Hs06339558_cn

• Gene Symbol: GDF11
• Assay Reference Genome Location: Chr.12:55745201 on build GRCh38
• Cytoband: 12q13.2

Target Gene Details

• Entrez Gene ID: 10220
• Gene Name: growth differentiation factor 11
• Gene Aliases: BMP-11, BMP11
• Location: Chr.12:55743278-55757194 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GDF11	NM_005811.3			NP_005802.1
	XM_006719194.3			XP_006719257.1
	AF028333.1			AAF21630.1
	AF100907.1			AAC72852.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832423	Chr.12:55687038 - 55859914 on Build GRCh38	Gain	RDH5 BLOC1S1-RDH5 TMEM198B MMP19 BLOC1S1 ORMDL2 SARNP DNAJC14 GDF11 ITGA7 CD63
nsv1070113	Chr.12:55743115 - 55746216 on Build GRCh38	Deletion	GDF11
nsv952185	Chr.12:55743117 - 55746416 on Build GRCh38	Deletion	GDF11
nsv559004	Chr.12:55704254 - 55777109 on Build GRCh38	Loss	RDH5 BLOC1S1-RDH5 BLOC1S1 SARNP GDF11 ITGA7 CD63

More Information

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

Panther Classification:

Molecular Function -

growth factor

Gene Ontology Categories:

Process(es)

skeletal system development
metanephros development
ureteric bud development
nervous system development
mesoderm development
negative regulation of cell proliferation
positive regulation of pathway-restricted SMAD protein phosphorylation
spinal cord anterior/posterior patterning
pancreas development
growth
regulation of apoptotic process
regulation of MAPK cascade
negative regulation of neuron differentiation
cell development
cell maturation
camera-type eye morphogenesis
palate development
SMAD protein signal transduction

Function(s)

cytokine activity
transforming growth factor beta receptor binding
growth factor activity