Hs01570051_cn

• Gene Symbol: CHTF18
• Assay Reference Genome Location: Chr.16:794168 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 63922
• Gene Name: chromosome transmission fidelity factor 18
• Gene Aliases: C16orf41, C321D2.2, C321D2.3, C321D2.4, CHL12, Ctf18, RUVBL
• Location: Chr.16:788622-798074 on Build GRCh38
• Assay Gene Location: Overlaps Exon 14 - Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHTF18	NM_022092.2			NP_071375.1
	XM_005255470.1			XP_005255527.1
	XM_005255471.3			XP_005255528.1
	XM_011522572.1			XP_011520874.1
	XM_011522573.1			XP_011520875.1
	XM_017023532.1			XP_016879021.1
	XM_017023533.1			XP_016879022.1
	XM_017023534.1			XP_016879023.1
	AK024476.1			BAB15766.1
	AK128869.1
	BC006278.2			AAH06278.2
	BC006437.1			AAH06437.1
	BC018184.1			AAH18184.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4828n54	Chr.16:760143 - 828324 on Build GRCh38	Gain	PRR25 RPUSD1 MSLN CHTF18 GNG13 MIR662
esv3637582	Chr.16:751057 - 851536 on Build GRCh38	Gain	PRR25 RPUSD1 MSLN CHTF18 GNG13 MIR662
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	ABCA17P IFT140 E4F1 LOC101929280 PDPK1 LOC729652 SNHG19 TPSB2 PDIA2 JMJD8 NPW NTHL1 ECI1 PRR25 AXIN1 MIR5587 C16orf59 HBZ ERVK13-1 RNPS1 MIR6859-4 STUB1 SNORA10 ARHGDIG WDR90 MIR3180-5 NTN3 MIR4717 TSC2 DNASE1L2 LOC652276 LOC105371049 NME4 SNORA78 HS3ST6 HBA1 AMDHD2 WFIKKN1 RPL3L RPS2 HBA2 RPL23AP5 LOC105371184 MIR3177 GFER MSLN MIR4516 MIR662 SSTR5-AS1 WDR24 CAPN15 LOC107987233 TMEM204 MIR3176 LOC107984876 CEMP1 FAM173A NPRL3 SNRNP25 CASKIN1 HAGH RNF151 TELO2 SNORA64 POLR3K MIR3677 MIR3178 PTX4 MCRIP2 RHBDL1 UBE2I EME2 MIR940 PRR35 GNG13 MIR6511B1 TMEM8A C16orf91 RAB11FIP3 FAM234A RGS11 LOC105371045 MIR6767 LOC100287175 UNKL PIGQ LMF1-AS1 TRAF7 CCNF DDX11L10 LMF1 NARFL IGFALS SYNGR3 LINC00254 BAIAP3 FLJ42627 RHBDF1 MRPL28 PRSS27 MSRB1 LOC105371047 NOXO1 LOC105371046 MAPK8IP3 ZNF598 HAGHL CACNA1H GNPTG NME3 CCDC78 LOC105371038 RPUSD1 KCTD5 PKD1 SNHG9 CCDC154 LOC106660606 MEIOB NUBP2 C1QTNF8 PGP TPSD1 LUC7L MPG MIR6768 METRN TPSG1 METTL26 LINC00235 WASIR2 SLC9A3R2 RHOT2 CRAMP1 TBL3 SSTR5 NHLRC4 LOC100134368 HN1L ATP6V0C PRSS29P SOX8 HBQ1 MLST8 FAHD1 MRPS34 BRICD5 SNORD60 ABCA3 FBXL16 CLCN7 TBC1D24 HBM CHTF18 DECR2 SPSB3 TSR3 RAB26 TPSAB1 NDUFB10 MIR1225 RAB40C
nsv471063	Chr.16:520623 - 852322 on Build GRCh38	Loss	LOC101929280 MSLN METRN MIR662 JMJD8 WDR24 CAPN15 METTL26 LOC107987233 LINC00235 MIR3176 PRR25 FAM173A MIR5587 RHOT2 HAGHL NHLRC4 STUB1 CCDC78 LOC105371038 WDR90 MCRIP2 RPUSD1 RHBDL1 PRR35 GNG13 RAB11FIP3 FBXL16 LOC100287175 PIGQ WFIKKN1 CHTF18 NARFL LOC105371184 RAB40C
nsv526903	Chr.16:451362 - 810673 on Build GRCh38	Loss	LOC101929280 MSLN METRN MIR662 JMJD8 WDR24 CAPN15 METTL26 LOC107987233 LINC00235 MIR3176 PRR25 FAM173A MIR5587 RHOT2 HAGHL NHLRC4 STUB1 CCDC78 LOC105371038 WDR90 MCRIP2 RPUSD1 RHBDL1 PRR35 GNG13 RAB11FIP3 FBXL16 LOC100287175 PIGQ WFIKKN1 CHTF18 NARFL LOC105371184 RAB40C
esv3570042	Chr.16:793849 - 822928 on Build GRCh38	Gain	PRR25 CHTF18 GNG13
nsv952898	Chr.16:495001 - 1132900 on Build GRCh38	Deletion	LOC101929280 MSLN METRN MIR662 SSTR5-AS1 JMJD8 WDR24 CAPN15 METTL26 LOC107987233 LINC00235 MIR3176 LOC107984876 PRR25 FAM173A MIR5587 RHOT2 HAGHL SSTR5 NHLRC4 STUB1 CCDC78 LOC105371038 WDR90 MCRIP2 RPUSD1 SOX8 RHBDL1 PRR35 GNG13 RAB11FIP3 FBXL16 LOC100287175 C1QTNF8 PIGQ LMF1-AS1 WFIKKN1 CHTF18 LMF1 NARFL LOC105371184 RAB40C
nsv571044	Chr.16:790409 - 796798 on Build GRCh38	Loss	CHTF18
nsv571042	Chr.16:785298 - 847566 on Build GRCh38	Loss	PRR25 RPUSD1 CHTF18 GNG13
nsv1160326	Chr.16:580902 - 804689 on Build GRCh38	Duplication	LOC101929280 MSLN METRN MIR662 JMJD8 WDR24 METTL26 FAM173A RHOT2 HAGHL STUB1 CCDC78 LOC105371038 WDR90 MCRIP2 RPUSD1 RHBDL1 GNG13 FBXL16 LOC100287175 PIGQ WFIKKN1 CHTF18 NARFL LOC105371184 RAB40C
nsv1160325	Chr.16:506925 - 836376 on Build GRCh38	Duplication	LOC101929280 MSLN METRN MIR662 JMJD8 WDR24 CAPN15 METTL26 LOC107987233 LINC00235 MIR3176 PRR25 FAM173A MIR5587 RHOT2 HAGHL NHLRC4 STUB1 CCDC78 LOC105371038 WDR90 MCRIP2 RPUSD1 RHBDL1 PRR35 GNG13 RAB11FIP3 FBXL16 LOC100287175 PIGQ WFIKKN1 CHTF18 NARFL LOC105371184 RAB40C
nsv571043	Chr.16:787857 - 798755 on Build GRCh38	Loss	RPUSD1 CHTF18 GNG13
nsv571040	Chr.16:774098 - 797597 on Build GRCh38	Loss	RPUSD1 CHTF18
nsv9321	Chr.16:638149 - 804328 on Build GRCh38	Gain+Loss	MCRIP2 RPUSD1 RHBDL1 MSLN METRN GNG13 MIR662 JMJD8 WDR24 FBXL16 FAM173A LOC100287175 RHOT2 HAGHL CHTF18 STUB1 CCDC78 NARFL LOC105371038 LOC105371184 WDR90
nsv571045	Chr.16:790597 - 847566 on Build GRCh38	Gain	PRR25 CHTF18 GNG13
dgv4827n54	Chr.16:760039 - 810673 on Build GRCh38	Loss	PRR25 RPUSD1 MSLN CHTF18 GNG13 MIR662

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Process(es)

DNA replication
cell cycle
positive regulation of DNA-directed DNA polymerase activity

Function(s)

DNA clamp loader activity
protein binding
ATP binding
single-stranded DNA-dependent ATPase activity