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 5 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000264895.6 | FRAS1-201 | 12479 | 4012aa | ENSP00000264895.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54771 | Q4W596 Q69YV4 Q86XX4 | NM_025074.6 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000512123.1 | FRAS1-008 | 9869 | 2241aa | ENSP00000422834.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q69YV4 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000325942.6 | FRAS1-001 | 7142 | 1976aa | ENSP00000326330.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54772 | Q4W596 Q86XX4 | NM_001166133.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000264899.6 | FRAS1-202 | 2654 | 737aa | ENSP00000264899.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q4W596 Q86XX4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000502446.1 | FRAS1-004 | 2217 | 666aa | ENSP00000423645.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000508900.1 | FRAS1-005 | 2169 | 652aa | ENSP00000423809.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000510944.1 | FRAS1-007 | 2125 | 426aa | ENSP00000422221.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000508909.1 | FRAS1-003 | 2297 | 39aa | ENSP00000425583.1 | Nonsense mediated decay | D6RCP6 | - | - | |
ENST00000509802.1 | FRAS1-010 | 564 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |