Assay Details
Target Gene Details
Entrez Gene ID: | 57165 |
Gene Name: | gap junction protein gamma 2 |
Gene Aliases: |
CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44 |
Location: |
Chr.1:228149714-228159826 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GJC2 | NM_020435.3 | NP_065168.2 | ||
BC035840.1 | AAH35840.1 | |||
BC089439.1 | AAH89439.1 | |||
CF132637.1 | ||||
EU433401.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv952137 | Chr.1:228140600 - 228182899 on Build GRCh38 | Deletion | GJC2 IBA57 GUK1 IBA57-AS1 |
nsv1160102 | Chr.1:228081212 - 228239280 on Build GRCh38 | Deletion | C1orf35 GJC2 IBA57 GUK1 IBA57-AS1 OBSCN ARF1 MIR3620 C1orf145 MRPL55 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | LOC107985355 GUK1 OBSCN LOC105373289 HIST3H2BB HIST3H2A PRSS38 ARF1 MIR4666A C1orf145 LOC101060022 LOC100506571 C1orf35 WNT9A IBA57 MIR6742 TRIM17 LOC101927401 MRPL55 MIR5008 SNAP47 TRIM11 GJC2 HIST3H3 RNF187 IBA57-AS1 JMJD4 WNT3A MIR3620 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S8 RNA5S7 GUK1 LOC105373289 HIST3H2BB PRSS38 RNA5S15 RNA5S13 RNA5S9 MIR4666A LOC101060022 LOC100506571 C1orf35 WNT9A DUSP5P1 IBA57 TRIM17 LOC101927401 MRPL55 RNA5S5 SNAP47 TRIM11 LOC105373132 RNA5S4 MIR3620 RNA5S2 RHOU RNA5S10 RNA5S16 LOC107985355 OBSCN HIST3H2A RNA5S1 BTNL10 RNA5S12 RNA5S11 ARF1 C1orf145 RNA5S3 RNA5S6 MIR6742 RNA5S17 MIR5008 GJC2 HIST3H3 RNA5S14 RNF187 IBA57-AS1 JMJD4 WNT3A |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | IBA57 GUK1 OBSCN MIR6742 TRIM17 LOC101927401 HIST3H2BB HIST3H2A TRIM11 GJC2 HIST3H3 IBA57-AS1 MIR4666A C1orf145 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | LOC107985355 GUK1 OBSCN HIST3H2BB HIST3H2A ARF1 MIR4666A C1orf145 LOC101060022 LOC100506571 C1orf35 WNT9A IBA57 MIR6742 TRIM17 LOC101927401 MRPL55 MIR5008 TRIM11 GJC2 HIST3H3 RNF187 IBA57-AS1 WNT3A MIR3620 |
dgv839n54 | Chr.1:228139958 - 228183397 on Build GRCh38 | Loss | GJC2 IBA57 GUK1 IBA57-AS1 |
nsv549291 | Chr.1:228151238 - 228163073 on Build GRCh38 | Loss | GJC2 |
nsv549290 | Chr.1:228145951 - 228162105 on Build GRCh38 | Loss | GJC2 GUK1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |