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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: 25621

FusionGeneSummary for OTUD4_CHCHD2

check button Fusion gene summary
Fusion gene informationFusion gene name: OTUD4_CHCHD2
Fusion gene ID: 25621
HgeneTgene
Gene symbol

OTUD4

CHCHD2

Gene ID

54726

51142

Gene nameOTU deubiquitinase 4coiled-coil-helix-coiled-coil-helix domain containing 2
SynonymsDUBA6|HIN1|HSHIN1C7orf17|MIX17B|MNRR1|NS2TP|PARK22
Cytomap

4q31.21

7p11.2

Type of geneprotein-codingprotein-coding
DescriptionOTU domain-containing protein 4HIV-1 induced protein HIN-1coiled-coil-helix-coiled-coil-helix domain-containing protein 216.7kD proteinHCV NS2 trans-regulated proteinMIX17 homolog Baging-associated gene 10 proteincoiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrialmitochondria nuc
Modification date2018052220180527
UniProtAcc

Q01804

Q9Y6H1

Ensembl transtripts involved in fusion geneENST00000455611, ENST00000454497, 
ENST00000447906, ENST00000509620, 
ENST00000296579, 
ENST00000395422, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 2=8
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: OTUD4 [Title/Abstract] AND CHCHD2 [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
HgeneOTUD4

GO:0034122

negative regulation of toll-like receptor signaling pathway

29395066

HgeneOTUD4

GO:0070536

protein K63-linked deubiquitination

29395066

HgeneOTUD4

GO:0071108

protein K48-linked deubiquitination

23827681

HgeneOTUD4

GO:1901537

positive regulation of DNA demethylation

25944111

HgeneOTUD4

GO:1903093

regulation of protein K48-linked deubiquitination

25944111

HgeneOTUD4

GO:2000660

negative regulation of interleukin-1-mediated signaling pathway

29395066

TgeneCHCHD2

GO:0045944

positive regulation of transcription by RNA polymerase II

23303788

TgeneCHCHD2

GO:1900037

regulation of cellular response to hypoxia

23303788


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
TCGALDBLCATCGA-FD-A3B7-01AOTUD4chr4

146080655

-CHCHD2chr7

56172168

-
* 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
5UTR-3CDSENST00000455611ENST00000395422OTUD4chr4

146080655

-CHCHD2chr7

56172168

-
Frame-shiftENST00000454497ENST00000395422OTUD4chr4

146080655

-CHCHD2chr7

56172168

-
In-frameENST00000447906ENST00000395422OTUD4chr4

146080655

-CHCHD2chr7

56172168

-
intron-3CDSENST00000509620ENST00000395422OTUD4chr4

146080655

-CHCHD2chr7

56172168

-
intron-3CDSENST00000296579ENST00000395422OTUD4chr4

146080655

-CHCHD2chr7

56172168

-

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FusionProtFeatures for OTUD4_CHCHD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OTUD4

Q01804

CHCHD2

Q9Y6H1

Deubiquitinase which hydrolyzes the isopeptide bondbetween the ubiquitin C-terminus and the lysine epsilon-aminogroup of the target protein (PubMed:23827681, PubMed:25944111,PubMed:29395066). May negatively regulate inflammatory andpathogen recognition signaling in innate immune response. Uponphosphorylation at Ser-202 and Ser-204 residues, via IL-1 receptorand Toll-like receptor signaling pathway, specificallydeubiquitinates 'Lys-63'-polyubiquitinated MYD88 adapter proteintriggering down-regulation of NF-kappa-B-dependent transcriptionof inflammatory mediators (PubMed:29395066). Independently of thecatalytic activity, acts as a scaffold for alternativedeubiquitinases to assemble specific deubiquitinase-substratecomplexes. Associates with USP7 and USP9X deubiquitinases tostabilize alkylation repair enzyme ALKBH3, thereby promoting therepair of alkylated DNA lesions (PubMed:25944111).{ECO:0000269|PubMed:23827681, ECO:0000269|PubMed:25944111,ECO:0000269|PubMed:29395066}. Transcription factor. Binds to the oxygen responsiveelement of COX4I2 and activates its transcription under hypoxiaconditions (4% oxygen), as well as normoxia conditions (20%oxygen) (PubMed:23303788). {ECO:0000269|PubMed:23303788}.

