902C>T; p.P301L; 1:225937640-225937640

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1074G>T; p.A358A; 1:225937468-225937468

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1083A>G; p.P361P; 1:225937459-225937459

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.135G>T; p.R45S; 1:225941006-225941006

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.208G>T; p.G70W; 1:225940933-225940933

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.94C>T; p.L32L; 1:225941047-225941047

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.799G>T; p.E267*; 1:225937743-225937743

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.203G>A; p.S68N; 1:225940938-225940938

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.785G>A; p.R262H; 1:225937757-225937757

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.859G>T; p.G287C; 1:225937683-225937683

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.355C>T; p.R119W; 1:225939898-225939898

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.978G>T; p.M326I; 1:225937564-225937564

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.685G>A; p.G229R; 1:225939413-225939413

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.196C>T; p.R66W; 1:225940945-225940945

 breastcarcinomaSubstitution - Missense

c.790T>C; p.C264R; 1:225937752-225937752

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.550G>A; p.V184M; 1:225939548-225939548

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.215G>A; p.R72H; 1:225940926-225940926

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.367G>A; p.E123K; 1:225939886-225939886

 skinmalignant_melanomaSubstitution - Missense

c.893A>G; p.Q298R; 1:225937649-225937649

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.251-1G>A; p.?; 1:225940003-225940003

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaUnknown

c.251-1G>A; p.?; 1:225940003-225940003

 urinary_tract; bladdercarcinomaUnknown

c.957G>A; p.S319S; 1:225937585-225937585

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.32G>T; p.W11L; 1:225941109-225941109

 skin; trunkmalignant_melanomaSubstitution - Missense

c.497+1G>A; p.?; 1:225939755-225939755

 skinmalignant_melanomaUnknown

c.51C>G; p.G17G; 1:225941090-225941090

 prostatecarcinomaSubstitution - coding silent

c.624G>A; p.L208L; 1:225939474-225939474

 large_intestine; colonNSSubstitution - coding silent

c.246C>A; p.F82L; 1:225940895-225940895

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.843G>C; p.W281C; 1:225937699-225937699

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.372G>A; p.P124P; 1:225939881-225939881

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.483C>T; p.S161S; 1:225939770-225939770

 skinmalignant_melanomaSubstitution - coding silent

c.837G>T; p.K279N; 1:225937705-225937705

 stomachadenocarcinomaSubstitution - Missense

c.564_565insTT; p.Q189fs*3; 1:225939533-225939534

 livercarcinoma; hepatocellular_carcinomaInsertion - Frameshift

c.886A>C; p.T296P; 1:225937656-225937656

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.886A>C; p.T296P; 1:225937656-225937656

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.240G>A; p.Q80Q; 1:225940901-225940901

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.498-2A>G; p.?; 1:225939602-225939602

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1091T>C; p.L364P; 1:225937451-225937451

 breastcarcinomaSubstitution - Missense

c.557T>A; p.F186Y; 1:225939541-225939541

 prostatecarcinomaSubstitution - Missense

c.1073C>T; p.A358V; 1:225937469-225937469

 pancreascarcinoma; adenocarcinomaSubstitution - Missense

c.1065G>A; p.S355S; 1:225937477-225937477

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

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