Hs02816612_cn

• Gene Symbol: JMJD4
• Assay Reference Genome Location: Chr.1:227731403 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	2333	NP_001154937.1
	NM_023007.2	6	2381	NP_075383.2
	XM_011544262.2	5	2246	XP_011542564.1
	AA594981.1	1	232
	AK022579.1	6	2381	BAB14109.1
	AK023030.1	6	2311	BAB14366.1
	AK026908.1	2	2772

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 2

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