Gene: BFSP2 ENSG00000170819

Description

beaded filament structural protein 2, phakinin [Source:HGNC Symbol;Acc:1041]

Gene Synonyms

CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, phakinin

Location

GRCh37:CM000665.1

About this gene

This gene has 6 transcripts (splice variants), 2 paralogues and is associated with 8 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000302334.2	BFSP2-001	1558	415aa	ENSP00000304987.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33859	Q13515	NM_003571.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000511434.1	BFSP2-004	660	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000510039.1	BFSP2-006	643	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000513441.1	BFSP2-005	521	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000511140.1	BFSP2-002	374	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000503047.1	BFSP2-003	462	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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