Assay Details
Target Gene Details
Entrez Gene ID: | 3373 |
Gene Name: | hyaluronoglucosaminidase 1 |
Gene Aliases: |
HYAL-1, LUCA1, MPS9, NAT6 |
Location: |
Chr.3:50299889-50312951 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HYAL1 | NM_033159.3 | 4 | 1504 | NP_149349.2 |
NM_153281.1 | 6 | 1771 | NP_695013.1 | |
NM_153282.2 | 3 | 1414 | NP_695014.1 | |
NM_153283.2 | 4 | 1147 | NP_695015.1 | |
NM_153285.2 | 4 | 729 | NP_695017.1 | |
NR_047690.1 | 3 | 1989 | ||
XM_011533667.2 | 5 | 1894 | XP_011531969.1 | |
XM_011533668.2 | 4 | 1785 | XP_011531970.1 | |
XM_011533669.2 | 5 | 2182 | XP_011531971.1 | |
AF118821.1 | 4 | 1469 | AAD24460.1 | |
AF173154.1 | 4 | 1475 | AAD53277.1 | |
AK097287.1 | 6 | 1771 | ||
AK290816.1 | 4 | 1496 | ||
BC025774.1 | 3 | 1639 | AAH25774.1 | |
BC035695.1 | 4 | 1458 | AAH35695.1 | |
U03056.2 | 3 | 1960 | AAD09137.2 | |
U96078.1 | 3 | 1954 | AAD04190.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2759148 | Chr.3:50161045 - 50333946 on Build GRCh38 | Loss | SEMA3F TUSC2 GNAT1 MIR6872 NAT6 MIR566 HYAL2 SLC38A3 LSMEM2 IFRD2 HYAL3 SEMA3B HYAL1 MIR5787 SEMA3B-AS1 RASSF1 GNAI2 |
nsv523560 | Chr.3:50134964 - 50314769 on Build GRCh38 | Loss | SEMA3F GNAT1 MIR6872 NAT6 SEMA3F-AS1 MIR566 SLC38A3 LSMEM2 IFRD2 LOC107986035 HYAL3 SEMA3B HYAL1 MIR5787 SEMA3B-AS1 GNAI2 |
nsv3813 | Chr.3:50296180 - 50330789 on Build GRCh38 | Deletion | TUSC2 HYAL2 NAT6 HYAL3 HYAL1 RASSF1 |
dgv8317n54 | Chr.3:50206077 - 50383123 on Build GRCh38 | Loss | TUSC2 TMEM115 MIR6872 NAT6 ZMYND10 CACNA2D2 NPRL2 HYAL2 SLC38A3 LSMEM2 IFRD2 CYB561D2 HYAL3 SEMA3B HYAL1 MIR5787 SEMA3B-AS1 RASSF1-AS1 RASSF1 GNAI2 |
nsv834693 | Chr.3:50251400 - 50470533 on Build GRCh38 | Loss | TUSC2 TMEM115 MIR6872 NAT6 ZMYND10 CACNA2D2 NPRL2 HYAL2 LSMEM2 IFRD2 CYB561D2 HYAL3 SEMA3B HYAL1 SEMA3B-AS1 RASSF1-AS1 RASSF1 GNAI2 |
nsv834692 | Chr.3:50161052 - 50356033 on Build GRCh38 | Loss | SEMA3F TUSC2 TMEM115 GNAT1 MIR6872 NAT6 ZMYND10 MIR566 NPRL2 HYAL2 SLC38A3 LSMEM2 IFRD2 CYB561D2 HYAL3 SEMA3B HYAL1 MIR5787 SEMA3B-AS1 RASSF1-AS1 RASSF1 GNAI2 |
nsv470561 | Chr.3:50121341 - 50547568 on Build GRCh38 | Loss | SEMA3F TUSC2 SEMA3F-AS1 ZMYND10 CACNA2D2 NPRL2 HYAL2 SLC38A3 HYAL3 HYAL1 MIR5787 RASSF1 GNAI2 TMEM115 GNAT1 MIR6872 NAT6 MIR566 LSMEM2 IFRD2 CYB561D2 LOC107986035 SEMA3B SEMA3B-AS1 RASSF1-AS1 |
nsv523662 | Chr.3:50107518 - 50547568 on Build GRCh38 | Loss | SEMA3F TUSC2 SEMA3F-AS1 ZMYND10 CACNA2D2 NPRL2 HYAL2 SLC38A3 HYAL3 HYAL1 MIR5787 RASSF1 GNAI2 TMEM115 GNAT1 MIR6872 NAT6 MIR566 LSMEM2 IFRD2 CYB561D2 LOC107986035 SEMA3B RBM5 SEMA3B-AS1 RASSF1-AS1 |
nsv590255 | Chr.3:50210391 - 50399396 on Build GRCh38 | Loss | TUSC2 TMEM115 MIR6872 NAT6 ZMYND10 CACNA2D2 NPRL2 HYAL2 SLC38A3 LSMEM2 IFRD2 CYB561D2 HYAL3 SEMA3B HYAL1 MIR5787 SEMA3B-AS1 RASSF1-AS1 RASSF1 GNAI2 |
nsv954855 | Chr.3:50152468 - 50439169 on Build GRCh38 | Deletion | SEMA3F TUSC2 SEMA3F-AS1 ZMYND10 CACNA2D2 NPRL2 HYAL2 SLC38A3 HYAL3 HYAL1 MIR5787 RASSF1 GNAI2 TMEM115 GNAT1 MIR6872 NAT6 MIR566 LSMEM2 IFRD2 CYB561D2 LOC107986035 SEMA3B SEMA3B-AS1 RASSF1-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |