ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for KLC4

Gene summary

Gene information	Gene symbol	KLC4
	Gene ID	89953
	Gene name	kinesin light chain 4
	Synonyms	KNSL8\|bA387M24.3
	Cytomap	6p21.1
	Type of gene	protein-coding
	Description	kinesin light chain 4kinesin-like protein 8
	Modification date	20180522
	UniProtAcc	Q9NSK0
	Context	PubMed: KLC4 [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 KLC4 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 KLC4

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 KLC4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_451884	6	43027390:43027423:43029048:43029331:43030654:43030671	43029048:43029331	ENSG00000137171.10	ENST00000347162.5,ENST00000458460.2
exon_skip_451890	6	43027632:43028014:43028255:43028343:43029048:43029321	43028255:43028343	ENSG00000137171.10	ENST00000394056.2
exon_skip_451895	6	43029048:43029331:43030623:43030885:43033357:43033439	43030623:43030885	ENSG00000137171.10	ENST00000467906.1
exon_skip_451896	6	43029048:43029331:43030654:43030885:43033357:43033439	43030654:43030885	ENSG00000137171.10	ENST00000347162.5,ENST00000458460.2,ENST00000479388.1,ENST00000394058.1,ENST00000481499.1,ENST00000259708.3,ENST00000394056.2
exon_skip_451897	6	43029048:43029331:43030720:43030885:43033357:43033439	43030720:43030885	ENSG00000137171.10	ENST00000470728.1
exon_skip_451900	6	43033357:43033439:43034043:43034263:43034733:43034821	43034043:43034263	ENSG00000137171.10	ENST00000347162.5,ENST00000458460.2,ENST00000453940.2,ENST00000479388.1,ENST00000394058.1,ENST00000470728.1,ENST00000259708.3,ENST00000467906.1,ENST00000394056.2
exon_skip_451902	6	43034817:43034821:43038091:43038193:43038429:43038603	43038091:43038193	ENSG00000137171.10	ENST00000469987.1,ENST00000347162.5,ENST00000453940.2,ENST00000479388.1,ENST00000394058.1,ENST00000259708.3,ENST00000467906.1,ENST00000394056.2
exon_skip_451904	6	43039012:43039112:43039304:43039357:43039589:43039660	43039304:43039357	ENSG00000137171.10	ENST00000347162.5,ENST00000463063.1,ENST00000453940.2,ENST00000479388.1,ENST00000394058.1,ENST00000259708.3,ENST00000394056.2
exon_skip_451906	6	43039304:43039357:43039589:43039660:43039884:43039981	43039589:43039660	ENSG00000137171.10	ENST00000347162.5,ENST00000463063.1,ENST00000453940.2,ENST00000479388.1,ENST00000394058.1,ENST00000259708.3,ENST00000394056.2
exon_skip_451909	6	43040960:43041076:43041639:43041703:43042359:43042646	43041639:43041703	ENSG00000137171.10	ENST00000347162.5,ENST00000453940.2,ENST00000479388.1,ENST00000394058.1,ENST00000259708.3,ENST00000467906.1,ENST00000394056.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for KLC4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_451884	6	43027390:43027423:43029048:43029331:43030654:43030671	43029048:43029331	ENSG00000137171.10	ENST00000347162.5,ENST00000458460.2
exon_skip_451890	6	43027632:43028014:43028255:43028343:43029048:43029321	43028255:43028343	ENSG00000137171.10	ENST00000394056.2
exon_skip_451895	6	43029048:43029331:43030623:43030885:43033357:43033439	43030623:43030885	ENSG00000137171.10	ENST00000467906.1
exon_skip_451896	6	43029048:43029331:43030654:43030885:43033357:43033439	43030654:43030885	ENSG00000137171.10	ENST00000347162.5,ENST00000458460.2,ENST00000259708.3,ENST00000479388.1,ENST00000481499.1,ENST00000394056.2,ENST00000394058.1
exon_skip_451897	6	43029048:43029331:43030720:43030885:43033357:43033439	43030720:43030885	ENSG00000137171.10	ENST00000470728.1
exon_skip_451900	6	43033357:43033439:43034043:43034263:43034733:43034821	43034043:43034263	ENSG00000137171.10	ENST00000467906.1,ENST00000347162.5,ENST00000453940.2,ENST00000470728.1,ENST00000458460.2,ENST00000259708.3,ENST00000479388.1,ENST00000394056.2,ENST00000394058.1
exon_skip_451902	6	43034817:43034821:43038091:43038193:43038429:43038603	43038091:43038193	ENSG00000137171.10	ENST00000467906.1,ENST00000347162.5,ENST00000453940.2,ENST00000259708.3,ENST00000479388.1,ENST00000394056.2,ENST00000394058.1,ENST00000469987.1
exon_skip_451904	6	43039012:43039112:43039304:43039357:43039589:43039660	43039304:43039357	ENSG00000137171.10	ENST00000347162.5,ENST00000453940.2,ENST00000259708.3,ENST00000479388.1,ENST00000394056.2,ENST00000394058.1,ENST00000463063.1
exon_skip_451906	6	43039304:43039357:43039589:43039660:43039884:43039981	43039589:43039660	ENSG00000137171.10	ENST00000347162.5,ENST00000453940.2,ENST00000259708.3,ENST00000479388.1,ENST00000394056.2,ENST00000394058.1,ENST00000463063.1
exon_skip_451909	6	43040960:43041076:43041639:43041703:43042359:43042646	43041639:43041703	ENSG00000137171.10	ENST00000467906.1,ENST00000347162.5,ENST00000453940.2,ENST00000259708.3,ENST00000479388.1,ENST00000394056.2,ENST00000394058.1

