Hs01382574_cn

• Gene Symbol: JMJD4
• Assay Reference Genome Location: Chr.1:227735306 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	106	NP_001154937.1
	NM_023007.2	1	106	NP_075383.2
	XM_011544262.2	1	118	XP_011542564.1
	AK022579.1	1	106	BAB14109.1
	AK023030.1	1	84	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	311	NP_001310860.1
	NM_001323932.1			NP_001310861.1
	NM_001323933.1			NP_001310862.1
	NM_001323935.1	1	311	NP_001310864.1
	NM_053052.3	1	311	NP_444280.2
	NR_136654.1
	NR_136655.1	1	311
	NR_136656.1	1	311
	NR_136657.1	1	311
	XM_017000231.1	3	3350	XP_016855720.1
	XM_017000232.1	2	3156	XP_016855721.1
	AY090635.2	1	311	AAM09082.1
	BC018760.1	1	150	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 JMJD4 ZNF678 SNAP47
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	LOC101060022 PRSS38 LOC105373289 GJC2 LOC107985355 C1orf35 HIST3H3 HIST3H2BB MIR3620 C1orf145 MIR5008 LOC100506571 HIST3H2A TRIM11 LOC101927401 ARF1 TRIM17 MIR6742 IBA57 MRPL55 WNT3A SNAP47 RNF187 GUK1 OBSCN WNT9A IBA57-AS1 JMJD4 MIR4666A
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	RNA5S3 PRSS38 LOC107985355 HIST3H3 RNA5S15 HIST3H2BB MIR3620 C1orf145 MIR5008 LOC100506571 TRIM11 LOC105373132 RNA5S16 TRIM17 RNA5S5 RNA5S6 IBA57 MRPL55 WNT3A RNA5S4 RNA5S10 RNA5S14 BTNL10 IBA57-AS1 RNA5S17 LOC101060022 LOC105373289 RNA5S13 GJC2 C1orf35 HIST3H2A LOC101927401 ARF1 RNA5S2 MIR6742 SNAP47 RNF187 GUK1 RNA5S9 OBSCN RNA5S1 WNT9A RNA5S12 RNA5S7 JMJD4 DUSP5P1 RNA5S11 MIR4666A RNA5S8 RHOU
nsv515496	Chr.1:227724773 - 227780237 on Build GRCh38	Loss	JMJD4 SNAP47

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