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

Chr.1:227731890 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00701069_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 1846 NP_001154937.1
NM_023007.2 6 1894 NP_075383.2
XM_011544262.2 5 1759 XP_011542564.1
AK022579.1 6 1894 BAB14109.1
AK023030.1 6 1824 BAB14366.1
AK026908.1 2 2285

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