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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:LARGE-PPFIA1 (FusionGDB2 ID:43834)

Fusion Gene Summary for LARGE-PPFIA1

check button Fusion gene summary
Fusion gene informationFusion gene name: LARGE-PPFIA1
Fusion gene ID: 43834
HgeneTgene
Gene symbol

LARGE

PPFIA1

Gene ID

9215

8500

Gene nameLARGE xylosyl- and glucuronyltransferase 1PTPRF interacting protein alpha 1
SynonymsLARGE|MDC1D|MDDGA6|MDDGB6LIP.1|LIP1|LIPRIN
Cytomap

22q12.3

11q13.3

Type of geneprotein-codingprotein-coding
DescriptionLARGE xylosyl- and glucuronyltransferase 1acetylglucosaminyltransferase-like 1Aacetylglucosaminyltransferase-like proteinglycosyltransferase-like protein LARGE1liprin-alpha-1LAR-interacting protein 1LIP-1Liprin-alpha1protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
Modification date2020032820200327
UniProtAcc

GYLTL1B,LARGE2

.
Ensembl transtripts involved in fusion geneENST00000337431, ENST00000354992, 
ENST00000397394, ENST00000402320, 
ENST00000452586, ENST00000437602, 
ENST00000421232, 		ENST00000253925, 
ENST00000389547, ENST00000530548, 
Fusion gene scores* DoF score10 X 9 X 6=54019 X 19 X 10=3610
# samples 1324
** MAII scorelog2(13/540*10)=-2.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(24/3610*10)=-3.91089252616601
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LARGE [Title/Abstract] AND PPFIA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLARGE(33777905)-PPFIA1(70218321), # samples:1
Anticipated loss of major functional domain due to fusion event.LARGE-PPFIA1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
LARGE-PPFIA1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneLARGE

GO:0035269

protein O-linked mannosylation

22223806|25138275|25279697|25279699


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

check buttonFusion gene breakpoints across PPFIA1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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-CancerERR315413LARGEchr22

33777905

-PPFIA1chr11

70218321

+


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Fusion Gene ORF analysis for LARGE-PPFIA1

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
Frame-shiftENST00000337431ENST00000253925LARGEchr22

33777905

-PPFIA1chr11

70218321

+
Frame-shiftENST00000337431ENST00000389547LARGEchr22

33777905

-PPFIA1chr11

70218321

+
5CDS-3UTRENST00000337431ENST00000530548LARGEchr22

33777905

-PPFIA1chr11

70218321

+
Frame-shiftENST00000354992ENST00000253925LARGEchr22

33777905

-PPFIA1chr11

70218321

+
Frame-shiftENST00000354992ENST00000389547LARGEchr22

33777905

-PPFIA1chr11

70218321

+
5CDS-3UTRENST00000354992ENST00000530548LARGEchr22

33777905

-PPFIA1chr11

70218321

+
Frame-shiftENST00000397394ENST00000253925LARGEchr22

33777905

-PPFIA1chr11

70218321

+
Frame-shiftENST00000397394ENST00000389547LARGEchr22

33777905

-PPFIA1chr11

70218321

+
5CDS-3UTRENST00000397394ENST00000530548LARGEchr22

33777905

-PPFIA1chr11

70218321

+
Frame-shiftENST00000402320ENST00000253925LARGEchr22

33777905

-PPFIA1chr11

70218321

+
Frame-shiftENST00000402320ENST00000389547LARGEchr22

33777905

-PPFIA1chr11

70218321

+
5CDS-3UTRENST00000402320ENST00000530548LARGEchr22

33777905

-PPFIA1chr11

70218321

+
In-frameENST00000452586ENST00000253925LARGEchr22

33777905

-PPFIA1chr11

70218321

+
In-frameENST00000452586ENST00000389547LARGEchr22

33777905

-PPFIA1chr11

70218321

+
5CDS-3UTRENST00000452586ENST00000530548LARGEchr22

33777905

-PPFIA1chr11

70218321

+
Frame-shiftENST00000437602ENST00000253925LARGEchr22

33777905

-PPFIA1chr11

70218321

+
Frame-shiftENST00000437602ENST00000389547LARGEchr22

33777905

-PPFIA1chr11

70218321

+
5CDS-3UTRENST00000437602ENST00000530548LARGEchr22

33777905

-PPFIA1chr11

70218321

+
intron-3CDSENST00000421232ENST00000253925LARGEchr22

33777905

-PPFIA1chr11

70218321

+
intron-3CDSENST00000421232ENST00000389547LARGEchr22

33777905

-PPFIA1chr11

70218321

+
intron-3UTRENST00000421232ENST00000530548LARGEchr22

33777905

-PPFIA1chr11

70218321

+

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)
ENST00000452586LARGEchr2233777905-ENST00000253925PPFIA1chr1170218321+2779625971368423
ENST00000452586LARGEchr2233777905-ENST00000389547PPFIA1chr1170218321+1695625971317406

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
ENST00000452586ENST00000253925LARGEchr2233777905-PPFIA1chr1170218321+0.0008025310.9991974
ENST00000452586ENST00000389547LARGEchr2233777905-PPFIA1chr1170218321+0.0013650480.9986349

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Fusion Genomic Features for LARGE-PPFIA1


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)
LARGEchr2233777904-PPFIA1chr1170218320+5.55E-081
LARGEchr2233777904-PPFIA1chr1170218320+5.55E-081

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.

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.

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Fusion Protein Features for LARGE-PPFIA1


check button Go to

FGviewer for the breakpoints of chr22:33777905-chr11:70218321

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LARGE

GYLTL1B,LARGE2

.
721FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneLARGEchr22:33777905chr11:70218321ENST00000337431-101553_95377.0705.0Coiled coilOntology_term=ECO:0000255
HgeneLARGEchr22:33777905chr11:70218321ENST00000354992-101653_95377.0757.0Coiled coilOntology_term=ECO:0000255
HgeneLARGEchr22:33777905chr11:70218321ENST00000397394-91553_95377.0757.0Coiled coilOntology_term=ECO:0000255
HgeneLARGEchr22:33777905chr11:70218321ENST00000402320-91453_95377.0705.0Coiled coilOntology_term=ECO:0000255
HgeneLARGEchr22:33777905chr11:70218321ENST00000337431-10151_10377.0705.0Topological domainCytoplasmic
HgeneLARGEchr22:33777905chr11:70218321ENST00000354992-10161_10377.0757.0Topological domainCytoplasmic
HgeneLARGEchr22:33777905chr11:70218321ENST00000397394-9151_10377.0757.0Topological domainCytoplasmic
HgeneLARGEchr22:33777905chr11:70218321ENST00000402320-9141_10377.0705.0Topological domainCytoplasmic
HgeneLARGEchr22:33777905chr11:70218321ENST00000337431-101511_31377.0705.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneLARGEchr22:33777905chr11:70218321ENST00000354992-101611_31377.0757.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneLARGEchr22:33777905chr11:70218321ENST00000397394-91511_31377.0757.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneLARGEchr22:33777905chr11:70218321ENST00000402320-91411_31377.0705.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgenePPFIA1chr22:33777905chr11:70218321ENST0000025392520281021_1050955.01597.3333333333333Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST0000038954720261021_1050955.01186.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST0000025392520281051_1120955.01597.3333333333333DomainSAM 3
TgenePPFIA1chr22:33777905chr11:70218321ENST000002539252028963_1027955.01597.3333333333333DomainSAM 2
TgenePPFIA1chr22:33777905chr11:70218321ENST0000038954720261051_1120955.01186.0DomainSAM 3
TgenePPFIA1chr22:33777905chr11:70218321ENST000003895472026963_1027955.01186.0DomainSAM 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLARGEchr22:33777905chr11:70218321ENST00000337431-1015138_413377.0705.0RegionXylosyltransferase activity
HgeneLARGEchr22:33777905chr11:70218321ENST00000337431-1015414_756377.0705.0RegionGlucuronyltransferase activity
HgeneLARGEchr22:33777905chr11:70218321ENST00000354992-1016138_413377.0757.0RegionXylosyltransferase activity
HgeneLARGEchr22:33777905chr11:70218321ENST00000354992-1016414_756377.0757.0RegionGlucuronyltransferase activity
HgeneLARGEchr22:33777905chr11:70218321ENST00000397394-915138_413377.0757.0RegionXylosyltransferase activity
HgeneLARGEchr22:33777905chr11:70218321ENST00000397394-915414_756377.0757.0RegionGlucuronyltransferase activity
HgeneLARGEchr22:33777905chr11:70218321ENST00000402320-914138_413377.0705.0RegionXylosyltransferase activity
HgeneLARGEchr22:33777905chr11:70218321ENST00000402320-914414_756377.0705.0RegionGlucuronyltransferase activity
HgeneLARGEchr22:33777905chr11:70218321ENST00000337431-101532_756377.0705.0Topological domainLumenal
HgeneLARGEchr22:33777905chr11:70218321ENST00000354992-101632_756377.0757.0Topological domainLumenal
HgeneLARGEchr22:33777905chr11:70218321ENST00000397394-91532_756377.0757.0Topological domainLumenal
HgeneLARGEchr22:33777905chr11:70218321ENST00000402320-91432_756377.0705.0Topological domainLumenal
TgenePPFIA1chr22:33777905chr11:70218321ENST000002539252028176_214955.01597.3333333333333Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST000002539252028249_521955.01597.3333333333333Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST00000253925202834_141955.01597.3333333333333Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST000002539252028623_669955.01597.3333333333333Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST000002539252028847_871955.01597.3333333333333Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST000003895472026176_214955.01186.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST000003895472026249_521955.01186.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST00000389547202634_141955.01186.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST000003895472026623_669955.01186.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST000003895472026847_871955.01186.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA1chr22:33777905chr11:70218321ENST00000253925202817_25955.01597.3333333333333Compositional biasNote=Poly-Gly
TgenePPFIA1chr22:33777905chr11:70218321ENST00000389547202617_25955.01186.0Compositional biasNote=Poly-Gly
TgenePPFIA1chr22:33777905chr11:70218321ENST000002539252028878_944955.01597.3333333333333DomainSAM 1
TgenePPFIA1chr22:33777905chr11:70218321ENST000003895472026878_944955.01186.0DomainSAM 1


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Fusion Gene Sequence for LARGE-PPFIA1


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.
>In-frame_ENST00000452586_ENST00000253925_ERR315413_LARGE_chr22_33777905_-_PPFIA1_chr11_70218321_length(transcript)=2779nt_BP=625nt
ATGAAAGGCAAATGACTTTTCAAACATTCTGCAGCTGGGATGACTTCTTTTTTTAATTTTTTAAAATATGTCAAGGTGATTTGTAATCCA
CAGCAAAATGTTAATATGGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTGACCAA
GACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTGTTCCA
CAAGTTCAAAGGTCAGCAAGTCCTGGGCTTGGTGGAGAACCAGAGTGACTGGTACCTTGGAAACCTGTGGAAAAATCACCGCCCATGGCC
AGCCCTTGGAAGAGGCTACAACACAGGGGTGATCCTGTTACTTCTGGATAAGCTGCGGAAGATGAAATGGGAGCAGATGTGGAGGCTGAC
CGCAGAGAGGGAGCTCATGGGCATGCTCTCTACATCCTTAGCTGACCAGGATATTTTCAATGCCGTCATCAAACAAAACCCCTTCCTTGT
GTACCAGCTCCCCTGCTTCTGGAATGTGCAGCTGTCAGACCACACCCGCTCCGAGCAGTGCTACAGAGACGTGTCTGATCTAAAGACACT
CGCCTATGGGGACATGAACCACGAGTGGATCGGCAACGAGTGGCTCCCCAGCCTGGGCCTCCCCCAGTACCGCAGCTACTTCATGGAGTG
CCTTGTAGACGCCAGGATGCTGGACCACTTGACCAAGAAAGACCTTCGAGGGCAGCTGAAAATGGTCGACAGTTTTCACAGAAACAGTTT
CCAGTGTGGAATTATGTGCCTGAGAAGGTTAAATTATGACCGGAAAGAACTGGAAAGAAAAAGAGAAGAAAGTCAGAGTGAAATAAAAGA
CGTGCTTGTTTGGAGCAATGATCGAGTGATTCGCTGGATCCTGTCAATTGGCCTTAAAGAATATGCAAACAATCTTATAGAGAGTGGTGT
TCACGGAGCACTTCTGGCCTTAGATGAAACCTTCGACTTCAGTGCACTGGCACTGCTGTTACAGATCCCGACGCAGAACACACAGGCTCG
TGCTGTCTTGGAAAGAGAATTTAACAACCTTTTGGTCATGGGGACTGATAGAAGGTTTGATGAAGATGATGATAAAAGCTTTAGGAGAGC
ACCTTCATGGAGAAAAAAGTTTAGACCAAAGGACATTCGTGGCTTAGCTGCTGGGTCAGCAGAGACTCTCCCTGCAAACTTCCGGGTGAC
TTCTTCTATGTCTTCCCCCTCTATGCAGCCAAAGAAGATGCAGATGGACGGCAATGTATCAGGAACACAGAGGTTGGATTCTGCTACAGT
CAGGACTTACTCCTGCTAAAGTCTCCTGTTGTTTACCCACACTACTTCTACAGATGATTATGCAGCATTTGAATCCAACAAAGACTACAT
TTTGGAATCCAGTGGAATCTTTAATCTTGTTAATACTTGTTATATGGACCCTAAGATATTTTATTACAGAGTTTTTAATTAGTGAAAAAT
TCATGAATACCATAGAGAAAATATTTTAGAATTTAATGTTTCTTATATTTATGTAAACTTATGACTCTTCATTTATATAGTTACTTACTT
TTTCATGTATATCCAGGCTATAAATATCCTTTCAAATCATGTTCTTATACCTAATTTTAGTCTTTCAAATGAATGTACTGTAATGCTTGT
ATGTATAAATCCTATGAATAGAGGGCTTTTGTAAATTATGCATTTATTGTAATTATCATTAATTTTTTAATGATAAACCATGACAAAGGA
TTTTACGTTTATAAAATTATGACAGAAGCCATGTGCATTATCCTTTACGGACGCAGCCTAGCTCTACAGCAATCATCCTGAAATAAGCAT
ACCTAATTTCAAGCAATTGTTGTATTTTCATGACTGACCTTAACTGTACTTTTTCTAGCAAGAGATGCTTTATTCTGCAGCATGAACAGA
TTTAAAATGGCTGGTGTTAAATATCAGCTCCTAATAAGATGTGGACTGAAAACACTATCACAACACTATGAGAAGCCCCTAGCACTGGTT
AACGCTTTCCTAGCCTAGTCTCTGGATTTGGGGAGCTTGTCTTCAGTGGCTGAGACTGTGAGCTGGGAGCAGTTCTCTCAGCTGGAGAGA
CTCGGGATGGGGTAACCTGGGGACCAGTCTAGCCCCTGCACCCTCTTCCCTGCCTCTGCTCCTTGGGAGCGGGTGGAGAGACACCCATGT
GGCTCCCCTTAGGGCCAGCACCAAGCACCACGCTCTCATCCTGCAAGTCGGCGCACACAGTGGATGAAGGCAGGAGACCCAGAAAGCAGT
GCAGTGCAGCTCTAATAAAGGCCTTATTTTTCTTATGTAAATCATCTTTTTACATTTGTTTGTAAACATGTTTAAAGAACGAACCTAGTG
GGACATTTTTAGACTTTGATGCTCTAGCCATTTTGGATTGTGTAAGTTGCAGATGTGGCTTTTACTTTTTAAATGGCATATTAACAAGCC
AGCAAAGTGTGTCAGACCATGGCGTGGTATTTATTGTGCAGCAGATCCAGAGACAGAGGCAGCCTGTCTTTTCAGTTGGTTTCTGCTTTT
AATTTACTTGTACAATTCATTGTTACTGTTCTGTTTTTCTATTAATCTTTTGTCAACTTCCTGATTATGTAACAAAGTATGTACAGTCTA

>In-frame_ENST00000452586_ENST00000253925_ERR315413_LARGE_chr22_33777905_-_PPFIA1_chr11_70218321_length(amino acids)=423AA_start in transcript=97_stop in transcript=1368
MLIWSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPAL
GRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKTLAY
GDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRGQLKMVDSFHRNSFQCGIMCLRRLNYDRKELERKREESQSEIKDVL
VWSNDRVIRWILSIGLKEYANNLIESGVHGALLALDETFDFSALALLLQIPTQNTQARAVLEREFNNLLVMGTDRRFDEDDDKSFRRAPS

--------------------------------------------------------------
>In-frame_ENST00000452586_ENST00000389547_ERR315413_LARGE_chr22_33777905_-_PPFIA1_chr11_70218321_length(transcript)=1695nt_BP=625nt
ATGAAAGGCAAATGACTTTTCAAACATTCTGCAGCTGGGATGACTTCTTTTTTTAATTTTTTAAAATATGTCAAGGTGATTTGTAATCCA
CAGCAAAATGTTAATATGGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTGACCAA
GACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTGTTCCA
CAAGTTCAAAGGTCAGCAAGTCCTGGGCTTGGTGGAGAACCAGAGTGACTGGTACCTTGGAAACCTGTGGAAAAATCACCGCCCATGGCC
AGCCCTTGGAAGAGGCTACAACACAGGGGTGATCCTGTTACTTCTGGATAAGCTGCGGAAGATGAAATGGGAGCAGATGTGGAGGCTGAC
CGCAGAGAGGGAGCTCATGGGCATGCTCTCTACATCCTTAGCTGACCAGGATATTTTCAATGCCGTCATCAAACAAAACCCCTTCCTTGT
GTACCAGCTCCCCTGCTTCTGGAATGTGCAGCTGTCAGACCACACCCGCTCCGAGCAGTGCTACAGAGACGTGTCTGATCTAAAGACACT
CGCCTATGGGGACATGAACCACGAGTGGATCGGCAACGAGTGGCTCCCCAGCCTGGGCCTCCCCCAGTACCGCAGCTACTTCATGGAGTG
CCTTGTAGACGCCAGGATGCTGGACCACTTGACCAAGAAAGACCTTCGAGGGCAGCTGAAAATGGTCGACAGTTTTCACAGAAACAGTTT
CCAGTGTGGAATTATGTGCCTGAGAAGGTTAAATTATGACCGGAAAGAACTGGAAAGAAAAAGAGAAGAAAGTCAGAGTGAAATAAAAGA
CGTGCTTGTTTGGAGCAATGATCGAGTGATTCGCTGGATCCTGTCAATTGGCCTTAAAGAATATGCAAACAATCTTATAGAGAGTGGTGT
TCACGGAGCACTTCTGGCCTTAGATGAAACCTTCGACTTCAGTGCACTGGCACTGCTGTTACAGATCCCGACGCAGAACACACAGGCTCG
TGCTGTCTTGGAAAGAGAATTTAACAACCTTTTGGTCATGGGGACTGATAGAAGGTTTGATGAAGATGATGATAAAAGCTTTAGGAGAGC
ACCTTCATGGAGAAAAAAGTTTAGACCAAAGGACATTCGTGGCTTAGCTGCTGGGTCAGCAGAGACTCTCCCTGCAAACTTCCGGGTGAC
TTCTTCTATGTCTTCCCCCTCTATGCAGCCAAAGAAGATGCAGATGGACGGTATGTGATGGGTCACACTAACCTGTCACTTGTTGGGAGC
ATGAGCAGCTTTCTGTCTGGAACATTAATAATGATCTAAAACGGCCTATTTAATATGTTACAAGGCACTTGAGTATGGTTGCATGTCCAA
ATATAAATGTTTTTAAATTAACTCTAACATTTGTTTATAAAAGTTTAACCATAATAATAGAATTTTTAAAACACGCTTGTCTGGTTGAAT
CTTAGCATATTTTTCCAACTAATAAAGCTCAGTATTCGTCTGTGTTCTCAGAGAGAGACTGAGGCATACTTGTAAATTTGTGTCTGTGAC

>In-frame_ENST00000452586_ENST00000389547_ERR315413_LARGE_chr22_33777905_-_PPFIA1_chr11_70218321_length(amino acids)=406AA_start in transcript=97_stop in transcript=1317
MLIWSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPAL
GRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKTLAY
GDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRGQLKMVDSFHRNSFQCGIMCLRRLNYDRKELERKREESQSEIKDVL
VWSNDRVIRWILSIGLKEYANNLIESGVHGALLALDETFDFSALALLLQIPTQNTQARAVLEREFNNLLVMGTDRRFDEDDDKSFRRAPS

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Fusion Gene PPI Analysis for LARGE-PPFIA1


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 LARGE-PPFIA1


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 LARGE-PPFIA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource