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