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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:HLCS-IL10RB (FusionGDB2 ID:36581) |
Fusion Gene Summary for HLCS-IL10RB |
Fusion gene summary |
Fusion gene information | Fusion gene name: HLCS-IL10RB | Fusion gene ID: 36581 | Hgene | Tgene | Gene symbol | HLCS | IL10RB | Gene ID | 3141 | 3588 |
Gene name | holocarboxylase synthetase | interleukin 10 receptor subunit beta | |
Synonyms | HCS | CDW210B|CRF2-4|CRFB4|D21S58|D21S66|IL-10R2 | |
Cytomap | 21q22.13 | 21q22.11 | |
Type of gene | protein-coding | protein-coding | |
Description | biotin--protein ligasebiotin apo-protein ligasebiotin--[acetyl-CoA-carboxylase] ligasebiotin--[methylcrotonoyl-CoA-carboxylase] ligasebiotin--[methylmalonyl-CoA-carboxytransferase] ligaseholocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase | interleukin-10 receptor subunit betaIL-10 receptor subunit betaIL-10R subunit 2IL-10R subunit betaIL-10RBcytokine receptor class-II CRF2-4cytokine receptor class-II member 4cytokine receptor family 2 member 4cytokine receptor family II, member 4i | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q08334 | |
Ensembl transtripts involved in fusion gene | ENST00000336648, ENST00000399120, ENST00000482273, | ENST00000290200, | |
Fusion gene scores | * DoF score | 17 X 9 X 9=1377 | 9 X 10 X 5=450 |
# samples | 17 | 10 | |
** MAII score | log2(17/1377*10)=-3.01792190799726 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/450*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: HLCS [Title/Abstract] AND IL10RB [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | HLCS(38269160)-IL10RB(34660409), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | HLCS-IL10RB seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. HLCS-IL10RB seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. HLCS-IL10RB seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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 | HLCS | GO:0009305 | protein biotinylation | 7842009 |
Hgene | HLCS | GO:0016570 | histone modification | 14613969 |
Hgene | HLCS | GO:0070781 | response to biotin | 17904341 |
Hgene | HLCS | GO:0071110 | histone biotinylation | 14613969 |
Tgene | IL10RB | GO:0046427 | positive regulation of JAK-STAT cascade | 16982608 |
Fusion gene breakpoints across HLCS (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 IL10RB (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 | BRCA | TCGA-BH-A1EY-01A | HLCS | chr21 | 38269160 | - | IL10RB | chr21 | 34660409 | + |
ChimerDB4 | BRCA | TCGA-BH-A1EY-01A | HLCS | chr21 | 38269160 | - | IL10RB | chr21 | 34660409 | + |
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Fusion Gene ORF analysis for HLCS-IL10RB |
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 |
Frame-shift | ENST00000336648 | ENST00000290200 | HLCS | chr21 | 38269160 | - | IL10RB | chr21 | 34660409 | + |
In-frame | ENST00000399120 | ENST00000290200 | HLCS | chr21 | 38269160 | - | IL10RB | chr21 | 34660409 | + |
intron-3CDS | ENST00000482273 | ENST00000290200 | HLCS | chr21 | 38269160 | - | IL10RB | chr21 | 34660409 | + |
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) |
ENST00000399120 | HLCS | chr21 | 38269160 | - | ENST00000290200 | IL10RB | chr21 | 34660409 | + | 3891 | 2682 | 1144 | 2811 | 555 |
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 |
ENST00000399120 | ENST00000290200 | HLCS | chr21 | 38269160 | - | IL10RB | chr21 | 34660409 | + | 0.001701267 | 0.9982987 |
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Fusion Genomic Features for HLCS-IL10RB |
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) |
HLCS | chr21 | 38269159 | - | IL10RB | chr21 | 34660408 | + | 2.92E-06 | 0.99999714 |
HLCS | chr21 | 38269159 | - | IL10RB | chr21 | 34660408 | + | 2.92E-06 | 0.99999714 |
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 HLCS-IL10RB |
Go to FGviewer for the breakpoints of chr21:38269160-chr21:34660409 - 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 |
. | IL10RB |
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Shared cell surface receptor required for the activation of five class 2 cytokines: IL10, IL22, IL26, IL28, and IFNL1. The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state. {ECO:0000269|PubMed:12469119, ECO:0000269|PubMed:15123776}. |
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 |
Tgene | IL10RB | chr21:38269160 | chr21:34660409 | ENST00000290200 | 4 | 7 | 243_325 | 215.33333333333334 | 326.0 | Topological domain | Cytoplasmic | |
Tgene | IL10RB | chr21:38269160 | chr21:34660409 | ENST00000290200 | 4 | 7 | 221_242 | 215.33333333333334 | 326.0 | Transmembrane | Helical |
- 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 |
Hgene | HLCS | chr21:38269160 | chr21:34660409 | ENST00000336648 | - | 7 | 12 | 463_652 | 483.6666666666667 | 727.0 | Domain | BPL/LPL catalytic |
Hgene | HLCS | chr21:38269160 | chr21:34660409 | ENST00000399120 | - | 7 | 12 | 463_652 | 483.6666666666667 | 727.0 | Domain | BPL/LPL catalytic |
Tgene | IL10RB | chr21:38269160 | chr21:34660409 | ENST00000290200 | 4 | 7 | 114_216 | 215.33333333333334 | 326.0 | Domain | Fibronectin type-III 2 | |
Tgene | IL10RB | chr21:38269160 | chr21:34660409 | ENST00000290200 | 4 | 7 | 23_111 | 215.33333333333334 | 326.0 | Domain | Fibronectin type-III 1 | |
Tgene | IL10RB | chr21:38269160 | chr21:34660409 | ENST00000290200 | 4 | 7 | 20_220 | 215.33333333333334 | 326.0 | Topological domain | Extracellular |
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Fusion Gene Sequence for HLCS-IL10RB |
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_ENST00000399120_ENST00000290200_TCGA-BH-A1EY-01A_HLCS_chr21_38269160_-_IL10RB_chr21_34660409_length(transcript)=3891nt_BP=2682nt GGCCGCGTCTTCTGCGTCAGCGACAGCCAGTCCATTGAAGACTTGAACAAGTGGGCCCTATTTCTTGTGTCTCCTTTTATACTTGAAGCA GAACACATAGCATTTGTGACGGAGAGCATTTGGGTACAAAGTGAGAATTTACAGAGATCATCCTCTTCAGAAACAACGGAGTGTCGTTCT GTCGTCCAGGCTGGAGTGCAGTGGTGTGGTCTCGGCTCACCACAACCTCTGCCTACTGGGTTCCAGTGATTCTCCTGCCTCAGCATCCCG AGTAGCTGGGACTACAGGTGCACGCTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGGTTTCACCATGCCATCCAGGCTG GTTTCGAACTCCTGACCTCGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCTGTATT TTCAAATTCTTTACCTCTGCGTTTCCAGCCTTGCTCCATCCAATTTGTTACTAGAGCTTTTTAACAATTTCACGTTGAATTAAGATGATT TGGAAGAGGAGAAACAAGAGTCAGAAAAATTAGCAGCATCCGTGATCTGACTCTGGGTACCAGTGGGTTGTTGAGATTTCTGTTCCCCAC TCACTGCAGAGCTGCTGCCTGCCAATGCCCCCTGTTGGGCAGGGCCACCTGTGCTAGTTTAACCTGGGGTCTTTCACTCCCGGACTGCTT CTTGGATGTGAGTTTTAAGTTGAGCAGAGAAGATATGCCTTGCCTGCTGCCATACATTGTAACATCAAGTCAAGAGCTTTAGTTACTTAA CAGATTTCTGCTGGCTGCTATTATAGGAGGAAACTCCTTTGTTTAGGGACAGCCAGGGCTTCCTTAGCTTTGATCTTTGGGAGTGAGCCT TTTGCTTGACTTCCCTTCTCTTTTCCATGCCTTTGTTTCCATCTCGAAGTGCAAATTTAAAGTGTCCTGTTTGCCTTTATCCACTGGAAG GCAAACACCCTGGACGACGTATCAGTGACAGCGCGGTTCTGCTTTGATCGGAGCACCCAGCGCTGCTTGAAGGCGTTTGCATGGTCCATG GCTCATGGACCACGCTCCTAGAAAACGGAAATGCACTTAGATTGTCAAGTGGTCAGACTGTTGTTTGCCATTAGCTTGCAGACCTGGGGA TCCTTATCGGCTAATTGCTGAAGCAAGTGTGGACAACTTCAGCAAGCTGGGGGTGGCGTTCATGGAAGATAGACTCCACATGGATAATGG ACTGGTACCCCAAAAGATTGTGTCGGTGCACTTGCAGGACTCCACTCTGAAGGAAGTTAAGGATCAGGTCTCAAACAAGCAAGCCCAGAT CCTAGAGCCGAAGCCTGAACCTTCTCTTGAGATTAAGCCTGAGCAGGACGGTATGGAGCATGTTGGCAGAGATGACCCAAAGGCTCTTGG TGAAGAACCCAAACAAAGGAGAGGCAGTGCCTCTGGGAGTGAGCCTGCTGGGGACAGTGACAGGGGAGGGGGCCCCGTTGAGCATTATCA CCTCCATCTGTCTAGTTGCCACGAGTGTCTGGAACTTGAGAACAGCACCATTGAGTCAGTCAAGTTTGCGTCTGCCGAGAACATTCCAGA CCTTCCCTACGATTATAGCAGCAGTTTGGAGAGTGTTGCTGATGAGACCTCCCCCGAAAGAGAAGGGAGGAGAGTCAACCTCACGGGAAA GGCACCCAACATCCTCCTCTATGTGGGCTCCGACTCCCAGGAAGCCCTCGGCCGGTTCCACGAGGTCCGGTCTGTGCTGGCCGACTGTGT GGACATTGACAGTTATATTCTCTACCACCTGCTGGAGGACAGTGCTCTCAGAGACCCGTGGACGGACAACTGTCTGCTGTTGGTCATTGC TACCAGGGAGTCCATTCCCGAAGACCTGTACCAGAAGTTCATGGCCTATCTTTCTCAGGGAGGGAAGGTGTTGGGCCTGTCTTCATCCTT CACCTTTGGTGGCTTTCAGGTGACAAGCAAGGGTGCACTGCACAAGACAGTCCAGAACTTGGTTTTCTCCAAGGCTGACCAGAGCGAGGT GAAGCTCAGCGTCTTGAGCAGTGGCTGCAGGTACCAGGAAGGCCCCGTCCGGCTCAGCCCCGGCAGGCTCCAGGGCCACCTGGAGAATGA GGACAAGGACAGGATGATTGTGCATGTGCCTTTTGGAACTCGCGGGGGAGAAGCTGTTCTTTGCCAGGTGCACTTAGAACTACCTCCCAG CTCCAACATAGTGCAAACTCCAGAAGATTTTAACTTGCTCAAGTCAAGCAATTTTAGAAGATACGAAGTCCTTAGAGAGATTCTGACAAC CCTTGGCCTCAGCTGTGACATGAAACAAGTTCCTGCCTTAACTCCTCTTTACTTGCTGTCAGCTGCGGAGGAAATCAGGGATCCTCTTAT GCAGTGGCTTGGGAAACATGTGGACTCCGAGGGAGAAATAAAATCCGGCCAGCTCTCTCTTAGATTTGTTTCATCCTACGTGTCTGAAGT AGAAATAACCCCATCTTGTATACCTGTGGTGACCAACATGGAGGCCTTCTCATCAGAACATTTCAACTTAGAGATCTATCGCCAAAATCT GCAGACCAAGCAGTTGGGGAAAGTAATTTTGTTTGCCGAAGTGACCCCCACAACGATGCGTCTCCTGGATGGAAACGGTCCCCTCCTGGA TGGTGGCCGTCATCCTCATGGCCTCGGTCTTCATGGTCTGCCTGGCACTCCTCGGCTGCTTCGCCTTGCTGTGGTGCGTTTACAAGAAGA CAAAGTACGCCTTCTCCCCTAGGAATTCTCTTCCACAGCACCTGAAAGAGTTTTTGGGCCATCCTCATCATAACACACTTCTGTTTTTCT CCTTTCCATTGTCGGATGAGAATGATGTTTTTGACAAGCTAAGTGTCATTGCAGAAGACTCTGAGAGCGGCAAGCAGAATCCTGGTGACA GCTGCAGCCTCGGGACCCCGCCTGGGCAGGGGCCCCAAAGCTAGGCTCTGAGAAGGAAACACACTCGGCTGGGCACAGTGACGTACTCCA TCTCACATCTGCCTCAGTGAGGGATCAGGGCAGCAAACAAGGGCCAAGACCATCTGAGCCAGCCCCACATCTAGAACTCCCAGACCCTGG ACTTAGCCACCAGAGAGCTACATTTTAAAGGCTGTCTTGGCAAAAATACTCCATTTGGGAACTCACTGCCTTATAAAGGCTTTCATGATG TTTTCAGAAGTTGGCCACTGAGAGTGTAATTTTCAGCCTTTTATATCACTAAAATAAGATCATGTTTTAATTGTGAGAAACAGGGCCGAG CACAGTGGCTCACGCCTGTAATACCAGCACCTTAGAGGTCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAT ATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGATGGCGCATGCCTATAATCCCAGCTACTCGAGTGCCTGAGGC AGGAGAATTGCATGAACCCGGGAGGAGGAGGAGGAGGTTGCAGTGAGCCGAGATAGCGGCACTGCACTCCAGCCTGGGTGACAAAGTGAG ACTCCATCTCAAAAAAAAAAAAAAAAAAAATTGTGAGAAACAGAAATACTTAAAATGAGGAATAAGAATGGAGATGTTACATCTGGTAGA TGTAACATTCTACCAGATTATGGATGGACTGATCTGAAAATCGACCTCAACTCAAGGGTGGTCAGCTCAATGCTACACAGAGCACGGACT TTTGGATTCTTTGCAGTACTTTGAATTTATTTTTCTACCTATATATGTTTTATATGCTGCTGGTGCTCCATTAAAGTTTTACTCTGTGTT >In-frame_ENST00000399120_ENST00000290200_TCGA-BH-A1EY-01A_HLCS_chr21_38269160_-_IL10RB_chr21_34660409_length(amino acids)=555AA_start in transcript=1144_stop in transcript=2811 MPLACRPGDPYRLIAEASVDNFSKLGVAFMEDRLHMDNGLVPQKIVSVHLQDSTLKEVKDQVSNKQAQILEPKPEPSLEIKPEQDGMEHV GRDDPKALGEEPKQRRGSASGSEPAGDSDRGGGPVEHYHLHLSSCHECLELENSTIESVKFASAENIPDLPYDYSSSLESVADETSPERE GRRVNLTGKAPNILLYVGSDSQEALGRFHEVRSVLADCVDIDSYILYHLLEDSALRDPWTDNCLLLVIATRESIPEDLYQKFMAYLSQGG KVLGLSSSFTFGGFQVTSKGALHKTVQNLVFSKADQSEVKLSVLSSGCRYQEGPVRLSPGRLQGHLENEDKDRMIVHVPFGTRGGEAVLC QVHLELPPSSNIVQTPEDFNLLKSSNFRRYEVLREILTTLGLSCDMKQVPALTPLYLLSAAEEIRDPLMQWLGKHVDSEGEIKSGQLSLR FVSSYVSEVEITPSCIPVVTNMEAFSSEHFNLEIYRQNLQTKQLGKVILFAEVTPTTMRLLDGNGPLLDGGRHPHGLGLHGLPGTPRLLR -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for HLCS-IL10RB |
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 HLCS-IL10RB |
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 HLCS-IL10RB |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HLCS | C0268581 | Holocarboxylase Synthetase Deficiency | 14 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | IL10RB | C2675508 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE | 3 | CTD_human;GENOMICS_ENGLAND |
Tgene | IL10RB | C0007786 | Brain Ischemia | 1 | CTD_human |
Tgene | IL10RB | C0009324 | Ulcerative Colitis | 1 | GENOMICS_ENGLAND |
Tgene | IL10RB | C0021390 | Inflammatory Bowel Diseases | 1 | GENOMICS_ENGLAND |
Tgene | IL10RB | C0917798 | Cerebral Ischemia | 1 | CTD_human |