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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:PITRM1-PAFAH1B3 (FusionGDB2 ID:65218)

Fusion Gene Summary for PITRM1-PAFAH1B3

check button Fusion gene summary
Fusion gene informationFusion gene name: PITRM1-PAFAH1B3
Fusion gene ID: 65218
HgeneTgene
Gene symbol

PITRM1

PAFAH1B3

Gene ID

10531

5050

Gene namepitrilysin metallopeptidase 1platelet activating factor acetylhydrolase 1b catalytic subunit 3
SynonymsMP1|PrePPAFAHG
Cytomap

10p15.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionpresequence protease, mitochondrialPreP peptidasomemetalloprotease 1 (pitrilysin family)pitrilysin metalloproteinase 1platelet-activating factor acetylhydrolase IB subunit gammaPAF acetylhydrolase 29 kDa subunitPAF-AH 29 kDa subunitPAF-AH subunit gammaPAF-AH1b alpha 1 subunitPAFAH subunit gammaepididymis secretory sperm binding proteinplatelet-activating factor ac
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000464395, ENST00000224949, 
ENST00000380989, ENST00000380994, 
ENST00000451104, 
ENST00000262890, 
ENST00000538771, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 2 X 1=6
# samples 53
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/6*10)=2.32192809488736
Context

PubMed: PITRM1 [Title/Abstract] AND PAFAH1B3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPITRM1(3201105)-PAFAH1B3(42801517), # samples:1
Anticipated loss of major functional domain due to fusion event.PITRM1-PAFAH1B3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PITRM1-PAFAH1B3 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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
HgenePITRM1

GO:0006508

proteolysis

10360838|19196155


check buttonFusion gene breakpoints across PITRM1 (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 PAFAH1B3 (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
ChimerDB4OVTCGA-25-1625PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-


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Fusion Gene ORF analysis for PITRM1-PAFAH1B3

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
intron-3CDSENST00000464395ENST00000262890PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-
intron-3CDSENST00000464395ENST00000538771PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-
In-frameENST00000224949ENST00000262890PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-
Frame-shiftENST00000224949ENST00000538771PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-
In-frameENST00000380989ENST00000262890PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-
Frame-shiftENST00000380989ENST00000538771PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-
intron-3CDSENST00000380994ENST00000262890PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-
intron-3CDSENST00000380994ENST00000538771PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-
In-frameENST00000451104ENST00000262890PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-
Frame-shiftENST00000451104ENST00000538771PITRM1chr10

3201105

-PAFAH1B3chr19

42801517

-

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)
ENST00000224949PITRM1chr103201105-ENST00000262890PAFAH1B3chr1942801517-15041171351228397
ENST00000380989PITRM1chr103201105-ENST00000262890PAFAH1B3chr1942801517-15081175391232397
ENST00000451104PITRM1chr103201105-ENST00000262890PAFAH1B3chr1942801517-1376104331100365

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
ENST00000224949ENST00000262890PITRM1chr103201105-PAFAH1B3chr1942801517-0.0166502860.9833497
ENST00000380989ENST00000262890PITRM1chr103201105-PAFAH1B3chr1942801517-0.016463040.9835369
ENST00000451104ENST00000262890PITRM1chr103201105-PAFAH1B3chr1942801517-0.0072241270.9927759

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Fusion Genomic Features for PITRM1-PAFAH1B3


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.

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 PITRM1-PAFAH1B3


check button Go to

FGviewer for the breakpoints of chr10:3201105-chr19:42801517

.
- 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
..
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.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.

