Description
Niemann-Pick disease, type C1
Location
Chromosome 18: 23,506,184-23,586,898 reverse strand.
VEGA68:CM000680.2
About this gene
This gene has 14 transcripts (splice variants), 5 orthologues and 3 paralogues.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| NPC1-001 | OTTHUMT00000254823.2 | 5157 | 1278aa | OTTHUMP00000162699 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS11878 | O15118 | |
| NPC1-003 | OTTHUMT00000445479.1 | 3171 | 971aa | OTTHUMP00000261014 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | K7EQ23 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| NPC1-013 | OTTHUMT00000445485.3 | 1607 | 42aa | OTTHUMP00000261016 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | K7ENZ0 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| NPC1-002 | OTTHUMT00000445402.2 | 890 | 179aa | OTTHUMP00000260981 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | K7ERW2 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| NPC1-014 | OTTHUMT00000445663.1 | 755 | 59aa | OTTHUMP00000261104 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | K7EIH7 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| NPC1-012 | OTTHUMT00000445486.1 | 571 | 175aa | OTTHUMP00000261017 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | K7ERM4 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| NPC1-004 | OTTHUMT00000445482.3 | 2790 | 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 | - | - | |
| NPC1-005 | OTTHUMT00000445484.1 | 590 | 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 | - | - | |
| NPC1-010 | OTTHUMT00000445487.1 | 2000 | 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 | - | - | |
| NPC1-007 | OTTHUMT00000445481.2 | 809 | 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 | - | - | |
| NPC1-009 | OTTHUMT00000445489.1 | 574 | 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 | - | - | |
| NPC1-008 | OTTHUMT00000445480.1 | 561 | 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 | - | - | |
| NPC1-011 | OTTHUMT00000445488.1 | 431 | 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 | - | - | |
| NPC1-006 | OTTHUMT00000445483.1 | 410 | 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 | - | - |
