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 1 - Exon 1 |
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_001323931.1 | NP_001310860.1 | |||
NM_001323932.1 | NP_001310861.1 | |||
NM_001323933.1 | NP_001310862.1 | |||
NM_001323935.1 | NP_001310864.1 | |||
NM_053052.3 | NP_444280.2 | |||
NR_136654.1 | ||||
NR_136655.1 | ||||
NR_136656.1 | ||||
NR_136657.1 | ||||
XM_017000231.1 | 3 | 3065 | XP_016855720.1 | |
XM_017000232.1 | 2 | 2871 | XP_016855721.1 | |
AY090635.2 | AAM09082.1 | |||
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 | C1orf35 LOC100506571 IBA57-AS1 OBSCN LOC101927401 IBA57 LOC107985355 MIR6742 HIST3H2BB PRSS38 LOC101060022 GUK1 WNT9A C1orf145 TRIM11 GJC2 WNT3A RNF187 MIR4666A HIST3H3 LOC105373289 SNAP47 TRIM17 JMJD4 MIR5008 HIST3H2A MIR3620 ARF1 MRPL55 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | C1orf35 LOC100506571 IBA57-AS1 OBSCN LOC101927401 DUSP5P1 IBA57 LOC107985355 HIST3H2BB RNA5S1 WNT9A LOC105373132 C1orf145 RNA5S10 WNT3A RNA5S13 RNA5S12 RHOU SNAP47 RNA5S4 RNA5S17 MIR5008 RNA5S16 HIST3H2A ARF1 RNA5S7 MRPL55 RNA5S9 RNA5S14 RNA5S5 MIR6742 RNA5S8 RNA5S3 BTNL10 PRSS38 RNA5S2 LOC101060022 GUK1 RNA5S6 TRIM11 GJC2 RNA5S15 RNF187 MIR4666A HIST3H3 LOC105373289 TRIM17 JMJD4 RNA5S11 MIR3620 |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | JMJD4 SNAP47 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |