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	MSLN MIR662 CHTF18 PRR25 RPUSD1 GNG13
esv3637582	Chr.16:751057 - 851536 on Build GRCh38	Gain	MSLN MIR662 CHTF18 PRR25 RPUSD1 GNG13
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	ABCA17P MSLN WDR24 MPG LOC105371047 SNHG19 JMJD8 NTN3 PRSS27 TBC1D24 TMEM8A LOC107987233 MIR3677 CLCN7 RHBDL1 SNORA10 LOC105371045 CCNF IGFALS PRR25 MIR3177 SSTR5 LOC107984876 HN1L CASKIN1 RAB26 RNPS1 LMF1 C16orf91 MIR1225 MEIOB WDR90 GNPTG RPS2 FAM173A FBXL16 MRPS34 SNORA78 LOC105371038 MIR3178 LOC106660606 RGS11 GFER STUB1 HS3ST6 LOC100287175 PIGQ BAIAP3 PGP LOC101929280 MIR3176 MCRIP2 GNG13 TPSB2 MIR6768 METTL26 HAGH MIR3180-5 HBA2 SLC9A3R2 AXIN1 ECI1 MAPK8IP3 DNASE1L2 MIR4717 PRSS29P RAB40C RAB11FIP3 CCDC154 SNORA64 TPSG1 MIR940 PDIA2 LOC105371184 TPSD1 LUC7L MIR6859-4 SPSB3 BRICD5 LOC100134368 RPL23AP5 MLST8 AMDHD2 NPRL3 LMF1-AS1 FLJ42627 NUBP2 NHLRC4 E4F1 EME2 DECR2 MIR662 CCDC78 LOC105371046 ARHGDIG TPSAB1 SSTR5-AS1 CRAMP1 DDX11L10 HAGHL WASIR2 HBM SYNGR3 ERVK13-1 NME4 RHOT2 SNORD60 LOC729652 RNF151 POLR3K TRAF7 PDPK1 NPW FAHD1 HBA1 C1QTNF8 NME3 KCTD5 PKD1 FAM234A C16orf59 HBQ1 CEMP1 ATP6V0C MIR6767 TMEM204 TSC2 METRN TBL3 NARFL RHBDF1 NDUFB10 SOX8 HBZ ABCA3 MIR5587 MRPL28 PRR35 LINC00254 UBE2I TSR3 ZNF598 MIR6511B1 RPL3L TELO2 CACNA1H CHTF18 WFIKKN1 LINC00235 RPUSD1 UNKL LOC105371049 PTX4 NTHL1 LOC652276 SNRNP25 SNHG9 NOXO1 MSRB1 IFT140 CAPN15 MIR4516
nsv471063	Chr.16:520623 - 852322 on Build GRCh38	Loss	LOC100287175 MSLN PIGQ WDR24 LOC101929280 JMJD8 MIR3176 METRN MCRIP2 NARFL GNG13 NHLRC4 LOC107987233 METTL26 RHBDL1 MIR662 CCDC78 PRR25 MIR5587 PRR35 HAGHL CHTF18 RAB40C RAB11FIP3 WDR90 WFIKKN1 FAM173A LINC00235 RPUSD1 FBXL16 RHOT2 LOC105371038 LOC105371184 CAPN15 STUB1
nsv526903	Chr.16:451362 - 810673 on Build GRCh38	Loss	LOC100287175 MSLN PIGQ WDR24 LOC101929280 JMJD8 MIR3176 METRN MCRIP2 NARFL GNG13 NHLRC4 LOC107987233 METTL26 RHBDL1 MIR662 CCDC78 PRR25 MIR5587 PRR35 HAGHL CHTF18 RAB40C RAB11FIP3 WDR90 WFIKKN1 FAM173A LINC00235 RPUSD1 FBXL16 RHOT2 LOC105371038 LOC105371184 CAPN15 STUB1
esv3570042	Chr.16:793849 - 822928 on Build GRCh38	Gain	CHTF18 PRR25 GNG13
nsv952898	Chr.16:495001 - 1132900 on Build GRCh38	Deletion	LOC100287175 MSLN PIGQ WDR24 LOC101929280 JMJD8 MIR3176 METRN MCRIP2 LMF1-AS1 NARFL GNG13 NHLRC4 SOX8 LOC107987233 METTL26 RHBDL1 MIR662 CCDC78 PRR25 MIR5587 PRR35 SSTR5 LOC107984876 SSTR5-AS1 HAGHL LMF1 CHTF18 RAB40C RAB11FIP3 WDR90 WFIKKN1 FAM173A LINC00235 RPUSD1 FBXL16 RHOT2 LOC105371038 C1QTNF8 LOC105371184 CAPN15 STUB1
nsv571042	Chr.16:785298 - 847566 on Build GRCh38	Loss	CHTF18 PRR25 RPUSD1 GNG13
nsv482184	Chr.16:798041 - 800733 on Build GRCh38	Gain	CHTF18 GNG13
esv3637585	Chr.16:798001 - 812299 on Build GRCh38	Gain	CHTF18 PRR25 GNG13
nsv1160326	Chr.16:580902 - 804689 on Build GRCh38	Duplication	LOC100287175 MSLN PIGQ WDR24 LOC101929280 JMJD8 METRN MCRIP2 NARFL GNG13 METTL26 RHBDL1 MIR662 CCDC78 HAGHL CHTF18 RAB40C WDR90 WFIKKN1 FAM173A RPUSD1 FBXL16 RHOT2 LOC105371038 LOC105371184 STUB1
nsv571043	Chr.16:787857 - 798755 on Build GRCh38	Loss	CHTF18 RPUSD1 GNG13
nsv1160325	Chr.16:506925 - 836376 on Build GRCh38	Duplication	LOC100287175 MSLN PIGQ WDR24 LOC101929280 JMJD8 MIR3176 METRN MCRIP2 NARFL GNG13 NHLRC4 LOC107987233 METTL26 RHBDL1 MIR662 CCDC78 PRR25 MIR5587 PRR35 HAGHL CHTF18 RAB40C RAB11FIP3 WDR90 WFIKKN1 FAM173A LINC00235 RPUSD1 FBXL16 RHOT2 LOC105371038 LOC105371184 CAPN15 STUB1
nsv817712	Chr.16:774098 - 810673 on Build GRCh38	Loss	CHTF18 PRR25 RPUSD1 GNG13
nsv9321	Chr.16:638149 - 804328 on Build GRCh38	Gain+Loss	LOC100287175 MSLN HAGHL WDR24 JMJD8 METRN CHTF18 MCRIP2 WDR90 NARFL FAM173A RPUSD1 GNG13 FBXL16 RHOT2 LOC105371038 RHBDL1 MIR662 CCDC78 LOC105371184 STUB1
nsv571045	Chr.16:790597 - 847566 on Build GRCh38	Gain	CHTF18 PRR25 GNG13
dgv4827n54	Chr.16:760039 - 810673 on Build GRCh38	Loss	MSLN MIR662 CHTF18 PRR25 RPUSD1 GNG13

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