Description
nephronophthisis 3 (adolescent)
Synonyms
SLSN3, MKS7, FLJ30691, FLJ36696, CFAP31, NPH3, KIAA2000
Location
Chromosome 3: 132,680,609-132,722,442 reverse strand.
VEGA68:CM000665.2
About this gene
This gene has 10 transcripts (splice variants).
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| NPHP3-006 | OTTHUMT00000357020.2 | 4362 | 1330aa | OTTHUMP00000216295 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS3078 | Q7Z494 | |
| NPHP3-011 | OTTHUMT00000358314.1 | 721 | 87aa | OTTHUMP00000217047 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| NPHP3-002 | OTTHUMT00000357016.1 | 3852 | 538aa | OTTHUMP00000216293 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| NPHP3-003 | OTTHUMT00000357017.2 | 1616 | 123aa | OTTHUMP00000216294 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| NPHP3-009 | OTTHUMT00000357043.1 | 650 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| NPHP3-008 | OTTHUMT00000357042.1 | 435 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| NPHP3-004 | OTTHUMT00000357018.1 | 5197 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| NPHP3-005 | OTTHUMT00000357019.1 | 4493 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| NPHP3-007 | OTTHUMT00000357021.1 | 1933 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| NPHP3-010 | OTTHUMT00000358313.1 | 556 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |
