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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:PTPN6-PEX5 (FusionGDB2 ID:69854)

Fusion Gene Summary for PTPN6-PEX5

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPN6-PEX5
Fusion gene ID: 69854
HgeneTgene
Gene symbol

PTPN6

PEX5

Gene ID

5777

5830

Gene nameprotein tyrosine phosphatase non-receptor type 6peroxisomal biogenesis factor 5
SynonymsHCP|HCPH|HPTP1C|PTP-1C|SH-PTP1|SHP-1|SHP-1L|SHP1PBD2A|PBD2B|PTS1-BP|PTS1R|PXR1|RCDP5
Cytomap

12p13.31

12p13.31

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein phosphatase non-receptor type 6hematopoietic cell phosphatasehematopoietic cell protein-tyrosine phosphataseprotein-tyrosine phosphatase 1Cprotein-tyrosine phosphatase SHP-1peroxisomal biogenesis factor 5PTS1 receptorperoxin-5peroxisomal C-terminal targeting signal import receptorperoxisomal import receptor 5peroxisomal targeting signal 1 (SKL type) receptorperoxisomal targeting signal 1 receptorperoxisomal targeting
Modification date2020032020200313
UniProtAcc.

PEX5L

Ensembl transtripts involved in fusion geneENST00000399448, ENST00000447931, 
ENST00000318974, ENST00000456013, 
ENST00000539029, 		ENST00000455147, 
ENST00000266563, ENST00000545220, 
ENST00000434354, ENST00000420616, 
ENST00000412720, ENST00000266564, 
Fusion gene scores* DoF score5 X 5 X 4=1007 X 7 X 6=294
# samples 67
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/294*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTPN6 [Title/Abstract] AND PEX5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPTPN6(7055902)-PEX5(7354346), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgenePTPN6

GO:0006470

protein dephosphorylation

11266449

HgenePTPN6

GO:0018108

peptidyl-tyrosine phosphorylation

9285411|18802077

HgenePTPN6

GO:0030154

cell differentiation

11266449

HgenePTPN6

GO:0070372

regulation of ERK1 and ERK2 cascade

11266449

TgenePEX5

GO:0016560

protein import into peroxisome matrix, docking

21976670

TgenePEX5

GO:0031333

negative regulation of protein complex assembly

21976670


check buttonFusion gene breakpoints across PTPN6 (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 PEX5 (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-Cancer123NdPTPN6chr12

7055902

+PEX5chr12

7354346

+


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Fusion Gene ORF analysis for PTPN6-PEX5

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
In-frameENST00000399448ENST00000455147PTPN6chr12

7055902

+PEX5chr12

7354346

+
In-frameENST00000399448ENST00000266563PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000399448ENST00000545220PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000399448ENST00000434354PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000399448ENST00000420616PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000399448ENST00000412720PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000399448ENST00000266564PTPN6chr12

7055902

+PEX5chr12

7354346

+
In-frameENST00000447931ENST00000455147PTPN6chr12

7055902

+PEX5chr12

7354346

+
In-frameENST00000447931ENST00000266563PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000447931ENST00000545220PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000447931ENST00000434354PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000447931ENST00000420616PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000447931ENST00000412720PTPN6chr12

7055902

+PEX5chr12

7354346

+
5CDS-3UTRENST00000447931ENST00000266564PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3CDSENST00000318974ENST00000455147PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3CDSENST00000318974ENST00000266563PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000318974ENST00000545220PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000318974ENST00000434354PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000318974ENST00000420616PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000318974ENST00000412720PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000318974ENST00000266564PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3CDSENST00000456013ENST00000455147PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3CDSENST00000456013ENST00000266563PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000456013ENST00000545220PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000456013ENST00000434354PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000456013ENST00000420616PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000456013ENST00000412720PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000456013ENST00000266564PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3CDSENST00000539029ENST00000455147PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3CDSENST00000539029ENST00000266563PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000539029ENST00000545220PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000539029ENST00000434354PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000539029ENST00000420616PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000539029ENST00000412720PTPN6chr12

7055902

+PEX5chr12

7354346

+
intron-3UTRENST00000539029ENST00000266564PTPN6chr12

7055902

+PEX5chr12

7354346

+

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)
ENST00000399448PTPN6chr127055902+ENST00000455147PEX5chr127354346+1721163411531496
ENST00000399448PTPN6chr127055902+ENST00000266563PEX5chr127354346+2681163411420459
ENST00000447931PTPN6chr127055902+ENST00000455147PEX5chr127354346+168813081498496
ENST00000447931PTPN6chr127055902+ENST00000266563PEX5chr127354346+264813081387459

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
ENST00000399448ENST00000455147PTPN6chr127055902+PEX5chr127354346+0.0071000850.9928999
ENST00000399448ENST00000266563PTPN6chr127055902+PEX5chr127354346+0.0015323030.9984676
ENST00000447931ENST00000455147PTPN6chr127055902+PEX5chr127354346+0.0070170830.99298286
ENST00000447931ENST00000266563PTPN6chr127055902+PEX5chr127354346+0.0013806410.9986193

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Fusion Genomic Features for PTPN6-PEX5


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)
PTPN6chr127055902+PEX5chr127354346+0.0093538570.9906461
PTPN6chr127055902+PEX5chr127354346+0.0093538570.9906461

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 PTPN6-PEX5


check button Go to

FGviewer for the breakpoints of chr12:7055902-chr12:7354346

.
- 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
.PEX5

PEX5L

FUNCTION: 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.626

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
TgenePEX5chr12:7055902chr12:7354346ENST00000266563515335_368183.66666666666666603.0RepeatNote=TPR 1
TgenePEX5chr12:7055902chr12:7354346ENST00000266563515369_402183.66666666666666603.0RepeatNote=TPR 2
TgenePEX5chr12:7055902chr12:7354346ENST00000266563515403_436183.66666666666666603.0RepeatNote=TPR 3
TgenePEX5chr12:7055902chr12:7354346ENST00000266563515452_485183.66666666666666603.0RepeatNote=TPR 4
TgenePEX5chr12:7055902chr12:7354346ENST00000266563515488_521183.66666666666666603.0RepeatNote=TPR 5
TgenePEX5chr12:7055902chr12:7354346ENST00000266563515522_555183.66666666666666603.0RepeatNote=TPR 6
TgenePEX5chr12:7055902chr12:7354346ENST00000266563515556_589183.66666666666666603.0RepeatNote=TPR 7
TgenePEX5chr12:7055902chr12:7354346ENST00000266564415335_368183.66666666666666632.0RepeatNote=TPR 1
TgenePEX5chr12:7055902chr12:7354346ENST00000266564415369_402183.66666666666666632.0RepeatNote=TPR 2
TgenePEX5chr12:7055902chr12:7354346ENST00000266564415403_436183.66666666666666632.0RepeatNote=TPR 3
TgenePEX5chr12:7055902chr12:7354346ENST00000266564415452_485183.66666666666666632.0RepeatNote=TPR 4
TgenePEX5chr12:7055902chr12:7354346ENST00000266564415488_521183.66666666666666632.0RepeatNote=TPR 5
TgenePEX5chr12:7055902chr12:7354346ENST00000266564415522_555183.66666666666666632.0RepeatNote=TPR 6
TgenePEX5chr12:7055902chr12:7354346ENST00000266564415556_589183.66666666666666632.0RepeatNote=TPR 7
TgenePEX5chr12:7055902chr12:7354346ENST00000420616516335_368183.66666666666666640.0RepeatNote=TPR 1
TgenePEX5chr12:7055902chr12:7354346ENST00000420616516369_402183.66666666666666640.0RepeatNote=TPR 2
TgenePEX5chr12:7055902chr12:7354346ENST00000420616516403_436183.66666666666666640.0RepeatNote=TPR 3
TgenePEX5chr12:7055902chr12:7354346ENST00000420616516452_485183.66666666666666640.0RepeatNote=TPR 4
TgenePEX5chr12:7055902chr12:7354346ENST00000420616516488_521183.66666666666666640.0RepeatNote=TPR 5
TgenePEX5chr12:7055902chr12:7354346ENST00000420616516522_555183.66666666666666640.0RepeatNote=TPR 6
TgenePEX5chr12:7055902chr12:7354346ENST00000420616516556_589183.66666666666666640.0RepeatNote=TPR 7
TgenePEX5chr12:7055902chr12:7354346ENST00000434354516335_368198.66666666666666655.0RepeatNote=TPR 1
TgenePEX5chr12:7055902chr12:7354346ENST00000434354516369_402198.66666666666666655.0RepeatNote=TPR 2
TgenePEX5chr12:7055902chr12:7354346ENST00000434354516403_436198.66666666666666655.0RepeatNote=TPR 3
TgenePEX5chr12:7055902chr12:7354346ENST00000434354516452_485198.66666666666666655.0RepeatNote=TPR 4
TgenePEX5chr12:7055902chr12:7354346ENST00000434354516488_521198.66666666666666655.0RepeatNote=TPR 5
TgenePEX5chr12:7055902chr12:7354346ENST00000434354516522_555198.66666666666666655.0RepeatNote=TPR 6
TgenePEX5chr12:7055902chr12:7354346ENST00000434354516556_589198.66666666666666655.0RepeatNote=TPR 7
TgenePEX5chr12:7055902chr12:7354346ENST00000455147618335_368183.66666666666666573.6666666666666RepeatNote=TPR 1
TgenePEX5chr12:7055902chr12:7354346ENST00000455147618369_402183.66666666666666573.6666666666666RepeatNote=TPR 2
TgenePEX5chr12:7055902chr12:7354346ENST00000455147618403_436183.66666666666666573.6666666666666RepeatNote=TPR 3
TgenePEX5chr12:7055902chr12:7354346ENST00000455147618452_485183.66666666666666573.6666666666666RepeatNote=TPR 4
TgenePEX5chr12:7055902chr12:7354346ENST00000455147618488_521183.66666666666666573.6666666666666RepeatNote=TPR 5
TgenePEX5chr12:7055902chr12:7354346ENST00000455147618522_555183.66666666666666573.6666666666666RepeatNote=TPR 6
TgenePEX5chr12:7055902chr12:7354346ENST00000455147618556_589183.66666666666666573.6666666666666RepeatNote=TPR 7

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePTPN6chr12:7055902chr12:7354346ENST00000318974+116110_2130574.6666666666666DomainSH2 2
HgenePTPN6chr12:7055902chr12:7354346ENST00000318974+116244_5150574.6666666666666DomainTyrosine-protein phosphatase
HgenePTPN6chr12:7055902chr12:7354346ENST00000318974+1164_1000574.6666666666666DomainSH2 1
HgenePTPN6chr12:7055902chr12:7354346ENST00000399448+116110_2134.666666666666667607.3333333333334DomainSH2 2
HgenePTPN6chr12:7055902chr12:7354346ENST00000399448+116244_5154.666666666666667607.3333333333334DomainTyrosine-protein phosphatase
HgenePTPN6chr12:7055902chr12:7354346ENST00000399448+1164_1004.666666666666667607.3333333333334DomainSH2 1
HgenePTPN6chr12:7055902chr12:7354346ENST00000447931+115110_2134.666666666666667566.6666666666666DomainSH2 2
HgenePTPN6chr12:7055902chr12:7354346ENST00000447931+115244_5154.666666666666667566.6666666666666DomainTyrosine-protein phosphatase
HgenePTPN6chr12:7055902chr12:7354346ENST00000447931+1154_1004.666666666666667566.6666666666666DomainSH2 1
HgenePTPN6chr12:7055902chr12:7354346ENST00000456013+116110_2130605.3333333333334DomainSH2 2
HgenePTPN6chr12:7055902chr12:7354346ENST00000456013+116244_5150605.3333333333334DomainTyrosine-protein phosphatase
HgenePTPN6chr12:7055902chr12:7354346ENST00000456013+1164_1000605.3333333333334DomainSH2 1
HgenePTPN6chr12:7055902chr12:7354346ENST00000318974+116453_4590574.6666666666666RegionSubstrate binding
HgenePTPN6chr12:7055902chr12:7354346ENST00000399448+116453_4594.666666666666667607.3333333333334RegionSubstrate binding
HgenePTPN6chr12:7055902chr12:7354346ENST00000447931+115453_4594.666666666666667566.6666666666666RegionSubstrate binding
HgenePTPN6chr12:7055902chr12:7354346ENST00000456013+116453_4590605.3333333333334RegionSubstrate binding


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Fusion Gene Sequence for PTPN6-PEX5


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_ENST00000399448_ENST00000455147_123Nd_PTPN6_chr12_7055902_+_PEX5_chr12_7354346_length(transcript)=1721nt_BP=163nt
ATTGGCCTGGCAGGCAGGATCGAGGAGGAAGTGGCTGATTACTGAGCGGTTCTTCCTCACCTGGCTTGGGCCACTGTGCACAGCTGTGCC
GCTGGCTCAGCCCCGCCCCCTGCGGCCCTCTGCCGTGGCTTCCCCCTCCCTACAGAGAGATGCTGTCCCGTGGGTATGATGAATATCATC
CTGAGGAGGATCTGCAGCACACGGCCAGTGACTTTGTGGCCAAAGTGGATGACCCCAAATTGGCTAATTCTGAGTTCCTGAAATTCGTGC
GGCAGATTGGCGAAGGGCAGGTGTCCCTGGAGTCCGGTGCAGGGTCGGGCCGAGCTCAGGCAGAACAGTGGGCAGCAGAGTTTATACAGC
AGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAG
CTATAGAGTCTGATGTCGATTTCTGGGACAAGTTGCAGGCAGAGTTGGAGGAGATGGCAAAACGGGATGCTGAGGCCCACCCCTGGCTTT
CTGACTATGATGACCTTACGTCAGCTACCTATGATAAGGGGTACCAGTTTGAGGAGGAGAACCCCTTGCGTGATCACCCTCAGCCTTTTG
AAGAAGGGCTGCGGCGCCTTCAGGAGGGGGACCTGCCAAATGCTGTGCTGCTTTTTGAGGCAGCTGTGCAGCAGGATCCTAAGCACATGG
AAGCTTGGCAGTATCTGGGTACCACCCAGGCAGAGAATGAACAAGAACTATTAGCCATCAGTGCATTGCGGAGGTGTCTGGAGCTAAAGC
CAGATAACCAGACAGCACTGATGGCGCTGGCTGTGAGCTTCACCAACGAGTCCCTGCAGCGACAGGCCTGTGAAACCCTACGAGACTGGC
TGCGGTACACACCAGCCTATGCCCATCTGGTGACACCTGCTGAAGAAGGGGCTGGTGGGGCAGGACTGGGCCCCAGCAAGCGTATCCTGG
GATCTCTCTTGTCTGACTCCCTGTTTCTTGAAGTGAAAGAGCTCTTCCTGGCAGCTGTGCGGCTGGACCCTACCTCCATTGACCCTGATG
TGCAGTGTGGCTTGGGAGTCCTTTTCAACCTGAGTGGGGAGTATGACAAGGCCGTGGACTGCTTCACAGCTGCCCTCAGCGTTCGTCCCA
ATGACTATTTGCTGTGGAATAAGCTAGGCGCCACCCTGGCCAATGGAAACCAGAGTGAAGAAGCAGTAGCTGCGTACCGCCGGGCCCTCG
AGCTCCAGCCTGGCTATATCCGGTCCCGCTATAACCTGGGCATCAGCTGCATCAACCTCGGGGCTCACCGGGAGGCTGTGGAGCACTTTC
TGGAGGCCCTGAACATGCAGAGGAAAAGCCGGGGCCCCCGGGGTGAAGGAGGTGCCATGTCGGAGAACATCTGGAGCACCCTGCGTTTGG
CATTGTCTATGTTAGGCCAGAGCGATGCCTATGGGGCAGCCGACGCGCGGGATCTGTCCACCCTCCTAACTATGTTTGGCCTGCCCCAGT
GACAGTGGGACGGGCTGCCCTAAATATACAGCCTCTGCAGACACTGCTTCTGAATGAACGGGCTGGAGTTTCCTTGGGATCCTGAACTCA
TATTGGATTCTCTACCTACCATCTTGGACAATTCATGTAGGAAAACAAATCCTCATTTGTTCAAACAATAGATGAAAATTATTAAAGTTT

>In-frame_ENST00000399448_ENST00000455147_123Nd_PTPN6_chr12_7055902_+_PEX5_chr12_7354346_length(amino acids)=496AA_start in transcript=41_stop in transcript=1531
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKFVRQIGEGQVSLESGA
GSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIESDVDFWDKLQAELEEMAKRDAEAHPWLSDYDDLTSATYDKG
YQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSF
TNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGE
YDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPR

--------------------------------------------------------------
>In-frame_ENST00000399448_ENST00000266563_123Nd_PTPN6_chr12_7055902_+_PEX5_chr12_7354346_length(transcript)=2681nt_BP=163nt
ATTGGCCTGGCAGGCAGGATCGAGGAGGAAGTGGCTGATTACTGAGCGGTTCTTCCTCACCTGGCTTGGGCCACTGTGCACAGCTGTGCC
GCTGGCTCAGCCCCGCCCCCTGCGGCCCTCTGCCGTGGCTTCCCCCTCCCTACAGAGAGATGCTGTCCCGTGGGTATGATGAATATCATC
CTGAGGAGGATCTGCAGCACACGGCCAGTGACTTTGTGGCCAAAGTGGATGACCCCAAATTGGCTAATTCTGAGGGTACATCAGATGCCT
GGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGTCTGATGTCGATT
TCTGGGACAAGTTGCAGGCAGAGTTGGAGGAGATGGCAAAACGGGATGCTGAGGCCCACCCCTGGCTTTCTGACTATGATGACCTTACGT
CAGCTACCTATGATAAGGGGTACCAGTTTGAGGAGGAGAACCCCTTGCGTGATCACCCTCAGCCTTTTGAAGAAGGGCTGCGGCGCCTTC
AGGAGGGGGACCTGCCAAATGCTGTGCTGCTTTTTGAGGCAGCTGTGCAGCAGGATCCTAAGCACATGGAAGCTTGGCAGTATCTGGGTA
CCACCCAGGCAGAGAATGAACAAGAACTATTAGCCATCAGTGCATTGCGGAGGTGTCTGGAGCTAAAGCCAGATAACCAGACAGCACTGA
TGGCGCTGGCTGTGAGCTTCACCAACGAGTCCCTGCAGCGACAGGCCTGTGAAACCCTACGAGACTGGCTGCGGTACACACCAGCCTATG
CCCATCTGGTGACACCTGCTGAAGAAGGGGCTGGTGGGGCAGGACTGGGCCCCAGCAAGCGTATCCTGGGATCTCTCTTGTCTGACTCCC
TGTTTCTTGAAGTGAAAGAGCTCTTCCTGGCAGCTGTGCGGCTGGACCCTACCTCCATTGACCCTGATGTGCAGTGTGGCTTGGGAGTCC
TTTTCAACCTGAGTGGGGAGTATGACAAGGCCGTGGACTGCTTCACAGCTGCCCTCAGCGTTCGTCCCAATGACTATTTGCTGTGGAATA
AGCTAGGCGCCACCCTGGCCAATGGAAACCAGAGTGAAGAAGCAGTAGCTGCGTACCGCCGGGCCCTCGAGCTCCAGCCTGGCTATATCC
GGTCCCGCTATAACCTGGGCATCAGCTGCATCAACCTCGGGGCTCACCGGGAGGCTGTGGAGCACTTTCTGGAGGCCCTGAACATGCAGA
GGAAAAGCCGGGGCCCCCGGGGTGAAGGAGGTGCCATGTCGGAGAACATCTGGAGCACCCTGCGTTTGGCATTGTCTATGTTAGGCCAGA
GCGATGCCTATGGGGCAGCCGACGCGCGGGATCTGTCCACCCTCCTAACTATGTTTGGCCTGCCCCAGTGACAGTGGGACGGGCTGCCCT
GTGAGTGTCCACCTGGAGGGATCCCCGCTTTGGATGTGATTCCCTCTCCCCAAATGGGCCTACCAAGGGGGCGGGCTGATGACCATAAGC
GGTACGGCCTTTCAGGAGCTGCCTCAACGTAGGGGTGGGTAGTCTGTGTTCTAGTTCCTACATAATTGTAGGAAAATGAGCTGTGTCATC
TCTGAGTCCCTTGGTAATTCAAGGGCTGTACATCCAGCTACAGATCTCTCTGCTCATCATGCCCTTTCTTGGTGCTGCTTTTTGGGTAGG
ACCCCACGATTTAGGGTAACTGTTATCATCAGCTGCCATTTCTGATAGGGTCTACCACATCTGTAATGTCTGTCCTTTCCCCCACTTTTA
CTGGGAATTGATAGTCCAGCTTCCTTGGGCAGTGTAAGTAGGAGGTTCATCTGCTGTGCGCCTCTAATGTCTGTCTGGATGGGATGTGTT
AGGAGTTGGCCTGTTGGGTTGAATTGTTGATTTGGCTGAGCAGAGCTGAGTTTTGGTAGGAGTGCTCATGGTTCTGTCATTCTTGGACCT
CTCCTGGCTGAGCTCTGATTCCCTGTGAGCACGATGCTGATGCAATAGTCCTGTGTCATCACTGCAGCGGTCCTCAGGAGCTGCCAGGGC
CAATTGCTACAGAGTGTCTGGGTGTGTGGCATAGGAGGAAGGTTTGCTTGTGAAATGAGGCTGGGTGGGAGCGGGGAGGGACTAGATCAG
AAGAGATCAAGGGCTCTATTCAGGAACGTTGGTGGGAGGACAGAGCAAGTGGGAAGGGGGTATGGTGAGTGCGGCAATCCCTCATCCTCT
TAGAAGCACCTGTGAATGGGAATTGAGCCAACTGTTATAGAAAATTGGTTCAGAAAGTGCAATCTTGCCAGATTTCTAGCAAATAGGTTC
AGTGTTACCATAAGCCTTTGCTGTACTTCTTGAAATGTTTCTAGGGGAGAGCATTGGAAAATCCCCTTCCCCCATCTAGATCGAAGGAAG
ATGAGGGAGCAGCTTGGATTCTTCTCAGTTGTCCCCTGCATGGGGAGATACACTAACCCCCAGAAATGACTGCTAAGCCTCTTGCCTTGT
CTTTAGTAGCTAATGATCAGAGAGATTTTTTTTTTAAACTACCATGGTCCCAGGATTCCATCCTGAAATTTATTTTTCTTTGTATGAATA

>In-frame_ENST00000399448_ENST00000266563_123Nd_PTPN6_chr12_7055902_+_PEX5_chr12_7354346_length(amino acids)=459AA_start in transcript=41_stop in transcript=1420
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGYDEYHPEEDLQHTASDFVAKVDDPKLANSEGTSDAWVDQFTRPVNTSAL
DMEFERAKSAIESDVDFWDKLQAELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEA
AVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGA
GLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEE
AVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIWSTLRLALSMLGQSDAYGAADARDLST

--------------------------------------------------------------
>In-frame_ENST00000447931_ENST00000455147_123Nd_PTPN6_chr12_7055902_+_PEX5_chr12_7354346_length(transcript)=1688nt_BP=130nt
GCTGATTACTGAGCGGTTCTTCCTCACCTGGCTTGGGCCACTGTGCACAGCTGTGCCGCTGGCTCAGCCCCGCCCCCTGCGGCCCTCTGC
CGTGGCTTCCCCCTCCCTACAGAGAGATGCTGTCCCGTGGGTATGATGAATATCATCCTGAGGAGGATCTGCAGCACACGGCCAGTGACT
TTGTGGCCAAAGTGGATGACCCCAAATTGGCTAATTCTGAGTTCCTGAAATTCGTGCGGCAGATTGGCGAAGGGCAGGTGTCCCTGGAGT
CCGGTGCAGGGTCGGGCCGAGCTCAGGCAGAACAGTGGGCAGCAGAGTTTATACAGCAGCAGGGTACATCAGATGCCTGGGTTGACCAGT
TCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGTCTGATGTCGATTTCTGGGACAAGT
TGCAGGCAGAGTTGGAGGAGATGGCAAAACGGGATGCTGAGGCCCACCCCTGGCTTTCTGACTATGATGACCTTACGTCAGCTACCTATG
ATAAGGGGTACCAGTTTGAGGAGGAGAACCCCTTGCGTGATCACCCTCAGCCTTTTGAAGAAGGGCTGCGGCGCCTTCAGGAGGGGGACC
TGCCAAATGCTGTGCTGCTTTTTGAGGCAGCTGTGCAGCAGGATCCTAAGCACATGGAAGCTTGGCAGTATCTGGGTACCACCCAGGCAG
AGAATGAACAAGAACTATTAGCCATCAGTGCATTGCGGAGGTGTCTGGAGCTAAAGCCAGATAACCAGACAGCACTGATGGCGCTGGCTG
TGAGCTTCACCAACGAGTCCCTGCAGCGACAGGCCTGTGAAACCCTACGAGACTGGCTGCGGTACACACCAGCCTATGCCCATCTGGTGA
CACCTGCTGAAGAAGGGGCTGGTGGGGCAGGACTGGGCCCCAGCAAGCGTATCCTGGGATCTCTCTTGTCTGACTCCCTGTTTCTTGAAG
TGAAAGAGCTCTTCCTGGCAGCTGTGCGGCTGGACCCTACCTCCATTGACCCTGATGTGCAGTGTGGCTTGGGAGTCCTTTTCAACCTGA
GTGGGGAGTATGACAAGGCCGTGGACTGCTTCACAGCTGCCCTCAGCGTTCGTCCCAATGACTATTTGCTGTGGAATAAGCTAGGCGCCA
CCCTGGCCAATGGAAACCAGAGTGAAGAAGCAGTAGCTGCGTACCGCCGGGCCCTCGAGCTCCAGCCTGGCTATATCCGGTCCCGCTATA
ACCTGGGCATCAGCTGCATCAACCTCGGGGCTCACCGGGAGGCTGTGGAGCACTTTCTGGAGGCCCTGAACATGCAGAGGAAAAGCCGGG
GCCCCCGGGGTGAAGGAGGTGCCATGTCGGAGAACATCTGGAGCACCCTGCGTTTGGCATTGTCTATGTTAGGCCAGAGCGATGCCTATG
GGGCAGCCGACGCGCGGGATCTGTCCACCCTCCTAACTATGTTTGGCCTGCCCCAGTGACAGTGGGACGGGCTGCCCTAAATATACAGCC
TCTGCAGACACTGCTTCTGAATGAACGGGCTGGAGTTTCCTTGGGATCCTGAACTCATATTGGATTCTCTACCTACCATCTTGGACAATT

