Hs00573150_cn

• Gene Symbol: C17orf49
• Assay Reference Genome Location: Chr.17:7016515 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 Intron 3 - Exon 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
	AK055800.1	2	1579
	AK295795.1
	BC040036.1			AAH40036.1
	BM011108.1
	BU596784.1
	BU730728.1
	CA449884.1
	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: 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 Intron 5 - Exon 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	TEKT1 NEURL4 SLC16A11 KCTD11 TNFSF12 SPEM1 SNORA67 C17orf74 CD68 MIR497HG FBXO39 ASGR1 MIR324 TMEM256 PLSCR3 FXR2 CTDNEP1 YBX2 SENP3 SNORA48 SLC16A13 POLR2A SLC35G6 MIR497 PHF23 NLGN2 FGF11 TNK1 RNASEK ELP5 CLEC10A BCL6B ALOX12P2 RNASEK-C17orf49 SHBG GPS2 SENP3-EIF4A1 DLG4 EIF5A TMEM256-PLSCR3 ZBTB4 LOC100996842 TMEM102 CLDN7 TNFSF13 MPDU1 SLC2A4 MIR195 C17orf49 ASGR2 TMEM95 TNFSF12-TNFSF13 ALOX12-AS1 GABARAP ATP1B2 ACAP1 ACADVL SNORD10 EIF4A1 DVL2 CHRNB1 SAT2 LOC107983988 SOX15 ALOX12
nsv952117	Chr.17:7014482 - 7028381 on Build GRCh38	Deletion	MIR195 C17orf49 MIR497HG RNASEK BCL6B RNASEK-C17orf49 MIR497
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	NEURL4 SLC16A11 KCTD11 TNFSF12 SPEM1 SNORA67 C17orf74 WRAP53 CD68 MIR497HG ASGR1 MIR324 TMEM256 PLSCR3 FXR2 CTDNEP1 YBX2 SENP3 SNORA48 SLC16A13 POLR2A SLC35G6 MIR497 PHF23 NLGN2 FGF11 TNK1 RNASEK ELP5 CLEC10A BCL6B TP53 RNASEK-C17orf49 SHBG GPS2 SENP3-EIF4A1 DLG4 EIF5A TMEM256-PLSCR3 ZBTB4 LOC100996842 TMEM102 CLDN7 TNFSF13 MPDU1 SLC2A4 MIR195 C17orf49 ASGR2 TMEM95 TNFSF12-TNFSF13 ALOX12-AS1 GABARAP ATP1B2 ACAP1 ACADVL SNORD10 EIF4A1 DVL2 CHRNB1 SAT2 LOC107983988 SOX15 ALOX12

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