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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 SND1

check button Gene summary
Gene informationGene symbol

SND1

Gene ID

27044

Gene namestaphylococcal nuclease and tudor domain containing 1
SynonymsTDRD11|Tudor-SN|p100
Cytomap

7q32.1

Type of geneprotein-coding
Descriptionstaphylococcal nuclease domain-containing protein 1EBNA2 coactivator p100testis tissue sperm-binding protein Li 82Ptudor domain-containing protein 11
Modification date20180523
UniProtAcc

Q7KZF4

ContextPubMed: SND1 [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 SND1 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 SND1

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 SND1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4709397127326666:127326816:127334881:127335002:127338928:127338991127334881:127335002ENSG00000197157.6ENST00000461056.1,ENST00000468621.1,ENST00000354725.3
exon_skip_4709407127334881:127335002:127338928:127339007:127341216:127341267127338928:127339007ENSG00000197157.6ENST00000483503.1,ENST00000468621.1,ENST00000354725.3,ENST00000492772.1
exon_skip_4709417127347610:127347701:127361340:127361454:127447537:127447627127361340:127361454ENSG00000197157.6ENST00000354725.3
exon_skip_4709447127361340:127361454:127447537:127447627:127484376:127484477127447537:127447627ENSG00000197157.6ENST00000468166.1,ENST00000465900.1,ENST00000354725.3
exon_skip_4709477127447537:127447627:127484376:127484477:127527954:127528002127484376:127484477ENSG00000197157.6ENST00000468166.1,ENST00000465900.1,ENST00000354725.3
exon_skip_4709507127484376:127484477:127527954:127528065:127544799:127544872127527954:127528065ENSG00000197157.6ENST00000465900.1,ENST00000354725.3
exon_skip_4709517127527964:127528065:127544799:127544872:127569240:127569280127544799:127544872ENSG00000197157.6ENST00000465900.1,ENST00000486037.1,ENST00000354725.3
exon_skip_4709537127544799:127544872:127568112:127568239:127569240:127569280127568112:127568239ENSG00000197157.6ENST00000492840.1
exon_skip_4709557127544799:127544872:127569240:127569382:127630999:127631008127569240:127569382ENSG00000197157.6ENST00000486037.1,ENST00000354725.3
exon_skip_4709567127544799:127544872:127569240:127569382:127714553:127714674127569240:127569382ENSG00000197157.6ENST00000484767.1
exon_skip_4709597127569240:127569382:127630999:127631109:127714553:127714674127630999:127631109ENSG00000197157.6ENST00000354725.3
exon_skip_4709627127630999:127631109:127648086:127648197:127714553:127714674127648086:127648197ENSG00000197157.6ENST00000470723.1
exon_skip_4709637127630999:127631109:127714553:127714742:127721411:127721447127714553:127714742ENSG00000197157.6ENST00000354725.3
exon_skip_4709647127714553:127714742:127721411:127721553:127724775:127724811127721411:127721553ENSG00000197157.6ENST00000470463.1,ENST00000354725.3
exon_skip_4709667127721411:127721553:127724775:127724899:127725762:127725832127724775:127724899ENSG00000197157.6ENST00000354725.3
exon_skip_4709707127724775:127724899:127725762:127725832:127726989:127727103127725762:127725832ENSG00000197157.6ENST00000354725.3
exon_skip_4709717127725762:127725832:127726989:127727103:127729540:127729744127726989:127727103ENSG00000197157.6ENST00000354725.3
exon_skip_4709747127726989:127727103:127729540:127729744:127731888:127731933127729540:127729744ENSG00000197157.6ENST00000489417.1,ENST00000354725.3

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

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Exon skipping events with PSIs in GTEx for SND1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4709397127326666:127326816:127334881:127335002:127338928:127338991127334881:127335002ENSG00000197157.6ENST00000354725.3,ENST00000461056.1,ENST00000468621.1
exon_skip_4709407127334881:127335002:127338928:127339007:127341216:127341267127338928:127339007ENSG00000197157.6ENST00000354725.3,ENST00000468621.1,ENST00000483503.1,ENST00000492772.1
exon_skip_4709417127347610:127347701:127361340:127361454:127447537:127447627127361340:127361454ENSG00000197157.6ENST00000354725.3
exon_skip_4709447127361340:127361454:127447537:127447627:127484376:127484477127447537:127447627ENSG00000197157.6ENST00000354725.3,ENST00000468166.1,ENST00000465900.1
exon_skip_4709477127447537:127447627:127484376:127484477:127527954:127528002127484376:127484477ENSG00000197157.6ENST00000354725.3,ENST00000468166.1,ENST00000465900.1
exon_skip_4709507127484376:127484477:127527954:127528065:127544799:127544872127527954:127528065ENSG00000197157.6ENST00000354725.3,ENST00000465900.1
exon_skip_4709517127527964:127528065:127544799:127544872:127569240:127569280127544799:127544872ENSG00000197157.6ENST00000354725.3,ENST00000465900.1,ENST00000486037.1
exon_skip_4709537127544799:127544872:127568112:127568239:127569240:127569280127568112:127568239ENSG00000197157.6ENST00000492840.1
exon_skip_4709557127544799:127544872:127569240:127569382:127630999:127631008127569240:127569382ENSG00000197157.6ENST00000354725.3,ENST00000486037.1
exon_skip_4709597127569240:127569382:127630999:127631109:127714553:127714674127630999:127631109ENSG00000197157.6ENST00000354725.3
exon_skip_4709627127630999:127631109:127648086:127648197:127714553:127714674127648086:127648197ENSG00000197157.6ENST00000470723.1
exon_skip_4709637127630999:127631109:127714553:127714742:127721411:127721447127714553:127714742ENSG00000197157.6ENST00000354725.3
exon_skip_4709647127714553:127714742:127721411:127721553:127724775:127724811127721411:127721553ENSG00000197157.6ENST00000354725.3,ENST00000470463.1
exon_skip_4709667127721411:127721553:127724775:127724899:127725762:127725832127724775:127724899ENSG00000197157.6ENST00000354725.3
exon_skip_4709707127724775:127724899:127725762:127725832:127726989:127727103127725762:127725832ENSG00000197157.6ENST00000354725.3
exon_skip_4709717127725762:127725832:127726989:127727103:127729540:127729744127726989:127727103ENSG00000197157.6ENST00000354725.3
exon_skip_4709747127726989:127727103:127729540:127729744:127731888:127731933127729540:127729744ENSG00000197157.6ENST00000354725.3,ENST00000489417.1

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 SND1

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
ENST00000354725127334881127335002Frame-shift
ENST00000354725127338928127339007Frame-shift
ENST00000354725127484376127484477Frame-shift
ENST00000354725127544799127544872Frame-shift
ENST00000354725127569240127569382Frame-shift
ENST00000354725127630999127631109Frame-shift
ENST00000354725127721411127721553Frame-shift
ENST00000354725127724775127724899Frame-shift
ENST00000354725127725762127725832Frame-shift
ENST00000354725127361340127361454In-frame
ENST00000354725127447537127447627In-frame
ENST00000354725127527954127528065In-frame
ENST00000354725127714553127714742In-frame
ENST00000354725127726989127727103In-frame
ENST00000354725127729540127729744In-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
ENST00000354725127334881127335002Frame-shift
ENST00000354725127338928127339007Frame-shift
ENST00000354725127484376127484477Frame-shift
ENST00000354725127544799127544872Frame-shift
ENST00000354725127569240127569382Frame-shift
ENST00000354725127630999127631109Frame-shift
ENST00000354725127721411127721553Frame-shift
ENST00000354725127724775127724899Frame-shift
ENST00000354725127725762127725832Frame-shift
ENST00000354725127361340127361454In-frame
ENST00000354725127447537127447627In-frame
ENST00000354725127527954127528065In-frame
ENST00000354725127714553127714742In-frame
ENST00000354725127726989127727103In-frame
ENST00000354725127729540127729744In-frame

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Infer the effects of exon skipping event on protein functional features for SND1

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
ENST00000354725349391012736134012736145412331346346384
ENST00000354725349391012744753712744762713471436384414
ENST00000354725349391012752795412752806515381648448484
ENST00000354725349391012771455312771474219742162593656
ENST00000354725349391012772698912772710324992612768806
ENST00000354725349391012772954012772974426132816806874

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
ENST00000354725349391012736134012736145412331346346384
ENST00000354725349391012744753712744762713471436384414
ENST00000354725349391012752795412752806515381648448484
ENST00000354725349391012771455312771474219742162593656
ENST00000354725349391012772698912772710324992612768806
ENST00000354725349391012772954012772974426132816806874

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
Q7KZF4346384341351Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4346384355359Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4346384365370Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF43463842910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4346384341496DomainNote=TNase-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00272
Q7KZF4346384384386HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4346384352354TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4384414414425Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF43844142910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4384414341496DomainNote=TNase-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00272
Q7KZF4384414384386HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4384414392395HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4384414399410HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4384414388392MotifNote=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7KZF4384414387389TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4448484459462Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF44484842910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4448484341496DomainNote=TNase-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00272
Q7KZF4448484450456HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4448484476488HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656593601Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656607613Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656627630Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF45936562910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4593656525660DomainNote=TNase-like 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00272
Q7KZF4593656618624HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656632634HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656640653HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656656658HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656641641Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q7KZF4593656645645Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q7KZF4768806769772Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HQX
Q7KZF4768806777779Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4768806794798Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF47688062910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4768806729787DomainNote=Tudor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00211
Q7KZF4768806774776HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HQX
Q7KZF4768806782784HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HQX
Q7KZF4768806779779Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q7KZF4768806781781Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569
Q7KZF4768806785785Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q7KZF4768806786788TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HQX
Q7KZF4806874824832Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874835837Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874839844Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874860863Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF48068742910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4806874807821HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874851857HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874869871HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874872887HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874845847TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O


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
Q7KZF4346384341351Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4346384355359Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4346384365370Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF43463842910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4346384341496DomainNote=TNase-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00272
Q7KZF4346384384386HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4346384352354TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4384414414425Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF43844142910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4384414341496DomainNote=TNase-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00272
Q7KZF4384414384386HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4384414392395HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4384414399410HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4384414388392MotifNote=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7KZF4384414387389TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4448484459462Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF44484842910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4448484341496DomainNote=TNase-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00272
Q7KZF4448484450456HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4448484476488HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656593601Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656607613Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656627630Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF45936562910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4593656525660DomainNote=TNase-like 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00272
Q7KZF4593656618624HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656632634HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656640653HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656656658HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BDL
Q7KZF4593656641641Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q7KZF4593656645645Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q7KZF4768806769772Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HQX
Q7KZF4768806777779Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4768806794798Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF47688062910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4768806729787DomainNote=Tudor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00211
Q7KZF4768806774776HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HQX
Q7KZF4768806782784HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HQX
Q7KZF4768806779779Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q7KZF4768806781781Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569
Q7KZF4768806785785Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q7KZF4768806786788TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HQX
Q7KZF4806874824832Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874835837Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874839844Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874860863Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF48068742910ChainID=PRO_0000183180;Note=Staphylococcal nuclease domain-containing protein 1
Q7KZF4806874807821HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874851857HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874869871HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874872887HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O
Q7KZF4806874845847TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M9O


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SNVs in the skipped exons for SND1

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.
SND1_SKCM_exon_skip_470963_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-DD-A3A0-01exon_skip_470939
127334882127335002127334963127334963Frame_Shift_DelC-p.P104fs
LIHCTCGA-G3-A3CJ-01exon_skip_470939
127334882127335002127334968127334968Frame_Shift_DelG-p.Q105fs
LIHCTCGA-DD-A1EG-01127544800127544872127544870127544870Frame_Shift_DelG-p.G509fs
COADTCGA-AA-3492-01exon_skip_470955
exon_skip_470956
127569241127569382127569248127569248Frame_Shift_DelA-p.Q512fs
LIHCTCGA-DD-A39Y-01127631000127631109127631078127631078Frame_Shift_DelT-p.L583fs
LUADTCGA-64-1676-01exon_skip_470963
127714554127714742127714606127714606Frame_Shift_DelT-p.L611fs
ESCATCGA-LN-A8I1-01exon_skip_470966
127724776127724899127724828127724828Frame_Shift_DelC-p.P723fs
STADTCGA-BR-8363-01exon_skip_470966
127724776127724899127724828127724828Frame_Shift_DelC-p.H721fs
STADTCGA-BR-8591-01exon_skip_470966
127724776127724899127724828127724828Frame_Shift_DelC-p.H721fs
STADTCGA-CG-5721-01exon_skip_470966
127724776127724899127724828127724828Frame_Shift_DelC-p.H721fs
STADTCGA-BR-4370-01exon_skip_470966
127724776127724899127724851127724851Frame_Shift_DelC-p.A729fs
LIHCTCGA-DD-A39Y-01exon_skip_470971
127726990127727103127727095127727095Frame_Shift_DelC-p.P804fs
LIHCTCGA-DD-A39Y-01exon_skip_470974
127729541127729744127729612127729612Frame_Shift_DelG-p.V830fs
LUADTCGA-NJ-A4YQ-01exon_skip_470974
127729541127729744127729633127729633Frame_Shift_DelC-p.C837fs
LIHCTCGA-G3-A3CJ-01exon_skip_470974
127729541127729744127729675127729675Frame_Shift_DelG-p.V851fs
GBMTCGA-06-5412-01exon_skip_470939
127334882127335002127334947127334948Frame_Shift_Ins-Ap.T98fs
STADTCGA-HU-A4GX-01exon_skip_470944
127447538127447627127447605127447606Frame_Shift_Ins-Ap.R407fs
STADTCGA-HU-A4GX-01exon_skip_470944
127447538127447627127447606127447607Frame_Shift_Ins-Ap.R407fs
LUADTCGA-95-7043-01exon_skip_470940
127338929127339007127338952127338952Nonsense_MutationGTp.E125*
STADTCGA-HU-A4GX-01exon_skip_470941
127361341127361454127361422127361422Nonsense_MutationCTp.R374*
THYMTCGA-XM-A8RF-01exon_skip_470944
127447538127447627127447586127447586Nonsense_MutationGTp.E401X
BLCATCGA-GU-A762-01exon_skip_470955
exon_skip_470956
127569241127569382127569277127569277Nonsense_MutationCTp.Q522*
UCECTCGA-D1-A17Q-01127631000127631109127631005127631005Nonsense_MutationGTp.E559*
UCECTCGA-BG-A0M7-01127631000127631109127631104127631104Nonsense_MutationCTp.R592*
SKCMTCGA-D3-A8GL-06exon_skip_470963
127714554127714742127714604127714604Nonsense_MutationGAp.W610*
UCSTCGA-ND-A4WC-01exon_skip_470964
127721412127721553127721475127721475Nonsense_MutationCTp.R678*
UCSTCGA-ND-A4WC-01exon_skip_470964
127721412127721553127721475127721475Nonsense_MutationCTp.R678X
BLCATCGA-DK-A3X1-01127544800127544872127544799127544799Splice_SiteGAp.R485_splice
STADTCGA-CG-5734-01exon_skip_470970
127725763127725832127725833127725833Splice_SiteGA.
STADTCGA-CG-5734-01exon_skip_470970
127725763127725832127725833127725833Splice_SiteGAp.N768_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SND1_127630999_127631109_127714553_127714742_127721411_127721447_TCGA-D3-A8GL-06Sample: TCGA-D3-A8GL-06
Cancer type: SKCM
ESID: exon_skip_470963
Skipped exon start: 127714554
Skipped exon end: 127714742
Mutation start: 127714604
Mutation end: 127714604
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.W610*
exon_skip_470963_SKCM_TCGA-D3-A8GL-06.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HCT116_LARGE_INTESTINE127724776127724899127724828127724828Frame_Shift_DelC-p.H721fs
C33A_CERVIX127729541127729744127729633127729633Frame_Shift_DelC-p.C837fs
HEC251_ENDOMETRIUM127334882127335002127334916127334916Missense_MutationACp.K88T
UACC62_SKIN127334882127335002127334951127334951Missense_MutationGAp.E100K
NCIH2869_PLEURA127334882127335002127334964127334964Missense_MutationCTp.P104L
HKA1_SKIN127334882127335002127334973127334973Missense_MutationGAp.R107Q
SNU349_KIDNEY127334882127335002127334990127334990Missense_MutationTCp.Y113H
JHUEM2_ENDOMETRIUM127447538127447627127447556127447556Missense_MutationCTp.R391C
SNU175_LARGE_INTESTINE127447538127447627127447556127447556Missense_MutationCTp.R391C
NCC021_KIDNEY127447538127447627127447613127447613Missense_MutationCTp.L410F
SN12C_KIDNEY127484377127484477127484403127484403Missense_MutationACp.R423S
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE127484377127484477127484416127484416Missense_MutationGTp.A428S
GP2D_LARGE_INTESTINE127484377127484477127484422127484422Missense_MutationGAp.E430K
GP5D_LARGE_INTESTINE127484377127484477127484422127484422Missense_MutationGAp.E430K
SKCO1_LARGE_INTESTINE127484377127484477127484424127484424Missense_MutationGTp.E430D
HEC108_ENDOMETRIUM127527955127528065127527996127527996Missense_MutationTCp.V462A
HEC6_ENDOMETRIUM127569241127569382127569280127569280Missense_MutationCTp.R523W
CL34_LARGE_INTESTINE127569241127569382127569328127569328Missense_MutationCTp.R539C
HEC1_ENDOMETRIUM127569241127569382127569367127569367Missense_MutationAGp.T552A
SKUT1_SOFT_TISSUE127631000127631109127631024127631024Missense_MutationGAp.R565Q
CCLFPEDS0008T_SOFT_TISSUE127714554127714742127714651127714651Missense_MutationCTp.A626V
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE127714554127714742127714723127714723Missense_MutationCTp.A650V
BICR18_UPPER_AERODIGESTIVE_TRACT127721412127721553127721434127721434Missense_MutationAGp.Q664R
HEC265_ENDOMETRIUM127721412127721553127721447127721447Missense_MutationGTp.E668D
SNU1040_LARGE_INTESTINE127721412127721553127721488127721488Missense_MutationAGp.Y682C
HUG1N_STOMACH127721412127721553127721496127721496Missense_MutationGAp.V685M
HEC1A_ENDOMETRIUM127721412127721553127721535127721535Missense_MutationGAp.V698M
HEC1_ENDOMETRIUM127721412127721553127721535127721535Missense_MutationGAp.V698M
HEC1B_ENDOMETRIUM127721412127721553127721535127721535Missense_MutationGAp.V698M
GP2D_LARGE_INTESTINE127724776127724899127724808127724808Missense_MutationCTp.R715C
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE127725763127725832127725768127725768Missense_MutationGAp.R747H
VMRCLCD_LUNG127726990127727103127727017127727017Missense_MutationGTp.G778C
NCIH2342_LUNG127729541127729744127729544127729544Missense_MutationGTp.D808Y
SW48_LARGE_INTESTINE127729541127729744127729578127729578Missense_MutationGAp.R819Q
NCIH2347_LUNG127726990127727103127727103127727104Splice_SiteTG-p.D808fs
NUGC4_STOMACH127729541127729744127729541127729541Splice_SiteGTp.D807Y

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SND1

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 SND1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SND1


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RelatedDrugs for SND1

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 SND1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SND1C0004352Autistic Disorder1CTD_human
SND1C0024121Lung Neoplasms1CTD_human