ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for KIAA0100

Gene summary

Gene information	Gene symbol	KIAA0100
	Gene ID	9703
	Gene name	KIAA0100
	Synonyms	BCOX\|BCOX1\|CT101\|FMP27
	Cytomap	17q11.2
	Type of gene	protein-coding
	Description	protein KIAA0100U937-associated antigenantigen MLAA-22breast cancer overexpressed gene 1breast cancer-overexpressed gene 1 proteincancer/testis antigen 101
	Modification date	20180519
	UniProtAcc	Q14667
	Context	PubMed: KIAA0100 [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 KIAA0100 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 KIAA0100

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 KIAA0100

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_287516	17	26941899:26942264:26942681:26942816:26943113:26943215	26942681:26942816	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1
exon_skip_287518	17	26942681:26942816:26943113:26943215:26943396:26943527	26943113:26943215	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1
exon_skip_287522	17	26943684:26943771:26943906:26944017:26944249:26944336	26943906:26944017	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1
exon_skip_287523	17	26943906:26944017:26944249:26944336:26945808:26945989	26944249:26944336	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1
exon_skip_287525	17	26946877:26947033:26947526:26947648:26948005:26948188	26947526:26947648	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1
exon_skip_287527	17	26948416:26948516:26950777:26950984:26951250:26951408	26950777:26950984	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1
exon_skip_287532	17	26951250:26951408:26955282:26955577:26958496:26958696	26955282:26955577	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1
exon_skip_287535	17	26959959:26960180:26960300:26960347:26960566:26960671	26960300:26960347	ENSG00000007202.10	ENST00000577261.1
exon_skip_287536	17	26959959:26960180:26960300:26960419:26960566:26960671	26960300:26960419	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1
exon_skip_287540	17	26960300:26960419:26960566:26960769:26960912:26961104	26960566:26960769	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1
exon_skip_287545	17	26960566:26960769:26960912:26961104:26961534:26961688	26960912:26961104	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1
exon_skip_287548	17	26961534:26962627:26963982:26964188:26964853:26965031	26963982:26964188	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1
exon_skip_287554	17	26967577:26967701:26968906:26969096:26969292:26969353	26968906:26969096	ENSG00000007202.10	ENST00000583403.1,ENST00000528896.2,ENST00000577417.1,ENST00000389003.3,ENST00000577580.1,ENST00000544884.1,ENST00000580882.1
exon_skip_287559	17	26969045:26969096:26969292:26969353:26969886:26970005	26969292:26969353	ENSG00000007202.10	ENST00000583403.1,ENST00000528896.2,ENST00000577417.1,ENST00000389003.3,ENST00000544884.1,ENST00000580882.1
exon_skip_287564	17	26969886:26970005:26970181:26970329:26970627:26970677	26970181:26970329	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1,ENST00000580882.1
exon_skip_287565	17	26969886:26970005:26970181:26970329:26971075:26971205	26970181:26970329	ENSG00000007202.10	ENST00000583403.1
exon_skip_287566	17	26969886:26970005:26970181:26970677:26971075:26971205	26970181:26970677	ENSG00000007202.10	ENST00000577417.1
exon_skip_287568	17	26970181:26970329:26970627:26970677:26971075:26971205	26970627:26970677	ENSG00000007202.10	ENST00000528896.2,ENST00000389003.3,ENST00000544884.1,ENST00000580882.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for KIAA0100

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_287516	17	26941899:26942264:26942681:26942816:26943113:26943215	26942681:26942816	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3
exon_skip_287518	17	26942681:26942816:26943113:26943215:26943396:26943527	26943113:26943215	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3
exon_skip_287522	17	26943684:26943771:26943906:26944017:26944249:26944336	26943906:26944017	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1
exon_skip_287523	17	26943906:26944017:26944249:26944336:26945808:26945989	26944249:26944336	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1
exon_skip_287525	17	26946877:26947033:26947526:26947648:26948005:26948188	26947526:26947648	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3
exon_skip_287527	17	26948416:26948516:26950777:26950984:26951250:26951408	26950777:26950984	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3
exon_skip_287532	17	26951250:26951408:26955282:26955577:26958496:26958696	26955282:26955577	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3
exon_skip_287535	17	26959959:26960180:26960300:26960347:26960566:26960671	26960300:26960347	ENSG00000007202.10	ENST00000577261.1
exon_skip_287536	17	26959959:26960180:26960300:26960419:26960566:26960671	26960300:26960419	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3
exon_skip_287540	17	26960300:26960419:26960566:26960769:26960912:26961104	26960566:26960769	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3
exon_skip_287545	17	26960566:26960769:26960912:26961104:26961534:26961688	26960912:26961104	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3
exon_skip_287548	17	26961534:26962627:26963982:26964188:26964853:26965031	26963982:26964188	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3
exon_skip_287554	17	26967577:26967701:26968906:26969096:26969292:26969353	26968906:26969096	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3,ENST00000580882.1,ENST00000577417.1,ENST00000583403.1,ENST00000577580.1
exon_skip_287559	17	26969045:26969096:26969292:26969353:26969886:26970005	26969292:26969353	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3,ENST00000580882.1,ENST00000577417.1,ENST00000583403.1
exon_skip_287564	17	26969886:26970005:26970181:26970329:26970627:26970677	26970181:26970329	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3,ENST00000580882.1
exon_skip_287565	17	26969886:26970005:26970181:26970329:26971075:26971205	26970181:26970329	ENSG00000007202.10	ENST00000583403.1
exon_skip_287566	17	26969886:26970005:26970181:26970677:26971075:26971205	26970181:26970677	ENSG00000007202.10	ENST00000577417.1
exon_skip_287568	17	26970181:26970329:26970627:26970677:26971075:26971205	26970627:26970677	ENSG00000007202.10	ENST00000528896.2,ENST00000544884.1,ENST00000389003.3,ENST00000580882.1

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 KIAA0100

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
ENST00000528896	26947526	26947648	Frame-shift
ENST00000528896	26955282	26955577	Frame-shift
ENST00000528896	26960300	26960419	Frame-shift
ENST00000528896	26960566	26960769	Frame-shift
ENST00000528896	26963982	26964188	Frame-shift
ENST00000528896	26968906	26969096	Frame-shift
ENST00000528896	26969292	26969353	Frame-shift
ENST00000528896	26970181	26970329	Frame-shift
ENST00000528896	26970627	26970677	Frame-shift
ENST00000528896	26942681	26942816	In-frame
ENST00000528896	26943113	26943215	In-frame
ENST00000528896	26943906	26944017	In-frame
ENST00000528896	26944249	26944336	In-frame
ENST00000528896	26950777	26950984	In-frame
ENST00000528896	26960912	26961104	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
ENST00000528896	26947526	26947648	Frame-shift
ENST00000528896	26955282	26955577	Frame-shift
ENST00000528896	26960300	26960419	Frame-shift
ENST00000528896	26960566	26960769	Frame-shift
ENST00000528896	26963982	26964188	Frame-shift
ENST00000528896	26968906	26969096	Frame-shift
ENST00000528896	26969292	26969353	Frame-shift
ENST00000528896	26970181	26970329	Frame-shift
ENST00000528896	26970627	26970677	Frame-shift
ENST00000528896	26942681	26942816	In-frame
ENST00000528896	26943113	26943215	In-frame
ENST00000528896	26943906	26944017	In-frame
ENST00000528896	26944249	26944336	In-frame
ENST00000528896	26950777	26950984	In-frame
ENST00000528896	26960912	26961104	In-frame

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Infer the effects of exon skipping event on protein functional features for KIAA0100

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
ENST00000528896	7424	2235	26960912	26961104	3146	3337	1023	1087
ENST00000528896	7424	2235	26950777	26950984	4828	5034	1584	1653
ENST00000528896	7424	2235	26944249	26944336	5899	5985	1941	1970
ENST00000528896	7424	2235	26943906	26944017	5986	6096	1970	2007
ENST00000528896	7424	2235	26943113	26943215	6364	6465	2096	2130
ENST00000528896	7424	2235	26942681	26942816	6466	6600	2130	2175

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
ENST00000528896	7424	2235	26960912	26961104	3146	3337	1023	1087
ENST00000528896	7424	2235	26950777	26950984	4828	5034	1584	1653
ENST00000528896	7424	2235	26944249	26944336	5899	5985	1941	1970
ENST00000528896	7424	2235	26943906	26944017	5986	6096	1970	2007
ENST00000528896	7424	2235	26943113	26943215	6364	6465	2096	2130
ENST00000528896	7424	2235	26942681	26942816	6466	6600	2130	2175

