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

Basic Information

Gene ID

27075

Name

TSPAN13

Synonymous

tetraspanin 13;TSPAN13;tetraspanin 13

Definition

tetraspan NET-6|tetraspanin-13|transmembrane 4 superfamily member 13|transmembrane 4 superfamily member tetraspan NET-6|tspan-13

Position

7p21.1

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

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 0.14.

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.378A>C; p.L126L; 7:16777863-16777863

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.228T>C; p.F76F; 7:16776375-16776375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.523T>C; p.F175L; 7:16779099-16779099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.594G>A; p.A198A; 7:16783470-16783470

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.594G>A; p.A198A; 7:16783470-16783470

 kidneyother; neoplasmSubstitution - coding silent

c.369G>A; p.Q123Q; 7:16777854-16777854

 pancreascarcinomaSubstitution - coding silent

c.598C>T; p.P200S; 7:16783474-16783474

 skin; trunkmalignant_melanomaSubstitution - Missense

c.145G>T; p.V49F; 7:16776292-16776292

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.539A>G; p.E180G; 7:16779115-16779115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.539A>G; p.E180G; 7:16779115-16779115

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.64-1G>T; p.?; 7:16776210-16776210

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.231delT; p.Y78fs*2; 7:16776378-16776378

 autonomic_ganglianeuroblastomaDeletion - Frameshift

c.53T>G; p.L18R; 7:16754020-16754020

 pancreascarcinomaSubstitution - Missense

c.282C>T; p.C94C; 7:16777092-16777092

 breastcarcinomaSubstitution - coding silent

c.394C>T; p.R132*; 7:16777879-16777879

 prostatecarcinomaSubstitution - Nonsense

c.407C>T; p.P136L; 7:16777892-16777892

 skinmalignant_melanomaSubstitution - Missense

c.376C>G; p.L126V; 7:16777861-16777861

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.573G>A; p.R191R; 7:16783449-16783449

 skinmalignant_melanomaSubstitution - coding silent

c.413A>T; p.D138V; 7:16777898-16777898

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.413A>T; p.D138V; 7:16777898-16777898

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.393C>T; p.F131F; 7:16777878-16777878

 skinmalignant_melanomaSubstitution - coding silent

c.488G>A; p.G163E; 7:16779064-16779064

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.297G>T; p.L99L; 7:16777107-16777107

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.297G>T; p.L99L; 7:16777107-16777107

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.543C>T; p.I181I; 7:16783419-16783419

 skinmalignant_melanomaSubstitution - coding silent

c.141C>T; p.G47G; 7:16776288-16776288

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.428G>A; p.S143N; 7:16779004-16779004

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.493G>A; p.V165I; 7:16779069-16779069

 skinmalignant_melanomaSubstitution - Missense

c.355C>T; p.R119*; 7:16777840-16777840

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.283G>A; p.A95T; 7:16777093-16777093

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.226delT; p.Y78fs*2; 7:16776373-16776373

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.43G>A; p.A15T; 7:16754010-16754010

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.565A>T; p.R189*; 7:16783441-16783441

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

')