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 Exon 5 - Exon 6 |
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 | SPATA2L DBNDD1 VPS9D1 FANCA LOC105371419 CDK10 ZNF276 DEF8 TCF25 MC1R DPEP1 SPIRE2 VPS9D1-AS1 SPATA33 GAS8-AS1 LOC107984817 CENPBD1 TUBB3 GAS8 CHMP1A AFG3L1P |
nsv428331 | Chr.16:89216635 - 90185980 on Build GRCh38 | Gain+Loss | SPATA2L DBNDD1 VPS9D1 FANCA LOC105371419 CDK10 RPL13 TCF25 CPNE7 MC1R ZNF778 DPEP1 SPIRE2 ANKRD11 URAHP SPATA33 TUBB8P7 LOC101927817 TUBB3 AFG3L1P LOC105371414 ZNF276 PRDM7 LOC100287036 DEF8 FAM157C SNORD68 SPG7 VPS9D1-AS1 GAS8-AS1 LOC107984817 CENPBD1 GAS8 CHMP1A |
nsv573739 | Chr.16:89625890 - 89696855 on Build GRCh38 | Gain | DPEP1 SPATA2L CDK10 SPATA33 CHMP1A |
nsv1063483 | Chr.16:89347250 - 89661187 on Build GRCh38 | Gain | SNORD68 DPEP1 ANKRD11 SPG7 SPATA33 LOC101927817 RPL13 CHMP1A CPNE7 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | DBNDD1 VPS9D1 CDK10 LOC100129697 RPL13 SNAI3-AS1 SPIRE2 SNAI3 CBFA2T3 URAHP TRAPPC2L TUBB8P7 LINC00304 LOC101927817 IL17C LOC105371414 ZNF276 DEF8 APRT SLC22A31 SNORD68 GALNS CDH15 SPG7 ACSF3 CTU2 CHMP1A SPATA2L LOC100289580 FANCA LOC105371419 TCF25 CPNE7 MC1R ZNF778 DPEP1 ANKRD11 RNF166 SPATA33 MVD TUBB3 AFG3L1P MIR4722 PRDM7 CYBA LOC107987238 LOC100287036 LOC339059 FAM157C LOC101927793 PABPN1L LOC400558 PIEZO1 VPS9D1-AS1 CDT1 GAS8-AS1 LOC107984817 LOC105371409 CENPBD1 GAS8 |
nsv509639 | Chr.16:89513538 - 89775915 on Build GRCh38 | Insertion | SPATA2L VPS9D1 FANCA CDK10 ZNF276 RPL13 CPNE7 SNORD68 DPEP1 SPG7 VPS9D1-AS1 SPATA33 CHMP1A |
nsv1066382 | Chr.16:89537178 - 89661187 on Build GRCh38 | Gain | SNORD68 DPEP1 SPG7 SPATA33 RPL13 CHMP1A CPNE7 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |