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 | 2333 | NP_001154937.1 |
NM_023007.2 | 6 | 2381 | NP_075383.2 | |
XM_011544262.2 | 5 | 2246 | XP_011542564.1 | |
AA594981.1 | 1 | 232 | ||
AK022579.1 | 6 | 2381 | BAB14109.1 | |
AK023030.1 | 6 | 2311 | BAB14366.1 | |
AK026908.1 | 2 | 2772 |
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 2 |
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 | ZNF678 JMJD4 SNAP47 LOC105373289 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | HIST3H2BB C1orf35 RNF187 TRIM17 ARF1 WNT9A MIR6742 LOC105373289 OBSCN MIR3620 LOC101060022 TRIM11 IBA57 MRPL55 MIR5008 LOC107985355 HIST3H3 LOC100506571 JMJD4 SNAP47 GUK1 WNT3A IBA57-AS1 LOC101927401 PRSS38 C1orf145 GJC2 MIR4666A HIST3H2A |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | C1orf35 RNA5S8 RNF187 ARF1 WNT9A MIR6742 RNA5S16 RNA5S13 RNA5S12 OBSCN DUSP5P1 TRIM11 RNA5S6 IBA57 MRPL55 RNA5S3 MIR5008 LOC100506571 RNA5S5 GUK1 WNT3A IBA57-AS1 LOC101927401 RNA5S1 C1orf145 RNA5S10 LOC105373132 RNA5S4 BTNL10 HIST3H2BB RNA5S14 RNA5S15 TRIM17 LOC105373289 MIR3620 LOC101060022 LOC107985355 HIST3H3 JMJD4 RNA5S9 SNAP47 RNA5S17 PRSS38 RNA5S11 GJC2 RNA5S2 RHOU MIR4666A RNA5S7 HIST3H2A |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | JMJD4 SNAP47 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |