Description

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

Synonyms

TCS, treacle

Location

Chromosome 5: 150,357,639-150,400,308 forward strand.

GRCh38:CM000667.2

About this gene

This gene has 15 transcripts (splice variants), 43 orthologues, is a member of 2 Ensembl protein families and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
TCOF1-201ENST0000037779750951488aaENSP00000367028
 
Protein coding
CCDS54936Q13428 NM_001135243
NP_001128715
TSL:5GENCODE basicAPPRIS ALT2
TCOF1-001ENST0000032366848321411aaENSP00000325223
 
Protein coding
CCDS4306Q13428 NM_000356
NP_000347
TSL:1GENCODE basicAPPRIS P3
TCOF1-003ENST0000044526548251412aaENSP00000409944
 
Protein coding
CCDS47306Q13428 NM_001135245
NP_001128717
TSL:5GENCODE basicAPPRIS ALT2
TCOF1-002ENST0000043916046441451aaENSP00000406888
 
Protein coding
CCDS47305Q13428 NM_001135244
NM_001195141
NP_001128716
NP_001182070
TSL:5GENCODE basicAPPRIS ALT2
TCOF1-014ENST0000050476144671488aaENSP00000421655
 
Protein coding
CCDS54936Q13428 -TSL:1GENCODE basicAPPRIS ALT2
TCOF1-004ENST000003942693400958aaENSP00000377811
 
Protein coding
CCDS47307Q13428 NM_001008657
NP_001008657
TSL:1GENCODE basicAPPRIS ALT2
TCOF1-008ENST0000051334646461488aaENSP00000427484
 
Protein coding
-E7ETY2 -TSL:5GENCODE basicAPPRIS ALT2
TCOF1-015ENST0000042772442721414aaENSP00000390717
 
Protein coding
-J3KQ96 -CDS 3' incompleteTSL:5APPRIS ALT2
TCOF1-010ENST0000051353870167aaENSP00000422567
 
Protein coding
-H0Y8Y7 -CDS 5' incompleteTSL:5APPRIS ALT2
TCOF1-011ENST00000515516661188aaENSP00000426471
 
Protein coding
-H0YA99 -CDS 5' incompleteTSL:5APPRIS ALT2
TCOF1-012ENST00000506767869148aaENSP00000426587
 
Nonsense mediated decay
-H0YAB7 -CDS 5' incompleteTSL:5APPRIS ALT2
TCOF1-009ENST00000506063526No protein-
 
Processed transcript
---TSL:4
TCOF1-006ENST000005150355240No protein-
 
Retained intron
---TSL:2
TCOF1-007ENST000005144425195No protein-
 
Retained intron
---TSL:2
TCOF1-013ENST00000506630897No protein-
 
Retained intron
---TSL:5

Gene-based displays