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

Basic Information

Gene ID

137075

Name

CLDN23

Synonymous

claudin 23;CLDN23;claudin 23

Definition

2310014B08Rik|claudin-23

Position

8p23.1

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 0.00.

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.395T>G; p.V132G; 8:8702793-8702793

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.355G>A; p.V119I; 8:8702753-8702753

 ovaryother; neoplasmSubstitution - Missense

c.216C>T; p.F72F; 8:8702614-8702614

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.403T>C; p.Y135H; 8:8702801-8702801

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.516G>T; p.L172L; 8:8702914-8702914

 breastcarcinomaSubstitution - coding silent

c.438C>T; p.P146P; 8:8702836-8702836

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.508C>T; p.L170L; 8:8702906-8702906

 skinmalignant_melanomaSubstitution - coding silent

c.622A>G; p.I208V; 8:8703020-8703020

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.622A>G; p.I208V; 8:8703020-8703020

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.370G>T; p.A124S; 8:8702768-8702768

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.200A>G; p.D67G; 8:8702598-8702598

 livercarcinomaSubstitution - Missense

c.200A>G; p.D67G; 8:8702598-8702598

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.28G>T; p.G10C; 8:8702426-8702426

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.556G>A; p.D186N; 8:8702954-8702954

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.414C>T; p.F138F; 8:8702812-8702812

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.601C>T; p.R201C; 8:8702999-8702999

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.129G>T; p.V43V; 8:8702527-8702527

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.243G>A; p.R81R; 8:8702641-8702641

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.315G>T; p.W105C; 8:8702713-8702713

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.277C>T; p.L93L; 8:8702675-8702675

 skinmalignant_melanomaSubstitution - coding silent

c.315G>T; p.W105C; 8:8702713-8702713

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.534G>C; p.A178A; 8:8702932-8702932

 livercarcinomaSubstitution - coding silent

c.534G>C; p.A178A; 8:8702932-8702932

 livercarcinomaSubstitution - coding silent

c.93G>A; p.R31R; 8:8702491-8702491

 skinmalignant_melanomaSubstitution - coding silent

c.273G>A; p.T91T; 8:8702671-8702671

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.545C>T; p.A182V; 8:8702943-8702943

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.575G>A; p.R192H; 8:8702973-8702973

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.803G>T; p.G268V; 8:8703201-8703201

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.304G>A; p.V102M; 8:8702702-8702702

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.779C>T; p.S260L; 8:8703177-8703177

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.694C>T; p.P232S; 8:8703092-8703092

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.694C>T; p.P232S; 8:8703092-8703092

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.694C>T; p.P232S; 8:8703092-8703092

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.183C>T; p.R61R; 8:8702581-8702581

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

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