Description
galactosylceramidase [Source:HGNC Symbol;Acc:4115]
Location
Chromosome 14: 88,304,164-88,460,009 reverse strand.
GRCh37:CM000676.1
About this gene
This gene has 15 transcripts (splice variants) and is associated with 6 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000261304.2 | GALC-001 | 3883 | 685aa | ENSP00000261304.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9878 | P54803 | NM_001201401.1 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000393569.2 | GALC-002 | 2547 | 659aa | ENSP00000377199.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55937 | - | NM_001201402.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000544807.2 | GALC-007 | 2528 | 589aa | ENSP00000437513.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V255 P54803 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000393568.4 | GALC-005 | 2054 | 662aa | ENSP00000377198.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55936 | E7EPA4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000555000.1 | GALC-008 | 2067 | 434aa | ENSP00000450472.1 | Nonsense mediated decay | G3V255 | - | - | |
| ENST00000557316.1 | GALC-006 | 1874 | 211aa | ENSP00000452314.1 | Nonsense mediated decay | G3V5E8 | - | - | |
| ENST00000554372.1 | GALC-009 | 717 | 112aa | ENSP00000451884.1 | Nonsense mediated decay | G3V4M2 | - | - | |
| ENST00000556879.1 | GALC-010 | 595 | 62aa | ENSP00000452208.1 | Nonsense mediated decay | H0YJV6 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000555179.1 | GALC-014 | 554 | 72aa | ENSP00000451480.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000554916.1 | GALC-011 | 631 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000556261.1 | GALC-012 | 567 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000557520.1 | GALC-016 | 408 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000474294.2 | GALC-003 | 1263 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000477716.3 | GALC-013 | 605 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000555956.1 | GALC-015 | 525 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
