Hs00837658_cn

• Gene Symbol: JMJD4
• Assay Reference Genome Location: Chr.1:227733469 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 4 - Exon 4

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
	AK026908.1	1	910

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	1513	XP_016855720.1
	XM_017000232.1	2	1319	XP_016855721.1
	AF370397.1	1	623	AAQ15233.1
	AK055266.1	3	1492
	AK093736.1	2	1322
	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	SNAP47 JMJD4 ZNF678 LOC105373289
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	IBA57-AS1 C1orf145 MIR5008 LOC100506571 PRSS38 WNT3A LOC101927401 OBSCN TRIM17 GUK1 MRPL55 LOC107985355 HIST3H3 MIR6742 HIST3H2A JMJD4 GJC2 LOC105373289 C1orf35 TRIM11 RNF187 IBA57 LOC101060022 MIR3620 WNT9A ARF1 HIST3H2BB SNAP47 MIR4666A
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	IBA57-AS1 RNA5S4 LOC100506571 WNT3A LOC101927401 RNA5S12 OBSCN LOC107985355 HIST3H3 MIR6742 DUSP5P1 RNA5S14 HIST3H2A RNA5S1 C1orf35 RNF187 RHOU LOC101060022 MIR3620 ARF1 RNA5S16 RNA5S5 HIST3H2BB SNAP47 RNA5S6 RNA5S7 C1orf145 LOC105373132 MIR5008 RNA5S9 PRSS38 RNA5S13 RNA5S10 BTNL10 TRIM17 GUK1 MRPL55 RNA5S17 RNA5S3 RNA5S2 JMJD4 GJC2 LOC105373289 RNA5S11 TRIM11 IBA57 WNT9A RNA5S15 RNA5S8 MIR4666A
nsv515496	Chr.1:227724773 - 227780237 on Build GRCh38	Loss	SNAP47 JMJD4

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