Hs03936043_cn

• Gene Symbol: CHTF18
• Assay Reference Genome Location: Chr.16:790705 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 6 - Intron 6

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_017023532.1			XP_016879021.1
	XM_017023533.1			XP_016879022.1
	XM_017023534.1			XP_016879023.1
	AK024476.1	7	1153	BAB15766.1
	AK128869.1	6	736
	AK293846.1	7	1010
	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	MSLN MIR662 CHTF18 GNG13 PRR25 RPUSD1
esv3637582	Chr.16:751057 - 851536 on Build GRCh38	Gain	MSLN MIR662 CHTF18 GNG13 PRR25 RPUSD1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	TPSD1 CCNF MIR4717 LOC105371184 FAHD1 JMJD8 TBL3 LOC105371046 WDR24 HBZ TBC1D24 UNKL PDPK1 FBXL16 DECR2 NHLRC4 MIR1225 SNHG9 PRR35 RAB11FIP3 LOC100287175 PRSS27 CASKIN1 MIR3176 GNG13 HN1L ABCA17P KCTD5 PDIA2 SSTR5 IGFALS LOC105371047 RHOT2 NARFL LOC105371038 MIR6768 MIR662 SPSB3 RAB26 CHTF18 PRR25 ZNF598 LINC00254 SNHG19 FAM173A SLC9A3R2 GFER SNORA78 EME2 SNORA64 DDX11L10 MSRB1 TMEM8A GNPTG LOC106660606 MIR3677 RPS2 ARHGDIG LOC105371045 LUC7L MIR5587 DNASE1L2 C16orf59 ABCA3 LMF1-AS1 IFT140 ATP6V0C MEIOB NOXO1 E4F1 MIR3178 WASIR2 RPL23AP5 RPL3L SNORA10 CEMP1 NUBP2 CCDC78 ECI1 NTN3 CCDC154 SYNGR3 PIGQ LOC105371049 RHBDF1 TPSB2 STUB1 TSR3 MIR4516 ERVK13-1 FAM234A RHBDL1 AXIN1 MPG MAPK8IP3 AMDHD2 MIR6511B1 RAB40C LOC652276 MRPL28 NDUFB10 SOX8 CLCN7 NME3 SNORD60 LMF1 HBA2 WFIKKN1 PKD1 MIR940 SSTR5-AS1 RNPS1 SNRNP25 RGS11 LOC101929280 CACNA1H TPSAB1 C1QTNF8 HS3ST6 MRPS34 PTX4 TPSG1 MIR6859-4 PGP METTL26 BRICD5 HBQ1 RNF151 NPRL3 MCRIP2 MLST8 HBM HAGH NPW HBA1 LOC729652 LOC100134368 TRAF7 C16orf91 PRSS29P MIR3180-5 TMEM204 UBE2I FLJ42627 CAPN15 LOC107987233 LOC107984876 POLR3K TSC2 MSLN CRAMP1 BAIAP3 HAGHL TELO2 RPUSD1 MIR6767 NTHL1 WDR90 LINC00235 NME4 MIR3177 METRN
nsv471063	Chr.16:520623 - 852322 on Build GRCh38	Loss	PIGQ FAM173A MCRIP2 STUB1 LOC105371184 JMJD8 RHBDL1 WDR24 CAPN15 FBXL16 RAB40C NHLRC4 MIR5587 LOC107987233 MSLN PRR35 RAB11FIP3 LOC100287175 MIR3176 WFIKKN1 GNG13 HAGHL RPUSD1 LOC101929280 WDR90 RHOT2 CCDC78 LINC00235 NARFL LOC105371038 MIR662 CHTF18 PRR25 METRN METTL26
nsv526903	Chr.16:451362 - 810673 on Build GRCh38	Loss	PIGQ FAM173A MCRIP2 STUB1 LOC105371184 JMJD8 RHBDL1 WDR24 CAPN15 FBXL16 RAB40C NHLRC4 MIR5587 LOC107987233 MSLN PRR35 RAB11FIP3 LOC100287175 MIR3176 WFIKKN1 GNG13 HAGHL RPUSD1 LOC101929280 WDR90 RHOT2 CCDC78 LINC00235 NARFL LOC105371038 MIR662 CHTF18 PRR25 METRN METTL26
nsv952898	Chr.16:495001 - 1132900 on Build GRCh38	Deletion	PIGQ FAM173A MCRIP2 STUB1 LOC105371184 JMJD8 RHBDL1 WDR24 CAPN15 FBXL16 RAB40C NHLRC4 MIR5587 LOC107987233 LOC107984876 LMF1-AS1 SOX8 MSLN PRR35 RAB11FIP3 LOC100287175 MIR3176 LMF1 WFIKKN1 GNG13 HAGHL SSTR5-AS1 RPUSD1 SSTR5 LOC101929280 C1QTNF8 WDR90 RHOT2 CCDC78 LINC00235 NARFL LOC105371038 MIR662 CHTF18 PRR25 METRN METTL26
nsv571044	Chr.16:790409 - 796798 on Build GRCh38	Loss	CHTF18
nsv571042	Chr.16:785298 - 847566 on Build GRCh38	Loss	CHTF18 GNG13 PRR25 RPUSD1
nsv1160326	Chr.16:580902 - 804689 on Build GRCh38	Duplication	PIGQ FAM173A MCRIP2 STUB1 LOC105371184 JMJD8 RHBDL1 WDR24 FBXL16 RAB40C MSLN LOC100287175 WFIKKN1 GNG13 HAGHL RPUSD1 LOC101929280 WDR90 RHOT2 CCDC78 NARFL LOC105371038 MIR662 CHTF18 METRN METTL26
nsv571043	Chr.16:787857 - 798755 on Build GRCh38	Loss	CHTF18 GNG13 RPUSD1
nsv1160325	Chr.16:506925 - 836376 on Build GRCh38	Duplication	PIGQ FAM173A MCRIP2 STUB1 LOC105371184 JMJD8 RHBDL1 WDR24 CAPN15 FBXL16 RAB40C NHLRC4 MIR5587 LOC107987233 MSLN PRR35 RAB11FIP3 LOC100287175 MIR3176 WFIKKN1 GNG13 HAGHL RPUSD1 LOC101929280 WDR90 RHOT2 CCDC78 LINC00235 NARFL LOC105371038 MIR662 CHTF18 PRR25 METRN METTL26
nsv571040	Chr.16:774098 - 797597 on Build GRCh38	Loss	CHTF18 RPUSD1
nsv9321	Chr.16:638149 - 804328 on Build GRCh38	Gain+Loss	FAM173A MCRIP2 MSLN LOC100287175 GNG13 HAGHL RPUSD1 STUB1 LOC105371184 JMJD8 RHBDL1 WDR90 RHOT2 WDR24 CCDC78 NARFL LOC105371038 MIR662 CHTF18 FBXL16 METRN
nsv571045	Chr.16:790597 - 847566 on Build GRCh38	Gain	CHTF18 GNG13 PRR25
dgv4827n54	Chr.16:760039 - 810673 on Build GRCh38	Loss	MSLN MIR662 CHTF18 GNG13 PRR25 RPUSD1

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