Hs02280708_cn

• Gene Symbol: MAF1
• Assay Reference Genome Location: Chr.8:144105896 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 3 - Exon 4

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
	DN997000.1

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

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