Human (GRCh38.p14)
Description

nephrocystin 3 [Source:HGNC Symbol;Acc:HGNC:7907]

Gene Synonyms

CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, NPH3, SLSN3

Location

Chromosome 3: 132,680,609-132,722,432 reverse strand.

GRCh38:CM000665.2

About this gene

This gene has 14 transcripts (splice variants), 190 orthologues, 5 paralogues and is associated with 10 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000337331.10NPHP3-20153481330aaENSP00000338766.5
 
Protein coding
CCDS3078Q7Z494-1 NM_153240.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000683570.1NPHP3-2121693181aaENSP00000508409.1
 
Protein coding
Q7Z494-4 -GENCODE basic
ENST00000383282.3NPHP3-202782150aaENSP00000372769.2
 
Protein coding
Q7Z494-7 -GENCODE basicTSL:1
ENST00000512094.5NPHP3-21072187aaENSP00000427666.1
 
Protein coding
H0YAM4 -TSL:5CDS 5' incomplete
ENST00000684294.1NPHP3-2133872538aaENSP00000508078.1
 
Nonsense mediated decay
F2Z3A8 --
ENST00000465756.5NPHP3-2033852538aaENSP00000419907.1
 
Nonsense mediated decay
F2Z3A8 -TSL:5
ENST00000469232.5NPHP3-2041616123aaENSP00000418664.1
 
Nonsense mediated decay
A0A0C4DG93 -TSL:2CDS 5' incomplete
ENST00000471145.1NPHP3-205435No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000490993.5NPHP3-2085197No protein-
 
Retained intron
--TSL:5
ENST00000474871.5NPHP3-2064493No protein-
 
Retained intron
--TSL:2
ENST00000493732.5NPHP3-2091933No protein-
 
Retained intron
--TSL:2
ENST00000684756.1NPHP3-2141440No protein-
 
Retained intron
---
ENST00000476742.1NPHP3-207650No protein-
 
Retained intron
--TSL:3
ENST00000515289.2NPHP3-211556No protein-
 
Retained intron
--TSL:3