Assay Details
Target Gene Details
Entrez Gene ID: | 443 |
Gene Name: | aspartoacylase |
Gene Aliases: |
ACY2, ASP |
Location: |
Chr.17:3474106-3502534 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ASPA | NM_000049.2 | NP_000040.1 | ||
NM_001128085.1 | NP_001121557.1 | |||
XM_017024661.1 | XP_016880150.1 | |||
AK312901.1 | ||||
BC029128.1 | AAH29128.1 | |||
CR541908.1 | CAG46706.1 | |||
S67156.1 | AAB29190.1 |
Target Gene Details
Entrez Gene ID: | 84690 |
Gene Name: | spermatogenesis associated 22 |
Gene Aliases: |
NYD-SP20, NYDSP20 |
Location: |
Chr.17:3440011-3513852 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SPATA22 | NM_001321336.1 | NP_001308265.1 | ||
NM_001321337.1 | NP_001308266.1 | |||
AK295299.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3892950 | Chr.17:3131812 - 3577153 on Build GRCh38 | Loss | OR1E1 OR1A1 SPATA22 OR3A1 ASPA OR1A2 TRPV1 OR3A3 OR3A2 OR1D4 OR3A4P OR1E2 TRPV3 |
nsv574237 | Chr.17:3486822 - 3729542 on Build GRCh38 | Loss | SPATA22 P2RX5 ASPA EMC6 ITGAE TRPV1 P2RX5-TAX1BP3 SHPK TAX1BP3 TRPV3 GSG2 CTNS |
nsv1065489 | Chr.17:2631416 - 3948349 on Build GRCh38 | Gain | EMC6 OR1G1 MIR6776 SHPK TAX1BP3 PAFAH1B1 OR1E1 CCDC92B LOC101927911 OR3A1 ASPA ITGAE OR1A2 CLUH TRPV1 OR3A3 ATP2A3 OR1D4 CAMKK1 OR3A4P OR1E2 TRPV3 P2RX1 OR1D2 NCBP3 GSG2 CTNS OR1A1 SPATA22 RAP1GAP2 MIR1253 P2RX5 OR1D5 P2RX5-TAX1BP3 OR3A2 LOC105371591 LOC105371592 |
nsv574232 | Chr.17:3254715 - 3503170 on Build GRCh38 | Gain | OR1E1 SPATA22 OR3A1 ASPA OR3A3 OR3A2 OR3A4P OR1E2 |
esv2660206 | Chr.17:2679367 - 3519614 on Build GRCh38 | Deletion | OR1D2 OR1G1 MIR6776 PAFAH1B1 OR1E1 OR1A1 SPATA22 CCDC92B RAP1GAP2 LOC101927911 MIR1253 OR3A1 ASPA OR1A2 CLUH OR1D5 OR3A3 OR3A2 LOC105371591 OR1D4 OR3A4P OR1E2 TRPV3 LOC105371592 |
nsv1055740 | Chr.17:3381841 - 3890153 on Build GRCh38 | Gain | NCBP3 EMC6 SHPK TAX1BP3 GSG2 CTNS OR1E1 SPATA22 P2RX5 ASPA ITGAE TRPV1 P2RX5-TAX1BP3 OR3A3 OR3A2 CAMKK1 OR1E2 TRPV3 |
nsv528368 | Chr.17:3459775 - 3507608 on Build GRCh38 | Gain | SPATA22 ASPA |
nsv833341 | Chr.17:3352243 - 3521390 on Build GRCh38 | Loss | OR1E1 SPATA22 ASPA OR3A3 OR3A2 OR1E2 TRPV3 |
nsv525085 | Chr.17:3486714 - 3490150 on Build GRCh38 | Gain | SPATA22 ASPA |
nsv1060071 | Chr.17:3398474 - 3633472 on Build GRCh38 | Loss | SPATA22 ASPA TRPV1 OR3A3 SHPK OR1E2 TRPV3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |