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See other JMJD4 CNV Assays ›
Gene Symbol
JMJD4
Assay Reference Genome
Location

Chr.1:227735021 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01982163_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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

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More Information


Set Membership:

Intragenic Exonic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

protein modifying enzyme SNARE protein

Gene Ontology Categories:

Function(s) Process(es)

synaptic vesicle priming
synaptic vesicle fusion to presynaptic active zone membrane
long-term synaptic potentiation
protein binding
SNAP receptor activity
syntaxin binding

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