Assay Details
Target Gene Details
Entrez Gene ID: | 5119 |
Gene Name: | charged multivesicular body protein 1A |
Gene Aliases: |
CHMP1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A |
Location: |
Chr.16:89644431-89657785 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP1A | NM_001083314.3 | 6 | 1643 | NP_001076783.1 |
NM_002768.4 | 7 | 1663 | NP_002759.2 | |
NR_046418.2 | 7 | 1831 | ||
AK302055.1 | 6 | 937 | ||
BC010000.2 | 2 | 1251 | AAH10000.2 | |
D38554.1 | 7 | 1531 | BAA07557.1 | |
U58048.1 | 7 | 1720 | AAC50775.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2762221 | Chr.16:89610380 - 90039318 on Build GRCh38 | Gain+Loss | ZNF276 CDK10 LOC105371419 SPATA2L AFG3L1P VPS9D1-AS1 TUBB3 VPS9D1 GAS8-AS1 LOC107984817 SPIRE2 SPATA33 TCF25 MC1R DPEP1 CHMP1A FANCA CENPBD1 GAS8 DBNDD1 DEF8 |
nsv428331 | Chr.16:89216635 - 90185980 on Build GRCh38 | Gain+Loss | CDK10 SPATA2L TUBB3 LOC105371414 SPIRE2 PRDM7 TCF25 DPEP1 TUBB8P7 CHMP1A FANCA CENPBD1 CPNE7 SNORD68 ZNF778 RPL13 ZNF276 LOC101927817 URAHP LOC105371419 AFG3L1P VPS9D1-AS1 VPS9D1 GAS8-AS1 LOC107984817 SPATA33 MC1R ANKRD11 FAM157C LOC100287036 GAS8 DBNDD1 SPG7 DEF8 |
nsv573739 | Chr.16:89625890 - 89696855 on Build GRCh38 | Gain | DPEP1 CHMP1A CDK10 SPATA2L SPATA33 |
nsv1063483 | Chr.16:89347250 - 89661187 on Build GRCh38 | Gain | DPEP1 LOC101927817 ANKRD11 CHMP1A SPG7 SPATA33 CPNE7 SNORD68 RPL13 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | CDK10 LOC105371409 ACSF3 PRDM7 TCF25 TUBB8P7 CHMP1A FANCA CPNE7 SNORD68 ZNF778 RPL13 ZNF276 LOC400558 LOC101927817 MIR4722 URAHP LOC339059 VPS9D1-AS1 APRT LOC101927793 ANKRD11 FAM157C DBNDD1 CYBA DEF8 SLC22A31 SPATA2L TUBB3 LOC105371414 SPIRE2 TRAPPC2L LOC107987238 DPEP1 LOC100289580 CENPBD1 PIEZO1 PABPN1L SNAI3-AS1 GALNS LINC00304 SNAI3 LOC105371419 AFG3L1P VPS9D1 GAS8-AS1 LOC107984817 SPATA33 MC1R RNF166 CDH15 LOC100287036 GAS8 CTU2 LOC100129697 SPG7 CDT1 CBFA2T3 IL17C MVD |
nsv509639 | Chr.16:89513538 - 89775915 on Build GRCh38 | Insertion | ZNF276 CDK10 SPATA2L VPS9D1-AS1 VPS9D1 SPATA33 DPEP1 CHMP1A FANCA SPG7 CPNE7 SNORD68 RPL13 |
nsv1066382 | Chr.16:89537178 - 89661187 on Build GRCh38 | Gain | DPEP1 CHMP1A SPG7 SPATA33 CPNE7 SNORD68 RPL13 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |