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

Chr.1:227732447 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01362008_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 1289 NP_001154937.1
NM_023007.2 6 1337 NP_075383.2
XM_011544262.2 5 1202 XP_011542564.1
AK022579.1 6 1337 BAB14109.1
AK023030.1 6 1267 BAB14366.1
AK026908.1 2 1728

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 3 491 XP_016855720.1
XM_017000232.1 2 297 XP_016855721.1
AK055266.1 3 470
AK093736.1 2 300
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 SNAP47 LOC105373289 JMJD4 ZNF678
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain MIR4666A TRIM17 HIST3H2BB RNF187 LOC107985355 HIST3H3 IBA57-AS1 SNAP47 TRIM11 LOC105373289 JMJD4 LOC101060022 LOC100506571 GJC2 HIST3H2A MRPL55 ARF1 WNT9A MIR3620 PRSS38 C1orf35 IBA57 GUK1 LOC101927401 MIR6742 C1orf145 OBSCN MIR5008 WNT3A
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain TRIM17 RNF187 HIST3H3 RNA5S17 IBA57-AS1 SNAP47 LOC105373289 RNA5S4 JMJD4 LOC100506571 RNA5S5 MRPL55 RHOU ARF1 WNT9A RNA5S12 RNA5S16 BTNL10 PRSS38 IBA57 RNA5S1 GUK1 RNA5S9 MIR6742 RNA5S14 RNA5S11 RNA5S2 OBSCN MIR5008 WNT3A MIR4666A HIST3H2BB RNA5S13 LOC107985355 DUSP5P1 RNA5S7 RNA5S3 TRIM11 LOC101060022 GJC2 RNA5S15 HIST3H2A RNA5S8 MIR3620 C1orf35 RNA5S10 RNA5S6 LOC101927401 C1orf145 LOC105373132
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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