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 | 959 | NP_001076783.1 |
NM_002768.4 | 7 | 979 | NP_002759.2 | |
NR_046418.2 | 7 | 1147 | ||
AK302055.1 | ||||
BC010000.2 | 2 | 567 | AAH10000.2 | |
BC132711.1 | 7 | 809 | ||
BC132713.1 | 7 | 809 | ||
D38554.1 | 7 | 847 | BAA07557.1 | |
U58048.1 | 7 | 1036 | 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 | CHMP1A MC1R CDK10 DEF8 SPATA33 TCF25 AFG3L1P LOC105371419 FANCA ZNF276 VPS9D1 TUBB3 GAS8 GAS8-AS1 SPATA2L DPEP1 VPS9D1-AS1 DBNDD1 CENPBD1 SPIRE2 LOC107984817 |
nsv428331 | Chr.16:89216635 - 90185980 on Build GRCh38 | Gain+Loss | MC1R FAM157C CDK10 DEF8 AFG3L1P PRDM7 FANCA LOC105371414 ZNF276 GAS8 GAS8-AS1 SPATA2L VPS9D1-AS1 CPNE7 URAHP TUBB8P7 LOC100287036 SNORD68 SPIRE2 LOC101927817 CHMP1A ZNF778 RPL13 SPATA33 TCF25 LOC105371419 ANKRD11 VPS9D1 TUBB3 DPEP1 DBNDD1 CENPBD1 SPG7 LOC107984817 |
nsv573739 | Chr.16:89625890 - 89696855 on Build GRCh38 | Gain | SPATA2L CHMP1A DPEP1 CDK10 SPATA33 |
nsv1063483 | Chr.16:89347250 - 89661187 on Build GRCh38 | Gain | CHMP1A DPEP1 CPNE7 RPL13 SNORD68 SPG7 SPATA33 ANKRD11 LOC101927817 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | CTU2 CDK10 DEF8 PRDM7 FANCA PIEZO1 CPNE7 URAHP LOC100287036 GALNS LOC339059 SNAI3-AS1 RNF166 CDH15 LOC101927793 CHMP1A RPL13 ANKRD11 VPS9D1 LOC107987238 TUBB3 CYBA LOC100129697 MVD CBFA2T3 LOC107984817 PABPN1L MC1R FAM157C SNAI3 AFG3L1P LOC100289580 IL17C LOC105371414 ZNF276 GAS8 GAS8-AS1 SPATA2L VPS9D1-AS1 TUBB8P7 SNORD68 ACSF3 SPIRE2 LOC400558 LOC101927817 CDT1 ZNF778 SPATA33 TCF25 LOC105371419 APRT MIR4722 LINC00304 DPEP1 LOC105371409 DBNDD1 TRAPPC2L CENPBD1 SPG7 SLC22A31 |
nsv509639 | Chr.16:89513538 - 89775915 on Build GRCh38 | Insertion | CHMP1A CDK10 RPL13 SPATA33 FANCA ZNF276 VPS9D1 SPATA2L DPEP1 VPS9D1-AS1 CPNE7 SNORD68 SPG7 |
nsv1066382 | Chr.16:89537178 - 89661187 on Build GRCh38 | Gain | CHMP1A DPEP1 CPNE7 RPL13 SNORD68 SPG7 SPATA33 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |