Genomic Map
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Target Gene Details
Entrez Gene ID: | 2055 |
Gene Name: | ceroid-lipofuscinosis, neuronal 8 |
Gene Aliases: |
C8orf61, EPMR |
Location: |
Chr.8:1755778-1786570 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CLN8 | NM_018941.3 | 3 | 1014 | NP_061764.2 |
| XM_005266021.3 | 3 | 958 | XP_005266078.1 | |
| XM_005266022.1 | 3 | 1137 | XP_005266079.1 | |
| XM_005266023.1 | 3 | 855 | XP_005266080.1 | |
| XM_011534745.1 | 3 | 959 | XP_011533047.1 | |
| XM_011534746.2 | 3 | 856 | XP_011533048.1 | |
| AF123757.1 | 3 | 943 | AAF13115.1 | |
| AF123758.1 | 3 | 943 | AAF13116.1 | |
| AF123759.1 | 3 | 943 | AAF13117.1 | |
| AF123760.1 | 3 | 943 | AAF13118.1 | |
| AF123761.1 | 3 | 943 | AAF13119.1 | |
| AK312486.1 | 3 | 957 | ||
| BC007725.2 | 3 | 868 | AAH07725.1 | |
| BT007049.1 | 2 | 709 | AAP35698.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv1024325 | Chr.8:651043 - 3203837 on Build GRCh38 | Gain |
 KBTBD11-OT1
DLGAP2-AS1
ARHGEF10
MIR7160
DLGAP2
CSMD1
ERICH1
ERICH1-AS1
LOC105377792
LOC105377774
LOC401442
KBTBD11
LOC105377777
LOC101927815
MIR596
MYOM2
CLN8
LOC101928058
LOC105377781
LOC105377776
LOC101927752
MIR3674
LOC100131395
LOC286083
|
| esv3891267 | Chr.8:1755403 - 2343278 on Build GRCh38 | Gain |
KBTBD11-OT1
ARHGEF10
KBTBD11
MIR596
MIR7160
MYOM2
CLN8
LOC101928058
LOC105377781
LOC101927752
MIR3674
LOC100131395
|
| esv3615841 | Chr.8:1705527 - 1822229 on Build GRCh38 | Loss |
MIR596
CLN8
DLGAP2
LOC101927752
MIR3674
|
| dgv11822n54 | Chr.8:1748920 - 1829405 on Build GRCh38 | Loss |
ARHGEF10
MIR596
CLN8
LOC101927752
MIR3674
|
| nsv609527 | Chr.8:1733567 - 1805331 on Build GRCh38 | Loss |
CLN8
LOC101927752
MIR3674
|
| esv3576504 | Chr.8:951237 - 1906751 on Build GRCh38 | Gain |
DLGAP2-AS1
ARHGEF10
MIR596
CLN8
DLGAP2
LOC105377776
LOC101927752
MIR3674
ERICH1-AS1
LOC286083
|
| nsv609531 | Chr.8:1768870 - 2267169 on Build GRCh38 | Gain |
KBTBD11-OT1
ARHGEF10
KBTBD11
MIR596
MIR7160
MYOM2
CLN8
LOC101928058
LOC105377781
MIR3674
LOC100131395
|
| nsv509244 | Chr.8:1756513 - 1850704 on Build GRCh38 | Insertion |
ARHGEF10
MIR596
CLN8
LOC101927752
MIR3674
|
| nsv1025591 | Chr.8:1755786 - 2335806 on Build GRCh38 | Gain |
KBTBD11-OT1
ARHGEF10
KBTBD11
MIR596
MIR7160
MYOM2
CLN8
LOC101928058
LOC105377781
LOC101927752
MIR3674
LOC100131395
|
| esv3615846 | Chr.8:1735209 - 1816717 on Build GRCh38 | Loss |
CLN8
LOC101927752
MIR3674
|
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Additional Information:
For this assay, SNP(s) [rs150047904] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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