Assay Details
Target Gene Details
Entrez Gene ID: | 521 |
Gene Name: | ATP synthase, H+ transporting, mitochondrial Fo complex subunit E |
Gene Aliases: |
ATP5K |
Location: |
Chr.4:672436-674338 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP5I | NM_007100.3 | NP_009031.1 | ||
NR_033743.1 | ||||
AB028624.1 | BAA78778.1 | |||
AK000656.1 | ||||
BC003679.1 | AAH03679.1 | |||
BC105610.1 | ||||
BF215596.1 | ||||
BG940181.1 | ||||
BT006922.1 | AAP35568.1 | |||
D50371.1 | BAA23322.1 | |||
DA119852.1 |
Target Gene Details
Entrez Gene ID: | 4636 |
Gene Name: | myosin light chain 5 |
Gene Aliases: |
- |
Location: |
Chr.4:674199-682033 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MYL5 | XM_006713886.2 | XP_006713949.1 | ||
AK123974.1 | 1 | 647 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv593206 | Chr.4:632173 - 741362 on Build GRCh38 | Loss | MFSD7 MYL5 PCGF3 ATP5I LOC101928521 PDE6B |
esv2759217 | Chr.4:609419 - 937566 on Build GRCh38 | Loss | MFSD7 LOC100129917 TMEM175 CPLX1 MYL5 PCGF3 ATP5I LOC101928521 PDE6B GAK LOC107986211 |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | LOC100130872 TMEM175 CRIPAK CTBP1 PCGF3 ATP5I TMED11P MAEA FGFRL1 MFSD7 CTBP1-AS NKX1-1 GAK SLC26A1 SPON2 LOC101928548 LOC100129917 RNF212 CPLX1 MYL5 LOC101928521 DGKQ LOC107986211 LOC105374344 CTBP1-AS2 PDE6B UVSSA IDUA |
nsv829834 | Chr.4:671688 - 781736 on Build GRCh38 | Loss | MFSD7 LOC100129917 MYL5 PCGF3 ATP5I LOC107986211 |
nsv950325 | Chr.4:620112 - 796912 on Build GRCh38 | Deletion | MFSD7 LOC100129917 CPLX1 MYL5 PCGF3 ATP5I LOC101928521 PDE6B LOC107986211 |
nsv593208 | Chr.4:674211 - 688444 on Build GRCh38 | Loss | MFSD7 MYL5 ATP5I |
nsv508986 | Chr.4:527899 - 756994 on Build GRCh38 | Insertion | MFSD7 MYL5 PCGF3 ATP5I LOC101928521 PIGG PDE6B LOC107986211 |
nsv10413 | Chr.4:673415 - 690512 on Build GRCh38 | Gain | MFSD7 MYL5 ATP5I |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |