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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: 10231

FusionGeneSummary for DNAJC17_CIB2

check button Fusion gene summary
Fusion gene informationFusion gene name: DNAJC17_CIB2
Fusion gene ID: 10231
HgeneTgene
Gene symbol

DNAJC17

CIB2

Gene ID

55192

10518

Gene nameDnaJ heat shock protein family (Hsp40) member C17calcium and integrin binding family member 2
Synonyms-DFNB48|KIP2|USH1J
Cytomap

15q15.1

15q25.1

Type of geneprotein-codingprotein-coding
DescriptiondnaJ homolog subfamily C member 17DnaJ (Hsp40) homolog, subfamily C, member 17calcium and integrin-binding family member 2DNA-dependent protein kinase catalytic subunit-interacting protein 2
Modification date2018051920180519
UniProtAcc

Q9NVM6

O75838

Ensembl transtripts involved in fusion geneENST00000220496, ENST00000558727, 
ENST00000258930, ENST00000539011, 
ENST00000557846, ENST00000560618, 
Fusion gene scores* DoF score5 X 2 X 5=505 X 2 X 4=40
# samples 75
** MAII scorelog2(7/50*10)=0.485426827170242
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DNAJC17 [Title/Abstract] AND CIB2 [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
TgeneCIB2

GO:0007204

positive regulation of cytosolic calcium ion concentration

23023331|26173970

TgeneCIB2

GO:0071318

cellular response to ATP

23023331|26173970


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
TCGARVLUADTCGA-55-1592-01ADNAJC17chr15

41099567

-CIB2chr15

78416081

-
* 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-frameENST00000220496ENST00000258930DNAJC17chr15

41099567

-CIB2chr15

78416081

-
5CDS-intronENST00000220496ENST00000539011DNAJC17chr15

41099567

-CIB2chr15

78416081

-
5CDS-intronENST00000220496ENST00000557846DNAJC17chr15

41099567

-CIB2chr15

78416081

-
5CDS-intronENST00000220496ENST00000560618DNAJC17chr15

41099567

-CIB2chr15

78416081

-
intron-3CDSENST00000558727ENST00000258930DNAJC17chr15

41099567

-CIB2chr15

78416081

-
intron-intronENST00000558727ENST00000539011DNAJC17chr15

41099567

-CIB2chr15

78416081

-
intron-intronENST00000558727ENST00000557846DNAJC17chr15

41099567

-CIB2chr15

78416081

-
intron-intronENST00000558727ENST00000560618DNAJC17chr15

41099567

-CIB2chr15

78416081

-

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FusionProtFeatures for DNAJC17_CIB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DNAJC17

Q9NVM6

CIB2

O75838

May negatively affect PAX8-induced thyroglobulin/TGtranscription. {ECO:0000250|UniProtKB:Q91WT4}. Calcium-binding protein critical for properphotoreceptor cell maintenance and function. Plays a role inintracellular calcium homeostasis by decreasing ATP-inducedcalcium release (PubMed:23023331, PubMed:26173970,PubMed:26426422). May be involved in the mechanotransductionprocess (By similarity). {ECO:0000250,ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:26173970,ECO:0000269|PubMed:26426422}.

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
TgeneCIB2chr15:41099567chr15:78416081ENST00000258930-06116_12717188Calcium binding1
TgeneCIB2chr15:41099567chr15:78416081ENST00000258930-06157_16817188Calcium binding2
TgeneCIB2chr15:41099567chr15:78416081ENST00000258930-06103_13817188DomainEF-hand 2
TgeneCIB2chr15:41099567chr15:78416081ENST00000258930-06144_17917188DomainEF-hand 3
TgeneCIB2chr15:41099567chr15:78416081ENST00000258930-0666_10117188DomainEF-hand 1

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDNAJC17chr15:41099567chr15:78416081ENST00000220496-111111_11726305Compositional biasNote=Poly-Glu
HgeneDNAJC17chr15:41099567chr15:78416081ENST00000220496-11111_7626305DomainJ
HgeneDNAJC17chr15:41099567chr15:78416081ENST00000220496-111178_24926305DomainNote=RRM


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FusionGeneSequence for DNAJC17_CIB2


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_DNAJC17_ENST00000220496_chr15_41099567_-_CIB2_ENST00000258930_chr15_78416081_-_197aa
MAVTKELLQMDLYALLGIEEKAADKEDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSED
GEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFED


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_DNAJC17_ENST00000220496_chr15_41099567_-_CIB2_ENST00000258930_chr15_78416081_-_591nt
ATGGCAGTGACCAAGGAGCTCTTACAGATGGACCTGTACGCGCTGCTAGGCATTGAGGAGAAGGCAGCGGACAAAGAGGACTGCACCTTC
TTCAATAAGAAGGACATCCTCAAGCTGCATTCGCGATTCTATGAGCTGGCCCCCAACCTCGTCCCAATGGACTACAGGAAGAGCCCCATC
GTCCACGTGCCCATGAGCCTCATCATCCAGATGCCAGAGCTCCGGGAGAATCCCTTCAAAGAAAGGATCGTGGCGGCGTTTTCCGAGGAT
GGTGAGGGGAACCTCACTTTCAACGACTTTGTGGACATGTTTTCCGTGCTCTGCGAGTCGGCTCCCCGAGAGCTCAAGGCAAACTATGCC
TTCAAGATCTATGACTTCAACACTGACAACTTCATCTGCAAGGAGGACCTGGAGCTGACGCTGGCCCGGCTCACTAAGTCAGAGCTGGAT
GAGGAGGAGGTGGTGCTTGTGTGCGACAAGGTCATTGAGGAGGCTGACTTGGACGGTGACGGCAAGCTGGGCTTTGCTGACTTCGAGGAC


* Fusion transcript sequences (Full-length transcript).
>In-frame_DNAJC17_ENST00000220496_chr15_41099567_-_CIB2_ENST00000258930_chr15_78416081_-_1327nt
AGTTGTAGTACGAATCCGTCAGGCCGGAACCATGGCAGTGACCAAGGAGCTCTTACAGATGGACCTGTACGCGCTGCTAGGCATTGAGGA
GAAGGCAGCGGACAAAGAGGACTGCACCTTCTTCAATAAGAAGGACATCCTCAAGCTGCATTCGCGATTCTATGAGCTGGCCCCCAACCT
CGTCCCAATGGACTACAGGAAGAGCCCCATCGTCCACGTGCCCATGAGCCTCATCATCCAGATGCCAGAGCTCCGGGAGAATCCCTTCAA
AGAAAGGATCGTGGCGGCGTTTTCCGAGGATGGTGAGGGGAACCTCACTTTCAACGACTTTGTGGACATGTTTTCCGTGCTCTGCGAGTC
GGCTCCCCGAGAGCTCAAGGCAAACTATGCCTTCAAGATCTATGACTTCAACACTGACAACTTCATCTGCAAGGAGGACCTGGAGCTGAC
GCTGGCCCGGCTCACTAAGTCAGAGCTGGATGAGGAGGAGGTGGTGCTTGTGTGCGACAAGGTCATTGAGGAGGCTGACTTGGACGGTGA
CGGCAAGCTGGGCTTTGCTGACTTCGAGGACATGATTGCCAAGGCCCCTGACTTCCTCAGCACTTTCCACATCCGGATCTGAGGACACTG
CCGAGGCTGTAGGGGCCTAGAAGTCCACCATCCTGCCCTGCAGTCACATGGGTGTGGCCTCCAAGCTCCCCAGGAAAGCAGTGGCAGCCT
CTGGGGTTTACACCACAAATATATCCTGTGGCCCTTTCAGCAAAAAAAAAACCTTAACCAGGAAGGGGGCCTGTGAAGGTTAGGACCCTT
CCCACAGCCCCGCTGTGGTCCAGCCCCGGGACCCATGGCCTCTCTCCAGGCCCTCCGCACCCCGCCCCATGCCCCAGTCCTTTCCTACTC
CAGAAATGCTCCCCACCCCCCCAAAGAGGGAAAAGCAGATAACCCAACAGGAGGTGGTGGGGTCTGACGTGTCCAAGTGCTGGCAGACAC
CCTGGTCACCCAGGACAGAGCGGAAAAAAAAAAAAGAGGTCAGGGTTTTAACGAGCTATGCAATCTTTTTCCAAAACCCAAGGTTGGGCT
GCTTCCCACCCCTGCCTGTTCCCCTTCTCCCGGCCTCCTTCACAATGTGAAGCTGTGGGTGCAGTGGGCCCAAGGGCTCTTGCTCCTGTC
TCTGCCTCTGGGTCATGAGTACCACCCTGCCTGCCTCCCCAACACCGTGGAATCCTCACTGGTGTGCTGTCCACAGATTTGTGAACTCCT


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FusionGenePPI for DNAJC17_CIB2


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
DNAJC17PTH1R, C1orf123, C12orf10, DHX29, ELAC2, HSPA5, KIN, TRMT6, HSPA14, HSPA9, HSPH1, HYOU1, HIST1H2BGCIB2EMC2


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 DNAJC17_CIB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCIB2O75838DB11093Calcium CitrateCalcium and integrin-binding family member 2small moleculeapproved
TgeneCIB2O75838DB11348Calcium PhosphateCalcium and integrin-binding family member 2small moleculeapproved

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RelatedDiseases for DNAJC17_CIB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCIB2C1836199DEAFNESS, AUTOSOMAL RECESSIVE 483UNIPROT
TgeneCIB2C3553944USHER SYNDROME, TYPE IJ1CTD_human;UNIPROT