Hs00683846_cn

• Gene Symbol: JMJD4
• Assay Reference Genome Location: Chr.1:227735504 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 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
JMJD4	XM_011544262.2			XP_011542564.1

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: Overlaps Exon 4 - Intron 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			XP_016855720.1
	XM_017000232.1			XP_016855721.1
	AK054633.1			BAB70779.1
	AY090635.2			AAM09082.1
	BC007786.2			AAH07786.2
	BC011145.1			AAH11145.1
	BC018760.1			AAH18760.2
	BC032775.1			AAH32775.1
	BX648570.1			CAI45994.1
	GQ472206.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs148036666] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, 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