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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:NHEJ1-HIBCH (FusionGDB2 ID:58712) |
Fusion Gene Summary for NHEJ1-HIBCH |
Fusion gene summary |
Fusion gene information | Fusion gene name: NHEJ1-HIBCH | Fusion gene ID: 58712 | Hgene | Tgene | Gene symbol | NHEJ1 | HIBCH | Gene ID | 79840 | 26275 |
Gene name | non-homologous end joining factor 1 | 3-hydroxyisobutyryl-CoA hydrolase | |
Synonyms | XLF | HIBYLCOAH | |
Cytomap | 2q35 | 2q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | non-homologous end-joining factor 1XRCC4-like factornonhomologous end-joining factor 1protein cernunnos | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial3-hydroxyisobutyryl-Coenzyme A hydrolaseHIB-CoA hydrolaseHIBYL-CoA-Htesticular tissue protein Li 86 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q9H9Q4 | Q6NVY1 | |
Ensembl transtripts involved in fusion gene | ENST00000409720, ENST00000356853, ENST00000483627, | ENST00000392332, ENST00000359678, ENST00000410045, ENST00000486981, | |
Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 4 X 3 X 4=48 |
# samples | 4 | 4 | |
** MAII score | log2(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 breakpoint | NHEJ1(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NHEJ1 | GO:0010212 | response to ionizing radiation | 16439205 |
Fusion 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. |
Fusion 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. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | PAAD | TCGA-IB-7654-01A | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
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Fusion Gene ORF analysis for NHEJ1-HIBCH |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000409720 | ENST00000392332 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
In-frame | ENST00000409720 | ENST00000359678 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
In-frame | ENST00000409720 | ENST00000410045 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
5CDS-5UTR | ENST00000409720 | ENST00000486981 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
Frame-shift | ENST00000356853 | ENST00000392332 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
Frame-shift | ENST00000356853 | ENST00000359678 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
Frame-shift | ENST00000356853 | ENST00000410045 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
5CDS-5UTR | ENST00000356853 | ENST00000486981 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
intron-3CDS | ENST00000483627 | ENST00000392332 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
intron-3CDS | ENST00000483627 | ENST00000359678 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
intron-3CDS | ENST00000483627 | ENST00000410045 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
intron-5UTR | ENST00000483627 | ENST00000486981 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000409720 | NHEJ1 | chr2 | 220011402 | - | ENST00000392332 | HIBCH | chr2 | 191077801 | - | 2020 | 588 | 0 | 713 | 237 |
ENST00000409720 | NHEJ1 | chr2 | 220011402 | - | ENST00000359678 | HIBCH | chr2 | 191077801 | - | 1341 | 588 | 0 | 857 | 285 |
ENST00000409720 | NHEJ1 | chr2 | 220011402 | - | ENST00000410045 | HIBCH | chr2 | 191077801 | - | 960 | 588 | 0 | 857 | 285 |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000409720 | ENST00000392332 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - | 0.001357901 | 0.99864215 |
ENST00000409720 | ENST00000359678 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - | 0.00113675 | 0.9988632 |
ENST00000409720 | ENST00000410045 | NHEJ1 | chr2 | 220011402 | - | HIBCH | chr2 | 191077801 | - | 0.004985408 | 0.9950146 |
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Fusion Genomic Features for NHEJ1-HIBCH |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution 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. |
Distribution 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 |
Go to FGviewer for the breakpoints of 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
NHEJ1 | HIBCH |
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}. |
Retention 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 * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | NHEJ1 | chr2:220011402 | chr2:191077801 | ENST00000356853 | - | 5 | 8 | 128_170 | 196.0 | 300.0 | Coiled coil | Ontology_term=ECO:0000269 |
Hgene | NHEJ1 | chr2:220011402 | chr2:191077801 | ENST00000409720 | - | 4 | 7 | 128_170 | 196.0 | 317.0 | Coiled coil | Ontology_term=ECO:0000269 |
Hgene | NHEJ1 | chr2:220011402 | chr2:191077801 | ENST00000356853 | - | 5 | 8 | 1_135 | 196.0 | 300.0 | Region | Note=Globular head |
Hgene | NHEJ1 | chr2:220011402 | chr2:191077801 | ENST00000409720 | - | 4 | 7 | 1_135 | 196.0 | 317.0 | Region | Note=Globular head |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for NHEJ1-HIBCH |
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. |
>In-frame_ENST00000409720_ENST00000392332_TCGA-IB-7654-01A_NHEJ1_chr2_220011402_-_HIBCH_chr2_191077801_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 >In-frame_ENST00000409720_ENST00000392332_TCGA-IB-7654-01A_NHEJ1_chr2_220011402_-_HIBCH_chr2_191077801_length(amino acids)=237AA_start in transcript=0_stop in transcript=713 MEELEQGLLMQPWAWLQLAENSLLAKVFITKQGYALLVSDLQQVWHEQVDTSVVSQRAKELNKRLTAPPAAFLCHLDNLLRPLLKDAAHP SEATFSCDCVADALILRVRSELSGLPFYWNFHCMLASPSLVSQHLIRPLMGMSLALQCQVRELATLLHMKDLEIQDYQESGATLIRDRLK -------------------------------------------------------------- >In-frame_ENST00000409720_ENST00000359678_TCGA-IB-7654-01A_NHEJ1_chr2_220011402_-_HIBCH_chr2_191077801_length(transcript)=1341nt_BP=588nt ATGGAAGAACTGGAGCAAGGCCTGTTGATGCAGCCATGGGCGTGGCTACAGCTTGCAGAGAACTCCCTCTTGGCCAAGGTTTTTATCACC AAGCAGGGCTATGCCTTGTTGGTTTCAGATCTTCAACAGGTGTGGCATGAACAGGTGGACACTAGTGTGGTCAGCCAGCGAGCCAAGGAG CTGAACAAGCGGCTCACTGCTCCTCCTGCAGCTTTCCTCTGTCATTTGGATAATCTCCTTCGCCCATTGTTGAAGGACGCTGCTCACCCT AGCGAAGCTACCTTCTCCTGTGATTGTGTGGCAGATGCACTGATTCTACGGGTGCGAAGTGAGCTCTCTGGCCTCCCCTTCTATTGGAAT TTCCACTGCATGCTAGCTAGTCCTTCCCTGGTCTCCCAACATTTGATTCGTCCTCTGATGGGCATGAGTCTGGCATTACAGTGCCAAGTG AGGGAGCTAGCAACGTTACTTCATATGAAAGACCTAGAGATCCAAGACTACCAGGAGAGTGGGGCTACGCTGATTCGAGATCGATTGAAG ACAGAACCATTTGAAGAAAATTCCTTCTTGGAACAATTTATGATAGAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTA AGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGAC TTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGAT TTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCA ATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGG AAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTT ATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTC AGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGG >In-frame_ENST00000409720_ENST00000359678_TCGA-IB-7654-01A_NHEJ1_chr2_220011402_-_HIBCH_chr2_191077801_length(amino acids)=285AA_start in transcript=0_stop in transcript=857 MEELEQGLLMQPWAWLQLAENSLLAKVFITKQGYALLVSDLQQVWHEQVDTSVVSQRAKELNKRLTAPPAAFLCHLDNLLRPLLKDAAHP SEATFSCDCVADALILRVRSELSGLPFYWNFHCMLASPSLVSQHLIRPLMGMSLALQCQVRELATLLHMKDLEIQDYQESGATLIRDRLK TEPFEENSFLEQFMIEVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEED -------------------------------------------------------------- >In-frame_ENST00000409720_ENST00000410045_TCGA-IB-7654-01A_NHEJ1_chr2_220011402_-_HIBCH_chr2_191077801_length(transcript)=960nt_BP=588nt ATGGAAGAACTGGAGCAAGGCCTGTTGATGCAGCCATGGGCGTGGCTACAGCTTGCAGAGAACTCCCTCTTGGCCAAGGTTTTTATCACC AAGCAGGGCTATGCCTTGTTGGTTTCAGATCTTCAACAGGTGTGGCATGAACAGGTGGACACTAGTGTGGTCAGCCAGCGAGCCAAGGAG CTGAACAAGCGGCTCACTGCTCCTCCTGCAGCTTTCCTCTGTCATTTGGATAATCTCCTTCGCCCATTGTTGAAGGACGCTGCTCACCCT AGCGAAGCTACCTTCTCCTGTGATTGTGTGGCAGATGCACTGATTCTACGGGTGCGAAGTGAGCTCTCTGGCCTCCCCTTCTATTGGAAT TTCCACTGCATGCTAGCTAGTCCTTCCCTGGTCTCCCAACATTTGATTCGTCCTCTGATGGGCATGAGTCTGGCATTACAGTGCCAAGTG AGGGAGCTAGCAACGTTACTTCATATGAAAGACCTAGAGATCCAAGACTACCAGGAGAGTGGGGCTACGCTGATTCGAGATCGATTGAAG ACAGAACCATTTGAAGAAAATTCCTTCTTGGAACAATTTATGATAGAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTA AGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGAC TTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGAT TTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCA >In-frame_ENST00000409720_ENST00000410045_TCGA-IB-7654-01A_NHEJ1_chr2_220011402_-_HIBCH_chr2_191077801_length(amino acids)=285AA_start in transcript=0_stop in transcript=857 MEELEQGLLMQPWAWLQLAENSLLAKVFITKQGYALLVSDLQQVWHEQVDTSVVSQRAKELNKRLTAPPAAFLCHLDNLLRPLLKDAAHP SEATFSCDCVADALILRVRSELSGLPFYWNFHCMLASPSLVSQHLIRPLMGMSLALQCQVRELATLLHMKDLEIQDYQESGATLIRDRLK TEPFEENSFLEQFMIEVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEED -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for NHEJ1-HIBCH |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for NHEJ1-HIBCH |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NHEJ1-HIBCH |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NHEJ1 | C1969799 | Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | HIBCH | C0342738 | Beta-Hydroxyisobutyryl CoA Deacylase Deficiency | 9 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | HIBCH | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | HIBCH | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |