Hs01333757_cn

• Gene Symbol: CHTF18
• Assay Reference Genome Location: Chr.16:798092 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 21

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
	AI650845.1
	AK024476.1			BAB15766.1
	AK128869.1
	BC006278.2			AAH06278.2
	BC006437.1			AAH06437.1
	BC018184.1			AAH18184.1

Target Gene Details

• Entrez Gene ID: 51764
• Gene Name: G protein subunit gamma 13
• Gene Aliases: G(gamma)13, h2-35
• Location: Chr.16:798041-800733 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNG13	NM_016541.2	3	933	NP_057625.1
	AB030207.1	3	912	BAA92768.1
	AY029486.1	3	899	AAK40269.1
	BM931126.1	1	481

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	MIR662 RPUSD1 PRR25 CHTF18 GNG13 MSLN
esv3637582	Chr.16:751057 - 851536 on Build GRCh38	Gain	MIR662 RPUSD1 PRR25 CHTF18 GNG13 MSLN
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	NDUFB10 MPG NME4 RPUSD1 MIR1225 PKD1 RGS11 RHOT2 SSTR5-AS1 LINC00254 RNPS1 PIGQ RNF151 KCTD5 HS3ST6 LOC106660606 SLC9A3R2 TSC2 PGP CRAMP1 WDR24 LOC105371038 NME3 CHTF18 TRAF7 LOC105371045 JMJD8 LOC101929280 EME2 MIR4516 LOC105371049 CLCN7 RAB26 MLST8 NTHL1 STUB1 NARFL DDX11L10 SYNGR3 LOC652276 RHBDF1 PTX4 NOXO1 FAM234A MIR3178 LINC00235 TPSG1 IFT140 LOC729652 PRR35 METTL26 TPSB2 C16orf59 MIR6859-4 DECR2 FLJ42627 BRICD5 RAB40C NUBP2 GNPTG LMF1 CAPN15 ABCA17P NPW AMDHD2 LMF1-AS1 NHLRC4 TBC1D24 CASKIN1 C16orf91 GFER RAB11FIP3 TBL3 MIR662 FBXL16 TMEM8A MRPS34 FAHD1 NPRL3 SNORA10 HBA2 ERVK13-1 PDIA2 CEMP1 MRPL28 SPSB3 MIR3177 POLR3K TPSAB1 UBE2I BAIAP3 PRSS29P HBA1 SNRNP25 CACNA1H SOX8 METRN MIR3180-5 RHBDL1 LOC100134368 AXIN1 HBQ1 HN1L ZNF598 FAM173A MIR4717 LUC7L LOC105371046 LOC100287175 TSR3 PRR25 ARHGDIG HBZ SNORA64 TELO2 MIR940 LOC105371184 MCRIP2 TMEM204 HBM UNKL C1QTNF8 MAPK8IP3 ATP6V0C MIR6768 CCNF MIR6767 WFIKKN1 LOC107987233 LOC107984876 RPL23AP5 HAGH SSTR5 WDR90 PDPK1 IGFALS NTN3 RPL3L ABCA3 SNORD60 MSRB1 GNG13 MIR3176 MIR5587 MIR6511B1 LOC105371047 CCDC154 RPS2 MSLN SNHG19 TPSD1 WASIR2 MIR3677 SNHG9 HAGHL ECI1 DNASE1L2 PRSS27 E4F1 MEIOB CCDC78 SNORA78
nsv471063	Chr.16:520623 - 852322 on Build GRCh38	Loss	LINC00235 RPUSD1 WFIKKN1 LOC107987233 RHOT2 PRR35 WDR90 METTL26 PIGQ RAB40C METRN CAPN15 WDR24 LOC105371038 CHTF18 RHBDL1 GNG13 JMJD8 NHLRC4 LOC101929280 FAM173A MIR3176 MIR5587 LOC100287175 PRR25 RAB11FIP3 MSLN MIR662 STUB1 NARFL FBXL16 LOC105371184 MCRIP2 HAGHL CCDC78
nsv526903	Chr.16:451362 - 810673 on Build GRCh38	Loss	LINC00235 RPUSD1 WFIKKN1 LOC107987233 RHOT2 PRR35 WDR90 METTL26 PIGQ RAB40C METRN CAPN15 WDR24 LOC105371038 CHTF18 RHBDL1 GNG13 JMJD8 NHLRC4 LOC101929280 FAM173A MIR3176 MIR5587 LOC100287175 PRR25 RAB11FIP3 MSLN MIR662 STUB1 NARFL FBXL16 LOC105371184 MCRIP2 HAGHL CCDC78
esv3570042	Chr.16:793849 - 822928 on Build GRCh38	Gain	PRR25 CHTF18 GNG13
nsv952898	Chr.16:495001 - 1132900 on Build GRCh38	Deletion	LINC00235 RPUSD1 WFIKKN1 LOC107987233 LOC107984876 RHOT2 SSTR5-AS1 SSTR5 PRR35 WDR90 METTL26 PIGQ RAB40C SOX8 METRN LMF1 CAPN15 WDR24 LOC105371038 CHTF18 RHBDL1 GNG13 LMF1-AS1 JMJD8 NHLRC4 LOC101929280 FAM173A MIR3176 MIR5587 LOC100287175 PRR25 RAB11FIP3 MSLN MIR662 STUB1 NARFL FBXL16 LOC105371184 MCRIP2 HAGHL C1QTNF8 CCDC78
nsv571042	Chr.16:785298 - 847566 on Build GRCh38	Loss	RPUSD1 PRR25 CHTF18 GNG13
nsv482184	Chr.16:798041 - 800733 on Build GRCh38	Gain	CHTF18 GNG13
nsv1160326	Chr.16:580902 - 804689 on Build GRCh38	Duplication	RPUSD1 WFIKKN1 RHOT2 WDR90 METTL26 PIGQ RAB40C METRN WDR24 LOC105371038 CHTF18 RHBDL1 GNG13 JMJD8 LOC101929280 FAM173A LOC100287175 MSLN MIR662 STUB1 NARFL FBXL16 LOC105371184 MCRIP2 HAGHL CCDC78
esv3637584	Chr.16:798001 - 812299 on Build GRCh38	Loss	PRR25 CHTF18 GNG13
nsv1160325	Chr.16:506925 - 836376 on Build GRCh38	Duplication	LINC00235 RPUSD1 WFIKKN1 LOC107987233 RHOT2 PRR35 WDR90 METTL26 PIGQ RAB40C METRN CAPN15 WDR24 LOC105371038 CHTF18 RHBDL1 GNG13 JMJD8 NHLRC4 LOC101929280 FAM173A MIR3176 MIR5587 LOC100287175 PRR25 RAB11FIP3 MSLN MIR662 STUB1 NARFL FBXL16 LOC105371184 MCRIP2 HAGHL CCDC78
nsv571043	Chr.16:787857 - 798755 on Build GRCh38	Loss	RPUSD1 CHTF18 GNG13
nsv817712	Chr.16:774098 - 810673 on Build GRCh38	Loss	RPUSD1 PRR25 CHTF18 GNG13
nsv9321	Chr.16:638149 - 804328 on Build GRCh38	Gain+Loss	JMJD8 FAM173A RPUSD1 LOC100287175 RHOT2 MSLN WDR90 MIR662 STUB1 NARFL FBXL16 LOC105371184 METRN MCRIP2 WDR24 HAGHL LOC105371038 CHTF18 RHBDL1 GNG13 CCDC78
nsv571045	Chr.16:790597 - 847566 on Build GRCh38	Gain	PRR25 CHTF18 GNG13
nsv517488	Chr.16:760039 - 810673 on Build GRCh38	Loss	MIR662 RPUSD1 PRR25 CHTF18 GNG13 MSLN

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein, heterotrimeric G-protein

Gene Ontology Categories:

Process(es)

DNA replication
cell cycle
positive regulation of DNA-directed DNA polymerase activity
phospholipase C-activating G-protein coupled receptor signaling pathway
sensory perception of taste
cellular response to glucagon stimulus

Function(s)

DNA clamp loader activity
protein binding
ATP binding
single-stranded DNA-dependent ATPase activity
signal transducer activity
G-protein beta-subunit binding