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 | 1846 | NP_001154937.1 |
NM_023007.2 | 6 | 1894 | NP_075383.2 | |
XM_011544262.2 | 5 | 1759 | XP_011542564.1 | |
AK022579.1 | 6 | 1894 | BAB14109.1 | |
AK023030.1 | 6 | 1824 | BAB14366.1 | |
AK026908.1 | 2 | 2285 |
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 | LOC105373289 JMJD4 SNAP47 ZNF678 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | LOC107985355 GJC2 HIST3H2A HIST3H3 LOC105373289 WNT3A JMJD4 MIR6742 C1orf35 IBA57 OBSCN IBA57-AS1 GUK1 MIR4666A C1orf145 TRIM11 RNF187 MIR5008 PRSS38 LOC101927401 MRPL55 SNAP47 MIR3620 ARF1 TRIM17 WNT9A HIST3H2BB LOC100506571 LOC101060022 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S5 WNT3A JMJD4 MIR6742 C1orf35 IBA57 GUK1 MIR4666A RNA5S1 DUSP5P1 TRIM11 RNF187 LOC105373132 RNA5S13 RNA5S7 MRPL55 ARF1 TRIM17 WNT9A HIST3H2BB RNA5S14 LOC100506571 RNA5S6 RNA5S12 LOC101060022 RNA5S8 LOC107985355 GJC2 HIST3H2A HIST3H3 RNA5S3 LOC105373289 RHOU RNA5S9 OBSCN IBA57-AS1 RNA5S10 C1orf145 BTNL10 RNA5S15 RNA5S4 RNA5S2 RNA5S11 MIR5008 RNA5S16 PRSS38 LOC101927401 SNAP47 MIR3620 RNA5S17 |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | JMJD4 SNAP47 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |