Hs02323119_cn

• Gene Symbol: C17orf49
• Assay Reference Genome Location: Chr.17:7016995 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 5 - Intron 5

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
	AI183273.1
	AK055800.1
	AK295795.1
	BC040036.1			AAH40036.1
	BM011108.1
	BU596784.1
	BU730728.1
	CA449884.1
	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: Within Intron 2

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 7 - Intron 7

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

More Information

• Set Membership: Intragenic, Intronic, 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