Hs01138046_cn

• Gene Symbol: LOC101927550
• Assay Reference Genome Location: Chr.7:99028418 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 101927550
• Gene Name: uncharacterized LOC101927550
• Gene Aliases: -
• Location: Chr.7:99013165-99036492 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101927550	NR_110102.1
	AK001533.1

Target Gene Details

• Entrez Gene ID: 57154
• Gene Name: SMAD specific E3 ubiquitin protein ligase 1
• Gene Aliases: -
• Location: Chr.7:99027435-99144120 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMURF1	NM_001199847.1	18	4693	NP_001186776.1
	NM_020429.2	19	4780	NP_065162.1
	NM_181349.2	18	4702	NP_851994.1
	XM_017012457.1	19	4769	XP_016867946.1
	AB046845.1	19	4748
	AK057024.1	1	1653
	AK126471.1	1	2646
	AL834242.1	7	3054	CAD38919.1
	AY007164.1	1	678
	BC152468.1	19	4748

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3614267	Chr.7:99027640 - 99036461 on Build GRCh38	Gain	SMURF1 LOC101927550

More Information

Additional Information:

For this assay, SNP(s) [rs74457716] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

protein polyubiquitination
positive regulation of defense response to virus by host
protein export from nucleus
transforming growth factor beta receptor signaling pathway
ectoderm development
protein ubiquitination
cell differentiation
negative regulation of ossification
BMP signaling pathway
negative regulation of transforming growth factor beta receptor signaling pathway
negative regulation of BMP signaling pathway
ubiquitin-dependent SMAD protein catabolic process
receptor catabolic process
protein localization to cell surface
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
proteasome-mediated ubiquitin-dependent protein catabolic process
Wnt signaling pathway, planar cell polarity pathway
engulfment of target by autophagosome
protein targeting to vacuole involved in autophagy
protein targeting to plasma membrane
mitophagy in response to mitochondrial depolarization
positive regulation of dendrite extension
positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process

Function(s)

ubiquitin-protein transferase activity
protein binding
phospholipid binding
ligase activity
activin binding
ubiquitin protein ligase activity
I-SMAD binding
R-SMAD binding