Hs03059589_cn

• Gene Symbol: NPHP3-ACAD11
• Assay Reference Genome Location: Chr.3:132677612 on build GRCh38
• Cytoband: 3q22.1

Target Gene Details

• Entrez Gene ID: 100532724
• Gene Name: NPHP3-ACAD11 readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.3:132558138-132722459 on Build GRCh38
• Assay Gene Location: Within Intron 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NPHP3-ACAD11	NR_037804.1
	AB082531.1			BAC02709.1
	AY257867.1			AAP83426.1

Target Gene Details

• Entrez Gene ID: 79876
• Gene Name: ubiquitin like modifier activating enzyme 5
• Gene Aliases: THIFP1, UBE1DC1
• Location: Chr.3:132654446-132679786 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBA5	NM_001320210.1	12	2492	NP_001307139.1
	NM_001321238.1	10	2356	NP_001308167.1
	NM_001321239.1	10	3206	NP_001308168.1
	NM_024818.4	12	3342	NP_079094.1
	NM_198329.3	12	2365	NP_938143.1
	AI681654.1
	AL832669.1	8	3728
	AY253672.1	12	2494	AAP79600.1
	BQ581736.1
	BU739244.1	1	184
	BX537742.1	1	257

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv591798	Chr.3:132626804 - 132975557 on Build GRCh38	Loss	UBA5 NPHP3-AS1 ACAD11 NPHP3-ACAD11 NPHP3
nsv591799	Chr.3:132662755 - 133080365 on Build GRCh38	Gain	UBA5 NPHP3-AS1 NPHP3-ACAD11 NPHP3 TMEM108
nsv998211	Chr.3:132605119 - 132988974 on Build GRCh38	Loss	UBA5 NPHP3-AS1 ACAD11 NPHP3-ACAD11 NPHP3
nsv4014	Chr.3:132668918 - 132704197 on Build GRCh38	Insertion	UBA5 NPHP3-ACAD11 NPHP3

More Information

Additional Information:

For this assay, SNP(s) [rs77695809] 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)

regulation of intracellular estrogen receptor signaling pathway
response to endoplasmic reticulum stress
cyclic threonylcarbamoyladenosine biosynthetic process
protein ufmylation
protein K69-linked ufmylation

Function(s)

protein binding
ATP binding
metal ion binding
tRNA threonylcarbamoyladenosine dehydratase
UFM1 activating enzyme activity