Hs04634568_cn

• Gene Symbol: SMYD1
• Assay Reference Genome Location: Chr.2:88076059 on build GRCh38
• Cytoband: 2p11.2

Target Gene Details

• Entrez Gene ID: 150572
• Gene Name: SET and MYND domain containing 1
• Gene Aliases: BOP, KMT3D, ZMYND18, ZMYND22
• Location: Chr.2:88067780-88113384 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMYD1	NM_198274.3			NP_938015.1
	XM_005264156.2			XP_005264213.1
	AK091724.1			BAC03732.1
	AL832035.1			CAI46139.1
	AY518933.1			AAT44535.1
	BC126191.1
	BX647878.1			CAI46077.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv61n16	Chr.2:87343737 - 90254660 on Build GRCh38	Deletion	IGKV3-20 LOC107985911 RGPD2 THNSL2 IGKV2-26 IGKV1-5 PLGLB2 IGKV2-24 FABP1 LOC101927050 SMYD1 IGKV1D-13 IGKV2-29 IGKC LOC730268 EIF2AK3 IGKV1D-8 IGKV3D-15 MIR4435-1 MIR4436A KRCC1 MIR4780 FOXI3 LOC101928371 ANKRD36BP2 RPIA LINC00152 TEX37 IGK LOC101928403
dgv6947n54	Chr.2:87815738 - 88850700 on Build GRCh38	Gain	EIF2AK3 MIR4436A RGPD2 KRCC1 MIR4780 THNSL2 FOXI3 LOC101928371 FABP1 ANKRD36BP2 SMYD1 RPIA TEX37 LOC101928403
nsv1072005	Chr.2:87360367 - 90256528 on Build GRCh38	Deletion	IGKV3-20 LOC107985911 RGPD2 THNSL2 IGKV2-26 IGKV1-5 PLGLB2 IGKV2-24 FABP1 LOC101927050 SMYD1 IGKV1D-13 IGKV2-29 IGKC LOC730268 EIF2AK3 IGKV1D-8 IGKV3D-15 MIR4435-1 MIR4436A KRCC1 MIR4780 FOXI3 LOC101928371 ANKRD36BP2 RPIA LINC00152 TEX37 IGK LOC101928403
nsv1130752	Chr.2:87360364 - 90256525 on Build GRCh38	Deletion	IGKV3-20 LOC107985911 RGPD2 THNSL2 IGKV2-26 IGKV1-5 PLGLB2 IGKV2-24 FABP1 LOC101927050 SMYD1 IGKV1D-13 IGKV2-29 IGKC LOC730268 EIF2AK3 IGKV1D-8 IGKV3D-15 MIR4435-1 MIR4436A KRCC1 MIR4780 FOXI3 LOC101928371 ANKRD36BP2 RPIA LINC00152 TEX37 IGK LOC101928403
nsv582384	Chr.2:87987149 - 88773214 on Build GRCh38	Loss	EIF2AK3 RGPD2 KRCC1 MIR4780 THNSL2 FOXI3 LOC101928371 FABP1 ANKRD36BP2 SMYD1 RPIA TEX37 LOC101928403
nsv582386	Chr.2:88035188 - 89208087 on Build GRCh38	Loss	IGKV3-20 EIF2AK3 MIR4436A KRCC1 MIR4780 THNSL2 IGKV2-26 IGKV1-5 FOXI3 LOC101928371 IGKV2-24 FABP1 ANKRD36BP2 SMYD1 RPIA IGKC TEX37 IGK LOC101928403
nsv582383	Chr.2:87915816 - 88527080 on Build GRCh38	Gain	FOXI3 FABP1 SMYD1 RGPD2 KRCC1 TEX37 MIR4780 THNSL2

More Information

Additional Information:

For this assay, SNP(s) [rs116827275] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

histone modifying enzyme

Gene Ontology Categories:

Process(es)

chromatin remodeling
transcription, DNA-templated
heart development
positive regulation of myotube differentiation
histone lysine methylation
skeletal muscle cell differentiation
positive regulation of myoblast differentiation
negative regulation of transcription, DNA-templated

Function(s)

DNA binding
transcription corepressor activity
protein binding
histone-lysine N-methyltransferase activity
metal ion binding