Hs02593819_cn

• Gene Symbol: MAF1
• Assay Reference Genome Location: Chr.8:144106424 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAF1	NM_032272.4	5	961	NP_115648.2
	XM_017013903.1	5	1084	XP_016869392.1
	XM_017013904.1	5	670	XP_016869393.1
	AL136937.1	5	852	CAB66871.1
	BC014082.2	5	853	AAH14082.1
	BC018714.1	5	860	AAH18714.1
	BC031273.1	5	863	AAH31273.1
	BE093055.1	4	422
	BE515145.1
	BG757465.1	3	393
	CR533463.1	4	460	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	HGH1 CYC1 MIR6847 SHARPIN GPAA1 MROH1 EXOSC4 MAF1 WDR97
nsv824802	Chr.8:144105310 - 144229859 on Build GRCh38	Gain	HGH1 MROH1 MAF1 WDR97
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	HGH1 KIFC2 LOC101928902 DGAT1 RECQL4 MIR6846 EXOSC4 MIR1234 PLEC LOC101928953 WDR97 MFSD3 MIR661 MIR7112 GPAA1 GPT TONSL CYHR1 SLC39A4 TMEM249 PARP10 SPATC1 SMPD5 PPP1R16A HSF1 GRINA MIR6848 CYC1 MIR6847 MIR6893 SHARPIN CPSF1 ADCK5 SCRT1 MAF1 OPLAH BOP1 LRRC14 MIR939 VPS28 SLC52A2 MROH1 TONSL-AS1 FOXH1 SCX FBXL6 MIR6849
nsv6448	Chr.8:144102165 - 144128264 on Build GRCh38	Insertion	SHARPIN MAF1 WDR97
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	CYC1 MIR6847 SHARPIN MIR6846 EXOSC4 PLEC MAF1 OPLAH WDR97 GPAA1 PARP10 SPATC1 SMPD5 GRINA
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	EPPK1 CYC1 MIR6847 SHARPIN MIR6846 EXOSC4 PLEC MAF1 OPLAH WDR97 MIR661 GPAA1 PARP10 SPATC1 SMPD5 GRINA
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	HGH1 CYC1 MIR6847 SHARPIN MIR6846 EXOSC4 MAF1 OPLAH BOP1 WDR97 MIR7112 GPAA1 MROH1 SCX SPATC1 SMPD5 HSF1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	HGH1 CYC1 MIR6847 SHARPIN GPAA1 MROH1 EXOSC4 MAF1 WDR97
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	HGH1 CYC1 MIR6847 SHARPIN MIR6846 EXOSC4 MAF1 OPLAH WDR97 GPAA1 MROH1 SPATC1 SMPD5
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	HGH1 KIFC2 LOC101928902 DGAT1 RECQL4 MIR6846 EXOSC4 MIR1234 PLEC LOC101928953 WDR97 MFSD3 MIR661 MIR7112 GPAA1 GPT TONSL CYHR1 SLC39A4 TMEM249 PARP10 SPATC1 SMPD5 PPP1R16A HSF1 GRINA MIR6848 CYC1 MIR6847 MIR6893 SHARPIN CPSF1 ADCK5 SCRT1 MAF1 OPLAH BOP1 LRRC14 MIR939 VPS28 SLC52A2 MROH1 TONSL-AS1 FOXH1 SCX FBXL6 MIR6849
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	HGH1 EPPK1 CYC1 MIR6847 SHARPIN MIR6846 EXOSC4 PLEC MAF1 OPLAH WDR97 MIR661 GPAA1 MROH1 PARP10 SPATC1 SMPD5 GRINA
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	CYC1 MIR6847 SHARPIN MIR6846 EXOSC4 PLEC MAF1 OPLAH WDR97 MIR661 GPAA1 PARP10 SPATC1 SMPD5 GRINA
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	HGH1 KIFC2 LOC101928902 DGAT1 RECQL4 MIR6846 EXOSC4 MIR1234 ARHGAP39 LOC101928953 WDR97 LRRC24 MFSD3 MIR7112 GPAA1 GPT TONSL CYHR1 SLC39A4 TMEM249 ZNF251 SPATC1 SMPD5 PPP1R16A HSF1 MIR6848 CYC1 MIR6847 MIR6893 SHARPIN CPSF1 ADCK5 SCRT1 MAF1 OPLAH BOP1 LRRC14 C8orf82 MIR939 VPS28 SLC52A2 MROH1 TONSL-AS1 FOXH1 SCX FBXL6 MIR6849

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