ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for UBTF

Gene summary

Gene information	Gene symbol	UBTF
	Gene ID	7343
	Gene name	upstream binding transcription factor
	Synonyms	CONDBA\|NOR-90\|UBF\|UBF-1\|UBF1\|UBF2
	Cytomap	17q21.31
	Type of gene	protein-coding
	Description	nucleolar transcription factor 190-kDa nucleolus organizer region autoantigenautoantigen NOR-90upstream binding transcription factor, RNA polymerase I
	Modification date	20180522
	UniProtAcc	P17480
	Context	PubMed: UBTF [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
UBTF	GO:1902659	regulation of glucose mediated signaling pathway	22368283

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Exon skipping events across known transcript of Ensembl for UBTF 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 UBTF

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 UBTF

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_290437	17	42285070:42285138:42285231:42285279:42286719:42286790	42285231:42285279	ENSG00000108312.10	ENST00000302904.4,ENST00000527034.1,ENST00000529383.1,ENST00000533177.1,ENST00000526094.1,ENST00000436088.1,ENST00000393606.3,ENST00000343638.5
exon_skip_290442	17	42285231:42285279:42285986:42286369:42286719:42286790	42285986:42286369	ENSG00000108312.10	ENST00000529947.1
exon_skip_290451	17	42286802:42286909:42287012:42287101:42287491:42287510	42287012:42287101	ENSG00000108312.10	ENST00000531368.1,ENST00000302904.4,ENST00000527034.1,ENST00000529383.1,ENST00000533177.1,ENST00000526094.1,ENST00000436088.1,ENST00000529373.1,ENST00000393606.3,ENST00000343638.5
exon_skip_290452	17	42287685:42287841:42288159:42288315:42288406:42288520	42288159:42288315	ENSG00000108312.10	ENST00000302904.4,ENST00000527034.1,ENST00000529383.1,ENST00000533177.1,ENST00000526094.1,ENST00000436088.1,ENST00000393606.3,ENST00000343638.5
exon_skip_290454	17	42288406:42288520:42288657:42288699:42288973:42289115	42288657:42288699	ENSG00000108312.10	ENST00000302904.4,ENST00000527034.1,ENST00000529383.1,ENST00000533177.1,ENST00000526094.1,ENST00000436088.1,ENST00000393606.3,ENST00000343638.5
exon_skip_290456	17	42289240:42289374:42289711:42289822:42290186:42290307	42289711:42289822	ENSG00000108312.10	ENST00000302904.4,ENST00000529383.1,ENST00000436088.1
exon_skip_290458	17	42289240:42289374:42290186:42290307:42290585:42290650	42290186:42290307	ENSG00000108312.10	ENST00000527034.1,ENST00000533177.1,ENST00000526094.1,ENST00000393606.3,ENST00000343638.5
exon_skip_290460	17	42290186:42290307:42290585:42290650:42293021:42293177	42290585:42290650	ENSG00000108312.10	ENST00000302904.4,ENST00000527034.1,ENST00000529383.1,ENST00000533177.1,ENST00000526094.1,ENST00000436088.1,ENST00000393606.3,ENST00000343638.5
exon_skip_290463	17	42293021:42293177:42293273:42293357:42293896:42294072	42293273:42293357	ENSG00000108312.10	ENST00000302904.4,ENST00000527034.1,ENST00000537550.1,ENST00000529383.1,ENST00000533177.1,ENST00000526094.1,ENST00000436088.1,ENST00000393606.3,ENST00000343638.5
exon_skip_290464	17	42293896:42294072:42295539:42295664:42298107:42298222	42295539:42295664	ENSG00000108312.10	ENST00000527034.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for UBTF

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_290437	17	42285070:42285138:42285231:42285279:42286719:42286790	42285231:42285279	ENSG00000108312.10	ENST00000343638.5,ENST00000302904.4,ENST00000527034.1,ENST00000533177.1,ENST00000436088.1,ENST00000393606.3,ENST00000526094.1,ENST00000529383.1
exon_skip_290442	17	42285231:42285279:42285986:42286369:42286719:42286790	42285986:42286369	ENSG00000108312.10	ENST00000529947.1
exon_skip_290451	17	42286802:42286909:42287012:42287101:42287491:42287510	42287012:42287101	ENSG00000108312.10	ENST00000343638.5,ENST00000302904.4,ENST00000527034.1,ENST00000533177.1,ENST00000436088.1,ENST00000393606.3,ENST00000526094.1,ENST00000529383.1,ENST00000531368.1,ENST00000529373.1
exon_skip_290452	17	42287685:42287841:42288159:42288315:42288406:42288520	42288159:42288315	ENSG00000108312.10	ENST00000343638.5,ENST00000302904.4,ENST00000527034.1,ENST00000533177.1,ENST00000436088.1,ENST00000393606.3,ENST00000526094.1,ENST00000529383.1
exon_skip_290454	17	42288406:42288520:42288657:42288699:42288973:42289115	42288657:42288699	ENSG00000108312.10	ENST00000343638.5,ENST00000302904.4,ENST00000527034.1,ENST00000533177.1,ENST00000436088.1,ENST00000393606.3,ENST00000526094.1,ENST00000529383.1
exon_skip_290456	17	42289240:42289374:42289711:42289822:42290186:42290307	42289711:42289822	ENSG00000108312.10	ENST00000302904.4,ENST00000436088.1,ENST00000529383.1
exon_skip_290458	17	42289240:42289374:42290186:42290307:42290585:42290650	42290186:42290307	ENSG00000108312.10	ENST00000343638.5,ENST00000527034.1,ENST00000533177.1,ENST00000393606.3,ENST00000526094.1
exon_skip_290460	17	42290186:42290307:42290585:42290650:42293021:42293177	42290585:42290650	ENSG00000108312.10	ENST00000343638.5,ENST00000302904.4,ENST00000527034.1,ENST00000533177.1,ENST00000436088.1,ENST00000393606.3,ENST00000526094.1,ENST00000529383.1
exon_skip_290463	17	42293021:42293177:42293273:42293357:42293896:42294072	42293273:42293357	ENSG00000108312.10	ENST00000343638.5,ENST00000302904.4,ENST00000527034.1,ENST00000533177.1,ENST00000436088.1,ENST00000393606.3,ENST00000526094.1,ENST00000529383.1,ENST00000537550.1
exon_skip_290464	17	42293896:42294072:42295539:42295664:42298107:42298222	42295539:42295664	ENSG00000108312.10	ENST00000527034.1

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 UBTF

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
ENST00000302904	42287012	42287101	Frame-shift
ENST00000436088	42287012	42287101	Frame-shift
ENST00000529383	42287012	42287101	Frame-shift
ENST00000302904	42290585	42290650	Frame-shift
ENST00000436088	42290585	42290650	Frame-shift
ENST00000529383	42290585	42290650	Frame-shift
ENST00000302904	42285231	42285279	In-frame
ENST00000436088	42285231	42285279	In-frame
ENST00000529383	42285231	42285279	In-frame
ENST00000302904	42288159	42288315	In-frame
ENST00000436088	42288159	42288315	In-frame
ENST00000529383	42288159	42288315	In-frame
ENST00000302904	42288657	42288699	In-frame
ENST00000436088	42288657	42288699	In-frame
ENST00000529383	42288657	42288699	In-frame
ENST00000302904	42289711	42289822	In-frame
ENST00000436088	42289711	42289822	In-frame
ENST00000529383	42289711	42289822	In-frame
ENST00000302904	42293273	42293357	In-frame
ENST00000436088	42293273	42293357	In-frame
ENST00000529383	42293273	42293357	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
ENST00000302904	42287012	42287101	Frame-shift
ENST00000436088	42287012	42287101	Frame-shift
ENST00000529383	42287012	42287101	Frame-shift
ENST00000302904	42290585	42290650	Frame-shift
ENST00000436088	42290585	42290650	Frame-shift
ENST00000529383	42290585	42290650	Frame-shift
ENST00000302904	42285231	42285279	In-frame
ENST00000436088	42285231	42285279	In-frame
ENST00000529383	42285231	42285279	In-frame
ENST00000302904	42288159	42288315	In-frame
ENST00000436088	42288159	42288315	In-frame
ENST00000529383	42288159	42288315	In-frame
ENST00000302904	42288657	42288699	In-frame
ENST00000436088	42288657	42288699	In-frame
ENST00000529383	42288657	42288699	In-frame
ENST00000302904	42289711	42289822	In-frame
ENST00000436088	42289711	42289822	In-frame
ENST00000529383	42289711	42289822	In-frame
ENST00000302904	42293273	42293357	In-frame
ENST00000436088	42293273	42293357	In-frame
ENST00000529383	42293273	42293357	In-frame

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

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
ENST00000302904	5014	764	42293273	42293357	728	811	78	106
ENST00000436088	2755	764	42293273	42293357	356	439	78	106
ENST00000529383	2587	764	42293273	42293357	508	591	78	106
ENST00000302904	5014	764	42289711	42289822	1154	1264	220	257
ENST00000436088	2755	764	42289711	42289822	782	892	220	257
ENST00000529383	2587	764	42289711	42289822	934	1044	220	257
ENST00000302904	5014	764	42288657	42288699	1541	1582	349	363
ENST00000436088	2755	764	42288657	42288699	1169	1210	349	363
ENST00000529383	2587	764	42288657	42288699	1321	1362	349	363
ENST00000302904	5014	764	42288159	42288315	1697	1852	401	453
ENST00000436088	2755	764	42288159	42288315	1325	1480	401	453
ENST00000529383	2587	764	42288159	42288315	1477	1632	401	453
ENST00000302904	5014	764	42285231	42285279	2399	2446	635	651
ENST00000436088	2755	764	42285231	42285279	2027	2074	635	651
ENST00000529383	2587	764	42285231	42285279	2179	2226	635	651

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
ENST00000302904	5014	764	42293273	42293357	728	811	78	106
ENST00000436088	2755	764	42293273	42293357	356	439	78	106
ENST00000529383	2587	764	42293273	42293357	508	591	78	106
ENST00000302904	5014	764	42289711	42289822	1154	1264	220	257
ENST00000436088	2755	764	42289711	42289822	782	892	220	257
ENST00000529383	2587	764	42289711	42289822	934	1044	220	257
ENST00000302904	5014	764	42288657	42288699	1541	1582	349	363
ENST00000436088	2755	764	42288657	42288699	1169	1210	349	363
ENST00000529383	2587	764	42288657	42288699	1321	1362	349	363
ENST00000302904	5014	764	42288159	42288315	1697	1852	401	453
ENST00000436088	2755	764	42288159	42288315	1325	1480	401	453
ENST00000529383	2587	764	42288159	42288315	1477	1632	401	453
ENST00000302904	5014	764	42285231	42285279	2399	2446	635	651
ENST00000436088	2755	764	42285231	42285279	2027	2074	635	651
ENST00000529383	2587	764	42285231	42285279	2179	2226	635	651

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
P17480	78	106	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	78	106	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	78	106	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	220	257	221	257	Alternative sequence	ID=VSP_002193;Note=In isoform UBF2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:1940801;Dbxref=PMID:15489334,PMID:1940801
P17480	220	257	221	257	Alternative sequence	ID=VSP_002193;Note=In isoform UBF2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:1940801;Dbxref=PMID:15489334,PMID:1940801
P17480	220	257	221	257	Alternative sequence	ID=VSP_002193;Note=In isoform UBF2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:1940801;Dbxref=PMID:15489334,PMID:1940801
P17480	220	257	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	220	257	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	220	257	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	220	257	196	264	DNA binding	Note=HMG box 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	220	257	196	264	DNA binding	Note=HMG box 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	220	257	196	264	DNA binding	Note=HMG box 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	349	363	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	349	363	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	349	363	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	349	363	298	362	DNA binding	Note=HMG box 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	349	363	298	362	DNA binding	Note=HMG box 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	349	363	298	362	DNA binding	Note=HMG box 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	401	453	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	401	453	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	401	453	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	401	453	407	475	DNA binding	Note=HMG box 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	401	453	407	475	DNA binding	Note=HMG box 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	401	453	407	475	DNA binding	Note=HMG box 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	401	453	412	412	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P17480	401	453	412	412	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P17480	401	453	412	412	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P17480	401	453	433	433	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P25976
P17480	401	453	433	433	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P25976
P17480	401	453	433	433	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P25976
P17480	401	453	435	435	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P17480	401	453	435	435	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P17480	401	453	435	435	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P17480	635	651	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	635	651	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	635	651	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	635	651	638	638	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P17480	635	651	638	638	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P17480	635	651	638	638	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648

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
P17480	78	106	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	78	106	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	78	106	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	220	257	221	257	Alternative sequence	ID=VSP_002193;Note=In isoform UBF2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:1940801;Dbxref=PMID:15489334,PMID:1940801
P17480	220	257	221	257	Alternative sequence	ID=VSP_002193;Note=In isoform UBF2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:1940801;Dbxref=PMID:15489334,PMID:1940801
P17480	220	257	221	257	Alternative sequence	ID=VSP_002193;Note=In isoform UBF2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:1940801;Dbxref=PMID:15489334,PMID:1940801
P17480	220	257	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	220	257	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	220	257	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	220	257	196	264	DNA binding	Note=HMG box 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	220	257	196	264	DNA binding	Note=HMG box 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	220	257	196	264	DNA binding	Note=HMG box 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	349	363	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	349	363	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	349	363	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	349	363	298	362	DNA binding	Note=HMG box 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	349	363	298	362	DNA binding	Note=HMG box 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	349	363	298	362	DNA binding	Note=HMG box 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	401	453	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	401	453	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	401	453	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	401	453	407	475	DNA binding	Note=HMG box 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	401	453	407	475	DNA binding	Note=HMG box 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	401	453	407	475	DNA binding	Note=HMG box 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00267
P17480	401	453	412	412	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P17480	401	453	412	412	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P17480	401	453	412	412	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P17480	401	453	433	433	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P25976
P17480	401	453	433	433	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P25976
P17480	401	453	433	433	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P25976
P17480	401	453	435	435	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P17480	401	453	435	435	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P17480	401	453	435	435	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P17480	635	651	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	635	651	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	635	651	1	764	Chain	ID=PRO_0000048625;Note=Nucleolar transcription factor 1
P17480	635	651	638	638	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P17480	635	651	638	638	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P17480	635	651	638	638	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648

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SNVs in the skipped exons for UBTF

- 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.

UBTF_CESC_exon_skip_290456_psi_boxplot.png
boxplot

UBTF_CESC_exon_skip_290463_psi_boxplot.png
boxplot

UBTF_KIRC_exon_skip_290456_psi_boxplot.png
boxplot

UBTF_LIHC_exon_skip_290463_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
ACC	TCGA-OR-A5JM-01	exon_skip_290452	42288160	42288315	42288160	42288162	Frame_Shift_Del	CTT	-	p.416_416del
ACC	TCGA-OR-A5JM-01	exon_skip_290452	42288160	42288315	42288160	42288162	Frame_Shift_Del	CTT	-	p.453_453del
LIHC	TCGA-DD-A3A0-01	exon_skip_290456	42289712	42289822	42289761	42289761	Frame_Shift_Del	T	-	p.K241fs
KIRC	TCGA-DV-A4W0-01	exon_skip_290456	42289712	42289822	42289768	42289768	Frame_Shift_Del	C	-	p.D239fs
LIHC	TCGA-DD-A1EG-01	exon_skip_290458	42290187	42290307	42290240	42290240	Frame_Shift_Del	G	-	p.Q204fs
LIHC	TCGA-DD-A39Y-01	exon_skip_290463	42293274	42293357	42293299	42293299	Frame_Shift_Del	T	-	p.N98fs
CESC	TCGA-EK-A3GJ-01	exon_skip_290456	42289712	42289822	42289777	42289777	Nonsense_Mutation	G	A	p.Q236*
BLCA	TCGA-H4-A2HQ-01	exon_skip_290458	42290187	42290307	42290269	42290269	Nonsense_Mutation	G	T	p.S193*
CESC	TCGA-EA-A6QX-01	exon_skip_290463	42293274	42293357	42293273	42293273	Splice_Site	C	T	e3+1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-EA-A6QX-01
	Cancer type: CESC
	ESID: exon_skip_290463
	Skipped exon start: 42293274
	Skipped exon end: 42293357
	Mutation start: 42293273
	Mutation end: 42293273
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: e3+1
exon_skip_290463_CESC_TCGA-EA-A6QX-01.png
	Sample: TCGA-EK-A3GJ-01
	Cancer type: CESC
	ESID: exon_skip_290456
	Skipped exon start: 42289712
	Skipped exon end: 42289822
	Mutation start: 42289777
	Mutation end: 42289777
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.Q236*
exon_skip_290456_CESC_TCGA-EK-A3GJ-01.png
exon_skip_374183_CESC_TCGA-EK-A3GJ-01.png
	Sample: TCGA-DV-A4W0-01
	Cancer type: KIRC
	ESID: exon_skip_290456
	Skipped exon start: 42289712
	Skipped exon end: 42289822
	Mutation start: 42289768
	Mutation end: 42289768
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.D239fs
exon_skip_290456_KIRC_TCGA-DV-A4W0-01.png
exon_skip_384808_KIRC_TCGA-DV-A4W0-01.png
exon_skip_463121_KIRC_TCGA-DV-A4W0-01.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
EFO27_OVARY	42293274	42293357	42293279	42293280	Frame_Shift_Ins	-	T	p.L105fs
OELE_OVARY	42293274	42293357	42293279	42293280	Frame_Shift_Ins	-	T	p.L105fs
SNU283_LARGE_INTESTINE	42293274	42293357	42293279	42293280	Frame_Shift_Ins	-	T	p.L105fs
NCIH1155_LUNG	42285232	42285279	42285257	42285257	Missense_Mutation	G	A	p.A643V
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42287013	42287101	42287064	42287064	Missense_Mutation	G	T	p.T555K
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42287013	42287101	42287070	42287070	Missense_Mutation	G	C	p.A553G
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42287013	42287101	42287084	42287084	Missense_Mutation	C	T	p.M548I
CCK81_LARGE_INTESTINE	42290586	42290650	42290605	42290605	Nonsense_Mutation	G	A	p.R174*
KM12_LARGE_INTESTINE	42285232	42285279	42285233	42285233	Splice_Site	T	A	p.N651I

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

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 UBTF

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

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RelatedDrugs for UBTF

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 UBTF

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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