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 Intron 3 |
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 | ||||
XM_011523098.1 | XP_011521400.1 | |||
AF281063.1 | AAG01448.1 | |||
AK302055.1 | ||||
BC132711.1 | ||||
BC132713.1 | ||||
BG480548.1 | ||||
BI826757.1 | ||||
BT006841.1 | AAP35487.1 | |||
BX363674.2 | ||||
CF131483.1 | ||||
D38554.1 | BAA07557.1 | |||
HY008690.1 | ||||
HY089525.1 | ||||
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 | MC1R TCF25 CHMP1A VPS9D1 DBNDD1 FANCA AFG3L1P VPS9D1-AS1 GAS8 SPIRE2 CDK10 SPATA2L CENPBD1 TUBB3 LOC107984817 LOC105371419 GAS8-AS1 SPATA33 DPEP1 ZNF276 DEF8 |
nsv428331 | Chr.16:89216635 - 90185980 on Build GRCh38 | Gain+Loss | ANKRD11 MC1R CHMP1A LOC101927817 VPS9D1-AS1 SPIRE2 CDK10 TUBB3 LOC107984817 LOC105371419 TUBB8P7 GAS8-AS1 LOC100287036 DPEP1 DEF8 FAM157C RPL13 SNORD68 CPNE7 TCF25 SPG7 VPS9D1 URAHP DBNDD1 FANCA AFG3L1P PRDM7 LOC105371414 GAS8 SPATA2L CENPBD1 ZNF778 SPATA33 ZNF276 |
nsv573739 | Chr.16:89625890 - 89696855 on Build GRCh38 | Gain | CHMP1A CDK10 SPATA2L SPATA33 DPEP1 |
nsv1063483 | Chr.16:89347250 - 89661187 on Build GRCh38 | Gain | RPL13 ANKRD11 SNORD68 CPNE7 SPG7 CHMP1A LOC101927817 SPATA33 DPEP1 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | ANKRD11 MC1R SLC22A31 RNF166 PABPN1L GALNS VPS9D1-AS1 LOC100289580 TUBB3 PIEZO1 TUBB8P7 ACSF3 LOC100287036 DPEP1 DEF8 FAM157C SNORD68 CDT1 CPNE7 TCF25 SPG7 URAHP LINC00304 FANCA AFG3L1P TRAPPC2L LOC101927793 CBFA2T3 CENPBD1 ZNF778 SPATA33 ZNF276 MIR4722 CHMP1A LOC101927817 IL17C LOC400558 MVD SPIRE2 CDK10 LOC107984817 LOC105371419 GAS8-AS1 CYBA LOC107987238 RPL13 SNAI3 VPS9D1 DBNDD1 LOC105371409 PRDM7 LOC105371414 SNAI3-AS1 LOC100129697 GAS8 APRT SPATA2L CDH15 LOC339059 CTU2 |
nsv509639 | Chr.16:89513538 - 89775915 on Build GRCh38 | Insertion | RPL13 SNORD68 CPNE7 SPG7 CHMP1A VPS9D1 FANCA VPS9D1-AS1 CDK10 SPATA2L SPATA33 DPEP1 ZNF276 |
nsv1066382 | Chr.16:89537178 - 89661187 on Build GRCh38 | Gain | RPL13 SNORD68 CPNE7 SPG7 CHMP1A SPATA33 DPEP1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |