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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 SORBS2

check button Gene summary
Gene informationGene symbol

SORBS2

Gene ID

8470

Gene namesorbin and SH3 domain containing 2
SynonymsARGBP2|PRO0618
Cytomap

4q35.1

Type of geneprotein-coding
Descriptionsorbin and SH3 domain-containing protein 2Arg binding protein 2Arg/Abl-interacting protein 2arg-binding protein 2
Modification date20180523
UniProtAcc

O94875

ContextPubMed: SORBS2 [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 SORBS2 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 SORBS2

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 SORBS2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4334314186510832:186510939:186515039:186515089:186532933:186533134186515039:186515089ENSG00000154556.13ENST00000437304.2,ENST00000355634.5,ENST00000448662.2,ENST00000418609.1,ENST00000449407.2,ENST00000431808.1,ENST00000284776.7,ENST00000319471.9,ENST00000393528.3
exon_skip_4334364186541216:186541305:186544067:186545648:186547985:186548063186544067:186545648ENSG00000154556.13ENST00000355634.5,ENST00000418609.1,ENST00000431808.1,ENST00000284776.7
exon_skip_4334374186541216:186541305:186547985:186548173:186551702:186551737186547985:186548173ENSG00000154556.13ENST00000437304.2,ENST00000498125.1,ENST00000448662.2,ENST00000319454.6,ENST00000449407.2,ENST00000451974.1,ENST00000438278.1,ENST00000319471.9,ENST00000393528.3
exon_skip_4334384186551702:186551737:186560030:186560189:186567821:186567936186560030:186560189ENSG00000154556.13ENST00000445625.1
exon_skip_4334394186551702:186551752:186556508:186556565:186559232:186559316186556508:186556565ENSG00000154556.13ENST00000393528.3
exon_skip_4334404186551702:186551752:186556508:186556565:186560030:186560189186556508:186556565ENSG00000154556.13ENST00000437304.2,ENST00000498125.1,ENST00000319454.6,ENST00000319471.9
exon_skip_4334414186551702:186551752:186556508:186556565:186567821:186567936186556508:186556565ENSG00000154556.13ENST00000448662.2,ENST00000451974.1
exon_skip_4334474186556508:186556565:186559232:186559316:186567821:186567936186559232:186559316ENSG00000154556.13ENST00000393528.3
exon_skip_4334484186556508:186556565:186560030:186560189:186567821:186567936186560030:186560189ENSG00000154556.13ENST00000437304.2,ENST00000498125.1,ENST00000319454.6,ENST00000319471.9
exon_skip_4334514186570620:186570810:186572937:186572982:186573815:186573842186572937:186572982ENSG00000154556.13ENST00000437304.2,ENST00000355634.5,ENST00000448662.2,ENST00000319454.6,ENST00000494140.1,ENST00000470685.1,ENST00000431808.1,ENST00000466289.1,ENST00000490562.1,ENST00000445625.1,ENST00000284776.7,ENST00000438278.1,ENST00000492810.1,ENST00000490779.1,ENS
exon_skip_4334594186583388:186583396:186598150:186598792:186599576:186599632186598150:186598792ENSG00000154556.13ENST00000437304.2
exon_skip_4334614186583388:186583396:186599576:186599632:186599949:186599976186599576:186599632ENSG00000154556.13ENST00000430503.1,ENST00000444781.1,ENST00000445115.1,ENST00000457247.1,ENST00000445343.1,ENST00000319454.6,ENST00000421639.1,ENST00000393523.2,ENST00000393528.3,ENST00000450341.1
exon_skip_4334624186583388:186583396:186599576:186599701:186599949:186599976186599576:186599701ENSG00000154556.13ENST00000414724.1,ENST00000451958.1,ENST00000419063.1,ENST00000355634.5,ENST00000493709.1,ENST00000439914.1,ENST00000435480.1,ENST00000448662.2,ENST00000470685.1,ENST00000449407.2,ENST00000456596.1,ENST00000431808.1,ENST00000457934.1,ENST00000431902.1,ENS
exon_skip_4334664186599949:186599976:186605907:186605996:186611715:186611753186605907:186605996ENSG00000154556.13ENST00000449407.2
exon_skip_4334674186599949:186599976:186605907:186606000:186611715:186611753186605907:186606000ENSG00000154556.13ENST00000419063.1,ENST00000421420.1,ENST00000355634.5,ENST00000470685.1,ENST00000451701.1,ENST00000421639.1,ENST00000457934.1,ENST00000432655.1,ENST00000420158.1
exon_skip_4334694186599949:186599976:186605907:186606000:186655252:186655308186605907:186606000ENSG00000154556.13ENST00000414724.1,ENST00000429056.1
exon_skip_4334704186599949:186599976:186605907:186606000:186696380:186696442186605907:186606000ENSG00000154556.13ENST00000444781.1,ENST00000435480.1,ENST00000431808.1,ENST00000463104.1,ENST00000415274.1,ENST00000319471.9
exon_skip_4334714186599949:186599976:186605907:186606000:186696384:186696430186605907:186606000ENSG00000154556.13ENST00000431902.1
exon_skip_4334734186599949:186599976:186611715:186611765:186655252:186655308186611715:186611765ENSG00000154556.13ENST00000430503.1
exon_skip_4334754186599949:186599976:186611715:186611765:186696380:186696442186611715:186611765ENSG00000154556.13ENST00000451958.1,ENST00000319454.6,ENST00000425679.1,ENST00000393528.3
exon_skip_4334764186599949:186599976:186611715:186611765:186696384:186696430186611715:186611765ENSG00000154556.13ENST00000428330.1
exon_skip_4334784186599949:186599976:186655151:186655308:186696380:186696442186655151:186655308ENSG00000154556.13ENST00000450341.1
exon_skip_4334804186599949:186599976:186655252:186655308:186696380:186696442186655252:186655308ENSG00000154556.13ENST00000445115.1,ENST00000456596.1
exon_skip_4334824186599949:186599976:186696213:186696265:186696380:186696442186696213:186696265ENSG00000154556.13ENST00000457247.1
exon_skip_4334834186599949:186599976:186696380:186696520:186732817:186732901186696380:186696520ENSG00000154556.13ENST00000478249.1,ENST00000493709.1,ENST00000393523.2
exon_skip_4334864186605964:186606000:186611715:186611765:186655252:186655308186611715:186611765ENSG00000154556.13ENST00000456060.1
exon_skip_4334874186605964:186606000:186611715:186611765:186696380:186696442186611715:186611765ENSG00000154556.13ENST00000419063.1,ENST00000355634.5,ENST00000470685.1,ENST00000451701.1,ENST00000421639.1,ENST00000457934.1,ENST00000432655.1
exon_skip_4334884186605964:186606000:186611715:186611765:186696384:186696430186611715:186611765ENSG00000154556.13ENST00000420158.1
exon_skip_4334914186605964:186606000:186655252:186655308:186696380:186696442186655252:186655308ENSG00000154556.13ENST00000414724.1,ENST00000429056.1
exon_skip_4334974186611715:186611765:186655252:186655308:186696380:186696442186655252:186655308ENSG00000154556.13ENST00000456060.1
exon_skip_4334984186611715:186611765:186655252:186655308:186696384:186696430186655252:186655308ENSG00000154556.13ENST00000430503.1
exon_skip_4335014186611715:186611765:186696380:186696520:186732817:186732901186696380:186696520ENSG00000154556.13ENST00000451958.1,ENST00000419063.1,ENST00000470685.1,ENST00000449407.2,ENST00000393528.3
exon_skip_4335034186611715:186611765:186696384:186696520:186732817:186732901186696384:186696520ENSG00000154556.13ENST00000428330.1
exon_skip_4335074186696434:186696520:186732817:186732901:186734101:186734278186732817:186732901ENSG00000154556.13ENST00000456060.1
exon_skip_4335084186696434:186696520:186815450:186815527:186854089:186854524186815450:186815527ENSG00000154556.13ENST00000488562.1
exon_skip_4335094186696434:186696520:186815450:186815527:186877349:186877488186815450:186815527ENSG00000154556.13ENST00000355634.5

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

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Exon skipping events with PSIs in GTEx for SORBS2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4334314186510832:186510939:186515039:186515089:186532933:186533134186515039:186515089ENSG00000154556.13ENST00000284776.7,ENST00000448662.2,ENST00000431808.1,ENST00000418609.1,ENST00000437304.2,ENST00000319471.9,ENST00000449407.2,ENST00000355634.5,ENST00000393528.3
exon_skip_4334364186541216:186541305:186544067:186545648:186547985:186548063186544067:186545648ENSG00000154556.13ENST00000284776.7,ENST00000431808.1,ENST00000418609.1,ENST00000355634.5
exon_skip_4334374186541216:186541305:186547985:186548173:186551702:186551737186547985:186548173ENSG00000154556.13ENST00000448662.2,ENST00000437304.2,ENST00000319471.9,ENST00000449407.2,ENST00000393528.3,ENST00000319454.6,ENST00000498125.1,ENST00000451974.1,ENST00000438278.1
exon_skip_4334384186551702:186551737:186560030:186560189:186567821:186567936186560030:186560189ENSG00000154556.13ENST00000445625.1
exon_skip_4334394186551702:186551752:186556508:186556565:186559232:186559316186556508:186556565ENSG00000154556.13ENST00000393528.3
exon_skip_4334404186551702:186551752:186556508:186556565:186560030:186560189186556508:186556565ENSG00000154556.13ENST00000437304.2,ENST00000319471.9,ENST00000319454.6,ENST00000498125.1
exon_skip_4334414186551702:186551752:186556508:186556565:186567821:186567936186556508:186556565ENSG00000154556.13ENST00000448662.2,ENST00000451974.1
exon_skip_4334474186556508:186556565:186559232:186559316:186567821:186567936186559232:186559316ENSG00000154556.13ENST00000393528.3
exon_skip_4334484186556508:186556565:186560030:186560189:186567821:186567936186560030:186560189ENSG00000154556.13ENST00000437304.2,ENST00000319471.9,ENST00000319454.6,ENST00000498125.1
exon_skip_4334514186570620:186570810:186572937:186572982:186573815:186573842186572937:186572982ENSG00000154556.13ENST00000284776.7,ENST00000448662.2,ENST00000431808.1,ENST00000437304.2,ENST00000319471.9,ENST00000355634.5,ENST00000393528.3,ENST00000319454.6,ENST00000438278.1,ENST00000445625.1,ENST00000490562.1,ENST00000492104.1,ENST00000490779.1,ENST00000492810.1,ENS
exon_skip_4334594186583388:186583396:186598150:186598792:186599576:186599632186598150:186598792ENSG00000154556.13ENST00000437304.2
exon_skip_4334614186583388:186583396:186599576:186599632:186599949:186599976186599576:186599632ENSG00000154556.13ENST00000393528.3,ENST00000319454.6,ENST00000445343.1,ENST00000430503.1,ENST00000450341.1,ENST00000445115.1,ENST00000457247.1,ENST00000444781.1,ENST00000393523.2,ENST00000421639.1
exon_skip_4334624186583388:186583396:186599576:186599701:186599949:186599976186599576:186599701ENSG00000154556.13ENST00000284776.7,ENST00000448662.2,ENST00000431808.1,ENST00000319471.9,ENST00000449407.2,ENST00000355634.5,ENST00000470685.1,ENST00000439914.1,ENST00000444771.1,ENST00000456596.1,ENST00000425679.1,ENST00000439049.1,ENST00000451958.1,ENST00000414724.1,ENS
exon_skip_4334664186599949:186599976:186605907:186605996:186611715:186611753186605907:186605996ENSG00000154556.13ENST00000449407.2
exon_skip_4334674186599949:186599976:186605907:186606000:186611715:186611753186605907:186606000ENSG00000154556.13ENST00000355634.5,ENST00000470685.1,ENST00000419063.1,ENST00000420158.1,ENST00000421639.1,ENST00000457934.1,ENST00000432655.1,ENST00000451701.1,ENST00000421420.1
exon_skip_4334694186599949:186599976:186605907:186606000:186655252:186655308186605907:186606000ENSG00000154556.13ENST00000414724.1,ENST00000429056.1
exon_skip_4334704186599949:186599976:186605907:186606000:186696380:186696442186605907:186606000ENSG00000154556.13ENST00000431808.1,ENST00000319471.9,ENST00000444781.1,ENST00000435480.1,ENST00000415274.1,ENST00000463104.1
exon_skip_4334714186599949:186599976:186605907:186606000:186696384:186696430186605907:186606000ENSG00000154556.13ENST00000431902.1
exon_skip_4334734186599949:186599976:186611715:186611765:186655252:186655308186611715:186611765ENSG00000154556.13ENST00000430503.1
exon_skip_4334754186599949:186599976:186611715:186611765:186696380:186696442186611715:186611765ENSG00000154556.13ENST00000393528.3,ENST00000319454.6,ENST00000425679.1,ENST00000451958.1
exon_skip_4334764186599949:186599976:186611715:186611765:186696384:186696430186611715:186611765ENSG00000154556.13ENST00000428330.1
exon_skip_4334784186599949:186599976:186655151:186655308:186696380:186696442186655151:186655308ENSG00000154556.13ENST00000450341.1
exon_skip_4334804186599949:186599976:186655252:186655308:186696380:186696442186655252:186655308ENSG00000154556.13ENST00000445115.1,ENST00000456596.1
exon_skip_4334824186599949:186599976:186696213:186696265:186696380:186696442186696213:186696265ENSG00000154556.13ENST00000457247.1
exon_skip_4334834186599949:186599976:186696380:186696520:186732817:186732901186696380:186696520ENSG00000154556.13ENST00000393523.2,ENST00000493709.1,ENST00000478249.1
exon_skip_4334864186605964:186606000:186611715:186611765:186655252:186655308186611715:186611765ENSG00000154556.13ENST00000456060.1
exon_skip_4334874186605964:186606000:186611715:186611765:186696380:186696442186611715:186611765ENSG00000154556.13ENST00000355634.5,ENST00000470685.1,ENST00000419063.1,ENST00000421639.1,ENST00000457934.1,ENST00000432655.1,ENST00000451701.1
exon_skip_4334884186605964:186606000:186611715:186611765:186696384:186696430186611715:186611765ENSG00000154556.13ENST00000420158.1
exon_skip_4334914186605964:186606000:186655252:186655308:186696380:186696442186655252:186655308ENSG00000154556.13ENST00000414724.1,ENST00000429056.1
exon_skip_4334974186611715:186611765:186655252:186655308:186696380:186696442186655252:186655308ENSG00000154556.13ENST00000456060.1
exon_skip_4334984186611715:186611765:186655252:186655308:186696384:186696430186655252:186655308ENSG00000154556.13ENST00000430503.1
exon_skip_4335074186696434:186696520:186732817:186732901:186734101:186734278186732817:186732901ENSG00000154556.13ENST00000456060.1
exon_skip_4335084186696434:186696520:186815450:186815527:186854089:186854524186815450:186815527ENSG00000154556.13ENST00000488562.1
exon_skip_4335094186696434:186696520:186815450:186815527:186877349:186877488186815450:186815527ENSG00000154556.13ENST00000355634.5

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 SORBS2

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
ENST000002847761865995761865997013UTR-3UTR
ENST00000284776186515039186515089Frame-shift
ENST00000284776186544067186545648In-frame
ENST00000284776186572937186572982In-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
ENST000002847761865995761865997013UTR-3UTR
ENST00000284776186515039186515089Frame-shift
ENST00000284776186544067186545648In-frame
ENST00000284776186572937186572982In-frame

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Infer the effects of exon skipping event on protein functional features for SORBS2

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
ENST0000028477660131100186572937186572982845889111126
ENST000002847766013110018654406718654564814333013307834

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
ENST0000028477660131100186572937186572982845889111126
ENST000002847766013110018654406718654564814333013307834

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 SORBS2

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.
SORBS2_BRCA_exon_skip_433436_psi_boxplot.png
boxplot
SORBS2_BRCA_exon_skip_433459_psi_boxplot.png
boxplot
SORBS2_COAD_exon_skip_433462_psi_boxplot.png
boxplot
SORBS2_ESCA_exon_skip_433436_psi_boxplot.png
boxplot
SORBS2_LIHC_exon_skip_433436_psi_boxplot.png
boxplot
SORBS2_LIHC_exon_skip_433459_psi_boxplot.png
boxplot
SORBS2_PAAD_exon_skip_433436_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
STADTCGA-BR-4368-01exon_skip_433431
186515040186515089186515044186515044Frame_Shift_DelC-p.E1144fs
STADTCGA-BR-4368-01exon_skip_433431
186515040186515089186515044186515044Frame_Shift_DelC-p.E1158fs
STADTCGA-CG-5726-01exon_skip_433431
186515040186515089186515044186515044Frame_Shift_DelC-p.E1144fs
STADTCGA-CG-5726-01exon_skip_433431
186515040186515089186515044186515044Frame_Shift_DelC-p.E1158fs
STADTCGA-HU-A4G9-01exon_skip_433431
186515040186515089186515044186515044Frame_Shift_DelC-p.E1144fs
STADTCGA-HU-A4G9-01exon_skip_433431
186515040186515089186515044186515044Frame_Shift_DelC-p.E1158fs
THYMTCGA-ZB-A966-01exon_skip_433431
186515040186515089186515044186515044Frame_Shift_DelC-p.E1044fs
THYMTCGA-ZB-A966-01exon_skip_433431
186515040186515089186515044186515044Frame_Shift_DelC-p.E1144fs
UCECTCGA-D1-A17F-01exon_skip_433431
186515040186515089186515044186515044Frame_Shift_DelC-p.E1158fs
LIHCTCGA-G3-A3CJ-01exon_skip_433436
186544068186545648186544329186544329Frame_Shift_DelT-p.R748fs
ESCATCGA-L5-A8NM-01exon_skip_433436
186544068186545648186544439186544439Frame_Shift_DelT-p.N711fs
STADTCGA-BR-8372-01exon_skip_433436
186544068186545648186544439186544439Frame_Shift_DelT-p.N811fs
STADTCGA-BR-8372-01exon_skip_433436
186544068186545648186544439186544439Frame_Shift_DelT-p.N825fs
LIHCTCGA-G3-A3CJ-01exon_skip_433436
186544068186545648186545008186545008Frame_Shift_DelT-p.K521fs
LIHCTCGA-DD-A1EG-01exon_skip_433436
186544068186545648186545088186545088Frame_Shift_DelG-p.Q495fs
LIHCTCGA-DD-A1EG-01exon_skip_433436
186544068186545648186545314186545314Frame_Shift_DelG-p.P419fs
LIHCTCGA-DD-A1EG-01exon_skip_433436
186544068186545648186545427186545427Frame_Shift_DelG-p.R382fs
STADTCGA-BR-8372-01exon_skip_433436
186544068186545648186545480186545480Frame_Shift_DelT-p.N364fs
STADTCGA-BR-8372-01exon_skip_433436
186544068186545648186545480186545480Frame_Shift_DelT-p.N464fs
LIHCTCGA-G3-A3CJ-01exon_skip_433441
exon_skip_433440
exon_skip_433439
186556509186556565186556555186556555Frame_Shift_DelT-p.K301fs
LGGTCGA-R8-A6MO-01exon_skip_433447
186559233186559316186559269186559269Frame_Shift_DelC-p.W290fs
LIHCTCGA-DD-A3A0-01exon_skip_433448
exon_skip_433438
186560031186560189186560185186560185Frame_Shift_DelG-p.P409fs
LIHCTCGA-G3-A3CJ-01exon_skip_433459
186598151186598792186598269186598273Frame_Shift_DelTCCTG-p.124_125del
LIHCTCGA-G3-A3CJ-01exon_skip_433459
186598151186598792186598269186598273Frame_Shift_DelTCCTG-p.QD124fs
LIHCTCGA-G3-A3CJ-01exon_skip_433459
186598151186598792186598282186598282Frame_Shift_DelG-p.L121fs
LIHCTCGA-G3-A3CJ-01exon_skip_433459
186598151186598792186598335186598335Frame_Shift_DelG-p.P103fs
BRCATCGA-D8-A1JL-01exon_skip_433459
186598151186598792186598448186598476Frame_Shift_DelGGTAGAAATCCTCCGAGTTTGAGAATCTT-p.Q56fs
LIHCTCGA-DD-A1EG-01exon_skip_433459
186598151186598792186598564186598564Frame_Shift_DelT-p.I27fs
LIHCTCGA-DD-A39Y-01exon_skip_433461
186599577186599632186599628186599628Frame_Shift_DelT-p.K68fs
LIHCTCGA-DD-A39Y-01exon_skip_433462
186599577186599701186599628186599628Frame_Shift_DelT-p.K68fs
COADTCGA-D5-6927-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.E675fs
KIRCTCGA-A3-3313-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.T1044fs
KIRCTCGA-A3-3380-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.T1044fs
KIRCTCGA-AK-3440-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.T1044fs
KIRCTCGA-AK-3453-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.T1044fs
KIRCTCGA-AS-3777-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.T1044fs
LUADTCGA-44-2656-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.E1044fs
LUADTCGA-44-2656-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.T1044fs
LUADTCGA-64-1676-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.T1044fs
UCECTCGA-B5-A0K2-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.E1158fs
UCECTCGA-B5-A0K7-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.E1158fs
UCECTCGA-BG-A0M0-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.E1158fs
UCECTCGA-BG-A0M3-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.E1158fs
UCECTCGA-BG-A0M9-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.E1158fs
UCECTCGA-BS-A0UM-01exon_skip_433431
186515040186515089186515043186515044Frame_Shift_Ins-Cp.E1158fs
BRCATCGA-A8-A09E-01exon_skip_433436
186544068186545648186544746186544747Frame_Shift_Ins-Tp.D608fs
COADTCGA-AD-6964-01exon_skip_433459
186598151186598792186598563186598564Frame_Shift_Ins-Tp.I27fs
LUADTCGA-55-A490-01exon_skip_433431
186515040186515089186515056186515056Nonsense_MutationGAp.Q1040*
LUADTCGA-MP-A4TD-01exon_skip_433431
186515040186515089186515086186515086Nonsense_MutationGAp.Q1030*
PAADTCGA-HZ-A8P0-01exon_skip_433436
186544068186545648186544436186544436Nonsense_MutationGTp.S712*
BLCATCGA-DK-A6AW-01exon_skip_433436
186544068186545648186544572186544572Nonsense_MutationGAp.R667*
UCECTCGA-B5-A11J-01exon_skip_433436
186544068186545648186544809186544809Nonsense_MutationGAp.Q588*
COADTCGA-CA-6717-01exon_skip_433437
186547986186548173186548067186548067Nonsense_MutationGAp.R369X
UCECTCGA-B5-A11E-01exon_skip_433448
exon_skip_433438
186560031186560189186560170186560170Nonsense_MutationGAp.R133*
COADTCGA-CA-6717-01exon_skip_433461
186599577186599632186599612186599612Nonsense_MutationGAp.R43X
COADTCGA-CA-6717-01exon_skip_433462
186599577186599701186599612186599612Nonsense_MutationGAp.R43X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SORBS2_186583388_186583396_186599576_186599701_186599949_186599976_TCGA-CA-6717-01Sample: TCGA-CA-6717-01
Cancer type: COAD
ESID: exon_skip_433437
Skipped exon start: 186547986
Skipped exon end: 186548173
Mutation start: 186548067
Mutation end: 186548067
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R369X
SORBS2_186583388_186583396_186599576_186599701_186599949_186599976_TCGA-CA-6717-01Sample: TCGA-CA-6717-01
Cancer type: COAD
ESID: exon_skip_433461
Skipped exon start: 186599577
Skipped exon end: 186599632
Mutation start: 186599612
Mutation end: 186599612
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R43X
SORBS2_186583388_186583396_186599576_186599701_186599949_186599976_TCGA-CA-6717-01Sample: TCGA-CA-6717-01
Cancer type: COAD
ESID: exon_skip_433462
Skipped exon start: 186599577
Skipped exon end: 186599701
Mutation start: 186599612
Mutation end: 186599612
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R43X
exon_skip_107202_COAD_TCGA-CA-6717-01.png
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exon_skip_135085_COAD_TCGA-CA-6717-01.png
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exon_skip_284772_COAD_TCGA-CA-6717-01.png
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exon_skip_28826_COAD_TCGA-CA-6717-01.png
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exon_skip_304901_COAD_TCGA-CA-6717-01.png
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exon_skip_430052_COAD_TCGA-CA-6717-01.png
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exon_skip_430053_COAD_TCGA-CA-6717-01.png
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exon_skip_433462_COAD_TCGA-CA-6717-01.png
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exon_skip_439050_COAD_TCGA-CA-6717-01.png
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exon_skip_482455_COAD_TCGA-CA-6717-01.png
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exon_skip_503414_COAD_TCGA-CA-6717-01.png
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SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-D8-A1JL-01Sample: TCGA-D8-A1JL-01
Cancer type: BRCA
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598448
Mutation end: 186598476
Mutation type: Frame_Shift_Del
Reference seq: GGTAGAAATCCTCCGAGTTTGAGAATCTT
Mutation seq: -
AAchange: p.Q56fs
exon_skip_433459_BRCA_TCGA-D8-A1JL-01.png
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SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-AD-6964-01Sample: TCGA-AD-6964-01
Cancer type: COAD
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598563
Mutation end: 186598564
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.I27fs
exon_skip_318551_COAD_TCGA-AD-6964-01.png
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exon_skip_318554_COAD_TCGA-AD-6964-01.png
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exon_skip_318555_COAD_TCGA-AD-6964-01.png
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exon_skip_331787_COAD_TCGA-AD-6964-01.png
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exon_skip_433459_COAD_TCGA-AD-6964-01.png
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exon_skip_460583_COAD_TCGA-AD-6964-01.png
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exon_skip_52657_COAD_TCGA-AD-6964-01.png
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exon_skip_52661_COAD_TCGA-AD-6964-01.png
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SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598269
Mutation end: 186598273
Mutation type: Frame_Shift_Del
Reference seq: TCCTG
Mutation seq: -
AAchange: p.124_125del
SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186544329
Mutation end: 186544329
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.R748fs
SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186545008
Mutation end: 186545008
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K521fs
SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433439
Skipped exon start: 186556509
Skipped exon end: 186556565
Mutation start: 186556555
Mutation end: 186556555
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K301fs
SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598269
Mutation end: 186598273
Mutation type: Frame_Shift_Del
Reference seq: TCCTG
Mutation seq: -
AAchange: p.QD124fs
SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598282
Mutation end: 186598282
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.L121fs
SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598335
Mutation end: 186598335
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P103fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
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SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186545088
Mutation end: 186545088
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.Q495fs
SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186545314
Mutation end: 186545314
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P419fs
SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186545427
Mutation end: 186545427
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.R382fs
SORBS2_186583388_186583396_186598150_186598792_186599576_186599632_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598564
Mutation end: 186598564
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.I27fs
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SORBS2_186551702_186551737_186560030_186560189_186567821_186567936_TCGA-B5-A11E-01Sample: TCGA-B5-A11E-01
Cancer type: UCEC
ESID: exon_skip_433438
Skipped exon start: 186560031
Skipped exon end: 186560189
Mutation start: 186560170
Mutation end: 186560170
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R133*
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SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-HZ-A8P0-01Sample: TCGA-HZ-A8P0-01
Cancer type: PAAD
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186544436
Mutation end: 186544436
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: T
AAchange: p.S712*
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SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-B5-A11J-01Sample: TCGA-B5-A11J-01
Cancer type: UCEC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186544809
Mutation end: 186544809
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q588*
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SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-A8-A09E-01Sample: TCGA-A8-A09E-01
Cancer type: BRCA
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186544746
Mutation end: 186544747
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.D608fs
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SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-L5-A8NM-01Sample: TCGA-L5-A8NM-01
Cancer type: ESCA
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186544439
Mutation end: 186544439
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.N711fs
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SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186545088
Mutation end: 186545088
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.Q495fs
SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186545314
Mutation end: 186545314
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P419fs
SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186545427
Mutation end: 186545427
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.R382fs
SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598564
Mutation end: 186598564
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.I27fs
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SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598269
Mutation end: 186598273
Mutation type: Frame_Shift_Del
Reference seq: TCCTG
Mutation seq: -
AAchange: p.124_125del
SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186544329
Mutation end: 186544329
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.R748fs
SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433436
Skipped exon start: 186544068
Skipped exon end: 186545648
Mutation start: 186545008
Mutation end: 186545008
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K521fs
SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433439
Skipped exon start: 186556509
Skipped exon end: 186556565
Mutation start: 186556555
Mutation end: 186556555
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K301fs
SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598269
Mutation end: 186598273
Mutation type: Frame_Shift_Del
Reference seq: TCCTG
Mutation seq: -
AAchange: p.QD124fs
SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598282
Mutation end: 186598282
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.L121fs
SORBS2_186541216_186541305_186544067_186545648_186547985_186548063_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_433459
Skipped exon start: 186598151
Skipped exon end: 186598792
Mutation start: 186598335
Mutation end: 186598335
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P103fs
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186515040186515089186515044186515044Frame_Shift_DelC-p.E1044fs
NUGC3_STOMACH186515040186515089186515044186515044Frame_Shift_DelC-p.E1044fs
SNU407_LARGE_INTESTINE186515040186515089186515044186515044Frame_Shift_DelC-p.E1044fs
SW48_LARGE_INTESTINE186515040186515089186515044186515044Frame_Shift_DelC-p.E1044fs
RKO_LARGE_INTESTINE186544068186545648186544439186544439Frame_Shift_DelT-p.N711fs
HEC6_ENDOMETRIUM186544068186545648186545459186545459Frame_Shift_DelG-p.T371fs
EN_ENDOMETRIUM186544068186545648186544223186544224Frame_Shift_Ins-Gp.L783fs
CL40_LARGE_INTESTINE186544068186545648186544734186544735In_Frame_Ins-GTGAATGTAp.611_612insHYI
NCC010_KIDNEY186515040186515089186515047186515047Missense_MutationCGp.G1043R
LN464_CENTRAL_NERVOUS_SYSTEM186544068186545648186544083186544083Missense_MutationCAp.G830C
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186544068186545648186544154186544154Missense_MutationCAp.G806V
KYSE450_OESOPHAGUS186544068186545648186544216186544216Missense_MutationCGp.Q785H
KYSE50_OESOPHAGUS186544068186545648186544216186544216Missense_MutationCGp.Q785H
JHUEM1_ENDOMETRIUM186544068186545648186544241186544241Missense_MutationGAp.A777V
HCT15_LARGE_INTESTINE186544068186545648186544295186544295Missense_MutationCTp.R759H
HCC2998_LARGE_INTESTINE186544068186545648186544400186544400Missense_MutationTGp.K724T
HCC2998_LARGE_INTESTINE186544068186545648186544436186544436Missense_MutationGAp.S712L
MM415_SKIN186544068186545648186544542186544542Missense_MutationCTp.A677T
NCIH1048_LUNG186544068186545648186544575186544575Missense_MutationTCp.T666A
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186544068186545648186544590186544590Missense_MutationACp.C661G
NCIH2052_PLEURA186544068186545648186544590186544590Missense_MutationACp.C661G
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186544068186545648186544622186544622Missense_MutationTCp.H650R
SKMEL5_SKIN186544068186545648186544688186544688Missense_MutationGAp.S628F
HEC1A_ENDOMETRIUM186544068186545648186544746186544746Missense_MutationCTp.D609N
HKA1_SKIN186544068186545648186544955186544955Missense_MutationGCp.P539R
HEC59_ENDOMETRIUM186544068186545648186545022186545022Missense_MutationTCp.I517V
CW2_LARGE_INTESTINE186544068186545648186545096186545096Missense_MutationGAp.A492V
KYSE140_OESOPHAGUS186544068186545648186545178186545178Missense_MutationTAp.M465L
PL18_PANCREAS186544068186545648186545178186545178Missense_MutationTAp.M465L
DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186544068186545648186545199186545199Missense_MutationGAp.R458C
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186544068186545648186545267186545267Missense_MutationCAp.R435I
BT483_BREAST186544068186545648186545270186545270Missense_MutationCTp.G434D
HCT15_LARGE_INTESTINE186544068186545648186545303186545303Missense_MutationCTp.G423E
NY_BONE186544068186545648186545337186545337Missense_MutationCGp.E412Q
GP2D_LARGE_INTESTINE186544068186545648186545426186545426Missense_MutationCTp.R382Q
GP5D_LARGE_INTESTINE186544068186545648186545426186545426Missense_MutationCTp.R382Q
MELJUSO_SKIN186544068186545648186545473186545473Missense_MutationTAp.E366D
CW2_LARGE_INTESTINE186544068186545648186545490186545490Missense_MutationCTp.A361T
HS578T_BREAST186544068186545648186545554186545554Missense_MutationTGp.R339S
TT_OESOPHAGUS186544068186545648186545590186545590Missense_MutationGTp.N327K
SH4_SKIN186544068186545648186545595186545595Missense_MutationCGp.G326R
SNUC5_LARGE_INTESTINE186544068186545648186545636186545636Missense_MutationCTp.S312N
HLE_LIVER186547986186548173186548045186548045Missense_MutationCTp.S288N
LS411N_LARGE_INTESTINE186547986186548173186548126186548126Missense_MutationGAp.P261L
SNUC4_LARGE_INTESTINE186572938186572982186572959186572959Missense_MutationTCp.T120A
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186515040186515089186515065186515065Nonsense_MutationCAp.E1037*
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM186547986186548173186547986186547986Splice_SiteCAp.G308C

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SORBS2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SORBS2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SORBS2


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RelatedDrugs for SORBS2

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 SORBS2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SORBS2C0043094Weight Gain1CTD_human