Description
huntingtin [Source:HGNC Symbol;Acc:4851]
Gene Synonyms
HD, IT15
Location
Chromosome 4: 3,076,408-3,245,676 forward strand.
GRCh37:CM000666.1
About this gene
This gene has 13 transcripts (splice variants) and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000355072.5 | HTT-001 | 13464 | 3142aa | ENSP00000347184.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43206 | D2CTD2 D2CTD4 D2CTD7 D2CTD8 D3DVR8 P42858 | NM_002111.6 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000509618.1 | HTT-011 | 429 | 112aa | ENSP00000425743.1 | 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, | |
| ENST00000513806.1 | HTT-007 | 432 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000502820.1 | HTT-004 | 287 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000510626.1 | HTT-002 | 14438 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000506137.1 | HTT-006 | 781 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000509751.1 | HTT-009 | 723 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000512909.1 | HTT-013 | 611 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000512068.1 | HTT-010 | 401 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000508321.1 | HTT-003 | 386 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000509043.1 | HTT-012 | 380 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000513326.1 | HTT-005 | 373 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000513639.1 | HTT-008 | 259 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
