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