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: | Overlaps Intron 7 - Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP1A | NM_001083314.3 | NP_001076783.1 | ||
NM_002768.4 | NP_002759.2 | |||
NR_046418.2 | ||||
AF281063.1 | AAG01448.1 | |||
AK302055.1 | ||||
BC010000.2 | AAH10000.2 | |||
BC132711.1 | ||||
BC132713.1 | ||||
BG480548.1 | ||||
BT006841.1 | AAP35487.1 | |||
BX363674.2 | ||||
CF131483.1 | ||||
D38554.1 | BAA07557.1 | |||
U58048.1 | 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 | AFG3L1P CHMP1A SPATA33 MC1R CDK10 GAS8 TCF25 LOC105371419 VPS9D1 VPS9D1-AS1 SPIRE2 FANCA DPEP1 LOC107984817 ZNF276 GAS8-AS1 CENPBD1 DEF8 TUBB3 SPATA2L DBNDD1 |
nsv428331 | Chr.16:89216635 - 90185980 on Build GRCh38 | Gain+Loss | AFG3L1P TUBB8P7 SPATA33 GAS8 CPNE7 ANKRD11 TCF25 LOC105371419 FANCA DPEP1 LOC107984817 LOC105371414 CENPBD1 DEF8 TUBB3 RPL13 LOC100287036 SPG7 DBNDD1 LOC101927817 CHMP1A MC1R CDK10 SNORD68 VPS9D1 URAHP VPS9D1-AS1 SPIRE2 PRDM7 ZNF276 GAS8-AS1 SPATA2L FAM157C ZNF778 |
nsv573739 | Chr.16:89625890 - 89696855 on Build GRCh38 | Gain | DPEP1 CHMP1A SPATA33 CDK10 SPATA2L |
nsv1063483 | Chr.16:89347250 - 89661187 on Build GRCh38 | Gain | DPEP1 LOC101927817 CHMP1A SPATA33 RPL13 CPNE7 ANKRD11 SNORD68 SPG7 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | SPATA33 ANKRD11 TCF25 CDT1 GALNS PABPN1L DPEP1 LOC107984817 LOC100129697 LOC107987238 LOC100289580 LOC101927817 CDK10 MIR4722 URAHP VPS9D1-AS1 SLC22A31 CBFA2T3 GAS8-AS1 CDH15 SNAI3-AS1 AFG3L1P TUBB8P7 LOC400558 GAS8 APRT CPNE7 LOC105371419 PIEZO1 MVD FANCA LOC105371414 LOC101927793 CENPBD1 DEF8 TUBB3 RPL13 LOC100287036 SPG7 DBNDD1 SNAI3 CHMP1A MC1R CYBA IL17C ACSF3 SNORD68 RNF166 VPS9D1 CTU2 SPIRE2 LOC339059 PRDM7 ZNF276 SPATA2L LINC00304 FAM157C ZNF778 TRAPPC2L LOC105371409 |
nsv509639 | Chr.16:89513538 - 89775915 on Build GRCh38 | Insertion | CHMP1A SPATA33 CDK10 CPNE7 SNORD68 VPS9D1 VPS9D1-AS1 FANCA DPEP1 ZNF276 RPL13 SPATA2L SPG7 |
nsv1066382 | Chr.16:89537178 - 89661187 on Build GRCh38 | Gain | DPEP1 CHMP1A SPATA33 RPL13 CPNE7 SNORD68 SPG7 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |