Hs04016141_cn

• Gene Symbol: CPT1C
• Assay Reference Genome Location: Chr.19:49696379 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 126129
• Gene Name: carnitine palmitoyltransferase 1C
• Gene Aliases: CATL1, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73
• Location: Chr.19:49690672-49713731 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CPT1C	NM_001136052.2			NP_001129524.1
	NM_001199752.2			NP_001186681.1
	NM_001199753.1			NP_001186682.1
	NM_152359.2			NP_689572.1
	NR_108072.1
	XM_005258505.2			XP_005258562.1
	XM_005258506.4			XP_005258563.1
	XM_006723009.3			XP_006723072.1
	XM_011526438.2			XP_011524740.1
	XM_011526439.2			XP_011524741.1
	XM_011526440.2			XP_011524742.1
	XM_017026265.1			XP_016881754.1
	XM_017026266.1			XP_016881755.1
	XM_017026267.1			XP_016881756.1
	XM_017026268.1			XP_016881757.1
	XM_017026269.1			XP_016881758.1
	XM_017026270.1			XP_016881759.1
	XM_017026271.1			XP_016881760.1
	XM_017026272.1			XP_016881761.1
	XM_017026273.1			XP_016881762.1
	AF357970.1			AAL99615.1
	AK096516.1
	AK289713.1
	AK290092.1
	AK299866.1
	AK309087.1
	BC029104.1			AAH29104.1
	BP194020.1
	DB456457.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv469715	Chr.19:49572544 - 49730286 on Build GRCh38	Gain+Loss	ADM5 SCAF1 CPT1C PRR12 RRAS MIR5088 PRMT1 BCL2L12 NOSIP IRF3 PRRG2
nsv833865	Chr.19:49572545 - 49730286 on Build GRCh38	Gain+Loss	ADM5 SCAF1 CPT1C PRR12 RRAS MIR5088 PRMT1 BCL2L12 NOSIP IRF3 PRRG2
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	EMP3 SNAR-A13 KDELR1 CPT1C SIGLEC11 PTOV1 BSPH1 SNAR-C3 SIGLEC16 LHB ADM5 CGB2 SNAR-A11 ZNF114 PTOV1-AS1 SNORD34 MIR4751 RPL18 FAM83E MIR6799 NUP62 SNAR-A1 SNAR-A8 NOSIP PNKP LIN7B CCDC155 CCDC114 SNAR-C1 CGB3 MIR5088 SNAR-G2 RCN3 FGF21 SNAR-B1 SLC17A7 SNAR-B2 SNAR-A6 PIH1D1 SLC6A16 SNORD35A CGB8 RASIP1 DHDH CA11 SNAR-G1 IRF3 CARD8-AS1 TSKS ZNF473 SNAR-A10 PLEKHA4 AKT1S1 MIR4749 C19orf73 FUZ GRIN2D MIR6800 ATF5 NTF4 LOC100287477 PTOV1-AS2 KCNA7 FUT1 PRR12 BCAT2 SNORD33 C19orf68 SNAR-C2 MIR150 SNAR-A7 ALDH16A1 SNRNP70 KCNJ14 SNAR-A9 LIG1 NTN5 BAX GFY FLJ26850 PRMT1 LOC105372430 SNAR-C5 LOC105447645 BCL2L12 TBC1D17 SNAR-A5 SNAR-A2 TRPM4 TULP2 IL4I1 AP2A1 FTL SNAR-C4 CGB7 NUCB1 DKKL1 CABP5 GRWD1 PTH2 FLT3LG SULT2B1 PLA2G4C RPS11 PLA2G4C-AS1 HRC LOC101928295 LOC101059948 SPACA4 CYTH2 DBP SNAR-A12 SEC1P MIR6798 SYNGR4 MIR4324 FUT2 SNAR-A4 MAMSTR RPL13A SNAR-A14 PPFIA3 CD37 CGB5 PRRG2 NUCB1-AS1 RUVBL2 HSD17B14 MED25 IZUMO1 SNAR-A3 VRK3 ELSPBP1 SNAR-D SNORD35B SCAF1 CARD8 GYS1 MIR4750 RRAS FCGRT CGB1 TMEM143 LMTK3 SNORD32A PPP1R15A TEAD2 SPHK2
nsv817854	Chr.19:49618821 - 49726387 on Build GRCh38	Gain	ADM5 SCAF1 CPT1C PRR12 RRAS MIR5088 PRMT1 BCL2L12 IRF3
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	CPT1C PTOV1 IRF3 ADM5 TSKS PTOV1-AS1 PRMT1 BCL2L12 AKT1S1 TBC1D17 MIR4751 PRRG2 MIR4749 IL4I1 MIR6799 FUZ NUP62 MIR6800 MED25 AP2A1 ATF5 PTOV1-AS2 NOSIP PNKP SCAF1 PRR12 MIR4750 RRAS MIR5088
nsv833864	Chr.19:49551790 - 49733819 on Build GRCh38	Gain	ADM5 SCAF1 CPT1C PRR12 RRAS MIR5088 PRMT1 BCL2L12 NOSIP IRF3 PRRG2
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	MIR150 CPT1C SNORD35A IRF3 ADM5 TSKS PTOV1-AS1 PRMT1 BCL2L12 SNORD34 RPL13A PRRG2 MIR6799 FUZ MIR6800 MED25 AP2A1 NOSIP SNORD35B SCAF1 PRR12 RRAS FCGRT MIR5088 RCN3 SNORD32A RPS11 SNORD33

More Information

Additional Information:

For this assay, SNP(s) [rs78576345] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Process(es)

fatty acid beta-oxidation
carnitine metabolic process

Function(s)

carnitine O-palmitoyltransferase activity
protein binding