Hs02068923_cn

• Gene Symbol: LOC100128006
• Assay Reference Genome Location: Chr.17:12763386 on build GRCh38
• Cytoband: 17p12

Target Gene Details

• Entrez Gene ID: 100128006
• Gene Name: uncharacterized LOC100128006
• Gene Aliases: -
• Location: Chr.17:12760134-12790284 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100128006	NR_104607.1	2	475
	BX649083.1	2	434
	DA231808.1	2	476

Target Gene Details

• Entrez Gene ID: 93649
• Gene Name: myocardin
• Gene Aliases: MYCD
• Location: Chr.17:12665890-12768949 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYOCD	NM_001146312.2	14	3002	NP_001139784.1
	NM_153604.3	13	2858	NP_705832.1
	XM_005256863.1	13	2873	XP_005256920.1
	XM_005256864.1	15	3046	XP_005256921.1
	XM_017025342.1	13	2876	XP_016880831.1
	AF532596.1	13	2559	AAN33040.1
	AK095846.1	1	164
	AK128608.1	14	1968
	AK292885.1	14	2871
	AY764180.1	14	2995	AAV33439.1
	BC126307.1	14	2761
	BC143391.1	14	2761
	BX640673.1	6	1689	CAE45805.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv34095	Chr.17:12436261 - 12841981 on Build GRCh38	Loss	MYOCD LOC100128006 LOC101928418 ARHGAP44 LINC00670

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA-binding transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
regulation of cell growth by extracellular stimulus
vasculogenesis
response to hypoxia
cardiac ventricle development
positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation
transcription from RNA polymerase II promoter
positive regulation of cell proliferation
negative regulation of cell proliferation
negative regulation of cardiac muscle cell apoptotic process
negative regulation of myotube differentiation
positive regulation of transforming growth factor beta receptor signaling pathway
cardiocyte differentiation
regulation of histone acetylation
hepatic stellate cell activation
vascular smooth muscle cell differentiation
positive regulation of DNA binding
cellular component maintenance
regulation of myoblast differentiation
negative regulation of cyclin-dependent protein serine/threonine kinase activity
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
positive regulation of smooth muscle contraction
lung alveolus development
digestive tract development
positive regulation of sequence-specific DNA binding transcription factor activity
smooth muscle cell differentiation
regulation of smooth muscle cell differentiation
positive regulation of smooth muscle cell differentiation
cardiac muscle cell differentiation
ventricular cardiac muscle cell differentiation
uterus development
urinary bladder development
cell growth involved in cardiac muscle cell development
cellular response to growth factor stimulus
cellular response to hypoxia
ductus arteriosus closure
negative regulation of beta-amyloid clearance
regulation of phenotypic switching
positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation
positive regulation of cardiac vascular smooth muscle cell differentiation
positive regulation of cardiac muscle cell differentiation
negative regulation of skeletal muscle cell differentiation

Function(s)

core promoter sequence-specific DNA binding
transcription factor activity, RNA polymerase II transcription factor binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II transcription coactivator activity
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
protein binding
transcription factor binding
histone acetyltransferase binding
histone deacetylase binding
R-SMAD binding