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 4 - Exon 4 |
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 | |||
AK026908.1 | 1 | 910 |
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 | 1513 | XP_016855720.1 | |
XM_017000232.1 | 2 | 1319 | XP_016855721.1 | |
AF370397.1 | 1 | 623 | AAQ15233.1 | |
AK055266.1 | 3 | 1492 | ||
AK093736.1 | 2 | 1322 | ||
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 JMJD4 ZNF678 LOC105373289 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | IBA57-AS1 C1orf145 MIR5008 LOC100506571 PRSS38 WNT3A LOC101927401 OBSCN TRIM17 GUK1 MRPL55 LOC107985355 HIST3H3 MIR6742 HIST3H2A JMJD4 GJC2 LOC105373289 C1orf35 TRIM11 RNF187 IBA57 LOC101060022 MIR3620 WNT9A ARF1 HIST3H2BB SNAP47 MIR4666A |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | IBA57-AS1 RNA5S4 LOC100506571 WNT3A LOC101927401 RNA5S12 OBSCN LOC107985355 HIST3H3 MIR6742 DUSP5P1 RNA5S14 HIST3H2A RNA5S1 C1orf35 RNF187 RHOU LOC101060022 MIR3620 ARF1 RNA5S16 RNA5S5 HIST3H2BB SNAP47 RNA5S6 RNA5S7 C1orf145 LOC105373132 MIR5008 RNA5S9 PRSS38 RNA5S13 RNA5S10 BTNL10 TRIM17 GUK1 MRPL55 RNA5S17 RNA5S3 RNA5S2 JMJD4 GJC2 LOC105373289 RNA5S11 TRIM11 IBA57 WNT9A RNA5S15 RNA5S8 MIR4666A |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | SNAP47 JMJD4 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |