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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ANKS1B

check button Gene summary
Gene informationGene symbol

ANKS1B

Gene ID

56899

Gene nameankyrin repeat and sterile alpha motif domain containing 1B
SynonymsAIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2
Cytomap

12q23.1

Type of geneprotein-coding
Descriptionankyrin repeat and sterile alpha motif domain-containing protein 1BE2a-Pbx1-associated proteinamyloid-beta precursor protein intracellular domain associated protein 1cajalin 2
Modification date20200313
UniProtAcc

B1VKB5,

F8VR14,

F8VVQ4,

H0YI72,

H0YJZ1,

J3QSU0,

Q7Z6G8,

R4GMN5,

R4GMQ4,

R4GMS8,

R4GN07,

R4GN70,

R4GN73,

R4GN78,

R4GNJ0,

Context- 29027019(Explorative results from multistep screening for potential genetic risk loci of Alzheimer's disease in the longitudinal VITA study cohort)

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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Gene structures and expression levels for ANKS1B

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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

ENSG00000185046
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
STGUPENST00000550778.5ANKS1B-221:protein_coding:ANKS1B7.872399e+006.124971e+003.615655e-042.297378e-02
PGUPENST00000549025.6ANKS1B-213:protein_coding:ANKS1B2.629065e+028.537671e-011.257779e-031.720712e-02
PGDOWNENST00000547010.5ANKS1B-208:protein_coding:ANKS1B5.880739e+00-1.735301e+003.103432e-033.259319e-02
PGUPENST00000547362.5ANKS1B-209:nonsense_mediated_decay:ANKS1B3.222960e+011.020759e+003.240630e-033.363798e-02
CBDOWNENST00000552245.5ANKS1B-229:retained_intron:ANKS1B2.119352e+01-8.621742e-017.177562e-081.604453e-06
CBUPENST00000546631.1ANKS1B-206:lncRNA:ANKS1B7.628925e+009.760524e-016.868870e-032.553639e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ANKS1B

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_100533chr1298782126:98782137:98798934:98799005:98800997:9880112598798934:98799005
exon_skip_10065chr1299775548:99775661:99779871:99779972:99782022:9978209399779871:99779972
exon_skip_102372chr1298801093:98801125:98807844:98807915:98829174:9882925198807844:98807915
exon_skip_11644chr1299246831:99246864:99399631:99399811:99443673:9944380999399631:99399811
exon_skip_117509chr1298807844:98807918:98829174:98829251:98832029:9883213698829174:98829251
exon_skip_122902chr1298801093:98801125:98829174:98829353:98832029:9883213698829174:98829353
exon_skip_124202chr1298807844:98807915:98829174:98829353:98832029:9883213698829174:98829353
exon_skip_139792chr1298801093:98801125:98832029:98832136:99053157:9905324898832029:98832136
exon_skip_145653chr1299812155:99812311:99825309:99825389:99984104:9998423799825309:99825389
exon_skip_149785chr1298801093:98801125:98807844:98807918:98832029:9883213698807844:98807918
exon_skip_157054chr1299782022:99782097:99806404:99806700:99812155:9981231199806404:99806700
exon_skip_163272chr1299399631:99399811:99443673:99443809:99504476:9950464199443673:99443809
exon_skip_166834chr1298801093:98801125:98807844:98807918:99053157:9905330998807844:98807918
exon_skip_194839chr1298807844:98807915:98832029:98832136:99053157:9905330498832029:98832136
exon_skip_198208chr1298801093:98801125:98807844:98807918:98829174:9882925198807844:98807918
exon_skip_20495chr1299504598:99504641:99655067:99655210:99772922:9977308899655067:99655210
exon_skip_208747chr1298801093:98801125:98832029:98832136:99053157:9905330498832029:98832136
exon_skip_214127chr1298798934:98799005:98800997:98801125:98829174:9882925198800997:98801125
exon_skip_220375chr1298801093:98801125:98807844:98807915:98832029:9883213698807844:98807915
exon_skip_221708chr1298745400:98745846:98751355:98751522:98773042:9877317998751355:98751522
exon_skip_225857chr1299779871:99779972:99782022:99782097:99806404:9980670099782022:99782097
exon_skip_243098chr1298807853:98807915:98829174:98829353:98832029:9883213698829174:98829353
exon_skip_248161chr1298798934:98799005:98800997:98801125:98832029:9883213698800997:98801125
exon_skip_288411chr1299443673:99443809:99504476:99504641:99655067:9965521099504476:99504641
exon_skip_41610chr1298801093:98801125:98832029:98832136:98894630:9889486198832029:98832136
exon_skip_41621chr1298781117:98781203:98782126:98782137:98798934:9879900598782126:98782137
exon_skip_43655chr1298735560:98735634:98751355:98751522:98773042:9877317998751355:98751522
exon_skip_51584chr1298801093:98801125:98807844:98807918:99053157:9905330498807844:98807918
exon_skip_71599chr1299655067:99655210:99772922:99773088:99775548:9977564399772922:99773088
exon_skip_78007chr1299775646:99775661:99779871:99779972:99782022:9978209799779871:99779972
exon_skip_83136chr1298745739:98745849:98751355:98751522:98773042:9877317998751355:98751522
exon_skip_91749chr1298801093:98801125:98807844:98807918:99053157:9905324898807844:98807918
exon_skip_93256chr1298773042:98773179:98781117:98781223:98798934:9879900598781117:98781223
exon_skip_99660chr1299812155:99812311:99825309:99825389:99984104:9998413599825309:99825389

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_102372MSBB_PG4.773649e-016.292982e-01-1.519334e-011.934666e-07
exon_skip_198208MSBB_PG3.431034e-014.921429e-01-1.490394e-011.246725e-06
exon_skip_122902MSBB_PG5.324306e-014.265455e-011.058851e-017.377020e-05


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Open reading frame (ORF) annotation in the exon skipping event for ANKS1B

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005477769939963199399811Frame-shift
ENST000005477769944367399443809Frame-shift
ENST000005477769977292299773088Frame-shift
ENST000005477769978202299782097Frame-shift
ENST000005477769875135598751522In-frame
ENST000005477769878212698782137In-frame
ENST000005477769880099798801125In-frame
ENST000005477769882917498829353In-frame
ENST000005477769977987199779972In-frame
ENST000005477769980640499806700In-frame
ENST000005477769982530999825389In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005477769939963199399811Frame-shift
ENST000005477769950447699504641Frame-shift
ENST000005477769977292299773088Frame-shift
ENST000005477769978202299782097Frame-shift
ENST000005477769882917498829353In-frame
ENST000005477769977987199779972In-frame
ENST000005477769980640499806700In-frame
ENST000005477769982530999825389In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005477769939963199399811Frame-shift
ENST000005477769944367399443809Frame-shift
ENST000005477769950447699504641Frame-shift
ENST000005477769977292299773088Frame-shift
ENST000005477769978202299782097Frame-shift
ENST000005477769878212698782137In-frame
ENST000005477769879893498799005In-frame
ENST000005477769880099798801125In-frame
ENST000005477769882917498829353In-frame
ENST000005477769965506799655210In-frame
ENST000005477769980640499806700In-frame
ENST000005477769982530999825389In-frame

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Infer the effects of exon skipping event on protein functional features for ANKS1B

p-ENSG00000185046_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000005477763902124899825309998253891352144571
ENST00000547776390212489980640499806700373668124222
ENST00000547776390212489977987199779972746846248282
ENST00000547776390212489882917498829353288730659621021
ENST000005477763902124898800997988011253067319410221064
ENST000005477763902124898751355987515223505367111681223

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000005477763902124899825309998253891352144571
ENST00000547776390212489980640499806700373668124222
ENST00000547776390212489977987199779972746846248282
ENST00000547776390212489882917498829353288730659621021

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000005477763902124899825309998253891352144571
ENST00000547776390212489980640499806700373668124222
ENST0000054777639021248996550679965521011291271376423
ENST00000547776390212489882917498829353288730659621021
ENST000005477763902124898800997988011253067319410221064
ENST000005477763902124898798934987990053196326610651088

check button Lost protein functional features of individual exon skipping events in ROSMAP.
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
Q7Z6G845711994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G845711831Alternative sequenceID=VSP_032701;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G845711774Alternative sequenceID=VSP_032702;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 2 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:150
Q7Z6G845711420Alternative sequenceID=VSP_032703;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15004329;Dbxref=PMID:15004329
Q7Z6G845713807Alternative sequenceID=VSP_046415;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G8457111248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G845715887RepeatNote=ANK 2
Q7Z6G81242221994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G81242221831Alternative sequenceID=VSP_032701;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G81242221774Alternative sequenceID=VSP_032702;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 2 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:150
Q7Z6G81242221420Alternative sequenceID=VSP_032703;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15004329;Dbxref=PMID:15004329
Q7Z6G81242223807Alternative sequenceID=VSP_046415;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G812422211248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G8124222127156RepeatNote=ANK 4
Q7Z6G8124222160189RepeatNote=ANK 5
Q7Z6G8124222193222RepeatNote=ANK 6
Q7Z6G82482821994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G82482821831Alternative sequenceID=VSP_032701;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G82482821774Alternative sequenceID=VSP_032702;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 2 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:150
Q7Z6G82482821420Alternative sequenceID=VSP_032703;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15004329;Dbxref=PMID:15004329
Q7Z6G82482823807Alternative sequenceID=VSP_046415;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G824828211248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G8248282225254RepeatNote=ANK 7
Q7Z6G896210211994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G896210219271022Alternative sequenceID=VSP_032706;Note=In isoform 8. VLKINLIGHRKRILASLGDRLHDDPPQKPPRSITLREPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->QSSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G896210219631022Alternative sequenceID=VSP_032707;Note=In isoform 2%2C isoform 6%2C isoform 7 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15004329,ECO:00
Q7Z6G896210219631022Alternative sequenceID=VSP_032708;Note=In isoform 5. EPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->SSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G8962102111248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G89621021974974Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BIZ1
Q7Z6G8962102110071007Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BIZ1
Q7Z6G8102210649271022Alternative sequenceID=VSP_032706;Note=In isoform 8. VLKINLIGHRKRILASLGDRLHDDPPQKPPRSITLREPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->QSSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G8102210649631022Alternative sequenceID=VSP_032707;Note=In isoform 2%2C isoform 6%2C isoform 7 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15004329,ECO:00
Q7Z6G8102210649631022Alternative sequenceID=VSP_032708;Note=In isoform 5. EPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->SSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G81022106410221022Alternative sequenceID=VSP_032709;Note=In isoform 3. Q->QSSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q7Z6G81022106410591074Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M38
Q7Z6G81022106411248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G81022106410561213DomainNote=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148
Q7Z6G81022106410561058TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M38
Q7Z6G81168122311248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G81168122310561213DomainNote=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148
Q7Z6G81168122311681186HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M38

check button Lost protein functional features of individual exon skipping events in MSBB.
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
Q7Z6G845711994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G845711831Alternative sequenceID=VSP_032701;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G845711774Alternative sequenceID=VSP_032702;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 2 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:150
Q7Z6G845711420Alternative sequenceID=VSP_032703;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15004329;Dbxref=PMID:15004329
Q7Z6G845713807Alternative sequenceID=VSP_046415;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G8457111248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G845715887RepeatNote=ANK 2
Q7Z6G81242221994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G81242221831Alternative sequenceID=VSP_032701;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G81242221774Alternative sequenceID=VSP_032702;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 2 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:150
Q7Z6G81242221420Alternative sequenceID=VSP_032703;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15004329;Dbxref=PMID:15004329
Q7Z6G81242223807Alternative sequenceID=VSP_046415;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G812422211248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G8124222127156RepeatNote=ANK 4
Q7Z6G8124222160189RepeatNote=ANK 5
Q7Z6G8124222193222RepeatNote=ANK 6
Q7Z6G82482821994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G82482821831Alternative sequenceID=VSP_032701;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G82482821774Alternative sequenceID=VSP_032702;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 2 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:150
Q7Z6G82482821420Alternative sequenceID=VSP_032703;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15004329;Dbxref=PMID:15004329
Q7Z6G82482823807Alternative sequenceID=VSP_046415;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G824828211248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G8248282225254RepeatNote=ANK 7
Q7Z6G896210211994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G896210219271022Alternative sequenceID=VSP_032706;Note=In isoform 8. VLKINLIGHRKRILASLGDRLHDDPPQKPPRSITLREPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->QSSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G896210219631022Alternative sequenceID=VSP_032707;Note=In isoform 2%2C isoform 6%2C isoform 7 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15004329,ECO:00
Q7Z6G896210219631022Alternative sequenceID=VSP_032708;Note=In isoform 5. EPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->SSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G8962102111248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G89621021974974Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BIZ1
Q7Z6G8962102110071007Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BIZ1

check button Lost protein functional features of individual exon skipping events in Mayo.
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
Q7Z6G845711994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G845711831Alternative sequenceID=VSP_032701;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G845711774Alternative sequenceID=VSP_032702;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 2 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:150
Q7Z6G845711420Alternative sequenceID=VSP_032703;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15004329;Dbxref=PMID:15004329
Q7Z6G845713807Alternative sequenceID=VSP_046415;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G8457111248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G845715887RepeatNote=ANK 2
Q7Z6G81242221994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G81242221831Alternative sequenceID=VSP_032701;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G81242221774Alternative sequenceID=VSP_032702;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 2 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:150
Q7Z6G81242221420Alternative sequenceID=VSP_032703;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15004329;Dbxref=PMID:15004329
Q7Z6G81242223807Alternative sequenceID=VSP_046415;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G812422211248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G8124222127156RepeatNote=ANK 4
Q7Z6G8124222160189RepeatNote=ANK 5
Q7Z6G8124222193222RepeatNote=ANK 6
Q7Z6G83764231994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G83764231831Alternative sequenceID=VSP_032701;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G83764231774Alternative sequenceID=VSP_032702;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 2 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:150
Q7Z6G83764231420Alternative sequenceID=VSP_032703;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15004329;Dbxref=PMID:15004329
Q7Z6G83764233807Alternative sequenceID=VSP_046415;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G837642311248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G896210211994Alternative sequenceID=VSP_046414;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z6G896210219271022Alternative sequenceID=VSP_032706;Note=In isoform 8. VLKINLIGHRKRILASLGDRLHDDPPQKPPRSITLREPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->QSSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G896210219631022Alternative sequenceID=VSP_032707;Note=In isoform 2%2C isoform 6%2C isoform 7 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15004329,ECO:00
Q7Z6G896210219631022Alternative sequenceID=VSP_032708;Note=In isoform 5. EPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->SSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G8962102111248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G89621021974974Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BIZ1
Q7Z6G8962102110071007Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BIZ1
Q7Z6G8102210649271022Alternative sequenceID=VSP_032706;Note=In isoform 8. VLKINLIGHRKRILASLGDRLHDDPPQKPPRSITLREPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->QSSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G8102210649631022Alternative sequenceID=VSP_032707;Note=In isoform 2%2C isoform 6%2C isoform 7 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15004329,ECO:00
Q7Z6G8102210649631022Alternative sequenceID=VSP_032708;Note=In isoform 5. EPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQ->SSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z6G81022106410221022Alternative sequenceID=VSP_032709;Note=In isoform 3. Q->QSSVCEIWTNQNAGFPFSAIHQVHN;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q7Z6G81022106410591074Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M38
Q7Z6G81022106411248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G81022106410561213DomainNote=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148
Q7Z6G81022106410561058TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M38
Q7Z6G81065108810591074Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M38
Q7Z6G81065108811248ChainID=PRO_0000327259;Note=Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Q7Z6G81065108810561213DomainNote=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148
Q7Z6G81065108810781091HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M38


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3'-UTR located exon skipping events that lost miRNA binding sites in ANKS1B

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for ANKS1B

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for ANKS1B

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end
ADstageMSBBIFGexon_skip_102372-3.872007e-014.178582e-02chr12-988010939880112598807844988079159882917498829251
CDRMSBBSTGexon_skip_23272-3.047600e-012.975578e-03chr12-997729229977308899774624997747399977554899775643

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKS1B

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for ANKS1B

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
DLPFCRC3H1exon_skip_1982084.525650e-017.417745e-17
DLPFCRC3H1exon_skip_1023724.573423e-011.388300e-17
HCCIGF2BP2exon_skip_102372-4.102183e-012.207168e-12
HCCPCBP4exon_skip_102372-6.211381e-013.342602e-30
HCCPUF60exon_skip_102372-4.204698e-015.427759e-13
HCCPTBP1exon_skip_102372-7.000254e-014.477628e-41
HCCPABPC1exon_skip_102372-4.485542e-019.039020e-15
HCCPCBP4exon_skip_198208-5.672505e-012.160789e-24
HCCSF1exon_skip_198208-4.810124e-014.853147e-17
HCCPTBP1exon_skip_198208-6.800891e-015.265951e-38
HCCPABPC1exon_skip_198208-4.188000e-016.843358e-13
HCCRBM5exon_skip_189541-4.514625e-015.786268e-15
HCCFUBP1exon_skip_189541-4.099627e-012.284353e-12
HCCENOX1exon_skip_189541-4.498673e-017.394119e-15
HCCPTBP1exon_skip_189541-5.094504e-013.084113e-19
HCCPABPC1exon_skip_189541-4.226262e-014.016251e-13
HCCPABPN1exon_skip_1229024.462123e-011.152870e-14
HCCRBM5exon_skip_1229025.857402e-012.346075e-26
HCCIGF2BP2exon_skip_1229024.147127e-011.090270e-12
HCCANKHD1exon_skip_1229025.454924e-012.065117e-22
HCCRBM45exon_skip_1229024.925602e-015.719866e-18
HCCSRSF1exon_skip_1229024.127658e-011.422459e-12
HCCRBM41exon_skip_1229024.373986e-014.319171e-14
HCCRBM3exon_skip_117509-4.493208e-012.507702e-13
HCCRBM3exon_skip_282239-4.683392e-014.930655e-15
IFGIGF2BP2exon_skip_102372-5.860742e-011.048452e-03
IFGRALYLexon_skip_1023724.729781e-011.102555e-02
IFGPTBP1exon_skip_102372-4.868994e-018.598274e-03
IFGENOX1exon_skip_220375-5.549498e-012.660835e-03
IFGPUF60exon_skip_220375-4.605310e-011.563345e-02
IFGPTBP1exon_skip_220375-5.840356e-011.381551e-03
IFGIGF2BP2exon_skip_198208-4.234846e-012.473204e-02
IFGRBM47exon_skip_198208-4.638497e-011.290899e-02
IFGRALYLexon_skip_1982084.361300e-012.033548e-02
IFGPTBP1exon_skip_198208-4.594933e-011.389799e-02
IFGPTBP3exon_skip_1982084.397538e-011.920121e-02
IFGRBM47exon_skip_149785-5.092044e-016.673437e-03
IFGRC3H1exon_skip_149785-4.118308e-013.280761e-02
IFGSF1exon_skip_149785-4.381831e-012.224723e-02
IFGPABPC1exon_skip_149785-4.138857e-013.186127e-02
IFGRALYLexon_skip_122902-4.396936e-011.921962e-02
PCCPCBP4exon_skip_102372-4.213250e-012.338113e-10
PCCPTBP1exon_skip_102372-5.913475e-015.249468e-21
PCCPCBP4exon_skip_198208-4.143114e-014.936464e-10
PCCPTBP1exon_skip_198208-5.945706e-012.845212e-21
PCCTRA2Aexon_skip_189541-4.507245e-017.482470e-12
PCCPTBP1exon_skip_189541-5.164962e-011.194787e-15
PCCPABPC1exon_skip_189541-4.697127e-017.244531e-13
PGFXR2exon_skip_1023725.324793e-012.082082e-16
PGHNRNPDexon_skip_1023724.720790e-018.959843e-13
PGRALYLexon_skip_1023726.881347e-014.237735e-30
PGPTBP1exon_skip_102372-4.972865e-013.328930e-14
PGCELF1exon_skip_1023725.156838e-012.523327e-15
PGFXR2exon_skip_1982085.504720e-012.551841e-17
PGENOX1exon_skip_1982084.145114e-019.505992e-10
PGHNRNPDexon_skip_1982084.633443e-014.317128e-12
PGRALYLexon_skip_1982086.905030e-018.286280e-30
PGPTBP1exon_skip_198208-4.138464e-011.017170e-09
PGCELF1exon_skip_1982085.460872e-015.096802e-17
PGPCBP4exon_skip_189541-4.435898e-014.246586e-11
PGPTBP1exon_skip_189541-4.466181e-013.019574e-11
STGFXR2exon_skip_1023724.005434e-018.348699e-05
STGRALYLexon_skip_1023725.893208e-017.978148e-10
STGCELF1exon_skip_1023724.049668e-016.841807e-05
STGRALYLexon_skip_1982085.121613e-012.470965e-07
STGRALYLexon_skip_122902-4.703877e-012.540824e-06
TCFXR2exon_skip_1023724.577763e-011.156778e-09
TCHNRNPDexon_skip_1023725.902423e-012.143879e-16
TCRALYLexon_skip_1023728.609397e-013.075494e-48
TCPTBP1exon_skip_102372-4.018272e-011.389765e-07
TCPTBP3exon_skip_1023725.712423e-013.073418e-15
TCCELF1exon_skip_1023725.596173e-011.443051e-14
TCFXR2exon_skip_1982084.327398e-011.098095e-08
TCHNRNPDexon_skip_1982085.350894e-013.116873e-13
TCRALYLexon_skip_1982088.284398e-011.275611e-41
TCPTBP1exon_skip_198208-4.693670e-013.831046e-10
TCPTBP3exon_skip_1982084.842786e-018.687475e-11
TCCELF1exon_skip_1982084.904097e-014.621605e-11
TCNUP42exon_skip_167854.204603e-013.430659e-08
TCRALYLexon_skip_167854.846857e-019.557224e-11

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RelatedDrugs for ANKS1B

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

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RelatedDiseases for ANKS1B

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