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 | 1917 | NP_001076783.1 |
NM_002768.4 | 7 | 1937 | NP_002759.2 | |
NR_046418.2 | 7 | 2105 | ||
AI356110.1 | ||||
AK302055.1 | 6 | 1211 | ||
BC010000.2 | 2 | 1525 | AAH10000.2 | |
D38554.1 | 7 | 1805 | BAA07557.1 | |
U58048.1 | 7 | 1994 | 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 | TUBB3 SPATA33 VPS9D1 DPEP1 GAS8-AS1 DEF8 LOC105371419 FANCA LOC107984817 AFG3L1P MC1R CDK10 CHMP1A CENPBD1 VPS9D1-AS1 DBNDD1 SPIRE2 SPATA2L GAS8 TCF25 ZNF276 |
nsv428331 | Chr.16:89216635 - 90185980 on Build GRCh38 | Gain+Loss | TUBB3 SPATA33 DPEP1 GAS8-AS1 LOC100287036 DEF8 LOC105371419 LOC107984817 TUBB8P7 ZNF778 RPL13 AFG3L1P MC1R CDK10 CENPBD1 DBNDD1 SPATA2L GAS8 ZNF276 SPG7 LOC101927817 VPS9D1 FANCA FAM157C CPNE7 SNORD68 URAHP LOC105371414 ANKRD11 CHMP1A VPS9D1-AS1 SPIRE2 PRDM7 TCF25 |
nsv573739 | Chr.16:89625890 - 89696855 on Build GRCh38 | Gain | SPATA33 DPEP1 CDK10 CHMP1A SPATA2L |
nsv1063483 | Chr.16:89347250 - 89661187 on Build GRCh38 | Gain | SPG7 LOC101927817 SPATA33 DPEP1 ANKRD11 CHMP1A CPNE7 RPL13 SNORD68 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | TUBB3 SPATA33 LOC105371409 PIEZO1 LOC100289580 SNAI3 GALNS LOC107984817 TUBB8P7 ZNF778 SNAI3-AS1 RPL13 AFG3L1P IL17C MC1R LOC339059 MIR4722 DBNDD1 SPATA2L CDH15 CYBA LOC107987238 SPG7 RNF166 VPS9D1 FANCA CPNE7 CBFA2T3 VPS9D1-AS1 MVD SPIRE2 PRDM7 APRT SLC22A31 DPEP1 GAS8-AS1 LOC100287036 DEF8 LOC105371419 ACSF3 PABPN1L LOC100129697 CDK10 CENPBD1 LOC400558 GAS8 ZNF276 CTU2 LOC101927817 CDT1 FAM157C TRAPPC2L LINC00304 SNORD68 URAHP LOC101927793 LOC105371414 ANKRD11 CHMP1A TCF25 |
nsv509639 | Chr.16:89513538 - 89775915 on Build GRCh38 | Insertion | SPG7 SPATA33 VPS9D1 DPEP1 FANCA CPNE7 RPL13 SNORD68 CDK10 CHMP1A VPS9D1-AS1 SPATA2L ZNF276 |
nsv1066382 | Chr.16:89537178 - 89661187 on Build GRCh38 | Gain | SPG7 SPATA33 DPEP1 CHMP1A CPNE7 RPL13 SNORD68 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |