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 | 1316 | NP_149349.2 |
NM_153281.1 | 6 | 1583 | NP_695013.1 | |
NM_153282.2 | 3 | 1226 | NP_695014.1 | |
NM_153283.2 | 4 | 959 | NP_695015.1 | |
NM_153285.2 | 4 | 541 | NP_695017.1 | |
NR_047690.1 | 3 | 1801 | ||
XM_011533667.2 | 5 | 1706 | XP_011531969.1 | |
XM_011533668.2 | 4 | 1597 | XP_011531970.1 | |
XM_011533669.2 | 5 | 1994 | XP_011531971.1 | |
AF118821.1 | 4 | 1281 | AAD24460.1 | |
AF173154.1 | 4 | 1287 | AAD53277.1 | |
AF502904.1 | 3 | 1198 | AAM60770.1 | |
AF502905.1 | 4 | 931 | AAM60771.1 | |
AF502906.1 | 4 | 951 | AAM60772.1 | |
AF502907.1 | 4 | 513 | AAM60773.1 | |
AF502908.1 | 3 | 364 | AAM60774.1 | |
AK097287.1 | 6 | 1583 | ||
AK290816.1 | 4 | 1308 | ||
BC025774.1 | 3 | 1451 | AAH25774.1 | |
BC035695.1 | 4 | 1270 | AAH35695.1 | |
CR541933.1 | 2 | 1066 | CAG46731.1 | |
KU178142.1 | 3 | 1156 | ||
KU178143.1 | 2 | 1066 | ||
U03056.2 | 3 | 1772 | AAD09137.2 | |
U96078.1 | 3 | 1766 | 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 | HYAL2 SEMA3B MIR5787 MIR6872 LSMEM2 TUSC2 NAT6 HYAL1 IFRD2 GNAT1 SEMA3B-AS1 SLC38A3 GNAI2 RASSF1 SEMA3F HYAL3 MIR566 |
nsv523560 | Chr.3:50134964 - 50314769 on Build GRCh38 | Loss | SEMA3B MIR5787 SEMA3F-AS1 MIR6872 LSMEM2 NAT6 HYAL1 IFRD2 GNAT1 SEMA3B-AS1 SLC38A3 GNAI2 LOC107986035 SEMA3F HYAL3 MIR566 |
nsv3813 | Chr.3:50296180 - 50330789 on Build GRCh38 | Deletion | HYAL2 TUSC2 RASSF1 NAT6 HYAL3 HYAL1 |
dgv8317n54 | Chr.3:50206077 - 50383123 on Build GRCh38 | Loss | ZMYND10 NPRL2 HYAL2 SEMA3B MIR5787 MIR6872 LSMEM2 TUSC2 NAT6 HYAL1 IFRD2 RASSF1-AS1 SEMA3B-AS1 SLC38A3 CACNA2D2 TMEM115 GNAI2 RASSF1 CYB561D2 HYAL3 |
nsv834693 | Chr.3:50251400 - 50470533 on Build GRCh38 | Loss | ZMYND10 NPRL2 HYAL2 SEMA3B MIR6872 LSMEM2 TUSC2 NAT6 HYAL1 IFRD2 RASSF1-AS1 SEMA3B-AS1 CACNA2D2 TMEM115 GNAI2 RASSF1 CYB561D2 HYAL3 |
nsv834692 | Chr.3:50161052 - 50356033 on Build GRCh38 | Loss | ZMYND10 NPRL2 HYAL2 SEMA3B MIR5787 MIR6872 LSMEM2 TUSC2 NAT6 HYAL1 IFRD2 GNAT1 RASSF1-AS1 SEMA3B-AS1 SLC38A3 TMEM115 GNAI2 RASSF1 CYB561D2 SEMA3F HYAL3 MIR566 |
nsv470561 | Chr.3:50121341 - 50547568 on Build GRCh38 | Loss | SEMA3B MIR5787 SEMA3F-AS1 MIR6872 TUSC2 IFRD2 GNAT1 RASSF1-AS1 SEMA3B-AS1 SLC38A3 TMEM115 GNAI2 RASSF1 LOC107986035 CYB561D2 HYAL3 MIR566 ZMYND10 NPRL2 HYAL2 LSMEM2 NAT6 HYAL1 CACNA2D2 SEMA3F |
nsv523662 | Chr.3:50107518 - 50547568 on Build GRCh38 | Loss | SEMA3B MIR5787 SEMA3F-AS1 MIR6872 TUSC2 IFRD2 GNAT1 RASSF1-AS1 SEMA3B-AS1 SLC38A3 TMEM115 GNAI2 RASSF1 LOC107986035 CYB561D2 HYAL3 MIR566 ZMYND10 NPRL2 RBM5 HYAL2 LSMEM2 NAT6 HYAL1 CACNA2D2 SEMA3F |
nsv590255 | Chr.3:50210391 - 50399396 on Build GRCh38 | Loss | ZMYND10 NPRL2 HYAL2 SEMA3B MIR5787 MIR6872 LSMEM2 TUSC2 NAT6 HYAL1 IFRD2 RASSF1-AS1 SEMA3B-AS1 SLC38A3 CACNA2D2 TMEM115 GNAI2 RASSF1 CYB561D2 HYAL3 |
nsv954855 | Chr.3:50152468 - 50439169 on Build GRCh38 | Deletion | SEMA3B MIR5787 SEMA3F-AS1 MIR6872 TUSC2 IFRD2 GNAT1 RASSF1-AS1 SEMA3B-AS1 SLC38A3 TMEM115 GNAI2 RASSF1 LOC107986035 CYB561D2 HYAL3 MIR566 ZMYND10 NPRL2 HYAL2 LSMEM2 NAT6 HYAL1 CACNA2D2 SEMA3F |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |