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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
JMJD4 | NM_001161465.1 | 1 | 290 | NP_001154937.1 |
NM_023007.2 | 1 | 290 | NP_075383.2 | |
XM_011544262.2 | 1 | 302 | XP_011542564.1 | |
AK022579.1 | 1 | 290 | BAB14109.1 | |
AK023030.1 | 1 | 268 | 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 | 1 | 127 | NP_001310860.1 | |
NM_001323932.1 | NP_001310861.1 | |||
NM_001323933.1 | NP_001310862.1 | |||
NM_001323935.1 | 1 | 127 | NP_001310864.1 | |
NM_053052.3 | 1 | 127 | NP_444280.2 | |
NR_136654.1 | ||||
NR_136655.1 | 1 | 127 | ||
NR_136656.1 | 1 | 127 | ||
NR_136657.1 | 1 | 127 | ||
XM_017000231.1 | 3 | 3166 | XP_016855720.1 | |
XM_017000232.1 | 2 | 2972 | XP_016855721.1 | |
AY090635.2 | 1 | 127 | AAM09082.1 | |
BC018760.1 | AAH18760.2 | |||
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 SNAP47 JMJD4 ZNF678 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | MIR5008 GUK1 SNAP47 LOC107985355 HIST3H3 TRIM17 MIR3620 MRPL55 WNT3A MIR6742 LOC100506571 HIST3H2A ARF1 PRSS38 IBA57 LOC105373289 MIR4666A C1orf145 RNF187 WNT9A LOC101927401 C1orf35 LOC101060022 HIST3H2BB OBSCN GJC2 IBA57-AS1 JMJD4 TRIM11 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | GUK1 SNAP47 RNA5S16 RNA5S6 LOC107985355 LOC105373132 RNA5S17 RNA5S14 HIST3H3 RNA5S13 TRIM17 MIR3620 MRPL55 WNT3A HIST3H2A RNA5S4 IBA57 LOC105373289 MIR4666A RNA5S15 RNA5S2 RNF187 LOC101927401 RNA5S8 RNA5S1 RNA5S7 JMJD4 TRIM11 MIR5008 RNA5S11 BTNL10 RNA5S12 RNA5S10 MIR6742 LOC100506571 ARF1 RNA5S9 RHOU PRSS38 RNA5S5 RNA5S3 C1orf145 WNT9A C1orf35 LOC101060022 DUSP5P1 HIST3H2BB OBSCN GJC2 IBA57-AS1 |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | SNAP47 JMJD4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |