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

Basic Information

Gene ID

1045

Name

CDX2

Synonymous

caudal type homeobox 2;CDX2;caudal type homeobox 2

Definition

caudal type homeo box transcription factor 2|caudal type homeobox transcription factor 2|caudal-type homeobox protein 2|homeobox protein CDX-2

Position

13q12.3

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 0.16.

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.106C>T; p.Q36*; 13:27968901-27968901

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.641G>A; p.R214Q; 13:27964916-27964916

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.600G>A; p.E200E; 13:27964957-27964957

 skinmalignant_melanomaSubstitution - coding silent

c.542-2A>G; p.?; 13:27965017-27965017

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.483G>A; p.Q161Q; 13:27968524-27968524

 skinmalignant_melanomaSubstitution - coding silent

c.757C>G; p.Q253E; 13:27963300-27963300

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.437G>T; p.G146V; 13:27968570-27968570

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.439C>A; p.P147T; 13:27968568-27968568

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.181C>T; p.P61S; 13:27968826-27968826

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.882C>A; p.G294G; 13:27963175-27963175

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.790C>T; p.P264S; 13:27963267-27963267

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.456C>A; p.A152A; 13:27968551-27968551

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.554C>T; p.T185M; 13:27965003-27965003

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.709C>T; p.R237C; 13:27963348-27963348

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.709C>T; p.R237C; 13:27963348-27963348

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.661G>A; p.A221T; 13:27964896-27964896

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.531C>T; p.L177L; 13:27968476-27968476

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.602T>A; p.L201Q; 13:27964955-27964955

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.862C>G; p.L288V; 13:27963195-27963195

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.804C>T; p.P268P; 13:27963253-27963253

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.52G>T; p.V18L; 13:27968955-27968955

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.821C>A; p.P274H; 13:27963236-27963236

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.626G>A; p.R209H; 13:27964931-27964931

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.871T>G; p.S291A; 13:27963186-27963186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.916delG; p.V306fs*2; 13:27963141-27963141

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.916delG; p.V306fs*2; 13:27963141-27963141

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.916delG; p.V306fs*2; 13:27963141-27963141

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.916delG; p.V306fs*2; 13:27963141-27963141

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.916delG; p.V306fs*2; 13:27963141-27963141

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.916delG; p.V306fs*2; 13:27963141-27963141

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.916delG; p.V306fs*2; 13:27963141-27963141

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.636C>T; p.T212T; 13:27964921-27964921

 skinmalignant_melanomaSubstitution - coding silent

c.716C>T; p.A239V; 13:27963341-27963341

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.111C>T; p.Y37Y; 13:27968896-27968896

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.111C>T; p.Y37Y; 13:27968896-27968896

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.186G>T; p.G62G; 13:27968821-27968821

 livercarcinomaSubstitution - coding silent

c.186G>T; p.G62G; 13:27968821-27968821

 livercarcinomaSubstitution - coding silent

c.426C>A; p.P142P; 13:27968581-27968581

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.311C>T; p.A104V; 13:27968696-27968696

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.93C>T; p.F31F; 13:27968914-27968914

 skinmalignant_melanomaSubstitution - coding silent

c.93C>T; p.F31F; 13:27968914-27968914

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.219C>A; p.L73L; 13:27968788-27968788

 pancreascarcinomaSubstitution - coding silent

c.883T>C; p.S295P; 13:27963174-27963174

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.721G>A; p.E241K; 13:27963336-27963336

 skinmalignant_melanomaSubstitution - Missense

c.478G>T; p.G160C; 13:27968529-27968529

 livercarcinomaSubstitution - Missense

c.788C>T; p.P263L; 13:27963269-27963269

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.248G>T; p.G83V; 13:27968759-27968759

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.644G>A; p.R215K; 13:27964913-27964913

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.877C>T; p.P293S; 13:27963180-27963180

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.780G>A; p.P260P; 13:27963277-27963277

 breastcarcinomaSubstitution - coding silent

c.592C>T; p.R198W; 13:27964965-27964965

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.597_598GG>TT; p.L199>?; 13:27964959-27964960

 lungcarcinoma; adenocarcinomaComplex

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