Hs04017364_cn

• Gene Symbol: CPT1C
• Assay Reference Genome Location: Chr.19:49702866 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 11

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
	AB208884.1			BAD92121.1
	AF357970.1			AAL99615.1
	AK096516.1
	AK289713.1
	AK290092.1
	AK299866.1
	AK309087.1
	BC029104.1			AAH29104.1

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

More Information

• 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