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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:DNAJC1-DCLRE1C (FusionGDB2 ID:23483)

Fusion Gene Summary for DNAJC1-DCLRE1C

check button Fusion gene summary
Fusion gene informationFusion gene name: DNAJC1-DCLRE1C
Fusion gene ID: 23483
HgeneTgene
Gene symbol

DNAJC1

DCLRE1C

Gene ID

64215

64421

Gene nameDnaJ heat shock protein family (Hsp40) member C1DNA cross-link repair 1C
SynonymsDNAJL1|ERdj1|HTJ1|MTJ1A-SCID|DCLREC1C|RS-SCID|SCIDA|SNM1C
Cytomap

10p12.31

10p13

Type of geneprotein-codingprotein-coding
DescriptiondnaJ homolog subfamily C member 1DnaJ (Hsp40) homolog, subfamily C, member 1DnaJ-like proteindnaJ protein homolog MTJ1protein artemisDNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)SNM1 homolog CSNM1-like proteinsevere combined immunodeficiency, type a (Athabascan)
Modification date2020031320200313
UniProtAcc

Q96KC8

Q96SD1

Ensembl transtripts involved in fusion geneENST00000376980, ENST00000376946, 
ENST00000483085, 
ENST00000357717, 
ENST00000378242, ENST00000378246, 
ENST00000378249, ENST00000378254, 
ENST00000378255, ENST00000378258, 
ENST00000378278, ENST00000396817, 
ENST00000453695, ENST00000492201, 
ENST00000378289, 
Fusion gene scores* DoF score17 X 15 X 7=178510 X 9 X 4=360
# samples 1810
** MAII scorelog2(18/1785*10)=-3.30985526258679
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNAJC1 [Title/Abstract] AND DCLRE1C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNAJC1(22171211)-DCLRE1C(14941311), # samples:2
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
HgeneDNAJC1

GO:0050708

regulation of protein secretion

14668352


check buttonFusion gene breakpoints across DNAJC1 (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 DCLRE1C (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 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
ChimerDB4BRCATCGA-A8-A081-01ADNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-


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Fusion Gene ORF analysis for DNAJC1-DCLRE1C

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-intronENST00000376980ENST00000357717DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378242DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378246DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378249DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378254DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378255DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378258DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378278DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000396817DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000453695DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000492201DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
In-frameENST00000376980ENST00000378289DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-3CDSENST00000376946ENST00000378289DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-3CDSENST00000483085ENST00000378289DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000357717DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378242DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378246DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378249DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378254DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378255DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378258DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378278DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000396817DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000453695DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000492201DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000357717DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378242DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378246DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378249DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378254DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378255DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378258DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378278DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000396817DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000453695DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000492201DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-

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)
ENST00000376980DNAJC1chr1022171211-ENST00000378289DCLRE1Cchr1014941311-322312692041331375

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
ENST00000376980ENST00000378289DNAJC1chr1022171211-DCLRE1Cchr1014941311-0.0003563280.9996437

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Fusion Genomic Features for DNAJC1-DCLRE1C


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.
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.

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Fusion Protein Features for DNAJC1-DCLRE1C


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/chr10:22171211/chr10:14941311)
- 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
DNAJC1

Q96KC8

DCLRE1C

Q96SD1

FUNCTION: May modulate protein synthesis. {ECO:0000250}.FUNCTION: Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ. {ECO:0000269|PubMed:11336668, ECO:0000269|PubMed:11955432, ECO:0000269|PubMed:12055248, ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507, ECO:0000269|PubMed:15456891, ECO:0000269|PubMed:15468306, ECO:0000269|PubMed:15574326, ECO:0000269|PubMed:15574327, ECO:0000269|PubMed:15811628, ECO:0000269|PubMed:15936993}.

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
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-81265_129326555.0DomainJ
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-81248_153326555.0Topological domainLumenal
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812154_174326555.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812325_379326555.0DomainSANT 1
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812492_547326555.0DomainSANT 2
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812175_554326555.0Topological domainCytoplasmic


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Fusion Gene Sequence for DNAJC1-DCLRE1C


