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

Chr.1:227735122 on build GRCh38
Cytoband
1q42.13
Assay ID Hs02726809_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 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
JMJD4 NM_001161465.1 1 290 NP_001154937.1
NM_023007.2 1 290 NP_075383.2
XM_011544262.2 1 302 XP_011542564.1
AK022579.1 1 290 BAB14109.1
AK023030.1 1 268 BAB14366.1

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_001323931.1 1 127 NP_001310860.1
NM_001323932.1 NP_001310861.1
NM_001323933.1 NP_001310862.1
NM_001323935.1 1 127 NP_001310864.1
NM_053052.3 1 127 NP_444280.2
NR_136654.1
NR_136655.1 1 127
NR_136656.1 1 127
NR_136657.1 1 127
XM_017000231.1 3 3166 XP_016855720.1
XM_017000232.1 2 2972 XP_016855721.1
AY090635.2 1 127 AAM09082.1
BC018760.1 AAH18760.2
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 SNAP47 JMJD4 ZNF678
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain MIR5008 GUK1 SNAP47 LOC107985355 HIST3H3 TRIM17 MIR3620 MRPL55 WNT3A MIR6742 LOC100506571 HIST3H2A ARF1 PRSS38 IBA57 LOC105373289 MIR4666A C1orf145 RNF187 WNT9A LOC101927401 C1orf35 LOC101060022 HIST3H2BB OBSCN GJC2 IBA57-AS1 JMJD4 TRIM11
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain GUK1 SNAP47 RNA5S16 RNA5S6 LOC107985355 LOC105373132 RNA5S17 RNA5S14 HIST3H3 RNA5S13 TRIM17 MIR3620 MRPL55 WNT3A HIST3H2A RNA5S4 IBA57 LOC105373289 MIR4666A RNA5S15 RNA5S2 RNF187 LOC101927401 RNA5S8 RNA5S1 RNA5S7 JMJD4 TRIM11 MIR5008 RNA5S11 BTNL10 RNA5S12 RNA5S10 MIR6742 LOC100506571 ARF1 RNA5S9 RHOU PRSS38 RNA5S5 RNA5S3 C1orf145 WNT9A C1orf35 LOC101060022 DUSP5P1 HIST3H2BB OBSCN GJC2 IBA57-AS1
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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