Hs02396920_cn

• Gene Symbol: JMJD4
• Assay Reference Genome Location: Chr.1:227734660 on build GRCh38
• Cytoband: 1q42.13

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: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
JMJD4	NM_001161465.1			NP_001154937.1
	NM_023007.2			NP_075383.2
	XM_011544262.2			XP_011542564.1
	AK022579.1			BAB14109.1
	AK023030.1			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_001323932.1			NP_001310861.1
	NM_001323933.1			NP_001310862.1
	NR_136654.1
	XM_017000231.1	3	2704	XP_016855720.1
	XM_017000232.1	2	2510	XP_016855721.1
	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 SNAP47 JMJD4 LOC105373289
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	LOC101927401 IBA57-AS1 RNF187 SNAP47 WNT3A PRSS38 JMJD4 MIR3620 GUK1 MRPL55 C1orf145 ARF1 LOC100506571 TRIM11 LOC107985355 HIST3H2BB IBA57 C1orf35 HIST3H3 WNT9A MIR4666A LOC101060022 LOC105373289 MIR5008 GJC2 HIST3H2A MIR6742 OBSCN TRIM17
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	IBA57-AS1 RNF187 JMJD4 RNA5S5 GUK1 RNA5S16 RNA5S10 RNA5S14 RNA5S4 LOC100506571 RNA5S9 TRIM11 C1orf35 HIST3H3 WNT9A LOC101060022 RNA5S12 RNA5S11 BTNL10 TRIM17 LOC101927401 RNA5S15 SNAP47 WNT3A PRSS38 MIR3620 MRPL55 C1orf145 RNA5S7 ARF1 LOC107985355 HIST3H2BB RNA5S17 IBA57 RNA5S6 RNA5S2 RNA5S1 RNA5S13 DUSP5P1 MIR4666A RHOU LOC105373289 MIR5008 GJC2 RNA5S8 LOC105373132 HIST3H2A MIR6742 RNA5S3 OBSCN
nsv515496	Chr.1:227724773 - 227780237 on Build GRCh38	Loss	SNAP47 JMJD4

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protein modifying enzyme, SNARE protein

Gene Ontology Categories:

Process(es)

synaptic vesicle priming
synaptic vesicle fusion to presynaptic active zone membrane
long-term synaptic potentiation

Function(s)

protein binding
SNAP receptor activity
syntaxin binding