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

Chr.1:227731403 on build GRCh38
Cytoband
1q42.13
Assay ID Hs02816612_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 2333 NP_001154937.1
NM_023007.2 6 2381 NP_075383.2
XM_011544262.2 5 2246 XP_011542564.1
AA594981.1 1 232
AK022579.1 6 2381 BAB14109.1
AK023030.1 6 2311 BAB14366.1
AK026908.1 2 2772

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