Hs02395750_cn

• Gene Symbol: CHTF18
• Assay Reference Genome Location: Chr.16:792772 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 11 - Intron 11

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
	AK309804.1
	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 CHTF18 MSLN GNG13 MIR662
esv3637582	Chr.16:751057 - 851536 on Build GRCh38	Gain	PRR25 RPUSD1 CHTF18 MSLN GNG13 MIR662
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	RHBDF1 MPG MIR3177 PGP RPL23AP5 LOC100134368 ECI1 METRN RAB11FIP3 DECR2 HS3ST6 ARHGDIG MIR4717 METTL26 NARFL SNORA64 MRPS34 LOC106660606 WASIR2 LOC105371184 CCDC78 AMDHD2 NME4 PRSS29P MIR3176 MIR1225 TELO2 HBM FAHD1 CAPN15 FBXL16 LOC107987233 PRR25 RPUSD1 C1QTNF8 SYNGR3 C16orf59 RAB26 MSRB1 DDX11L10 GFER E4F1 LMF1 TPSB2 SPSB3 NME3 MLST8 SNORA10 TPSD1 MIR6511B1 SNORA78 HBA2 SLC9A3R2 SSTR5 ABCA17P SOX8 HBZ NTHL1 JMJD8 MIR5587 CASKIN1 UBE2I UNKL C16orf91 LOC105371038 RAB40C TBL3 SSTR5-AS1 GNPTG BRICD5 RGS11 NOXO1 HAGHL IFT140 LOC100287175 LUC7L ERVK13-1 TSR3 PRSS27 MRPL28 LOC105371045 PIGQ CRAMP1 NPW MIR940 MIR6767 WDR24 HN1L HBQ1 LOC105371046 CCDC154 NUBP2 STUB1 MIR6859-4 LINC00254 LINC00235 LOC101929280 LOC652276 LOC729652 WFIKKN1 CHTF18 PRR35 TBC1D24 SNORD60 NHLRC4 MIR4516 ZNF598 RHOT2 GNG13 NPRL3 TPSG1 LMF1-AS1 MIR3677 CLCN7 PKD1 FLJ42627 TMEM8A AXIN1 RPL3L SNRNP25 BAIAP3 TMEM204 MAPK8IP3 FAM234A MEIOB TSC2 WDR90 RPS2 NTN3 MIR6768 MIR662 TPSAB1 PDIA2 SNHG19 MCRIP2 IGFALS DNASE1L2 LOC105371047 CEMP1 CCNF LOC107984876 LOC105371049 NDUFB10 RNF151 RNPS1 SNHG9 EME2 ATP6V0C CACNA1H MIR3178 POLR3K FAM173A HBA1 MIR3180-5 KCTD5 RHBDL1 ABCA3 HAGH MSLN PDPK1 TRAF7 PTX4
nsv471063	Chr.16:520623 - 852322 on Build GRCh38	Loss	STUB1 WDR90 METRN RAB11FIP3 MIR662 MCRIP2 LINC00235 LOC101929280 METTL26 NARFL WFIKKN1 JMJD8 LOC105371184 CCDC78 MIR5587 CHTF18 MIR3176 LOC105371038 RAB40C CAPN15 PRR35 NHLRC4 FBXL16 LOC107987233 PRR25 RPUSD1 RHOT2 HAGHL GNG13 LOC100287175 FAM173A RHBDL1 PIGQ MSLN WDR24
nsv526903	Chr.16:451362 - 810673 on Build GRCh38	Loss	STUB1 WDR90 METRN RAB11FIP3 MIR662 MCRIP2 LINC00235 LOC101929280 METTL26 NARFL WFIKKN1 JMJD8 LOC105371184 CCDC78 MIR5587 CHTF18 MIR3176 LOC105371038 RAB40C CAPN15 PRR35 NHLRC4 FBXL16 LOC107987233 PRR25 RPUSD1 RHOT2 HAGHL GNG13 LOC100287175 FAM173A RHBDL1 PIGQ MSLN WDR24
nsv952898	Chr.16:495001 - 1132900 on Build GRCh38	Deletion	STUB1 WDR90 METRN RAB11FIP3 MIR662 MCRIP2 LINC00235 LOC101929280 METTL26 SSTR5 NARFL SOX8 WFIKKN1 JMJD8 LOC107984876 LOC105371184 CCDC78 MIR5587 CHTF18 MIR3176 LOC105371038 RAB40C CAPN15 SSTR5-AS1 PRR35 NHLRC4 FBXL16 LOC107987233 PRR25 RPUSD1 C1QTNF8 RHOT2 HAGHL GNG13 LOC100287175 LMF1-AS1 FAM173A RHBDL1 PIGQ LMF1 MSLN WDR24
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	STUB1 WDR90 METRN MIR662 MCRIP2 LOC101929280 METTL26 NARFL WFIKKN1 JMJD8 LOC105371184 CCDC78 CHTF18 LOC105371038 RAB40C FBXL16 RPUSD1 RHOT2 HAGHL GNG13 LOC100287175 FAM173A RHBDL1 PIGQ MSLN WDR24
nsv571043	Chr.16:787857 - 798755 on Build GRCh38	Loss	RPUSD1 CHTF18 GNG13
nsv1160325	Chr.16:506925 - 836376 on Build GRCh38	Duplication	STUB1 WDR90 METRN RAB11FIP3 MIR662 MCRIP2 LINC00235 LOC101929280 METTL26 NARFL WFIKKN1 JMJD8 LOC105371184 CCDC78 MIR5587 CHTF18 MIR3176 LOC105371038 RAB40C CAPN15 PRR35 NHLRC4 FBXL16 LOC107987233 PRR25 RPUSD1 RHOT2 HAGHL GNG13 LOC100287175 FAM173A RHBDL1 PIGQ MSLN WDR24
nsv571040	Chr.16:774098 - 797597 on Build GRCh38	Loss	RPUSD1 CHTF18
nsv9321	Chr.16:638149 - 804328 on Build GRCh38	Gain+Loss	FBXL16 STUB1 WDR90 RPUSD1 RHOT2 HAGHL METRN GNG13 MIR662 LOC100287175 FAM173A MCRIP2 RHBDL1 NARFL JMJD8 LOC105371184 CCDC78 CHTF18 MSLN WDR24 LOC105371038
nsv571045	Chr.16:790597 - 847566 on Build GRCh38	Gain	PRR25 CHTF18 GNG13
dgv4827n54	Chr.16:760039 - 810673 on Build GRCh38	Loss	PRR25 RPUSD1 CHTF18 MSLN 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