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 | 373 | NP_065168.2 |
AY285161.1 | AAP37488.1 | |||
BC035840.1 | 2 | 127 | AAH35840.1 | |
BC089439.1 | 2 | 373 | AAH89439.1 | |
CF132637.1 | 2 | 235 | ||
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 | MRPL55 OBSCN GJC2 IBA57 ARF1 C1orf35 GUK1 MIR3620 C1orf145 IBA57-AS1 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | MIR6742 TRIM17 ARF1 GUK1 IBA57-AS1 WNT9A MIR5008 HIST3H2BB SNAP47 C1orf35 LOC101927401 HIST3H2A TRIM11 GJC2 LOC101060022 LOC107985355 MIR3620 RNF187 WNT3A JMJD4 LOC100506571 PRSS38 LOC105373289 MRPL55 OBSCN IBA57 HIST3H3 MIR4666A C1orf145 |
nsv827031 | Chr.1:228156381 - 228162089 on Build GRCh38 | Gain | GJC2 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S1 TRIM17 GUK1 RNA5S11 RNA5S5 RNA5S13 C1orf35 LOC101927401 TRIM11 DUSP5P1 JMJD4 RNA5S7 IBA57 RNA5S10 HIST3H3 RNA5S8 RNA5S14 MIR6742 RNA5S6 RNA5S12 ARF1 IBA57-AS1 WNT9A BTNL10 MIR5008 RNA5S15 RNA5S9 RNA5S3 HIST3H2BB SNAP47 HIST3H2A RHOU GJC2 LOC101060022 LOC107985355 MIR3620 RNF187 RNA5S16 WNT3A RNA5S4 LOC100506571 PRSS38 LOC105373289 MRPL55 OBSCN LOC105373132 MIR4666A RNA5S17 C1orf145 RNA5S2 |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | MIR6742 GJC2 TRIM17 GUK1 IBA57-AS1 OBSCN IBA57 HIST3H2BB LOC101927401 HIST3H3 MIR4666A HIST3H2A TRIM11 C1orf145 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | MIR6742 TRIM17 ARF1 GUK1 IBA57-AS1 WNT9A MIR5008 HIST3H2BB C1orf35 LOC101927401 HIST3H2A TRIM11 GJC2 LOC101060022 LOC107985355 MIR3620 RNF187 WNT3A LOC100506571 MRPL55 OBSCN IBA57 HIST3H3 MIR4666A C1orf145 |
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 |
dgv105n67 | Chr.1:228157036 - 228160245 on Build GRCh38 | Gain | GJC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |