Description
Treacher Collins-Franceschetti syndrome 1 [Source:HGNC Symbol;Acc:11654]
Gene Synonyms
MFD1, TCS1, treacle
Location
Chromosome 5: 149,737,202-149,779,871 forward strand.
GRCh37:CM000667.1
About this gene
This gene has 16 transcripts (splice variants), 104 orthologues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000504761.2 | TCOF1-014 | 4467 | 1488aa | ENSP00000421655.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54936 | Q13428 Q9UFD4 | - | 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, |
| ENST00000451292.1 | TCOF1-202 | 5206 | 1525aa | ENSP00000400939.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PHK9 Q9UFD4 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000377797.3 | TCOF1-201 | 5098 | 1489aa | ENSP00000367028.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q13428 Q9UFD4 | NM_001135243.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000323668.7 | TCOF1-001 | 4832 | 1411aa | ENSP00000325223.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4306 | Q13428 Q9UFD4 | NM_000356.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000445265.2 | TCOF1-003 | 4825 | 1412aa | ENSP00000409944.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47306 | Q13428 Q9UFD4 | NM_001135245.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000513346.1 | TCOF1-008 | 4646 | 1488aa | ENSP00000427484.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7ETY2 Q9UFD4 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000439160.2 | TCOF1-002 | 4644 | 1451aa | ENSP00000406888.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47305 | Q13428 Q9UFD4 | NM_001195141.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000427724.2 | TCOF1-015 | 4272 | 1414aa | ENSP00000390717.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KQ96 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000394269.3 | TCOF1-004 | 3400 | 958aa | ENSP00000377811.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47307 | Q13428 | NM_001008657.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000513538.1 | TCOF1-010 | 701 | 67aa | ENSP00000422567.1 | 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, | |
| ENST00000515516.1 | TCOF1-011 | 661 | 188aa | ENSP00000426471.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YA99 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000506767.1 | TCOF1-012 | 869 | 148aa | ENSP00000426587.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000506063.1 | TCOF1-009 | 526 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000515035.1 | TCOF1-006 | 5240 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000514442.1 | TCOF1-007 | 5195 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000506630.1 | TCOF1-013 | 897 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
