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Human (GRCh37.p13)
Description

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

Gene Synonyms

DKFZp686I05113, FLJ14927, FLJ22031, KIAA1500

Location

Chromosome 4: 78,978,724-79,465,423 forward strand.

GRCh37:CM000666.1

About this gene

This gene has 9 transcripts (splice variants), 4 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000264895.6FRAS1-201124794012aaENSP00000264895.6
 
Protein coding
CCDS54771Q4W596 Q69YV4 Q86XX4
NM_025074
NP_079350
GENCODE basic
ENST00000512123.1FRAS1-00898692241aaENSP00000422834.1
 
Protein coding
Q69YV4 -CDS 5' incomplete
ENST00000325942.6FRAS1-00171421976aaENSP00000326330.6
 
Protein coding
CCDS54772Q4W596 Q86XX4 NM_001166133
NP_001159605
GENCODE basic
ENST00000264899.6FRAS1-2022654737aaENSP00000264899.6
 
Protein coding
Q4W596 Q86XX4 -GENCODE basic
ENST00000502446.1FRAS1-0042217666aaENSP00000423645.1
 
Protein coding
--CDS 5' incomplete
ENST00000508900.1FRAS1-0052169652aaENSP00000423809.1
 
Protein coding
--CDS 5' incomplete
ENST00000510944.1FRAS1-0072125426aaENSP00000422221.1
 
Protein coding
--CDS 5' incomplete
ENST00000508909.1FRAS1-003229739aaENSP00000425583.1
 
Nonsense mediated decay
D6RCP6 --
ENST00000509802.1FRAS1-010564No protein-
 
Retained intron
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Gene-based displays