Hs02248161_cn

• Gene Symbol: SRF
• Assay Reference Genome Location: Chr.6:43178863 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 6722
• Gene Name: serum response factor
• Gene Aliases: MCM1
• Location: Chr.6:43171295-43181506 on Build GRCh38
• Assay Gene Location: Overlaps Exon 7 - Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SRF	NM_001292001.1			NP_001278930.1
	NM_003131.3			NP_003122.1
	AB209128.1			BAD92365.1
	AK300467.1
	BC048211.1			AAH48211.1
	BC052572.1			AAH52572.1
	J03161.1			AAA36647.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1017398	Chr.6:42659705 - 43400998 on Build GRCh38	Gain	RPL7L1 PEX6 PPP2R5D ATP6V0CP3 TBCC SRF UBR2 ZNF318 PTK7 CRIP3 LOC401261 PTCRA CUL7 KLHDC3 DNPH1 CNPY3-GNMT MEA1 GLTSCR1L PRPH2 RRP36 CUL9 C6orf226 MRPL2 GNMT TTBK1 KLC4 SLC22A7 CNPY3
nsv521730	Chr.6:43121691 - 43216394 on Build GRCh38	Loss	CUL9 SRF PTK7

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

patterning of blood vessels
response to hypoxia
mesoderm formation
neuron migration
trophectodermal cell differentiation
heart looping
morphogenesis of an epithelial sheet
cell migration involved in sprouting angiogenesis
positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation
transcription from RNA polymerase II promoter
cell-matrix adhesion
heart development
long-term memory
negative regulation of cell proliferation
associative learning
response to toxic substance
response to hormone
epithelial structure maintenance
positive regulation of transcription via serum response element binding
hippocampus development
tangential migration from the subventricular zone to the olfactory bulb
regulation of cell adhesion
platelet activation
platelet formation
negative regulation of cell migration
thyroid gland development
neuron projection development
regulation of water loss via skin
response to cytokine
megakaryocyte development
dorsal aorta morphogenesis
mRNA transcription from RNA polymerase II promoter
stress fiber assembly
skin morphogenesis
positive thymic T cell selection
sarcomere organization
positive regulation of cell differentiation
positive regulation of axon extension
positive regulation of transcription from RNA polymerase II promoter
positive regulation of smooth muscle contraction
positive regulation of transcription by glucose
muscle cell cellular homeostasis
thymus development
developmental growth
neuron development
erythrocyte development
positive regulation of sequence-specific DNA binding transcription factor activity
regulation of smooth muscle cell differentiation
positive regulation of filopodium assembly
cardiac myofibril assembly
angiogenesis involved in wound healing
hematopoietic stem cell differentiation
positive regulation of transcription initiation from RNA polymerase II promoter
long term synaptic depression
face development
heart trabecula formation
lung morphogenesis
bronchus cartilage development
trachea cartilage development
cardiac vascular smooth muscle cell differentiation
eyelid development in camera-type eye
lung smooth muscle development
bicellular tight junction assembly
cellular response to glucose stimulus
primitive streak formation
epithelial cell-cell adhesion
cellular senescence
negative regulation of beta-amyloid clearance
negative regulation of pri-miRNA transcription from RNA polymerase II promoter
positive regulation of pri-miRNA transcription from RNA polymerase II promoter

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcription factor activity, RNA polymerase II core promoter sequence-specific
transcription factor activity, RNA polymerase II transcription factor binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
protein binding
transcription factor binding
serum response element binding
chromatin DNA binding
protein homodimerization activity
histone deacetylase binding
primary miRNA binding