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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:POLDIP3-TTLL1 (FusionGDB2 ID:66508)

Fusion Gene Summary for POLDIP3-TTLL1

check button Fusion gene summary
Fusion gene informationFusion gene name: POLDIP3-TTLL1
Fusion gene ID: 66508
HgeneTgene
Gene symbol

POLDIP3

TTLL1

Gene ID

84271

25809

Gene nameDNA polymerase delta interacting protein 3tubulin tyrosine ligase like 1
SynonymsPDIP3|PDIP46|SKARC22orf7|HS323M22B
Cytomap

22q13.2

22q13.2

Type of geneprotein-codingprotein-coding
Descriptionpolymerase delta-interacting protein 346 kDa DNA polymerase delta interaction proteinRNA-binding protein P46S6K1 Aly/REF-like targetpolymerase (DNA) delta interacting protein 3polymerase (DNA-directed), delta interacting protein 3probable tubulin polyglutamylase TTLL1PGs3catalytic subunit of neural tubulin polyglutamylasetubulin polyglutamylase complex subunit 3tubulin tyrosine ligase-like family, member 1tubulin--tyrosine ligase-like protein 1tubulin-tyrosine ligase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000348657, ENST00000252115, 
ENST00000339677, ENST00000451060, 
ENST00000491021, 		ENST00000331018, 
ENST00000266254, ENST00000445824, 
Fusion gene scores* DoF score15 X 26 X 8=31207 X 8 X 6=336
# samples 2913
** MAII scorelog2(29/3120*10)=-3.42742122373468
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/336*10)=-1.36994960975031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: POLDIP3 [Title/Abstract] AND TTLL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPOLDIP3(43010805)-TTLL1(43435911), # samples:1
POLDIP3(42993848)-TTLL1(43069413), # 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
HgenePOLDIP3

GO:0016973

poly(A)+ mRNA export from nucleus

22928037


check buttonFusion gene breakpoints across POLDIP3 (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 TTLL1 (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
ChimerDB4PRADTCGA-KK-A8IJ-01APOLDIP3chr22

43010805

-TTLL1chr22

43435911

-
ChiTaRS5.0N/AEC526372POLDIP3chr22

42993848

+TTLL1chr22

43069413

+


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Fusion Gene ORF analysis for POLDIP3-TTLL1

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-frameENST00000348657ENST00000331018POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
In-frameENST00000348657ENST00000266254POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
5CDS-intronENST00000348657ENST00000445824POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
In-frameENST00000252115ENST00000331018POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
In-frameENST00000252115ENST00000266254POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
5CDS-intronENST00000252115ENST00000445824POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
In-frameENST00000339677ENST00000331018POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
In-frameENST00000339677ENST00000266254POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
5CDS-intronENST00000339677ENST00000445824POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
intron-3CDSENST00000451060ENST00000331018POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
intron-3CDSENST00000451060ENST00000266254POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
intron-intronENST00000451060ENST00000445824POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
intron-3CDSENST00000491021ENST00000331018POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
intron-3CDSENST00000491021ENST00000266254POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
intron-intronENST00000491021ENST00000445824POLDIP3chr22

43010805

-TTLL1chr22

43435911

-
intron-intronENST00000348657ENST00000331018POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000348657ENST00000266254POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000348657ENST00000445824POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000252115ENST00000331018POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000252115ENST00000266254POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000252115ENST00000445824POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000339677ENST00000331018POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000339677ENST00000266254POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000339677ENST00000445824POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000451060ENST00000331018POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000451060ENST00000266254POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000451060ENST00000445824POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000491021ENST00000331018POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000491021ENST00000266254POLDIP3chr22

42993848

+TTLL1chr22

43069413

+
intron-intronENST00000491021ENST00000445824POLDIP3chr22

42993848

+TTLL1chr22

43069413

+

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)
ENST00000348657POLDIP3chr2243010805-ENST00000331018TTLL1chr2243435911-5231337426262
ENST00000348657POLDIP3chr2243010805-ENST00000266254TTLL1chr2243435911-3951332831190
ENST00000252115POLDIP3chr2243010805-ENST00000331018TTLL1chr2243435911-55416410529362
ENST00000252115POLDIP3chr2243010805-ENST00000266254TTLL1chr2243435911-4261643144290
ENST00000339677POLDIP3chr2243010805-ENST00000331018TTLL1chr2243435911-44959018862
ENST00000339677POLDIP3chr2243010805-ENST00000266254TTLL1chr2243435911-32159209070

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
ENST00000348657ENST00000331018POLDIP3chr2243010805-TTLL1chr2243435911-0.240381580.75961846
ENST00000348657ENST00000266254POLDIP3chr2243010805-TTLL1chr2243435911-0.283702880.71629715
ENST00000252115ENST00000331018POLDIP3chr2243010805-TTLL1chr2243435911-0.133150890.8668491
ENST00000252115ENST00000266254POLDIP3chr2243010805-TTLL1chr2243435911-0.191484730.8085153
ENST00000339677ENST00000331018POLDIP3chr2243010805-TTLL1chr2243435911-0.576433660.42356634
ENST00000339677ENST00000266254POLDIP3chr2243010805-TTLL1chr2243435911-0.59884320.4011568

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Fusion Genomic Features for POLDIP3-TTLL1


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 POLDIP3-TTLL1


check button Go to

FGviewer for the breakpoints of chr22:43010805-chr22:43435911

.
- 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
TgeneTTLL1chr22:43010805chr22:43435911ENST00000445824041_367060.0DomainTTL
TgeneTTLL1chr22:43010805chr22:43435911ENST0000044582404181_184060.0Nucleotide bindingATP binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePOLDIP3chr22:43010805chr22:43435911ENST00000252115-19280_35119.666666666666668422.0DomainRRM
HgenePOLDIP3chr22:43010805chr22:43435911ENST00000348657-18280_35119.666666666666668393.0DomainRRM
TgeneTTLL1chr22:43010805chr22:43435911ENST000002662549111_367380.6666666666667424.0DomainTTL
TgeneTTLL1chr22:43010805chr22:43435911ENST000003310188101_367351.6666666666667395.0DomainTTL
TgeneTTLL1chr22:43010805chr22:43435911ENST00000266254911181_184380.6666666666667424.0Nucleotide bindingATP binding
TgeneTTLL1chr22:43010805chr22:43435911ENST00000331018810181_184351.6666666666667395.0Nucleotide bindingATP binding


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Fusion Gene Sequence for POLDIP3-TTLL1


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_ENST00000348657_ENST00000331018_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(transcript)=523nt_BP=133nt
TTCGTCGCTCCCTAGCGGCCGAAGGGGCGGGCTCGCGGGGTCTCGACTGCTTTCGGCTTGCTCGGCGGAGCAAGATGGCGGACATCTCCC
TGGACGAACTCATCAGGAAGCGCGGGGCGGCGGCGAAAGGACGGTATGATGAAGAATTGGCCCAGGGTGACGGGGCTGACCGGGAGCTGA
GAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGATCGAGAGACTCGGGGAGAGCGGTCCTCACCACCTGGAAGTGAGTCCCAC
CTGGACCTTATCAAAACTACTCACTCCACCTGGGCCCCTGCTGAAGCCCTATTTTGAAATTTCCCTTTTGTAGAGCTTTTTTCCTTTCCT
AAGCCCTGTAAATAAACGAAGGCACTTCTTTGGAAGGTTATGGAGTCTGTTTGACTAGTGCTAAAGGAAACAATTCATGCGGATGTATAA

>In-frame_ENST00000348657_ENST00000331018_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(amino acids)=62AA_start in transcript=74_stop in transcript=262

--------------------------------------------------------------
>In-frame_ENST00000348657_ENST00000266254_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(transcript)=395nt_BP=133nt
TTCGTCGCTCCCTAGCGGCCGAAGGGGCGGGCTCGCGGGGTCTCGACTGCTTTCGGCTTGCTCGGCGGAGCAAGATGGCGGACATCTCCC
TGGACGAACTCATCAGGAAGCGCGGGGCGGCGGCGAAAGGACGGTATGATGAAGAATTGGCCCAGGGTGACGGGGCTGACCGGGAGCTGA
GAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGATCGAGAGACTCGGGGAGAGCGGTCCTCACCACCTGGAAGTGAGTCCCAC
CTGGACCTTATCAAAACTACTCACTCCACCTGGGCCCCTGCTGAAGCCCTATTTTGAAATTTCCCTTTTGTAGAGCTTTTTTCCTTTCCT

>In-frame_ENST00000348657_ENST00000266254_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(amino acids)=90AA_start in transcript=283_stop in transcript=11
MIRSRWDSLPGGEDRSPRVSRSACSGPQRLTLTASQLPVSPVTLGQFFIIPSFRRRPALPDEFVQGDVRHLAPPSKPKAVETPRARPFGR

--------------------------------------------------------------
>In-frame_ENST00000252115_ENST00000331018_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(transcript)=554nt_BP=164nt
GCGAGAGTTGGTCCGCGGACGCCGGAAGTAGTTCGTCGCTCCCTAGCGGCCGAAGGGGCGGGCTCGCGGGGTCTCGACTGCTTTCGGCTT
GCTCGGCGGAGCAAGATGGCGGACATCTCCCTGGACGAACTCATCAGGAAGCGCGGGGCGGCGGCGAAAGGACGGTATGATGAAGAATTG
GCCCAGGGTGACGGGGCTGACCGGGAGCTGAGAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGATCGAGAGACTCGGGGAGA
GCGGTCCTCACCACCTGGAAGTGAGTCCCACCTGGACCTTATCAAAACTACTCACTCCACCTGGGCCCCTGCTGAAGCCCTATTTTGAAA
TTTCCCTTTTGTAGAGCTTTTTTCCTTTCCTAAGCCCTGTAAATAAACGAAGGCACTTCTTTGGAAGGTTATGGAGTCTGTTTGACTAGT
GCTAAAGGAAACAATTCATGCGGATGTATAAAACTCGCTCTTTTTTTTTTAATTTTTAACCTAAGCAGAATTTTCATATTAAAAACTCAC

>In-frame_ENST00000252115_ENST00000331018_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(amino acids)=62AA_start in transcript=105_stop in transcript=293

--------------------------------------------------------------
>In-frame_ENST00000252115_ENST00000266254_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(transcript)=426nt_BP=164nt
GCGAGAGTTGGTCCGCGGACGCCGGAAGTAGTTCGTCGCTCCCTAGCGGCCGAAGGGGCGGGCTCGCGGGGTCTCGACTGCTTTCGGCTT
GCTCGGCGGAGCAAGATGGCGGACATCTCCCTGGACGAACTCATCAGGAAGCGCGGGGCGGCGGCGAAAGGACGGTATGATGAAGAATTG
GCCCAGGGTGACGGGGCTGACCGGGAGCTGAGAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGATCGAGAGACTCGGGGAGA
GCGGTCCTCACCACCTGGAAGTGAGTCCCACCTGGACCTTATCAAAACTACTCACTCCACCTGGGCCCCTGCTGAAGCCCTATTTTGAAA

>In-frame_ENST00000252115_ENST00000266254_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(amino acids)=90AA_start in transcript=314_stop in transcript=42
MIRSRWDSLPGGEDRSPRVSRSACSGPQRLTLTASQLPVSPVTLGQFFIIPSFRRRPALPDEFVQGDVRHLAPPSKPKAVETPRARPFGR

--------------------------------------------------------------
>In-frame_ENST00000339677_ENST00000331018_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(transcript)=449nt_BP=59nt
ATGGCGGACATCTCCCTGGACGAACTCATCAGGAAGCGCGGGGCGGCGGCGAAAGGACGGTATGATGAAGAATTGGCCCAGGGTGACGGG
GCTGACCGGGAGCTGAGAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGATCGAGAGACTCGGGGAGAGCGGTCCTCACCACC
TGGAAGTGAGTCCCACCTGGACCTTATCAAAACTACTCACTCCACCTGGGCCCCTGCTGAAGCCCTATTTTGAAATTTCCCTTTTGTAGA
GCTTTTTTCCTTTCCTAAGCCCTGTAAATAAACGAAGGCACTTCTTTGGAAGGTTATGGAGTCTGTTTGACTAGTGCTAAAGGAAACAAT

>In-frame_ENST00000339677_ENST00000331018_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(amino acids)=62AA_start in transcript=0_stop in transcript=188

--------------------------------------------------------------
>In-frame_ENST00000339677_ENST00000266254_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(transcript)=321nt_BP=59nt
ATGGCGGACATCTCCCTGGACGAACTCATCAGGAAGCGCGGGGCGGCGGCGAAAGGACGGTATGATGAAGAATTGGCCCAGGGTGACGGG
GCTGACCGGGAGCTGAGAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGATCGAGAGACTCGGGGAGAGCGGTCCTCACCACC
TGGAAGTGAGTCCCACCTGGACCTTATCAAAACTACTCACTCCACCTGGGCCCCTGCTGAAGCCCTATTTTGAAATTTCCCTTTTGTAGA

>In-frame_ENST00000339677_ENST00000266254_TCGA-KK-A8IJ-01A_POLDIP3_chr22_43010805_-_TTLL1_chr22_43435911_length(amino acids)=70AA_start in transcript=209_stop in transcript=0

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

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Fusion Gene PPI Analysis for POLDIP3-TTLL1


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 POLDIP3-TTLL1


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 POLDIP3-TTLL1


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