Description
nephronophthisis 1 (juvenile) [Source:HGNC Symbol;Acc:7905]
Gene Synonyms
JBTS4, NPH1, SLSN1
Location
Chromosome 2: 110,879,888-110,962,643 reverse strand.
GRCh37:CM000664.1
About this gene
This gene has 11 transcripts (splice variants) and is associated with 10 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000316534.4 | NPHP1-002 | 3756 | 733aa | ENSP00000313169.4 | Protein coding | CCDS2086 | O15259 | - | GENCODE basic, |
ENST00000393272.3 | NPHP1-001 | 2752 | 732aa | ENSP00000376953.3 | Protein coding | CCDS46385 | O15259 | NM_207181.2 | GENCODE basic, |
ENST00000445609.2 | NPHP1-011 | 2513 | 677aa | ENSP00000389879.2 | Protein coding | CCDS46386 | B4DQY0 O15259 | NM_001128178.1 | GENCODE basic, |
ENST00000417665.1 | NPHP1-007 | 2246 | 711aa | ENSP00000402176.1 | Protein coding | C9JNM7 | - | GENCODE basic, | |
ENST00000355301.4 | NPHP1-004 | 1932 | 614aa | ENSP00000347452.4 | Protein coding | CCDS46384 | O15259 | NM_001128179.1 | GENCODE basic, |
ENST00000418527.1 | NPHP1-003 | 742 | 121aa | ENSP00000412351.1 | Protein coding | C9J082 | - | GENCODE basic, | |
ENST00000422492.1 | NPHP1-010 | 357 | 47aa | ENSP00000392562.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000449600.1 | NPHP1-008 | 486 | 45aa | ENSP00000406453.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000496524.1 | NPHP1-005 | 10006 | No protein | - | Retained intron | - | - | - | |
ENST00000461707.1 | NPHP1-006 | 3822 | No protein | - | Retained intron | - | - | - | |
ENST00000493051.1 | NPHP1-009 | 577 | No protein | - | Retained intron | - | - | - |