Hs00450812_cn

• Gene Symbol: JMJD4
• Assay Reference Genome Location: Chr.1:227732084 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: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
JMJD4	NM_001161465.1	6	1652	NP_001154937.1
	NM_023007.2	6	1700	NP_075383.2
	XM_011544262.2	5	1565	XP_011542564.1
	AK022579.1	6	1700	BAB14109.1
	AK023030.1	6	1630	BAB14366.1
	AK026908.1	2	2091

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

More Information

• Set Membership: Intragenic, Exonic, Intronic, 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