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

Chr.1:227733956 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00216540_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 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
JMJD4 NM_001161465.1 3 643 NP_001154937.1
NM_023007.2 3 643 NP_075383.2
XM_011544262.2 3 655 XP_011542564.1
AK022579.1 3 643 BAB14109.1
AK023030.1 3 621 BAB14366.1
AK026908.1 1 423

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_001323932.1 NP_001310861.1
NM_001323933.1 NP_001310862.1
NR_136654.1
XM_017000231.1 3 2000 XP_016855720.1
XM_017000232.1 2 1806 XP_016855721.1
AF370397.1 1 1110 AAQ15233.1
AK055266.1 3 1979
AK093736.1 2 1809
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 ZNF678 SNAP47 JMJD4
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain LOC105373289 RNF187 LOC107985355 TRIM11 HIST3H3 LOC100506571 IBA57 MIR6742 HIST3H2A TRIM17 MIR4666A SNAP47 JMJD4 IBA57-AS1 C1orf145 GUK1 HIST3H2BB PRSS38 WNT9A OBSCN MIR3620 LOC101927401 LOC101060022 MRPL55 C1orf35 MIR5008 WNT3A GJC2 ARF1
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S7 LOC107985355 TRIM11 LOC100506571 LOC105373132 MIR6742 RNA5S17 JMJD4 IBA57-AS1 RNA5S16 GUK1 RNA5S15 PRSS38 RNA5S9 LOC101060022 C1orf35 RNA5S5 BTNL10 RNA5S1 MIR5008 WNT3A GJC2 RNA5S3 LOC105373289 RNA5S10 RNF187 RNA5S12 RNA5S8 RHOU HIST3H3 IBA57 HIST3H2A TRIM17 MIR4666A RNA5S4 RNA5S14 SNAP47 RNA5S6 RNA5S2 C1orf145 HIST3H2BB RNA5S13 WNT9A OBSCN MIR3620 LOC101927401 DUSP5P1 MRPL55 ARF1 RNA5S11
nsv515496 Chr.1:227724773 - 227780237 on Build GRCh38 Loss SNAP47 JMJD4

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More Information


Set Membership:

Intragenic 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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