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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for SORBS1

check button Gene summary
Gene informationGene symbol

SORBS1

Gene ID

10580

Gene namesorbin and SH3 domain containing 1
SynonymsCAP|FLAF2|R85FL|SH3D5|SH3P12|SORB1
Cytomap

10q24.1

Type of geneprotein-coding
Descriptionsorbin and SH3 domain-containing protein 1Fas-ligand associated factor 2SH3 domain protein 5c-Cbl associated proteinponsin
Modification date20180519
UniProtAcc

Q9BX66

ContextPubMed: SORBS1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for SORBS1 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for SORBS1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for SORBS1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_523671097074815:97074883:97078076:97078189:97081719:9708177897078076:97078189ENSG00000095637.16ENST00000371239.1,ENST00000353505.5,ENST00000361941.3,ENST00000347291.4,ENST00000393949.1,ENST00000371245.3,ENST00000607232.1,ENST00000371249.2,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4,ENST00000306402.6,ENS
exon_skip_523701097078076:97078189:97081719:97081778:97098889:9709908497081719:97081778ENSG00000095637.16ENST00000371239.1,ENST00000347291.4,ENST00000393949.1,ENST00000607232.1,ENST00000371249.2,ENST00000354106.3,ENST00000306402.6,ENST00000371241.1
exon_skip_523731097081719:97081778:97082502:97082562:97096277:9709656297082502:97082562ENSG00000095637.16ENST00000371227.4
exon_skip_523741097081719:97081778:97082502:97082562:97098889:9709908497082502:97082562ENSG00000095637.16ENST00000353505.5,ENST00000371245.3
exon_skip_523761097081719:97081778:97096277:97096562:97098889:9709908497096277:97096562ENSG00000095637.16ENST00000371246.2,ENST00000277982.5
exon_skip_523771097081719:97081778:97096277:97097051:97098889:9709908497096277:97097051ENSG00000095637.16ENST00000361941.3,ENST00000371247.2
exon_skip_523781097081719:97081778:97098889:97099084:97101041:9710116797098889:97099084ENSG00000095637.16ENST00000371239.1,ENST00000347291.4,ENST00000393949.1,ENST00000607232.1,ENST00000371249.2,ENST00000354106.3,ENST00000306402.6,ENST00000371241.1
exon_skip_523851097082502:97082562:97096277:97097051:97098889:9709908497096277:97097051ENSG00000095637.16ENST00000371227.4
exon_skip_523861097101041:97101167:97101320:97101435:97106162:9710620997101320:97101435ENSG00000095637.16ENST00000371239.1,ENST00000353505.5,ENST00000361941.3,ENST00000347291.4,ENST00000393949.1,ENST00000371245.3,ENST00000607232.1,ENST00000371249.2,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4,ENST00000306402.6,ENS
exon_skip_523871097101430:97101435:97106162:97106209:97114638:9711472497106162:97106209ENSG00000095637.16ENST00000371228.2,ENST00000371249.2,ENST00000371241.1
exon_skip_523891097106162:97106209:97110965:97111133:97114638:9711471897110965:97111133ENSG00000095637.16ENST00000371239.1,ENST00000353505.5,ENST00000361941.3,ENST00000347291.4,ENST00000393949.1,ENST00000371245.3,ENST00000607232.1,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4,ENST00000306402.6
exon_skip_523901097106162:97106209:97110972:97111133:97114638:9711471897110972:97111133ENSG00000095637.16ENST00000474353.2
exon_skip_523931097114638:97114724:97115383:97116862:97117387:9711753497115383:97116862ENSG00000095637.16ENST00000607232.1
exon_skip_523941097127406:97127456:97131082:97131184:97131740:9713180697131082:97131184ENSG00000095637.16ENST00000361941.3,ENST00000393949.1,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4
exon_skip_523951097127406:97127456:97131082:97131184:97135729:9713581397131082:97131184ENSG00000095637.16ENST00000371239.1,ENST00000607232.1
exon_skip_523971097127406:97127456:97131740:97131806:97135729:9713581397131740:97131806ENSG00000095637.16ENST00000353505.5,ENST00000371245.3
exon_skip_523991097127406:97127456:97135729:97135813:97141441:9714155697135729:97135813ENSG00000095637.16ENST00000347291.4
exon_skip_524001097131082:97131184:97131740:97131806:97135729:9713581397131740:97131806ENSG00000095637.16ENST00000361941.3,ENST00000393949.1,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4
exon_skip_524021097131082:97131184:97135729:97135813:97141441:9714155697135729:97135813ENSG00000095637.16ENST00000371239.1,ENST00000607232.1
exon_skip_524051097131740:97131806:97135729:97135813:97141441:9714155697135729:97135813ENSG00000095637.16ENST00000353505.5,ENST00000361941.3,ENST00000393949.1,ENST00000371245.3,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4
exon_skip_524061097143807:97143871:97143994:97144042:97156976:9715704097143994:97144042ENSG00000095637.16ENST00000371239.1,ENST00000353505.5,ENST00000371245.3,ENST00000474353.2,ENST00000607232.1,ENST00000465489.1,ENST00000371249.2,ENST00000371227.4,ENST00000306402.6,ENST00000371241.1
exon_skip_524081097143994:97144042:97146747:97146876:97154757:9715483297146747:97146876ENSG00000095637.16ENST00000371246.2,ENST00000277982.5
exon_skip_524121097143994:97144042:97154367:97154430:97154757:9715483297154367:97154430ENSG00000095637.16ENST00000361941.3,ENST00000347291.4,ENST00000371247.2
exon_skip_524171097143994:97144042:97154757:97154832:97156976:9715704097154757:97154832ENSG00000095637.16ENST00000393949.1,ENST00000354106.3
exon_skip_524201097146747:97146876:97154757:97154832:97156976:9715704097154757:97154832ENSG00000095637.16ENST00000371246.2,ENST00000277982.5
exon_skip_524211097154367:97154430:97154757:97154832:97156976:9715704097154757:97154832ENSG00000095637.16ENST00000361941.3,ENST00000347291.4,ENST00000371247.2
exon_skip_524231097158773:97158946:97165874:97165904:97170389:9717053497165874:97165904ENSG00000095637.16ENST00000486141.2,ENST00000371239.1,ENST00000353505.5,ENST00000361941.3,ENST00000347291.4,ENST00000393949.1,ENST00000371245.3,ENST00000474353.2,ENST00000465489.1,ENST00000371249.2,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENS
exon_skip_524251097170389:97170534:97174250:97174412:97181717:9718183097174250:97174412ENSG00000095637.16ENST00000353505.5,ENST00000371245.3
exon_skip_524261097170389:97170534:97174250:97174619:97175225:9717545297174250:97174619ENSG00000095637.16ENST00000474353.2
exon_skip_524281097170389:97170534:97174250:97174619:97181717:9718183097174250:97174619ENSG00000095637.16ENST00000361941.3,ENST00000393949.1,ENST00000371249.2,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4
exon_skip_524411097174586:97174619:97175225:97175942:97181717:9718183097175225:97175942ENSG00000095637.16ENST00000474353.2
exon_skip_524421097181717:97181830:97181946:97181973:97192204:9719233397181946:97181973ENSG00000095637.16ENST00000371239.1,ENST00000353505.5,ENST00000361941.3,ENST00000371245.3,ENST00000607232.1,ENST00000371249.2,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000371227.4,ENST00000306402.6
exon_skip_524431097192204:97192333:97194378:97194474:97197246:9719731297194378:97194474ENSG00000095637.16ENST00000353505.5,ENST00000361941.3,ENST00000347291.4,ENST00000393949.1,ENST00000371245.3,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4,ENST00000306402.6
exon_skip_524491097200882:97200937:97250791:97250877:97321076:9732111297250791:97250877ENSG00000095637.16ENST00000353505.5,ENST00000347291.4,ENST00000393949.1,ENST00000474353.2,ENST00000607232.1,ENST00000371249.2,ENST00000371246.2,ENST00000371247.2,ENST00000306402.6

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for SORBS1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_523671097074815:97074883:97078076:97078189:97081719:9708177897078076:97078189ENSG00000095637.16ENST00000371227.4,ENST00000371249.2,ENST00000306402.6,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000353505.5,ENST00000347291.4,ENST00000607232.1,ENST00000361941.3,ENST00000277982.5,ENST00000371245.3,ENST00000371241.1,ENST00000354106.3,ENS
exon_skip_523701097078076:97078189:97081719:97081778:97098889:9709908497081719:97081778ENSG00000095637.16ENST00000371249.2,ENST00000306402.6,ENST00000393949.1,ENST00000347291.4,ENST00000607232.1,ENST00000371241.1,ENST00000354106.3,ENST00000371239.1
exon_skip_523731097081719:97081778:97082502:97082562:97096277:9709656297082502:97082562ENSG00000095637.16ENST00000371227.4
exon_skip_523741097081719:97081778:97082502:97082562:97098889:9709908497082502:97082562ENSG00000095637.16ENST00000353505.5,ENST00000371245.3
exon_skip_523761097081719:97081778:97096277:97096562:97098889:9709908497096277:97096562ENSG00000095637.16ENST00000371246.2,ENST00000277982.5
exon_skip_523771097081719:97081778:97096277:97097051:97098889:9709908497096277:97097051ENSG00000095637.16ENST00000371247.2,ENST00000361941.3
exon_skip_523781097081719:97081778:97098889:97099084:97101041:9710116797098889:97099084ENSG00000095637.16ENST00000371249.2,ENST00000306402.6,ENST00000393949.1,ENST00000347291.4,ENST00000607232.1,ENST00000371241.1,ENST00000354106.3,ENST00000371239.1
exon_skip_523851097082502:97082562:97096277:97097051:97098889:9709908497096277:97097051ENSG00000095637.16ENST00000371227.4
exon_skip_523861097101041:97101167:97101320:97101435:97106162:9710620997101320:97101435ENSG00000095637.16ENST00000371227.4,ENST00000371249.2,ENST00000306402.6,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000353505.5,ENST00000347291.4,ENST00000607232.1,ENST00000361941.3,ENST00000277982.5,ENST00000371245.3,ENST00000371241.1,ENST00000354106.3,ENS
exon_skip_523871097101430:97101435:97106162:97106209:97114638:9711472497106162:97106209ENSG00000095637.16ENST00000371249.2,ENST00000371241.1,ENST00000371228.2
exon_skip_523891097106162:97106209:97110965:97111133:97114638:9711471897110965:97111133ENSG00000095637.16ENST00000371227.4,ENST00000306402.6,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000353505.5,ENST00000347291.4,ENST00000607232.1,ENST00000361941.3,ENST00000277982.5,ENST00000371245.3,ENST00000354106.3,ENST00000371239.1
exon_skip_523901097106162:97106209:97110972:97111133:97114638:9711471897110972:97111133ENSG00000095637.16ENST00000474353.2
exon_skip_523931097114638:97114724:97115383:97116862:97117387:9711753497115383:97116862ENSG00000095637.16ENST00000607232.1
exon_skip_523941097127406:97127456:97131082:97131184:97131740:9713180697131082:97131184ENSG00000095637.16ENST00000371227.4,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000361941.3,ENST00000277982.5,ENST00000354106.3
exon_skip_523951097127406:97127456:97131082:97131184:97135729:9713581397131082:97131184ENSG00000095637.16ENST00000607232.1,ENST00000371239.1
exon_skip_523971097127406:97127456:97131740:97131806:97135729:9713581397131740:97131806ENSG00000095637.16ENST00000353505.5,ENST00000371245.3
exon_skip_523991097127406:97127456:97135729:97135813:97141441:9714155697135729:97135813ENSG00000095637.16ENST00000347291.4
exon_skip_524001097131082:97131184:97131740:97131806:97135729:9713581397131740:97131806ENSG00000095637.16ENST00000371227.4,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000361941.3,ENST00000277982.5,ENST00000354106.3
exon_skip_524021097131082:97131184:97135729:97135813:97141441:9714155697135729:97135813ENSG00000095637.16ENST00000607232.1,ENST00000371239.1
exon_skip_524051097131740:97131806:97135729:97135813:97141441:9714155697135729:97135813ENSG00000095637.16ENST00000371227.4,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000353505.5,ENST00000361941.3,ENST00000277982.5,ENST00000371245.3,ENST00000354106.3
exon_skip_524061097143807:97143871:97143994:97144042:97156976:9715704097143994:97144042ENSG00000095637.16ENST00000371227.4,ENST00000371249.2,ENST00000306402.6,ENST00000353505.5,ENST00000607232.1,ENST00000371245.3,ENST00000371241.1,ENST00000371239.1,ENST00000474353.2,ENST00000465489.1
exon_skip_524081097143994:97144042:97146747:97146876:97154757:9715483297146747:97146876ENSG00000095637.16ENST00000371246.2,ENST00000277982.5
exon_skip_524121097143994:97144042:97154367:97154430:97154757:9715483297154367:97154430ENSG00000095637.16ENST00000371247.2,ENST00000347291.4,ENST00000361941.3
exon_skip_524171097143994:97144042:97154757:97154832:97156976:9715704097154757:97154832ENSG00000095637.16ENST00000393949.1,ENST00000354106.3
exon_skip_524201097146747:97146876:97154757:97154832:97156976:9715704097154757:97154832ENSG00000095637.16ENST00000371246.2,ENST00000277982.5
exon_skip_524211097154367:97154430:97154757:97154832:97156976:9715704097154757:97154832ENSG00000095637.16ENST00000371247.2,ENST00000347291.4,ENST00000361941.3
exon_skip_524231097158773:97158946:97165874:97165904:97170389:9717053497165874:97165904ENSG00000095637.16ENST00000371227.4,ENST00000371249.2,ENST00000306402.6,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000353505.5,ENST00000347291.4,ENST00000361941.3,ENST00000277982.5,ENST00000371245.3,ENST00000371241.1,ENST00000354106.3,ENST00000371239.1,ENS
exon_skip_524251097170389:97170534:97174250:97174412:97181717:9718183097174250:97174412ENSG00000095637.16ENST00000353505.5,ENST00000371245.3
exon_skip_524261097170389:97170534:97174250:97174619:97175225:9717545297174250:97174619ENSG00000095637.16ENST00000474353.2
exon_skip_524281097170389:97170534:97174250:97174619:97181717:9718183097174250:97174619ENSG00000095637.16ENST00000371227.4,ENST00000371249.2,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000361941.3,ENST00000277982.5,ENST00000354106.3
exon_skip_524411097174586:97174619:97175225:97175942:97181717:9718183097175225:97175942ENSG00000095637.16ENST00000474353.2
exon_skip_524421097181717:97181830:97181946:97181973:97192204:9719233397181946:97181973ENSG00000095637.16ENST00000371227.4,ENST00000371249.2,ENST00000306402.6,ENST00000371247.2,ENST00000371246.2,ENST00000353505.5,ENST00000607232.1,ENST00000361941.3,ENST00000277982.5,ENST00000371245.3,ENST00000371239.1
exon_skip_524431097192204:97192333:97194378:97194474:97197246:9719731297194378:97194474ENSG00000095637.16ENST00000371227.4,ENST00000306402.6,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000353505.5,ENST00000347291.4,ENST00000361941.3,ENST00000277982.5,ENST00000371245.3,ENST00000354106.3
exon_skip_524491097200882:97200937:97250791:97250877:97321076:9732111297250791:97250877ENSG00000095637.16ENST00000371249.2,ENST00000306402.6,ENST00000371247.2,ENST00000371246.2,ENST00000393949.1,ENST00000353505.5,ENST00000347291.4,ENST00000607232.1,ENST00000474353.2

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for SORBS1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000037124797250791972508773UTR-3UTR
ENST000003619419707807697078189Frame-shift
ENST000003712479707807697078189Frame-shift
ENST000003619419710132097101435Frame-shift
ENST000003712479710132097101435Frame-shift
ENST000003619419709627797097051In-frame
ENST000003712479709627797097051In-frame
ENST000003619419711096597111133In-frame
ENST000003712479711096597111133In-frame
ENST000003619419713108297131184In-frame
ENST000003712479713108297131184In-frame
ENST000003619419713174097131806In-frame
ENST000003712479713174097131806In-frame
ENST000003619419713572997135813In-frame
ENST000003712479713572997135813In-frame
ENST000003619419715436797154430In-frame
ENST000003712479715436797154430In-frame
ENST000003619419715475797154832In-frame
ENST000003712479715475797154832In-frame
ENST000003619419716587497165904In-frame
ENST000003712479716587497165904In-frame
ENST000003619419717425097174619In-frame
ENST000003712479717425097174619In-frame
ENST000003619419718194697181973In-frame
ENST000003712479718194697181973In-frame
ENST000003619419719437897194474In-frame
ENST000003712479719437897194474In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000037124797250791972508773UTR-3UTR
ENST000003619419707807697078189Frame-shift
ENST000003712479707807697078189Frame-shift
ENST000003619419710132097101435Frame-shift
ENST000003712479710132097101435Frame-shift
ENST000003619419709627797097051In-frame
ENST000003712479709627797097051In-frame
ENST000003619419711096597111133In-frame
ENST000003712479711096597111133In-frame
ENST000003619419713108297131184In-frame
ENST000003712479713108297131184In-frame
ENST000003619419713174097131806In-frame
ENST000003712479713174097131806In-frame
ENST000003619419713572997135813In-frame
ENST000003712479713572997135813In-frame
ENST000003619419715436797154430In-frame
ENST000003712479715436797154430In-frame
ENST000003619419715475797154832In-frame
ENST000003712479715475797154832In-frame
ENST000003619419716587497165904In-frame
ENST000003712479716587497165904In-frame
ENST000003619419717425097174619In-frame
ENST000003712479717425097174619In-frame
ENST000003619419718194697181973In-frame
ENST000003712479718194697181973In-frame
ENST000003619419719437897194474In-frame
ENST000003712479719437897194474In-frame

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Infer the effects of exon skipping event on protein functional features for SORBS1

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003619413957129297194378971944741041992557
ENST000003712477371129297194378971944742673622557
ENST00000361941395712929717425097174619469837147270
ENST000003712477371129297174250971746196321000147270
ENST000003619413957129297165874971659049831012318328
ENST0000037124773711292971658749716590411461175318328
ENST0000036194139571292971547579715483212501324407432
ENST0000037124773711292971547579715483214131487407432
ENST0000036194139571292971543679715443013251387432453
ENST0000037124773711292971543679715443014881550432453
ENST0000036194139571292971357299713581316811764551579
ENST0000037124773711292971357299713581318441927551579
ENST0000036194139571292971317409713180617651830579601
ENST0000037124773711292971317409713180619281993579601
ENST0000036194139571292971310829713118418311932601635
ENST0000037124773711292971310829713118419942095601635
ENST0000036194139571292971109659711113322422409738794
ENST0000037124773711292971109659711113324052572738794
ENST00000361941395712929709627797097051289336669551213
ENST00000371247737112929709627797097051305638299551213

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003619413957129297194378971944741041992557
ENST000003712477371129297194378971944742673622557
ENST00000361941395712929717425097174619469837147270
ENST000003712477371129297174250971746196321000147270
ENST000003619413957129297165874971659049831012318328
ENST0000037124773711292971658749716590411461175318328
ENST0000036194139571292971547579715483212501324407432
ENST0000037124773711292971547579715483214131487407432
ENST0000036194139571292971543679715443013251387432453
ENST0000037124773711292971543679715443014881550432453
ENST0000036194139571292971357299713581316811764551579
ENST0000037124773711292971357299713581318441927551579
ENST0000036194139571292971317409713180617651830579601
ENST0000037124773711292971317409713180619281993579601
ENST0000036194139571292971310829713118418311932601635
ENST0000037124773711292971310829713118419942095601635
ENST0000036194139571292971109659711113322422409738794
ENST0000037124773711292971109659711113324052572738794
ENST00000361941395712929709627797097051289336669551213
ENST00000371247737112929709627797097051305638299551213

check button 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 featureDescription of feature


check button 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 featureDescription of feature


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SNVs in the skipped exons for SORBS1

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

check button - Differential PSIs between mutated versus non-mutated samples.
SORBS1_BRCA_exon_skip_52376_psi_boxplot.png
boxplot
SORBS1_LUAD_exon_skip_52425_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_52367
97078077970781899707809997078099Frame_Shift_DelT-p.K1263fs
LIHCTCGA-G3-A3CJ-01exon_skip_52385
exon_skip_52377
97096278970970519709673697096736Frame_Shift_DelT-p.T1061fs
ESCATCGA-RE-A7BO-01exon_skip_52393
97115384971168629711613997116139Frame_Shift_DelC-p.G718fs
LIHCTCGA-DD-A39Y-01exon_skip_52393
97115384971168629711616697116166Frame_Shift_DelT-p.K709fs
LIHCTCGA-DD-A3A0-01exon_skip_52393
97115384971168629711627797116277Frame_Shift_DelC-p.G672fs
LIHCTCGA-DD-A1EG-01exon_skip_52421
exon_skip_52420
exon_skip_52417
97154758971548329715476497154764Frame_Shift_DelA-p.S431fs
LIHCTCGA-G3-A3CJ-01exon_skip_52421
exon_skip_52420
exon_skip_52417
97154758971548329715476797154767Frame_Shift_DelT-p.T430fs
ESCATCGA-2H-A9GH-01exon_skip_52423
97165875971659049716589497165894Frame_Shift_DelT-p.K322fs
LIHCTCGA-G3-A3CJ-01exon_skip_52426
exon_skip_52428
97174251971746199717449197174491Frame_Shift_DelG-p.P190fs
STADTCGA-HF-7132-01exon_skip_52367
97078077970781899707807797078078Frame_Shift_Ins-Ap.G1271fs
BRCATCGA-A8-A092-01exon_skip_52376
97096278970965629709641797096417Nonsense_MutationGCp.S1167*
BRCATCGA-A8-A092-01exon_skip_52385
exon_skip_52377
97096278970970519709641797096417Nonsense_MutationGCp.S1167*
COADTCGA-A6-2672-01exon_skip_52385
exon_skip_52377
97096278970970519709677897096778Nonsense_MutationGAp.R1047X
UCECTCGA-AX-A0J1-01exon_skip_52385
exon_skip_52377
97096278970970519709677897096778Nonsense_MutationGAp.R1047*
UCECTCGA-BS-A0UV-01exon_skip_52406
97143995971440429714400997144009Nonsense_MutationGTp.S465*
UCECTCGA-D1-A101-01exon_skip_52423
97165875971659049716589397165893Nonsense_MutationGAp.R323*
LUADTCGA-05-4389-01exon_skip_52425
97174251971744129717426897174268Nonsense_MutationCAp.G265*
LUADTCGA-05-4389-01exon_skip_52426
exon_skip_52428
97174251971746199717426897174268Nonsense_MutationCAp.G265*
CESCTCGA-Q1-A73O-01exon_skip_52412
97154368971544309715443197154431Splice_SiteCTe13-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SORBS1_97170389_97170534_97174250_97174619_97181717_97181830_TCGA-05-4389-01Sample: TCGA-05-4389-01
Cancer type: LUAD
ESID: exon_skip_52428
Skipped exon start: 97174251
Skipped exon end: 97174619
Mutation start: 97174268
Mutation end: 97174268
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.G265*
SORBS1_97170389_97170534_97174250_97174619_97181717_97181830_TCGA-05-4389-01Sample: TCGA-05-4389-01
Cancer type: LUAD
ESID: exon_skip_52425
Skipped exon start: 97174251
Skipped exon end: 97174412
Mutation start: 97174268
Mutation end: 97174268
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.G265*
exon_skip_127162_LUAD_TCGA-05-4389-01.png
boxplot
exon_skip_425876_LUAD_TCGA-05-4389-01.png
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exon_skip_52425_LUAD_TCGA-05-4389-01.png
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exon_skip_52428_LUAD_TCGA-05-4389-01.png
boxplot
SORBS1_97170389_97170534_97174250_97174412_97181717_97181830_TCGA-05-4389-01Sample: TCGA-05-4389-01
Cancer type: LUAD
ESID: exon_skip_52428
Skipped exon start: 97174251
Skipped exon end: 97174619
Mutation start: 97174268
Mutation end: 97174268
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.G265*
SORBS1_97170389_97170534_97174250_97174412_97181717_97181830_TCGA-05-4389-01Sample: TCGA-05-4389-01
Cancer type: LUAD
ESID: exon_skip_52425
Skipped exon start: 97174251
Skipped exon end: 97174412
Mutation start: 97174268
Mutation end: 97174268
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.G265*
exon_skip_127162_LUAD_TCGA-05-4389-01.png
boxplot
exon_skip_425876_LUAD_TCGA-05-4389-01.png
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exon_skip_52425_LUAD_TCGA-05-4389-01.png
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exon_skip_52428_LUAD_TCGA-05-4389-01.png
boxplot
SORBS1_97143994_97144042_97154757_97154832_97156976_97157040_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_52417
Skipped exon start: 97154758
Skipped exon end: 97154832
Mutation start: 97154764
Mutation end: 97154764
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.S431fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
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SORBS1_97114638_97114724_97115383_97116862_97117387_97117534_TCGA-RE-A7BO-01Sample: TCGA-RE-A7BO-01
Cancer type: ESCA
ESID: exon_skip_52393
Skipped exon start: 97115384
Skipped exon end: 97116862
Mutation start: 97116139
Mutation end: 97116139
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G718fs
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SORBS1_97114638_97114724_97115383_97116862_97117387_97117534_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_52393
Skipped exon start: 97115384
Skipped exon end: 97116862
Mutation start: 97116166
Mutation end: 97116166
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K709fs
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SORBS1_97081719_97081778_97096277_97097051_97098889_97099084_TCGA-A8-A092-01Sample: TCGA-A8-A092-01
Cancer type: BRCA
ESID: exon_skip_52377
Skipped exon start: 97096278
Skipped exon end: 97097051
Mutation start: 97096417
Mutation end: 97096417
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: C
AAchange: p.S1167*
SORBS1_97081719_97081778_97096277_97097051_97098889_97099084_TCGA-A8-A092-01Sample: TCGA-A8-A092-01
Cancer type: BRCA
ESID: exon_skip_52376
Skipped exon start: 97096278
Skipped exon end: 97096562
Mutation start: 97096417
Mutation end: 97096417
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: C
AAchange: p.S1167*
exon_skip_52376_BRCA_TCGA-A8-A092-01.png
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SORBS1_97081719_97081778_97096277_97096562_97098889_97099084_TCGA-A8-A092-01Sample: TCGA-A8-A092-01
Cancer type: BRCA
ESID: exon_skip_52377
Skipped exon start: 97096278
Skipped exon end: 97097051
Mutation start: 97096417
Mutation end: 97096417
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: C
AAchange: p.S1167*
SORBS1_97081719_97081778_97096277_97096562_97098889_97099084_TCGA-A8-A092-01Sample: TCGA-A8-A092-01
Cancer type: BRCA
ESID: exon_skip_52376
Skipped exon start: 97096278
Skipped exon end: 97096562
Mutation start: 97096417
Mutation end: 97096417
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: C
AAchange: p.S1167*
exon_skip_52376_BRCA_TCGA-A8-A092-01.png
boxplot
exon_skip_52377_BRCA_TCGA-A8-A092-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
OC316_OVARY97078077970781899707809997078099Frame_Shift_DelT-p.K1263fs
OC314_OVARY97078077970781899707809997078099Frame_Shift_DelT-p.K1263fs
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97096278970970519709698097096980Frame_Shift_DelG-p.P979fs
IGROV1_OVARY97096278970970519709651397096514Frame_Shift_Ins-Cp.A1135fs
IGROV1_OVARY97096278970965629709651397096514Frame_Shift_Ins-Cp.A1135fs
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97078077970781899707812497078124Missense_MutationCTp.G1255E
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97078077970781899707817097078170Missense_MutationAGp.Y1240H
BICR18_UPPER_AERODIGESTIVE_TRACT97082503970825629708251097082510Missense_MutationCTp.S824N
BICR18_UPPER_AERODIGESTIVE_TRACT97082503970825629708254297082542Missense_MutationTGp.R813S
HCC44_LUNG97082503970825629708255497082554Missense_MutationACp.H809Q
SAS_UPPER_AERODIGESTIVE_TRACT97082503970825629708255897082558Missense_MutationGAp.S808F
HEC151_ENDOMETRIUM97096278970970519709631297096312Missense_MutationGAp.A1202V
HEC151_ENDOMETRIUM97096278970965629709631297096312Missense_MutationGAp.A1202V
HS940T_FIBROBLAST97096278970970519709632197096321Missense_MutationCTp.G1199D
HS940T_FIBROBLAST97096278970965629709632197096321Missense_MutationCTp.G1199D
KYSE220_OESOPHAGUS97096278970970519709634997096350Missense_MutationCCTTp.A1190T
KYSE220_OESOPHAGUS97096278970965629709634997096350Missense_MutationCCTTp.A1190T
A2058_SKIN97096278970970519709636097096360Missense_MutationGAp.P1186L
A2058_SKIN97096278970965629709636097096360Missense_MutationGAp.P1186L
SKHEP1_LIVER97096278970970519709636197096361Missense_MutationGAp.P1186S
SKHEP1_LIVER97096278970965629709636197096361Missense_MutationGAp.P1186S
SKMM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97096278970970519709659597096595Missense_MutationTGp.S1108R
SNU1033_LARGE_INTESTINE97096278970970519709667597096675Missense_MutationTCp.H1081R
SW954_VULVA97096278970970519709667697096676Missense_MutationGAp.H1081Y
NCIH2087_LUNG97096278970970519709674597096745Missense_MutationGAp.P1058S
RL952_ENDOMETRIUM97096278970970519709679097096790Missense_MutationGAp.R1043C
C4I_CERVIX97096278970970519709679597096795Missense_MutationGAp.S1041L
NCIH1105_LUNG97096278970970519709682897096828Missense_MutationGTp.S1030Y
NB14_AUTONOMIC_GANGLIA97096278970970519709684897096848Missense_MutationCAp.L1023F
SNU1040_LARGE_INTESTINE97096278970970519709685397096853Missense_MutationCTp.A1022T
JHH7_LIVER97096278970970519709689197096891Missense_MutationGAp.P1009L
SW684_SOFT_TISSUE97096278970970519709699997096999Missense_MutationGAp.S973F
MZ2MEL_SKIN97096278970970519709704497097044Missense_MutationCTp.S958N
BICR18_UPPER_AERODIGESTIVE_TRACT97098890970990849709890097098900Missense_MutationGAp.A952V
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97098890970990849709890797098907Missense_MutationCTp.A950T
C4I_CERVIX97098890970990849709892497098924Missense_MutationGTp.S944Y
KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97098890970990849709892797098927Missense_MutationGAp.S943F
EN_ENDOMETRIUM97098890970990849709894597098945Missense_MutationTCp.Y937C
COLO792_SKIN97098890970990849709902797099027Missense_MutationGAp.P910S
MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97101321971014359710133497101334Missense_MutationCTp.R844H
HEC59_ENDOMETRIUM97101321971014359710133497101334Missense_MutationCTp.R844H
KPMRTRY_SOFT_TISSUE97101321971014359710139997101399Missense_MutationACp.I822M
SARC9371_BONE97110966971111339711097697110976Missense_MutationGAp.S791F
SARC9371_BONE97110973971111339711097697110976Missense_MutationGAp.S791F
AN3CA_ENDOMETRIUM97110966971111339711104597111045Missense_MutationTCp.H768R
AN3CA_ENDOMETRIUM97110973971111339711104597111045Missense_MutationTCp.H768R
CL40_LARGE_INTESTINE97110966971111339711106997111069Missense_MutationCTp.R760H
CL40_LARGE_INTESTINE97110973971111339711106997111069Missense_MutationCTp.R760H
SNU1272_KIDNEY97110966971111339711112397111123Missense_MutationGAp.A742V
SNU1272_KIDNEY97110973971111339711112397111123Missense_MutationGAp.A742V
HCT15_LARGE_INTESTINE97115384971168629711545097115450Missense_MutationGAp.P948S
KATOIII_STOMACH97115384971168629711562697115626Missense_MutationTGp.D889A
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97115384971168629711575797115757Missense_MutationGCp.D845E
C75_LARGE_INTESTINE97115384971168629711586997115869Missense_MutationTCp.N808S
22RV1_PROSTATE97115384971168629711594897115948Missense_MutationGAp.R782C
CAL51_BREAST97115384971168629711599297115992Missense_MutationAGp.L767P
HCT15_LARGE_INTESTINE97115384971168629711614297116142Missense_MutationCAp.R717L
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97115384971168629711616397116163Missense_MutationGTp.S710Y
TE1_OESOPHAGUS97115384971168629711617897116178Missense_MutationCGp.G705A
HGC27_STOMACH97115384971168629711635097116350Missense_MutationGAp.R648W
MCC13_SKIN97115384971168629711656597116565Missense_MutationCTp.G576E
RKO_LARGE_INTESTINE97115384971168629711674597116745Missense_MutationGAp.A516V
MCC13_SKIN97115384971168629711675797116757Missense_MutationGAp.P512L
SW48_LARGE_INTESTINE97115384971168629711678797116787Missense_MutationGAp.A502V
MFE319_ENDOMETRIUM97115384971168629711681297116812Missense_MutationTCp.S494G
CA922_UPPER_AERODIGESTIVE_TRACT97131083971311849713110297131102Missense_MutationGAp.P629L
DU145_PROSTATE97131083971311849713110897131108Missense_MutationTCp.K627R
NCIH1734_LUNG97143995971440429714399897143998Missense_MutationCAp.D469Y
BICR22_UPPER_AERODIGESTIVE_TRACT97143995971440429714400997144009Missense_MutationGAp.S465L
SNU81_LARGE_INTESTINE97143995971440429714401097144010Missense_MutationACp.S465A
SNUC4_LARGE_INTESTINE97154368971544309715440197154401Missense_MutationAGp.F443L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97154368971544309715442597154425Missense_MutationTCp.N435D
NCIH1155_LUNG97154758971548329715476197154761Missense_MutationCTp.E432K
HCC1954_BREAST97174251971746199717438297174382Missense_MutationCTp.A227T
HCC1954_BREAST97174251971744129717438297174382Missense_MutationCTp.A227T
SNU1040_LARGE_INTESTINE97174251971746199717438497174384Missense_MutationCTp.R226H
SNU1040_LARGE_INTESTINE97174251971744129717438497174384Missense_MutationCTp.R226H
SNUC2A_LARGE_INTESTINE97174251971746199717453197174531Missense_MutationGAp.A177V
SNUC2B_LARGE_INTESTINE97174251971746199717453197174531Missense_MutationGAp.A177V
NCIH446_LUNG97174251971746199717455697174556Missense_MutationTCp.T169A
NCIH2126_LUNG97174251971746199717457697174576Missense_MutationAGp.V162A
HUH1_LIVER97174251971746199717459297174592Missense_MutationGAp.P157S
HEC1A_ENDOMETRIUM97194379971944749719442397194423Missense_MutationGTp.P43H
MOT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97194379971944749719443097194430Missense_MutationTCp.I41V
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97096278970970519709677897096778Nonsense_MutationGAp.R1047*
TE5_OESOPHAGUS97098890970990849709901597099015Nonsense_MutationGAp.R914*
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE97082503970825629708256197082561Splice_SiteAGp.L807P
BICR18_UPPER_AERODIGESTIVE_TRACT97082503970825629708256197082561Splice_SiteAGp.L807P
KATOIII_STOMACH97165875971659049716590497165904Splice_SiteTGp.E319A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SORBS1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_524261097170389:97170534:97174250:97174619:97175225:9717545297174250:97174619ENST00000474353.2GBMrs11188316chr10:97174269A/G4.43e-04
exon_skip_524261097170389:97170534:97174250:97174619:97175225:9717545297174250:97174619ENST00000474353.2LGGrs11188316chr10:97174269A/G1.96e-06
exon_skip_524261097170389:97170534:97174250:97174619:97175225:9717545297174250:97174619ENST00000474353.2LGGrs11188316chr10:97174269A/G3.81e-04
exon_skip_524081097143994:97144042:97146747:97146876:97154757:9715483297146747:97146876ENST00000371246.2,ENST00000277982.5LGGrs10159602chr10:97146820C/A1.14e-04
exon_skip_523871097101430:97101435:97106162:97106209:97114638:9711472497106162:97106209ENST00000371228.2,ENST00000371249.2,ENST00000371241.1LGGrs726176chr10:97106165C/T1.08e-04
exon_skip_523871097101430:97101435:97106162:97106209:97114638:9711472497106162:97106209ENST00000371228.2,ENST00000371249.2,ENST00000371241.1LGGrs726176chr10:97106165C/T1.62e-04
exon_skip_524281097170389:97170534:97174250:97174619:97181717:9718183097174250:97174619ENST00000361941.3,ENST00000393949.1,ENST00000371249.2,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4GBMrs11188316chr10:97174269A/G4.43e-04
exon_skip_524281097170389:97170534:97174250:97174619:97181717:9718183097174250:97174619ENST00000361941.3,ENST00000393949.1,ENST00000371249.2,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4LGGrs11188316chr10:97174269A/G1.96e-06
exon_skip_524281097170389:97170534:97174250:97174619:97181717:9718183097174250:97174619ENST00000361941.3,ENST00000393949.1,ENST00000371249.2,ENST00000371246.2,ENST00000277982.5,ENST00000371247.2,ENST00000354106.3,ENST00000371227.4LGGrs11188316chr10:97174269A/G3.81e-04
exon_skip_524251097170389:97170534:97174250:97174412:97181717:9718183097174250:97174412ENST00000353505.5,ENST00000371245.3GBMrs11188316chr10:97174269A/G4.43e-04
exon_skip_524251097170389:97170534:97174250:97174412:97181717:9718183097174250:97174412ENST00000353505.5,ENST00000371245.3LGGrs11188316chr10:97174269A/G1.96e-06
exon_skip_524251097170389:97170534:97174250:97174412:97181717:9718183097174250:97174412ENST00000353505.5,ENST00000371245.3LGGrs11188316chr10:97174269A/G3.81e-04
exon_skip_523931097114638:97114724:97115383:97116862:97117387:9711753497115383:97116862ENST00000607232.1BRCArs7076888chr10:97116219C/T3.01e-04
exon_skip_523931097114638:97114724:97115383:97116862:97117387:9711753497115383:97116862ENST00000607232.1LGGrs7076888chr10:97116219C/T1.99e-08
exon_skip_523931097114638:97114724:97115383:97116862:97117387:9711753497115383:97116862ENST00000607232.1LGGrs7076888chr10:97116219C/T4.03e-06
exon_skip_523931097114638:97114724:97115383:97116862:97117387:9711753497115383:97116862ENST00000607232.1KIRCrs7076888chr10:97116219C/T2.53e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SORBS1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SORBS1


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RelatedDrugs for SORBS1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SORBS1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource