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

Basic Information

Gene ID

6876

Name

TAGLN

Synonymous

transgelin;TAGLN;transgelin

Definition

22 kDa actin-binding protein|SM22-alpha|smooth muscle protein 22-alpha|transgelin variant 2

Position

11q23.2

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 0.00.

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.104T>C; p.I35T; 11:117203117-117203117

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.277C>T; p.Q93*; 11:117203403-117203403

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.446C>T; p.P149L; 11:117203869-117203869

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.467C>T; p.A156V; 11:117204220-117204220

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.70G>A; p.E24K; 11:117203083-117203083

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.70G>A; p.E24K; 11:117203083-117203083

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.252C>T; p.P84P; 11:117203378-117203378

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5C>T; p.A2V; 11:117203018-117203018

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.474G>A; p.E158E; 11:117204227-117204227

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.497G>A; p.S166N; 11:117204250-117204250

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.459G>A; p.M153I; 11:117203882-117203882

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.436C>T; p.R146C; 11:117203859-117203859

 large_intestine; colonadenomaSubstitution - Missense

c.54C>T; p.I18I; 11:117203067-117203067

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.54C>T; p.I18I; 11:117203067-117203067

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.54C>T; p.I18I; 11:117203067-117203067

 pancreascarcinomaSubstitution - coding silent

c.7delA; p.N3fs*8; 11:117203020-117203020

 prostatecarcinoma; adenocarcinomaDeletion - Frameshift

c.267G>A; p.K89K; 11:117203393-117203393

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.267G>A; p.K89K; 11:117203393-117203393

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.16C>T; p.P6S; 11:117203029-117203029

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.48_49insA; p.I18fs*6; 11:117203061-117203062

 skinmalignant_melanomaInsertion - Frameshift

c.203G>T; p.S68I; 11:117203329-117203329

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.69C>T; p.D23D; 11:117203082-117203082

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.111G>A; p.Q37Q; 11:117203124-117203124

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.78G>A; p.L26L; 11:117203091-117203091

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.580G>A; p.G194R; 11:117204333-117204333

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.596T>C; p.I199T; 11:117204349-117204349

 breastcarcinomaSubstitution - Missense

c.37G>A; p.E13K; 11:117203050-117203050

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.227C>T; p.P76L; 11:117203353-117203353

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.322A>G; p.K108E; 11:117203448-117203448

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.92T>G; p.V31G; 11:117203105-117203105

 thyroidother; neoplasmSubstitution - Missense

c.92T>G; p.V31G; 11:117203105-117203105

 thyroidother; neoplasmSubstitution - Missense

c.92T>G; p.V31G; 11:117203105-117203105

 thyroidother; neoplasmSubstitution - Missense

c.92T>G; p.V31G; 11:117203105-117203105

 thyroidother; neoplasmSubstitution - Missense

c.564C>A; p.A188A; 11:117204317-117204317

 breastcarcinomaSubstitution - coding silent

c.312T>C; p.Y104Y; 11:117203438-117203438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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