>In-frame_ENST00000447931_ENST00000455147_123Nd_PTPN6_chr12_7055902_+_PEX5_chr12_7354346_length(amino acids)=496AA_start in transcript=8_stop in transcript=1498
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKFVRQIGEGQVSLESGA
GSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIESDVDFWDKLQAELEEMAKRDAEAHPWLSDYDDLTSATYDKG
YQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSF
TNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGE
YDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPR

--------------------------------------------------------------
>In-frame_ENST00000447931_ENST00000266563_123Nd_PTPN6_chr12_7055902_+_PEX5_chr12_7354346_length(transcript)=2648nt_BP=130nt
GCTGATTACTGAGCGGTTCTTCCTCACCTGGCTTGGGCCACTGTGCACAGCTGTGCCGCTGGCTCAGCCCCGCCCCCTGCGGCCCTCTGC
CGTGGCTTCCCCCTCCCTACAGAGAGATGCTGTCCCGTGGGTATGATGAATATCATCCTGAGGAGGATCTGCAGCACACGGCCAGTGACT
TTGTGGCCAAAGTGGATGACCCCAAATTGGCTAATTCTGAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACAT
CTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGTCTGATGTCGATTTCTGGGACAAGTTGCAGGCAGAGTTGGAGGAGA
TGGCAAAACGGGATGCTGAGGCCCACCCCTGGCTTTCTGACTATGATGACCTTACGTCAGCTACCTATGATAAGGGGTACCAGTTTGAGG
AGGAGAACCCCTTGCGTGATCACCCTCAGCCTTTTGAAGAAGGGCTGCGGCGCCTTCAGGAGGGGGACCTGCCAAATGCTGTGCTGCTTT
TTGAGGCAGCTGTGCAGCAGGATCCTAAGCACATGGAAGCTTGGCAGTATCTGGGTACCACCCAGGCAGAGAATGAACAAGAACTATTAG
CCATCAGTGCATTGCGGAGGTGTCTGGAGCTAAAGCCAGATAACCAGACAGCACTGATGGCGCTGGCTGTGAGCTTCACCAACGAGTCCC
TGCAGCGACAGGCCTGTGAAACCCTACGAGACTGGCTGCGGTACACACCAGCCTATGCCCATCTGGTGACACCTGCTGAAGAAGGGGCTG
GTGGGGCAGGACTGGGCCCCAGCAAGCGTATCCTGGGATCTCTCTTGTCTGACTCCCTGTTTCTTGAAGTGAAAGAGCTCTTCCTGGCAG
CTGTGCGGCTGGACCCTACCTCCATTGACCCTGATGTGCAGTGTGGCTTGGGAGTCCTTTTCAACCTGAGTGGGGAGTATGACAAGGCCG
TGGACTGCTTCACAGCTGCCCTCAGCGTTCGTCCCAATGACTATTTGCTGTGGAATAAGCTAGGCGCCACCCTGGCCAATGGAAACCAGA
GTGAAGAAGCAGTAGCTGCGTACCGCCGGGCCCTCGAGCTCCAGCCTGGCTATATCCGGTCCCGCTATAACCTGGGCATCAGCTGCATCA
ACCTCGGGGCTCACCGGGAGGCTGTGGAGCACTTTCTGGAGGCCCTGAACATGCAGAGGAAAAGCCGGGGCCCCCGGGGTGAAGGAGGTG
CCATGTCGGAGAACATCTGGAGCACCCTGCGTTTGGCATTGTCTATGTTAGGCCAGAGCGATGCCTATGGGGCAGCCGACGCGCGGGATC
TGTCCACCCTCCTAACTATGTTTGGCCTGCCCCAGTGACAGTGGGACGGGCTGCCCTGTGAGTGTCCACCTGGAGGGATCCCCGCTTTGG
ATGTGATTCCCTCTCCCCAAATGGGCCTACCAAGGGGGCGGGCTGATGACCATAAGCGGTACGGCCTTTCAGGAGCTGCCTCAACGTAGG
GGTGGGTAGTCTGTGTTCTAGTTCCTACATAATTGTAGGAAAATGAGCTGTGTCATCTCTGAGTCCCTTGGTAATTCAAGGGCTGTACAT
CCAGCTACAGATCTCTCTGCTCATCATGCCCTTTCTTGGTGCTGCTTTTTGGGTAGGACCCCACGATTTAGGGTAACTGTTATCATCAGC
TGCCATTTCTGATAGGGTCTACCACATCTGTAATGTCTGTCCTTTCCCCCACTTTTACTGGGAATTGATAGTCCAGCTTCCTTGGGCAGT
GTAAGTAGGAGGTTCATCTGCTGTGCGCCTCTAATGTCTGTCTGGATGGGATGTGTTAGGAGTTGGCCTGTTGGGTTGAATTGTTGATTT
GGCTGAGCAGAGCTGAGTTTTGGTAGGAGTGCTCATGGTTCTGTCATTCTTGGACCTCTCCTGGCTGAGCTCTGATTCCCTGTGAGCACG
ATGCTGATGCAATAGTCCTGTGTCATCACTGCAGCGGTCCTCAGGAGCTGCCAGGGCCAATTGCTACAGAGTGTCTGGGTGTGTGGCATA
GGAGGAAGGTTTGCTTGTGAAATGAGGCTGGGTGGGAGCGGGGAGGGACTAGATCAGAAGAGATCAAGGGCTCTATTCAGGAACGTTGGT
GGGAGGACAGAGCAAGTGGGAAGGGGGTATGGTGAGTGCGGCAATCCCTCATCCTCTTAGAAGCACCTGTGAATGGGAATTGAGCCAACT
GTTATAGAAAATTGGTTCAGAAAGTGCAATCTTGCCAGATTTCTAGCAAATAGGTTCAGTGTTACCATAAGCCTTTGCTGTACTTCTTGA
AATGTTTCTAGGGGAGAGCATTGGAAAATCCCCTTCCCCCATCTAGATCGAAGGAAGATGAGGGAGCAGCTTGGATTCTTCTCAGTTGTC
CCCTGCATGGGGAGATACACTAACCCCCAGAAATGACTGCTAAGCCTCTTGCCTTGTCTTTAGTAGCTAATGATCAGAGAGATTTTTTTT
TTAAACTACCATGGTCCCAGGATTCCATCCTGAAATTTATTTTTCTTTGTATGAATATGTGTAAATGATTTAAAAATAAAACTGTAAAAT

>In-frame_ENST00000447931_ENST00000266563_123Nd_PTPN6_chr12_7055902_+_PEX5_chr12_7354346_length(amino acids)=459AA_start in transcript=8_stop in transcript=1387
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGYDEYHPEEDLQHTASDFVAKVDDPKLANSEGTSDAWVDQFTRPVNTSAL
DMEFERAKSAIESDVDFWDKLQAELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEA
AVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGA
GLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEE
AVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIWSTLRLALSMLGQSDAYGAADARDLST

--------------------------------------------------------------

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Fusion Gene PPI Analysis for PTPN6-PEX5


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 PTPN6-PEX5


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 PTPN6-PEX5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTPN6C0006663Calcinosis1CTD_human
HgenePTPN6C0018824Heart valve disease1CTD_human
HgenePTPN6C0035228Respiratory Hypersensitivity1CTD_human
HgenePTPN6C0036341Schizophrenia1PSYGENET
HgenePTPN6C0263628Tumoral calcinosis1CTD_human
HgenePTPN6C0521174Microcalcification1CTD_human
TgenePEX5C3550234PEROXISOME BIOGENESIS DISORDER 2B6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePEX5C3550273PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)5CTD_human;GENOMICS_ENGLAND
TgenePEX5C4225237RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 52CTD_human;GENOMICS_ENGLAND;ORPHANET
TgenePEX5C1832200Peroxisome biogenesis disorders1GENOMICS_ENGLAND
TgenePEX5C3550693PEROXISOME BIOGENESIS DISORDER 3B1GENOMICS_ENGLAND
TgenePEX5C4721541PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)1GENOMICS_ENGLAND