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

Chr.1:227731727 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00857828_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:

Within Exon 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
JMJD4 NM_001161465.1 6 2009 NP_001154937.1
NM_023007.2 6 2057 NP_075383.2
XM_011544262.2 5 1922 XP_011542564.1
AK022579.1 6 2057 BAB14109.1
AK023030.1 6 1987 BAB14366.1
AK026908.1 2 2448

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:

Overlaps Exon 3 - 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 ZNF678 SNAP47 LOC105373289 JMJD4
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain MIR4666A GJC2 TRIM11 HIST3H2A MIR6742 C1orf35 MRPL55 WNT9A LOC107985355 C1orf145 OBSCN MIR5008 IBA57 SNAP47 HIST3H3 WNT3A PRSS38 GUK1 RNF187 TRIM17 HIST3H2BB LOC101927401 LOC100506571 LOC105373289 MIR3620 IBA57-AS1 ARF1 LOC101060022 JMJD4
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S14 MIR6742 C1orf35 RNA5S17 WNT9A IBA57 SNAP47 PRSS38 RNA5S4 GUK1 TRIM17 RNA5S2 RNA5S7 LOC105373289 MIR3620 ARF1 RNA5S13 BTNL10 RNA5S15 RNA5S10 LOC105373132 JMJD4 MIR4666A GJC2 TRIM11 HIST3H2A DUSP5P1 MRPL55 LOC107985355 RNA5S11 C1orf145 RNA5S3 RNA5S12 OBSCN MIR5008 RNA5S5 HIST3H3 RNA5S6 WNT3A RNA5S9 RNF187 HIST3H2BB RNA5S1 LOC101927401 LOC100506571 IBA57-AS1 LOC101060022 RNA5S8 RHOU RNA5S16
nsv515496 Chr.1:227724773 - 227780237 on Build GRCh38 Loss SNAP47 JMJD4

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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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