Assay Details
Target Gene Details
Entrez Gene ID: | 94104 |
Gene Name: | PAX3 and PAX7 binding protein 1 |
Gene Aliases: |
BM020, C21orf66, FSAP105, GCFC, GCFC1 |
Location: |
Chr.21:32733899-32771858 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PAXBP1 | NM_016631.3 | 18 | 2928 | NP_057715.2 |
NR_027873.1 | 18 | 2945 | ||
XM_006724066.1 | 18 | 2752 | XP_006724129.1 | |
AF208862.1 | 4 | 460 | AAF64276.1 | |
AF231920.1 | AAF72944.1 | |||
AJ279080.1 | 18 | 2754 | CAC40813.1 | |
AJ279081.1 | 18 | 2771 | CAC40814.1 | |
AK075042.1 | 7 | 799 | BAC11369.1 | |
AK093291.1 | 10 | 1923 | ||
AK128513.1 | 11 | 2813 | ||
AY033903.1 | AAK68721.1 | |||
AY033906.1 | AAK68724.1 |
Target Gene Details
Entrez Gene ID: | 100506215 |
Gene Name: | PAXBP1 antisense RNA 1 |
Gene Aliases: |
GCFC1-AS1 |
Location: |
Chr.21:32728114-32743122 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PAXBP1-AS1 | NR_038879.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3646891 | Chr.21:32675352 - 32751209 on Build GRCh38 | Gain | PAXBP1-AS1 PAXBP1 SYNJ1 |
nsv834086 | Chr.21:32710449 - 32883526 on Build GRCh38 | Loss | PAXBP1-AS1 PAXBP1 C21orf62-AS1 SYNJ1 C21orf62 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |