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	MAF1 SHARPIN MIR6847 GPAA1 MROH1 HGH1 WDR97 EXOSC4 CYC1
nsv824802	Chr.8:144105310 - 144229859 on Build GRCh38	Gain	MAF1 MROH1 HGH1 WDR97
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	SLC52A2 FBXL6 PLEC TONSL-AS1 HGH1 MIR6849 MIR6893 ADCK5 LRRC14 DGAT1 MIR7112 BOP1 CYC1 SCRT1 LOC101928902 PARP10 CPSF1 SLC39A4 SCX WDR97 HSF1 SHARPIN SMPD5 MIR6848 TMEM249 MIR6847 CYHR1 GPAA1 RECQL4 GRINA PPP1R16A LOC101928953 OPLAH KIFC2 FOXH1 TONSL MIR1234 EXOSC4 MIR661 SPATC1 MIR6846 MAF1 GPT MFSD3 MROH1 VPS28 MIR939
nsv6448	Chr.8:144102165 - 144128264 on Build GRCh38	Insertion	MAF1 SHARPIN WDR97
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SHARPIN SMPD5 MIR6847 GPAA1 GRINA PLEC OPLAH EXOSC4 SPATC1 CYC1 MIR6846 MAF1 PARP10 WDR97
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SHARPIN SMPD5 MIR6847 GPAA1 GRINA PLEC OPLAH EXOSC4 MIR661 SPATC1 CYC1 MIR6846 MAF1 EPPK1 PARP10 WDR97
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SHARPIN SMPD5 MIR6847 GPAA1 OPLAH HGH1 EXOSC4 MIR7112 SPATC1 BOP1 CYC1 MIR6846 MAF1 MROH1 SCX WDR97 HSF1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MAF1 SHARPIN MIR6847 GPAA1 MROH1 HGH1 WDR97 EXOSC4 CYC1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SHARPIN SMPD5 MIR6847 GPAA1 OPLAH HGH1 EXOSC4 SPATC1 CYC1 MIR6846 MAF1 MROH1 WDR97
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	SLC52A2 FBXL6 PLEC TONSL-AS1 HGH1 MIR6849 MIR6893 ADCK5 LRRC14 DGAT1 MIR7112 BOP1 CYC1 SCRT1 LOC101928902 PARP10 CPSF1 SLC39A4 SCX WDR97 HSF1 SHARPIN SMPD5 MIR6848 TMEM249 MIR6847 CYHR1 GPAA1 RECQL4 GRINA PPP1R16A LOC101928953 OPLAH KIFC2 FOXH1 TONSL MIR1234 EXOSC4 MIR661 SPATC1 MIR6846 MAF1 GPT MFSD3 MROH1 VPS28 MIR939
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SHARPIN SMPD5 MIR6847 GPAA1 GRINA PLEC OPLAH HGH1 EXOSC4 MIR661 SPATC1 CYC1 MIR6846 MAF1 EPPK1 MROH1 PARP10 WDR97
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	SLC52A2 FBXL6 TONSL-AS1 HGH1 MIR6849 MIR6893 ADCK5 LRRC14 DGAT1 MIR7112 BOP1 CYC1 SCRT1 LOC101928902 CPSF1 SLC39A4 SCX WDR97 HSF1 SHARPIN SMPD5 MIR6848 TMEM249 MIR6847 C8orf82 CYHR1 GPAA1 ZNF251 ARHGAP39 RECQL4 PPP1R16A LOC101928953 OPLAH KIFC2 FOXH1 TONSL MIR1234 EXOSC4 SPATC1 MIR6846 MAF1 GPT LRRC24 MFSD3 MROH1 VPS28 MIR939
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SHARPIN SMPD5 MIR6847 GPAA1 GRINA PLEC OPLAH EXOSC4 MIR661 SPATC1 CYC1 MIR6846 MAF1 PARP10 WDR97

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