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

Basic Information

Gene ID

85480

Name

TSLP

Synonymous

thymic stromal lymphopoietin;TSLP;thymic stromal lymphopoietin

Definition

-

Position

5q22.1

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 0.19.

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.45G>A; p.R15R; 5:111071935-111071935

 skinmalignant_melanomaSubstitution - coding silent

c.61C>A; p.Q21K; 5:111071951-111071951

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.375G>A; p.K125K; 5:111075969-111075969

 breastcarcinomaSubstitution - coding silent

c.21A>G; p.L7L; 5:111071911-111071911

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.238C>T; p.Q80*; 5:111073532-111073532

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.153G>C; p.L51L; 5:111072043-111072043

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.8C>G; p.P3R; 5:111071898-111071898

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.445C>T; p.R149C; 5:111076039-111076039

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.445C>T; p.R149C; 5:111076039-111076039

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.42C>T; p.F14F; 5:111071932-111071932

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.445C>T; p.R149C; 5:111076039-111076039

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.99C>T; p.N33N; 5:111071989-111071989

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.352-1G>A; p.?; 5:111075945-111075945

 skinmalignant_melanomaUnknown

c.412C>A; p.L138M; 5:111076006-111076006

 breastcarcinomaSubstitution - Missense

c.480A>G; p.*160*; 5:111076074-111076074

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.341C>T; p.S114L; 5:111073635-111073635

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.384delA; p.R130fs*27; 5:111075978-111075978

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.143C>T; p.S48F; 5:111072033-111072033

 skinmalignant_melanomaSubstitution - Missense

c.151C>A; p.L51M; 5:111072041-111072041

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6C>T; p.F2F; 5:111071896-111071896

 skinmalignant_melanomaSubstitution - coding silent

c.350A>G; p.Q117R; 5:111073644-111073644

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.270C>T; p.C90C; 5:111073564-111073564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.380G>A; p.R127K; 5:111075974-111075974

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.93C>T; p.F31F; 5:111071983-111071983

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.121G>T; p.A41S; 5:111072011-111072011

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.100T>A; p.C34S; 5:111071990-111071990

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.43A>T; p.R15W; 5:111071933-111071933

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.33A>T; p.S11S; 5:111071923-111071923

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.88G>A; p.D30N; 5:111071978-111071978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.286G>T; p.E96*; 5:111073580-111073580

 large_intestine; colonNSSubstitution - Nonsense

c.264C>T; p.A88A; 5:111073558-111073558

 prostatecarcinomaSubstitution - coding silent

c.459A>T; p.R153R; 5:111076053-111076053

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.333A>G; p.P111P; 5:111073627-111073627

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.280G>A; p.A94T; 5:111073574-111073574

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.111G>C; p.E37D; 5:111072001-111072001

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.87C>A; p.Y29*; 5:111071977-111071977

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

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