Gene: NPHS1 ENSG00000161270

Description

nephrosis 1, congenital, Finnish type (nephrin) [Source:HGNC Symbol;Acc:7908]

Gene Synonyms

CNF, NPHN, nephrin

Location

GRCh37:CM000681.1

About this gene

This gene has 5 transcripts (splice variants), 3 paralogues and is associated with 5 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000378910.5	NPHS1-001	4276	1241aa	ENSP00000368190.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32996	O60500	NM_004646.3	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000353632.6	NPHS1-002	3741	1201aa	ENSP00000343634.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O60500	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000591817.1	NPHS1-005	581	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000585400.1	NPHS1-003	999	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000592132.1	NPHS1-004	561	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary