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

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