Hs03674317_cn

• Gene Symbol: MAF1
• Assay Reference Genome Location: Chr.8:144105198 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 Intron 2

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
	BE515145.1
	BM721318.1
	DN997000.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MROH1 HGH1 MAF1 SHARPIN CYC1 WDR97 MIR6847 EXOSC4 GPAA1
esv2759651	Chr.8:144076281 - 144230741 on Build GRCh38	Gain	MROH1 HGH1 MAF1 SHARPIN CYC1 WDR97 MIR6847 EXOSC4 GPAA1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	SMPD5 MROH1 MIR939 VPS28 CYHR1 WDR97 GPT TONSL TONSL-AS1 MIR6846 OPLAH KIFC2 DGAT1 PARP10 HGH1 CYC1 LRRC14 RECQL4 EXOSC4 SLC52A2 MIR1234 GPAA1 ADCK5 MIR6848 MIR7112 SCRT1 MFSD3 PLEC LOC101928953 GRINA LOC101928902 TMEM249 MIR6849 MIR661 BOP1 CPSF1 SLC39A4 MAF1 MIR6893 SHARPIN MIR6847 PPP1R16A SCX HSF1 FBXL6 FOXH1 SPATC1
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SMPD5 MROH1 WDR97 MIR6846 OPLAH HGH1 MAF1 SHARPIN CYC1 MIR6847 EXOSC4 GPAA1 SPATC1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	SMPD5 MROH1 MIR939 VPS28 CYHR1 WDR97 GPT TONSL TONSL-AS1 MIR6846 OPLAH KIFC2 DGAT1 PARP10 HGH1 CYC1 LRRC14 RECQL4 EXOSC4 SLC52A2 MIR1234 GPAA1 ADCK5 MIR6848 MIR7112 SCRT1 MFSD3 PLEC LOC101928953 GRINA LOC101928902 TMEM249 MIR6849 MIR661 BOP1 CPSF1 SLC39A4 MAF1 MIR6893 SHARPIN MIR6847 PPP1R16A SCX HSF1 FBXL6 FOXH1 SPATC1
nsv6448	Chr.8:144102165 - 144128264 on Build GRCh38	Insertion	MAF1 SHARPIN WDR97
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SMPD5 PLEC WDR97 GRINA MIR6846 OPLAH PARP10 MAF1 SHARPIN CYC1 MIR6847 EXOSC4 GPAA1 SPATC1
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SMPD5 MROH1 PLEC WDR97 GRINA MIR6846 OPLAH MIR661 PARP10 HGH1 EPPK1 MAF1 SHARPIN CYC1 MIR6847 EXOSC4 GPAA1 SPATC1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SMPD5 PLEC WDR97 GRINA MIR6846 OPLAH MIR661 PARP10 EPPK1 MAF1 SHARPIN CYC1 MIR6847 EXOSC4 GPAA1 SPATC1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SMPD5 PLEC WDR97 GRINA MIR6846 OPLAH MIR661 PARP10 MAF1 SHARPIN CYC1 MIR6847 EXOSC4 GPAA1 SPATC1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	SMPD5 MROH1 MIR939 VPS28 CYHR1 WDR97 C8orf82 GPT TONSL TONSL-AS1 MIR6846 OPLAH KIFC2 DGAT1 HGH1 CYC1 ZNF251 LRRC14 RECQL4 EXOSC4 SLC52A2 MIR1234 GPAA1 ADCK5 MIR6848 MIR7112 SCRT1 MFSD3 LOC101928953 LOC101928902 ARHGAP39 TMEM249 MIR6849 BOP1 CPSF1 LRRC24 SLC39A4 MAF1 MIR6893 SHARPIN MIR6847 PPP1R16A SCX HSF1 FBXL6 FOXH1 SPATC1
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SMPD5 MROH1 WDR97 MIR6846 OPLAH BOP1 HGH1 MAF1 SHARPIN CYC1 MIR6847 EXOSC4 SCX HSF1 GPAA1 MIR7112 SPATC1

More Information

• Set Membership: Intragenic, Intronic, 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