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) and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000451292.1 | TCOF1-202 | 5206 | 1525aa | ENSP00000400939.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PHK9 Q9UFD4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000513346.1 | TCOF1-008 | 4646 | 1488aa | ENSP00000427484.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7ETY2 Q9UFD4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000504761.2 | TCOF1-014 | 4467 | 1488aa | ENSP00000421655.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54936 | Q13428 Q9UFD4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
