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in Kim Lab

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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:AP3B1-MRPS36 (FusionGDB2 ID:HG8546TG92259)

Fusion Gene Summary for AP3B1-MRPS36

check button Fusion gene summary
Fusion gene informationFusion gene name: AP3B1-MRPS36
Fusion gene ID: hg8546tg92259
HgeneTgene
Gene symbol

AP3B1

MRPS36

Gene ID

8546

92259

Gene nameadaptor related protein complex 3 subunit beta 1mitochondrial ribosomal protein S36
SynonymsADTB3|ADTB3A|HPS|HPS2|PEDC47|MRP-S36
Cytomap('AP3B1')('MRPS36')

5q14.1

5q13.2

Type of geneprotein-codingprotein-coding
DescriptionAP-3 complex subunit beta-1AP-3 complex beta-3A subunitadaptor protein complex AP-3 subunit beta-1adaptor related protein complex 3 beta 1 subunitbeta-3A-adaptinclathrin assembly protein complex 3 beta-1 large chain28S ribosomal protein S36, mitochondrialS36mt
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000255194, ENST00000519295, 
ENST00000523204, 
Fusion gene scores* DoF score10 X 12 X 6=7202 X 2 X 2=8
# samples 122
** MAII scorelog2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: AP3B1 [Title/Abstract] AND MRPS36 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAP3B1(77385216)-MRPS36(68522164), # samples:1
Anticipated loss of major functional domain due to fusion event.AP3B1-MRPS36 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.
AP3B1-MRPS36 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 AP3B1 (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 MRPS36 (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
ChimerDB4Non-Cancer61NAP3B1chr5

77385216

-MRPS36chr5

68522164

+


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Fusion Gene ORF analysis for AP3B1-MRPS36

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
5CDS-5UTRENST00000255194ENST00000512880AP3B1chr5

77385216

-MRPS36chr5

68522164

+
5CDS-5UTRENST00000255194ENST00000602380AP3B1chr5

77385216

-MRPS36chr5

68522164

+
5CDS-5UTRENST00000519295ENST00000512880AP3B1chr5

77385216

-MRPS36chr5

68522164

+
5CDS-5UTRENST00000519295ENST00000602380AP3B1chr5

77385216

-MRPS36chr5

68522164

+
5CDS-intronENST00000255194ENST00000507022AP3B1chr5

77385216

-MRPS36chr5

68522164

+
5CDS-intronENST00000519295ENST00000507022AP3B1chr5

77385216

-MRPS36chr5

68522164

+
In-frameENST00000255194ENST00000256441AP3B1chr5

77385216

-MRPS36chr5

68522164

+
In-frameENST00000519295ENST00000256441AP3B1chr5

77385216

-MRPS36chr5

68522164

+
intron-3CDSENST00000523204ENST00000256441AP3B1chr5

77385216

-MRPS36chr5

68522164

+
intron-5UTRENST00000523204ENST00000512880AP3B1chr5

77385216

-MRPS36chr5

68522164

+
intron-5UTRENST00000523204ENST00000602380AP3B1chr5

77385216

-MRPS36chr5

68522164

+
intron-intronENST00000523204ENST00000507022AP3B1chr5

77385216

-MRPS36chr5

68522164

+

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)
ENST00000255194AP3B1chr577385216-ENST00000256441MRPS36chr568522164+39272753653022985
ENST00000519295AP3B1chr577385216-ENST00000256441MRPS36chr568522164+387627022722971899

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
ENST00000255194ENST00000256441AP3B1chr577385216-MRPS36chr568522164+0.0005294370.99947053
ENST00000519295ENST00000256441AP3B1chr577385216-MRPS36chr568522164+0.0005006960.9994993

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Fusion Genomic Features for AP3B1-MRPS36


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)
AP3B1chr577385216-MRPS36chr568522168+0.0001179750.999882
AP3B1chr577385216-MRPS36chr568522168+0.0001179750.999882

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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for AP3B1-MRPS36


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/chr5:77385216/chr5:68522164)
- 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
HgeneAP3B1chr5:77385216chr5:68522164ENST00000255194-2227677_8028591095.0Compositional biasNote=Glu/Ser-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for AP3B1-MRPS36


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.
>5269_5269_1_AP3B1-MRPS36_AP3B1_chr5_77385216_ENST00000255194_MRPS36_chr5_68522164_ENST00000256441_length(transcript)=3927nt_BP=2753nt
ACTGCGCATGCGCAGGGGGTGGACTGCCAGGTCGGCTCAGGGAGCCGTGACGAGTCCGGAAGCGCCTGCGCGCGCTCCTCCGTACGAGAA
CTAGTTTTGTTCCGTGCCCTCTGGACTGGAACCTTTTGGAGAGAACCCCCGGCAGGACCAACCCCGCACCCGCCAGCACCGCGGCAATGT
CCAGCAATAGTTTTCCTTACAATGAGCAGTCCGGAGGAGGGGAGGCGACGGAGCTGGGTCAGGAGGCGACCTCAACCATTTCCCCCTCGG
GGGCCTTCGGCCTCTTTAGCAGCGATTTGAAGAAGAATGAAGATCTAAAGCAAATGTTAGAGAGCAACAAAGATTCTGCTAAACTGGATG
CTATGAAGCGGATTGTTGGGATGATTGCAAAAGGGAAAAATGCATCTGAACTGTTTCCTGCTGTTGTGAAGAATGTGGCCAGTAAAAATA
TTGAGATCAAGAAGTTGGTATATGTTTACCTGGTTCGATATGCTGAAGAACAGCAGGATCTTGCACTCCTGTCCATAAGCACTTTTCAGC
GAGCTCTGAAGGACCCAAACCAACTAATTCGTGCAAGCGCTTTGAGAGTTCTGTCAAGTATTAGAGTGCCAATTATTGTACCTATCATGA
TGCTTGCTATTAAGGAAGCTTCTGCTGACTTATCACCATATGTTAGGAAGAATGCAGCCCATGCAATACAAAAATTATACAGCCTTGATC
CAGAGCAGAAGGAAATGTTAATTGAAGTAATTGAAAAACTTCTGAAAGATAAAAGCACATTGGTAGCTGGCAGTGTTGTGATGGCTTTTG
AAGAAGTATGCCCGGACAGAATAGATCTGATTCATAAAAATTACCGCAAGCTATGTAACTTACTAGTGGATGTTGAAGAGTGGGGGCAGG
TTGTCATAATCCACATGCTAACTCGATATGCTCGGACACAGTTTGTCAGCCCTTGGAAAGAGGGTGATGAATTAGAAGACAATGGAAAGA
ATTTCTACGAATCTGATGATGATCAGAAGGAAAAGACTGACAAAAAGAAGAAGCCGTATACTATGGATCCAGATCATAGACTCTTAATTA
GAAATACAAAGCCTTTGCTTCAGAGCAGGAATGCTGCGGTGGTTATGGCAGTTGCTCAGCTGTATTGGCACATATCACCAAAATCTGAAG
CTGGCATAATTTCTAAATCACTAGTGCGTTTACTTCGTAGCAATAGGGAGGTGCAGTATATTGTCCTACAAAATATAGCAACTATGTCAA
TTCAAAGAAAGGGGATGTTTGAACCTTATCTGAAGAGTTTCTATGTTAGGTCAACTGATCCAACTATGATCAAGACACTGAAGCTTGAAA
TTTTGACAAACTTGGCAAATGAAGCCAACATATCAACTCTTCTTCGAGAATTTCAGACCTATGTGAAAAGCCAGGATAAACAATTTGCAG
CAGCCACTATTCAGACTATAGGCAGATGTGCAACCAACATCTTGGAAGTCACTGACACGTGCCTCAATGGCTTGGTCTGTCTGCTGTCCA
ACAGGGATGAAATAGTTGTTGCTGAAAGTGTGGTTGTTATAAAGAAATTACTGCAAATGCAACCTGCACAACATGGTGAAATTATTAAAC
ATATGGCCAAACTCCTGGACAGTATCACTGTTCCTGTTGCTAGAGCAAGTATTCTTTGGCTAATTGGAGAAAACTGTGAACGAGTTCCTA
AAATTGCCCCTGATGTTTTGAGGAAGATGGCTAAAAGCTTCACTAGTGAAGATGATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAA
AATTGTATTTAACCAACTCCAAACAGACAAAATTGCTTACCCAGTACATATTAAATCTCGGCAAGTATGATCAAAACTACGACATCAGAG
ACCGTACAAGATTTATTAGGCAGCTTATTGTTCCGAATGTAAAGAGTGGAGCTTTAAGTAAATATGCCAAAAAAATATTCCTAGCACAAA
AGCCTGCACCACTGCTTGAGTCTCCTTTTAAAGATAGAGATCATTTCCAGCTTGGCACCTTATCTCATACTCTCAACATTAAAGCTACTG
GGTACCTGGAATTATCTAATTGGCCAGAGGTGGCGCCCGACCCATCAGTTCGAAATGTAGAAGTAATAGAGTTGGCAAAAGAATGGACCC
CAGCAGGAAAAGCAAAGCAAGAGAATTCTGCTAAGAAGTTTTATTCTGAATCTGAGGAAGAGGAGGACTCTTCTGATAGTAGCAGTGACA
GTGAGAGTGAATCTGGAAGTGAAAGTGGAGAACAAGGCGAAAGTGGGGAGGAAGGAGACAGCAATGAGGACAGCAGTGAGGACTCCTCCA
GTGAGCAGGACAGTGAGAGTGGACGGGAGTCAGGCCTAGAAAACAAAAGAACAGCCAAGAGGAACTCAAAAGCCAAAGGAAAAAGTGATT
CTGAAGATGGGGAGAAGGAAAATGAAAAATCTAAAACTTCAGATTCTTCAAATGACGAATCTAGTTCAATAGAAGACAGTTCTTCCGATT
CTGAATCAGAGTCAGAACCTGAAAGTGAATCTGAATCCAGAAGAGTCACTAAGGAGAAAGAAAAGAAAACAAAGCAAGATAGAACTCCTC
TTACCAAAGATGTTTCACTTCTAGATCTGGATGATTTTAACCCAGTATCCACTCCAGTTGCACTTCCCACACCAGCTCTTTCTCCAAGTT
TGATGGCTGATCTTGAAGGTTTACACTTGTCAACTTCCTCTTCAGTCATCAGTGTAGTCAAACCACACACTCCATTAATAAGGTTTCCTG
ACAGAAGAGACAATCCTAAACCCAATGTATCAGAAGCTTTGAGATCAGCAGGGCTACCATCTCACTCTTCTGTAATTTCACAACATTCTA
AAGGAAGTAAATCACCAGATTTGCTGATGTATCAGGGTCCACCAGACACTGCAGAAATAATAAAAACATTACCTCAGAAATACAGAAGGA
AACTTGTGTCTCAAGAAGAAATGGAATTTATCCAACGTGGAGGTCCTGAATAACCATGGTGGCTGCTGTTTGTCATCAGACAATAGAATT
GTCTTTACAATAAAGGACTTCCAAAATGACAGATGAGAAACTGTATATTAAACACCTTTAATAAATATTATGAAAAAAATGAAATATAGA
AAATTTAGATGGACACTTGTATTTCCTAATTTATGTATCTTGGTCAGCTTCTCCACAAGCTTACCTAATTGTTTATATACTTTATACTTA
TTAAAGTATACATTTTTAAATGTTAGCCTATTAATTTACTCTTGATTATCAAACATTACCAGTGTTGAACTATTAAAAGCACACAATGTG
TAGTAAACTATCATAGGATTCCCATAATTTCACTTTACTTTCTGTTTAGGCATGGAAAAATTTATCAGTCAGAATTGCTGTTTTAGGGAC
ATGATTTTCCTGAAATTGGGTGAGGATCAGTGAAATAATTACTCTATTACTTGTTCTTAATTCTCTGTTCTCTAATGTTTTTTCATTCAC
AAGTTTACTGGAGTATAACTGGCTTAGTAAGTATATCCTACTCTGAATGATAAAAATATAGTCAAGCTAAAATAGGTGACTATACTATTA
AGATAGAGATCATACAAAAGATTCCAAAGAAAGTCAAAAAGTGTAAAATGGAAAATAAGAGATCAAAATGAATATAGCATAGGAATAAAG
ATTTCACTAGAAATTGCAATTTATTATGTTTTGGAGGTTGTAAGGAAGTCTTGTTTTTTGGTTTATTTTACTGTTTTGTGATCTTGTATG
CAAATCCTGATAACCATTAACCTTCTCAAACTTAATGTCTGAGAGCCTCATAAAATCAACATATTTACTTATTAAGCAGTTTATGAAACT
TTAATGGGGCCCCTCCTGTGCCAAGGGTACGTATATTGTGAAGTAAAGCCTCACAAA

>5269_5269_1_AP3B1-MRPS36_AP3B1_chr5_77385216_ENST00000255194_MRPS36_chr5_68522164_ENST00000256441_length(amino acids)=985AA_BP=894
MRALLRTRTSFVPCPLDWNLLERTPGRTNPAPASTAAMSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLES
NKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIR
VPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLL
VDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLY
WHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYV
KSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLI
GENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKY
AKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEE
DSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESS
SIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVVKP
HTPLIRFPDRRDNPKPNVSEALRSAGLPSHSSVISQHSKGSKSPDLLMYQGPPDTAEIIKTLPQKYRRKLVSQEEMEFIQRGGPE

--------------------------------------------------------------
>5269_5269_2_AP3B1-MRPS36_AP3B1_chr5_77385216_ENST00000519295_MRPS36_chr5_68522164_ENST00000256441_length(transcript)=3876nt_BP=2702nt
GCCTGCGCGCGCTCCTCCGTACGAGAACTAGTTTTGTTCCGTGCCCTCTGGACTGGAACCTTTTGGAGAGAACCCCCGGCAGGACCAACC
CCGCACCCGCCAGCACCGCGGCAATGTCCAGCAATAGTTTTCCTTACAATGAGCAGTCCGGAGGAGGGGAGGCGACGGAGCTGGGTCAGG
AGGCGACCTCAACCATTTCCCCCTCGGGGGCCTTCGGCCTCTTTAGCAGCGATTTGAAGAAGTGAGGAGAAAGGAATGAAGATCTAAAGC
AAATGTTAGAGAGCAACAAAGATTCTGCTAAACTGGATGCTATGAAGCGGATTGTTGGGATGATTGCAAAAGGGAAAAATGCATCTGAAC
TGTTTCCTGCTGTTGTGAAGAATGTGGCCAGTAAAAATATTGAGATCAAGAAGTTGGTATATGTTTACCTGGTTCGATATGCTGAAGAAC
AGCAGGATCTTGCACTCCTGTCCATAAGCACTTTTCAGCGAGCTCTGAAGGACCCAAACCAACTAATTCGTGCAAGCGCTTTGAGAGTTC
TGTCAAGTATTAGAGTGCCAATTATTGTACCTATCATGATGCTTGCTATTAAGGAAGCTTCTGCTGACTTATCACCATATGTTAGGAAGA
ATGCAGCCCATGCAATACAAAAATTATACAGCCTTGATCCAGAGCAGAAGGAAATGTTAATTGAAGTAATTGAAAAACTTCTGAAAGATA
AAAGCACATTGGTAGCTGGCAGTGTTGTGATGGCTTTTGAAGAAGTATGCCCGGACAGAATAGATCTGATTCATAAAAATTACCGCAAGC
TATGTAACTTACTAGTGGATGTTGAAGAGTGGGGGCAGGTTGTCATAATCCACATGCTAACTCGATATGCTCGGACACAGTTTGTCAGCC
CTTGGAAAGAGGGTGATGAATTAGAAGACAATGGAAAGAATTTCTACGAATCTGATGATGATCAGAAGGAAAAGACTGACAAAAAGAAGA
AGCCGTATACTATGGATCCAGATCATAGACTCTTAATTAGAAATACAAAGCCTTTGCTTCAGAGCAGGAATGCTGCGGTGGTTATGGCAG
TTGCTCAGCTGTATTGGCACATATCACCAAAATCTGAAGCTGGCATAATTTCTAAATCACTAGTGCGTTTACTTCGTAGCAATAGGGAGG
TGCAGTATATTGTCCTACAAAATATAGCAACTATGTCAATTCAAAGAAAGGGGATGTTTGAACCTTATCTGAAGAGTTTCTATGTTAGGT
CAACTGATCCAACTATGATCAAGACACTGAAGCTTGAAATTTTGACAAACTTGGCAAATGAAGCCAACATATCAACTCTTCTTCGAGAAT
TTCAGACCTATGTGAAAAGCCAGGATAAACAATTTGCAGCAGCCACTATTCAGACTATAGGCAGATGTGCAACCAACATCTTGGAAGTCA
CTGACACGTGCCTCAATGGCTTGGTCTGTCTGCTGTCCAACAGGGATGAAATAGTTGTTGCTGAAAGTGTGGTTGTTATAAAGAAATTAC
TGCAAATGCAACCTGCACAACATGGTGAAATTATTAAACATATGGCCAAACTCCTGGACAGTATCACTGTTCCTGTTGCTAGAGCAAGTA
TTCTTTGGCTAATTGGAGAAAACTGTGAACGAGTTCCTAAAATTGCCCCTGATGTTTTGAGGAAGATGGCTAAAAGCTTCACTAGTGAAG
ATGATCTGGTAAAACTGCAGATATTAAATCTGGGAGCAAAATTGTATTTAACCAACTCCAAACAGACAAAATTGCTTACCCAGTACATAT
TAAATCTCGGCAAGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGCTTATTGTTCCGAATGTAAAGAGTGGAG
CTTTAAGTAAATATGCCAAAAAAATATTCCTAGCACAAAAGCCTGCACCACTGCTTGAGTCTCCTTTTAAAGATAGAGATCATTTCCAGC
TTGGCACCTTATCTCATACTCTCAACATTAAAGCTACTGGGTACCTGGAATTATCTAATTGGCCAGAGGTGGCGCCCGACCCATCAGTTC
GAAATGTAGAAGTAATAGAGTTGGCAAAAGAATGGACCCCAGCAGGAAAAGCAAAGCAAGAGAATTCTGCTAAGAAGTTTTATTCTGAAT
CTGAGGAAGAGGAGGACTCTTCTGATAGTAGCAGTGACAGTGAGAGTGAATCTGGAAGTGAAAGTGGAGAACAAGGCGAAAGTGGGGAGG
AAGGAGACAGCAATGAGGACAGCAGTGAGGACTCCTCCAGTGAGCAGGACAGTGAGAGTGGACGGGAGTCAGGCCTAGAAAACAAAAGAA
CAGCCAAGAGGAACTCAAAAGCCAAAGGAAAAAGTGATTCTGAAGATGGGGAGAAGGAAAATGAAAAATCTAAAACTTCAGATTCTTCAA
ATGACGAATCTAGTTCAATAGAAGACAGTTCTTCCGATTCTGAATCAGAGTCAGAACCTGAAAGTGAATCTGAATCCAGAAGAGTCACTA
AGGAGAAAGAAAAGAAAACAAAGCAAGATAGAACTCCTCTTACCAAAGATGTTTCACTTCTAGATCTGGATGATTTTAACCCAGTATCCA
CTCCAGTTGCACTTCCCACACCAGCTCTTTCTCCAAGTTTGATGGCTGATCTTGAAGGTTTACACTTGTCAACTTCCTCTTCAGTCATCA
GTGTAGTCAAACCACACACTCCATTAATAAGGTTTCCTGACAGAAGAGACAATCCTAAACCCAATGTATCAGAAGCTTTGAGATCAGCAG
GGCTACCATCTCACTCTTCTGTAATTTCACAACATTCTAAAGGAAGTAAATCACCAGATTTGCTGATGTATCAGGGTCCACCAGACACTG
CAGAAATAATAAAAACATTACCTCAGAAATACAGAAGGAAACTTGTGTCTCAAGAAGAAATGGAATTTATCCAACGTGGAGGTCCTGAAT
AACCATGGTGGCTGCTGTTTGTCATCAGACAATAGAATTGTCTTTACAATAAAGGACTTCCAAAATGACAGATGAGAAACTGTATATTAA
