Description

Treacher Collins-Franceschetti syndrome 1 [Source:HGNC Symbol;Acc:HGNC:11654]

Synonyms

TCS, treacle

INSDC coordinates

chromosome:GRCh38:CM000667.2:150357639:150400308:1

Transcripts



This gene has 15 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
TCOF1-201ENST0000037779750951488 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS54936DKFZP434G1035-201 Q13428 Q9UFD4
NM_001135243
NP_001128715
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CI2APPRIS candidate principal isoform (longest CCDS) [01-09-2014]
Glossary entry for APPRIS
APPRIS website
TCOF1-001ENST0000032366848321411 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS4306DKFZP434G1035-001 Q13428 Q9UFD4
NM_000356
NP_000347
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CIAPPRIS candidate principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
TCOF1-003ENST0000044526548251412 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS47306DKFZP434G1035-003 Q13428 Q9UFD4
NM_001135245
NP_001128717
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CIAPPRIS candidate principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
TCOF1-002ENST0000043916046441451 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS47305DKFZP434G1035-002 Q13428 Q9UFD4
NM_001135244
NM_001195141
NP_001128716
NP_001182070
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CIAPPRIS candidate principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
TCOF1-014ENST0000050476144671488 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS54936DKFZP434G1035-014 Q13428 Q9UFD4
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CI2APPRIS candidate principal isoform (longest CCDS) [01-09-2014]
Glossary entry for APPRIS
APPRIS website
TCOF1-004ENST000003942693400958 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS47307DKFZP434G1035-004 Q13428 NM_001008657
NP_001008657
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CIAPPRIS candidate principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
TCOF1-008ENST0000051334646461488 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-DKFZP434G1035-008 E7ETY2 Q9UFD4
-TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
TCOF1-015ENST0000042772442721414 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-DKFZP434G1035-015 J3KQ96 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

TCOF1-010ENST0000051353870167 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-DKFZP434G1035-010 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

TCOF1-011ENST00000515516661188 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-DKFZP434G1035-011 H0YA99 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

TCOF1-012ENST00000506767869148 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-DKFZP434G1035-012 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

TCOF1-009ENST00000506063526No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
-DKFZP434G1035-009 -TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

TCOF1-006ENST000005150355240No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-DKFZP434G1035-006 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

TCOF1-007ENST000005144425195No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-DKFZP434G1035-007 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

TCOF1-013ENST00000506630897No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-DKFZP434G1035-013 -TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays