Entrez Gene

Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)

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

Basic Information
Gene ID	5216
Name	PFN1
Synonymous	profilin 1;PFN1;profilin 1
Definition	epididymis tissue protein Li 184a\|profilin I\|profilin-1
Position	17p13.3
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 0.00.

The copy number variations for various cancers

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There is no record for PFN1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.349G>C; p.E117Q; 17:4945974-4945974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.349G>C; p.E117Q; 17:4945974-4945974	urinary_tract; bladder	carcinoma	Substitution - Missense
c.89_90CC>TT; p.S30F; 17:4948305-4948306	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.39G>T; p.A13A; 17:4948356-4948356	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.328C>A; p.L110I; 17:4945995-4945995	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.163G>T; p.D55Y; 17:4946790-4946790	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.163G>T; p.D55Y; 17:4946790-4946790	urinary_tract; bladder	carcinoma	Substitution - Missense
c.353G>C; p.G118A; 17:4945970-4945970	urinary_tract; bladder	carcinoma	Substitution - Missense
c.353G>C; p.G118A; 17:4945970-4945970	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.334C>T; p.L112L; 17:4945989-4945989	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.313A>G; p.K105E; 17:4946640-4946640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.230C>T; p.S77L; 17:4946723-4946723	NS	NS	Substitution - Missense
c.422G>A; p.141; 17:4945901-4945901	breast	carcinoma	Substitution - coding silent
c.167G>A; p.R56Q; 17:4946786-4946786	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.286G>A; p.A96T; 17:4946667-4946667	urinary_tract; bladder	carcinoma	Substitution - Missense

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