ACACCTTTAATAAATATTATGAAAAAAATGAAATATAGAAAATTTAGATGGACACTTGTATTTCCTAATTTATGTATCTTGGTCAGCTTC
TCCACAAGCTTACCTAATTGTTTATATACTTTATACTTATTAAAGTATACATTTTTAAATGTTAGCCTATTAATTTACTCTTGATTATCA
AACATTACCAGTGTTGAACTATTAAAAGCACACAATGTGTAGTAAACTATCATAGGATTCCCATAATTTCACTTTACTTTCTGTTTAGGC
ATGGAAAAATTTATCAGTCAGAATTGCTGTTTTAGGGACATGATTTTCCTGAAATTGGGTGAGGATCAGTGAAATAATTACTCTATTACT
TGTTCTTAATTCTCTGTTCTCTAATGTTTTTTCATTCACAAGTTTACTGGAGTATAACTGGCTTAGTAAGTATATCCTACTCTGAATGAT
AAAAATATAGTCAAGCTAAAATAGGTGACTATACTATTAAGATAGAGATCATACAAAAGATTCCAAAGAAAGTCAAAAAGTGTAAAATGG
AAAATAAGAGATCAAAATGAATATAGCATAGGAATAAAGATTTCACTAGAAATTGCAATTTATTATGTTTTGGAGGTTGTAAGGAAGTCT
TGTTTTTTGGTTTATTTTACTGTTTTGTGATCTTGTATGCAAATCCTGATAACCATTAACCTTCTCAAACTTAATGTCTGAGAGCCTCAT
AAAATCAACATATTTACTTATTAAGCAGTTTATGAAACTTTAATGGGGCCCCTCCTGTGCCAAGGGTACGTATATTGTGAAGTAAAGCCT
CACAAA

>5269_5269_2_AP3B1-MRPS36_AP3B1_chr5_77385216_ENST00000519295_MRPS36_chr5_68522164_ENST00000256441_length(amino acids)=899AA_BP=808
MLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVL
SSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKL
CNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAV
AQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREF
QTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASI
LWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGA
LSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSES
EEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSN
DESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVIS
VVKPHTPLIRFPDRRDNPKPNVSEALRSAGLPSHSSVISQHSKGSKSPDLLMYQGPPDTAEIIKTLPQKYRRKLVSQEEMEFIQRGGPE

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Fusion Gene PPI Analysis for AP3B1-MRPS36


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 AP3B1-MRPS36


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 AP3B1-MRPS36


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP3B1C1842362HERMANSKY-PUDLAK SYNDROME 26CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAP3B1C0024115Lung diseases1GENOMICS_ENGLAND
HgeneAP3B1C0034069Pulmonary Fibrosis1GENOMICS_ENGLAND
HgeneAP3B1C0079504Hermanski-Pudlak Syndrome1GENOMICS_ENGLAND