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

Chr.1:227732084 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00450812_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 1652 NP_001154937.1
NM_023007.2 6 1700 NP_075383.2
XM_011544262.2 5 1565 XP_011542564.1
AK022579.1 6 1700 BAB14109.1
AK023030.1 6 1630 BAB14366.1
AK026908.1 2 2091

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

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More Information


Set Membership:

Intragenic Exonic Intronic 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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