Hs00864071_cn

• Gene Symbol: C17orf49
• Assay Reference Genome Location: Chr.17:7016691 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 4 - Intron 4

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	2	1755
	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 6 - Intron 6

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

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