ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PROM2

Gene summary

Gene information	Gene symbol	PROM2
	Gene ID	150696
	Gene name	prominin 2
	Synonyms	PROML2
	Cytomap	2q11.1
	Type of gene	protein-coding
	Description	prominin-2prominin-like protein 2prominin-related protein
	Modification date	20180523
	UniProtAcc	Q8N271
	Context	PubMed: PROM2 [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
PROM2	GO:0001934	positive regulation of protein phosphorylation	23583380
PROM2	GO:0031346	positive regulation of cell projection organization	23583380
PROM2	GO:0043087	regulation of GTPase activity	23583380
PROM2	GO:0048550	negative regulation of pinocytosis	23583380
PROM2	GO:2000369	regulation of clathrin-dependent endocytosis	23583380
PROM2	GO:2001287	negative regulation of caveolin-mediated endocytosis	23583380

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Exon skipping events across known transcript of Ensembl for PROM2 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 PROM2

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 PROM2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_327607	2	95940248:95940577:95941208:95941258:95941677:95941840	95941208:95941258	ENSG00000155066.11	ENST00000487138.1,ENST00000317620.9,ENST00000317668.4,ENST00000542147.1
exon_skip_327618	2	95941210:95941258:95941616:95941880:95941974:95942095	95941616:95941880	ENSG00000155066.11	ENST00000431567.1
exon_skip_327623	2	95941210:95941258:95941677:95941880:95941974:95942095	95941677:95941880	ENSG00000155066.11	ENST00000487138.1,ENST00000403131.2,ENST00000317620.9,ENST00000317668.4,ENST00000542147.1
exon_skip_327629	2	95941677:95941880:95941974:95942095:95942341:95942405	95941974:95942095	ENSG00000155066.11	ENST00000431567.1,ENST00000403131.2,ENST00000317620.9,ENST00000317668.4,ENST00000542147.1
exon_skip_327631	2	95941677:95941880:95941974:95942095:95943111:95943244	95941974:95942095	ENSG00000155066.11	ENST00000487138.1
exon_skip_327642	2	95941974:95942095:95942341:95942405:95942719:95942809	95942341:95942405	ENSG00000155066.11	ENST00000431567.1,ENST00000403131.2,ENST00000317620.9,ENST00000317668.4,ENST00000542147.1
exon_skip_327654	2	95941974:95942095:95943111:95943244:95943677:95943744	95943111:95943244	ENSG00000155066.11	ENST00000487138.1
exon_skip_327661	2	95942380:95942405:95942719:95942809:95943111:95943244	95942719:95942809	ENSG00000155066.11	ENST00000431567.1,ENST00000403131.2,ENST00000317620.9,ENST00000463580.1,ENST00000317668.4,ENST00000542147.1
exon_skip_327666	2	95943677:95943752:95944468:95944532:95944732:95944892	95944468:95944532	ENSG00000155066.11	ENST00000478295.1,ENST00000431567.1,ENST00000403131.2,ENST00000317620.9,ENST00000317668.4,ENST00000542147.1
exon_skip_327671	2	95945613:95945745:95946989:95947113:95947672:95947764	95946989:95947113	ENSG00000155066.11	ENST00000487138.1,ENST00000431567.1,ENST00000403131.2,ENST00000317620.9,ENST00000497110.1,ENST00000317668.4,ENST00000542147.1
exon_skip_327676	2	95947893:95947974:95950716:95950863:95951386:95951458	95950716:95950863	ENSG00000155066.11	ENST00000487138.1,ENST00000431567.1,ENST00000403131.2,ENST00000317620.9,ENST00000317668.4
exon_skip_327679	2	95952551:95952605:95952880:95952961:95953143:95953212	95952880:95952961	ENSG00000155066.11	ENST00000487138.1,ENST00000431567.1,ENST00000403131.2,ENST00000317620.9,ENST00000317668.4,ENST00000542147.1
exon_skip_327684	2	95952880:95952961:95953143:95953212:95953958:95954048	95953143:95953212	ENSG00000155066.11	ENST00000487138.1,ENST00000431567.1,ENST00000403131.2,ENST00000317620.9,ENST00000317668.4,ENST00000542147.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PROM2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_327607	2	95940248:95940577:95941208:95941258:95941677:95941840	95941208:95941258	ENSG00000155066.11	ENST00000317668.4,ENST00000317620.9,ENST00000487138.1,ENST00000542147.1
exon_skip_327618	2	95941210:95941258:95941616:95941880:95941974:95942095	95941616:95941880	ENSG00000155066.11	ENST00000431567.1
exon_skip_327623	2	95941210:95941258:95941677:95941880:95941974:95942095	95941677:95941880	ENSG00000155066.11	ENST00000403131.2,ENST00000317668.4,ENST00000317620.9,ENST00000487138.1,ENST00000542147.1
exon_skip_327629	2	95941677:95941880:95941974:95942095:95942341:95942405	95941974:95942095	ENSG00000155066.11	ENST00000403131.2,ENST00000317668.4,ENST00000317620.9,ENST00000542147.1,ENST00000431567.1
exon_skip_327631	2	95941677:95941880:95941974:95942095:95943111:95943244	95941974:95942095	ENSG00000155066.11	ENST00000487138.1
exon_skip_327642	2	95941974:95942095:95942341:95942405:95942719:95942809	95942341:95942405	ENSG00000155066.11	ENST00000403131.2,ENST00000317668.4,ENST00000317620.9,ENST00000542147.1,ENST00000431567.1
exon_skip_327654	2	95941974:95942095:95943111:95943244:95943677:95943744	95943111:95943244	ENSG00000155066.11	ENST00000487138.1
exon_skip_327661	2	95942380:95942405:95942719:95942809:95943111:95943244	95942719:95942809	ENSG00000155066.11	ENST00000403131.2,ENST00000317668.4,ENST00000317620.9,ENST00000463580.1,ENST00000542147.1,ENST00000431567.1
exon_skip_327666	2	95943677:95943752:95944468:95944532:95944732:95944892	95944468:95944532	ENSG00000155066.11	ENST00000403131.2,ENST00000317668.4,ENST00000317620.9,ENST00000542147.1,ENST00000431567.1,ENST00000478295.1
exon_skip_327671	2	95945613:95945745:95946989:95947113:95947672:95947764	95946989:95947113	ENSG00000155066.11	ENST00000403131.2,ENST00000317668.4,ENST00000317620.9,ENST00000487138.1,ENST00000542147.1,ENST00000431567.1,ENST00000497110.1
exon_skip_327676	2	95947893:95947974:95950716:95950863:95951386:95951458	95950716:95950863	ENSG00000155066.11	ENST00000403131.2,ENST00000317668.4,ENST00000317620.9,ENST00000487138.1,ENST00000431567.1
exon_skip_327679	2	95952551:95952605:95952880:95952961:95953143:95953212	95952880:95952961	ENSG00000155066.11	ENST00000403131.2,ENST00000317668.4,ENST00000317620.9,ENST00000487138.1,ENST00000542147.1,ENST00000431567.1
exon_skip_327684	2	95952880:95952961:95953143:95953212:95953958:95954048	95953143:95953212	ENSG00000155066.11	ENST00000403131.2,ENST00000317668.4,ENST00000317620.9,ENST00000487138.1,ENST00000542147.1,ENST00000431567.1

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 PROM2

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
ENST00000317620	95941208	95941258	Frame-shift
ENST00000317668	95941208	95941258	Frame-shift
ENST00000317620	95941677	95941880	Frame-shift
ENST00000317668	95941677	95941880	Frame-shift
ENST00000403131	95941677	95941880	Frame-shift
ENST00000317620	95941974	95942095	Frame-shift
ENST00000317668	95941974	95942095	Frame-shift
ENST00000403131	95941974	95942095	Frame-shift
ENST00000317620	95942341	95942405	Frame-shift
ENST00000317668	95942341	95942405	Frame-shift
ENST00000403131	95942341	95942405	Frame-shift
ENST00000317620	95944468	95944532	Frame-shift
ENST00000317668	95944468	95944532	Frame-shift
ENST00000403131	95944468	95944532	Frame-shift
ENST00000317620	95946989	95947113	Frame-shift
ENST00000317668	95946989	95947113	Frame-shift
ENST00000403131	95946989	95947113	Frame-shift
ENST00000317620	95942719	95942809	In-frame
ENST00000317668	95942719	95942809	In-frame
ENST00000403131	95942719	95942809	In-frame
ENST00000317620	95950716	95950863	In-frame
ENST00000317668	95950716	95950863	In-frame
ENST00000403131	95950716	95950863	In-frame
ENST00000317620	95952880	95952961	In-frame
ENST00000317668	95952880	95952961	In-frame
ENST00000403131	95952880	95952961	In-frame
ENST00000317620	95953143	95953212	In-frame
ENST00000317668	95953143	95953212	In-frame
ENST00000403131	95953143	95953212	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
ENST00000317620	95941208	95941258	Frame-shift
ENST00000317668	95941208	95941258	Frame-shift
ENST00000317620	95941677	95941880	Frame-shift
ENST00000317668	95941677	95941880	Frame-shift
ENST00000403131	95941677	95941880	Frame-shift
ENST00000317620	95941974	95942095	Frame-shift
ENST00000317668	95941974	95942095	Frame-shift
ENST00000403131	95941974	95942095	Frame-shift
ENST00000317620	95942341	95942405	Frame-shift
ENST00000317668	95942341	95942405	Frame-shift
ENST00000403131	95942341	95942405	Frame-shift
ENST00000317620	95944468	95944532	Frame-shift
ENST00000317668	95944468	95944532	Frame-shift
ENST00000403131	95944468	95944532	Frame-shift
ENST00000317620	95946989	95947113	Frame-shift
ENST00000317668	95946989	95947113	Frame-shift
ENST00000403131	95946989	95947113	Frame-shift
ENST00000317620	95942719	95942809	In-frame
ENST00000317668	95942719	95942809	In-frame
ENST00000403131	95942719	95942809	In-frame
ENST00000317620	95950716	95950863	In-frame
ENST00000317668	95950716	95950863	In-frame
ENST00000403131	95950716	95950863	In-frame
ENST00000317620	95952880	95952961	In-frame
ENST00000317668	95952880	95952961	In-frame
ENST00000403131	95952880	95952961	In-frame
ENST00000317620	95953143	95953212	In-frame
ENST00000317668	95953143	95953212	In-frame
ENST00000403131	95953143	95953212	In-frame

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Infer the effects of exon skipping event on protein functional features for PROM2

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
ENST00000317620	4745	834	95942719	95942809	816	905	227	257
ENST00000317668	3841	834	95942719	95942809	816	905	227	257
ENST00000403131	2939	834	95942719	95942809	816	905	227	257
ENST00000317620	4745	834	95950716	95950863	1862	2008	576	625
ENST00000317668	3841	834	95950716	95950863	1862	2008	576	625
ENST00000403131	2939	834	95950716	95950863	1862	2008	576	625
ENST00000317620	4745	834	95952880	95952961	2228	2308	698	725
ENST00000317668	3841	834	95952880	95952961	2228	2308	698	725
ENST00000403131	2939	834	95952880	95952961	2228	2308	698	725
ENST00000317620	4745	834	95953143	95953212	2309	2377	725	748
ENST00000317668	3841	834	95953143	95953212	2309	2377	725	748
ENST00000403131	2939	834	95953143	95953212	2309	2377	725	748

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
ENST00000317620	4745	834	95942719	95942809	816	905	227	257
ENST00000317668	3841	834	95942719	95942809	816	905	227	257
ENST00000403131	2939	834	95942719	95942809	816	905	227	257
ENST00000317620	4745	834	95950716	95950863	1862	2008	576	625
ENST00000317668	3841	834	95950716	95950863	1862	2008	576	625
ENST00000403131	2939	834	95950716	95950863	1862	2008	576	625
ENST00000317620	4745	834	95952880	95952961	2228	2308	698	725
ENST00000317668	3841	834	95952880	95952961	2228	2308	698	725
ENST00000403131	2939	834	95952880	95952961	2228	2308	698	725
ENST00000317620	4745	834	95953143	95953212	2309	2377	725	748
ENST00000317668	3841	834	95953143	95953212	2309	2377	725	748
ENST00000403131	2939	834	95953143	95953212	2309	2377	725	748

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
Q8N271	227	257	1	474	Alternative sequence	ID=VSP_033148;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8N271	227	257	1	474	Alternative sequence	ID=VSP_033148;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8N271	227	257	1	474	Alternative sequence	ID=VSP_033148;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8N271	227	257	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	227	257	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	227	257	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	227	257	175	426	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	227	257	175	426	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	227	257	175	426	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	576	625	576	624	Alternative sequence	ID=VSP_033149;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N271	576	625	576	624	Alternative sequence	ID=VSP_033149;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N271	576	625	576	624	Alternative sequence	ID=VSP_033149;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N271	576	625	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	576	625	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	576	625	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	576	625	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	576	625	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	576	625	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	698	725	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	698	725	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	698	725	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	698	725	701	701	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	701	701	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	701	701	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	704	704	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	704	704	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	704	704	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	698	725	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	698	725	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	725	748	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	725	748	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	725	748	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	725	748	727	727	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q8N271	725	748	727	727	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q8N271	725	748	727	727	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q8N271	725	748	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	725	748	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	725	748	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q8N271	227	257	1	474	Alternative sequence	ID=VSP_033148;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8N271	227	257	1	474	Alternative sequence	ID=VSP_033148;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8N271	227	257	1	474	Alternative sequence	ID=VSP_033148;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8N271	227	257	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	227	257	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	227	257	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	227	257	175	426	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	227	257	175	426	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	227	257	175	426	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	576	625	576	624	Alternative sequence	ID=VSP_033149;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N271	576	625	576	624	Alternative sequence	ID=VSP_033149;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N271	576	625	576	624	Alternative sequence	ID=VSP_033149;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N271	576	625	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	576	625	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	576	625	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	576	625	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	576	625	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	576	625	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	698	725	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	698	725	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	698	725	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	698	725	701	701	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	701	701	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	701	701	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	704	704	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	704	704	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	704	704	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N271	698	725	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	698	725	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	698	725	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	725	748	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	725	748	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	725	748	27	834	Chain	ID=PRO_0000331239;Note=Prominin-2
Q8N271	725	748	727	727	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q8N271	725	748	727	727	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q8N271	725	748	727	727	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q8N271	725	748	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	725	748	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8N271	725	748	494	779	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for PROM2

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

- Differential PSIs between mutated versus non-mutated samples.

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A1EG-01	exon_skip_327631 exon_skip_327629	95941975	95942095	95942070	95942070	Frame_Shift_Del	G	-	p.W198fs
LIHC	TCGA-DD-A39Y-01	exon_skip_327661	95942720	95942809	95942768	95942768	Frame_Shift_Del	C	-	p.S244fs
LIHC	TCGA-DD-A39Y-01	exon_skip_327684	95953144	95953212	95953184	95953184	Frame_Shift_Del	C	-	p.S739fs
HNSC	TCGA-CR-6481-01	exon_skip_327684	95953144	95953212	95953210	95953210	Nonsense_Mutation	G	T	p.E748*
HNSC	TCGA-CV-7089-01	exon_skip_327607	95941209	95941258	95941259	95941259	Splice_Site	G	T	p.E98_splice
SKCM	TCGA-FS-A1ZC-06	exon_skip_327666	95944469	95944532	95944534	95944534	Splice_Site	T	C	.

- 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
SKMEL1_SKIN	95944469	95944532	95944473	95944474	Frame_Shift_Del	AC	-	p.N352fs
MFE319_ENDOMETRIUM	95941209	95941258	95941247	95941247	Missense_Mutation	A	G	p.K95E
GSU_STOMACH	95941617	95941880	95941724	95941724	Missense_Mutation	G	C	p.G114A
GSU_STOMACH	95941678	95941880	95941724	95941724	Missense_Mutation	G	C	p.G114A
NCIH1435_LUNG	95941617	95941880	95941754	95941754	Missense_Mutation	G	T	p.G124V
NCIH1435_LUNG	95941678	95941880	95941754	95941754	Missense_Mutation	G	T	p.G124V
MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95941617	95941880	95941834	95941834	Missense_Mutation	C	T	p.R151C
MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95941678	95941880	95941834	95941834	Missense_Mutation	C	T	p.R151C
OE33_OESOPHAGUS	95941617	95941880	95941834	95941834	Missense_Mutation	C	T	p.R151C
OE33_OESOPHAGUS	95941678	95941880	95941834	95941834	Missense_Mutation	C	T	p.R151C
GT3TKB_STOMACH	95941617	95941880	95941867	95941867	Missense_Mutation	A	C	p.T162P
GT3TKB_STOMACH	95941678	95941880	95941867	95941867	Missense_Mutation	A	C	p.T162P
KYSE70_OESOPHAGUS	95941975	95942095	95941992	95941992	Missense_Mutation	C	A	p.A172D
KE39_STOMACH	95942720	95942809	95942732	95942732	Missense_Mutation	G	A	p.S232N
TE11_OESOPHAGUS	95942720	95942809	95942732	95942732	Missense_Mutation	G	A	p.S232N
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95942720	95942809	95942732	95942732	Missense_Mutation	G	A	p.S232N
22RV1_PROSTATE	95942720	95942809	95942743	95942743	Missense_Mutation	G	A	p.A236T
SISO_CERVIX	95942720	95942809	95942744	95942744	Missense_Mutation	C	A	p.A236E
RH18_SOFT_TISSUE	95942720	95942809	95942744	95942744	Missense_Mutation	C	T	p.A236V
D392MG_CENTRAL_NERVOUS_SYSTEM	95943112	95943244	95943127	95943127	Missense_Mutation	T	C	p.V263A
JHH7_LIVER	95943112	95943244	95943211	95943211	Missense_Mutation	G	A	p.R291Q
NCIH2081_LUNG	95943112	95943244	95943232	95943232	Missense_Mutation	T	C	p.L298P
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95944469	95944532	95944481	95944481	Missense_Mutation	T	C	p.F355L
IGR1_SKIN	95946990	95947113	95947030	95947030	Missense_Mutation	C	A	p.L490I
NCIH630_LARGE_INTESTINE	95950717	95950863	95950732	95950732	Missense_Mutation	C	T	p.R582W
MDAMB453_BREAST	95950717	95950863	95950759	95950759	Missense_Mutation	G	A	p.D591N
M14_SKIN	95950717	95950863	95950825	95950825	Missense_Mutation	G	A	p.G613R
MDAMB435S_SKIN	95950717	95950863	95950825	95950825	Missense_Mutation	G	A	p.G613R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PROM2

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 PROM2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PROM2

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RelatedDrugs for PROM2

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 PROM2

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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