Assay Details
Target Gene Details
Entrez Gene ID: | 219844 |
Gene Name: | HYLS1, centriolar and ciliogenesis associated |
Gene Aliases: |
HLS |
Location: |
Chr.11:125883614-125900646 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HYLS1 | NM_001134793.1 | NP_001128265.1 | ||
NM_145014.2 | NP_659451.1 | |||
XM_005271430.2 | XP_005271487.1 | |||
XM_006718777.3 | XP_006718840.1 | |||
XM_011542659.2 | XP_011540961.1 | |||
XM_017017320.1 | XP_016872809.1 | |||
XM_017017321.1 | XP_016872810.1 | |||
AK057477.1 | BAB71503.1 | |||
AK127394.1 | ||||
BC015047.1 | AAH15047.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv248n67 | Chr.11:125843561 - 125919531 on Build GRCh38 | Gain | DDX25 PUS3 HYLS1 LOC105369553 |
nsv556526 | Chr.11:125778321 - 125896149 on Build GRCh38 | Loss | PATE3 PATE4 PUS3 HYLS1 PATE2 LOC105369553 |
nsv556525 | Chr.11:125690285 - 125971104 on Build GRCh38 | Gain | PATE3 PATE4 DDX25 CDON PUS3 PATE1 LOC338667 HYLS1 PATE2 LOC105369553 |
esv32964 | Chr.11:125495069 - 126046387 on Build GRCh38 | Gain+Loss | PATE3 PATE4 EI24 DDX25 CDON FEZ1 STT3A PUS3 LOC338667 HYLS1 STT3A-AS1 PATE1 CHEK1 PATE2 LOC403312 LOC105369553 ACRV1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |