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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 MAD1L1

check button Gene summary
Gene informationGene symbol

MAD1L1

Gene ID

8379

Gene namemitotic arrest deficient 1 like 1
SynonymsMAD1|PIG9|TP53I9|TXBP181
Cytomap

7p22.3

Type of geneprotein-coding
Descriptionmitotic spindle assembly checkpoint protein MAD1MAD1 mitotic arrest deficient like 1MAD1-like protein 1mitotic arrest deficient 1-like protein 1mitotic checkpoint MAD1 protein homologmitotic-arrest deficient 1, yeast, homolog-like 1tax-binding prote
Modification date20180523
UniProtAcc

Q9Y6D9

ContextPubMed: MAD1L1 [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
MAD1L1

GO:0090235

regulation of metaphase plate congression

20133940


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Exon skipping events across known transcript of Ensembl for MAD1L1 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 MAD1L1

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 MAD1L1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_47319671855717:1855864:1937835:1938026:1976322:19765331937835:1938026ENSG00000002822.11ENST00000399654.2,ENST00000265854.7,ENST00000406869.1,ENST00000450235.1,ENST00000402746.1
exon_skip_47319971937835:1938026:1976322:1976533:1997263:19973541976322:1976533ENSG00000002822.11ENST00000399654.2,ENST00000265854.7,ENST00000406869.1,ENST00000450235.1,ENST00000402746.1
exon_skip_47320471976322:1976533:1997263:1997354:2020087:20201761997263:1997354ENSG00000002822.11ENST00000399654.2,ENST00000265854.7,ENST00000406869.1,ENST00000450235.1,ENST00000402746.1
exon_skip_47321071997263:1997354:2020087:2020176:2041699:20417562020087:2020176ENSG00000002822.11ENST00000399654.2,ENST00000265854.7,ENST00000406869.1,ENST00000438959.1,ENST00000402746.1
exon_skip_47321472020120:2020176:2041699:2041756:2054136:20542772041699:2041756ENSG00000002822.11ENST00000399654.2,ENST00000265854.7,ENST00000406869.1,ENST00000438959.1,ENST00000444373.2,ENST00000402746.1
exon_skip_47321772041699:2041756:2054136:2054277:2108828:21089732054136:2054277ENSG00000002822.11ENST00000399654.2,ENST00000265854.7,ENST00000406869.1,ENST00000438959.1,ENST00000444373.2,ENST00000402746.1
exon_skip_47321872054140:2054277:2108828:2108973:2188786:21888732108828:2108973ENSG00000002822.11ENST00000399654.2,ENST00000265854.7,ENST00000406869.1,ENST00000402746.1
exon_skip_47322072108828:2108973:2188786:2188873:2252846:22528692188786:2188873ENSG00000002822.11ENST00000399654.2,ENST00000265854.7,ENST00000406869.1,ENST00000402746.1
exon_skip_47322472239899:2240192:2241485:2241733:2252846:22528692241485:2241733ENSG00000002822.11ENST00000486340.1
exon_skip_47322572258987:2259091:2260518:2260657:2262209:22623892260518:2260657ENSG00000002822.11ENST00000402746.1
exon_skip_47322772262209:2262389:2265044:2265185:2269618:22696992265044:2265185ENSG00000002822.11ENST00000399654.2,ENST00000265854.7,ENST00000406869.1,ENST00000429779.1
exon_skip_47323372262209:2262389:2269618:2269778:2270183:22702962269618:2269778ENSG00000002822.11ENST00000455998.1
exon_skip_47324072265044:2265185:2269618:2269778:2272506:22725802269618:2269778ENSG00000002822.11ENST00000265854.7,ENST00000429779.1
exon_skip_47324872269618:2269778:2270183:2270359:2272506:22725802270183:2270359ENSG00000002822.11ENST00000406869.1
exon_skip_47325072269618:2269778:2270183:2270399:2272506:22725802270183:2270399ENSG00000002822.11ENST00000399654.2

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

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Exon skipping events with PSIs in GTEx for MAD1L1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_47319671855717:1855864:1937835:1938026:1976322:19765331937835:1938026ENSG00000002822.11ENST00000402746.1,ENST00000399654.2,ENST00000406869.1,ENST00000265854.7,ENST00000450235.1
exon_skip_47319971937835:1938026:1976322:1976533:1997263:19973541976322:1976533ENSG00000002822.11ENST00000402746.1,ENST00000399654.2,ENST00000406869.1,ENST00000265854.7,ENST00000450235.1
exon_skip_47320471976322:1976533:1997263:1997354:2020087:20201761997263:1997354ENSG00000002822.11ENST00000402746.1,ENST00000399654.2,ENST00000406869.1,ENST00000265854.7,ENST00000450235.1
exon_skip_47321071997263:1997354:2020087:2020176:2041699:20417562020087:2020176ENSG00000002822.11ENST00000402746.1,ENST00000399654.2,ENST00000406869.1,ENST00000265854.7,ENST00000438959.1
exon_skip_47321472020120:2020176:2041699:2041756:2054136:20542772041699:2041756ENSG00000002822.11ENST00000402746.1,ENST00000399654.2,ENST00000406869.1,ENST00000265854.7,ENST00000438959.1,ENST00000444373.2
exon_skip_47321772041699:2041756:2054136:2054277:2108828:21089732054136:2054277ENSG00000002822.11ENST00000402746.1,ENST00000399654.2,ENST00000406869.1,ENST00000265854.7,ENST00000438959.1,ENST00000444373.2
exon_skip_47322072108828:2108973:2188786:2188873:2252846:22528692188786:2188873ENSG00000002822.11ENST00000402746.1,ENST00000399654.2,ENST00000406869.1,ENST00000265854.7
exon_skip_47322472239899:2240192:2241485:2241733:2252846:22528692241485:2241733ENSG00000002822.11ENST00000486340.1
exon_skip_47322572258987:2259091:2260518:2260657:2262209:22623892260518:2260657ENSG00000002822.11ENST00000402746.1
exon_skip_47322772262209:2262389:2265044:2265185:2269618:22696992265044:2265185ENSG00000002822.11ENST00000399654.2,ENST00000406869.1,ENST00000265854.7,ENST00000429779.1
exon_skip_47323372262209:2262389:2269618:2269778:2270183:22702962269618:2269778ENSG00000002822.11ENST00000455998.1
exon_skip_47324072265044:2265185:2269618:2269778:2272506:22725802269618:2269778ENSG00000002822.11ENST00000265854.7,ENST00000429779.1
exon_skip_47324872269618:2269778:2270183:2270359:2272506:22725802270183:2270359ENSG00000002822.11ENST00000406869.1
exon_skip_47325072269618:2269778:2270183:2270399:2272506:22725802270183:2270399ENSG00000002822.11ENST00000399654.2

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 MAD1L1

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
ENST00000265854226961822697783UTR-3CDS
ENST00000399654227018322703993UTR-3UTR
ENST00000406869227018322703593UTR-3UTR
ENST0000026585419378351938026Frame-shift
ENST0000039965419378351938026Frame-shift
ENST0000040686919378351938026Frame-shift
ENST0000026585419763221976533Frame-shift
ENST0000039965419763221976533Frame-shift
ENST0000040686919763221976533Frame-shift
ENST0000026585419972631997354Frame-shift
ENST0000039965419972631997354Frame-shift
ENST0000040686919972631997354Frame-shift
ENST0000026585420200872020176Frame-shift
ENST0000039965420200872020176Frame-shift
ENST0000040686920200872020176Frame-shift
ENST0000026585421088282108973Frame-shift
ENST0000039965421088282108973Frame-shift
ENST0000040686921088282108973Frame-shift
ENST0000026585420416992041756In-frame
ENST0000039965420416992041756In-frame
ENST0000040686920416992041756In-frame
ENST0000026585420541362054277In-frame
ENST0000039965420541362054277In-frame
ENST0000040686920541362054277In-frame
ENST0000026585421887862188873In-frame
ENST0000039965421887862188873In-frame
ENST0000040686921887862188873In-frame
ENST0000026585422650442265185In-frame
ENST0000039965422650442265185In-frame
ENST0000040686922650442265185In-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
ENST00000265854226961822697783UTR-3CDS
ENST00000399654227018322703993UTR-3UTR
ENST00000406869227018322703593UTR-3UTR
ENST0000026585419378351938026Frame-shift
ENST0000039965419378351938026Frame-shift
ENST0000040686919378351938026Frame-shift
ENST0000026585419763221976533Frame-shift
ENST0000039965419763221976533Frame-shift
ENST0000040686919763221976533Frame-shift
ENST0000026585419972631997354Frame-shift
ENST0000039965419972631997354Frame-shift
ENST0000040686919972631997354Frame-shift
ENST0000026585420200872020176Frame-shift
ENST0000039965420200872020176Frame-shift
ENST0000040686920200872020176Frame-shift
ENST0000026585420416992041756In-frame
ENST0000039965420416992041756In-frame
ENST0000040686920416992041756In-frame
ENST0000026585420541362054277In-frame
ENST0000039965420541362054277In-frame
ENST0000040686920541362054277In-frame
ENST0000026585421887862188873In-frame
ENST0000039965421887862188873In-frame
ENST0000040686921887862188873In-frame
ENST0000026585422650442265185In-frame
ENST0000039965422650442265185In-frame
ENST0000040686922650442265185In-frame

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Infer the effects of exon skipping event on protein functional features for MAD1L1

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
ENST000002658542517718226504422651852353755097
ENST000003996542779718226504422651854806205097
ENST000004068693008718226504422651857098495097
ENST0000026585425177182188786218887310711157329357
ENST0000039965427797182188786218887313161402329357
ENST0000040686930087182188786218887315451631329357
ENST0000026585425177182054136205427713031443406453
ENST0000039965427797182054136205427715481688406453
ENST0000040686930087182054136205427717771917406453
ENST0000026585425177182041699204175614441500453472
ENST0000039965427797182041699204175616891745453472
ENST0000040686930087182041699204175619181974453472

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
ENST000002658542517718226504422651852353755097
ENST000003996542779718226504422651854806205097
ENST000004068693008718226504422651857098495097
ENST0000026585425177182188786218887310711157329357
ENST0000039965427797182188786218887313161402329357
ENST0000040686930087182188786218887315451631329357
ENST0000026585425177182054136205427713031443406453
ENST0000039965427797182054136205427715481688406453
ENST0000040686930087182054136205427717771917406453
ENST0000026585425177182041699204175614441500453472
ENST0000039965427797182041699204175616891745453472
ENST0000040686930087182041699204175619181974453472

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
Q9Y6D95097165Alternative sequenceID=VSP_056160;Note=In isoform 2. MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLI->MLPARGCVRKRTVWPRLARVLIVTLLTLELSYAPLPCQLSGVPYNTGDPVGRWARPCIWPCPWHT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D95097165Alternative sequenceID=VSP_056160;Note=In isoform 2. MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLI->MLPARGCVRKRTVWPRLARVLIVTLLTLELSYAPLPCQLSGVPYNTGDPVGRWARPCIWPCPWHT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D95097165Alternative sequenceID=VSP_056160;Note=In isoform 2. MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLI->MLPARGCVRKRTVWPRLARVLIVTLLTLELSYAPLPCQLSGVPYNTGDPVGRWARPCIWPCPWHT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D9509766157Alternative sequenceID=VSP_056161;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D9509766157Alternative sequenceID=VSP_056161;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D9509766157Alternative sequenceID=VSP_056161;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D950971718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D950971718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D950971718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D9509746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9509746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9509746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D950976161Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y6D950976161Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y6D950976161Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y6D950976161Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q9Y6D950976161Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q9Y6D950976161Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q9Y6D950975959Natural variantID=VAR_019708;Note=In a prostate cancer cell line%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11423979;Dbxref=dbSNP:rs121908982,PMID:11423979
Q9Y6D950975959Natural variantID=VAR_019708;Note=In a prostate cancer cell line%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11423979;Dbxref=dbSNP:rs121908982,PMID:11423979
Q9Y6D950975959Natural variantID=VAR_019708;Note=In a prostate cancer cell line%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11423979;Dbxref=dbSNP:rs121908982,PMID:11423979
Q9Y6D93293571718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D93293571718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D93293571718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D932935746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D932935746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D932935746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9329357301340RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9329357301340RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9329357301340RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D94064531718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D94064531718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D94064531718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D940645346632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D940645346632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D940645346632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9406453428428Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
Q9Y6D9406453428428Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
Q9Y6D9406453428428Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
Q9Y6D9406453380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9406453380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9406453380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9406453439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9406453439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9406453439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D94534721718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D94534721718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D94534721718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D945347246632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D945347246632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D945347246632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9453472380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9453472380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9453472380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9453472439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9453472439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9453472439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768


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
Q9Y6D95097165Alternative sequenceID=VSP_056160;Note=In isoform 2. MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLI->MLPARGCVRKRTVWPRLARVLIVTLLTLELSYAPLPCQLSGVPYNTGDPVGRWARPCIWPCPWHT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D95097165Alternative sequenceID=VSP_056160;Note=In isoform 2. MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLI->MLPARGCVRKRTVWPRLARVLIVTLLTLELSYAPLPCQLSGVPYNTGDPVGRWARPCIWPCPWHT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D95097165Alternative sequenceID=VSP_056160;Note=In isoform 2. MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLI->MLPARGCVRKRTVWPRLARVLIVTLLTLELSYAPLPCQLSGVPYNTGDPVGRWARPCIWPCPWHT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D9509766157Alternative sequenceID=VSP_056161;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D9509766157Alternative sequenceID=VSP_056161;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D9509766157Alternative sequenceID=VSP_056161;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6D950971718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D950971718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D950971718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D9509746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9509746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9509746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D950976161Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y6D950976161Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y6D950976161Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y6D950976161Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q9Y6D950976161Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q9Y6D950976161Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q9Y6D950975959Natural variantID=VAR_019708;Note=In a prostate cancer cell line%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11423979;Dbxref=dbSNP:rs121908982,PMID:11423979
Q9Y6D950975959Natural variantID=VAR_019708;Note=In a prostate cancer cell line%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11423979;Dbxref=dbSNP:rs121908982,PMID:11423979
Q9Y6D950975959Natural variantID=VAR_019708;Note=In a prostate cancer cell line%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11423979;Dbxref=dbSNP:rs121908982,PMID:11423979
Q9Y6D93293571718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D93293571718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D93293571718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D932935746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D932935746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D932935746632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9329357301340RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9329357301340RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9329357301340RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D94064531718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D94064531718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D94064531718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D940645346632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D940645346632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D940645346632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9406453428428Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
Q9Y6D9406453428428Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
Q9Y6D9406453428428Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
Q9Y6D9406453380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9406453380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9406453380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9406453439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9406453439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9406453439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D94534721718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D94534721718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D94534721718ChainID=PRO_0000213800;Note=Mitotic spindle assembly checkpoint protein MAD1
Q9Y6D945347246632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D945347246632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D945347246632Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6D9453472380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9453472380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9453472380532RegionNote=Necessary for interaction with NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14978040;Dbxref=PMID:14978040
Q9Y6D9453472439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9453472439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768
Q9Y6D9453472439480RegionNote=Important for interaction with IK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22351768;Dbxref=PMID:22351768


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SNVs in the skipped exons for MAD1L1

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-DD-A1EG-01exon_skip_473218
2108829210897321088462108846Frame_Shift_DelC-p.V401fs
LIHCTCGA-G3-A3CJ-01exon_skip_473218
2108829210897321089642108964Frame_Shift_DelC-p.G361fs
UCSTCGA-NG-A4VW-01exon_skip_473227
2265045226518522651262265126Frame_Shift_DelC-p.E70fs
UCSTCGA-NG-A4VW-01exon_skip_473227
2265045226518522651262265126Frame_Shift_DelC-p.K71fs
ESCATCGA-L5-A4OE-01exon_skip_473196
1937836193802619378481937848Nonsense_MutationGTp.C662X
UCSTCGA-N7-A4Y0-01exon_skip_473199
1976323197653319764221976422Nonsense_MutationGAp.R570*
UCSTCGA-N7-A4Y0-01exon_skip_473199
1976323197653319764221976422Nonsense_MutationGAp.R570X
SKCMTCGA-EE-A2MD-06exon_skip_473218
2108829210897321088552108855Nonsense_MutationGAp.Q398*
SKCMTCGA-EE-A2MD-06exon_skip_473218
2108829210897321088552108855Nonsense_MutationGAp.Q398X
BLCATCGA-BT-A20R-01exon_skip_473233
exon_skip_473240
2269619226977822697022269702Nonsense_MutationGAp.Q23*

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
TOV21G_OVARY2054137205427720541872054187Frame_Shift_DelC-p.E437fs
A172_CENTRAL_NERVOUS_SYSTEM2108829210897321088942108898Frame_Shift_DelTCCTC-p.RK384fs
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2108829210897321089642108964Frame_Shift_DelC-p.G361fs
MCAS_OVARY2265045226518522650542265054Frame_Shift_DelC-p.R94fs
SNU1_STOMACH1937836193802619378531937853Missense_MutationCTp.D661N
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1937836193802619379451937945Missense_MutationCTp.R630H
RH41_SOFT_TISSUE1937836193802619379471937947Missense_MutationGTp.F629L
RH4_SOFT_TISSUE1937836193802619379471937947Missense_MutationGTp.F629L
LS180_LARGE_INTESTINE1937836193802619379841937984Missense_MutationCTp.R617Q
SNU407_LARGE_INTESTINE1976323197653319764011976401Missense_MutationCTp.A577T
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1976323197653319764631976463Missense_MutationCTp.R556H
LNCAPCLONEFGC_PROSTATE1976323197653319764641976464Missense_MutationGAp.R556C
EGI1_BILIARY_TRACT1976323197653319765111976511Missense_MutationGAp.T540I
A2058_SKIN1997264199735419973251997325Missense_MutationCTp.R512Q
NCIH2141_LUNG2020088202017620201052020105Missense_MutationCAp.E496D
HEC59_ENDOMETRIUM2041700204175620417332041733Missense_MutationCAp.E461D
NCIH513_PLEURA2054137205427720541632054163Missense_MutationCTp.V445M
MDAMB415_BREAST2054137205427720541812054181Missense_MutationCTp.E439K
D542MG_CENTRAL_NERVOUS_SYSTEM2054137205427720542532054253Missense_MutationGCp.L415V
L542_MATCHED_NORMAL_TISSUE2054137205427720542532054253Missense_MutationGCp.L415V
KYSE450_OESOPHAGUS2108829210897321088672108867Missense_MutationCGp.A394P
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2108829210897321088872108887Missense_MutationCTp.R387H
NCIH2030_LUNG2108829210897321089382108938Missense_MutationTCp.Q370R
BDCM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2108829210897321089692108969Missense_MutationGAp.R360W
SNU899_UPPER_AERODIGESTIVE_TRACT2265045226518522650972265097Missense_MutationCTp.R80K
MFE319_ENDOMETRIUM2269619226977822696232269623Missense_MutationAGp.M49T
SNU1196_BILIARY_TRACT2269619226977822696622269662Missense_MutationGAp.S36L
OMC1_CERVIX1997264199735419972751997275Nonsense_MutationGAp.R529*
OC316_OVARY1937836193802619380261938026Splice_SiteTGp.E603A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAD1L1

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 MAD1L1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAD1L1


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RelatedDrugs for MAD1L1

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 MAD1L1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
MAD1L1C0036341Schizophrenia1PSYGENET
MAD1L1C1336708Testicular Germ Cell Tumor1CTD_human
MAD1L1C3495559Juvenile arthritis1CTD_human