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

Basic Information

Gene ID

29108

Name

PYCARD

Synonymous

PYD and CARD domain containing;PYCARD;PYD and CARD domain containing

Definition

apoptosis-associated speck-like protein containing a CARD|caspase recruitment domain-containing protein 5|target of methylation-induced silencing 1

Position

16p11.2

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 0.29.

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.411C>A; p.Y137*; 16:31201762-31201762

 pancreascarcinomaSubstitution - Nonsense

c.237G>T; p.Q79H; 16:31202454-31202454

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.100G>A; p.E34K; 16:31202591-31202591

 NSNSSubstitution - Missense

c.352C>A; p.H118N; 16:31201821-31201821

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.285C>T; p.A95A; 16:31202193-31202193

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.55G>T; p.E19*; 16:31202636-31202636

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.45G>A; p.L15L; 16:31202646-31202646

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.318G>A; p.S106S; 16:31202160-31202160

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.433C>T; p.Q145*; 16:31201740-31201740

 breastcarcinomaSubstitution - Nonsense

c.349C>A; p.Q117K; 16:31201824-31201824

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.478C>T; p.R160W; 16:31201695-31201695

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.438C>T; p.Y146Y; 16:31201735-31201735

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.535C>T; p.Q179*; 16:31201638-31201638

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.484C>T; p.L162F; 16:31201689-31201689

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.585C>A; p.S195R; 16:31201588-31201588

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.304G>A; p.A102T; 16:31202174-31202174

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.276C>A; p.G92G; 16:31202202-31202202

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.474G>C; p.K158N; 16:31201699-31201699

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.513G>C; p.W171C; 16:31201660-31201660

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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