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

- 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 PITRM1-PAFAH1B3


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_ENST00000224949_ENST00000262890_TCGA-25-1625_PITRM1_chr10_3201105_-_PAFAH1B3_chr19_42801517_length(transcript)=1504nt_BP=1171nt
GGGGTTCCTCGCCAGCCAGGTGCTCGTCATGCGCAATGTGGCGCTGCGGCGGGCGGCAGGGCCTGTGTGTGCTGAGGCGGCTGAGCGGCG
GACATGCACACCACAGAGCGTGGCGATGGAACAGTAACCGGGCTTGTGAGAGGGCTCTGCAGTATAAACTAGGAGACAAGATCCATGGAT
TCACCGTAAACCAGGTGACATCTGTTCCCGAGCTGTTCCTGACTGCAGTGAAGCTCACCCATGATGACACAGGAGCCAGGTATTTACACC
TGGCCAGAGAAGACACGAATAATCTGTTCAGCGTGCAGTTCCGTACTACTCCCATGGACAGTACTGGTGTTCCTCACATTCTTGAGCATA
CCGTCCTTTGTGGGTCTCAGAAATATCCGTGCAGAGACCCTTTCTTCAAAATGTTGAACCGGTCCCTCTCCACGTTCATGAACGCCTTCA
CAGCTAGTGATTATACTCTGTATCCATTTTCCACACAAAATCCCAAGGACTTTCAGAATCTCCTCTCGGTGTATTTGGATGCCACCTTTT
TCCCATGTTTACGCGAGCTGGATTTCTGGCAGGAAGGATGGCGGCTGGAACATGAGAATCCGAGCGACCCCCAGACGCCCTTGGTCTTTA
AAGGAGTCGTCTTTAATGAGATGAAGGGAGCGTTTACAGACAATGAGAGGATATTCTCCCAGCACCTTCAGAACAGACTTCTTCCTGACC
ACACGTACTCAGTGGTCTCCGGGGGTGACCCACTGTGCATCCCGGAGCTTACATGGGAGCAGCTTAAGCAGTTTCATGCCACTCACTATC
ACCCAAGCAATGCTAGGTTCTTCACGTACGGTAATTTTCCATTAGAACAGCATCTGAAACAAATTCACGAGGAAGCACTGAGCAAATTCC
AGAAAATTGAACCAAGCACCGTGGTGCCAGCTCAGACACCCTGGGACAAGCCTAGGGAATTCCAGATAACATGTGGCCCGGATTCATTTG
CTACAGATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTACCGGACATCACCGACACATTTGAAGCCTTCACATTAAGTCTTC
TGTCTTCACTCTTGACTTCTGGGCCCAATTCTCCCTTTTACAAAGCCTTGATTGAATCTGGCCTTGGCACAGACTTTTCTCCTGATGTTG
GGGCCTGCTTCCGCGAGGCCAACATCCCAACCCACTTCGGGAGAAGAACCGACAGGTGAACGAGCTGGTACGGGCGGCACTGGCTGGCCA
CCCTCGGGCCCACTTCCTAGATGCCGACCCTGGCTTTGTGCACTCAGATGGCACCATCAGCCATCATGACATGTATGATTACCTGCATCT
GAGCCGCCTGGGCTACACACCTGTTTGCCGGGCTCTGCACTCCCTGCTTCTGCGTCTGCTGGCCCAAGACCAGGGCCAAGGTGCTCCCCT

>In-frame_ENST00000224949_ENST00000262890_TCGA-25-1625_PITRM1_chr10_3201105_-_PAFAH1B3_chr19_42801517_length(amino acids)=397AA_start in transcript=35_stop in transcript=1228
MWRCGGRQGLCVLRRLSGGHAHHRAWRWNSNRACERALQYKLGDKIHGFTVNQVTSVPELFLTAVKLTHDDTGARYLHLAREDTNNLFSV
QFRTTPMDSTGVPHILEHTVLCGSQKYPCRDPFFKMLNRSLSTFMNAFTASDYTLYPFSTQNPKDFQNLLSVYLDATFFPCLRELDFWQE
GWRLEHENPSDPQTPLVFKGVVFNEMKGAFTDNERIFSQHLQNRLLPDHTYSVVSGGDPLCIPELTWEQLKQFHATHYHPSNARFFTYGN
FPLEQHLKQIHEEALSKFQKIEPSTVVPAQTPWDKPREFQITCGPDSFATDPSKQTTISVSFLLPDITDTFEAFTLSLLSSLLTSGPNSP

--------------------------------------------------------------
>In-frame_ENST00000380989_ENST00000262890_TCGA-25-1625_PITRM1_chr10_3201105_-_PAFAH1B3_chr19_42801517_length(transcript)=1508nt_BP=1175nt
AGAGGGGGTTCCTCGCCAGCCAGGTGCTCGTCATGCGCAATGTGGCGCTGCGGCGGGCGGCAGGGCCTGTGTGTGCTGAGGCGGCTGAGC
GGCGGACATGCACACCACAGAGCGTGGCGATGGAACAGTAACCGGGCTTGTGAGAGGGCTCTGCAGTATAAACTAGGAGACAAGATCCAT
GGATTCACCGTAAACCAGGTGACATCTGTTCCCGAGCTGTTCCTGACTGCAGTGAAGCTCACCCATGATGACACAGGAGCCAGGTATTTA
CACCTGGCCAGAGAAGACACGAATAATCTGTTCAGCGTGCAGTTCCGTACTACTCCCATGGACAGTACTGGTGTTCCTCACATTCTTGAG
CATACCGTCCTTTGTGGGTCTCAGAAATATCCGTGCAGAGACCCTTTCTTCAAAATGTTGAACCGGTCCCTCTCCACGTTCATGAACGCC
TTCACAGCTAGTGATTATACTCTGTATCCATTTTCCACACAAAATCCCAAGGACTTTCAGAATCTCCTCTCGGTGTATTTGGATGCCACC
TTTTTCCCATGTTTACGCGAGCTGGATTTCTGGCAGGAAGGATGGCGGCTGGAACATGAGAATCCGAGCGACCCCCAGACGCCCTTGGTC
TTTAAAGGAGTCGTCTTTAATGAGATGAAGGGAGCGTTTACAGACAATGAGAGGATATTCTCCCAGCACCTTCAGAACAGACTTCTTCCT
GACCACACGTACTCAGTGGTCTCCGGGGGTGACCCACTGTGCATCCCGGAGCTTACATGGGAGCAGCTTAAGCAGTTTCATGCCACTCAC
TATCACCCAAGCAATGCTAGGTTCTTCACGTACGGTAATTTTCCATTAGAACAGCATCTGAAACAAATTCACGAGGAAGCACTGAGCAAA
TTCCAGAAAATTGAACCAAGCACCGTGGTGCCAGCTCAGACACCCTGGGACAAGCCTAGGGAATTCCAGATAACATGTGGCCCGGATTCA
TTTGCTACAGATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTACCGGACATCACCGACACATTTGAAGCCTTCACATTAAGT
CTTCTGTCTTCACTCTTGACTTCTGGGCCCAATTCTCCCTTTTACAAAGCCTTGATTGAATCTGGCCTTGGCACAGACTTTTCTCCTGAT
GTTGGGGCCTGCTTCCGCGAGGCCAACATCCCAACCCACTTCGGGAGAAGAACCGACAGGTGAACGAGCTGGTACGGGCGGCACTGGCTG
GCCACCCTCGGGCCCACTTCCTAGATGCCGACCCTGGCTTTGTGCACTCAGATGGCACCATCAGCCATCATGACATGTATGATTACCTGC
ATCTGAGCCGCCTGGGCTACACACCTGTTTGCCGGGCTCTGCACTCCCTGCTTCTGCGTCTGCTGGCCCAAGACCAGGGCCAAGGTGCTC

>In-frame_ENST00000380989_ENST00000262890_TCGA-25-1625_PITRM1_chr10_3201105_-_PAFAH1B3_chr19_42801517_length(amino acids)=397AA_start in transcript=39_stop in transcript=1232
MWRCGGRQGLCVLRRLSGGHAHHRAWRWNSNRACERALQYKLGDKIHGFTVNQVTSVPELFLTAVKLTHDDTGARYLHLAREDTNNLFSV
QFRTTPMDSTGVPHILEHTVLCGSQKYPCRDPFFKMLNRSLSTFMNAFTASDYTLYPFSTQNPKDFQNLLSVYLDATFFPCLRELDFWQE
GWRLEHENPSDPQTPLVFKGVVFNEMKGAFTDNERIFSQHLQNRLLPDHTYSVVSGGDPLCIPELTWEQLKQFHATHYHPSNARFFTYGN
FPLEQHLKQIHEEALSKFQKIEPSTVVPAQTPWDKPREFQITCGPDSFATDPSKQTTISVSFLLPDITDTFEAFTLSLLSSLLTSGPNSP

--------------------------------------------------------------
>In-frame_ENST00000451104_ENST00000262890_TCGA-25-1625_PITRM1_chr10_3201105_-_PAFAH1B3_chr19_42801517_length(transcript)=1376nt_BP=1043nt
GTCATGCGCAATGTGGCGCTGCGGCGGGCGGCAGGGCCTGTGTGTGCTGAGGCGGCTGAGCGGCGGGTGACATCTGTTCCCGAGCTGTTC
CTGACTGCAGTGAAGCTCACCCATGATGACACAGGAGCCAGGTATTTACACCTGGCCAGAGAAGACACGAATAATCTGTTCAGCGTGCAG
TTCCGTACTACTCCCATGGACAGTACTGGTGTTCCTCACATTCTTGAGCATACCGTCCTTTGTGGGTCTCAGAAATATCCGTGCAGAGAC
CCTTTCTTCAAAATGTTGAACCGGTCCCTCTCCACGTTCATGAACGCCTTCACAGCTAGTGATTATACTCTGTATCCATTTTCCACACAA
AATCCCAAGGACTTTCAGAATCTCCTCTCGGTGTATTTGGATGCCACCTTTTTCCCATGTTTACGCGAGCTGGATTTCTGGCAGGAAGGA
TGGCGGCTGGAACATGAGAATCCGAGCGACCCCCAGACGCCCTTGGTCTTTAAAGGAGTCGTCTTTAATGAGATGAAGGGAGCGTTTACA
GACAATGAGAGGATATTCTCCCAGCACCTTCAGAACAGACTTCTTCCTGACCACACGTACTCAGTGGTCTCCGGGGGTGACCCACTGTGC
ATCCCGGAGCTTACATGGGAGCAGCTTAAGCAGTTTCATGCCACTCACTATCACCCAAGCAATGCTAGGTTCTTCACGTACGGTAATTTT
CCATTAGAACAGCATCTGAAACAAATTCACGAGGAAGCACTGAGCAAATTCCAGAAAATTGAACCAAGCACCGTGGTGCCAGCTCAGACA
CCCTGGGACAAGCCTAGGGAATTCCAGATAACATGTGGCCCGGATTCATTTGCTACAGATCCCTCTAAACAAACAACCATCAGCGTTAGC
TTCCTCTTACCGGACATCACCGACACATTTGAAGCCTTCACATTAAGTCTTCTGTCTTCACTCTTGACTTCTGGGCCCAATTCTCCCTTT
TACAAAGCCTTGATTGAATCTGGCCTTGGCACAGACTTTTCTCCTGATGTTGGGGCCTGCTTCCGCGAGGCCAACATCCCAACCCACTTC
GGGAGAAGAACCGACAGGTGAACGAGCTGGTACGGGCGGCACTGGCTGGCCACCCTCGGGCCCACTTCCTAGATGCCGACCCTGGCTTTG
TGCACTCAGATGGCACCATCAGCCATCATGACATGTATGATTACCTGCATCTGAGCCGCCTGGGCTACACACCTGTTTGCCGGGCTCTGC
ACTCCCTGCTTCTGCGTCTGCTGGCCCAAGACCAGGGCCAAGGTGCTCCCCTGCTGGAGCCCGCACCCTAAGCATCCTGCTGCCTTCCCA

>In-frame_ENST00000451104_ENST00000262890_TCGA-25-1625_PITRM1_chr10_3201105_-_PAFAH1B3_chr19_42801517_length(amino acids)=365AA_start in transcript=3_stop in transcript=1100
MRNVALRRAAGPVCAEAAERRVTSVPELFLTAVKLTHDDTGARYLHLAREDTNNLFSVQFRTTPMDSTGVPHILEHTVLCGSQKYPCRDP
FFKMLNRSLSTFMNAFTASDYTLYPFSTQNPKDFQNLLSVYLDATFFPCLRELDFWQEGWRLEHENPSDPQTPLVFKGVVFNEMKGAFTD
NERIFSQHLQNRLLPDHTYSVVSGGDPLCIPELTWEQLKQFHATHYHPSNARFFTYGNFPLEQHLKQIHEEALSKFQKIEPSTVVPAQTP
WDKPREFQITCGPDSFATDPSKQTTISVSFLLPDITDTFEAFTLSLLSSLLTSGPNSPFYKALIESGLGTDFSPDVGACFREANIPTHFG

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

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Fusion Gene PPI Analysis for PITRM1-PAFAH1B3


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 PITRM1-PAFAH1B3


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 PITRM1-PAFAH1B3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePITRM1C0004134Ataxia1GENOMICS_ENGLAND
HgenePITRM1C3714756Intellectual Disability1GENOMICS_ENGLAND