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), 4 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
