Hs00306490_cn

• Gene Symbol: MAF1
• Assay Reference Genome Location: Chr.8:144107607 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 84232
• Gene Name: MAF1 homolog, negative regulator of RNA polymerase III
• Gene Aliases: -
• Location: Chr.8:144104279-144107612 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAF1	NM_032272.4			NP_115648.2
	XM_017013903.1			XP_016869392.1
	XM_017013904.1			XP_016869393.1
	AL136937.1			CAB66871.1
	BC014082.2			AAH14082.1
	BC018714.1			AAH18714.1
	BC031273.1			AAH31273.1
	BF339064.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759651	Chr.8:144076281 - 144230741 on Build GRCh38	Gain	CYC1 HGH1 SHARPIN WDR97 GPAA1 MAF1 MROH1 EXOSC4 MIR6847
nsv824802	Chr.8:144105310 - 144229859 on Build GRCh38	Gain	HGH1 WDR97 MAF1 MROH1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	MFSD3 GRINA FOXH1 SLC39A4 HGH1 FBXL6 CYHR1 MAF1 ADCK5 MROH1 RECQL4 EXOSC4 MIR6848 OPLAH LRRC14 SLC52A2 MIR6846 TMEM249 SCRT1 LOC101928953 SMPD5 WDR97 MIR939 GPAA1 MIR661 GPT PARP10 CYC1 TONSL SHARPIN TONSL-AS1 CPSF1 SCX MIR7112 MIR6849 MIR1234 MIR6847 HSF1 KIFC2 DGAT1 BOP1 MIR6893 SPATC1 LOC101928902 PPP1R16A VPS28 PLEC
nsv6448	Chr.8:144102165 - 144128264 on Build GRCh38	Insertion	SHARPIN WDR97 MAF1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	GRINA PARP10 CYC1 SHARPIN MAF1 EXOSC4 MIR6847 OPLAH MIR6846 SMPD5 WDR97 SPATC1 GPAA1 PLEC
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	GRINA PARP10 CYC1 SHARPIN MAF1 EXOSC4 MIR6847 OPLAH EPPK1 MIR6846 SMPD5 WDR97 SPATC1 GPAA1 MIR661 PLEC
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	CYC1 HGH1 SHARPIN SCX MAF1 MROH1 MIR7112 EXOSC4 MIR6847 HSF1 OPLAH MIR6846 BOP1 SMPD5 WDR97 SPATC1 GPAA1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	CYC1 HGH1 SHARPIN WDR97 GPAA1 MAF1 MROH1 EXOSC4 MIR6847
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	CYC1 HGH1 SHARPIN MAF1 MROH1 EXOSC4 MIR6847 OPLAH MIR6846 SMPD5 WDR97 SPATC1 GPAA1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MFSD3 GRINA FOXH1 SLC39A4 HGH1 FBXL6 CYHR1 MAF1 ADCK5 MROH1 RECQL4 EXOSC4 MIR6848 OPLAH LRRC14 SLC52A2 MIR6846 TMEM249 SCRT1 LOC101928953 SMPD5 WDR97 MIR939 GPAA1 MIR661 GPT PARP10 CYC1 TONSL SHARPIN TONSL-AS1 CPSF1 SCX MIR7112 MIR6849 MIR1234 MIR6847 HSF1 KIFC2 DGAT1 BOP1 MIR6893 SPATC1 LOC101928902 PPP1R16A VPS28 PLEC
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	GRINA PARP10 CYC1 HGH1 SHARPIN MAF1 MROH1 EXOSC4 MIR6847 OPLAH EPPK1 MIR6846 SMPD5 WDR97 SPATC1 GPAA1 MIR661 PLEC
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	GRINA PARP10 CYC1 SHARPIN MAF1 EXOSC4 MIR6847 OPLAH MIR6846 SMPD5 WDR97 SPATC1 GPAA1 MIR661 PLEC
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MFSD3 FOXH1 SLC39A4 HGH1 FBXL6 CYHR1 MAF1 ADCK5 MROH1 RECQL4 EXOSC4 MIR6848 OPLAH ZNF251 LRRC14 SLC52A2 MIR6846 TMEM249 C8orf82 SCRT1 LOC101928953 SMPD5 WDR97 MIR939 GPAA1 GPT CYC1 TONSL SHARPIN TONSL-AS1 CPSF1 SCX MIR7112 MIR6849 MIR1234 MIR6847 HSF1 KIFC2 DGAT1 BOP1 LRRC24 MIR6893 SPATC1 LOC101928902 ARHGAP39 PPP1R16A VPS28

More Information

Additional Information:

For this assay, SNP(s) [rs529360644] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

general transcription factor

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
negative regulation of transcription from RNA polymerase III promoter
transcription factor TFIIIB complex assembly

Function(s)

RNA polymerase III core binding
RNA polymerase III type 1 promoter DNA binding
RNA polymerase III type 2 promoter DNA binding
RNA polymerase III type 3 promoter DNA binding
GABA receptor binding