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 KLC4

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
ENST00000347162	43029048	43029331	5CDS-5UTR
ENST00000394056	43028255	43028343	5UTR-5UTR
ENST00000347162	43034043	43034263	Frame-shift
ENST00000394056	43034043	43034263	Frame-shift
ENST00000479388	43034043	43034263	Frame-shift
ENST00000347162	43039304	43039357	Frame-shift
ENST00000394056	43039304	43039357	Frame-shift
ENST00000479388	43039304	43039357	Frame-shift
ENST00000347162	43039589	43039660	Frame-shift
ENST00000394056	43039589	43039660	Frame-shift
ENST00000479388	43039589	43039660	Frame-shift
ENST00000347162	43041639	43041703	Frame-shift
ENST00000394056	43041639	43041703	Frame-shift
ENST00000479388	43041639	43041703	Frame-shift
ENST00000347162	43030654	43030885	In-frame
ENST00000394056	43030654	43030885	In-frame
ENST00000479388	43030654	43030885	In-frame
ENST00000347162	43038091	43038193	In-frame
ENST00000394056	43038091	43038193	In-frame
ENST00000479388	43038091	43038193	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
ENST00000347162	43029048	43029331	5CDS-5UTR
ENST00000394056	43028255	43028343	5UTR-5UTR
ENST00000347162	43034043	43034263	Frame-shift
ENST00000394056	43034043	43034263	Frame-shift
ENST00000479388	43034043	43034263	Frame-shift
ENST00000347162	43039304	43039357	Frame-shift
ENST00000394056	43039304	43039357	Frame-shift
ENST00000479388	43039304	43039357	Frame-shift
ENST00000347162	43039589	43039660	Frame-shift
ENST00000394056	43039589	43039660	Frame-shift
ENST00000479388	43039589	43039660	Frame-shift
ENST00000347162	43041639	43041703	Frame-shift
ENST00000394056	43041639	43041703	Frame-shift
ENST00000479388	43041639	43041703	Frame-shift
ENST00000347162	43030654	43030885	In-frame
ENST00000394056	43030654	43030885	In-frame
ENST00000479388	43030654	43030885	In-frame
ENST00000347162	43038091	43038193	In-frame
ENST00000394056	43038091	43038193	In-frame
ENST00000479388	43038091	43038193	In-frame

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Infer the effects of exon skipping event on protein functional features for KLC4

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
ENST00000347162	2421	619	43030654	43030885	376	606	86	163
ENST00000394056	2787	619	43030654	43030885	754	984	86	163
ENST00000479388	2619	619	43030654	43030885	584	814	86	163
ENST00000347162	2421	619	43038091	43038193	997	1098	293	327
ENST00000394056	2787	619	43038091	43038193	1375	1476	293	327
ENST00000479388	2619	619	43038091	43038193	1205	1306	293	327

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
ENST00000347162	2421	619	43030654	43030885	376	606	86	163
ENST00000394056	2787	619	43030654	43030885	754	984	86	163
ENST00000479388	2619	619	43030654	43030885	584	814	86	163
ENST00000347162	2421	619	43038091	43038193	997	1098	293	327
ENST00000394056	2787	619	43038091	43038193	1375	1476	293	327
ENST00000479388	2619	619	43038091	43038193	1205	1306	293	327

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
Q9NSK0	86	163	87	163	Alternative sequence	ID=VSP_057231;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	163	Alternative sequence	ID=VSP_057231;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	163	Alternative sequence	ID=VSP_057231;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	131	Alternative sequence	ID=VSP_037875;Note=In isoform 2. VMLALASHLSTVESEKQKLRAQVRRLCQENQWLRDELAGTQQRLQ->NLELRGCAHLGDAGSSQPPEHSGVGETEAAGSGAAAMPGEPVAAG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	131	Alternative sequence	ID=VSP_037875;Note=In isoform 2. VMLALASHLSTVESEKQKLRAQVRRLCQENQWLRDELAGTQQRLQ->NLELRGCAHLGDAGSSQPPEHSGVGETEAAGSGAAAMPGEPVAAG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	131	Alternative sequence	ID=VSP_037875;Note=In isoform 2. VMLALASHLSTVESEKQKLRAQVRRLCQENQWLRDELAGTQQRLQ->NLELRGCAHLGDAGSSQPPEHSGVGETEAAGSGAAAMPGEPVAAG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	86	163	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	86	163	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	86	163	32	150	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NSK0	86	163	32	150	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NSK0	86	163	32	150	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NSK0	86	163	55	88	Repeat	Note=TPR 1
Q9NSK0	86	163	55	88	Repeat	Note=TPR 1
Q9NSK0	86	163	55	88	Repeat	Note=TPR 1
Q9NSK0	293	327	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	293	327	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	293	327	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	293	327	295	315	Alternative sequence	ID=VSP_043324;Note=In isoform 4. AATLNNLAVLYGKRGKYKEAE->SIPCPPHPTPRTPHHCCFGLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	295	315	Alternative sequence	ID=VSP_043324;Note=In isoform 4. AATLNNLAVLYGKRGKYKEAE->SIPCPPHPTPRTPHHCCFGLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	295	315	Alternative sequence	ID=VSP_043324;Note=In isoform 4. AATLNNLAVLYGKRGKYKEAE->SIPCPPHPTPRTPHHCCFGLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	316	619	Alternative sequence	ID=VSP_043325;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	316	619	Alternative sequence	ID=VSP_043325;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	316	619	Alternative sequence	ID=VSP_043325;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	293	327	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	293	327	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	293	327	295	328	Repeat	Note=TPR 4
Q9NSK0	293	327	295	328	Repeat	Note=TPR 4
Q9NSK0	293	327	295	328	Repeat	Note=TPR 4

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
Q9NSK0	86	163	87	163	Alternative sequence	ID=VSP_057231;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	163	Alternative sequence	ID=VSP_057231;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	163	Alternative sequence	ID=VSP_057231;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	131	Alternative sequence	ID=VSP_037875;Note=In isoform 2. VMLALASHLSTVESEKQKLRAQVRRLCQENQWLRDELAGTQQRLQ->NLELRGCAHLGDAGSSQPPEHSGVGETEAAGSGAAAMPGEPVAAG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	131	Alternative sequence	ID=VSP_037875;Note=In isoform 2. VMLALASHLSTVESEKQKLRAQVRRLCQENQWLRDELAGTQQRLQ->NLELRGCAHLGDAGSSQPPEHSGVGETEAAGSGAAAMPGEPVAAG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	87	131	Alternative sequence	ID=VSP_037875;Note=In isoform 2. VMLALASHLSTVESEKQKLRAQVRRLCQENQWLRDELAGTQQRLQ->NLELRGCAHLGDAGSSQPPEHSGVGETEAAGSGAAAMPGEPVAAG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	86	163	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	86	163	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	86	163	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	86	163	32	150	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NSK0	86	163	32	150	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NSK0	86	163	32	150	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NSK0	86	163	55	88	Repeat	Note=TPR 1
Q9NSK0	86	163	55	88	Repeat	Note=TPR 1
Q9NSK0	86	163	55	88	Repeat	Note=TPR 1
Q9NSK0	293	327	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	293	327	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	293	327	132	619	Alternative sequence	ID=VSP_037876;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NSK0	293	327	295	315	Alternative sequence	ID=VSP_043324;Note=In isoform 4. AATLNNLAVLYGKRGKYKEAE->SIPCPPHPTPRTPHHCCFGLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	295	315	Alternative sequence	ID=VSP_043324;Note=In isoform 4. AATLNNLAVLYGKRGKYKEAE->SIPCPPHPTPRTPHHCCFGLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	295	315	Alternative sequence	ID=VSP_043324;Note=In isoform 4. AATLNNLAVLYGKRGKYKEAE->SIPCPPHPTPRTPHHCCFGLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	316	619	Alternative sequence	ID=VSP_043325;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	316	619	Alternative sequence	ID=VSP_043325;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	316	619	Alternative sequence	ID=VSP_043325;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NSK0	293	327	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	293	327	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	293	327	2	619	Chain	ID=PRO_0000215097;Note=Kinesin light chain 4
Q9NSK0	293	327	295	328	Repeat	Note=TPR 4
Q9NSK0	293	327	295	328	Repeat	Note=TPR 4
Q9NSK0	293	327	295	328	Repeat	Note=TPR 4

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SNVs in the skipped exons for KLC4

- 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
BRCA	TCGA-AO-A0JG-01	exon_skip_451900	43034044	43034263	43034120	43034120	Frame_Shift_Del	C	-	p.L235fs
LIHC	TCGA-DD-A3A0-01	exon_skip_451906	43039590	43039660	43039608	43039608	Frame_Shift_Del	G	-	p.G443fs
KIRP	TCGA-B9-A44B-01	exon_skip_451909	43041640	43041703	43041642	43041643	Frame_Shift_Ins	-	CAACACGA	p.S601fs
SKCM	TCGA-IH-A3EA-01	exon_skip_451884	43029049	43029331	43029218	43029218	Nonsense_Mutation	C	T	p.Q49*
SKCM	TCGA-IH-A3EA-01	exon_skip_451884	43029049	43029331	43029218	43029218	Nonsense_Mutation	C	T	p.Q49X
HNSC	TCGA-D6-A6EK-01	exon_skip_451895 exon_skip_451896	43030624	43030885	43030739	43030739	Nonsense_Mutation	G	T	p.E115*
HNSC	TCGA-D6-A6EK-01	exon_skip_451895 exon_skip_451896	43030655	43030885	43030739	43030739	Nonsense_Mutation	G	T	p.E115*
HNSC	TCGA-D6-A6EK-01	exon_skip_451897	43030721	43030885	43030739	43030739	Nonsense_Mutation	G	T	p.E115*

- 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
SW48_LARGE_INTESTINE	43039590	43039660	43039643	43039643	Frame_Shift_Del	G	-	p.K454fs
HCT15_LARGE_INTESTINE	43029049	43029331	43029084	43029084	Missense_Mutation	T	G	p.L4R
HCC2450_LUNG	43029049	43029331	43029120	43029120	Missense_Mutation	G	A	p.R16Q
MM370_SKIN	43029049	43029331	43029167	43029168	Missense_Mutation	GG	AA	p.G32K
EN_ENDOMETRIUM	43029049	43029331	43029171	43029171	Missense_Mutation	T	C	p.L33P
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43029049	43029331	43029182	43029182	Missense_Mutation	C	T	p.R37C
HEC108_ENDOMETRIUM	43029049	43029331	43029183	43029183	Missense_Mutation	G	A	p.R37H
HO1N1_UPPER_AERODIGESTIVE_TRACT	43029049	43029331	43029183	43029183	Missense_Mutation	G	A	p.R37H
SW620_LARGE_INTESTINE	43030624	43030885	43030670	43030670	Missense_Mutation	G	T	p.A92S
SW620_LARGE_INTESTINE	43030655	43030885	43030670	43030670	Missense_Mutation	G	T	p.A92S
NCIH128_LUNG	43030624	43030885	43030713	43030713	Missense_Mutation	G	T	p.R106L
NCIH128_LUNG	43030655	43030885	43030713	43030713	Missense_Mutation	G	T	p.R106L
SNGM_ENDOMETRIUM	43030721	43030885	43030724	43030724	Missense_Mutation	C	T	p.R110W
SNGM_ENDOMETRIUM	43030624	43030885	43030724	43030724	Missense_Mutation	C	T	p.R110W
SNGM_ENDOMETRIUM	43030655	43030885	43030724	43030724	Missense_Mutation	C	T	p.R110W
DAOY_CENTRAL_NERVOUS_SYSTEM	43030721	43030885	43030755	43030755	Missense_Mutation	G	A	p.R120Q
DAOY_CENTRAL_NERVOUS_SYSTEM	43030624	43030885	43030755	43030755	Missense_Mutation	G	A	p.R120Q
DAOY_CENTRAL_NERVOUS_SYSTEM	43030655	43030885	43030755	43030755	Missense_Mutation	G	A	p.R120Q
A2058_SKIN	43030721	43030885	43030755	43030755	Missense_Mutation	G	A	p.R120Q
A2058_SKIN	43030624	43030885	43030755	43030755	Missense_Mutation	G	A	p.R120Q
A2058_SKIN	43030655	43030885	43030755	43030755	Missense_Mutation	G	A	p.R120Q
HCC2450_LUNG	43034044	43034263	43034078	43034078	Missense_Mutation	G	T	p.Q202H
SKMEL1_SKIN	43034044	43034263	43034149	43034149	Missense_Mutation	G	A	p.R226H
NCIH28_PLEURA	43034044	43034263	43034154	43034154	Missense_Mutation	G	A	p.E228K
IALM_LUNG	43034044	43034263	43034157	43034157	Missense_Mutation	G	T	p.V229L
HEC265_ENDOMETRIUM	43034044	43034263	43034199	43034199	Missense_Mutation	C	T	p.R243C
MDAMB453_BREAST	43038092	43038193	43038135	43038135	Missense_Mutation	G	A	p.R308K
NCIH740_LUNG	43038092	43038193	43038136	43038136	Missense_Mutation	G	T	p.R308S
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43038092	43038193	43038171	43038171	Missense_Mutation	G	A	p.R320Q
COLO741_SKIN	43041640	43041703	43041644	43041644	Missense_Mutation	A	G	p.N584D
LNCAPCLONEFGC_PROSTATE	43041640	43041703	43041665	43041665	Missense_Mutation	T	A	p.L591M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLC4

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 KLC4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLC4

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RelatedDrugs for KLC4

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

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RelatedDiseases for KLC4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	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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Gene summary for KLC4

Exon skipping events across known transcript of Ensembl for KLC4 from UCSC genome browser

Gene isoform structures and expression levels for KLC4

Exon skipping events with PSIs in TCGA for KLC4

Exon skipping events with PSIs in GTEx for KLC4

Open reading frame (ORF) annotation in the exon skipping event for KLC4

Infer the effects of exon skipping event on protein functional features for KLC4

SNVs in the skipped exons for KLC4

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLC4

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLC4

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLC4

RelatedDrugs for KLC4

RelatedDiseases for KLC4