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 Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GJC2 | NM_020435.3 | 2 | 1033 | NP_065168.2 |
AY285161.1 | 1 | 711 | AAP37488.1 | |
BC035840.1 | 2 | 787 | AAH35840.1 | |
BC089439.1 | 2 | 1033 | AAH89439.1 |
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 | IBA57 IBA57-AS1 GJC2 GUK1 |
nsv1160102 | Chr.1:228081212 - 228239280 on Build GRCh38 | Deletion | IBA57 C1orf145 IBA57-AS1 OBSCN ARF1 MIR3620 GJC2 GUK1 MRPL55 C1orf35 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | MIR6742 C1orf145 WNT3A OBSCN LOC101927401 SNAP47 MRPL55 C1orf35 PRSS38 MIR4666A TRIM11 LOC105373289 HIST3H2BB LOC107985355 LOC100506571 IBA57 JMJD4 LOC101060022 IBA57-AS1 RNF187 WNT9A ARF1 MIR3620 GJC2 GUK1 MIR5008 TRIM17 HIST3H3 HIST3H2A |
nsv827031 | Chr.1:228156381 - 228162089 on Build GRCh38 | Gain | GJC2 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | DUSP5P1 WNT3A RNA5S12 LOC105373132 MRPL55 C1orf35 PRSS38 MIR4666A TRIM11 RNA5S5 LOC105373289 RHOU RNA5S9 RNA5S16 HIST3H2BB RNA5S17 RNA5S10 LOC100506571 IBA57 IBA57-AS1 BTNL10 MIR3620 GJC2 RNA5S1 GUK1 RNA5S3 TRIM17 RNA5S14 RNA5S13 RNA5S15 HIST3H2A MIR6742 C1orf145 OBSCN LOC101927401 SNAP47 RNA5S2 RNA5S4 RNA5S6 RNA5S11 LOC107985355 JMJD4 LOC101060022 RNF187 WNT9A ARF1 RNA5S7 MIR5008 RNA5S8 HIST3H3 |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | MIR6742 IBA57 C1orf145 IBA57-AS1 OBSCN LOC101927401 GJC2 GUK1 TRIM17 HIST3H3 MIR4666A TRIM11 HIST3H2BB HIST3H2A |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | MIR6742 C1orf145 WNT3A OBSCN LOC101927401 MRPL55 C1orf35 MIR4666A TRIM11 HIST3H2BB LOC107985355 LOC100506571 IBA57 LOC101060022 IBA57-AS1 RNF187 WNT9A ARF1 MIR3620 GJC2 GUK1 MIR5008 TRIM17 HIST3H3 HIST3H2A |
dgv839n54 | Chr.1:228139958 - 228183397 on Build GRCh38 | Loss | IBA57 IBA57-AS1 GJC2 GUK1 |
nsv549291 | Chr.1:228151238 - 228163073 on Build GRCh38 | Loss | GJC2 |
nsv549290 | Chr.1:228145951 - 228162105 on Build GRCh38 | Loss | GJC2 GUK1 |
dgv105n67 | Chr.1:228157036 - 228160245 on Build GRCh38 | Gain | GJC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |