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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ANKIB1-PEX1 (FusionGDB2 ID:HG54467TG5189)

Fusion Gene Summary for ANKIB1-PEX1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKIB1-PEX1
Fusion gene ID: hg54467tg5189
HgeneTgene
Gene symbol

ANKIB1

PEX1

Gene ID

54467

5189

Gene nameankyrin repeat and IBR domain containing 1peroxisomal biogenesis factor 1
Synonyms-HMLR1|PBD1A|PBD1B|ZWS|ZWS1
Cytomap('ANKIB1')('PEX1')

7q21.2

7q21.2

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and IBR domain-containing protein 1peroxisome biogenesis factor 1Zellweger syndromeperoxin-1peroxisome biogenesis disorder protein 1
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000486698, ENST00000265742, 
Fusion gene scores* DoF score8 X 6 X 7=33612 X 8 X 8=768
# samples 912
** MAII scorelog2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/768*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKIB1 [Title/Abstract] AND PEX1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKIB1(91948826)-PEX1(92138725), # samples:3
Anticipated loss of major functional domain due to fusion event.ANKIB1-PEX1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ANKIB1-PEX1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across ANKIB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across PEX1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-CG-4438-01AANKIB1chr7

91948826

-PEX1chr7

92138725

-
ChimerDB4STADTCGA-CG-4438-01AANKIB1chr7

91948826

+PEX1chr7

92138725

-
ChimerDB4STADTCGA-CG-4438ANKIB1chr7

91948826

+PEX1chr7

92138725

-


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Fusion Gene ORF analysis for ANKIB1-PEX1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000486698ENST00000248633ANKIB1chr7

91948826

+PEX1chr7

92138725

-
3UTR-3CDSENST00000486698ENST00000428214ANKIB1chr7

91948826

+PEX1chr7

92138725

-
3UTR-3CDSENST00000486698ENST00000438045ANKIB1chr7

91948826

+PEX1chr7

92138725

-
3UTR-intronENST00000486698ENST00000541751ANKIB1chr7

91948826

+PEX1chr7

92138725

-
5CDS-intronENST00000265742ENST00000541751ANKIB1chr7

91948826

+PEX1chr7

92138725

-
In-frameENST00000265742ENST00000248633ANKIB1chr7

91948826

+PEX1chr7

92138725

-
In-frameENST00000265742ENST00000428214ANKIB1chr7

91948826

+PEX1chr7

92138725

-
In-frameENST00000265742ENST00000438045ANKIB1chr7

91948826

+PEX1chr7

92138725

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000265742ANKIB1chr791948826+ENST00000438045PEX1chr792138725-3747104523533091024
ENST00000265742ANKIB1chr791948826+ENST00000248633PEX1chr792138725-3747104523533091024
ENST00000265742ANKIB1chr791948826+ENST00000428214PEX1chr792138725-313910452353138968

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000265742ENST00000438045ANKIB1chr791948826+PEX1chr792138725-0.0002142050.99978584
ENST00000265742ENST00000248633ANKIB1chr791948826+PEX1chr792138725-0.0002142050.99978584
ENST00000265742ENST00000428214ANKIB1chr791948826+PEX1chr792138725-0.0005437460.9994562

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Fusion Genomic Features for ANKIB1-PEX1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for ANKIB1-PEX1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:91948826/chr7:92138725)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneANKIB1chr7:91948826chr7:92138725ENST00000265742+420144_1732231090.0RepeatNote=ANK 2
HgeneANKIB1chr7:91948826chr7:92138725ENST00000265742+42045_742231090.0RepeatNote=ANK 1
TgenePEX1chr7:91948826chr7:92138725ENST00000248633724599_6065291284.0Nucleotide bindingATP
TgenePEX1chr7:91948826chr7:92138725ENST00000248633724881_8885291284.0Nucleotide bindingATP
TgenePEX1chr7:91948826chr7:92138725ENST00000428214723599_6065291227.0Nucleotide bindingATP
TgenePEX1chr7:91948826chr7:92138725ENST00000428214723881_8885291227.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneANKIB1chr7:91948826chr7:92138725ENST00000265742+420575_6402231090.0Coiled coilOntology_term=ECO:0000255
HgeneANKIB1chr7:91948826chr7:92138725ENST00000265742+420851_8702231090.0DomainUIM
HgeneANKIB1chr7:91948826chr7:92138725ENST00000265742+420329_5692231090.0RegionTRIAD supradomain
HgeneANKIB1chr7:91948826chr7:92138725ENST00000265742+420333_3832231090.0Zinc fingerRING-type 1
HgeneANKIB1chr7:91948826chr7:92138725ENST00000265742+420401_4782231090.0Zinc fingerIBR-type
HgeneANKIB1chr7:91948826chr7:92138725ENST00000265742+420519_5482231090.0Zinc fingerRING-type 2%3B atypical


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Fusion Gene Sequence for ANKIB1-PEX1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>4495_4495_1_ANKIB1-PEX1_ANKIB1_chr7_91948826_ENST00000265742_PEX1_chr7_92138725_ENST00000248633_length(transcript)=3747nt_BP=1045nt
CGCAGCGGCCGGAGAGGGATGGGGGGCGCCCACCCAGTCTGAGCCTCGCCGCGGGCGCCTTCGGCTCACGCAGCGCTTCCCGCGGGCCGC
CAGTGCGCACCCTCGGCCACATCAGCCTCCGCCTGGCGGGTGCACCCGGGCCGGCGAGGAAGGGGCAACCGTCCGGGTGGGTGGGGCGGG
CTGGGTACCTGAGGTCACCAGCTCGGCTGTAGAGGCAGGGGCGGCGGAGGCGGAACTGCGGAGTTGCTGGGTCCACCGACCCTTACCCTC
AGCGAGAGAAGTAACCAATGTGAAAGATGTTGCAGAAGTGTTCCAGAAGTGGCTGAAGATAGAAGGAAAAAAGTGCCACTGCCTATCAGA
AAAAACAAAACAAAACATGGGAAATACAACCACCAAATTCCGTAAAGCACTCATCAATGGTGATGAAAACCTGGCCTGCCAAATATATGA
AAACAATCCTCAGCTAAAAGAATCTCTTGATCCAAATACATCTTATGGGGAGCCCTACCAGCACAATACTCCATTACATTATGCTGCTAG
ACATGGAATGAATAAAATATTAGGGACTTTTCTTGGTAGAGATGGAAATCCAAATAAACGGAATGTGCACAATGAAACATCTATGCATTT
GTTGTGTATGGGACCTCAAATTATGATATCTGAAGGAGCCCTTCATCCTCGCTTGGCACGCCCCACAGAAGATGATTTCAGAAGAGCAGA
TTGTCTGCAGATGATCTTAAAATGGAAAGGAGCAAAACTTGACCAGGGTGAATATGAGAGAGCAGCTATTGATGCTGTTGATAACAAAAA
AAACACACCCTTGCACTATGCTGCTGCCTCAGGGATGAAAGCCTGTGTAGAGCTTTTAGTAAAACATGGAGGAGACTTGTTTGCTGAGAA
TGAAAATAAAGATACTCCTTGTGATTGTGCTGAAAAGCAACACCACAAAGATTTGGCCCTCAATCTGGAATCTCAAATGGTATTCTCACG
GGATCCCGAGGCTGAAGAAATAGAAGCTGAATATGCTGCATTAGACAAACGAGAGGTCCTTCTAGATCCTATGGTAAAAGAAGAAAACAG
TGAGGAAATTGACTTTATTCTTCCTTTTTTAAAGCTGAGCTCTTTGGGAGGAGTGAATTCCTTAGGCGTATCCTCCTTGGAGCACATCAC
TCACAGCCTCCTGGGACGCCCTTTGTCTCGGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGAGGAAA
GGGAAGTGGAAAATCAACTTTAGCCAAAGCAATCTGTAAAGAAGCATTTGACAAACTGGATGCCCATGTGGAGAGAGTTGACTGTAAAGC
TTTACGAGGAAAAAGGCTTGAAAACATACAAAAAACCCTAGAGGTGGCTTTCTCAGAGGCAGTGTGGATGCAGCCATCTGTTGTCCTGCT
GGATGACCTTGACCTCATTGCTGGACTGCCTGCTGTCCCGGAACATGAGCACAGTCCTGATGCGGTGCAGAGCCAGCGGCTTGCTCATGC
TTTGAATGATATGATAAAAGAGTTTATCTCCATGGGAAGTTTGGTTGCACTGATTGCCACAAGTCAGTCTCAGCAATCTCTACATCCTTT
ACTTGTTTCTGCTCAAGGAGTTCACATATTTCAGTGCGTCCAACACATTCAGCCTCCTAATCAGGAACAAAGATGTGAAATTCTGTGTAA
TGTAATAAAAAATAAATTGGACTGTGATATAAACAAGTTCACCGATCTTGACCTGCAGCATGTAGCTAAAGAAACTGGCGGGTTTGTGGC
TAGAGATTTTACAGTACTTGTGGATCGAGCCATACATTCTCGACTCTCTCGTCAGAGTATATCCACCAGAGAAAAATTAGTTTTAACAAC
ATTGGACTTCCAAAAGGCTCTCCGCGGATTTCTTCCTGCGTCTTTGCGAAGTGTCAACCTGCATAAACCTAGAGACCTGGGTTGGGACAA
GATTGGTGGGTTACATGAAGTTAGGCAGATACTCATGGATACTATCCAGTTACCTGCCAAGTATCCAGAATTATTTGCAAACTTGCCCAT
ACGACAAAGAACAGGAATACTGTTGTATGGTCCGCCTGGAACAGGAAAAACCTTACTAGCTGGGGTAATTGCACGAGAGAGTAGAATGAA
TTTTATAAGTGTCAAGGGGCCAGAGTTACTCAGCAAATACATTGGAGCAAGTGAACAAGCTGTTCGGGATATTTTTATTAGAGCACAGGC
TGCAAAGCCCTGCATTCTTTTCTTTGATGAATTTGAATCCATTGCTCCTCGGCGGGGTCATGATAATACAGGAGTTACAGACCGAGTAGT
TAACCAGTTGCTGACTCAGTTGGATGGAGTAGAAGGCTTACAGGGTGTTTATGTATTGGCTGCTACTAGTCGCCCTGACTTGATTGACCC
TGCCCTGCTTAGGCCTGGTCGACTAGATAAATGTGTATACTGTCCTCCTCCTGATCAGGTGTCACGTCTTGAAATTTTAAATGTCCTCAG
TGACTCTCTACCTCTGGCAGATGATGTTGACCTTCAGCATGTAGCATCAGTAACTGACTCCTTTACTGGAGCTGATCTGAAAGCTTTACT
TTACAATGCCCAATTGGAGGCCTTACATGGAATGCTGCTCTCGAGTGGACTCCAGGATGGAAGTTCCAGCTCTGATAGTGACCTAAGTCT
GTCTTCAATGGTCTTTCTTAACCATAGCAGTGGCTCTGACGATTCAGCTGGAGATGGAGAATGTGGCTTAGATCAGTCCCTTGTTTCTTT
AGAGATGTCCGAGATCCTTCCAGATGAATCAAAATTCAATATGTACCGGCTCTACTTTGGAAGCTCTTATGAATCAGAACTTGGAAATGG
AACCTCTTCTGATTTGAGCTCACAATGTCTCTCTGCACCAAGCTCCATGACTCAGGATTTGCCTGGAGTTCCTGGGAAAGACCAGTTGTT
TTCACAGCCTCCAGTGTTAAGGACAGCTTCACAAGAGGGTTGCCAAGAACTTACACAAGAACAAAGAGATCAACTGAGGGCAGATATCAG
TATTATCAAAGGCAGATACCGGAGCCAAAGTGGAGAGGACGAATCCATGAACCAACCAGGACCAATCAAAACCAGACTGGCTATTAGTCA
GTCACATTTAATGACTGCACTTGGTCACACAAGACCATCCATTAGTGAAGATGACTGGAAGAATTTTGCTGAGCTATATGAAAGCTTTCA
AAATCCAAAGAGGAGAAAAAATCAAAGTGGAACAATGTTTCGACCTGGACAGAAAGTAACTTTAGCATAAAATATACTTCTTTTTGATTT
GGTTCTGTTAAGTTTTTTGATGGCTTTTCCATATGTTGTAACAGGAAAAAAATGGTGTCTATGAATTTCTTCTTAATTTAACAAATTTGG
TTAATTTATAAAATCACAGATTGGTAAATGCTATAATTATGTAATGATCAGGATTGAGATTAATACTGTAGTATAAATTGGGACATTATA
ACAGATTCCATATTTTATTTCCTAAAATCTAAATTCAGTCTTTAATGAAATAATATTAGCCAAATGGTGGAACTAATTTATTTCTTTTGA
GGAAAAGATAATAAAGAATGTAATTAAATTTAAATTTCTTGGAATTCCCAGTTGTATATTCATCACCTTTGTAGCATTTGACAAATTTTA

>4495_4495_1_ANKIB1-PEX1_ANKIB1_chr7_91948826_ENST00000265742_PEX1_chr7_92138725_ENST00000248633_length(amino acids)=1024AA_BP=270
MRSCWVHRPLPSAREVTNVKDVAEVFQKWLKIEGKKCHCLSEKTKQNMGNTTTKFRKALINGDENLACQIYENNPQLKESLDPNTSYGEP
YQHNTPLHYAARHGMNKILGTFLGRDGNPNKRNVHNETSMHLLCMGPQIMISEGALHPRLARPTEDDFRRADCLQMILKWKGAKLDQGEY
ERAAIDAVDNKKNTPLHYAAASGMKACVELLVKHGGDLFAENENKDTPCDCAEKQHHKDLALNLESQMVFSRDPEAEEIEAEYAALDKRE
VLLDPMVKEENSEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGGKGSGKSTLAKAICKEAFDK
LDAHVERVDCKALRGKRLENIQKTLEVAFSEAVWMQPSVVLLDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALNDMIKEFISMGSLVALI
ATSQSQQSLHPLLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTDLDLQHVAKETGGFVARDFTVLVDRAIHSRLSRQ
SISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWDKIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTL
LAGVIARESRMNFISVKGPELLSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRVVNQLLTQLDGVEGLQGVYV
LAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDVDLQHVASVTDSFTGADLKALLYNAQLEALHGMLLSSGLQ
DGSSSSDSDLSLSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNMYRLYFGSSYESELGNGTSSDLSSQCLSAPSSMTQ
DLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADISIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDD

--------------------------------------------------------------
>4495_4495_2_ANKIB1-PEX1_ANKIB1_chr7_91948826_ENST00000265742_PEX1_chr7_92138725_ENST00000428214_length(transcript)=3139nt_BP=1045nt
CGCAGCGGCCGGAGAGGGATGGGGGGCGCCCACCCAGTCTGAGCCTCGCCGCGGGCGCCTTCGGCTCACGCAGCGCTTCCCGCGGGCCGC
CAGTGCGCACCCTCGGCCACATCAGCCTCCGCCTGGCGGGTGCACCCGGGCCGGCGAGGAAGGGGCAACCGTCCGGGTGGGTGGGGCGGG
CTGGGTACCTGAGGTCACCAGCTCGGCTGTAGAGGCAGGGGCGGCGGAGGCGGAACTGCGGAGTTGCTGGGTCCACCGACCCTTACCCTC
AGCGAGAGAAGTAACCAATGTGAAAGATGTTGCAGAAGTGTTCCAGAAGTGGCTGAAGATAGAAGGAAAAAAGTGCCACTGCCTATCAGA
AAAAACAAAACAAAACATGGGAAATACAACCACCAAATTCCGTAAAGCACTCATCAATGGTGATGAAAACCTGGCCTGCCAAATATATGA
AAACAATCCTCAGCTAAAAGAATCTCTTGATCCAAATACATCTTATGGGGAGCCCTACCAGCACAATACTCCATTACATTATGCTGCTAG
ACATGGAATGAATAAAATATTAGGGACTTTTCTTGGTAGAGATGGAAATCCAAATAAACGGAATGTGCACAATGAAACATCTATGCATTT
GTTGTGTATGGGACCTCAAATTATGATATCTGAAGGAGCCCTTCATCCTCGCTTGGCACGCCCCACAGAAGATGATTTCAGAAGAGCAGA
TTGTCTGCAGATGATCTTAAAATGGAAAGGAGCAAAACTTGACCAGGGTGAATATGAGAGAGCAGCTATTGATGCTGTTGATAACAAAAA
AAACACACCCTTGCACTATGCTGCTGCCTCAGGGATGAAAGCCTGTGTAGAGCTTTTAGTAAAACATGGAGGAGACTTGTTTGCTGAGAA
TGAAAATAAAGATACTCCTTGTGATTGTGCTGAAAAGCAACACCACAAAGATTTGGCCCTCAATCTGGAATCTCAAATGGTATTCTCACG
GGATCCCGAGGCTGAAGAAATAGAAGCTGAATATGCTGCATTAGACAAACGAGAGGTCCTTCTAGATCCTATGGTAAAAGAAGAAAACAG
TGAGGAAATTGACTTTATTCTTCCTTTTTTAAAGCTGAGCTCTTTGGGAGGAGTGAATTCCTTAGGCGTATCCTCCTTGGAGCACATCAC
TCACAGCCTCCTGGGACGCCCTTTGTCTCGGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGAGGAAA
GGGAAGTGGAAAATCAACTTTAGCCAAAGCAATCTGTAAAGAAGCATTTGACAAACTGGATGCCCATGTGGAGAGAGTTGACTGTAAAGC
TTTACGAGCTTTGAATGATATGATAAAAGAGTTTATCTCCATGGGAAGTTTGGTTGCACTGATTGCCACAAGTCAGTCTCAGCAATCTCT
ACATCCTTTACTTGTTTCTGCTCAAGGAGTTCACATATTTCAGTGCGTCCAACACATTCAGCCTCCTAATCAGGAACAAAGATGTGAAAT
TCTGTGTAATGTAATAAAAAATAAATTGGACTGTGATATAAACAAGTTCACCGATCTTGACCTGCAGCATGTAGCTAAAGAAACTGGCGG
GTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATTCTCGACTCTCTCGTCAGAGTATATCCACCAGAGAAAAATTAGT
TTTAACAACATTGGACTTCCAAAAGGCTCTCCGCGGATTTCTTCCTGCGTCTTTGCGAAGTGTCAACCTGCATAAACCTAGAGACCTGGG
TTGGGACAAGATTGGTGGGTTACATGAAGTTAGGCAGATACTCATGGATACTATCCAGTTACCTGCCAAGTATCCAGAATTATTTGCAAA
CTTGCCCATACGACAAAGAACAGGAATACTGTTGTATGGTCCGCCTGGAACAGGAAAAACCTTACTAGCTGGGGTAATTGCACGAGAGAG
TAGAATGAATTTTATAAGTGTCAAGGGGCCAGAGTTACTCAGCAAATACATTGGAGCAAGTGAACAAGCTGTTCGGGATATTTTTATTAG
AGCACAGGCTGCAAAGCCCTGCATTCTTTTCTTTGATGAATTTGAATCCATTGCTCCTCGGCGGGGTCATGATAATACAGGAGTTACAGA
CCGAGTAGTTAACCAGTTGCTGACTCAGTTGGATGGAGTAGAAGGCTTACAGGGTGTTTATGTATTGGCTGCTACTAGTCGCCCTGACTT
GATTGACCCTGCCCTGCTTAGGCCTGGTCGACTAGATAAATGTGTATACTGTCCTCCTCCTGATCAGGTGTCACGTCTTGAAATTTTAAA
TGTCCTCAGTGACTCTCTACCTCTGGCAGATGATGTTGACCTTCAGCATGTAGCATCAGTAACTGACTCCTTTACTGGAGCTGATCTGAA
AGCTTTACTTTACAATGCCCAATTGGAGGCCTTACATGGAATGCTGCTCTCGAGTGGACTCCAGGATGGAAGTTCCAGCTCTGATAGTGA
CCTAAGTCTGTCTTCAATGGTCTTTCTTAACCATAGCAGTGGCTCTGACGATTCAGCTGGAGATGGAGAATGTGGCTTAGATCAGTCCCT
TGTTTCTTTAGAGATGTCCGAGATCCTTCCAGATGAATCAAAATTCAATATGTACCGGCTCTACTTTGGAAGCTCTTATGAATCAGAACT
TGGAAATGGAACCTCTTCTGATTTGAGCTCACAATGTCTCTCTGCACCAAGCTCCATGACTCAGGATTTGCCTGGAGTTCCTGGGAAAGA
CCAGTTGTTTTCACAGCCTCCAGTGTTAAGGACAGCTTCACAAGAGGGTTGCCAAGAACTTACACAAGAACAAAGAGATCAACTGAGGGC
AGATATCAGTATTATCAAAGGCAGATACCGGAGCCAAAGTGGAGAGGACGAATCCATGAACCAACCAGGACCAATCAAAACCAGACTGGC
TATTAGTCAGTCACATTTAATGACTGCACTTGGTCACACAAGACCATCCATTAGTGAAGATGACTGGAAGAATTTTGCTGAGCTATATGA

>4495_4495_2_ANKIB1-PEX1_ANKIB1_chr7_91948826_ENST00000265742_PEX1_chr7_92138725_ENST00000428214_length(amino acids)=968AA_BP=270
MRSCWVHRPLPSAREVTNVKDVAEVFQKWLKIEGKKCHCLSEKTKQNMGNTTTKFRKALINGDENLACQIYENNPQLKESLDPNTSYGEP
YQHNTPLHYAARHGMNKILGTFLGRDGNPNKRNVHNETSMHLLCMGPQIMISEGALHPRLARPTEDDFRRADCLQMILKWKGAKLDQGEY
ERAAIDAVDNKKNTPLHYAAASGMKACVELLVKHGGDLFAENENKDTPCDCAEKQHHKDLALNLESQMVFSRDPEAEEIEAEYAALDKRE
VLLDPMVKEENSEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGGKGSGKSTLAKAICKEAFDK
LDAHVERVDCKALRALNDMIKEFISMGSLVALIATSQSQQSLHPLLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTD
LDLQHVAKETGGFVARDFTVLVDRAIHSRLSRQSISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWDKIGGLHEVRQILMDTI
QLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRMNFISVKGPELLSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIA
PRRGHDNTGVTDRVVNQLLTQLDGVEGLQGVYVLAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDVDLQHVA
SVTDSFTGADLKALLYNAQLEALHGMLLSSGLQDGSSSSDSDLSLSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNMY
RLYFGSSYESELGNGTSSDLSSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADISIIKGRYRSQSGEDES

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>4495_4495_3_ANKIB1-PEX1_ANKIB1_chr7_91948826_ENST00000265742_PEX1_chr7_92138725_ENST00000438045_length(transcript)=3747nt_BP=1045nt
CGCAGCGGCCGGAGAGGGATGGGGGGCGCCCACCCAGTCTGAGCCTCGCCGCGGGCGCCTTCGGCTCACGCAGCGCTTCCCGCGGGCCGC
CAGTGCGCACCCTCGGCCACATCAGCCTCCGCCTGGCGGGTGCACCCGGGCCGGCGAGGAAGGGGCAACCGTCCGGGTGGGTGGGGCGGG
CTGGGTACCTGAGGTCACCAGCTCGGCTGTAGAGGCAGGGGCGGCGGAGGCGGAACTGCGGAGTTGCTGGGTCCACCGACCCTTACCCTC
AGCGAGAGAAGTAACCAATGTGAAAGATGTTGCAGAAGTGTTCCAGAAGTGGCTGAAGATAGAAGGAAAAAAGTGCCACTGCCTATCAGA
AAAAACAAAACAAAACATGGGAAATACAACCACCAAATTCCGTAAAGCACTCATCAATGGTGATGAAAACCTGGCCTGCCAAATATATGA
AAACAATCCTCAGCTAAAAGAATCTCTTGATCCAAATACATCTTATGGGGAGCCCTACCAGCACAATACTCCATTACATTATGCTGCTAG
ACATGGAATGAATAAAATATTAGGGACTTTTCTTGGTAGAGATGGAAATCCAAATAAACGGAATGTGCACAATGAAACATCTATGCATTT
GTTGTGTATGGGACCTCAAATTATGATATCTGAAGGAGCCCTTCATCCTCGCTTGGCACGCCCCACAGAAGATGATTTCAGAAGAGCAGA
TTGTCTGCAGATGATCTTAAAATGGAAAGGAGCAAAACTTGACCAGGGTGAATATGAGAGAGCAGCTATTGATGCTGTTGATAACAAAAA
AAACACACCCTTGCACTATGCTGCTGCCTCAGGGATGAAAGCCTGTGTAGAGCTTTTAGTAAAACATGGAGGAGACTTGTTTGCTGAGAA
TGAAAATAAAGATACTCCTTGTGATTGTGCTGAAAAGCAACACCACAAAGATTTGGCCCTCAATCTGGAATCTCAAATGGTATTCTCACG
GGATCCCGAGGCTGAAGAAATAGAAGCTGAATATGCTGCATTAGACAAACGAGAGGTCCTTCTAGATCCTATGGTAAAAGAAGAAAACAG
TGAGGAAATTGACTTTATTCTTCCTTTTTTAAAGCTGAGCTCTTTGGGAGGAGTGAATTCCTTAGGCGTATCCTCCTTGGAGCACATCAC
TCACAGCCTCCTGGGACGCCCTTTGTCTCGGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGAGGAAA
GGGAAGTGGAAAATCAACTTTAGCCAAAGCAATCTGTAAAGAAGCATTTGACAAACTGGATGCCCATGTGGAGAGAGTTGACTGTAAAGC
TTTACGAGGAAAAAGGCTTGAAAACATACAAAAAACCCTAGAGGTGGCTTTCTCAGAGGCAGTGTGGATGCAGCCATCTGTTGTCCTGCT
GGATGACCTTGACCTCATTGCTGGACTGCCTGCTGTCCCGGAACATGAGCACAGTCCTGATGCGGTGCAGAGCCAGCGGCTTGCTCATGC
TTTGAATGATATGATAAAAGAGTTTATCTCCATGGGAAGTTTGGTTGCACTGATTGCCACAAGTCAGTCTCAGCAATCTCTACATCCTTT
ACTTGTTTCTGCTCAAGGAGTTCACATATTTCAGTGCGTCCAACACATTCAGCCTCCTAATCAGGAACAAAGATGTGAAATTCTGTGTAA
TGTAATAAAAAATAAATTGGACTGTGATATAAACAAGTTCACCGATCTTGACCTGCAGCATGTAGCTAAAGAAACTGGCGGGTTTGTGGC
TAGAGATTTTACAGTACTTGTGGATCGAGCCATACATTCTCGACTCTCTCGTCAGAGTATATCCACCAGAGAAAAATTAGTTTTAACAAC
ATTGGACTTCCAAAAGGCTCTCCGCGGATTTCTTCCTGCGTCTTTGCGAAGTGTCAACCTGCATAAACCTAGAGACCTGGGTTGGGACAA
GATTGGTGGGTTACATGAAGTTAGGCAGATACTCATGGATACTATCCAGTTACCTGCCAAGTATCCAGAATTATTTGCAAACTTGCCCAT
ACGACAAAGAACAGGAATACTGTTGTATGGTCCGCCTGGAACAGGAAAAACCTTACTAGCTGGGGTAATTGCACGAGAGAGTAGAATGAA
TTTTATAAGTGTCAAGGGGCCAGAGTTACTCAGCAAATACATTGGAGCAAGTGAACAAGCTGTTCGGGATATTTTTATTAGAGCACAGGC
TGCAAAGCCCTGCATTCTTTTCTTTGATGAATTTGAATCCATTGCTCCTCGGCGGGGTCATGATAATACAGGAGTTACAGACCGAGTAGT
TAACCAGTTGCTGACTCAGTTGGATGGAGTAGAAGGCTTACAGGGTGTTTATGTATTGGCTGCTACTAGTCGCCCTGACTTGATTGACCC
TGCCCTGCTTAGGCCTGGTCGACTAGATAAATGTGTATACTGTCCTCCTCCTGATCAGGTGTCACGTCTTGAAATTTTAAATGTCCTCAG
TGACTCTCTACCTCTGGCAGATGATGTTGACCTTCAGCATGTAGCATCAGTAACTGACTCCTTTACTGGAGCTGATCTGAAAGCTTTACT
TTACAATGCCCAATTGGAGGCCTTACATGGAATGCTGCTCTCGAGTGGACTCCAGGATGGAAGTTCCAGCTCTGATAGTGACCTAAGTCT
GTCTTCAATGGTCTTTCTTAACCATAGCAGTGGCTCTGACGATTCAGCTGGAGATGGAGAATGTGGCTTAGATCAGTCCCTTGTTTCTTT
AGAGATGTCCGAGATCCTTCCAGATGAATCAAAATTCAATATGTACCGGCTCTACTTTGGAAGCTCTTATGAATCAGAACTTGGAAATGG
AACCTCTTCTGATTTGAGCTCACAATGTCTCTCTGCACCAAGCTCCATGACTCAGGATTTGCCTGGAGTTCCTGGGAAAGACCAGTTGTT
TTCACAGCCTCCAGTGTTAAGGACAGCTTCACAAGAGGGTTGCCAAGAACTTACACAAGAACAAAGAGATCAACTGAGGGCAGATATCAG
TATTATCAAAGGCAGATACCGGAGCCAAAGTGGAGAGGACGAATCCATGAACCAACCAGGACCAATCAAAACCAGACTGGCTATTAGTCA
GTCACATTTAATGACTGCACTTGGTCACACAAGACCATCCATTAGTGAAGATGACTGGAAGAATTTTGCTGAGCTATATGAAAGCTTTCA
AAATCCAAAGAGGAGAAAAAATCAAAGTGGAACAATGTTTCGACCTGGACAGAAAGTAACTTTAGCATAAAATATACTTCTTTTTGATTT
GGTTCTGTTAAGTTTTTTGATGGCTTTTCCATATGTTGTAACAGGAAAAAAATGGTGTCTATGAATTTCTTCTTAATTTAACAAATTTGG
TTAATTTATAAAATCACAGATTGGTAAATGCTATAATTATGTAATGATCAGGATTGAGATTAATACTGTAGTATAAATTGGGACATTATA
ACAGATTCCATATTTTATTTCCTAAAATCTAAATTCAGTCTTTAATGAAATAATATTAGCCAAATGGTGGAACTAATTTATTTCTTTTGA
GGAAAAGATAATAAAGAATGTAATTAAATTTAAATTTCTTGGAATTCCCAGTTGTATATTCATCACCTTTGTAGCATTTGACAAATTTTA

>4495_4495_3_ANKIB1-PEX1_ANKIB1_chr7_91948826_ENST00000265742_PEX1_chr7_92138725_ENST00000438045_length(amino acids)=1024AA_BP=270
MRSCWVHRPLPSAREVTNVKDVAEVFQKWLKIEGKKCHCLSEKTKQNMGNTTTKFRKALINGDENLACQIYENNPQLKESLDPNTSYGEP
YQHNTPLHYAARHGMNKILGTFLGRDGNPNKRNVHNETSMHLLCMGPQIMISEGALHPRLARPTEDDFRRADCLQMILKWKGAKLDQGEY
ERAAIDAVDNKKNTPLHYAAASGMKACVELLVKHGGDLFAENENKDTPCDCAEKQHHKDLALNLESQMVFSRDPEAEEIEAEYAALDKRE
VLLDPMVKEENSEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGGKGSGKSTLAKAICKEAFDK
LDAHVERVDCKALRGKRLENIQKTLEVAFSEAVWMQPSVVLLDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALNDMIKEFISMGSLVALI
ATSQSQQSLHPLLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTDLDLQHVAKETGGFVARDFTVLVDRAIHSRLSRQ
SISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWDKIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTL
LAGVIARESRMNFISVKGPELLSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRVVNQLLTQLDGVEGLQGVYV
LAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDVDLQHVASVTDSFTGADLKALLYNAQLEALHGMLLSSGLQ
DGSSSSDSDLSLSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNMYRLYFGSSYESELGNGTSSDLSSQCLSAPSSMTQ
DLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADISIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDD

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Fusion Gene PPI Analysis for ANKIB1-PEX1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ANKIB1-PEX1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ANKIB1-PEX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0282527Infantile Refsum Disease (disorder)9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC4721541PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)9GENOMICS_ENGLAND;UNIPROT
TgeneC0043459Zellweger Syndrome5CTD_human;GENOMICS_ENGLAND
TgeneC1832200Peroxisome biogenesis disorders4CTD_human;GENOMICS_ENGLAND
TgeneC0751594Zellweger-Like Syndrome3CTD_human
TgeneC3658299Zellweger Spectrum3CTD_human
TgeneC4551980HEIMLER SYNDROME 13GENOMICS_ENGLAND;UNIPROT
TgeneC0002452Amelogenesis Imperfecta1GENOMICS_ENGLAND
TgeneC0162309Adrenoleukodystrophy1GENOMICS_ENGLAND
TgeneC1856186Deafness enamel hypoplasia nail defects1CTD_human;ORPHANET
TgeneC4478871Hypomineralized amelogenesis imperfecta1GENOMICS_ENGLAND