Description

Fraser syndrome 1 [Source:HGNC Symbol;Acc:19185]

Synonyms

KIAA1500, DKFZp686I05113, FLJ22031, FLJ14927

Location
About this transcript

This transcript has 42 exons, is annotated with 81 domains and features, is associated with 2678 variations and maps to 1058 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
FRAS1-201ENST00000264895.6124794012aaENSP00000264895
 
Protein coding
CCDS54771Q4W596 Q69YV4 Q86XX4
NM_025074
NP_079350
GENCODE basic
FRAS1-001ENST00000325942.671421976aaENSP00000326330
 
Protein coding
CCDS54772Q4W596 Q86XX4 NM_001166133
NP_001159605
GENCODE basic
FRAS1-008ENST00000512123.198692241aaENSP00000422834
 
Protein coding
-Q69YV4 -CDS 5' incomplete
FRAS1-202ENST00000264899.62654737aaENSP00000264899
 
Protein coding
-Q4W596 Q86XX4 -GENCODE basic
FRAS1-004ENST00000502446.12217666aaENSP00000423645
 
Protein coding
---CDS 5' incomplete
FRAS1-005ENST00000508900.12169652aaENSP00000423809
 
Protein coding
---CDS 5' incomplete
FRAS1-007ENST00000510944.12125426aaENSP00000422221
 
Protein coding
---CDS 5' incomplete
FRAS1-003ENST00000508909.1229739aaENSP00000425583
 
Nonsense mediated decay
-D6RCP6 -
FRAS1-010ENST00000509802.1564No protein-
 
Retained intron
---
Statistics

Exons: 42, Coding exons: 42, Transcript length: 7,142 bps, Translation length: 1,976 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS54772

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q86XX4

Version

ENST00000325942.6

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000362706 (version 2)
GENCODE basic gene

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

Transcript-based displays