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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 MIPOL1

check button Gene summary
Gene informationGene symbol

MIPOL1

Gene ID

145282

Gene namemirror-image polydactyly 1
SynonymsCCDC193
Cytomap

14q13.3-q21.1

Type of geneprotein-coding
Descriptionmirror-image polydactyly gene 1 protein
Modification date20180519
UniProtAcc

Q8TD10

ContextPubMed: MIPOL1 [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 MIPOL1 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 MIPOL1

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 MIPOL1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1060961437667292:37667309:37681434:37681561:37688757:3768889637681434:37681561ENSG00000151338.14ENST00000556451.1
exon_skip_1060981437667292:37667309:37688757:37688896:37696930:3769704337688757:37688896ENSG00000151338.14ENST00000396294.2
exon_skip_1061051437667292:37667309:37696930:37697043:37716307:3771644537696930:37697043ENSG00000151338.14ENST00000327441.7
exon_skip_1061091437667214:37667309:37716307:37716445:37717033:3771711237716307:37716445ENSG00000151338.14ENST00000539062.2,ENST00000555870.1
exon_skip_1061101437667214:37667309:37717033:37717112:37736142:3773637437717033:37717112ENSG00000151338.14ENST00000554930.1
exon_skip_1061181437681434:37681561:37688757:37688896:37716307:3771644537688757:37688896ENSG00000151338.14ENST00000556451.1
exon_skip_1061221437688757:37688896:37696930:37697043:37716307:3771644537696930:37697043ENSG00000151338.14ENST00000396294.2
exon_skip_1061281437717033:37717112:37734411:37734486:37736142:3773637437734411:37734486ENSG00000151338.14ENST00000539062.2,ENST00000555870.1
exon_skip_1061291437736271:37736374:37737862:37737998:37739624:3773973037737862:37737998ENSG00000151338.14ENST00000539062.2,ENST00000556451.1,ENST00000327441.7,ENST00000539174.2,ENST00000396294.2,ENST00000545536.1,ENST00000554930.1,ENST00000555870.1,ENST00000537471.1
exon_skip_1061311437739624:37739730:37754522:37754652:37777260:3777729437754522:37754652ENSG00000151338.14ENST00000539062.2,ENST00000556451.1,ENST00000327441.7,ENST00000396294.2,ENST00000545536.1,ENST00000554930.1,ENST00000537471.1
exon_skip_1061391437777662:37777724:37838721:37838829:37892059:3789215437838721:37838829ENSG00000151338.14ENST00000539062.2,ENST00000556451.1,ENST00000327441.7,ENST00000536774.1,ENST00000396294.2,ENST00000545536.1,ENST00000537471.1
exon_skip_1061401437777662:37777724:37866180:37866219:37892059:3789215437866180:37866219ENSG00000151338.14ENST00000553349.1
exon_skip_1061421437838721:37838829:37892059:37892154:37969112:3796934337892059:37892154ENSG00000151338.14ENST00000539062.2,ENST00000556451.1,ENST00000327441.7,ENST00000536774.1,ENST00000396294.2,ENST00000545536.1,ENST00000537471.1
exon_skip_1061451437892059:37892154:37969112:37969343:38016109:3801633737969112:37969343ENSG00000151338.14ENST00000539062.2,ENST00000327441.7,ENST00000536774.1,ENST00000396294.2,ENST00000537471.1

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

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Exon skipping events with PSIs in GTEx for MIPOL1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1060961437667292:37667309:37681434:37681561:37688757:3768889637681434:37681561ENSG00000151338.14ENST00000556451.1
exon_skip_1060981437667292:37667309:37688757:37688896:37696930:3769704337688757:37688896ENSG00000151338.14ENST00000396294.2
exon_skip_1061051437667292:37667309:37696930:37697043:37716307:3771644537696930:37697043ENSG00000151338.14ENST00000327441.7
exon_skip_1061091437667214:37667309:37716307:37716445:37717033:3771711237716307:37716445ENSG00000151338.14ENST00000539062.2,ENST00000555870.1
exon_skip_1061101437667214:37667309:37717033:37717112:37736142:3773637437717033:37717112ENSG00000151338.14ENST00000554930.1
exon_skip_1061181437681434:37681561:37688757:37688896:37716307:3771644537688757:37688896ENSG00000151338.14ENST00000556451.1
exon_skip_1061221437688757:37688896:37696930:37697043:37716307:3771644537696930:37697043ENSG00000151338.14ENST00000396294.2
exon_skip_1061281437717033:37717112:37734411:37734486:37736142:3773637437734411:37734486ENSG00000151338.14ENST00000539062.2,ENST00000555870.1
exon_skip_1061291437736271:37736374:37737862:37737998:37739624:3773973037737862:37737998ENSG00000151338.14ENST00000327441.7,ENST00000554930.1,ENST00000539062.2,ENST00000556451.1,ENST00000555870.1,ENST00000396294.2,ENST00000537471.1,ENST00000545536.1,ENST00000539174.2
exon_skip_1061311437739624:37739730:37754522:37754652:37777260:3777729437754522:37754652ENSG00000151338.14ENST00000327441.7,ENST00000554930.1,ENST00000539062.2,ENST00000556451.1,ENST00000396294.2,ENST00000537471.1,ENST00000545536.1
exon_skip_1061391437777662:37777724:37838721:37838829:37892059:3789215437838721:37838829ENSG00000151338.14ENST00000327441.7,ENST00000536774.1,ENST00000539062.2,ENST00000556451.1,ENST00000396294.2,ENST00000537471.1,ENST00000545536.1
exon_skip_1061401437777662:37777724:37866180:37866219:37892059:3789215437866180:37866219ENSG00000151338.14ENST00000553349.1
exon_skip_1061421437838721:37838829:37892059:37892154:37969112:3796934337892059:37892154ENSG00000151338.14ENST00000327441.7,ENST00000536774.1,ENST00000539062.2,ENST00000556451.1,ENST00000396294.2,ENST00000537471.1,ENST00000545536.1
exon_skip_1061451437892059:37892154:37969112:37969343:38016109:3801633737969112:37969343ENSG00000151338.14ENST00000327441.7,ENST00000536774.1,ENST00000539062.2,ENST00000396294.2,ENST00000537471.1
exon_skip_1061461437969112:37969343:37992677:37992774:38014869:3801525837992677:37992774ENSG00000151338.14ENST00000556451.1,ENST00000545536.1

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 MIPOL1

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
ENST0000039629437688757376888965UTR-5UTR
ENST0000032744137696930376970435UTR-5UTR
ENST0000039629437696930376970435UTR-5UTR
ENST000003274413773786237737998Frame-shift
ENST000003962943773786237737998Frame-shift
ENST000005374713773786237737998Frame-shift
ENST000003274413775452237754652Frame-shift
ENST000003962943775452237754652Frame-shift
ENST000005374713775452237754652Frame-shift
ENST000003274413789205937892154Frame-shift
ENST000003962943789205937892154Frame-shift
ENST000005374713789205937892154Frame-shift
ENST000003274413783872137838829In-frame
ENST000003962943783872137838829In-frame
ENST000005374713783872137838829In-frame
ENST000003274413796911237969343In-frame
ENST000003962943796911237969343In-frame
ENST000005374713796911237969343In-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
ENST0000039629437688757376888965UTR-5UTR
ENST0000032744137696930376970435UTR-5UTR
ENST0000039629437696930376970435UTR-5UTR
ENST000003274413773786237737998Frame-shift
ENST000003962943773786237737998Frame-shift
ENST000005374713773786237737998Frame-shift
ENST000003274413775452237754652Frame-shift
ENST000003962943775452237754652Frame-shift
ENST000005374713775452237754652Frame-shift
ENST000003274413789205937892154Frame-shift
ENST000003962943789205937892154Frame-shift
ENST000005374713789205937892154Frame-shift
ENST000003274413783872137838829In-frame
ENST000003962943783872137838829In-frame
ENST000005374713783872137838829In-frame
ENST000003274413796911237969343In-frame
ENST000003962943796911237969343In-frame
ENST000005374713796911237969343In-frame

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Infer the effects of exon skipping event on protein functional features for MIPOL1

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
ENST000003274417202442378387213783882912951402276312
ENST000003962941974442378387213783882912961403276312
ENST000005374712200442378387213783882911671274276312
ENST000003274417202442379691123796934314981728344420
ENST000003962941974442379691123796934314991729344420
ENST000005374712200442379691123796934313701600344420

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
ENST000003274417202442378387213783882912951402276312
ENST000003962941974442378387213783882912961403276312
ENST000005374712200442378387213783882911671274276312
ENST000003274417202442379691123796934314981728344420
ENST000003962941974442379691123796934314991729344420
ENST000005374712200442379691123796934313701600344420

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
Q8TD10276312170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD10276312170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD10276312170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD102763121442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD102763121442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD102763121442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD10276312253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10276312253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10276312253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10344420170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD10344420170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD10344420170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD103444201442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD103444201442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD103444201442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD10344420253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10344420253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10344420253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255


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
Q8TD10276312170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD10276312170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD10276312170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD102763121442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD102763121442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD102763121442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD10276312253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10276312253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10276312253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10344420170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD10344420170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD10344420170442Alternative sequenceID=VSP_009462;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8TD103444201442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD103444201442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD103444201442ChainID=PRO_0000096490;Note=Mirror-image polydactyly gene 1 protein
Q8TD10344420253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10344420253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8TD10344420253435Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for MIPOL1

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
STADTCGA-BR-4362-01exon_skip_106131
37754523377546523775464737754647Frame_Shift_DelA-p.L206fs
LIHCTCGA-DD-A1EG-01exon_skip_106142
37892060378921543789211137892111Frame_Shift_DelA-p.K331fs
LIHCTCGA-G3-A3CJ-01exon_skip_106142
37892060378921543789211137892111Frame_Shift_DelA-p.K331fs
LUSCTCGA-33-6737-01exon_skip_106110
37717034377171123771710737717107Nonsense_MutationCGp.S5*
HNSCTCGA-CR-7371-01exon_skip_106131
37754523377546523775456437754564Nonsense_MutationGTp.E179*
STADTCGA-CG-4306-01exon_skip_106139
37838722378388293783873737838737Nonsense_MutationCTp.Q282*
STADTCGA-CG-4306-01exon_skip_106139
37838722378388293783873737838737Nonsense_MutationCTp.Q282X
BLCATCGA-CF-A47X-01exon_skip_106139
37838722378388293783880337838803Nonsense_MutationGTp.E304*
THYMTCGA-X7-A8M4-01exon_skip_106145
37969113379693433796928537969285Nonsense_MutationGTp.E402X
SKCMTCGA-FR-A726-01exon_skip_106145
37969113379693433796929737969297Nonsense_MutationCTp.Q406*
SKCMTCGA-FW-A3R5-06exon_skip_106145
37969113379693433796933937969339Nonsense_MutationCTp.Q420*
LUADTCGA-64-1679-01exon_skip_106131
37754523377546523775452237754522Splice_SiteGTp.A165_splice

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
SISO_CERVIX37737863377379983773793737737941Frame_Shift_DelAAGAG-p.KE109fs
CW2_LARGE_INTESTINE37969113379693433796919137969191Frame_Shift_DelA-p.L370fs
HEC151_ENDOMETRIUM37737863377379983773796137737962Frame_Shift_Ins-Ap.LK117fs
HEC251_ENDOMETRIUM37737863377379983773794137737941Missense_MutationGTp.E110D
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37737863377379983773794937737949Missense_MutationTAp.I113K
HEC251_ENDOMETRIUM37737863377379983773799437737994Missense_MutationAGp.K128R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37754523377546523775454737754547Missense_MutationCTp.A173V
NB14_AUTONOMIC_GANGLIA37754523377546523775455037754550Missense_MutationACp.Q174P
NCIH2004RT_SOFT_TISSUE37754523377546523775455337754553Missense_MutationAGp.K175R
SW1271_LUNG37969113379693433796912237969122Missense_MutationATp.K347N
HCC2998_LARGE_INTESTINE37969113379693433796912437969124Missense_MutationCAp.S348Y
SW403_LARGE_INTESTINE37969113379693433796921737969217Missense_MutationTAp.I379N
KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37969113379693433796924937969249Missense_MutationCGp.Q390E
CCK81_LARGE_INTESTINE37969113379693433796927437969274Missense_MutationGAp.R398Q
MEWO_SKIN37969113379693433796928437969284Missense_MutationGAp.M401I
SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37969113379693433796930137969301Missense_MutationAGp.H407R
OAW42_OVARY37969113379693433796930337969303Missense_MutationGTp.A408S
HCC2998_LARGE_INTESTINE37737863377379983773796637737966Nonsense_MutationGTp.E119*
SW1353_BONE37838722378388293783873737838737Nonsense_MutationCTp.Q282*
JHH7_LIVER37838722378388293783877437838774Nonsense_MutationCGp.S294*
NCIH358_LUNG37737863377379983773786437737864Splice_SiteGCp.V85L
SNUC4_LARGE_INTESTINE37754523377546523775465137754651Splice_SiteGAp.V208M
BICR18_UPPER_AERODIGESTIVE_TRACT37754523377546523775465137754651Splice_SiteGAp.V208M
NCIH526_LUNG37838722378388293783882837838828Splice_SiteACp.K312T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MIPOL1

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 MIPOL1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MIPOL1


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RelatedDrugs for MIPOL1

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 MIPOL1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
MIPOL1C0152427Polydactyly1CTD_human