Hs00655767_cn

• Gene Symbol: JMJD4
• Assay Reference Genome Location: Chr.1:227734818 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 1 - 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	2862	XP_016855720.1
	XM_017000232.1	2	2668	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	LOC105373289 ZNF678 JMJD4 SNAP47
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	GJC2 PRSS38 MIR3620 HIST3H2A OBSCN ARF1 SNAP47 C1orf35 IBA57-AS1 GUK1 MIR6742 LOC100506571 MIR5008 HIST3H2BB LOC101060022 IBA57 RNF187 TRIM17 WNT3A HIST3H3 MRPL55 LOC107985355 MIR4666A LOC105373289 LOC101927401 C1orf145 TRIM11 JMJD4 WNT9A
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	RNA5S13 MIR3620 RNA5S11 ARF1 RNA5S6 RNA5S15 C1orf35 IBA57-AS1 MIR6742 HIST3H2BB LOC101060022 RNF187 RNA5S4 TRIM17 WNT3A RNA5S16 RNA5S10 RNA5S17 RNA5S14 RNA5S2 TRIM11 WNT9A RNA5S9 GJC2 PRSS38 HIST3H2A OBSCN RNA5S7 SNAP47 RNA5S5 GUK1 LOC100506571 MIR5008 IBA57 HIST3H3 MRPL55 LOC107985355 RNA5S3 MIR4666A LOC105373289 LOC101927401 DUSP5P1 C1orf145 BTNL10 RNA5S12 RHOU LOC105373132 RNA5S1 RNA5S8 JMJD4
nsv515496	Chr.1:227724773 - 227780237 on Build GRCh38	Loss	JMJD4 SNAP47

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