Hs01911257_cn

• Gene Symbol: C17orf49
• Assay Reference Genome Location: Chr.17:7015876 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 124944
• Gene Name: chromosome 17 open reading frame 49
• Gene Aliases: BAP18, HEPIS
• Location: Chr.17:7014737-7017524 on Build GRCh38
• Assay Gene Location: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C17orf49	NM_001142798.2			NP_001136270.1
	NM_001142799.2			NP_001136271.1
	NM_174893.3			NP_777553.1
	AK055800.1	2	940
	AK295795.1
	BC040036.1			AAH40036.1
	BM011108.1
	BU596784.1
	BU730728.1
	CB119197.1
	CN280697.1

Target Gene Details

• Entrez Gene ID: 100506755
• Gene Name: mir-497-195 cluster host gene
• Gene Aliases: MIR195HG
• Location: Chr.17:7015818-7019654 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR497HG	NR_038310.1

Target Gene Details

• Entrez Gene ID: 100529209
• Gene Name: RNASEK-C17orf49 readthrough
• Gene Aliases: -
• Location: Chr.17:7012417-7017524 on Build GRCh38
• Assay Gene Location: Overlaps Exon 5 - Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNASEK-C17orf49	NR_037717.1
	BC040148.1			AAH40148.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	DVL2 ACADVL ALOX12-AS1 SLC16A13 LOC107983988 GABARAP FGF11 CHRNB1 TNFSF12 LOC100996842 SHBG TMEM95 SNORA48 RNASEK NEURL4 ALOX12 ASGR1 C17orf74 TMEM256-PLSCR3 SLC2A4 TMEM102 ASGR2 MIR497 BCL6B SOX15 C17orf49 TNFSF13 RNASEK-C17orf49 ACAP1 SNORA67 SAT2 FBXO39 KCTD11 PHF23 POLR2A EIF5A SPEM1 SENP3 YBX2 ATP1B2 TNFSF12-TNFSF13 CTDNEP1 MIR497HG SLC35G6 NLGN2 ELP5 EIF4A1 PLSCR3 CLEC10A ALOX12P2 TNK1 SNORD10 SENP3-EIF4A1 TMEM256 ZBTB4 SLC16A11 CLDN7 DLG4 CD68 TEKT1 GPS2 MPDU1 MIR195 MIR324 FXR2
nsv952117	Chr.17:7014482 - 7028381 on Build GRCh38	Deletion	MIR497HG MIR497 BCL6B RNASEK C17orf49 RNASEK-C17orf49 MIR195
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	DVL2 ACADVL ALOX12-AS1 TP53 SLC16A13 LOC107983988 GABARAP FGF11 CHRNB1 TNFSF12 LOC100996842 SHBG TMEM95 SNORA48 RNASEK NEURL4 WRAP53 ALOX12 ASGR1 C17orf74 TMEM256-PLSCR3 SLC2A4 TMEM102 ASGR2 MIR497 BCL6B SOX15 C17orf49 TNFSF13 RNASEK-C17orf49 ACAP1 SNORA67 SAT2 KCTD11 PHF23 POLR2A EIF5A SPEM1 SENP3 YBX2 ATP1B2 TNFSF12-TNFSF13 CTDNEP1 MIR497HG SLC35G6 NLGN2 ELP5 EIF4A1 PLSCR3 CLEC10A TNK1 SNORD10 SENP3-EIF4A1 TMEM256 ZBTB4 SLC16A11 CLDN7 DLG4 CD68 GPS2 MPDU1 MIR195 MIR324 FXR2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

covalent chromatin modification

Function(s)

DNA binding