Hs01873750_cn

• Gene Symbol: MESP1
• Assay Reference Genome Location: Chr.15:89750132 on build GRCh38
• Cytoband: 15q26.1

Target Gene Details

• Entrez Gene ID: 55897
• Gene Name: mesoderm posterior bHLH transcription factor 1
• Gene Aliases: bHLHc5
• Location: Chr.15:89734772-89751309 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MESP1	NM_018670.3	2	897	NP_061140.1
	AL357533.1	2	450	CAB93425.1
	AL357534.1	2	428	CAB93426.1
	AL357535.1			CAB93427.1
	AL357570.1	2	344
	AL357571.1	2	717
	BC006219.1	2	905	AAH06219.1
	BP212916.1	2	467

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952025	Chr.15:89742870 - 89762169 on Build GRCh38	Deletion	WDR93 MESP1
nsv570388	Chr.15:89730911 - 89794962 on Build GRCh38	Loss	ANPEP WDR93 MESP2 MESP1
nsv1046117	Chr.15:89683716 - 89765410 on Build GRCh38	Gain	WDR93 PEX11A MESP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

heart looping
secondary heart field specification
embryonic heart tube morphogenesis
cardiac atrium formation
cardiac ventricle formation
sinus venosus morphogenesis
growth involved in heart morphogenesis
cardioblast anterior-lateral migration
transcription from RNA polymerase II promoter
Notch signaling pathway
gastrulation
mesodermal cell migration
neurogenesis
signal transduction involved in regulation of gene expression
positive regulation of Notch signaling pathway involved in heart induction
negative regulation of mesodermal cell fate specification
negative regulation of endodermal cell fate specification
endothelial cell differentiation
positive regulation of Notch signaling pathway
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
lateral mesoderm development
positive regulation of striated muscle cell differentiation
cardiac muscle cell differentiation
cardiac cell fate determination
sinoatrial node cell differentiation
cardiac vascular smooth muscle cell differentiation
cardioblast migration to the midline involved in heart field formation
positive regulation of hepatocyte differentiation
positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcription factor activity, sequence-specific DNA binding
enhancer binding
transcription regulatory region DNA binding
protein dimerization activity