Human (GRCh37.p13)
Description

oral-facial-digital syndrome 1 [Source:HGNC Symbol;Acc:2567]

Gene Synonyms

71-7A, CXorf5, JBTS10, RP23, SGBS2

Location
About this transcript

This transcript has 23 exons, is annotated with 18 domains and features, is associated with 11764 variant alleles and maps to 721 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000380567.1OFD1-0023736872aaENSP00000369941.1
 
Protein coding
A6NF31 -GENCODE basic
ENST00000340096.6OFD1-00136111012aaENSP00000344314.6
 
Protein coding
CCDS14157A6NF31 A8K2T9 E9KL37
O75665
NM_003611.2GENCODE basic
ENST00000380550.3OFD1-2013531972aaENSP00000369923.3
 
Protein coding
B4DLQ3 O75665 -GENCODE basic
ENST00000398395.3OFD1-2021597367aaENSP00000381432.3
 
Protein coding
O75665 -GENCODE basic
ENST00000490265.1OFD1-0034259No protein-
 
Processed transcript
---
ENST00000464463.1OFD1-004812No protein-
 
Processed transcript
---
ENST00000485052.1OFD1-006685No protein-
 
Processed transcript
---
ENST00000466534.1OFD1-007534No protein-
 
Processed transcript
---
ENST00000474705.1OFD1-005496No protein-
 
Processed transcript
---
Statistics

Exons: 23, Coding exons: 23, Transcript length: 3,611 bps, Translation length: 1,012 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O75665

CCDS

This transcript is a member of the Human CCDS set: CCDS14157

Version

ENST00000340096.6

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000055808 (version 1)
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.