Assay Details
Target Gene Details
Entrez Gene ID: | 65094 |
Gene Name: | jumonji domain containing 4 |
Gene Aliases: |
- |
Location: |
Chr.1:227731189-227735423 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
JMJD4 | NM_001161465.1 | 6 | 1652 | NP_001154937.1 |
NM_023007.2 | 6 | 1700 | NP_075383.2 | |
XM_011544262.2 | 5 | 1565 | XP_011542564.1 | |
AK022579.1 | 6 | 1700 | BAB14109.1 | |
AK023030.1 | 6 | 1630 | BAB14366.1 | |
AK026908.1 | 2 | 2091 |
Target Gene Details
Entrez Gene ID: | 116841 |
Gene Name: | synaptosome associated protein 47 |
Gene Aliases: |
C1orf142, ESFI5812, HEL-S-290, HEL170, SNAP-47, SVAP1 |
Location: |
Chr.1:227728168-227781231 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SNAP47 | NM_001323930.1 | NP_001310859.1 | ||
NM_001323932.1 | NP_001310861.1 | |||
NM_001323933.1 | NP_001310862.1 | |||
NR_136654.1 | ||||
XM_017000231.1 | XP_016855720.1 | |||
XM_017000232.1 | XP_016855721.1 | |||
AK055266.1 | ||||
AK093736.1 | ||||
BC032775.1 | AAH32775.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1007479 | Chr.1:227508167 - 227796765 on Build GRCh38 | Gain | JMJD4 ZNF678 LOC105373289 SNAP47 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | MIR3620 HIST3H2BB GJC2 LOC101927401 TRIM17 MRPL55 LOC101060022 JMJD4 RNF187 OBSCN MIR6742 PRSS38 GUK1 LOC100506571 HIST3H3 IBA57 WNT3A LOC107985355 MIR4666A IBA57-AS1 TRIM11 C1orf145 MIR5008 WNT9A ARF1 C1orf35 LOC105373289 HIST3H2A SNAP47 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S5 DUSP5P1 MIR3620 HIST3H2BB GJC2 TRIM17 MRPL55 LOC101060022 JMJD4 RNF187 RNA5S1 RNA5S6 GUK1 LOC100506571 RNA5S9 LOC105373132 HIST3H3 WNT3A IBA57-AS1 TRIM11 WNT9A RNA5S3 RNA5S13 C1orf35 LOC105373289 LOC101927401 BTNL10 OBSCN MIR6742 PRSS38 RNA5S8 RNA5S10 RNA5S7 RNA5S17 IBA57 LOC107985355 MIR4666A RNA5S2 RNA5S11 RNA5S15 C1orf145 RNA5S4 MIR5008 RNA5S16 RNA5S14 RNA5S12 ARF1 RHOU HIST3H2A SNAP47 |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | JMJD4 SNAP47 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |