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 | 1289 | NP_001154937.1 |
NM_023007.2 | 6 | 1337 | NP_075383.2 | |
XM_011544262.2 | 5 | 1202 | XP_011542564.1 | |
AK022579.1 | 6 | 1337 | BAB14109.1 | |
AK023030.1 | 6 | 1267 | BAB14366.1 | |
AK026908.1 | 2 | 1728 |
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_001323932.1 | NP_001310861.1 | |||
NM_001323933.1 | NP_001310862.1 | |||
NR_136654.1 | ||||
XM_017000231.1 | 3 | 491 | XP_016855720.1 | |
XM_017000232.1 | 2 | 297 | XP_016855721.1 | |
AK055266.1 | 3 | 470 | ||
AK093736.1 | 2 | 300 | ||
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 JMJD4 ZNF678 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | MIR4666A TRIM17 HIST3H2BB RNF187 LOC107985355 HIST3H3 IBA57-AS1 SNAP47 TRIM11 LOC105373289 JMJD4 LOC101060022 LOC100506571 GJC2 HIST3H2A MRPL55 ARF1 WNT9A MIR3620 PRSS38 C1orf35 IBA57 GUK1 LOC101927401 MIR6742 C1orf145 OBSCN MIR5008 WNT3A |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | TRIM17 RNF187 HIST3H3 RNA5S17 IBA57-AS1 SNAP47 LOC105373289 RNA5S4 JMJD4 LOC100506571 RNA5S5 MRPL55 RHOU ARF1 WNT9A RNA5S12 RNA5S16 BTNL10 PRSS38 IBA57 RNA5S1 GUK1 RNA5S9 MIR6742 RNA5S14 RNA5S11 RNA5S2 OBSCN MIR5008 WNT3A MIR4666A HIST3H2BB RNA5S13 LOC107985355 DUSP5P1 RNA5S7 RNA5S3 TRIM11 LOC101060022 GJC2 RNA5S15 HIST3H2A RNA5S8 MIR3620 C1orf35 RNA5S10 RNA5S6 LOC101927401 C1orf145 LOC105373132 |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | SNAP47 JMJD4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |