Hs02388401_cn

• Gene Symbol: MAF1
• Assay Reference Genome Location: Chr.8:144107094 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 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAF1	NM_032272.4			NP_115648.2
	XM_017013903.1	7	1504	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
	BF339064.1
	BG757465.1
	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 MROH1 MAF1 EXOSC4 HGH1 MIR6847 CYC1 SHARPIN WDR97
nsv824802	Chr.8:144105310 - 144229859 on Build GRCh38	Gain	MROH1 MAF1 HGH1 WDR97
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	TONSL GPAA1 HSF1 VPS28 BOP1 LOC101928902 GRINA OPLAH MIR7112 PPP1R16A MIR1234 SLC39A4 CPSF1 SCX TONSL-AS1 KIFC2 MIR6847 SMPD5 CYC1 MIR661 LRRC14 MFSD3 TMEM249 SHARPIN MIR6849 DGAT1 SPATC1 MAF1 MIR939 EXOSC4 MIR6893 GPT LOC101928953 FBXL6 CYHR1 SLC52A2 SCRT1 MROH1 PARP10 ADCK5 PLEC MIR6846 HGH1 RECQL4 MIR6848 FOXH1 WDR97
nsv6448	Chr.8:144102165 - 144128264 on Build GRCh38	Insertion	MAF1 SHARPIN WDR97
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	GPAA1 MAF1 EXOSC4 GRINA OPLAH PARP10 PLEC MIR6846 MIR6847 SMPD5 CYC1 SHARPIN WDR97 SPATC1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	GPAA1 MAF1 EXOSC4 GRINA OPLAH EPPK1 PARP10 PLEC MIR6846 MIR6847 SMPD5 CYC1 MIR661 SHARPIN WDR97 SPATC1
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	GPAA1 HSF1 MAF1 EXOSC4 BOP1 OPLAH MIR7112 MROH1 SCX MIR6846 HGH1 MIR6847 SMPD5 CYC1 SHARPIN WDR97 SPATC1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	GPAA1 MROH1 MAF1 EXOSC4 HGH1 MIR6847 CYC1 SHARPIN WDR97
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	GPAA1 MAF1 EXOSC4 OPLAH MROH1 MIR6846 HGH1 MIR6847 SMPD5 CYC1 SHARPIN WDR97 SPATC1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	TONSL GPAA1 HSF1 VPS28 BOP1 LOC101928902 GRINA OPLAH MIR7112 PPP1R16A MIR1234 SLC39A4 CPSF1 SCX TONSL-AS1 KIFC2 MIR6847 SMPD5 CYC1 MIR661 LRRC14 MFSD3 TMEM249 SHARPIN MIR6849 DGAT1 SPATC1 MAF1 MIR939 EXOSC4 MIR6893 GPT LOC101928953 FBXL6 CYHR1 SLC52A2 SCRT1 MROH1 PARP10 ADCK5 PLEC MIR6846 HGH1 RECQL4 MIR6848 FOXH1 WDR97
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	GPAA1 MAF1 EXOSC4 GRINA OPLAH MROH1 EPPK1 PARP10 PLEC MIR6846 HGH1 MIR6847 SMPD5 CYC1 MIR661 SHARPIN WDR97 SPATC1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	GPAA1 MAF1 EXOSC4 GRINA OPLAH PARP10 PLEC MIR6846 MIR6847 SMPD5 CYC1 MIR661 SHARPIN WDR97 SPATC1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	TONSL GPAA1 HSF1 VPS28 BOP1 LOC101928902 OPLAH MIR7112 PPP1R16A MIR1234 SLC39A4 CPSF1 SCX TONSL-AS1 KIFC2 MIR6847 SMPD5 CYC1 LRRC14 MFSD3 TMEM249 SHARPIN MIR6849 DGAT1 SPATC1 MAF1 LRRC24 MIR939 ZNF251 EXOSC4 MIR6893 GPT LOC101928953 C8orf82 FBXL6 CYHR1 ARHGAP39 SLC52A2 SCRT1 MROH1 ADCK5 MIR6846 HGH1 RECQL4 MIR6848 FOXH1 WDR97

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