Description
nephronophthisis 3 (adolescent)
Location
Chromosome 9: 104,002,544-104,043,818 forward strand.
About this gene
This gene has 8 transcripts (splice variants), 5 orthologues and 3 paralogues.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| Nphp3-001 | OTTMUST00000078589.2 | 5899 | 1325aa | OTTMUSP00000041811 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS40749 | Q7TNH6 | |
| Nphp3-002 | OTTMUST00000078590.1 | 4722 | 1205aa | OTTMUSP00000041812 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
| Nphp3-007 | OTTMUST00000125938.1 | 418 | 136aa | OTTMUSP00000068158 | <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 |
| Nphp3-008 | OTTMUST00000154236.1 | 279 | 43aa | OTTMUSP00000079767 | <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 |
| Nphp3-005 | OTTMUST00000078593.1 | 3761 | 538aa | OTTMUSP00000041813 | 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 | OTTMUST00000078591.1 | 3925 | 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 | - | - | |
| Nphp3-004 | OTTMUST00000078592.1 | 1893 | 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 | - | - | |
| Nphp3-006 | OTTMUST00000125937.1 | 336 | 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 | - | - |
