ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CPT2

Gene summary

Gene information	Gene symbol	CPT2
	Gene ID	1376
	Gene name	carnitine palmitoyltransferase 2
	Synonyms	CPT1\|CPTASE\|IIAE4
	Cytomap	1p32.3
	Type of gene	protein-coding
	Description	carnitine O-palmitoyltransferase 2, mitochondrialCPT IIcarnitine palmitoyltransferase IItesticular secretory protein Li 13
	Modification date	20180523
	UniProtAcc	P23786
	Context	PubMed: CPT2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for CPT2 from UCSC genome browser

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Gene isoform structures and expression levels for CPT2

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for CPT2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_6607	1	53666390:53666471:53667994:53668101:53675686:53676922	53667994:53668101	ENSG00000157184.5	ENST00000371486.3
exon_skip_6610	1	53667994:53668101:53675686:53676991:53678935:53679869	53675686:53676991	ENSG00000157184.5	ENST00000371486.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CPT2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_6607	1	53666390:53666471:53667994:53668101:53675686:53676922	53667994:53668101	ENSG00000157184.5	ENST00000371486.3
exon_skip_6610	1	53667994:53668101:53675686:53676991:53678935:53679869	53675686:53676991	ENSG00000157184.5	ENST00000371486.3

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for CPT2

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000371486	53667994	53668101	Frame-shift
ENST00000371486	53675686	53676991	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000371486	53667994	53668101	Frame-shift
ENST00000371486	53675686	53676991	In-frame

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Infer the effects of exon skipping event on protein functional features for CPT2

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000371486	3111	658	53675686	53676991	856	2160	113	548

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000371486	3111	658	53675686	53676991	856	2160	113	548

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
P23786	113	548	372	372	Active site	Note=Proton acceptor;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	486	486	Binding site	Note=Carnitine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	488	488	Binding site	Note=Carnitine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	499	499	Binding site	Note=Carnitine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	26	658	Chain	ID=PRO_0000004424;Note=Carnitine O-palmitoyltransferase 2%2C mitochondrial
P23786	113	548	179	208	Intramembrane	Note=Note%3DMitochondrial inner membrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	239	239	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	239	239	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	305	305	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	424	424	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	439	439	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	510	510	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	510	510	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	544	544	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	544	544	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	113	113	Natural variant	ID=VAR_001392;Note=In CPT2D%3B muscular form%3B frequent mutation. S->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:15622536,ECO:0000269\|PubMed:8358442,ECO:0000269\|PubMed:9758712;Db
P23786	113	548	151	151	Natural variant	ID=VAR_020540;Note=In CPT2D. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14605500,ECO:0000269\|PubMed:9758712;Dbxref=dbSNP:rs515726177,PMID:14605500,PMID:9758712
P23786	113	548	174	174	Natural variant	ID=VAR_001393;Note=In CPT2D%3B muscular type. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9600456;Dbxref=dbSNP:rs28936674,PMID:9600456
P23786	113	548	210	210	Natural variant	ID=VAR_020541;Note=In CPT2D. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14605500;Dbxref=PMID:14605500
P23786	113	548	213	213	Natural variant	ID=VAR_037976;Note=In CPT2D. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15622536;Dbxref=dbSNP:rs74315300,PMID:15622536
P23786	113	548	214	214	Natural variant	ID=VAR_007966;Note=In CPT2D. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.17;Dbxref=dbSNP:rs515726174
P23786	113	548	227	227	Natural variant	ID=VAR_007967;Note=In CPT2D. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:9758712,ECO:0000269\|Ref.13;Dbxref=dbSNP:rs74315298,PMID:9758712
P23786	113	548	296	296	Natural variant	ID=VAR_020542;Note=In CPT2D. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14605500,ECO:0000269\|PubMed:14615409;Dbxref=dbSNP:rs764849762,PMID:14605500,PMID:14615409
P23786	113	548	352	352	Natural variant	ID=VAR_001394;Note=Polymorphism associated with susceptibility to IIAE4%3B 3-fold decrease of affinity for L-carnitine%3B lower thermal stability compared to wild-type. F->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:000026
P23786	113	548	368	368	Natural variant	ID=VAR_001395;Note=Common polymorphism associated with susceptibility to IIAE4%3B no effect on activity%3B does not affect affinity for L-carnitine%3B lower thermal stability compared to wild-type. V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,EC
P23786	113	548	383	383	Natural variant	ID=VAR_001396;Note=In CPT2D%3B hepatocardiomuscular form. F->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9600456;Dbxref=dbSNP:rs74315295,PMID:9600456
P23786	113	548	448	448	Natural variant	ID=VAR_007968;Note=In CPT2D. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.17;Dbxref=dbSNP:rs74315297
P23786	113	548	479	479	Natural variant	ID=VAR_007969;Note=In CPT2D. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.17;Dbxref=dbSNP:rs749895856
P23786	113	548	503	503	Natural variant	ID=VAR_007970;Note=In CPT2D. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10090476;Dbxref=dbSNP:rs74315296,PMID:10090476
P23786	113	548	504	504	Natural variant	ID=VAR_066567;Note=In a patient with IIAE4. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18306170;Dbxref=dbSNP:rs368311455,PMID:18306170
P23786	113	548	452	464	Region	Note=Coenzyme A binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	26	178	Topological domain	Note=Mitochondrial matrix;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	209	658	Topological domain	Note=Mitochondrial matrix;Ontology_term=ECO:0000250;evidence=ECO:0000250

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
P23786	113	548	372	372	Active site	Note=Proton acceptor;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	486	486	Binding site	Note=Carnitine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	488	488	Binding site	Note=Carnitine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	499	499	Binding site	Note=Carnitine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	26	658	Chain	ID=PRO_0000004424;Note=Carnitine O-palmitoyltransferase 2%2C mitochondrial
P23786	113	548	179	208	Intramembrane	Note=Note%3DMitochondrial inner membrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	239	239	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	239	239	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	305	305	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	424	424	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	439	439	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	510	510	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	510	510	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	544	544	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	544	544	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P52825
P23786	113	548	113	113	Natural variant	ID=VAR_001392;Note=In CPT2D%3B muscular form%3B frequent mutation. S->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:15622536,ECO:0000269\|PubMed:8358442,ECO:0000269\|PubMed:9758712;Db
P23786	113	548	151	151	Natural variant	ID=VAR_020540;Note=In CPT2D. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14605500,ECO:0000269\|PubMed:9758712;Dbxref=dbSNP:rs515726177,PMID:14605500,PMID:9758712
P23786	113	548	174	174	Natural variant	ID=VAR_001393;Note=In CPT2D%3B muscular type. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9600456;Dbxref=dbSNP:rs28936674,PMID:9600456
P23786	113	548	210	210	Natural variant	ID=VAR_020541;Note=In CPT2D. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14605500;Dbxref=PMID:14605500
P23786	113	548	213	213	Natural variant	ID=VAR_037976;Note=In CPT2D. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15622536;Dbxref=dbSNP:rs74315300,PMID:15622536
P23786	113	548	214	214	Natural variant	ID=VAR_007966;Note=In CPT2D. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.17;Dbxref=dbSNP:rs515726174
P23786	113	548	227	227	Natural variant	ID=VAR_007967;Note=In CPT2D. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:9758712,ECO:0000269\|Ref.13;Dbxref=dbSNP:rs74315298,PMID:9758712
P23786	113	548	296	296	Natural variant	ID=VAR_020542;Note=In CPT2D. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14605500,ECO:0000269\|PubMed:14615409;Dbxref=dbSNP:rs764849762,PMID:14605500,PMID:14615409
P23786	113	548	352	352	Natural variant	ID=VAR_001394;Note=Polymorphism associated with susceptibility to IIAE4%3B 3-fold decrease of affinity for L-carnitine%3B lower thermal stability compared to wild-type. F->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:000026
P23786	113	548	368	368	Natural variant	ID=VAR_001395;Note=Common polymorphism associated with susceptibility to IIAE4%3B no effect on activity%3B does not affect affinity for L-carnitine%3B lower thermal stability compared to wild-type. V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,EC
P23786	113	548	383	383	Natural variant	ID=VAR_001396;Note=In CPT2D%3B hepatocardiomuscular form. F->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9600456;Dbxref=dbSNP:rs74315295,PMID:9600456
P23786	113	548	448	448	Natural variant	ID=VAR_007968;Note=In CPT2D. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.17;Dbxref=dbSNP:rs74315297
P23786	113	548	479	479	Natural variant	ID=VAR_007969;Note=In CPT2D. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.17;Dbxref=dbSNP:rs749895856
P23786	113	548	503	503	Natural variant	ID=VAR_007970;Note=In CPT2D. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10090476;Dbxref=dbSNP:rs74315296,PMID:10090476
P23786	113	548	504	504	Natural variant	ID=VAR_066567;Note=In a patient with IIAE4. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18306170;Dbxref=dbSNP:rs368311455,PMID:18306170
P23786	113	548	452	464	Region	Note=Coenzyme A binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	26	178	Topological domain	Note=Mitochondrial matrix;Ontology_term=ECO:0000250;evidence=ECO:0000250
P23786	113	548	209	658	Topological domain	Note=Mitochondrial matrix;Ontology_term=ECO:0000250;evidence=ECO:0000250

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SNVs in the skipped exons for CPT2

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_6607	53667995	53668101	53668029	53668029	Frame_Shift_Del	G	-	p.G90fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_6610	53675687	53676991	53675889	53675889	Frame_Shift_Del	A	-	p.A181fs
HNSC	TCGA-CX-7082-01	exon_skip_6610	53675687	53676991	53676319	53676319	Frame_Shift_Del	C	-	p.L325fs
LIHC	TCGA-DD-A3A1-01	exon_skip_6610	53675687	53676991	53676428	53676428	Frame_Shift_Del	C	-	p.A361fs
STAD	TCGA-HF-A5NB-01	exon_skip_6610	53675687	53676991	53676493	53676493	Frame_Shift_Del	T	-	p.F384fs
STAD	TCGA-HF-A5NB-01	exon_skip_6610	53675687	53676991	53676493	53676493	Frame_Shift_Del	T	-	p.R382fs
LIHC	TCGA-DD-A1EG-01	exon_skip_6610	53675687	53676991	53676661	53676661	Frame_Shift_Del	A	-	p.K439fs
LIHC	TCGA-DD-A1EG-01	exon_skip_6610	53675687	53676991	53676732	53676732	Frame_Shift_Del	C	-	p.S462fs
LIHC	TCGA-DD-A1EG-01	exon_skip_6610	53675687	53676991	53676855	53676855	Frame_Shift_Del	C	-	p.R503fs
TGCT	TCGA-XE-AAO6-01	exon_skip_6610	53675687	53676991	53676901	53676902	Frame_Shift_Del	GA	-	p.518_519del
TGCT	TCGA-XE-AAO6-01	exon_skip_6610	53675687	53676991	53676901	53676902	Frame_Shift_Del	GA	-	p.E519fs
HNSC	TCGA-CV-A463-01	exon_skip_6610	53675687	53676991	53676523	53676523	Nonsense_Mutation	C	T	p.Q393*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
NCIH596_LUNG	53667995	53668101	53667999	53667999	Missense_Mutation	A	G	p.T80A
MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53667995	53668101	53668003	53668003	Missense_Mutation	A	T	p.E81V
MFE319_ENDOMETRIUM	53675687	53676991	53675713	53675713	Missense_Mutation	G	A	p.A123T
SW626_OVARY	53675687	53676991	53675731	53675731	Missense_Mutation	C	A	p.L129M
HSC39_STOMACH	53675687	53676991	53675801	53675801	Missense_Mutation	C	G	p.A152G
A1207_CENTRAL_NERVOUS_SYSTEM	53675687	53676991	53675828	53675828	Missense_Mutation	G	A	p.R161Q
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53675687	53676991	53675924	53675924	Missense_Mutation	G	A	p.R193H
HCT15_LARGE_INTESTINE	53675687	53676991	53675972	53675972	Missense_Mutation	C	T	p.A209V
CAL51_BREAST	53675687	53676991	53676083	53676083	Missense_Mutation	T	C	p.L246P
JHUEM7_ENDOMETRIUM	53675687	53676991	53676095	53676095	Missense_Mutation	A	C	p.N250T
HEC251_ENDOMETRIUM	53675687	53676991	53676239	53676239	Missense_Mutation	T	G	p.I298S
HCC1833_LUNG	53675687	53676991	53676299	53676299	Missense_Mutation	T	G	p.V318G
SNU685_ENDOMETRIUM	53675687	53676991	53676395	53676395	Missense_Mutation	G	T	p.R350L
LNZ308_CENTRAL_NERVOUS_SYSTEM	53675687	53676991	53676478	53676478	Missense_Mutation	G	C	p.V378L
RH18_SOFT_TISSUE	53675687	53676991	53676742	53676742	Missense_Mutation	G	C	p.V466L
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53675687	53676991	53676794	53676794	Missense_Mutation	T	C	p.V483A
SNU175_LARGE_INTESTINE	53675687	53676991	53676854	53676854	Missense_Mutation	G	A	p.R503H
DJM1_SKIN	53675687	53676991	53676905	53676905	Missense_Mutation	C	T	p.P520L
HS944T_SKIN	53675687	53676991	53676920	53676920	Missense_Mutation	C	G	p.A525G
KM12_LARGE_INTESTINE	53675687	53676991	53676965	53676965	Missense_Mutation	G	T	p.G540V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CPT2

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPT2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPT2

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RelatedDrugs for CPT2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
	P23786	DB00583	Levocarnitine	Carnitine O-palmitoyltransferase 2, mitochondrial	small molecule	approved\|investigational
	P23786	DB01074	Perhexiline	Carnitine O-palmitoyltransferase 2, mitochondrial	small molecule	approved\|investigational

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RelatedDiseases for CPT2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
CPT2	C1833508	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	9	CTD_human;ORPHANET;UNIPROT
CPT2	C1833511	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	2	CTD_human;ORPHANET;UNIPROT
CPT2	C0006112	Brain Diseases, Metabolic	1	CTD_human
CPT2	C0026848	Myopathy	1	CTD_human;HPO

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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