Entrez Gene

Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)

General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information
Gene ID	83719
Name	YPEL3
Synonymous	yippee-like 3 (Drosophila);YPEL3;yippee-like 3 (Drosophila)
Definition	protein yippee-like 3
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 0.25.

The copy number variations for various cancers

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There is no record for YPEL3

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.282C>T; p.N94N; 16:30094891-30094891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.385G>A; p.E129K; 16:30092799-30092799	skin	malignant_melanoma	Substitution - Missense
c.54G>A; p.L18L; 16:30095429-30095429	liver	carcinoma	Substitution - coding silent
c.170G>A; p.R57Q; 16:30095313-30095313	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.291C>T; p.C97C; 16:30094882-30094882	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.459C>A; p.D153E; 16:30092725-30092725	pancreas	carcinoma	Substitution - Missense
c.291C>T; p.C97C; 16:30094882-30094882	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.304G>A; p.E102K; 16:30094869-30094869	skin	malignant_melanoma	Substitution - Missense
c.104delC; p.P35fs*59; 16:30095379-30095379	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.45G>A; p.R15R; 16:30095438-30095438	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.307C>T; p.R103W; 16:30094866-30094866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.112G>A; p.A38T; 16:30095371-30095371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.399G>A; p.E133E; 16:30092785-30092785	pancreas	carcinoma	Substitution - coding silent
c.239A>G; p.Q80R; 16:30095139-30095139	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.217G>T; p.D73Y; 16:30095266-30095266	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.152A>G; p.Y51C; 16:30095331-30095331	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.82_83insT; p.P28fs*27; 16:30095400-30095401	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.282C>A; p.N94K; 16:30094891-30094891	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense

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