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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:NHEJ1-HIBCH (FusionGDB2 ID:59069)

Fusion Gene Summary for NHEJ1-HIBCH

check button Fusion gene summary
Fusion gene informationFusion gene name: NHEJ1-HIBCH
Fusion gene ID: 59069
HgeneTgene
Gene symbol

NHEJ1

HIBCH

Gene ID

79840

26275

Gene namenon-homologous end joining factor 13-hydroxyisobutyryl-CoA hydrolase
SynonymsXLFHIBYLCOAH
Cytomap

2q35

2q32.2

Type of geneprotein-codingprotein-coding
Descriptionnon-homologous end-joining factor 1XRCC4-like factornonhomologous end-joining factor 1protein cernunnos3-hydroxyisobutyryl-CoA hydrolase, mitochondrial3-hydroxyisobutyryl-Coenzyme A hydrolaseHIB-CoA hydrolaseHIBYL-CoA-Htesticular tissue protein Li 86
Modification date2020031320200313
UniProtAcc

Q9H9Q4

Q6NVY1

Ensembl transtripts involved in fusion geneENST00000356853, ENST00000409720, 
ENST00000483627, 
ENST00000486981, 
ENST00000359678, ENST00000392332, 
ENST00000410045, 
Fusion gene scores* DoF score4 X 4 X 4=644 X 3 X 4=48
# samples 44
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NHEJ1 [Title/Abstract] AND HIBCH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNHEJ1(220011402)-HIBCH(191077801), # samples:1
Anticipated loss of major functional domain due to fusion event.NHEJ1-HIBCH seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* 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
HgeneNHEJ1

GO:0010212

response to ionizing radiation

16439205


check buttonFusion gene breakpoints across NHEJ1 (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 HIBCH (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
ChimerDB4PAADTCGA-IB-7654-01ANHEJ1chr2

220011402

-HIBCHchr2

191077801

-


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Fusion Gene ORF analysis for NHEJ1-HIBCH

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-5UTRENST00000356853ENST00000486981NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
5CDS-5UTRENST00000409720ENST00000486981NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
Frame-shiftENST00000356853ENST00000359678NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
Frame-shiftENST00000356853ENST00000392332NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
Frame-shiftENST00000356853ENST00000410045NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
In-frameENST00000409720ENST00000359678NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
In-frameENST00000409720ENST00000392332NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
In-frameENST00000409720ENST00000410045NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
intron-3CDSENST00000483627ENST00000359678NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
intron-3CDSENST00000483627ENST00000392332NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
intron-3CDSENST00000483627ENST00000410045NHEJ1chr2

220011402

-HIBCHchr2

191077801

-
intron-5UTRENST00000483627ENST00000486981NHEJ1chr2

220011402

-HIBCHchr2

191077801

-

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)
ENST00000409720NHEJ1chr2220011402-ENST00000392332HIBCHchr2191077801-20205880713237
ENST00000409720NHEJ1chr2220011402-ENST00000359678HIBCHchr2191077801-13415880857285
ENST00000409720NHEJ1chr2220011402-ENST00000410045HIBCHchr2191077801-9605880857285

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
ENST00000409720ENST00000392332NHEJ1chr2220011402-HIBCHchr2191077801-0.0013579010.99864215
ENST00000409720ENST00000359678NHEJ1chr2220011402-HIBCHchr2191077801-0.001136750.9988632
ENST00000409720ENST00000410045NHEJ1chr2220011402-HIBCHchr2191077801-0.0049854080.9950146

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Fusion Genomic Features for NHEJ1-HIBCH


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 NHEJ1-HIBCH


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/chr2:220011402/chr2:191077801)
- 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
NHEJ1

Q9H9Q4

HIBCH

Q6NVY1

FUNCTION: DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary (PubMed:16439204, PubMed:16439205, PubMed:17470781). Binds DNA in a length-dependent manner (PubMed:17317666). {ECO:0000269|PubMed:16439204, ECO:0000269|PubMed:16439205, ECO:0000269|PubMed:17317666, ECO:0000269|PubMed:17470781}.FUNCTION: Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. {ECO:0000269|PubMed:8824301}.

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
HgeneNHEJ1chr2:220011402chr2:191077801ENST00000356853-58128_170196300.0Coiled coilOntology_term=ECO:0000269
HgeneNHEJ1chr2:220011402chr2:191077801ENST00000409720-47128_170196317.0Coiled coilOntology_term=ECO:0000269
HgeneNHEJ1chr2:220011402chr2:191077801ENST00000356853-581_135196300.0RegionNote=Globular head
HgeneNHEJ1chr2:220011402chr2:191077801ENST00000409720-471_135196317.0RegionNote=Globular head

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for NHEJ1-HIBCH


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.
>59069_59069_1_NHEJ1-HIBCH_NHEJ1_chr2_220011402_ENST00000409720_HIBCH_chr2_191077801_ENST00000359678_length(transcript)=1341nt_BP=588nt
ATGGAAGAACTGGAGCAAGGCCTGTTGATGCAGCCATGGGCGTGGCTACAGCTTGCAGAGAACTCCCTCTTGGCCAAGGTTTTTATCACC
AAGCAGGGCTATGCCTTGTTGGTTTCAGATCTTCAACAGGTGTGGCATGAACAGGTGGACACTAGTGTGGTCAGCCAGCGAGCCAAGGAG
CTGAACAAGCGGCTCACTGCTCCTCCTGCAGCTTTCCTCTGTCATTTGGATAATCTCCTTCGCCCATTGTTGAAGGACGCTGCTCACCCT
AGCGAAGCTACCTTCTCCTGTGATTGTGTGGCAGATGCACTGATTCTACGGGTGCGAAGTGAGCTCTCTGGCCTCCCCTTCTATTGGAAT
TTCCACTGCATGCTAGCTAGTCCTTCCCTGGTCTCCCAACATTTGATTCGTCCTCTGATGGGCATGAGTCTGGCATTACAGTGCCAAGTG
AGGGAGCTAGCAACGTTACTTCATATGAAAGACCTAGAGATCCAAGACTACCAGGAGAGTGGGGCTACGCTGATTCGAGATCGATTGAAG
ACAGAACCATTTGAAGAAAATTCCTTCTTGGAACAATTTATGATAGAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTA
AGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGAC
TTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGAT
TTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCA
ATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGG
AAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTT
ATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTC
AGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGG

>59069_59069_1_NHEJ1-HIBCH_NHEJ1_chr2_220011402_ENST00000409720_HIBCH_chr2_191077801_ENST00000359678_length(amino acids)=285AA_BP=196
MEELEQGLLMQPWAWLQLAENSLLAKVFITKQGYALLVSDLQQVWHEQVDTSVVSQRAKELNKRLTAPPAAFLCHLDNLLRPLLKDAAHP
SEATFSCDCVADALILRVRSELSGLPFYWNFHCMLASPSLVSQHLIRPLMGMSLALQCQVRELATLLHMKDLEIQDYQESGATLIRDRLK
TEPFEENSFLEQFMIEVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEED

--------------------------------------------------------------
>59069_59069_2_NHEJ1-HIBCH_NHEJ1_chr2_220011402_ENST00000409720_HIBCH_chr2_191077801_ENST00000392332_length(transcript)=2020nt_BP=588nt
ATGGAAGAACTGGAGCAAGGCCTGTTGATGCAGCCATGGGCGTGGCTACAGCTTGCAGAGAACTCCCTCTTGGCCAAGGTTTTTATCACC
AAGCAGGGCTATGCCTTGTTGGTTTCAGATCTTCAACAGGTGTGGCATGAACAGGTGGACACTAGTGTGGTCAGCCAGCGAGCCAAGGAG
CTGAACAAGCGGCTCACTGCTCCTCCTGCAGCTTTCCTCTGTCATTTGGATAATCTCCTTCGCCCATTGTTGAAGGACGCTGCTCACCCT
AGCGAAGCTACCTTCTCCTGTGATTGTGTGGCAGATGCACTGATTCTACGGGTGCGAAGTGAGCTCTCTGGCCTCCCCTTCTATTGGAAT
TTCCACTGCATGCTAGCTAGTCCTTCCCTGGTCTCCCAACATTTGATTCGTCCTCTGATGGGCATGAGTCTGGCATTACAGTGCCAAGTG
AGGGAGCTAGCAACGTTACTTCATATGAAAGACCTAGAGATCCAAGACTACCAGGAGAGTGGGGCTACGCTGATTCGAGATCGATTGAAG
ACAGAACCATTTGAAGAAAATTCCTTCTTGGAACAATTTATGATAGAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTA
AGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGTTTTAATTGATA
AAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTG
ATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGC
CTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGA
AAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGT
TGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGAT
GGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAA
CTTAGGTATACAATATAAAAAATAAAGACCCTGAAAATTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTTGTTTTGGATACTGTG
TTAATGCCTCATAGAATTTTCTCCATATATGAGTGTGTTTTAAAGTAACTGAGTTACTGTAGCAGAAGAGCTCCTTTTATAAACATTAGA
AACCTTGGGCAGAGAGAAAAGATTTTTATTAACGTCCCTCTTCAGTATTAACTCAGACTTGGTCTTCCCTAAAATAATCAGAATACCATC
CCATGGTGAAACTGAAAGGATTATTTTCTTGTTATTTGTGATATTTGTTAATCTGGTAGAATGAGAAATTAGGAAACTCCAATCTCTTAG
ATAGAGACACTCTGTTTTTTTATAATTTACGTAAGACTTTTGTGTGATAATTATCCTTACAAACAAGGTTCAAGTCAGGAGAAAAAAATT
AATTGAAAGCAAGAAGACTTTTGTTCAAAAGATATATTCAATAATTGATATTGTTAATGAAGTAAGTACTTTTTAAGGTATGAAAGAACT
AAAAGGTATTCCAGACTCAGAACCTTAAAGTTCTAGGCAAGAATAATTTTTAAACTAAAGGTAAGTTTATAAATTAACAAAGTAAACAAA
ATTTATGATTTTGTTTTTTGTTTGTAATTTTTGTTTAATTTTAAAGGTAAGTTTATAAATTAACAAACAAAATTTATAATTTTTTGTTTG

>59069_59069_2_NHEJ1-HIBCH_NHEJ1_chr2_220011402_ENST00000409720_HIBCH_chr2_191077801_ENST00000392332_length(amino acids)=237AA_BP=196
MEELEQGLLMQPWAWLQLAENSLLAKVFITKQGYALLVSDLQQVWHEQVDTSVVSQRAKELNKRLTAPPAAFLCHLDNLLRPLLKDAAHP
SEATFSCDCVADALILRVRSELSGLPFYWNFHCMLASPSLVSQHLIRPLMGMSLALQCQVRELATLLHMKDLEIQDYQESGATLIRDRLK

--------------------------------------------------------------
>59069_59069_3_NHEJ1-HIBCH_NHEJ1_chr2_220011402_ENST00000409720_HIBCH_chr2_191077801_ENST00000410045_length(transcript)=960nt_BP=588nt
ATGGAAGAACTGGAGCAAGGCCTGTTGATGCAGCCATGGGCGTGGCTACAGCTTGCAGAGAACTCCCTCTTGGCCAAGGTTTTTATCACC
AAGCAGGGCTATGCCTTGTTGGTTTCAGATCTTCAACAGGTGTGGCATGAACAGGTGGACACTAGTGTGGTCAGCCAGCGAGCCAAGGAG
CTGAACAAGCGGCTCACTGCTCCTCCTGCAGCTTTCCTCTGTCATTTGGATAATCTCCTTCGCCCATTGTTGAAGGACGCTGCTCACCCT
AGCGAAGCTACCTTCTCCTGTGATTGTGTGGCAGATGCACTGATTCTACGGGTGCGAAGTGAGCTCTCTGGCCTCCCCTTCTATTGGAAT
TTCCACTGCATGCTAGCTAGTCCTTCCCTGGTCTCCCAACATTTGATTCGTCCTCTGATGGGCATGAGTCTGGCATTACAGTGCCAAGTG
AGGGAGCTAGCAACGTTACTTCATATGAAAGACCTAGAGATCCAAGACTACCAGGAGAGTGGGGCTACGCTGATTCGAGATCGATTGAAG
ACAGAACCATTTGAAGAAAATTCCTTCTTGGAACAATTTATGATAGAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTA
AGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGAC
TTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGAT
TTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCA

>59069_59069_3_NHEJ1-HIBCH_NHEJ1_chr2_220011402_ENST00000409720_HIBCH_chr2_191077801_ENST00000410045_length(amino acids)=285AA_BP=196
MEELEQGLLMQPWAWLQLAENSLLAKVFITKQGYALLVSDLQQVWHEQVDTSVVSQRAKELNKRLTAPPAAFLCHLDNLLRPLLKDAAHP
SEATFSCDCVADALILRVRSELSGLPFYWNFHCMLASPSLVSQHLIRPLMGMSLALQCQVRELATLLHMKDLEIQDYQESGATLIRDRLK
TEPFEENSFLEQFMIEVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEED

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

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Fusion Gene PPI Analysis for NHEJ1-HIBCH


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 NHEJ1-HIBCH


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 NHEJ1-HIBCH


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