Hs00428211_cn

• Gene Symbol: C17orf49
• Assay Reference Genome Location: Chr.17:7017532 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 6

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
	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 1

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 8

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

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