Description
Niemann-Pick disease, type C1 [Source:HGNC Symbol;Acc:7897]
Gene Synonyms
NPC
Location
Chromosome 18: 21,086,148-21,166,862 reverse strand.
GRCh37:CM000680.1
About this gene
This gene has 15 transcripts (splice variants), 209 orthologues, 10 paralogues and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000269228.5 | NPC1-001 | 5157 | 1278aa | ENSP00000269228.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11878 | O15118 | NM_000271.4 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000591051.1 | NPC1-003 | 3171 | 971aa | ENSP00000467636.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DET3 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000412552.2 | NPC1-201 | 3171 | 960aa | ENSP00000408606.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DET3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000593280.2 | NPC1-013 | 1607 | 42aa | ENSP00000467150.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000591107.2 | NPC1-002 | 890 | 179aa | ENSP00000468438.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000590723.1 | NPC1-014 | 755 | 59aa | ENSP00000464755.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EIH7 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000586150.1 | NPC1-012 | 571 | 175aa | ENSP00000468321.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000540608.1 | NPC1-004 | 2790 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000587223.1 | NPC1-005 | 590 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000588867.1 | NPC1-010 | 2000 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000591075.1 | NPC1-007 | 809 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000586718.1 | NPC1-009 | 574 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000591955.1 | NPC1-008 | 561 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000587163.1 | NPC1-011 | 431 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000590301.1 | NPC1-006 | 410 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
