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

Chr.1:227731639 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00643795_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,505.00
Your Price
Online offer:
4505.0
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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 2097 NP_001154937.1
NM_023007.2 6 2145 NP_075383.2
XM_011544262.2 5 2010 XP_011542564.1
AA594981.1
AK022579.1 6 2145 BAB14109.1
AK023030.1 6 2075 BAB14366.1
AK026908.1 2 2536

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 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SNAP47 NM_001323930.1 NP_001310859.1
NM_001323932.1 2 324 NP_001310861.1
NM_001323933.1 3 269 NP_001310862.1
NR_136654.1
XM_017000231.1 2 324 XP_016855720.1
XM_017000232.1 XP_016855721.1
AK055266.1 2 303
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 SNAP47 ZNF678 LOC105373289
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain GJC2 MIR6742 TRIM17 LOC100506571 IBA57 PRSS38 MIR5008 SNAP47 LOC101927401 IBA57-AS1 C1orf35 MIR4666A JMJD4 HIST3H2BB WNT3A HIST3H2A MRPL55 WNT9A OBSCN RNF187 TRIM11 LOC107985355 C1orf145 LOC101060022 GUK1 HIST3H3 MIR3620 LOC105373289 ARF1
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S16 GJC2 LOC100506571 RNA5S3 LOC105373132 RNA5S10 RNA5S9 LOC101927401 RNA5S12 IBA57-AS1 C1orf35 RNA5S5 RNA5S4 MIR4666A WNT3A HIST3H2A RHOU WNT9A OBSCN RNA5S6 C1orf145 LOC101060022 HIST3H3 MIR3620 LOC105373289 MIR6742 TRIM17 RNA5S15 IBA57 PRSS38 MIR5008 RNA5S7 SNAP47 RNA5S11 RNA5S17 JMJD4 RNA5S1 HIST3H2BB RNA5S8 MRPL55 RNF187 TRIM11 LOC107985355 DUSP5P1 RNA5S14 BTNL10 RNA5S2 RNA5S13 GUK1 ARF1
nsv515496 Chr.1:227724773 - 227780237 on Build GRCh38 Loss JMJD4 SNAP47

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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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