Transcript: ENST00000353632.6 NPHS1-002

Description

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

Gene Synonyms

CNF, NPHN, nephrin

Location

About this transcript

This transcript has 28 exons, is annotated with 62 domains and features, is associated with 13931 variant alleles and maps to 629 oligo probes.

Gene

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, 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

Statistics

Exons: 28, Coding exons: 28, Transcript length: 3,741 bps, Translation length: 1,201 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O60500

Version

ENST00000353632.6

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000452554 (version 2)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.