Human (GRCh38.p14)
Description

nephrocystin 1 [Source:HGNC Symbol;Acc:HGNC:7905]

Gene Synonyms

JBTS4, NPH1, SLSN1

Location

Chromosome 2: 110,122,311-110,205,066 reverse strand.

GRCh38:CM000664.2

About this gene

This gene has 22 transcripts (splice variants), 199 orthologues and is associated with 9 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000445609.7NPHP1-2072522677aaENSP00000389879.3
 
Protein coding
CCDS46386O15259-2 NM_001128178.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:1
ENST00000674677.1NPHP1-2124034609aaENSP00000502265.1
 
Protein coding
A0A6Q8PGI7 -CDS 5' incomplete
ENST00000675067.1NPHP1-2133885410aaENSP00000502817.1
 
Protein coding
A0A6Q8PHS3 -GENCODE basic
ENST00000316534.8NPHP1-2013756733aaENSP00000313169.4
 
Protein coding
CCDS2086O15259-4 -GENCODE basicAPPRIS ALT2TSL:1
ENST00000393272.7NPHP1-2032752732aaENSP00000376953.3
 
Protein coding
CCDS46385O15259-1 -GENCODE basicAPPRIS ALT2TSL:1
ENST00000417665.5NPHP1-2042246711aaENSP00000402176.1
 
Protein coding
C9JNM7 -GENCODE basicAPPRIS ALT2TSL:5
ENST00000676028.1NPHP1-2182225616aaENSP00000502639.1
 
Protein coding
A0A6Q8PHD4 -GENCODE basicAPPRIS ALT2
ENST00000676053.1NPHP1-2192218614aaENSP00000502475.1
 
Protein coding
CCDS46384O15259-3 -GENCODE basic
ENST00000355301.8NPHP1-2021932614aaENSP00000347452.4
 
Protein coding
CCDS46384O15259-3 -GENCODE basicTSL:1
ENST00000676091.1NPHP1-2201313409aaENSP00000502528.1
 
Protein coding
A0A6Q8PH10 -CDS 5' incomplete
ENST00000418527.1NPHP1-205742121aaENSP00000412351.1
 
Protein coding
C9J082 -GENCODE basicTSL:1
ENST00000422492.1NPHP1-20635747aaENSP00000392562.1
 
Protein coding
H7C014 -TSL:3CDS 5' incomplete
ENST00000449600.1NPHP1-20848645aaENSP00000406453.1
 
Nonsense mediated decay
H7C2K4 -TSL:3CDS 5' incomplete
ENST00000496524.5NPHP1-21110006No protein-
 
Retained intron
--TSL:2
ENST00000675294.1NPHP1-2146665No protein-
 
Retained intron
---
ENST00000675752.1NPHP1-2174078No protein-
 
Retained intron
---
ENST00000676165.1NPHP1-2214050No protein-
 
Retained intron
---
ENST00000461707.5NPHP1-2093822No protein-
 
Retained intron
--TSL:2
ENST00000675632.1NPHP1-2163791No protein-
 
Retained intron
---
ENST00000676258.1NPHP1-2223171No protein-
 
Retained intron
---
ENST00000675356.1NPHP1-2153065No protein-
 
Retained intron
---
ENST00000493051.1NPHP1-210577No protein-
 
Retained intron
--TSL:3