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