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

Chr.1:227732190 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01315335_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 1546 NP_001154937.1
NM_023007.2 6 1594 NP_075383.2
XM_011544262.2 5 1459 XP_011542564.1
AK022579.1 6 1594 BAB14109.1
AK023030.1 6 1524 BAB14366.1
AK026908.1 2 1985

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