Hs01982163_cn

• Gene Symbol: JMJD4
• Assay Reference Genome Location: Chr.1:227735021 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 1

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_001323931.1			NP_001310860.1
	NM_001323932.1			NP_001310861.1
	NM_001323933.1			NP_001310862.1
	NM_001323935.1			NP_001310864.1
	NM_053052.3			NP_444280.2
	NR_136654.1
	NR_136655.1
	NR_136656.1
	NR_136657.1
	XM_017000231.1	3	3065	XP_016855720.1
	XM_017000232.1	2	2871	XP_016855721.1
	AY090635.2			AAM09082.1
	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 ZNF678 LOC105373289 SNAP47
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	C1orf35 LOC100506571 IBA57-AS1 OBSCN LOC101927401 IBA57 LOC107985355 MIR6742 HIST3H2BB PRSS38 LOC101060022 GUK1 WNT9A C1orf145 TRIM11 GJC2 WNT3A RNF187 MIR4666A HIST3H3 LOC105373289 SNAP47 TRIM17 JMJD4 MIR5008 HIST3H2A MIR3620 ARF1 MRPL55
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	C1orf35 LOC100506571 IBA57-AS1 OBSCN LOC101927401 DUSP5P1 IBA57 LOC107985355 HIST3H2BB RNA5S1 WNT9A LOC105373132 C1orf145 RNA5S10 WNT3A RNA5S13 RNA5S12 RHOU SNAP47 RNA5S4 RNA5S17 MIR5008 RNA5S16 HIST3H2A ARF1 RNA5S7 MRPL55 RNA5S9 RNA5S14 RNA5S5 MIR6742 RNA5S8 RNA5S3 BTNL10 PRSS38 RNA5S2 LOC101060022 GUK1 RNA5S6 TRIM11 GJC2 RNA5S15 RNF187 MIR4666A HIST3H3 LOC105373289 TRIM17 JMJD4 RNA5S11 MIR3620
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