Hs04011472_cn

• Gene Symbol: CPT1C
• Assay Reference Genome Location: Chr.19:49699533 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 8

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

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

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