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 | 2009 | NP_001154937.1 |
NM_023007.2 | 6 | 2057 | NP_075383.2 | |
XM_011544262.2 | 5 | 1922 | XP_011542564.1 | |
AK022579.1 | 6 | 2057 | BAB14109.1 | |
AK023030.1 | 6 | 1987 | BAB14366.1 | |
AK026908.1 | 2 | 2448 |
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: | Overlaps Exon 3 - 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 | ZNF678 SNAP47 LOC105373289 JMJD4 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | MIR4666A GJC2 TRIM11 HIST3H2A MIR6742 C1orf35 MRPL55 WNT9A LOC107985355 C1orf145 OBSCN MIR5008 IBA57 SNAP47 HIST3H3 WNT3A PRSS38 GUK1 RNF187 TRIM17 HIST3H2BB LOC101927401 LOC100506571 LOC105373289 MIR3620 IBA57-AS1 ARF1 LOC101060022 JMJD4 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S14 MIR6742 C1orf35 RNA5S17 WNT9A IBA57 SNAP47 PRSS38 RNA5S4 GUK1 TRIM17 RNA5S2 RNA5S7 LOC105373289 MIR3620 ARF1 RNA5S13 BTNL10 RNA5S15 RNA5S10 LOC105373132 JMJD4 MIR4666A GJC2 TRIM11 HIST3H2A DUSP5P1 MRPL55 LOC107985355 RNA5S11 C1orf145 RNA5S3 RNA5S12 OBSCN MIR5008 RNA5S5 HIST3H3 RNA5S6 WNT3A RNA5S9 RNF187 HIST3H2BB RNA5S1 LOC101927401 LOC100506571 IBA57-AS1 LOC101060022 RNA5S8 RHOU RNA5S16 |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | SNAP47 JMJD4 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |