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 | 1546 | NP_001154937.1 |
NM_023007.2 | 6 | 1594 | NP_075383.2 | |
XM_011544262.2 | 5 | 1459 | XP_011542564.1 | |
AK022579.1 | 6 | 1594 | BAB14109.1 | |
AK023030.1 | 6 | 1524 | BAB14366.1 | |
AK026908.1 | 2 | 1985 |
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 Intron 3 |
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 | XP_016855720.1 | |||
XM_017000232.1 | XP_016855721.1 | |||
AK055266.1 | ||||
AK093736.1 | ||||
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 SNAP47 LOC105373289 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | C1orf145 HIST3H2BB MIR6742 GJC2 PRSS38 MIR4666A LOC105373289 MRPL55 WNT9A ARF1 TRIM17 WNT3A LOC107985355 IBA57-AS1 MIR3620 LOC100506571 HIST3H3 OBSCN LOC101060022 IBA57 SNAP47 LOC101927401 JMJD4 MIR5008 HIST3H2A GUK1 TRIM11 RNF187 C1orf35 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | C1orf145 HIST3H2BB MIR6742 RNA5S10 LOC105373132 PRSS38 MIR4666A LOC105373289 RNA5S2 WNT9A RNA5S6 RNA5S11 MIR3620 LOC100506571 RNA5S12 RNA5S8 IBA57 BTNL10 RHOU LOC101927401 RNA5S9 JMJD4 RNA5S5 HIST3H2A GUK1 TRIM11 C1orf35 RNA5S17 RNA5S13 RNA5S1 GJC2 RNA5S16 RNA5S3 RNA5S15 MRPL55 ARF1 TRIM17 WNT3A DUSP5P1 RNA5S14 LOC107985355 IBA57-AS1 HIST3H3 OBSCN LOC101060022 SNAP47 MIR5008 RNA5S7 RNA5S4 RNF187 |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | JMJD4 SNAP47 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |