Hs01982402_cn

• Gene Symbol: CHFR
• Assay Reference Genome Location: Chr.12:132857480 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 55743
• Gene Name: checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
• Gene Aliases: RNF116, RNF196
• Location: Chr.12:132840352-132887618 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHFR	NM_001161344.1	9	1111	NP_001154816.1
	NM_001161345.1	9	1111	NP_001154817.1
	NM_001161346.1	9	1075	NP_001154818.1
	NM_001161347.1	7	835	NP_001154819.1
	NM_018223.2	9	988	NP_060693.2
	AF170724.1	9	1117	AAF91084.1
	AK001658.1	9	968	BAA91817.1
	AK027687.1	9	1069	BAB55297.1
	AK097671.1	7	766
	AK302785.1	7	820
	AK304333.1	9	1098
	BC012072.1	8	999	AAH12072.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1589n100	Chr.12:132841203 - 132967843 on Build GRCh38	Gain	CHFR ZNF605 LOC101928530
nsv561133	Chr.12:132782284 - 132860654 on Build GRCh38	Loss	GOLGA3 CHFR
nsv561134	Chr.12:132813412 - 132886923 on Build GRCh38	Loss	GOLGA3 CHFR

More Information

Additional Information:

For this assay, SNP(s) [rs535313174] 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, DGV Variation

Panther Classification:

Molecular Function -

ubiquitin-protein ligase, protein modifying enzyme

Gene Ontology Categories:

Process(es)

protein polyubiquitination
ubiquitin-dependent protein catabolic process
mitotic nuclear division
mitotic cell cycle checkpoint
modification-dependent protein catabolic process
positive regulation of protein ubiquitination
protein destabilization
positive regulation of proteasomal ubiquitin-dependent protein catabolic process
cell division

Function(s)

nucleotide binding
ubiquitin-protein transferase activity
protein binding
zinc ion binding
ligase activity
ubiquitin protein ligase activity