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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10237

FusionGeneSummary for DNAJC1_DCLRE1C

check button Fusion gene summary
Fusion gene informationFusion gene name: DNAJC1_DCLRE1C
Fusion gene ID: 10237
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 date2018051920180523
UniProtAcc

Q96KC8

Q96SD1

Ensembl transtripts involved in fusion geneENST00000376980, ENST00000376946, 
ENST00000483085, 
ENST00000378289, 
ENST00000453695, ENST00000378246, 
ENST00000357717, ENST00000378278, 
ENST00000396817, ENST00000378254, 
ENST00000378255, ENST00000378249, 
ENST00000378258, ENST00000378242, 
ENST00000492201, 
Fusion gene scores* DoF score8 X 7 X 4=2244 X 3 X 3=36
# samples 84
** MAII scorelog2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-A8-A081-01ADNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-frameENST00000376980ENST00000378289DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000453695DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378246DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000357717DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378278DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000396817DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378254DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378255DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378249DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378258DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000378242DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
5CDS-intronENST00000376980ENST00000492201DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-3CDSENST00000376946ENST00000378289DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000453695DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378246DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000357717DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378278DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000396817DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378254DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378255DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378249DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378258DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000378242DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000376946ENST00000492201DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-3CDSENST00000483085ENST00000378289DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000453695DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378246DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000357717DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378278DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000396817DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378254DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378255DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378249DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378258DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000378242DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-
intron-intronENST00000483085ENST00000492201DNAJC1chr10

22171211

-DCLRE1Cchr10

14941311

-

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FusionProtFeatures for DNAJC1_DCLRE1C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DNAJC1

Q96KC8

DCLRE1C

Q96SD1

May modulate protein synthesis. {ECO:0000250}.

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_129326555DomainJ
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-81248_153326555Topological domainLumenal
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812154_174326555TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812325_379326555DomainSANT 1
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812492_547326555DomainSANT 2
HgeneDNAJC1chr10:22171211chr10:14941311ENST00000376980-812175_554326555Topological domainCytoplasmic


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FusionGeneSequence for DNAJC1_DCLRE1C


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_DNAJC1_ENST00000376980_chr10_22171211_-_DCLRE1C_ENST00000378289_chr10_14941311_-_375aa
MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQDASSADIRKATRKLSL
TLHPDKNKDENAETQFRQLVAITEVLKDDERRQRTDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIILTVGHTAVVWSIYLEKQLD
ELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPHLIQDAGQFTAKTKETRLKEKEDALTRTELE
TLQKQKKVKKPKPEFPVYTPLETTTIQSTDHGTSIEEIEEQMDDWLENRNRTQKKQGLTLSLRLECGGAIMTPCIL_LLGSSDLPASAS_


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_DNAJC1_ENST00000376980_chr10_22171211_-_DCLRE1C_ENST00000378289_chr10_14941311_-_1127nt
ATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCGCCGCCGCCGCCGCGGACGCCG
CTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTGGAGTTGTTTGACTTAGTGGAG
GAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAGGATGCATCATCTGCAGACATCAGAAAAGCATATCGTAAGCTTTCACTA
ACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAATTGGTGGCCATTTATGAAGTTTTAAAGGATGATGAA
CGAAGGCAGAGGTATGATGATATTCTGATCAATGGACTTCCAGATTGGCGACAGCCTGTATTCTACTACAGGCGGGTGAGAAAAATGAGC
AATGCTGAGCTGGCATTACTCTTGTTCATTATTCTCACAGTGGGTCATTATGCTGTGGTTTGGTCAATCTACCTGGAAAAACAACTGGAT
GAACTACTAAGTAGAAAAAAGAGAGAAAAGAAAAAAAAGACTGGCAGCAAGAGTGTGGATGTATCAAAACTCGGTGCTTCAGAAAAAAAT
GAAAGATTGCTGATGAAACCACAGTGGCATGATTTGCTTCCATGCAAACTGGGGATTTGGTTTTGCCTTACACTAAAAGCATTACCTCAC
CTCATCCAGGATGCTGGGCAGTTTTATGCTAAATATAAAGAAACAAGATTGAAGGAAAAGGAAGATGCACTGACTAGAACTGAACTTGAA
ACACTTCAAAAACAGAAGAAAGTTAAAAAACCAAAACCTGAATTTCCTGTATACACACCTTTAGAAACTACATATATTCAGTCTTATGAT
CATGGAACTTCCATAGAAGAAATTGAGGAACAAATGGATGATTGGTTGGAAAACAGGAACCGAACACAGAAAAAACAGGGTCTCACTCTG
TCACTCAGGCTAGAATGCGGTGGTGCCATCATGACTCCCTGTATCCTTTAACTCCTGGGATCAAGCGATCTTCCTGCCTCAGCCTCCTGA


* Fusion transcript sequences (Full-length transcript).
>In-frame_DNAJC1_ENST00000376980_chr10_22171211_-_DCLRE1C_ENST00000378289_chr10_14941311_-_3223nt
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


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FusionGenePPI 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
DNAJC1ABHD16A, SERPINA3, LMNA, CLEC12A, MRPS27, HLA-C, FAM189A2, FAM63B, EVA1C, HSPA8, HSPA9, TCTN2, TCTN3, TMEM216, HSPA5, CLEC2D, RMND1, CDH5, SCGB2A2, VAV1, CORO1ADCLRE1CPRKDC, FBXW7, DDB1, DDB2, ATM, BRCA1, RAD50, NBN, MRE11A, ATR, XRCC5, CDKN1B, AKAP11, ANKRD52, ZSWIM8, PRKAG2, PRKAG1, PPP6R2, PRKAB1, PRKAB2, TRIM26, PRKACB, PRKAA1, PRKAA2, PASK, ANKRD28, DDX20, PPP6R1, GOLGA2, SPATA20, CDC27, PRKAR1B, PPP2R5E, TP53, MTHFR


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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RelatedDrugs for DNAJC1_DCLRE1C


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DNAJC1_DCLRE1C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNAJC1C0025202melanoma1CTD_human
TgeneDCLRE1CC1865370Severe combined immunodeficiency with sensitivity to ionizing radiation1CTD_human;ORPHANET;UNIPROT
TgeneDCLRE1CC2700553Omenn Syndrome1ORPHANET;UNIPROT