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

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