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.
>23483_23483_1_DNAJC1-DCLRE1C_DNAJC1_chr10_22171211_ENST00000376980_DCLRE1C_chr10_14941311_ENST00000378289_length(transcript)=3223nt_BP=1269nt
GCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCC
GCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCT
GCCCGCGCTTTTCACTGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGT
GACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCG
CCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTG
GAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAGGATGCATCATCTGCAGACATCAGAAAA
GCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAATTGGTGGCCATTTAT
GAAGTTTTAAAGGATGATGAACGAAGGCAGAGGTATGATGATATTCTGATCAATGGACTTCCAGATTGGCGACAGCCTGTATTCTACTAC
AGGCGGGTGAGAAAAATGAGCAATGCTGAGCTGGCATTACTCTTGTTCATTATTCTCACAGTGGGTCATTATGCTGTGGTTTGGTCAATC
TACCTGGAAAAACAACTGGATGAACTACTAAGTAGAAAAAAGAGAGAAAAGAAAAAAAAGACTGGCAGCAAGAGTGTGGATGTATCAAAA
CTCGGTGCTTCAGAAAAAAATGAAAGATTGCTGATGAAACCACAGTGGCATGATTTGCTTCCATGCAAACTGGGGATTTGGTTTTGCCTT
ACACTAAAAGCATTACCTCACCTCATCCAGGATGCTGGGCAGTTTTATGCTAAATATAAAGAAACAAGATTGAAGGAAAAGGAAGATGCA
CTGACTAGAACTGAACTTGAAACACTTCAAAAACAGAAGAAAGTTAAAAAACCAAAACCTGAATTTCCTGTATACACACCTTTAGAAACT
ACATATATTCAGTCTTATGATCATGGAACTTCCATAGAAGAAATTGAGGAACAAATGGATGATTGGTTGGAAAACAGGAACCGAACACAG
AAAAAACAGGGTCTCACTCTGTCACTCAGGCTAGAATGCGGTGGTGCCATCATGACTCCCTGTATCCTTTAACTCCTGGGATCAAGCGAT
CTTCCTGCCTCAGCCTCCTGACTAGCTGGATCACAGGTGCATACCGCCATGCCCAGCTAATGATTTAGTTTTTATAGAGATGTGGGGTCT
CACTATGTTGCCCACACTGGTCTGGAACTCCTGGGCTCAAGTGAGCCTCCAGCCTTGACCTCCCCAAGTGCTGGGATTAACTGTAACTGG
TTGATTTATGACTTTTTAAACAGGATTTGAGCAGTACATTGGAACACTGCATTACTTTCATTATAATTAGGATGTTCAAAAAGCTATACA
ACTATAGCTCTCTACAGGACACAACTGAATGTTAAGGACTAAATCTGCAAGTATATGCTCTAAATATGATCCAGGCACATTTTTCCTATA
ACTTATATATATGCAGTTACAAATGGAAAATTGTTAAAAATACAGGGGAGAAGCTATGTTAACTTTGGAATGGAAGGTTTTGTTTTTGTA
GAATATGTTATTTTCATGCAATTCTGTAAGTCTAAGATCGTCATCTACAGTTCTGCTCTTAAGAACACAAGTTTTATGACACGCTCGGCT
TAAGAAACCAAAAGTGTCTAAAGTACTTTATGTTACCAACCAAATTTGGCTGCTGCACTCATTAAGAATGCAACTTAAAAAATTTTGGTT
AACAAAAAGAGTAATTTGATTATACAAGATCTTGTATACTGAATAATTTATAATAATCTACCACTGTCTAAAAGTGTAAGAATCAAAACA
GCCATCTAATTTAGTTTCAGAATTATAGATGAATACAGATAATTATAGGTGACCCAATTCCAACTAAAAAATCCAGAGTTGACAACTCCA
GATATGTAGCCATGCTTGTGTCTTTCTAGTCACAGCTCAACCTACCCTTCAGTTTGAAGCAGTGTGGTGCCATGGTGAAGACTACTGATT
TTAGAGCTTTGAATCTCGGTTCTTATTACTATGTGACCTGTGTGACCTTGGGCAAGGTACTCAATTTCTCTACAATAATGGACATAACAG
TACTACTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAGTACTACCTCACTGAGTTTTGGAGAGGATTAGTGAATTAATACAT
CAAGTGCTTAGAATAGTATGTGACACACGGCAAATACTTTTTACATTTATATATATATATACATATATATGATTTGTATACAAATAAATT
TGCTAGTATTTGTATGGTAGTTTTGAGAATGGTCTTCACAGTTCAAAAGTAAGTTACAGATTATGGATGCAATAAATGCTTGTGTATATT
TTACAAAACTCATAAATATAGTATCTTTCATGTTGATCCAAAATAGAGTTCTGCCAACTACATTTAATCATATTTGGTCAAATAGATGAA
GTAAATTAAAACTTTCAAGTTTCAAAGCAGCATGTGTTACATCTGAGTTTCTTCTTAGGACTTTTGGGTAAAAACAGTTGTCATATTTTA
AATTTTACAAATCCTAGGTTTGACTAGTAGGAATGTGTATTTGTTGAAAGATGACTATATCAATTTGTTTTAACGTATATTTTTTATTCA
TATAAAAGTTTTTTATTTCTAAATATGCCAGTGAACTCTTCTCCTAAATCTGAATAAATTTCTACATATCTGCAAATGAAAATATCAAAA
TGTACCAAGTATCTCTTAAAGAGATAAAAAGGTAATTTTCCAAAAGTATAAACCTTGCATGTCCATCATTTACTACGTGGCAAATGAAAC
ATACCTCTCCAACATATTCCATGACAAAACTCATTCTTTTAATCTTCACAAGGGTCTTTACACCCCAGCCACGTCCATTGCTAGTTCGAA

>23483_23483_1_DNAJC1-DCLRE1C_DNAJC1_chr10_22171211_ENST00000376980_DCLRE1C_chr10_14941311_ENST00000378289_length(amino acids)=375AA_BP=353
MFPTASAARHVPALGQRSCAAGDLSEPSAMTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEE
VQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMSN
AELALLLFIILTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPHL
IQDAGQFYAKYKETRLKEKEDALTRTELETLQKQKKVKKPKPEFPVYTPLETTYIQSYDHGTSIEEIEEQMDDWLENRNRTQKKQGLTLS

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

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Fusion Gene PPI Analysis for DNAJC1-DCLRE1C


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 DNAJC1-DCLRE1C


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 DNAJC1-DCLRE1C


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