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

Basic Information

Gene ID

3651

Name

PDX1

Synonymous

pancreatic and duodenal homeobox 1;PDX1;pancreatic and duodenal homeobox 1

Definition

IPF-1|IUF-1|glucose-sensitive factor|insulin promoter factor 1, homeodomain transcription factor|insulin upstream factor 1|islet/duodenum homeobox-1|pancreas/duodenum homeobox protein 1|pancreatic-duodenal homeobox factor 1|somatostatin transcription fact

Position

13q12.1

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.549G>A; p.L183L; 13:27924398-27924398

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.353C>T; p.P118L; 13:27920491-27920491

 skinmalignant_melanomaSubstitution - Missense

c.330G>A; p.E110E; 13:27920468-27920468

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.186C>T; p.P62P; 13:27920324-27920324

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.632G>A; p.G211D; 13:27924481-27924481

 breastcarcinomaSubstitution - Missense

c.725C>T; p.P242L; 13:27924574-27924574

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.463C>T; p.R155C; 13:27924312-27924312

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.385G>A; p.A129T; 13:27920523-27920523

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.612G>A; p.E204E; 13:27924461-27924461

 skinmalignant_melanomaSubstitution - coding silent

c.526C>A; p.R176R; 13:27924375-27924375

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.158C>A; p.A53D; 13:27920296-27920296

 bone; scapulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.681C>T; p.C227C; 13:27924530-27924530

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.717G>A; p.P239P; 13:27924566-27924566

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.331G>A; p.E111K; 13:27920469-27920469

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.402G>A; p.W134*; 13:27920540-27920540

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.489_490GG>AA; p.E164K; 13:27924338-27924339

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.453G>A; p.T151T; 13:27924302-27924302

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.626G>A; p.R209H; 13:27924475-27924475

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.630C>T; p.G210G; 13:27924479-27924479

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.630C>T; p.G210G; 13:27924479-27924479

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.16C>A; p.Q6K; 13:27920154-27920154

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.401G>A; p.W134*; 13:27920539-27920539

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.631G>A; p.G211S; 13:27924480-27924480

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.684C>T; p.A228A; 13:27924533-27924533

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.711G>A; p.A237A; 13:27924560-27924560

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.660C>T; p.V220V; 13:27924509-27924509

 skinmalignant_melanomaSubstitution - coding silent

c.335C>A; p.P112H; 13:27920473-27920473

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.654C>T; p.G218G; 13:27924503-27924503

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.205G>T; p.E69*; 13:27920343-27920343

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.668C>A; p.P223H; 13:27924517-27924517

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.701A>C; p.E234A; 13:27924550-27924550

 skinmalignant_melanomaSubstitution - Missense

c.692C>T; p.S231F; 13:27924541-27924541

 skinmalignant_melanomaSubstitution - Missense

c.429G>T; p.P143P; 13:27924278-27924278

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

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