Human (GRCh37.p13)
Description

nephronophthisis 1 (juvenile) [Source:HGNC Symbol;Acc:7905]

Gene Synonyms

JBTS4, NPH1, SLSN1

About this transcript

This transcript has 20 exons, is annotated with 14 domains and features, is associated with 20112 variant alleles and maps to 496 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000316534.4NPHP1-0023756733aaENSP00000313169.4
 
Protein coding
CCDS2086O15259 -GENCODE basic
ENST00000393272.3NPHP1-0012752732aaENSP00000376953.3
 
Protein coding
CCDS46385O15259 NM_207181.2GENCODE basic
ENST00000445609.2NPHP1-0112513677aaENSP00000389879.2
 
Protein coding
CCDS46386B4DQY0 O15259 NM_001128178.1GENCODE basic
ENST00000417665.1NPHP1-0072246711aaENSP00000402176.1
 
Protein coding
C9JNM7 -GENCODE basic
ENST00000355301.4NPHP1-0041932614aaENSP00000347452.4
 
Protein coding
CCDS46384O15259 NM_001128179.1GENCODE basic
ENST00000418527.1NPHP1-003742121aaENSP00000412351.1
 
Protein coding
C9J082 -GENCODE basic
ENST00000422492.1NPHP1-01035747aaENSP00000392562.1
 
Protein coding
--CDS 5' incomplete
ENST00000449600.1NPHP1-00848645aaENSP00000406453.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000496524.1NPHP1-00510006No protein-
 
Retained intron
---
ENST00000461707.1NPHP1-0063822No protein-
 
Retained intron
---
ENST00000493051.1NPHP1-009577No protein-
 
Retained intron
---
Statistics

Exons: 20, Coding exons: 20, Transcript length: 2,513 bps, Translation length: 677 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS46386

Uniprot

This transcript corresponds to the following Uniprot identifiers: O15259

Version

ENST00000445609.2

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:
OTTHUMT00000376064 (version 1)
GENCODE basic gene

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