ethylmalonic encephalopathy 1 [Source:HGNC Symbol;Acc:23287]
HSCO, YF13H12
Chromosome 19: 44,010,871-44,031,396 reverse strand.
GRCh37:CM000681.1
This gene has 6 transcripts (splice variants), 3 paralogues and is associated with 4 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000292147.2 | ETHE1-001 | 963 | 254aa | ENSP00000292147.1 | Protein coding | CCDS12622 | B2RCZ7 O95571 | NM_014297.3 | Ensembl Canonical, GENCODE basic, |
ENST00000600651.1 | ETHE1-004 | 1052 | 260aa | ENSP00000469037.1 | Protein coding | M0QXB5 | - | GENCODE basic, | |
ENST00000598330.1 | ETHE1-005 | 915 | 95aa | ENSP00000469219.1 | Nonsense mediated decay | M0QY80 | - | - | |
ENST00000594342.1 | ETHE1-002 | 702 | 95aa | ENSP00000469652.1 | Nonsense mediated decay | M0QY80 | - | - | |
ENST00000602138.1 | ETHE1-006 | 648 | 51aa | ENSP00000468964.1 | Nonsense mediated decay | M0QX80 | - | - | |
ENST00000595115.1 | ETHE1-003 | 593 | No protein | - | Retained intron | - | - | - |