Hs01600872_cn

• Gene Symbol: MAF1
• Assay Reference Genome Location: Chr.8:144106091 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 Intron 4 - Exon 5

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
	BE093055.1
	BE515145.1
	BG757465.1
	BM721318.1
	CR533463.1			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	WDR97 HGH1 CYC1 GPAA1 MAF1 SHARPIN EXOSC4 MROH1 MIR6847
nsv824802	Chr.8:144105310 - 144229859 on Build GRCh38	Gain	WDR97 HGH1 MAF1 MROH1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	HSF1 HGH1 VPS28 LOC101928902 FBXL6 MIR6893 GRINA RECQL4 OPLAH SPATC1 MFSD3 MIR6847 SLC52A2 MIR1234 MIR7112 CYHR1 BOP1 GPAA1 MIR6849 SHARPIN PPP1R16A WDR97 LRRC14 MIR661 LOC101928953 TONSL KIFC2 SCX TONSL-AS1 DGAT1 ADCK5 CPSF1 GPT FOXH1 TMEM249 PARP10 SLC39A4 SCRT1 SMPD5 CYC1 MAF1 MIR939 MIR6846 EXOSC4 PLEC MROH1 MIR6848
nsv6448	Chr.8:144102165 - 144128264 on Build GRCh38	Insertion	WDR97 MAF1 SHARPIN
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	WDR97 GRINA OPLAH SPATC1 MIR6847 PARP10 SMPD5 CYC1 GPAA1 MAF1 MIR6846 SHARPIN EXOSC4 PLEC
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	WDR97 MIR661 GRINA OPLAH SPATC1 MIR6847 PARP10 EPPK1 SMPD5 CYC1 GPAA1 MAF1 MIR6846 SHARPIN EXOSC4 PLEC
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	WDR97 HSF1 HGH1 SCX OPLAH SPATC1 MIR6847 MIR7112 BOP1 SMPD5 CYC1 GPAA1 MAF1 MIR6846 SHARPIN EXOSC4 MROH1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	WDR97 HGH1 CYC1 GPAA1 MAF1 SHARPIN EXOSC4 MROH1 MIR6847
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	WDR97 HGH1 OPLAH SPATC1 MIR6847 SMPD5 CYC1 GPAA1 MAF1 MIR6846 SHARPIN EXOSC4 MROH1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	HSF1 HGH1 VPS28 LOC101928902 FBXL6 MIR6893 GRINA RECQL4 OPLAH SPATC1 MFSD3 MIR6847 SLC52A2 MIR1234 MIR7112 CYHR1 BOP1 GPAA1 MIR6849 SHARPIN PPP1R16A WDR97 LRRC14 MIR661 LOC101928953 TONSL KIFC2 SCX TONSL-AS1 DGAT1 ADCK5 CPSF1 GPT FOXH1 TMEM249 PARP10 SLC39A4 SCRT1 SMPD5 CYC1 MAF1 MIR939 MIR6846 EXOSC4 PLEC MROH1 MIR6848
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	WDR97 MIR661 HGH1 GRINA OPLAH SPATC1 MIR6847 PARP10 EPPK1 SMPD5 CYC1 GPAA1 MAF1 MIR6846 SHARPIN EXOSC4 PLEC MROH1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	WDR97 MIR661 GRINA OPLAH SPATC1 MIR6847 PARP10 SMPD5 CYC1 GPAA1 MAF1 MIR6846 SHARPIN EXOSC4 PLEC
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	HSF1 HGH1 VPS28 LOC101928902 FBXL6 MIR6893 RECQL4 OPLAH SPATC1 MFSD3 MIR6847 SLC52A2 ARHGAP39 MIR1234 MIR7112 CYHR1 BOP1 LRRC24 GPAA1 MIR6849 SHARPIN PPP1R16A WDR97 LRRC14 LOC101928953 TONSL KIFC2 SCX TONSL-AS1 DGAT1 C8orf82 ADCK5 CPSF1 ZNF251 GPT FOXH1 TMEM249 SLC39A4 SCRT1 SMPD5 CYC1 MAF1 MIR939 MIR6846 EXOSC4 MROH1 MIR6848

More Information

• 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