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: | Overlaps Intron 2 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
JMJD4 | NM_001161465.1 | NP_001154937.1 | ||
NM_023007.2 | NP_075383.2 | |||
XM_011544262.2 | XP_011542564.1 | |||
AK022579.1 | BAB14109.1 | |||
AK023030.1 | BAB14366.1 |
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 Exon 4 |
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 | 3 | 2704 | XP_016855720.1 | |
XM_017000232.1 | 2 | 2510 | XP_016855721.1 | |
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 SNAP47 JMJD4 LOC105373289 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | LOC101927401 IBA57-AS1 RNF187 SNAP47 WNT3A PRSS38 JMJD4 MIR3620 GUK1 MRPL55 C1orf145 ARF1 LOC100506571 TRIM11 LOC107985355 HIST3H2BB IBA57 C1orf35 HIST3H3 WNT9A MIR4666A LOC101060022 LOC105373289 MIR5008 GJC2 HIST3H2A MIR6742 OBSCN TRIM17 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | IBA57-AS1 RNF187 JMJD4 RNA5S5 GUK1 RNA5S16 RNA5S10 RNA5S14 RNA5S4 LOC100506571 RNA5S9 TRIM11 C1orf35 HIST3H3 WNT9A LOC101060022 RNA5S12 RNA5S11 BTNL10 TRIM17 LOC101927401 RNA5S15 SNAP47 WNT3A PRSS38 MIR3620 MRPL55 C1orf145 RNA5S7 ARF1 LOC107985355 HIST3H2BB RNA5S17 IBA57 RNA5S6 RNA5S2 RNA5S1 RNA5S13 DUSP5P1 MIR4666A RHOU LOC105373289 MIR5008 GJC2 RNA5S8 LOC105373132 HIST3H2A MIR6742 RNA5S3 OBSCN |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | SNAP47 JMJD4 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |