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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 SOS1

check button Gene summary
Gene informationGene symbol

SOS1

Gene ID

6654

Gene nameSOS Ras/Rac guanine nucleotide exchange factor 1
SynonymsGF1|GGF1|GINGF|HGF|NS4|SOS-1
Cytomap

2p22.1

Type of geneprotein-coding
Descriptionson of sevenless homolog 1gingival fibromatosis, hereditary, 1guanine nucleotide exchange factor
Modification date20180522
UniProtAcc

Q07889

ContextPubMed: SOS1 [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 SOS1 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 SOS1

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 SOS1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_338486239213186:39213456:39214613:39214732:39222263:3922252839214613:39214732ENSG00000115904.8ENST00000395038.2
exon_skip_338488239214613:39214732:39216410:39216455:39222263:3922247239216410:39216455ENSG00000115904.8ENST00000426016.1,ENST00000402219.2
exon_skip_338491239214613:39214732:39222263:39222528:39224062:3922417939222263:39222528ENSG00000115904.8ENST00000395038.2
exon_skip_338493239216410:39216455:39222263:39222528:39224062:3922417939222263:39222528ENSG00000115904.8ENST00000426016.1,ENST00000402219.2
exon_skip_338494239233552:39233670:39234171:39234334:39237724:3923784439234171:39234334ENSG00000115904.8ENST00000395038.2,ENST00000426016.1,ENST00000402219.2
exon_skip_338496239234171:39234334:39237724:39237844:39239266:3923948939237724:39237844ENSG00000115904.8ENST00000395038.2,ENST00000426016.1,ENST00000402219.2
exon_skip_338497239237724:39237844:39239266:39239489:39240600:3924070439239266:39239489ENSG00000115904.8ENST00000395038.2,ENST00000426016.1,ENST00000402219.2
exon_skip_338498239241007:39241130:39241905:39241987:39249710:3925036639241905:39241987ENSG00000115904.8ENST00000395038.2,ENST00000426016.1,ENST00000402219.2
exon_skip_338500239250286:39250366:39251150:39251278:39262352:3926245139251150:39251278ENSG00000115904.8ENST00000395038.2,ENST00000426016.1,ENST00000402219.2
exon_skip_338502239251261:39251278:39261912:39261999:39262352:3926244439261912:39261999ENSG00000115904.8ENST00000428721.2
exon_skip_338505239262352:39262451:39262530:39262641:39278284:3927842839262530:39262641ENSG00000115904.8ENST00000428721.2,ENST00000461545.1,ENST00000395038.2,ENST00000426016.1,ENST00000402219.2
exon_skip_338506239262530:39262641:39278284:39278428:39281754:3928196439278284:39278428ENSG00000115904.8ENST00000428721.2,ENST00000395038.2,ENST00000426016.1,ENST00000402219.2
exon_skip_338508239283873:39284007:39285813:39285945:39294768:3929489439285813:39285945ENSG00000115904.8ENST00000428721.2,ENST00000395038.2,ENST00000451331.1,ENST00000426016.1,ENST00000402219.2
exon_skip_338510239285813:39285945:39294768:39294894:39347476:3934759139294768:39294894ENSG00000115904.8ENST00000395038.2,ENST00000426016.1,ENST00000402219.2

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

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Exon skipping events with PSIs in GTEx for SOS1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_338486239213186:39213456:39214613:39214732:39222263:3922252839214613:39214732ENSG00000115904.8ENST00000395038.2
exon_skip_338488239214613:39214732:39216410:39216455:39222263:3922247239216410:39216455ENSG00000115904.8ENST00000426016.1,ENST00000402219.2
exon_skip_338491239214613:39214732:39222263:39222528:39224062:3922417939222263:39222528ENSG00000115904.8ENST00000395038.2
exon_skip_338493239216410:39216455:39222263:39222528:39224062:3922417939222263:39222528ENSG00000115904.8ENST00000426016.1,ENST00000402219.2
exon_skip_338494239233552:39233670:39234171:39234334:39237724:3923784439234171:39234334ENSG00000115904.8ENST00000426016.1,ENST00000402219.2,ENST00000395038.2
exon_skip_338496239234171:39234334:39237724:39237844:39239266:3923948939237724:39237844ENSG00000115904.8ENST00000426016.1,ENST00000402219.2,ENST00000395038.2
exon_skip_338497239237724:39237844:39239266:39239489:39240600:3924070439239266:39239489ENSG00000115904.8ENST00000426016.1,ENST00000402219.2,ENST00000395038.2
exon_skip_338498239241007:39241130:39241905:39241987:39249710:3925036639241905:39241987ENSG00000115904.8ENST00000426016.1,ENST00000402219.2,ENST00000395038.2
exon_skip_338500239250286:39250366:39251150:39251278:39262352:3926245139251150:39251278ENSG00000115904.8ENST00000426016.1,ENST00000402219.2,ENST00000395038.2
exon_skip_338502239251261:39251278:39261912:39261999:39262352:3926244439261912:39261999ENSG00000115904.8ENST00000428721.2
exon_skip_338505239262352:39262451:39262530:39262641:39278284:3927842839262530:39262641ENSG00000115904.8ENST00000426016.1,ENST00000402219.2,ENST00000395038.2,ENST00000428721.2,ENST00000461545.1
exon_skip_338506239262530:39262641:39278284:39278428:39281754:3928196439278284:39278428ENSG00000115904.8ENST00000426016.1,ENST00000402219.2,ENST00000395038.2,ENST00000428721.2
exon_skip_338508239283873:39284007:39285813:39285945:39294768:3929489439285813:39285945ENSG00000115904.8ENST00000426016.1,ENST00000402219.2,ENST00000395038.2,ENST00000428721.2,ENST00000451331.1
exon_skip_338510239285813:39285945:39294768:39294894:39347476:3934759139294768:39294894ENSG00000115904.8ENST00000426016.1,ENST00000402219.2,ENST00000395038.2

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 SOS1

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
ENST000004022193922226339222528Frame-shift
ENST000004260163922226339222528Frame-shift
ENST000004022193923417139234334Frame-shift
ENST000004260163923417139234334Frame-shift
ENST000004022193923926639239489Frame-shift
ENST000004260163923926639239489Frame-shift
ENST000004022193924190539241987Frame-shift
ENST000004260163924190539241987Frame-shift
ENST000004022193925115039251278Frame-shift
ENST000004260163925115039251278Frame-shift
ENST000004022193921641039216455In-frame
ENST000004260163921641039216455In-frame
ENST000004022193923772439237844In-frame
ENST000004260163923772439237844In-frame
ENST000004022193926253039262641In-frame
ENST000004260163926253039262641In-frame
ENST000004022193927828439278428In-frame
ENST000004260163927828439278428In-frame
ENST000004022193928581339285945In-frame
ENST000004260163928581339285945In-frame
ENST000004022193929476839294894In-frame
ENST000004260163929476839294894In-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
ENST000004022193922226339222528Frame-shift
ENST000004260163922226339222528Frame-shift
ENST000004022193923417139234334Frame-shift
ENST000004260163923417139234334Frame-shift
ENST000004022193923926639239489Frame-shift
ENST000004260163923926639239489Frame-shift
ENST000004022193924190539241987Frame-shift
ENST000004260163924190539241987Frame-shift
ENST000004022193925115039251278Frame-shift
ENST000004260163925115039251278Frame-shift
ENST000004022193921641039216455In-frame
ENST000004260163921641039216455In-frame
ENST000004022193923772439237844In-frame
ENST000004260163923772439237844In-frame
ENST000004022193926253039262641In-frame
ENST000004260163926253039262641In-frame
ENST000004022193927828439278428In-frame
ENST000004260163927828439278428In-frame
ENST000004022193928581339285945In-frame
ENST000004260163928581339285945In-frame
ENST000004022193929476839294894In-frame
ENST000004260163929476839294894In-frame

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Infer the effects of exon skipping event on protein functional features for SOS1

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
ENST000004022198331133339294768392948941292542971
ENST000004260168534133339294768392948941753002971
ENST0000040221983311333392858133928594525538671115
ENST0000042601685341333392858133928594530143271115
ENST00000402219833113333927828439278428762905240288
ENST00000426016853413333927828439278428808951240288
ENST000004022198331133339262530392626419061016288325
ENST000004260168534133339262530392626419521062288325
ENST0000040221983311333392377243923784424322551797836
ENST0000042601685341333392377243923784424782597797836
ENST000004022198331133339216410392164553388343211151130
ENST000004260168534133339216410392164553434347811151130

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
ENST000004022198331133339294768392948941292542971
ENST000004260168534133339294768392948941753002971
ENST0000040221983311333392858133928594525538671115
ENST0000042601685341333392858133928594530143271115
ENST00000402219833113333927828439278428762905240288
ENST00000426016853413333927828439278428808951240288
ENST000004022198331133339262530392626419061016288325
ENST000004260168534133339262530392626419521062288325
ENST0000040221983311333392377243923784424322551797836
ENST0000042601685341333392377243923784424782597797836
ENST000004022198331133339216410392164553388343211151130
ENST000004260168534133339216410392164553434347811151130

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
Q078892971157Alternative sequenceID=VSP_056463;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q078892971157Alternative sequenceID=VSP_056463;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0788929713639Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q9C
Q0788929713639Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q9C
Q07889297111333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q07889297111333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q0788929712434HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929712434HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929714261HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929714261HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929716777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929716777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929713737Natural variantID=VAR_066031;Note=In a patient with Noonan syndrome. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs150565592,PMID:21387466
Q0788929713737Natural variantID=VAR_066031;Note=In a patient with Noonan syndrome. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs150565592,PMID:21387466
Q0788971115100102Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788971115100102Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q078897111511333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q078897111511333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q07889711156777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q07889711156777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q07889711158294HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q07889711158294HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788971115107118HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788971115107118HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788971115102102Natural variantID=VAR_066032;Note=In NS4. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953625;Dbxref=PMID:19953625
Q0788971115102102Natural variantID=VAR_066032;Note=In NS4. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953625;Dbxref=PMID:19953625
Q0788971115108108Natural variantID=VAR_030423;Note=In NS4. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143282,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs397517164,PMID:17143282,PMID:21387466
Q0788971115108108Natural variantID=VAR_030423;Note=In NS4. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143282,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs397517164,PMID:17143282,PMID:21387466
Q0788971115112112Natural variantID=VAR_066033;Note=In NS4. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs397517166,PMID:21387466
Q0788971115112112Natural variantID=VAR_066033;Note=In NS4. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs397517166,PMID:21387466
Q07889240288274276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288274276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q0788924028811333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q0788924028811333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q07889240288200390DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q07889240288200390DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q07889240288239246HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288239246HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288249268HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288249268HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288280288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288280288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288282282MutagenesisNote=Increases MAPK3 phosphorylation in response to EGF stimulation. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17339331;Dbxref=PMID:17339331
Q07889240288282282MutagenesisNote=Increases MAPK3 phosphorylation in response to EGF stimulation. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17339331;Dbxref=PMID:17339331
Q07889240288252252Natural variantID=VAR_066035;Note=In NS4. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs142094234,PMID:21387466
Q07889240288252252Natural variantID=VAR_066035;Note=In NS4. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs142094234,PMID:21387466
Q07889240288266266Natural variantID=VAR_030424;Note=In NS4. T->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143285,ECO:0000269|PubMed:19953625,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852812,PMID:17143285,PMID:19953625,PMID:21387466
Q07889240288266266Natural variantID=VAR_030424;Note=In NS4. T->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143285,ECO:0000269|PubMed:19953625,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852812,PMID:17143285,PMID:19953625,PMID:21387466
Q07889240288269269Natural variantID=VAR_030425;Note=In NS4. M->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143282,ECO:0000269|PubMed:17143285,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852813,PMID:17143282,PMID:17143285,PMID:21387466
Q07889240288269269Natural variantID=VAR_030425;Note=In NS4. M->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143282,ECO:0000269|PubMed:17143285,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852813,PMID:17143282,PMID:17143285,PMID:21387466
Q07889240288269269Natural variantID=VAR_064504;Note=In NS4. M->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19953625,ECO:0000269|PubMed:20683980,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852813,PMID:19953625,PMID:20683980,PMID:21387466
Q07889240288269269Natural variantID=VAR_064504;Note=In NS4. M->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19953625,ECO:0000269|PubMed:20683980,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852813,PMID:19953625,PMID:20683980,PMID:21387466
Q0788928832511333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q0788928832511333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q07889288325200390DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q07889288325200390DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q07889288325280288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325280288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325293302HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325293302HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325307316HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325307316HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325320327HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325320327HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325309309Natural variantID=VAR_030426;Note=In NS4. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17143285;Dbxref=dbSNP:rs397517180,PMID:17143285
Q07889288325309309Natural variantID=VAR_030426;Note=In NS4. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17143285;Dbxref=dbSNP:rs397517180,PMID:17143285
Q07889288325289292TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325289292TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q078897978363721333Alternative sequenceID=VSP_056465;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q078897978363721333Alternative sequenceID=VSP_056465;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0788979783611333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q0788979783611333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q078897978367801019DomainNote=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00168
Q078897978367801019DomainNote=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00168
Q07889797836781797HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836781797HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836801803HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836801803HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836805807HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836805807HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836808810HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NYJ
Q07889797836808810HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NYJ
Q07889797836814817HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836814817HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836819840HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836819840HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889111511303721333Alternative sequenceID=VSP_056465;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q07889111511303721333Alternative sequenceID=VSP_056465;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q078891115113011333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q078891115113011333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1


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
Q078892971157Alternative sequenceID=VSP_056463;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q078892971157Alternative sequenceID=VSP_056463;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0788929713639Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q9C
Q0788929713639Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q9C
Q07889297111333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q07889297111333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q0788929712434HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929712434HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929714261HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929714261HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929716777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929716777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788929713737Natural variantID=VAR_066031;Note=In a patient with Noonan syndrome. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs150565592,PMID:21387466
Q0788929713737Natural variantID=VAR_066031;Note=In a patient with Noonan syndrome. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs150565592,PMID:21387466
Q0788971115100102Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788971115100102Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q078897111511333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q078897111511333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q07889711156777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q07889711156777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q07889711158294HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q07889711158294HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788971115107118HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788971115107118HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KSY
Q0788971115102102Natural variantID=VAR_066032;Note=In NS4. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953625;Dbxref=PMID:19953625
Q0788971115102102Natural variantID=VAR_066032;Note=In NS4. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953625;Dbxref=PMID:19953625
Q0788971115108108Natural variantID=VAR_030423;Note=In NS4. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143282,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs397517164,PMID:17143282,PMID:21387466
Q0788971115108108Natural variantID=VAR_030423;Note=In NS4. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143282,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs397517164,PMID:17143282,PMID:21387466
Q0788971115112112Natural variantID=VAR_066033;Note=In NS4. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs397517166,PMID:21387466
Q0788971115112112Natural variantID=VAR_066033;Note=In NS4. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs397517166,PMID:21387466
Q07889240288274276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288274276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q0788924028811333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q0788924028811333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q07889240288200390DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q07889240288200390DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q07889240288239246HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288239246HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288249268HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288249268HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288280288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288280288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889240288282282MutagenesisNote=Increases MAPK3 phosphorylation in response to EGF stimulation. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17339331;Dbxref=PMID:17339331
Q07889240288282282MutagenesisNote=Increases MAPK3 phosphorylation in response to EGF stimulation. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17339331;Dbxref=PMID:17339331
Q07889240288252252Natural variantID=VAR_066035;Note=In NS4. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs142094234,PMID:21387466
Q07889240288252252Natural variantID=VAR_066035;Note=In NS4. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs142094234,PMID:21387466
Q07889240288266266Natural variantID=VAR_030424;Note=In NS4. T->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143285,ECO:0000269|PubMed:19953625,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852812,PMID:17143285,PMID:19953625,PMID:21387466
Q07889240288266266Natural variantID=VAR_030424;Note=In NS4. T->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143285,ECO:0000269|PubMed:19953625,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852812,PMID:17143285,PMID:19953625,PMID:21387466
Q07889240288269269Natural variantID=VAR_030425;Note=In NS4. M->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143282,ECO:0000269|PubMed:17143285,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852813,PMID:17143282,PMID:17143285,PMID:21387466
Q07889240288269269Natural variantID=VAR_030425;Note=In NS4. M->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17143282,ECO:0000269|PubMed:17143285,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852813,PMID:17143282,PMID:17143285,PMID:21387466
Q07889240288269269Natural variantID=VAR_064504;Note=In NS4. M->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19953625,ECO:0000269|PubMed:20683980,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852813,PMID:19953625,PMID:20683980,PMID:21387466
Q07889240288269269Natural variantID=VAR_064504;Note=In NS4. M->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19953625,ECO:0000269|PubMed:20683980,ECO:0000269|PubMed:21387466;Dbxref=dbSNP:rs137852813,PMID:19953625,PMID:20683980,PMID:21387466
Q0788928832511333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q0788928832511333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q07889288325200390DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q07889288325200390DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q07889288325280288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325280288HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325293302HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325293302HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325307316HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325307316HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325320327HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325320327HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325309309Natural variantID=VAR_030426;Note=In NS4. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17143285;Dbxref=dbSNP:rs397517180,PMID:17143285
Q07889288325309309Natural variantID=VAR_030426;Note=In NS4. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17143285;Dbxref=dbSNP:rs397517180,PMID:17143285
Q07889288325289292TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q07889288325289292TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DBH
Q078897978363721333Alternative sequenceID=VSP_056465;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q078897978363721333Alternative sequenceID=VSP_056465;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0788979783611333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q0788979783611333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q078897978367801019DomainNote=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00168
Q078897978367801019DomainNote=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00168
Q07889797836781797HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836781797HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836801803HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836801803HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836805807HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836805807HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836808810HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NYJ
Q07889797836808810HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NYJ
Q07889797836814817HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836814817HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836819840HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889797836819840HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WFO
Q07889111511303721333Alternative sequenceID=VSP_056465;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q07889111511303721333Alternative sequenceID=VSP_056465;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q078891115113011333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1
Q078891115113011333ChainID=PRO_0000068894;Note=Son of sevenless homolog 1


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SNVs in the skipped exons for SOS1

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LUSCTCGA-39-5031-01exon_skip_338491
exon_skip_338493
39222264392225283922238939222390Frame_Shift_DelTC-p.E1074fs
BLCATCGA-CF-A47X-01exon_skip_338491
exon_skip_338493
39222264392225283922239939222399Frame_Shift_DelT-p.S1071fs
KIRCTCGA-DV-A4W0-01exon_skip_338491
exon_skip_338493
39222264392225283922244539222445Frame_Shift_DelA-p.L1056fs
HNSCTCGA-CN-5369-01exon_skip_338491
exon_skip_338493
39222264392225283922252039222520Frame_Shift_DelT-p.K1030fs
SARCTCGA-DX-A48N-01exon_skip_338491
exon_skip_338493
39222264392225283922252039222520Frame_Shift_DelT-p.K1030fs
STADTCGA-B7-A5TI-01exon_skip_338491
exon_skip_338493
39222264392225283922252039222520Frame_Shift_DelT-p.K1030fs
STADTCGA-BR-7703-01exon_skip_338491
exon_skip_338493
39222264392225283922252039222520Frame_Shift_DelT-p.Y1031fs
LIHCTCGA-DD-A39Y-01exon_skip_338497
39239267392394893923931539239315Frame_Shift_DelG-p.P781fs
LIHCTCGA-DD-A1EG-01exon_skip_338498
39241906392419873924194339241943Frame_Shift_DelA-p.C635fs
LIHCTCGA-DD-A39Y-01exon_skip_338498
39241906392419873924194339241943Frame_Shift_DelA-p.C635fs
LIHCTCGA-G3-A3CJ-01exon_skip_338498
39241906392419873924194339241943Frame_Shift_DelA-p.C635fs
LIHCTCGA-DD-A3A0-01exon_skip_338500
39251151392512783925117339251173Frame_Shift_DelT-p.S394fs
LIHCTCGA-DD-A1EG-01exon_skip_338500
39251151392512783925118539251185Frame_Shift_DelT-p.I390fs
LIHCTCGA-DD-A39Y-01exon_skip_338500
39251151392512783925118539251185Frame_Shift_DelT-p.I390fs
LIHCTCGA-DD-A39Y-01exon_skip_338500
39251151392512783925126339251263Frame_Shift_DelT-p.S364fs
LIHCTCGA-DD-A39Y-01exon_skip_338505
39262531392626413926258539262585Frame_Shift_DelA-p.F307fs
LIHCTCGA-DD-A39Y-01exon_skip_338505
39262531392626413926258539262585Frame_Shift_DelA-p.H308fs
LIHCTCGA-DD-A1EG-01exon_skip_338508
39285814392859453928583139285831Frame_Shift_DelT-p.I110fs
LIHCTCGA-G3-A3CJ-01exon_skip_338508
39285814392859453928583139285831Frame_Shift_DelT-p.I110fs
LIHCTCGA-DD-A3A0-01exon_skip_338510
39294769392948943929478939294789Frame_Shift_DelG-p.R65fs
LIHCTCGA-DD-A3A0-01exon_skip_338510
39294769392948943929481539294815Frame_Shift_DelA-p.L56fs
LIHCTCGA-BC-A112-01exon_skip_338508
39285814392859453928592939285930Frame_Shift_Ins-Tp.F77fs
PRADTCGA-XK-AAIW-01exon_skip_338496
39237725392378443923775939237759Nonsense_MutationGAp.R826*
READTCGA-F5-6814-01exon_skip_338496
39237725392378443923775939237759Nonsense_MutationGAp.R826X
UCECTCGA-B5-A0JY-01exon_skip_338500
39251151392512783925126939251269Nonsense_MutationCAp.E362*
PRADTCGA-ZG-A9L2-01exon_skip_338505
39262531392626413926259639262596Nonsense_MutationGAp.R304*
KIRPTCGA-BQ-5884-01exon_skip_338508
39285814392859453928590439285904Nonsense_MutationCTp.W85*
KIRPTCGA-BQ-5884-01exon_skip_338508
39285814392859453928590439285904Nonsense_MutationCTp.W85X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SW48_LARGE_INTESTINE39222264392225283922252039222520Frame_Shift_DelT-p.K1030fs
HSC4_UPPER_AERODIGESTIVE_TRACT39234172392343343923425539234255Frame_Shift_DelC-p.E864fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39239267392394893923947339239473Frame_Shift_DelT-p.K728fs
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39239267392394893923943239239433Frame_Shift_Ins-Tp.I742fs
639V_URINARY_TRACT39214614392147323921466039214660Missense_MutationGAp.P1155L
GP2D_LARGE_INTESTINE39216411392164553921644739216447Missense_MutationTCp.T1119A
GP5D_LARGE_INTESTINE39216411392164553921644739216447Missense_MutationTCp.T1119A
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39222264392225283922228439222284Missense_MutationTCp.H1109R
SNU182_LIVER39222264392225283922248839222488Missense_MutationCTp.R1041H
A431_SKIN39234172392343343923417439234174Missense_MutationCGp.E891Q
DU145_PROSTATE39234172392343343923428439234284Missense_MutationCGp.R854P
HCC2998_LARGE_INTESTINE39234172392343343923431239234312Missense_MutationACp.L845V
SNU1079_BILIARY_TRACT39234172392343343923432439234324Missense_MutationCTp.E841K
2313287_STOMACH39237725392378443923774639237746Missense_MutationTCp.N830S
HEC1_ENDOMETRIUM39237725392378443923783539237835Missense_MutationCAp.Q800H
AGS_STOMACH39239267392394893923930939239309Missense_MutationTCp.E783G
MFE319_ENDOMETRIUM39239267392394893923944139239441Missense_MutationCTp.R739K
HCC2998_LARGE_INTESTINE39239267392394893923945039239450Missense_MutationACp.I736R
SNU81_LARGE_INTESTINE39241906392419873924197339241973Missense_MutationGAp.R625W
NCIH513_PLEURA39262531392626413926258139262581Missense_MutationCAp.D309Y
RCCMF_KIDNEY39262531392626413926260239262602Missense_MutationTCp.I302V
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39278285392784283927840639278406Missense_MutationCTp.R248H
NCIH1184_LUNG39285814392859453928585439285854Missense_MutationGCp.P102R
SNU1040_LARGE_INTESTINE39294769392948943929477339294773Missense_MutationAGp.V70A
HEC59_ENDOMETRIUM39294769392948943929479739294797Missense_MutationGAp.A62V
JMSU1_URINARY_TRACT39262531392626413926253139262531Splice_SiteCTp.Q325Q

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SOS1

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 SOS1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SOS1


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RelatedDrugs for SOS1

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 SOS1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SOS1C1853120Noonan Syndrome 46CTD_human;UNIPROT
SOS1C0028326Noonan Syndrome2CTD_human;ORPHANET
SOS1C0152013Adenocarcinoma of lung (disorder)1CTD_human