Hs02726809_cn

• Gene Symbol: JMJD4
• Assay Reference Genome Location: Chr.1:227735122 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
JMJD4	NM_001161465.1	1	290	NP_001154937.1
	NM_023007.2	1	290	NP_075383.2
	XM_011544262.2	1	302	XP_011542564.1
	AK022579.1	1	290	BAB14109.1
	AK023030.1	1	268	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	1	127	NP_001310860.1
	NM_001323932.1			NP_001310861.1
	NM_001323933.1			NP_001310862.1
	NM_001323935.1	1	127	NP_001310864.1
	NM_053052.3	1	127	NP_444280.2
	NR_136654.1
	NR_136655.1	1	127
	NR_136656.1	1	127
	NR_136657.1	1	127
	XM_017000231.1	3	3166	XP_016855720.1
	XM_017000232.1	2	2972	XP_016855721.1
	AY090635.2	1	127	AAM09082.1
	BC018760.1			AAH18760.2
	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 SNAP47 JMJD4 ZNF678
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	MIR5008 GUK1 SNAP47 LOC107985355 HIST3H3 TRIM17 MIR3620 MRPL55 WNT3A MIR6742 LOC100506571 HIST3H2A ARF1 PRSS38 IBA57 LOC105373289 MIR4666A C1orf145 RNF187 WNT9A LOC101927401 C1orf35 LOC101060022 HIST3H2BB OBSCN GJC2 IBA57-AS1 JMJD4 TRIM11
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	GUK1 SNAP47 RNA5S16 RNA5S6 LOC107985355 LOC105373132 RNA5S17 RNA5S14 HIST3H3 RNA5S13 TRIM17 MIR3620 MRPL55 WNT3A HIST3H2A RNA5S4 IBA57 LOC105373289 MIR4666A RNA5S15 RNA5S2 RNF187 LOC101927401 RNA5S8 RNA5S1 RNA5S7 JMJD4 TRIM11 MIR5008 RNA5S11 BTNL10 RNA5S12 RNA5S10 MIR6742 LOC100506571 ARF1 RNA5S9 RHOU PRSS38 RNA5S5 RNA5S3 C1orf145 WNT9A C1orf35 LOC101060022 DUSP5P1 HIST3H2BB OBSCN GJC2 IBA57-AS1
nsv515496	Chr.1:227724773 - 227780237 on Build GRCh38	Loss	SNAP47 JMJD4

More Information

• Set Membership: Intragenic, 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