Description
like-glycosyltransferase [Source:HGNC Symbol;Acc:6511]
Gene Synonyms
KIAA0609, LARGE1, MDC1D, MDDGA6, MDDGB6
Location
Chromosome 22: 33,558,212-34,318,829 reverse strand.
GRCh37:CM000684.1
About this gene
This gene has 19 transcripts (splice variants), 3 paralogues and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000354992.2 | LARGE-001 | 4409 | 756aa | ENSP00000347088.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13912 | B0QYZ8 B0QYZ9 B0QZ00 B0QZ01 B0QZ02 O95461 | NM_004737.4 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000608642.1 | LARGE-013 | 5368 | 276aa | ENSP00000476866.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7ZB84 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000337431.2 | LARGE-201 | 4170 | 704aa | ENSP00000336636.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QYZ8 B0QYZ9 B0QZ00 B0QZ01 B0QZ02 O95461 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000397394.2 | LARGE-202 | 4138 | 756aa | ENSP00000380549.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13912 | B0QYZ8 B0QYZ9 B0QZ00 B0QZ01 B0QZ02 O95461 | NM_133642.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000402320.1 | LARGE-002 | 3955 | 704aa | ENSP00000385223.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QYZ8 B0QYZ9 B0QZ00 B0QZ01 B0QZ02 O95461 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000437602.2 | LARGE-203 | 2533 | 707aa | ENSP00000388544.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QYZ8 B0QYZ9 B0QZ00 B0QZ01 B0QZ02 J3KQ68 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000452586.2 | LARGE-204 | 2008 | 555aa | ENSP00000407917.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QY08 E9PH73 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000610186.1 | LARGE-014 | 1736 | 325aa | ENSP00000476364.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7ZB85 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000413114.1 | LARGE-004 | 773 | 135aa | ENSP00000415546.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QYZ8 B0QYZ9 B0QZ00 B0QZ01 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000421768.1 | LARGE-010 | 658 | 187aa | ENSP00000403841.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QY08 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000609799.1 | LARGE-012 | 581 | 183aa | ENSP00000476415.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QY11 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000423375.1 | LARGE-006 | 568 | 47aa | ENSP00000406000.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QZ00 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000434071.1 | LARGE-005 | 562 | 108aa | ENSP00000389605.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QYZ9 B0QZ00 B0QZ01 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000432776.1 | LARGE-007 | 560 | 60aa | ENSP00000411065.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QZ00 B0QZ01 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000430220.2 | LARGE-008 | 559 | 136aa | ENSP00000396277.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B0QYZ8 B0QYZ9 B0QZ00 B0QZ01 B0QZ02 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000421232.1 | LARGE-015 | 596 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000462606.1 | LARGE-009 | 549 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000494763.1 | LARGE-003 | 537 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000476315.1 | LARGE-011 | 523 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
