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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000353632.6	NPHS1-002	3741	1201aa	ENSP00000343634.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O60500	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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