Hs03074046_cn

• Gene Symbol: MAF1
• Assay Reference Genome Location: Chr.8:144107289 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	8	1452	NP_115648.2
	XM_017013903.1	7	1699	XP_016869392.1
	XM_017013904.1	8	1161	XP_016869393.1
	AL136937.1	8	1343	CAB66871.1
	BC014082.2	8	1344	AAH14082.1
	BC018714.1	8	1351	AAH18714.1
	BC031273.1	8	1354	AAH31273.1
	BF339064.1	3	365

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	MAF1 HGH1 SHARPIN MROH1 WDR97 EXOSC4 MIR6847 GPAA1 CYC1
nsv824802	Chr.8:144105310 - 144229859 on Build GRCh38	Gain	MAF1 HGH1 MROH1 WDR97
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	VPS28 ADCK5 MIR6849 MIR1234 DGAT1 LRRC14 MFSD3 SCX PPP1R16A WDR97 SLC39A4 MIR6893 HSF1 MIR7112 LOC101928902 GRINA SCRT1 MROH1 FBXL6 EXOSC4 LOC101928953 KIFC2 TONSL SPATC1 SMPD5 RECQL4 CPSF1 MIR661 PLEC MIR939 MIR6848 PARP10 OPLAH GPAA1 CYC1 MAF1 CYHR1 GPT HGH1 SHARPIN FOXH1 MIR6846 TONSL-AS1 MIR6847 SLC52A2 BOP1 TMEM249
nsv6448	Chr.8:144102165 - 144128264 on Build GRCh38	Insertion	MAF1 SHARPIN WDR97
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SPATC1 SMPD5 PLEC WDR97 PARP10 OPLAH GPAA1 CYC1 MAF1 SHARPIN GRINA MIR6846 EXOSC4 MIR6847
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SPATC1 SMPD5 MIR661 PLEC WDR97 PARP10 OPLAH GPAA1 CYC1 MAF1 EPPK1 SHARPIN GRINA MIR6846 EXOSC4 MIR6847
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SPATC1 SMPD5 SCX WDR97 OPLAH GPAA1 CYC1 HSF1 MAF1 MIR7112 HGH1 SHARPIN MIR6846 MROH1 EXOSC4 MIR6847 BOP1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MAF1 HGH1 SHARPIN MROH1 WDR97 EXOSC4 MIR6847 GPAA1 CYC1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SPATC1 SMPD5 WDR97 OPLAH GPAA1 CYC1 MAF1 HGH1 SHARPIN MIR6846 MROH1 EXOSC4 MIR6847
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	VPS28 ADCK5 MIR6849 MIR1234 DGAT1 LRRC14 MFSD3 SCX PPP1R16A WDR97 SLC39A4 MIR6893 HSF1 MIR7112 LOC101928902 GRINA SCRT1 MROH1 FBXL6 EXOSC4 LOC101928953 KIFC2 TONSL SPATC1 SMPD5 RECQL4 CPSF1 MIR661 PLEC MIR939 MIR6848 PARP10 OPLAH GPAA1 CYC1 MAF1 CYHR1 GPT HGH1 SHARPIN FOXH1 MIR6846 TONSL-AS1 MIR6847 SLC52A2 BOP1 TMEM249
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SPATC1 SMPD5 MIR661 PLEC WDR97 PARP10 OPLAH GPAA1 CYC1 MAF1 HGH1 EPPK1 SHARPIN GRINA MIR6846 MROH1 EXOSC4 MIR6847
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	VPS28 ADCK5 MIR6849 MIR1234 DGAT1 LRRC14 MFSD3 SCX PPP1R16A C8orf82 WDR97 SLC39A4 MIR6893 HSF1 MIR7112 LOC101928902 SCRT1 MROH1 FBXL6 EXOSC4 LOC101928953 KIFC2 TONSL SPATC1 SMPD5 LRRC24 RECQL4 CPSF1 MIR939 MIR6848 OPLAH GPAA1 CYC1 MAF1 CYHR1 GPT HGH1 SHARPIN ARHGAP39 FOXH1 MIR6846 TONSL-AS1 MIR6847 ZNF251 SLC52A2 BOP1 TMEM249
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SPATC1 SMPD5 MIR661 PLEC WDR97 PARP10 OPLAH GPAA1 CYC1 MAF1 SHARPIN GRINA MIR6846 EXOSC4 MIR6847

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