Hs01615345_cn

• Gene Symbol: SIM1
• Assay Reference Genome Location: Chr.6:100389878 on build GRCh38
• Cytoband: 6q16.3

Target Gene Details

• Entrez Gene ID: 6492
• Gene Name: single-minded family bHLH transcription factor 1
• Gene Aliases: bHLHe14
• Location: Chr.6:100385009-100464929 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SIM1	NM_005068.2	11	2991	NP_005059.2
	XM_005267100.2	12	3567	XP_005267157.1
	XM_017011197.1	12	3299	XP_016866686.1
	U70212.1	11	3000	AAB62395.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1028122	Chr.6:100326369 - 100516471 on Build GRCh38	Gain	ASCC3 SIM1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

ureteric bud development
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
nervous system development
cell differentiation

Function(s)

RNA polymerase II transcription factor activity, sequence-specific DNA binding
DNA binding
transcription factor activity, sequence-specific DNA binding
protein heterodimerization activity