Description
fumarylacetoacetate hydrolase (fumarylacetoacetase) [Source:HGNC Symbol;Acc:3579]
Location
Chromosome 15: 80,444,832-80,479,288 forward strand.
GRCh37:CM000677.1
About this gene
This gene has 13 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000539156.1 | FAH-004 | 3427 | 349aa | ENSP00000454271.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q53XA7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000407106.1 | FAH-001 | 2152 | 419aa | ENSP00000385080.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10314 | H0YLC7 P16930 Q53XA7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000561421.1 | FAH-006 | 1549 | 419aa | ENSP00000453347.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10314 | H0YLC7 P16930 Q53XA7 | NM_000137.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000261755.5 | FAH-005 | 1471 | 419aa | ENSP00000261755.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10314 | H0YLC7 P16930 Q53XA7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000558022.1 | FAH-007 | 568 | 161aa | ENSP00000453152.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YLC7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000561353.2 | FAH-014 | 324 | 60aa | ENSP00000454952.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000558627.1 | FAH-008 | 842 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000558767.1 | FAH-003 | 2087 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000537726.1 | FAH-002 | 1396 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000559542.1 | FAH-010 | 782 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000561369.1 | FAH-012 | 746 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000559217.1 | FAH-011 | 619 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000558514.1 | FAH-009 | 255 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
