Description
Treacher Collins-Franceschetti syndrome 1 [Source:HGNC Symbol;Acc:11654]
Gene Synonyms
MFD1, TCS1, treacle
Location
Chromosome 5: 149,737,235-149,779,871 forward strand.
About this transcript
This transcript has 26 exons, is annotated with 38 domains and features, is associated with 20250 variant alleles and maps to 902 oligo probes.
Gene
This transcript is a product of gene ENSG00000070814.13 Show transcript tableHide transcript table
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 | - | - | - |