Assay Details
Target Gene Details
Entrez Gene ID: | 10717 |
Gene Name: | adaptor related protein complex 4 beta 1 subunit |
Gene Aliases: |
BETA-4, CPSQ5, SPG47 |
Location: |
Chr.1:113894194-113905202 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 7 - Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AP4B1 | NM_001253852.2 | NP_001240781.1 | ||
NM_001253853.2 | NP_001240782.1 | |||
NM_001308312.1 | NP_001295241.1 | |||
NM_006594.4 | NP_006585.2 | |||
XM_011540523.2 | XP_011538825.1 | |||
XM_011540524.2 | XP_011538826.1 | |||
XM_011540525.2 | XP_011538827.1 | |||
XM_011540528.2 | XP_011538830.1 | |||
XM_017000088.1 | XP_016855577.1 | |||
XM_017000089.1 | XP_016855578.1 | |||
XM_017000090.1 | XP_016855579.1 | |||
XM_017000091.1 | XP_016855580.1 | |||
XM_017000092.1 | XP_016855581.1 | |||
AB209817.1 | BAD93054.1 | |||
AF092094.1 | AAD20448.1 | |||
AK001045.1 | ||||
AK057567.1 | ||||
AK093740.1 | ||||
AK300204.1 | ||||
AK314641.1 | ||||
BC014146.2 | AAH14146.1 |
Target Gene Details
Entrez Gene ID: | 100287722 |
Gene Name: | AP4B1 antisense RNA 1 |
Gene Aliases: |
- |
Location: |
Chr.1:113812612-113901237 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AP4B1-AS1 | NR_037864.1 | 4 | 289 | |
NR_125965.1 | 4 | 457 | ||
AK123199.1 | 4 | 288 | ||
DB074478.1 | 4 | 416 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3587251 | Chr.1:113871703 - 113936287 on Build GRCh38 | Loss | HIPK1-AS1 AP4B1-AS1 HIPK1 AP4B1 DCLRE1B BCL2L15 PTPN22 |
esv3587240 | Chr.1:113533246 - 114158910 on Build GRCh38 | Loss | HIPK1-AS1 AP4B1-AS1 MAGI3 HIPK1 AP4B1 DCLRE1B RSBN1 PHTF1 BCL2L15 SYT6 PTPN22 OLFML3 |
esv23869 | Chr.1:113320330 - 114358495 on Build GRCh38 | Loss | HIPK1-AS1 AP4B1-AS1 MAGI3 HIPK1 AP4B1 DCLRE1B RSBN1 PHTF1 BCL2L15 SYT6 PTPN22 OLFML3 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |