Hs02738029_cn

• Gene Symbol: MAF1
• Assay Reference Genome Location: Chr.8:144106245 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 Exon 5 - Intron 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
	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 SHARPIN CYC1 EXOSC4 MROH1 GPAA1 HGH1 MAF1 MIR6847
nsv824802	Chr.8:144105310 - 144229859 on Build GRCh38	Gain	WDR97 MROH1 HGH1 MAF1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	CPSF1 CYHR1 HSF1 LRRC14 MIR939 CYC1 TONSL BOP1 DGAT1 MIR6846 MROH1 MIR6893 MIR661 SLC52A2 GRINA LOC101928953 LOC101928902 GPT FBXL6 ADCK5 WDR97 PLEC SCRT1 TONSL-AS1 GPAA1 HGH1 MAF1 MIR1234 PPP1R16A SCX SPATC1 OPLAH MIR7112 SHARPIN KIFC2 VPS28 TMEM249 SMPD5 MIR6848 MIR6849 SLC39A4 EXOSC4 MFSD3 FOXH1 RECQL4 MIR6847 PARP10
nsv6448	Chr.8:144102165 - 144128264 on Build GRCh38	Insertion	WDR97 SHARPIN MAF1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SPATC1 OPLAH SHARPIN CYC1 MIR6846 SMPD5 GRINA WDR97 PLEC EXOSC4 GPAA1 MAF1 MIR6847 PARP10
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SPATC1 OPLAH SHARPIN CYC1 MIR6846 SMPD5 MIR661 GRINA WDR97 PLEC EXOSC4 EPPK1 GPAA1 MAF1 MIR6847 PARP10
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SPATC1 HSF1 OPLAH MIR7112 SHARPIN CYC1 BOP1 MIR6846 SMPD5 MROH1 WDR97 EXOSC4 GPAA1 HGH1 MAF1 SCX MIR6847
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	WDR97 SHARPIN CYC1 EXOSC4 MROH1 GPAA1 HGH1 MAF1 MIR6847
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SPATC1 OPLAH SHARPIN CYC1 MIR6846 SMPD5 MROH1 WDR97 EXOSC4 GPAA1 HGH1 MAF1 MIR6847
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	CPSF1 CYHR1 HSF1 LRRC14 MIR939 CYC1 TONSL BOP1 DGAT1 MIR6846 MROH1 MIR6893 MIR661 SLC52A2 GRINA LOC101928953 LOC101928902 GPT FBXL6 ADCK5 WDR97 PLEC SCRT1 TONSL-AS1 GPAA1 HGH1 MAF1 MIR1234 PPP1R16A SCX SPATC1 OPLAH MIR7112 SHARPIN KIFC2 VPS28 TMEM249 SMPD5 MIR6848 MIR6849 SLC39A4 EXOSC4 MFSD3 FOXH1 RECQL4 MIR6847 PARP10
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SPATC1 OPLAH SHARPIN CYC1 MIR6846 SMPD5 MROH1 MIR661 GRINA WDR97 PLEC EXOSC4 EPPK1 GPAA1 HGH1 MAF1 MIR6847 PARP10
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SPATC1 OPLAH SHARPIN CYC1 MIR6846 SMPD5 MIR661 GRINA WDR97 PLEC EXOSC4 GPAA1 MAF1 MIR6847 PARP10
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	CPSF1 CYHR1 HSF1 LRRC14 MIR939 CYC1 TONSL BOP1 DGAT1 MIR6846 MROH1 MIR6893 SLC52A2 LOC101928953 LOC101928902 ZNF251 GPT FBXL6 ADCK5 WDR97 SCRT1 TONSL-AS1 GPAA1 HGH1 C8orf82 MAF1 MIR1234 PPP1R16A SCX ARHGAP39 SPATC1 LRRC24 OPLAH MIR7112 SHARPIN KIFC2 VPS28 TMEM249 SMPD5 MIR6848 MIR6849 SLC39A4 EXOSC4 MFSD3 FOXH1 RECQL4 MIR6847

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