Description
arylsulfatase E (chondrodysplasia punctata 1) [Source:HGNC Symbol;Acc:719]
Gene Synonyms
ASE, CDPX, CDPX1, CDPXR
Location
Chromosome X: 2,852,699-2,886,286 reverse strand.
GRCh37:CM000685.1
About this gene
This gene has 6 transcripts (splice variants), 10 paralogues and is associated with 2 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000381134.3 | ARSE-001 | 1853 | 589aa | ENSP00000370526.3 | Protein coding | CCDS14122 | C9J5G7 P51690 | NM_000047.2 | Ensembl Canonical, GENCODE Basic, |
ENST00000545496.1 | ARSE-202 | 2158 | 614aa | ENSP00000441417.1 | Protein coding | F5GYY5 | NM_001282628.1 | GENCODE Basic, | |
ENST00000540563.1 | ARSE-201 | 1899 | 544aa | ENSP00000438198.1 | Protein coding | F5H324 | NM_001282631.1 | GENCODE Basic, | |
ENST00000438544.1 | ARSE-002 | 644 | 178aa | ENSP00000406528.1 | Protein coding | C9J5G7 | - | CDS 3' incomplete, | |
ENST00000496095.1 | ARSE-004 | 395 | No protein | - | Processed transcript | - | - | - | |
ENST00000483425.1 | ARSE-003 | 248 | No protein | - | Processed transcript | - | - | - |