ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact
Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for SPAST

check button Gene summary
Gene informationGene symbol

SPAST

Gene ID

6683

Gene namespastin
SynonymsADPSP|FSP2|SPG4
Cytomap

2p22.3

Type of geneprotein-coding
Descriptionspastinspastic paraplegia 4 (autosomal dominant; spastin)spastic paraplegia 4 protein
Modification date20180523
UniProtAcc

Q9UBP0

ContextPubMed: SPAST [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
SPAST

GO:0001578

microtubule bundle formation

16219033

SPAST

GO:0034214

protein hexamerization

17389232

SPAST

GO:0051013

microtubule severing

15716377|16219033|17389232|23745751|26875866

SPAST

GO:0051260

protein homooligomerization

17389232


Top

Exon skipping events across known transcript of Ensembl for SPAST 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

Top

Gene isoform structures and expression levels for SPAST

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

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


Top

Exon skipping events with PSIs in TCGA for SPAST

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_324573232288775:32289315:32312560:32312647:32314590:3231467432312560:32312647ENSG00000021574.7ENST00000315285.3
exon_skip_324575232314590:32314674:32323864:32323960:32339706:3233989432323864:32323960ENSG00000021574.7ENST00000315285.3
exon_skip_324579232314590:32314674:32339706:32339894:32340770:3234090432339706:32339894ENSG00000021574.7ENST00000345662.1
exon_skip_324580232323864:32323960:32339706:32339894:32340770:3234090432339706:32339894ENSG00000021574.7ENST00000315285.3
exon_skip_324581232341187:32341281:32352016:32352091:32353476:3235354832352016:32352091ENSG00000021574.7ENST00000315285.3,ENST00000345662.1
exon_skip_324584232352016:32352091:32353476:32353548:32361631:3236170732353476:32353548ENSG00000021574.7ENST00000315285.3,ENST00000345662.1
exon_skip_324585232361631:32361707:32361945:32362037:32362177:3236225732361945:32362037ENSG00000021574.7ENST00000315285.3,ENST00000345662.1
exon_skip_324586232362177:32362257:32366972:32367015:32368404:3236848432366972:32367015ENSG00000021574.7ENST00000315285.3,ENST00000345662.1
exon_skip_324587232366972:32367015:32368404:32368484:32370005:3237007632368404:32368484ENSG00000021574.7ENST00000315285.3,ENST00000345662.1
exon_skip_324591232368404:32368484:32370005:32370076:32372286:3237232732370005:32370076ENSG00000021574.7ENST00000315285.3,ENST00000345662.1
exon_skip_324596232370005:32370076:32372286:32372327:32379442:3238270532372286:32372327ENSG00000021574.7ENST00000315285.3,ENST00000345662.1

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

Top

Exon skipping events with PSIs in GTEx for SPAST

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_324575232314590:32314674:32323864:32323960:32339706:3233989432323864:32323960ENSG00000021574.7ENST00000315285.3
exon_skip_324579232314590:32314674:32339706:32339894:32340770:3234090432339706:32339894ENSG00000021574.7ENST00000345662.1
exon_skip_324580232323864:32323960:32339706:32339894:32340770:3234090432339706:32339894ENSG00000021574.7ENST00000315285.3
exon_skip_324581232341187:32341281:32352016:32352091:32353476:3235354832352016:32352091ENSG00000021574.7ENST00000345662.1,ENST00000315285.3
exon_skip_324584232352016:32352091:32353476:32353548:32361631:3236170732353476:32353548ENSG00000021574.7ENST00000345662.1,ENST00000315285.3
exon_skip_324585232361631:32361707:32361945:32362037:32362177:3236225732361945:32362037ENSG00000021574.7ENST00000345662.1,ENST00000315285.3
exon_skip_324586232362177:32362257:32366972:32367015:32368404:3236848432366972:32367015ENSG00000021574.7ENST00000345662.1,ENST00000315285.3
exon_skip_324587232366972:32367015:32368404:32368484:32370005:3237007632368404:32368484ENSG00000021574.7ENST00000345662.1,ENST00000315285.3
exon_skip_324591232368404:32368484:32370005:32370076:32372286:3237232732370005:32370076ENSG00000021574.7ENST00000345662.1,ENST00000315285.3
exon_skip_324596232370005:32370076:32372286:32372327:32379442:3238270532372286:32372327ENSG00000021574.7ENST00000345662.1,ENST00000315285.3

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

* Skipped exon sequences.

Top

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

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
ENST000003152853233970632339894Frame-shift
ENST000003152853236194532362037Frame-shift
ENST000003152853236697232367015Frame-shift
ENST000003152853236840432368484Frame-shift
ENST000003152853237000532370076Frame-shift
ENST000003152853237228632372327Frame-shift
ENST000003152853231256032312647In-frame
ENST000003152853232386432323960In-frame
ENST000003152853235201632352091In-frame
ENST000003152853235347632353548In-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
ENST000003152853233970632339894Frame-shift
ENST000003152853236194532362037Frame-shift
ENST000003152853236697232367015Frame-shift
ENST000003152853236840432368484Frame-shift
ENST000003152853237000532370076Frame-shift
ENST000003152853237228632372327Frame-shift
ENST000003152853232386432323960In-frame
ENST000003152853235201632352091In-frame
ENST000003152853235347632353548In-frame

Top

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

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
ENST0000031528551346163231256032312647541627138167
ENST0000031528551346163232386432323960712807195227
ENST000003152855134616323520163235209112241298366391
ENST000003152855134616323534763235354812991370391415

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
ENST0000031528551346163232386432323960712807195227
ENST000003152855134616323520163235209112241298366391
ENST000003152855134616323534763235354812991370391415

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
Q9UBP0138167139141Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EAB
Q9UBP01381671616ChainID=PRO_0000084763;Note=Spastin
Q9UBP0138167120195DomainNote=MIT;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UBP0138167142144HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EAB
Q9UBP0138167146161HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EAB
Q9UBP013816744616Natural variantID=VAR_075827;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0138167112616Natural variantID=VAR_075829;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0138167135616Natural variantID=VAR_075830;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0138167162162Natural variantID=VAR_067563;Note=In SPG4%3B unknown pathological significance. V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20214791,ECO:0000269|PubMed:20562464;Dbxref=dbSNP:rs141944844,PMID:20214791,PMID:20562464
Q9UBP01381671300RegionNote=Required for interaction with RTN1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16602018;Dbxref=PMID:16602018
Q9UBP01381671194RegionNote=Required for midbody localization;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18997780;Dbxref=PMID:18997780
Q9UBP0138167112196RegionNote=Sufficient for interaction with CHMP1B;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18997780;Dbxref=PMID:18997780
Q9UBP0138167114200RegionNote=Required for interaction with microtubules;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15269182;Dbxref=PMID:15269182
Q9UBP013816778616Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|HAMAP-Rule:MF_03021,ECO:0000305|PubMed:20200447;Dbxref=PMID:20200447
Q9UBP0195227197228Alternative sequenceID=VSP_000024;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10470851,ECO:0000303|PubMed:15489334;Dbxref=PMID:10470851,PMID:15489334
Q9UBP01952271616ChainID=PRO_0000084763;Note=Spastin
Q9UBP0195227120195DomainNote=MIT;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UBP0195227169195HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EAB
Q9UBP019522744616Natural variantID=VAR_075827;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0195227112616Natural variantID=VAR_075829;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0195227135616Natural variantID=VAR_075830;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0195227195195Natural variantID=VAR_026758;Note=In SPG4. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16682546;Dbxref=PMID:16682546
Q9UBP0195227201201Natural variantID=VAR_067629;Note=In SPG4%3B unknown pathological significance. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20718791;Dbxref=PMID:20718791
Q9UBP01952271300RegionNote=Required for interaction with RTN1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16602018;Dbxref=PMID:16602018
Q9UBP0195227112196RegionNote=Sufficient for interaction with CHMP1B;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18997780;Dbxref=PMID:18997780
Q9UBP0195227114200RegionNote=Required for interaction with microtubules;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15269182;Dbxref=PMID:15269182
Q9UBP019522778616Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|HAMAP-Rule:MF_03021,ECO:0000305|PubMed:20200447;Dbxref=PMID:20200447
Q9UBP0366391376383Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP03663911616ChainID=PRO_0000084763;Note=Spastin
Q9UBP0366391370372HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP0366391388398HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP0366391388388MutagenesisNote=Abrogates ATPase activity and abolishes microtubule severing. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15716377;Dbxref=PMID:15716377
Q9UBP036639144616Natural variantID=VAR_075827;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0366391112616Natural variantID=VAR_075829;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0366391135616Natural variantID=VAR_075830;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0366391244616Natural variantID=VAR_075831;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25421405;Dbxref=PMID:25421405
Q9UBP0366391245616Natural variantID=VAR_075832;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0366391254616Natural variantID=VAR_075833;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0366391366366Natural variantID=VAR_079315;Note=In SPG4%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=PMID:28572275
Q9UBP0366391368368Natural variantID=VAR_075837;Note=In SPG4. F->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21546041,ECO:0000269|PubMed:28572275;Dbxref=PMID:21546041,PMID:28572275
Q9UBP0366391368368Natural variantID=VAR_079316;Note=In SPG4%3B unknown pathological significance. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=PMID:28572275
Q9UBP0366391370370Natural variantID=VAR_027208;Note=In SPG4%3B promotes microtubule binding and the formation of thick microtubule bundles. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10699187,ECO:0000269|PubMed:11809724;Dbxref=PMID:10699187,PMID:11809724
Q9UBP0366391372372Natural variantID=VAR_075838;Note=In SPG4. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0366391372372Natural variantID=VAR_079317;Note=In SPG4%3B unknown pathological significance. R->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=PMID:28572275
Q9UBP0366391377377Natural variantID=VAR_075839;Note=In SPG4. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21546041;Dbxref=PMID:21546041
Q9UBP0366391378378Natural variantID=VAR_019439;Note=In SPG4. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14732620;Dbxref=PMID:14732620
Q9UBP0366391378378Natural variantID=VAR_067637;Note=In SPG4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0366391380380Natural variantID=VAR_067638;Note=In SPG4. L->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17594340,ECO:0000269|PubMed:20932283;Dbxref=PMID:17594340,PMID:20932283
Q9UBP0366391381381Natural variantID=VAR_027209;Note=In SPG4%3B promotes microtubule binding and the formation of thick microtubule bundles. F->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10699187,ECO:0000269|PubMed:11809724;Dbxref=PMID:10699187,PMID:11809724
Q9UBP0366391382382Natural variantID=VAR_067566;Note=In SPG4%3B unknown pathological significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562464;Dbxref=PMID:20562464
Q9UBP0366391386386Natural variantID=VAR_027210;Note=In SPG4%3B abrogates ATPase activity%2C promotes microtubule binding and the formation of thick microtubule bundles. N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10699187,ECO:0000269|PubMed:11809724
Q9UBP0366391386386Natural variantID=VAR_019440;Note=In SPG4. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15210521;Dbxref=dbSNP:rs121908514,PMID:15210521
Q9UBP0366391386386Natural variantID=VAR_079318;Note=In SPG4%3B unknown pathological significance. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=PMID:28572275
Q9UBP0366391388388Natural variantID=VAR_027211;Note=In SPG4%3B abrogates ATPase activity%2C promotes microtubule binding and the formation of thick microtubule bundles and impairs traffic from the ER to Golgi. K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269
Q9UBP0366391390390Natural variantID=VAR_079319;Note=In SPG4%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=dbSNP:rs1131691977,PMID:28572275
Q9UBP0366391390390Natural variantID=VAR_019441;Note=In SPG4. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14732620;Dbxref=dbSNP:rs797044850,PMID:14732620
Q9UBP0366391391391Natural variantID=VAR_067639;Note=In SPG4. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0366391382389Nucleotide bindingNote=ATP;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|HAMAP-Rule:MF_03021,ECO:0000305|PubMed:15716377;Dbxref=PMID:15716377
Q9UBP0366391228616RegionNote=Sufficient for microtubule severing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15269182;Dbxref=PMID:15269182
Q9UBP036639178616Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|HAMAP-Rule:MF_03021,ECO:0000305|PubMed:20200447;Dbxref=PMID:20200447
Q9UBP0366391365367TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP0391415402406Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP03914151616ChainID=PRO_0000084763;Note=Spastin
Q9UBP0391415388398HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP0391415415415MutagenesisNote=Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin%2C impairs ATPase activity and abolishes microtubule severing. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17389232;Dbxref=PMID:17389232
Q9UBP039141544616Natural variantID=VAR_075827;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0391415112616Natural variantID=VAR_075829;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0391415135616Natural variantID=VAR_075830;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0391415244616Natural variantID=VAR_075831;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25421405;Dbxref=PMID:25421405
Q9UBP0391415245616Natural variantID=VAR_075832;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0391415254616Natural variantID=VAR_075833;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0391415391391Natural variantID=VAR_067639;Note=In SPG4. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0391415393396Natural variantID=VAR_067640;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0391415399399Natural variantID=VAR_027212;Note=In SPG4. S->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11843700,ECO:0000269|PubMed:22960362,ECO:0000269|PubMed:24824479,ECO:0000269|PubMed:25045380;Dbxref=PMID:11843700,PMID:22960362,PMID
Q9UBP0391415404404Natural variantID=VAR_019449;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12163196;Dbxref=PMID:12163196
Q9UBP0391415406406Natural variantID=VAR_075840;Note=In SPG4. I->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0391415406406Natural variantID=VAR_026759;Note=In SPG4. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16682546;Dbxref=dbSNP:rs587777757,PMID:16682546
Q9UBP0391415407407Natural variantID=VAR_067567;Note=In SPG4%3B unknown pathological significance. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562464;Dbxref=PMID:20562464
Q9UBP0391415407407Natural variantID=VAR_019450;Note=In SPG4. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12124993;Dbxref=PMID:12124993
Q9UBP0391415409409Natural variantID=VAR_067641;Note=In SPG4. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20932283,ECO:0000269|PubMed:22960362;Dbxref=dbSNP:rs1064793273,PMID:20932283,PMID:22960362
Q9UBP0391415410410Natural variantID=VAR_067642;Note=In SPG4. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0391415413413Natural variantID=VAR_067568;Note=In SPG4. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20550563;Dbxref=PMID:20550563
Q9UBP0391415228616RegionNote=Sufficient for microtubule severing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15269182;Dbxref=PMID:15269182
Q9UBP039141578616Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|HAMAP-Rule:MF_03021,ECO:0000305|PubMed:20200447;Dbxref=PMID:20200447


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
Q9UBP0195227197228Alternative sequenceID=VSP_000024;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10470851,ECO:0000303|PubMed:15489334;Dbxref=PMID:10470851,PMID:15489334
Q9UBP01952271616ChainID=PRO_0000084763;Note=Spastin
Q9UBP0195227120195DomainNote=MIT;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UBP0195227169195HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EAB
Q9UBP019522744616Natural variantID=VAR_075827;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0195227112616Natural variantID=VAR_075829;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0195227135616Natural variantID=VAR_075830;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0195227195195Natural variantID=VAR_026758;Note=In SPG4. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16682546;Dbxref=PMID:16682546
Q9UBP0195227201201Natural variantID=VAR_067629;Note=In SPG4%3B unknown pathological significance. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20718791;Dbxref=PMID:20718791
Q9UBP01952271300RegionNote=Required for interaction with RTN1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16602018;Dbxref=PMID:16602018
Q9UBP0195227112196RegionNote=Sufficient for interaction with CHMP1B;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18997780;Dbxref=PMID:18997780
Q9UBP0195227114200RegionNote=Required for interaction with microtubules;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15269182;Dbxref=PMID:15269182
Q9UBP019522778616Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|HAMAP-Rule:MF_03021,ECO:0000305|PubMed:20200447;Dbxref=PMID:20200447
Q9UBP0366391376383Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP03663911616ChainID=PRO_0000084763;Note=Spastin
Q9UBP0366391370372HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP0366391388398HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP0366391388388MutagenesisNote=Abrogates ATPase activity and abolishes microtubule severing. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15716377;Dbxref=PMID:15716377
Q9UBP036639144616Natural variantID=VAR_075827;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0366391112616Natural variantID=VAR_075829;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0366391135616Natural variantID=VAR_075830;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0366391244616Natural variantID=VAR_075831;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25421405;Dbxref=PMID:25421405
Q9UBP0366391245616Natural variantID=VAR_075832;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0366391254616Natural variantID=VAR_075833;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0366391366366Natural variantID=VAR_079315;Note=In SPG4%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=PMID:28572275
Q9UBP0366391368368Natural variantID=VAR_075837;Note=In SPG4. F->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21546041,ECO:0000269|PubMed:28572275;Dbxref=PMID:21546041,PMID:28572275
Q9UBP0366391368368Natural variantID=VAR_079316;Note=In SPG4%3B unknown pathological significance. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=PMID:28572275
Q9UBP0366391370370Natural variantID=VAR_027208;Note=In SPG4%3B promotes microtubule binding and the formation of thick microtubule bundles. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10699187,ECO:0000269|PubMed:11809724;Dbxref=PMID:10699187,PMID:11809724
Q9UBP0366391372372Natural variantID=VAR_075838;Note=In SPG4. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0366391372372Natural variantID=VAR_079317;Note=In SPG4%3B unknown pathological significance. R->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=PMID:28572275
Q9UBP0366391377377Natural variantID=VAR_075839;Note=In SPG4. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21546041;Dbxref=PMID:21546041
Q9UBP0366391378378Natural variantID=VAR_019439;Note=In SPG4. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14732620;Dbxref=PMID:14732620
Q9UBP0366391378378Natural variantID=VAR_067637;Note=In SPG4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0366391380380Natural variantID=VAR_067638;Note=In SPG4. L->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17594340,ECO:0000269|PubMed:20932283;Dbxref=PMID:17594340,PMID:20932283
Q9UBP0366391381381Natural variantID=VAR_027209;Note=In SPG4%3B promotes microtubule binding and the formation of thick microtubule bundles. F->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10699187,ECO:0000269|PubMed:11809724;Dbxref=PMID:10699187,PMID:11809724
Q9UBP0366391382382Natural variantID=VAR_067566;Note=In SPG4%3B unknown pathological significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562464;Dbxref=PMID:20562464
Q9UBP0366391386386Natural variantID=VAR_027210;Note=In SPG4%3B abrogates ATPase activity%2C promotes microtubule binding and the formation of thick microtubule bundles. N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10699187,ECO:0000269|PubMed:11809724
Q9UBP0366391386386Natural variantID=VAR_019440;Note=In SPG4. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15210521;Dbxref=dbSNP:rs121908514,PMID:15210521
Q9UBP0366391386386Natural variantID=VAR_079318;Note=In SPG4%3B unknown pathological significance. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=PMID:28572275
Q9UBP0366391388388Natural variantID=VAR_027211;Note=In SPG4%3B abrogates ATPase activity%2C promotes microtubule binding and the formation of thick microtubule bundles and impairs traffic from the ER to Golgi. K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269
Q9UBP0366391390390Natural variantID=VAR_079319;Note=In SPG4%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572275;Dbxref=dbSNP:rs1131691977,PMID:28572275
Q9UBP0366391390390Natural variantID=VAR_019441;Note=In SPG4. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14732620;Dbxref=dbSNP:rs797044850,PMID:14732620
Q9UBP0366391391391Natural variantID=VAR_067639;Note=In SPG4. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0366391382389Nucleotide bindingNote=ATP;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|HAMAP-Rule:MF_03021,ECO:0000305|PubMed:15716377;Dbxref=PMID:15716377
Q9UBP0366391228616RegionNote=Sufficient for microtubule severing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15269182;Dbxref=PMID:15269182
Q9UBP036639178616Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|HAMAP-Rule:MF_03021,ECO:0000305|PubMed:20200447;Dbxref=PMID:20200447
Q9UBP0366391365367TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP0391415402406Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP03914151616ChainID=PRO_0000084763;Note=Spastin
Q9UBP0391415388398HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3VFD
Q9UBP0391415415415MutagenesisNote=Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin%2C impairs ATPase activity and abolishes microtubule severing. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17389232;Dbxref=PMID:17389232
Q9UBP039141544616Natural variantID=VAR_075827;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0391415112616Natural variantID=VAR_075829;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0391415135616Natural variantID=VAR_075830;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0391415244616Natural variantID=VAR_075831;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25421405;Dbxref=PMID:25421405
Q9UBP0391415245616Natural variantID=VAR_075832;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0391415254616Natural variantID=VAR_075833;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25045380;Dbxref=PMID:25045380
Q9UBP0391415391391Natural variantID=VAR_067639;Note=In SPG4. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0391415393396Natural variantID=VAR_067640;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0391415399399Natural variantID=VAR_027212;Note=In SPG4. S->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11843700,ECO:0000269|PubMed:22960362,ECO:0000269|PubMed:24824479,ECO:0000269|PubMed:25045380;Dbxref=PMID:11843700,PMID:22960362,PMID
Q9UBP0391415404404Natural variantID=VAR_019449;Note=In SPG4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12163196;Dbxref=PMID:12163196
Q9UBP0391415406406Natural variantID=VAR_075840;Note=In SPG4. I->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22960362;Dbxref=PMID:22960362
Q9UBP0391415406406Natural variantID=VAR_026759;Note=In SPG4. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16682546;Dbxref=dbSNP:rs587777757,PMID:16682546
Q9UBP0391415407407Natural variantID=VAR_067567;Note=In SPG4%3B unknown pathological significance. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562464;Dbxref=PMID:20562464
Q9UBP0391415407407Natural variantID=VAR_019450;Note=In SPG4. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12124993;Dbxref=PMID:12124993
Q9UBP0391415409409Natural variantID=VAR_067641;Note=In SPG4. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20932283,ECO:0000269|PubMed:22960362;Dbxref=dbSNP:rs1064793273,PMID:20932283,PMID:22960362
Q9UBP0391415410410Natural variantID=VAR_067642;Note=In SPG4. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20932283;Dbxref=PMID:20932283
Q9UBP0391415413413Natural variantID=VAR_067568;Note=In SPG4. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20550563;Dbxref=PMID:20550563
Q9UBP0391415228616RegionNote=Sufficient for microtubule severing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15269182;Dbxref=PMID:15269182
Q9UBP039141578616Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|HAMAP-Rule:MF_03021,ECO:0000305|PubMed:20200447;Dbxref=PMID:20200447


Top

SNVs in the skipped exons for SPAST

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
LIHCTCGA-G3-A3CJ-01exon_skip_324579
exon_skip_324580
32339707323398943233971232339712Frame_Shift_DelG-p.G230fs
LIHCTCGA-DD-A39Y-01exon_skip_324581
32352017323520913235207132352071Frame_Shift_DelG-p.G385fs
LIHCTCGA-G3-A3CJ-01exon_skip_324581
32352017323520913235207132352071Frame_Shift_DelG-p.G385fs
LIHCTCGA-DD-A1EG-01exon_skip_324587
32368405323684843236840732368407Frame_Shift_DelA-p.T513fs
LIHCTCGA-DD-A1EG-01exon_skip_324587
32368405323684843236846032368460Frame_Shift_DelA-p.Q531fs
LIHCTCGA-DD-A3A0-01exon_skip_324587
32368405323684843236846032368460Frame_Shift_DelA-p.Q531fs
LIHCTCGA-G3-A3CJ-01exon_skip_324587
32368405323684843236846032368460Frame_Shift_DelA-p.Q531fs
BLCATCGA-SY-A9G5-01exon_skip_324579
exon_skip_324580
32339707323398943233975832339758Nonsense_MutationCAp.S245*
GBMTCGA-76-6280-01exon_skip_324586
32366973323670153236697132366971Splice_SiteATp.R498_splice
SKCMTCGA-FS-A1ZJ-06exon_skip_324587
32368405323684843236840332368403Splice_SiteAG.
SKCMTCGA-GN-A26C-01exon_skip_324596
32372287323723273237228632372286Splice_SiteGA.

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
EN_ENDOMETRIUM32339707323398943233977032339771Frame_Shift_Ins-Ap.SK249fs
HCC202_BREAST32352017323520913235205832352059Frame_Shift_Ins-Tp.F381fs
BICR18_UPPER_AERODIGESTIVE_TRACT32323865323239603232387032323870Missense_MutationACp.M198L
BICR18_UPPER_AERODIGESTIVE_TRACT32323865323239603232388632323886Missense_MutationCAp.P203Q
SNU1040_LARGE_INTESTINE32323865323239603232390932323909Missense_MutationGAp.V211I
BICR18_UPPER_AERODIGESTIVE_TRACT32323865323239603232393332323933Missense_MutationGAp.A219T
GP2D_LARGE_INTESTINE32323865323239603232393932323939Missense_MutationCTp.R221C
GP5D_LARGE_INTESTINE32323865323239603232393932323939Missense_MutationCTp.R221C
TT_THYROID32339707323398943233975032339751Missense_MutationTACTp.S243C
TT_THYROID32339707323398943233975132339751Missense_MutationATp.S243C
OCIMY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE32352017323520913235204132352041Missense_MutationGAp.A375T
NCIH1373_LUNG32353477323535483235350832353508Missense_MutationCTp.T402I
MESSA_SOFT_TISSUE32361946323620373236197632361976Missense_MutationGAp.R451K
CW2_LARGE_INTESTINE32361946323620373236200232362002Missense_MutationCTp.R460C
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE32366973323670153236697532366975Missense_MutationGAp.R499H

Top

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

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

Top

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


Top

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


Top

RelatedDrugs for SPAST

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

Top

RelatedDiseases for SPAST

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SPASTC1866855Spastic paraplegia 4, autosomal dominant32CTD_human;ORPHANET;UNIPROT