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

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