Hs01113420_cn

• Gene Symbol: MAF1
• Assay Reference Genome Location: Chr.8:144106633 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: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAF1	NM_032272.4	6	1080	NP_115648.2
	XM_017013903.1	6	1203	XP_016869392.1
	XM_017013904.1	6	789	XP_016869393.1
	AL136937.1	6	971	CAB66871.1
	BC014082.2	6	972	AAH14082.1
	BC018714.1	6	979	AAH18714.1
	BC031273.1	6	982	AAH31273.1
	BF339064.1
	BG757465.1	4	512
	CR533463.1	5	579	CAG38494.1

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

More Information

• Set Membership: Intragenic, 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