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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FusionGeneSequence for OTUD4_CHCHD2


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_OTUD4_ENST00000447906_chr4_146080655_-_CHCHD2_ENST00000395422_chr7_56172168_-_345aa
MEAAVGVPDGGDQGGAGPREDATPMDAYLRKLGLYRKLVAKDGSCLFRAVAEQVLHSQSRHVEVRMACIHYLRENREKFEAFIEGSFEEY
LKRLENPQEWVGQVEISALSLMYRKDFIIYREPNVSPSQVTENNFPEKVLLCFSNGNHYDIVYPIKYKESSAMCQSLLYELLYEKVFKTD
VSKIVMELDTLEVADEDNSEISDSEDDSCNRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHTLG


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_OTUD4_ENST00000447906_chr4_146080655_-_CHCHD2_ENST00000395422_chr7_56172168_-_1035nt
ATGGAGGCTGCCGTCGGCGTCCCCGACGGCGGGGACCAGGGCGGCGCGGGGCCCCGCGAGGACGCGACGCCCATGGACGCCTATCTGCGG
AAACTGGGCTTGTATCGGAAACTGGTCGCCAAGGACGGGTCGTGCCTGTTCCGGGCCGTGGCGGAGCAGGTATTGCACTCTCAGTCTCGC
CATGTTGAAGTCAGAATGGCCTGTATTCACTATCTTCGAGAGAACAGAGAGAAATTTGAAGCGTTTATAGAAGGATCATTTGAAGAATAT
TTAAAGCGTTTGGAAAATCCACAGGAATGGGTAGGACAAGTGGAAATAAGTGCCCTTTCTCTTATGTACAGGAAAGATTTTATAATTTAT
CGGGAACCAAATGTTTCTCCTTCACAAGTAACAGAAAATAATTTTCCTGAAAAGGTGTTACTGTGTTTTTCAAATGGAAATCATTATGAT
ATTGTGTATCCCATAAAGTATAAAGAAAGCTCTGCTATGTGTCAGTCTCTCCTTTATGAATTGCTGTATGAGAAGGTATTTAAAACTGAT
GTTAGTAAAATTGTGATGGAACTAGACACGTTGGAAGTAGCTGATGAAGATAACAGTGAAATATCAGATTCAGAGGATGACAGTTGCAAC
CGGGCCCCTCAGATGAGAGCTGCACCCAGGCCAGCACCAGTCGCTCAGCCACCAGCAGCGGCACCCCCATCTGCAGTTGGCTCTTCTGCT
GCTGCGCCCCGGCAGCCAGGTCTGATGGCCCAGATGGCAACCACTGCAGCTGGCGTGGCTGTGGGCTCTGCTGTGGGGCACACATTGGGT
CACGCCATTACTGGGGGCTTCAGTGGAGGAAGTAATGCTGAGCCTGCGAGGCCTGACATCACTTACCAGGAGCCTCAGGGAACCCAGCCA
GCACAGCAGCAGCAGCCTTGCCTCTATGAGATCAAACAGTTTCTGGAGTGTGCCCAGAACCAGGGTGACATCAAGCTCTGTGAGGGTTTC


* Fusion transcript sequences (Full-length transcript).
>In-frame_OTUD4_ENST00000447906_chr4_146080655_-_CHCHD2_ENST00000395422_chr7_56172168_-_1505nt
GGCAGGGCTTCCCTATGCGCCCGGAGAGCGCGGACCGCTGCCTCGGGCCGCCGCCGCCTGCCGCCGCTCGCGGAGCCCGAGCCCCAGCCC
GAGCCGCCGCCTGCCCCAGGCCGGGGCGTCGAGCAGCCGGCGGCCTGGCCATGTGGGGCTAGCCCTCGCCGCGCCTGGCCTGCAGCAGGA
CCAGCAACATGGAGGCTGCCGTCGGCGTCCCCGACGGCGGGGACCAGGGCGGCGCGGGGCCCCGCGAGGACGCGACGCCCATGGACGCCT
ATCTGCGGAAACTGGGCTTGTATCGGAAACTGGTCGCCAAGGACGGGTCGTGCCTGTTCCGGGCCGTGGCGGAGCAGGTATTGCACTCTC
AGTCTCGCCATGTTGAAGTCAGAATGGCCTGTATTCACTATCTTCGAGAGAACAGAGAGAAATTTGAAGCGTTTATAGAAGGATCATTTG
AAGAATATTTAAAGCGTTTGGAAAATCCACAGGAATGGGTAGGACAAGTGGAAATAAGTGCCCTTTCTCTTATGTACAGGAAAGATTTTA
TAATTTATCGGGAACCAAATGTTTCTCCTTCACAAGTAACAGAAAATAATTTTCCTGAAAAGGTGTTACTGTGTTTTTCAAATGGAAATC
ATTATGATATTGTGTATCCCATAAAGTATAAAGAAAGCTCTGCTATGTGTCAGTCTCTCCTTTATGAATTGCTGTATGAGAAGGTATTTA
AAACTGATGTTAGTAAAATTGTGATGGAACTAGACACGTTGGAAGTAGCTGATGAAGATAACAGTGAAATATCAGATTCAGAGGATGACA
GTTGCAACCGGGCCCCTCAGATGAGAGCTGCACCCAGGCCAGCACCAGTCGCTCAGCCACCAGCAGCGGCACCCCCATCTGCAGTTGGCT
CTTCTGCTGCTGCGCCCCGGCAGCCAGGTCTGATGGCCCAGATGGCAACCACTGCAGCTGGCGTGGCTGTGGGCTCTGCTGTGGGGCACA
CATTGGGTCACGCCATTACTGGGGGCTTCAGTGGAGGAAGTAATGCTGAGCCTGCGAGGCCTGACATCACTTACCAGGAGCCTCAGGGAA
CCCAGCCAGCACAGCAGCAGCAGCCTTGCCTCTATGAGATCAAACAGTTTCTGGAGTGTGCCCAGAACCAGGGTGACATCAAGCTCTGTG
AGGGTTTCAATGAGGTGCTGAAACAGTGCCGACTTGCAAACGGATTGGCCTAATGAAGAAGTTCAACCTGGAGAGATGGAAAATCAGCTC
TCATAACTAAGTTAATTTAGTATAAAAATAGAATTGATAGTGAGGGTATAAAGTGTAACCATCAGTTAAACCTCTCCTGTCATTCCTGGC
TTCCTTGCTTCAGAATTGAAATGGAAGTGGGGGTGTCCCTACTCTGTAGAATCTGGGACTGGGCAAATGTTTGTGTGGCCTCCTTAAACT


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FusionGenePPI for OTUD4_CHCHD2


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
OTUD4ATG12, ILK, RUNX1T1, CLEC3B, BRF2, DSG1, FLNC, GALK1, GLA, DNAJB1, KRT8, KRT31, KRT33B, KRT85, MOG, OAT, TUBA1A, KRT36, FXR2, NPEPPS, BAG5, GPHN, MYCBP, NMD3, PARP11, RPTN, AGO3, GRK5, FMNL1, UBC, REL, STAT1, TCF4, EXOSC8, WBP2NL, RBFOX2, LHX6, XPO1, HIST1H3E, HSF2, PRPF4, GAR1, NAF1, ALKBH3, ALKBH2, USP7, USP9X, TRAF1, RC3H1, DUSP10, FAN1, TPTE2, VTN, HTRA4, C4orf26, KIAA1683, TSPYL6, CYLDCHCHD2SIRT1, RPL24, DSG2, ABCC2, COX5B, GOLGA2, KRT31, REL, TCF4, EHMT2, IKZF3, ADAMTSL4, TRIM54, LHX4, KRT40, INCA1, CHST8, ATP5H, CHCHD6, KHSRP, NDUFA8, TOMM40, PPA2, TREX1, CHCHD10, CLPX, NRD1, CHCHD2, RNASEH1, IDE, TRMT10C, GRSF1, PDE12, C15orf48, THG1L, COQ9, PTPMT1, CISD3, POLDIP2, PMPCA, PMPCB, C17orf89, PAK7, ADCK3, TIMM44, FAM136A, SPATA20, LYRM4, COQ7, FARS2, DHRS4, PITRM1, PTRH2, COX6C, ADCK5, AFG3L2, COX6A1, C1QBP, COQ6, GLRX5, NDUFS3, GHITM, TIMM50, ECH1, ADCK4, UQCC2, C2orf47, TRMT1, ADCK1, NDUFA4, COQ4, ATP5F1, LACE1, C7orf55, NME4, ATP5A1, XPNPEP3, POLRMT, USMG5, LYRM5, YBEY, NARS2, COQ10B, TMEM126A, NIPSNAP1, APOOL, FKBP10, ATP5J, COQ3, ATP5C1, COX5A, SPRYD4, SARS2, FOXD4, BHLHA15, PRPF3, PRPF4, ALYREF, PDHA1, SDHA, SOD1


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 OTUD4_CHCHD2


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 OTUD4_CHCHD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCHCHD2C4225238PARKINSON DISEASE 22, AUTOSOMAL DOMINANT1UNIPROT