Hs02493947_cn

• Gene Symbol: TGFB1
• Assay Reference Genome Location: Chr.19:41353619 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 7040
• Gene Name: transforming growth factor beta 1
• Gene Aliases: CED, DPD1, LAP, TGFB, TGFbeta
• Location: Chr.19:41330531-41353933 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TGFB1	NM_000660.5	1	315	NP_000651.3
	XM_011527242.1	1	308	XP_011525544.1
	AK307742.1
	BG115704.1	1	315
	DA935180.1	1	308
	X02812.1	1	265	CAA26580.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521311	Chr.19:41350981 - 41376807 on Build GRCh38	Gain	B9D2 TMEM91 TGFB1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

growth factor

Gene Ontology Categories:

Process(es)

protein import into nucleus, translocation
negative regulation of transcription from RNA polymerase II promoter
MAPK cascade
ureteric bud development
response to hypoxia
epithelial to mesenchymal transition
negative regulation of protein phosphorylation
positive regulation of protein phosphorylation
regulation of sodium ion transport
chondrocyte differentiation
hematopoietic progenitor cell differentiation
connective tissue replacement involved in inflammatory response wound healing
adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains
tolerance induction to self antigen
platelet degranulation
protein phosphorylation
protein export from nucleus
ATP biosynthetic process
phosphate-containing compound metabolic process
cellular calcium ion homeostasis
inflammatory response
cell cycle arrest
mitotic cell cycle checkpoint
epidermal growth factor receptor signaling pathway
transforming growth factor beta receptor signaling pathway
common-partner SMAD protein phosphorylation
SMAD protein complex assembly
SMAD protein import into nucleus
Notch signaling pathway
negative regulation of neuroblast proliferation
salivary gland morphogenesis
endoderm development
female pregnancy
aging
negative regulation of DNA replication
positive regulation of cell proliferation
negative regulation of cell proliferation
germ cell migration
response to radiation
response to wounding
response to glucose
defense response to fungus, incompatible interaction
positive regulation of vascular endothelial growth factor production
positive regulation of gene expression
negative regulation of gene expression
negative regulation of extracellular matrix disassembly
positive regulation of epithelial to mesenchymal transition
macrophage derived foam cell differentiation
positive regulation of fibroblast migration
positive regulation of peptidyl-threonine phosphorylation
positive regulation of pathway-restricted SMAD protein phosphorylation
negative regulation of macrophage cytokine production
oligodendrocyte development
cell growth
regulation of striated muscle tissue development
cell migration
regulation of transforming growth factor beta receptor signaling pathway
evasion or tolerance of host defenses by virus
negative regulation of cell-cell adhesion
hyaluronan catabolic process
negative regulation of ossification
negative regulation of cell growth
regulation of cell migration
positive regulation of cell migration
positive regulation of bone mineralization
negative regulation of transforming growth factor beta receptor signaling pathway
positive regulation of histone deacetylation
organ regeneration
positive regulation of protein complex assembly
positive regulation of exit from mitosis
lipopolysaccharide-mediated signaling pathway
positive regulation of cellular protein metabolic process
response to estradiol
response to progesterone
regulation of interleukin-23 production
negative regulation of interleukin-17 production
positive regulation of interleukin-17 production
receptor catabolic process
positive regulation of superoxide anion generation
mononuclear cell proliferation
positive regulation of collagen biosynthetic process
positive regulation of peptidyl-serine phosphorylation
response to vitamin D
response to laminar fluid shear stress
positive regulation of histone acetylation
positive regulation of protein dephosphorylation
negative regulation of T cell proliferation
regulation of protein import into nucleus
positive regulation of protein import into nucleus
positive regulation of odontogenesis
response to drug
myelination
regulation of apoptotic process
myeloid dendritic cell differentiation
T cell homeostasis
positive regulation of apoptotic process
positive regulation of vascular permeability
positive regulation of MAP kinase activity
protein kinase B signaling
positive regulation of blood vessel endothelial cell migration
negative regulation of blood vessel endothelial cell migration
positive regulation of phosphatidylinositol 3-kinase activity
ossification involved in bone remodeling
regulatory T cell differentiation
cell-cell junction organization
positive regulation of regulatory T cell differentiation
negative regulation of cell differentiation
negative regulation of fat cell differentiation
negative regulation of myoblast differentiation
negative regulation of cell cycle
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
negative regulation of mitotic cell cycle
positive regulation of transcription from RNA polymerase II promoter
active induction of host immune response by virus
positive regulation of fibroblast proliferation
positive regulation of isotype switching to IgA isotypes
lymph node development
digestive tract development
negative regulation of skeletal muscle tissue development
inner ear development
positive regulation of epithelial cell proliferation
negative regulation of epithelial cell proliferation
positive regulation of protein secretion
positive regulation of peptidyl-tyrosine phosphorylation
negative regulation of phagocytosis
positive regulation of chemotaxis
positive regulation of NF-kappaB transcription factor activity
regulation of binding
regulation of DNA binding
positive regulation of smooth muscle cell differentiation
negative regulation of release of sequestered calcium ion into cytosol
positive regulation of cell division
positive regulation of protein kinase B signaling
regulation of blood vessel remodeling
face morphogenesis
frontal suture morphogenesis
pathway-restricted SMAD protein phosphorylation
regulation of SMAD protein import into nucleus
positive regulation of SMAD protein import into nucleus
SMAD protein signal transduction
mammary gland branching involved in thelarche
branch elongation involved in mammary gland duct branching
regulation of branching involved in mammary gland duct morphogenesis
negative regulation of gene silencing by miRNA
regulation of cartilage development
lens fiber cell differentiation
response to cholesterol
positive regulation of cell cycle arrest
cellular response to organic cyclic compound
cellular response to dexamethasone stimulus
cellular response to transforming growth factor beta stimulus
extracellular matrix assembly
positive regulation of branching involved in ureteric bud morphogenesis
extrinsic apoptotic signaling pathway
negative regulation of hyaluronan biosynthetic process
positive regulation of extracellular matrix assembly
positive regulation of NAD+ ADP-ribosyltransferase activity
positive regulation of pri-miRNA transcription from RNA polymerase II promoter
negative regulation of protein localization to plasma membrane
negative regulation of production of miRNAs involved in gene silencing by miRNA
positive regulation of receptor clustering
regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
regulation of actin cytoskeleton reorganization
positive regulation of transcription regulatory region DNA binding
positive regulation of cardiac muscle cell differentiation

Function(s)

glycoprotein binding
antigen binding
type II transforming growth factor beta receptor binding
cytokine activity
transforming growth factor beta receptor binding
protein binding
growth factor activity
enzyme binding
type I transforming growth factor beta receptor binding
type III transforming growth factor beta receptor binding
protein homodimerization activity
protein serine/threonine kinase activator activity
protein heterodimerization activity
protein N-terminus binding