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
Q14667	1023	1087	1	1846	Alternative sequence	ID=VSP_020317;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14667	1023	1087	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	1023	1087	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	1584	1653	1	1846	Alternative sequence	ID=VSP_020317;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14667	1584	1653	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	1584	1653	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	1941	1970	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	1941	1970	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	1941	1970	1968	1968	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14667	1970	2007	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	1970	2007	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	2096	2130	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	2096	2130	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	2130	2175	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	2130	2175	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100

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
Q14667	1023	1087	1	1846	Alternative sequence	ID=VSP_020317;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14667	1023	1087	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	1023	1087	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	1584	1653	1	1846	Alternative sequence	ID=VSP_020317;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14667	1584	1653	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	1584	1653	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	1941	1970	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	1941	1970	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	1941	1970	1968	1968	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14667	1970	2007	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	1970	2007	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	2096	2130	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	2096	2130	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100
Q14667	2130	2175	366	2235	Alternative sequence	ID=VSP_020320;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:16289875;Dbxref=PMID:15489334,PMID:16289875
Q14667	2130	2175	32	2235	Chain	ID=PRO_0000248587;Note=Protein KIAA0100

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SNVs in the skipped exons for KIAA0100

- 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.

KIAA0100_LUSC_exon_skip_287566_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-DD-A1EG-01	exon_skip_287516	26942682	26942816	26942782	26942782	Frame_Shift_Del	T	-	p.N2142fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_287516	26942682	26942816	26942791	26942791	Frame_Shift_Del	C	-	p.G2139fs
STAD	TCGA-BR-8361-01	exon_skip_287522	26943907	26944017	26943932	26943932	Frame_Shift_Del	C	-	p.G1999fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_287532	26955283	26955577	26955293	26955293	Frame_Shift_Del	C	-	p.G1528fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_287532	26955283	26955577	26955339	26955339	Frame_Shift_Del	G	-	p.P1514fs
LIHC	TCGA-DD-A1EG-01	exon_skip_287532	26955283	26955577	26955363	26955363	Frame_Shift_Del	C	-	p.G1505fs
LIHC	TCGA-DD-A3A0-01	exon_skip_287535	26960301	26960347	26960334	26960334	Frame_Shift_Del	C	-	p.G1184fs
LIHC	TCGA-DD-A3A0-01	exon_skip_287536	26960301	26960419	26960334	26960334	Frame_Shift_Del	C	-	p.G1184fs
STAD	TCGA-D7-A4YT-01	exon_skip_287545	26960913	26961104	26960977	26960983	Frame_Shift_Del	AAGCCCC	-	p.1065_1067del
STAD	TCGA-D7-A4YT-01	exon_skip_287545	26960913	26961104	26960977	26960983	Frame_Shift_Del	AAGCCCC	-	p.G1065fs
LIHC	TCGA-DD-A3A0-01	exon_skip_287545	26960913	26961104	26961073	26961073	Frame_Shift_Del	A	-	p.F1034fs
LIHC	TCGA-DD-A3A0-01	exon_skip_287554	26968907	26969096	26969047	26969047	Frame_Shift_Del	T	-	p.K209fs
PAAD	TCGA-IB-7651-01	exon_skip_287518	26943114	26943215	26943182	26943182	Nonsense_Mutation	G	A	p.R2108*
PAAD	TCGA-IB-7651-01	exon_skip_287518	26943114	26943215	26943182	26943182	Nonsense_Mutation	G	A	p.R2108X
HNSC	TCGA-CV-A460-01	exon_skip_287532	26955283	26955577	26955288	26955288	Nonsense_Mutation	G	T	p.S1530*
CESC	TCGA-FU-A40J-01	exon_skip_287532	26955283	26955577	26955504	26955504	Nonsense_Mutation	C	T	p.W1458*
LUAD	TCGA-38-4631-01	exon_skip_287532	26955283	26955577	26955577	26955577	Nonsense_Mutation	C	A	p.E1434*
LUSC	TCGA-66-2756-01	exon_skip_287565 exon_skip_287564	26970182	26970329	26970223	26970223	Nonsense_Mutation	C	A	p.E119*
LUSC	TCGA-66-2756-01	exon_skip_287566	26970182	26970677	26970223	26970223	Nonsense_Mutation	C	A	p.E119*
CESC	TCGA-EK-A2RK-01	exon_skip_287565 exon_skip_287564	26970182	26970329	26970293	26970293	Nonsense_Mutation	G	A	p.Q79*
CESC	TCGA-EK-A2RK-01	exon_skip_287566	26970182	26970677	26970293	26970293	Nonsense_Mutation	G	A	p.Q79*
UCEC	TCGA-AP-A051-01	exon_skip_287516	26942682	26942816	26942817	26942817	Splice_Site	C	A	e38-1
UCEC	TCGA-AP-A051-01	exon_skip_287523	26944250	26944336	26944249	26944249	Splice_Site	C	T	e33+1
SKCM	TCGA-EE-A20C-06	exon_skip_287559	26969293	26969353	26969291	26969291	Splice_Site	A	G	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-66-2756-01
	Cancer type: LUSC
	ESID: exon_skip_287564
	Skipped exon start: 26970182
	Skipped exon end: 26970329
	Mutation start: 26970223
	Mutation end: 26970223
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E119*
	Sample: TCGA-66-2756-01
	Cancer type: LUSC
	ESID: exon_skip_287566
	Skipped exon start: 26970182
	Skipped exon end: 26970677
	Mutation start: 26970223
	Mutation end: 26970223
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E119*
exon_skip_287564_LUSC_TCGA-66-2756-01.png
exon_skip_287566_LUSC_TCGA-66-2756-01.png
	Sample: TCGA-66-2756-01
	Cancer type: LUSC
	ESID: exon_skip_287564
	Skipped exon start: 26970182
	Skipped exon end: 26970329
	Mutation start: 26970223
	Mutation end: 26970223
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E119*
	Sample: TCGA-66-2756-01
	Cancer type: LUSC
	ESID: exon_skip_287566
	Skipped exon start: 26970182
	Skipped exon end: 26970677
	Mutation start: 26970223
	Mutation end: 26970223
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E119*
exon_skip_287564_LUSC_TCGA-66-2756-01.png
exon_skip_287566_LUSC_TCGA-66-2756-01.png
	Sample: TCGA-AP-A051-01
	Cancer type: UCEC
	ESID: exon_skip_287516
	Skipped exon start: 26942682
	Skipped exon end: 26942816
	Mutation start: 26942817
	Mutation end: 26942817
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: A
	AAchange: e38-1
	Sample: TCGA-AP-A051-01
	Cancer type: UCEC
	ESID: exon_skip_287523
	Skipped exon start: 26944250
	Skipped exon end: 26944336
	Mutation start: 26944249
	Mutation end: 26944249
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: e33+1
exon_skip_10586_UCEC_TCGA-AP-A051-01.png
exon_skip_135209_UCEC_TCGA-AP-A051-01.png
exon_skip_135211_UCEC_TCGA-AP-A051-01.png
exon_skip_27178_UCEC_TCGA-AP-A051-01.png
exon_skip_283774_UCEC_TCGA-AP-A051-01.png
exon_skip_287523_UCEC_TCGA-AP-A051-01.png
exon_skip_302250_UCEC_TCGA-AP-A051-01.png
exon_skip_325639_UCEC_TCGA-AP-A051-01.png
exon_skip_368273_UCEC_TCGA-AP-A051-01.png
exon_skip_511022_UCEC_TCGA-AP-A051-01.png
exon_skip_514511_UCEC_TCGA-AP-A051-01.png
exon_skip_585_UCEC_TCGA-AP-A051-01.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
HUPT3_PANCREAS	26942682	26942816	26942794	26942794	Missense_Mutation	C	A	p.W2138L
SNU16_STOMACH	26943114	26943215	26943116	26943116	Missense_Mutation	T	C	p.K2130E
SNU503_LARGE_INTESTINE	26943907	26944017	26943956	26943956	Missense_Mutation	C	A	p.S1991I
RL952_ENDOMETRIUM	26943907	26944017	26943957	26943957	Missense_Mutation	T	C	p.S1991G
LS513_LARGE_INTESTINE	26943907	26944017	26944008	26944008	Missense_Mutation	G	A	p.R1974W
HCC1588_LUNG	26943907	26944017	26944008	26944008	Missense_Mutation	G	A	p.R1974W
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26950778	26950984	26950781	26950781	Missense_Mutation	T	G	p.L1652F
A101D_SKIN	26955283	26955577	26955285	26955285	Missense_Mutation	C	T	p.G1531E
HEC59_ENDOMETRIUM	26955283	26955577	26955289	26955289	Missense_Mutation	A	G	p.S1530P
MCC26_SKIN	26955283	26955577	26955334	26955334	Missense_Mutation	G	A	p.R1515C
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26955283	26955577	26955367	26955367	Missense_Mutation	G	A	p.R1504W
BT474_BREAST	26955283	26955577	26955421	26955421	Missense_Mutation	C	G	p.E1486Q
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26955283	26955577	26955468	26955468	Missense_Mutation	T	C	p.Y1470C
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26955283	26955577	26955514	26955514	Missense_Mutation	G	A	p.R1455W
JHUEM7_ENDOMETRIUM	26955283	26955577	26955517	26955517	Missense_Mutation	A	C	p.L1454V
DANG_PANCREAS	26960301	26960419	26960364	26960364	Missense_Mutation	T	C	p.H1174R
SKMEL2_SKIN	26960567	26960769	26960650	26960650	Missense_Mutation	A	G	p.W1128R
SNUC5_LARGE_INTESTINE	26963983	26964188	26964014	26964014	Missense_Mutation	A	C	p.I649S
LN382_CENTRAL_NERVOUS_SYSTEM	26963983	26964188	26964039	26964039	Missense_Mutation	C	A	p.V641L
SARC9371_BONE	26963983	26964188	26964048	26964048	Missense_Mutation	G	A	p.P638S
SW1990_PANCREAS	26963983	26964188	26964129	26964129	Missense_Mutation	C	T	p.V611M
NCIH64_LUNG	26968907	26969096	26969086	26969086	Missense_Mutation	C	A	p.C196F
TE4_OESOPHAGUS	26968907	26969096	26969086	26969086	Missense_Mutation	C	T	p.C196Y
HCC1187_BREAST	26970182	26970329	26970186	26970186	Missense_Mutation	C	T	p.C131Y
HCC1187_BREAST	26970182	26970677	26970186	26970186	Missense_Mutation	C	T	p.C131Y
HCC1187_MATCHED_NORMAL_TISSUE	26970182	26970329	26970186	26970186	Missense_Mutation	C	T	p.C131Y
HCC1187_MATCHED_NORMAL_TISSUE	26970182	26970677	26970186	26970186	Missense_Mutation	C	T	p.C131Y
HEC1_ENDOMETRIUM	26970182	26970329	26970201	26970201	Missense_Mutation	A	G	p.L126S
HEC1_ENDOMETRIUM	26970182	26970677	26970201	26970201	Missense_Mutation	A	G	p.L126S
BICR18_UPPER_AERODIGESTIVE_TRACT	26970182	26970329	26970214	26970214	Missense_Mutation	A	G	p.F122L
BICR18_UPPER_AERODIGESTIVE_TRACT	26970182	26970677	26970214	26970214	Missense_Mutation	A	G	p.F122L
NCIH630_LARGE_INTESTINE	26970182	26970329	26970297	26970297	Missense_Mutation	C	T	p.R94H
NCIH630_LARGE_INTESTINE	26970182	26970677	26970297	26970297	Missense_Mutation	C	T	p.R94H
PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26970182	26970329	26970312	26970312	Missense_Mutation	C	A	p.C89F
PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26970182	26970677	26970312	26970312	Missense_Mutation	C	A	p.C89F
HT115_LARGE_INTESTINE	26970182	26970677	26970657	26970657	Missense_Mutation	A	C	p.I73M
HT115_LARGE_INTESTINE	26970628	26970677	26970657	26970657	Missense_Mutation	A	C	p.I73M
CW9019_SOFT_TISSUE	26960567	26960769	26960769	26960769	Splice_Site	G	A	p.S1088L
697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26970182	26970677	26970628	26970628	Splice_Site	G	A	p.P83L
697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26970628	26970677	26970628	26970628	Splice_Site	G	A	p.P83L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIAA0100

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 KIAA0100

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA0100

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RelatedDrugs for KIAA0100

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 KIAA0100

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 KIAA0100

Exon skipping events across known transcript of Ensembl for KIAA0100 from UCSC genome browser

Gene isoform structures and expression levels for KIAA0100

Exon skipping events with PSIs in TCGA for KIAA0100

Exon skipping events with PSIs in GTEx for KIAA0100

Open reading frame (ORF) annotation in the exon skipping event for KIAA0100

Infer the effects of exon skipping event on protein functional features for KIAA0100

SNVs in the skipped exons for KIAA0100

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIAA0100

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA0100

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA0100

RelatedDrugs for KIAA0100

RelatedDiseases for KIAA0100