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 | 1603 | NP_065168.2 |
AY285161.1 | AAP37488.1 | |||
BC089439.1 | 2 | 1603 | 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 | GUK1 IBA57 GJC2 IBA57-AS1 |
nsv1160102 | Chr.1:228081212 - 228239280 on Build GRCh38 | Deletion | C1orf145 OBSCN GUK1 ARF1 IBA57 MIR3620 C1orf35 MRPL55 GJC2 IBA57-AS1 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | TRIM17 TRIM11 HIST3H3 LOC101060022 LOC105373289 HIST3H2BB LOC101927401 MIR5008 OBSCN GUK1 IBA57 WNT9A WNT3A C1orf35 LOC100506571 ARF1 MIR3620 HIST3H2A C1orf145 LOC107985355 RNF187 JMJD4 MIR4666A MRPL55 SNAP47 PRSS38 GJC2 MIR6742 IBA57-AS1 |
nsv827031 | Chr.1:228156381 - 228162089 on Build GRCh38 | Gain | GJC2 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | TRIM17 LOC105373132 RNA5S14 RNA5S1 BTNL10 WNT9A C1orf35 RNA5S11 RNA5S15 RNA5S2 MIR3620 RNA5S8 RNA5S13 HIST3H2A C1orf145 RNA5S16 RNF187 RNA5S12 MIR4666A MRPL55 SNAP47 RNA5S5 TRIM11 HIST3H3 LOC101060022 LOC105373289 HIST3H2BB LOC101927401 MIR5008 RNA5S9 OBSCN GUK1 IBA57 WNT3A RHOU RNA5S10 RNA5S6 LOC100506571 ARF1 RNA5S3 DUSP5P1 RNA5S7 RNA5S4 LOC107985355 JMJD4 RNA5S17 PRSS38 GJC2 MIR6742 IBA57-AS1 |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | TRIM17 TRIM11 HIST3H3 HIST3H2BB HIST3H2A C1orf145 LOC101927401 OBSCN GUK1 IBA57 MIR4666A GJC2 MIR6742 IBA57-AS1 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | TRIM17 TRIM11 HIST3H3 LOC101060022 HIST3H2BB LOC101927401 MIR5008 OBSCN GUK1 IBA57 WNT9A WNT3A C1orf35 LOC100506571 ARF1 MIR3620 HIST3H2A C1orf145 LOC107985355 RNF187 MIR4666A MRPL55 GJC2 MIR6742 IBA57-AS1 |
dgv839n54 | Chr.1:228139958 - 228183397 on Build GRCh38 | Loss | GUK1 IBA57 GJC2 IBA57-AS1 |
nsv549291 | Chr.1:228151238 - 228163073 on Build GRCh38 | Loss | GJC2 |
nsv549290 | Chr.1:228145951 - 228162105 on Build GRCh38 | Loss | GUK1 GJC2 |
dgv105n67 | Chr.1:228157036 - 228160245 on Build GRCh38 | Gain | GJC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |