ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CDK4

Gene summary

Gene information	Gene symbol	CDK4
	Gene ID	1019
	Gene name	cyclin dependent kinase 4
	Synonyms	CMM3\|PSK-J3
	Cytomap	12q14.1
	Type of gene	protein-coding
	Description	cyclin-dependent kinase 4cell division protein kinase 4
	Modification date	20180523
	UniProtAcc	P11802
	Context	PubMed: CDK4 [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
CDK4	GO:0006468	protein phosphorylation	8114739
CDK4	GO:0010971	positive regulation of G2/M transition of mitotic cell cycle	19124461
CDK4	GO:0071157	negative regulation of cell cycle arrest	19124461

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Exon skipping events across known transcript of Ensembl for CDK4 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 CDK4

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 CDK4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_94258	12	58142373:58142400:58142964:58143100:58143236:58143287	58142964:58143100	ENSG00000135446.12	ENST00000540325.1,ENST00000257904.6,ENST00000546489.1,ENST00000312990.6,ENST00000553237.1,ENST00000549606.1,ENST00000552713.1
exon_skip_94276	12	58143016:58143100:58143236:58143287:58145957:58146059	58143236:58143287	ENSG00000135446.12	ENST00000549606.1
exon_skip_94292	12	58143236:58143287:58144224:58144346:58144705:58144873	58144224:58144346	ENSG00000135446.12	ENST00000550419.1
exon_skip_94295	12	58143236:58143287:58144438:58144548:58144705:58144873	58144438:58144548	ENSG00000135446.12	ENST00000540325.1,ENST00000257904.6,ENST00000546489.1,ENST00000553237.1,ENST00000547281.1
exon_skip_94328	12	58144461:58144548:58144705:58144873:58144989:58145125	58144705:58144873	ENSG00000135446.12	ENST00000257904.6,ENST00000551800.1,ENST00000546489.1,ENST00000552254.1,ENST00000547281.1
exon_skip_94329	12	58144461:58144548:58144705:58144873:58145282:58145442	58144705:58144873	ENSG00000135446.12	ENST00000540325.1,ENST00000553237.1
exon_skip_94347	12	58144716:58144873:58144989:58145125:58145282:58145417	58144989:58145125	ENSG00000135446.12	ENST00000257904.6,ENST00000551800.1,ENST00000550419.1,ENST00000552388.1,ENST00000552254.1,ENST00000547281.1
exon_skip_94349	12	58144720:58144873:58144989:58145125:58145957:58146059	58144989:58145125	ENSG00000135446.12	ENST00000546489.1
exon_skip_94352	12	58144720:58144873:58144989:58145519:58145957:58146059	58144989:58145519	ENSG00000135446.12	ENST00000551706.1
exon_skip_94357	12	58144720:58144873:58145282:58145519:58145957:58146059	58145282:58145519	ENSG00000135446.12	ENST00000540325.1,ENST00000553237.1
exon_skip_94361	12	58145079:58145125:58145282:58145442:58145957:58146059	58145282:58145442	ENSG00000135446.12	ENST00000547281.1
exon_skip_94363	12	58145079:58145125:58145282:58145479:58145957:58146132	58145282:58145479	ENSG00000135446.12	ENST00000551800.1
exon_skip_94364	12	58145079:58145125:58145282:58145519:58145957:58146059	58145282:58145519	ENSG00000135446.12	ENST00000312990.6,ENST00000550419.1,ENST00000551888.1
exon_skip_94365	12	58145079:58145125:58145282:58145535:58145957:58146059	58145282:58145535	ENSG00000135446.12	ENST00000552388.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CDK4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_94258	12	58142373:58142400:58142964:58143100:58143236:58143287	58142964:58143100	ENSG00000135446.12	ENST00000257904.6,ENST00000312990.6,ENST00000552713.1,ENST00000549606.1,ENST00000553237.1,ENST00000540325.1,ENST00000546489.1
exon_skip_94276	12	58143016:58143100:58143236:58143287:58145957:58146059	58143236:58143287	ENSG00000135446.12	ENST00000549606.1
exon_skip_94292	12	58143236:58143287:58144224:58144346:58144705:58144873	58144224:58144346	ENSG00000135446.12	ENST00000550419.1
exon_skip_94295	12	58143236:58143287:58144438:58144548:58144705:58144873	58144438:58144548	ENSG00000135446.12	ENST00000257904.6,ENST00000553237.1,ENST00000540325.1,ENST00000546489.1,ENST00000547281.1
exon_skip_94328	12	58144461:58144548:58144705:58144873:58144989:58145125	58144705:58144873	ENSG00000135446.12	ENST00000257904.6,ENST00000546489.1,ENST00000547281.1,ENST00000551800.1,ENST00000552254.1
exon_skip_94329	12	58144461:58144548:58144705:58144873:58145282:58145442	58144705:58144873	ENSG00000135446.12	ENST00000553237.1,ENST00000540325.1
exon_skip_94347	12	58144716:58144873:58144989:58145125:58145282:58145417	58144989:58145125	ENSG00000135446.12	ENST00000257904.6,ENST00000547281.1,ENST00000550419.1,ENST00000551800.1,ENST00000552254.1,ENST00000552388.1
exon_skip_94349	12	58144720:58144873:58144989:58145125:58145957:58146059	58144989:58145125	ENSG00000135446.12	ENST00000546489.1
exon_skip_94352	12	58144720:58144873:58144989:58145519:58145957:58146059	58144989:58145519	ENSG00000135446.12	ENST00000551706.1
exon_skip_94357	12	58144720:58144873:58145282:58145519:58145957:58146059	58145282:58145519	ENSG00000135446.12	ENST00000553237.1,ENST00000540325.1
exon_skip_94361	12	58145079:58145125:58145282:58145442:58145957:58146059	58145282:58145442	ENSG00000135446.12	ENST00000547281.1
exon_skip_94363	12	58145079:58145125:58145282:58145479:58145957:58146132	58145282:58145479	ENSG00000135446.12	ENST00000551800.1
exon_skip_94364	12	58145079:58145125:58145282:58145519:58145957:58146059	58145282:58145519	ENSG00000135446.12	ENST00000312990.6,ENST00000551888.1,ENST00000550419.1
exon_skip_94365	12	58145079:58145125:58145282:58145535:58145957:58146059	58145282:58145535	ENSG00000135446.12	ENST00000552388.1

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 CDK4

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
ENST00000257904	58142964	58143100	Frame-shift
ENST00000257904	58144438	58144548	Frame-shift
ENST00000257904	58144989	58145125	Frame-shift
ENST00000257904	58144705	58144873	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
ENST00000257904	58142964	58143100	Frame-shift
ENST00000257904	58144438	58144548	Frame-shift
ENST00000257904	58144989	58145125	Frame-shift
ENST00000257904	58144705	58144873	In-frame

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Infer the effects of exon skipping event on protein functional features for CDK4

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
ENST00000257904	2093	303	58144705	58144873	721	888	118	174

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
ENST00000257904	2093	303	58144705	58144873	721	888	118	174

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
P11802	118	174	140	140	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159,ECO:0000255\|PROSITE-ProRule:PRU10027
P11802	118	174	1	120	Alternative sequence	ID=VSP_056487;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P11802	118	174	146	148	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	154	156	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	2	303	Chain	ID=PRO_0000085778;Note=Cyclin-dependent kinase 4
P11802	118	174	6	295	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P11802	118	174	114	133	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	162	169	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	172	175	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3G33
P11802	118	174	172	172	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PubMed:19369195,ECO:0000269\|PubMed:16782892,ECO:0000269\|PubMed:19237555,ECO:0000269\|PubMed:19237565,ECO:0000269\|PubMed:19487459;Dbxref=PMI
P11802	118	174	172	172	Mutagenesis	Note=Weak enzyme activity towards RB1%2C but no effect on binding of CCDN1 nor CCDN3. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16782892;Dbxref=PMID:16782892
P11802	118	174	172	172	Mutagenesis	Note=Retains moderate enzyme activity. T->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16782892;Dbxref=PMID:16782892
P11802	118	174	173	173	Mutagenesis	Note=No effect on in vitro phosphorylation by CDK7. Greatly reduced T-172 phosphorylation and enzyme activity. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19487459;Dbxref=PMID:19487459
P11802	118	174	122	122	Natural variant	ID=VAR_041976;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34386532,PMID:17344846
P11802	118	174	143	145	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	150	152	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W9Z

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
P11802	118	174	140	140	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159,ECO:0000255\|PROSITE-ProRule:PRU10027
P11802	118	174	1	120	Alternative sequence	ID=VSP_056487;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P11802	118	174	146	148	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	154	156	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	2	303	Chain	ID=PRO_0000085778;Note=Cyclin-dependent kinase 4
P11802	118	174	6	295	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P11802	118	174	114	133	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	162	169	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	172	175	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3G33
P11802	118	174	172	172	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PubMed:19369195,ECO:0000269\|PubMed:16782892,ECO:0000269\|PubMed:19237555,ECO:0000269\|PubMed:19237565,ECO:0000269\|PubMed:19487459;Dbxref=PMI
P11802	118	174	172	172	Mutagenesis	Note=Weak enzyme activity towards RB1%2C but no effect on binding of CCDN1 nor CCDN3. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16782892;Dbxref=PMID:16782892
P11802	118	174	172	172	Mutagenesis	Note=Retains moderate enzyme activity. T->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16782892;Dbxref=PMID:16782892
P11802	118	174	173	173	Mutagenesis	Note=No effect on in vitro phosphorylation by CDK7. Greatly reduced T-172 phosphorylation and enzyme activity. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19487459;Dbxref=PMID:19487459
P11802	118	174	122	122	Natural variant	ID=VAR_041976;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34386532,PMID:17344846
P11802	118	174	143	145	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W96
P11802	118	174	150	152	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2W9Z

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SNVs in the skipped exons for CDK4

- 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.

CDK4_HNSC_exon_skip_94352_psi_boxplot.png
boxplot

CDK4_LIHC_exon_skip_94352_psi_boxplot.png
boxplot

- 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-G3-A3CJ-01	exon_skip_94352	58144990	58145519	58145303	58145303	Frame_Shift_Del	A	-	p.F66fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_94361	58145283	58145442	58145303	58145303	Frame_Shift_Del	A	-	p.F66fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_94363	58145283	58145479	58145303	58145303	Frame_Shift_Del	A	-	p.F66fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_94357 exon_skip_94364	58145283	58145519	58145303	58145303	Frame_Shift_Del	A	-	p.F66fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_94365	58145283	58145535	58145303	58145303	Frame_Shift_Del	A	-	p.F66fs
HNSC	TCGA-CQ-A4CD-01	exon_skip_94352	58144990	58145519	58145293	58145294	Frame_Shift_Ins	-	G	p.C70fs
HNSC	TCGA-CQ-A4CD-01	exon_skip_94361	58145283	58145442	58145293	58145294	Frame_Shift_Ins	-	G	p.C70fs
HNSC	TCGA-CQ-A4CD-01	exon_skip_94363	58145283	58145479	58145293	58145294	Frame_Shift_Ins	-	G	p.C70fs
HNSC	TCGA-CQ-A4CD-01	exon_skip_94357 exon_skip_94364	58145283	58145519	58145293	58145294	Frame_Shift_Ins	-	G	p.C70fs
HNSC	TCGA-CQ-A4CD-01	exon_skip_94365	58145283	58145535	58145293	58145294	Frame_Shift_Ins	-	G	p.C70fs

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CQ-A4CD-01
	Cancer type: HNSC
	ESID: exon_skip_94363
	Skipped exon start: 58145283
	Skipped exon end: 58145479
	Mutation start: 58145293
	Mutation end: 58145294
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.C70fs
	Sample: TCGA-CQ-A4CD-01
	Cancer type: HNSC
	ESID: exon_skip_94364
	Skipped exon start: 58145283
	Skipped exon end: 58145519
	Mutation start: 58145293
	Mutation end: 58145294
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.C70fs
	Sample: TCGA-CQ-A4CD-01
	Cancer type: HNSC
	ESID: exon_skip_94352
	Skipped exon start: 58144990
	Skipped exon end: 58145519
	Mutation start: 58145293
	Mutation end: 58145294
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.C70fs
	Sample: TCGA-CQ-A4CD-01
	Cancer type: HNSC
	ESID: exon_skip_94361
	Skipped exon start: 58145283
	Skipped exon end: 58145442
	Mutation start: 58145293
	Mutation end: 58145294
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.C70fs
	Sample: TCGA-CQ-A4CD-01
	Cancer type: HNSC
	ESID: exon_skip_94365
	Skipped exon start: 58145283
	Skipped exon end: 58145535
	Mutation start: 58145293
	Mutation end: 58145294
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.C70fs
exon_skip_94352_HNSC_TCGA-CQ-A4CD-01.png
exon_skip_94713_HNSC_TCGA-CQ-A4CD-01.png

- 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
NUGC3_STOMACH	58142965	58143100	58143048	58143048	Frame_Shift_Del	G	-	p.R246fs
SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58142965	58143100	58142981	58142981	Missense_Mutation	C	T	p.G268E
LS411N_LARGE_INTESTINE	58142965	58143100	58143044	58143044	Missense_Mutation	C	T	p.G247E
HCC2998_LARGE_INTESTINE	58144439	58144548	58144442	58144442	Missense_Mutation	C	T	p.R210Q
LNCAPCLONEFGC_PROSTATE	58144990	58145125	58145015	58145015	Missense_Mutation	G	A	p.P110L
LNCAPCLONEFGC_PROSTATE	58144990	58145519	58145015	58145015	Missense_Mutation	G	A	p.P110L
HCC2998_LARGE_INTESTINE	58144990	58145125	58145099	58145099	Missense_Mutation	C	T	p.R82Q
HCC2998_LARGE_INTESTINE	58144990	58145519	58145099	58145099	Missense_Mutation	C	T	p.R82Q
NBTU110_AUTONOMIC_GANGLIA	58145283	58145479	58145367	58145367	Missense_Mutation	C	T	p.G45D
NBTU110_AUTONOMIC_GANGLIA	58145283	58145519	58145367	58145367	Missense_Mutation	C	T	p.G45D
NBTU110_AUTONOMIC_GANGLIA	58144990	58145519	58145367	58145367	Missense_Mutation	C	T	p.G45D
NBTU110_AUTONOMIC_GANGLIA	58145283	58145442	58145367	58145367	Missense_Mutation	C	T	p.G45D
NBTU110_AUTONOMIC_GANGLIA	58145283	58145535	58145367	58145367	Missense_Mutation	C	T	p.G45D
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58145283	58145479	58145404	58145404	Missense_Mutation	C	G	p.A33P
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58145283	58145519	58145404	58145404	Missense_Mutation	C	G	p.A33P
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58144990	58145519	58145404	58145404	Missense_Mutation	C	G	p.A33P
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58145283	58145442	58145404	58145404	Missense_Mutation	C	G	p.A33P
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58145283	58145535	58145404	58145404	Missense_Mutation	C	G	p.A33P
ISTMEL1_SKIN	58145283	58145479	58145430	58145430	Missense_Mutation	C	T	p.R24H
ISTMEL1_SKIN	58145283	58145519	58145430	58145430	Missense_Mutation	C	T	p.R24H
ISTMEL1_SKIN	58144990	58145519	58145430	58145430	Missense_Mutation	C	T	p.R24H
ISTMEL1_SKIN	58145283	58145442	58145430	58145430	Missense_Mutation	C	T	p.R24H
ISTMEL1_SKIN	58145283	58145535	58145430	58145430	Missense_Mutation	C	T	p.R24H
COLO794_SKIN	58145283	58145479	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO794_SKIN	58145283	58145519	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO794_SKIN	58144990	58145519	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO794_SKIN	58145283	58145442	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO794_SKIN	58145283	58145535	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO800_SKIN	58145283	58145479	58145431	58145431	Missense_Mutation	G	A	p.R24C
COLO800_SKIN	58145283	58145519	58145431	58145431	Missense_Mutation	G	A	p.R24C
COLO800_SKIN	58144990	58145519	58145431	58145431	Missense_Mutation	G	A	p.R24C
COLO800_SKIN	58145283	58145442	58145431	58145431	Missense_Mutation	G	A	p.R24C
COLO800_SKIN	58145283	58145535	58145431	58145431	Missense_Mutation	G	A	p.R24C
SKMEL28_SKIN	58145283	58145479	58145431	58145431	Missense_Mutation	G	A	p.R24C
SKMEL28_SKIN	58145283	58145519	58145431	58145431	Missense_Mutation	G	A	p.R24C
SKMEL28_SKIN	58144990	58145519	58145431	58145431	Missense_Mutation	G	A	p.R24C
SKMEL28_SKIN	58145283	58145442	58145431	58145431	Missense_Mutation	G	A	p.R24C
SKMEL28_SKIN	58145283	58145535	58145431	58145431	Missense_Mutation	G	A	p.R24C
COLO800_SKIN	58145283	58145479	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO800_SKIN	58145283	58145519	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO800_SKIN	58144990	58145519	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO800_SKIN	58145283	58145442	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO800_SKIN	58145283	58145535	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO818_SKIN	58145283	58145479	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO818_SKIN	58145283	58145519	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO818_SKIN	58144990	58145519	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO818_SKIN	58145283	58145442	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
COLO818_SKIN	58145283	58145535	58145431	58145432	Missense_Mutation	GG	AT	p.R24C
LN464_CENTRAL_NERVOUS_SYSTEM	58145283	58145479	58145437	58145437	Missense_Mutation	T	G	p.K22Q
LN464_CENTRAL_NERVOUS_SYSTEM	58145283	58145519	58145437	58145437	Missense_Mutation	T	G	p.K22Q
LN464_CENTRAL_NERVOUS_SYSTEM	58144990	58145519	58145437	58145437	Missense_Mutation	T	G	p.K22Q
LN464_CENTRAL_NERVOUS_SYSTEM	58145283	58145442	58145437	58145437	Missense_Mutation	T	G	p.K22Q
LN464_CENTRAL_NERVOUS_SYSTEM	58145283	58145535	58145437	58145437	Missense_Mutation	T	G	p.K22Q
WM793_SKIN	58145283	58145479	58145437	58145437	Missense_Mutation	T	G	p.K22Q
WM793_SKIN	58145283	58145519	58145437	58145437	Missense_Mutation	T	G	p.K22Q
WM793_SKIN	58144990	58145519	58145437	58145437	Missense_Mutation	T	G	p.K22Q
WM793_SKIN	58145283	58145442	58145437	58145437	Missense_Mutation	T	G	p.K22Q
WM793_SKIN	58145283	58145535	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ES2_OVARY	58145283	58145479	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ES2_OVARY	58145283	58145519	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ES2_OVARY	58144990	58145519	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ES2_OVARY	58145283	58145442	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ES2_OVARY	58145283	58145535	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ACN_AUTONOMIC_GANGLIA	58145283	58145479	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ACN_AUTONOMIC_GANGLIA	58145283	58145519	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ACN_AUTONOMIC_GANGLIA	58144990	58145519	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ACN_AUTONOMIC_GANGLIA	58145283	58145442	58145437	58145437	Missense_Mutation	T	G	p.K22Q
ACN_AUTONOMIC_GANGLIA	58145283	58145535	58145437	58145437	Missense_Mutation	T	G	p.K22Q
NCIH650_LUNG	58145283	58145479	58145469	58145469	Missense_Mutation	T	C	p.E11G
NCIH650_LUNG	58145283	58145519	58145469	58145469	Missense_Mutation	T	C	p.E11G
NCIH650_LUNG	58144990	58145519	58145469	58145469	Missense_Mutation	T	C	p.E11G
NCIH650_LUNG	58145283	58145535	58145469	58145469	Missense_Mutation	T	C	p.E11G
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58144990	58145125	58145124	58145124	Splice_Site	G	A	p.L74L
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58144990	58145519	58145124	58145124	Splice_Site	G	A	p.L74L
NCIH524_LUNG	58145283	58145519	58145498	58145498	Start_Codon_SNP	C	A	p.M1I
NCIH524_LUNG	58144990	58145519	58145498	58145498	Start_Codon_SNP	C	A	p.M1I
NCIH524_LUNG	58145283	58145535	58145498	58145498	Start_Codon_SNP	C	A	p.M1I

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDK4

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 CDK4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDK4

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RelatedDrugs for CDK4

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
	P11802	DB09073	Palbociclib	Cyclin-dependent kinase 4	small molecule	approved\|investigational
	P11802	DB11730	Ribociclib	Cyclin-dependent kinase 4	small molecule	approved\|investigational
	P11802	DB12001	Abemaciclib	Cyclin-dependent kinase 4	small molecule	approved\|investigational
	P11802	DB12010	Fostamatinib	Cyclin-dependent kinase 4	small molecule	approved\|investigational

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RelatedDiseases for CDK4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
CDK4	C0024668	Mammary Neoplasms, Experimental	3	CTD_human
CDK4	C1836892	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3	3	CTD_human;UNIPROT
CDK4	C0023827	liposarcoma	2	CTD_human
CDK4	C0024667	Animal Mammary Neoplasms	2	CTD_human
CDK4	C0006118	Brain Neoplasms	1	CTD_human
CDK4	C0027659	Neoplasms, Experimental	1	CTD_human
CDK4	C0038356	Stomach Neoplasms	1	CTD_human
CDK4	C0677866	Brain Stem Neoplasms	1	CTD_human
CDK4	C2239176	Liver carcinoma	1	CTD_human

	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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