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Fusion gene ID: 19705 |
FusionGeneSummary for LIG3_HAP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LIG3_HAP1 | Fusion gene ID: 19705 | Hgene | Tgene | Gene symbol | LIG3 | HAP1 | Gene ID | 121227 | 9001 |
| Gene name | leucine rich repeats and immunoglobulin like domains 3 | huntingtin associated protein 1 | |
| Synonyms | LIG3 | HAP2|HIP5|HLP|hHLP1 | |
| Cytomap | 12q14.1 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | leucine-rich repeats and immunoglobulin-like domains protein 3LIG-3 | huntingtin-associated protein 1HAP-1huntingtin-associated protein 2neuroan 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P49916 | P54257 | |
| Ensembl transtripts involved in fusion gene | ENST00000378526, ENST00000262327, ENST00000586407, | ENST00000393939, ENST00000347901, ENST00000310778, ENST00000341193, | |
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 1 X 1 X 1=1 |
| # samples | 5 | 1 | |
| ** MAII score | log2(5/50*10)=0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: LIG3 [Title/Abstract] AND HAP1 [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) |
| 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 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BRCA | TCGA-OL-A6VO-01A | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 5CDS-intron | ENST00000378526 | ENST00000393939 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| 5CDS-intron | ENST00000378526 | ENST00000347901 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| 5CDS-intron | ENST00000378526 | ENST00000310778 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| 5CDS-intron | ENST00000378526 | ENST00000341193 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| 5CDS-intron | ENST00000262327 | ENST00000393939 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| 5CDS-intron | ENST00000262327 | ENST00000347901 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| 5CDS-intron | ENST00000262327 | ENST00000310778 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| 5CDS-intron | ENST00000262327 | ENST00000341193 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| intron-intron | ENST00000586407 | ENST00000393939 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| intron-intron | ENST00000586407 | ENST00000347901 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| intron-intron | ENST00000586407 | ENST00000310778 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
| intron-intron | ENST00000586407 | ENST00000341193 | LIG3 | chr17 | 33318133 | + | HAP1 | chr17 | 39874278 | - |
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FusionProtFeatures for LIG3_HAP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LIG3 | HAP1 |
| Isoform 3 functions as heterodimer with DNA-repairprotein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatmentwith ionizing radiation and alkylating agents. Isoform 1 istargeted to mitochondria, where it functions as DNA ligase inmitochondrial base-excision DNA repair (PubMed:10207110,PubMed:24674627). {ECO:0000269|PubMed:10207110,ECO:0000269|PubMed:24674627}. | Originally identified as neuronal protein thatspecifically associates with HTT/huntingtin and the binding isenhanced by an expanded polyglutamine repeat within HTT possiblyaffecting HAP1 interaction properties. Both HTT and HAP1 areinvolved in intracellular trafficking and HAP1 is proposed to linkHTT to motor proteins and/or transport cargos. Seems to play arole in vesicular transport within neurons and axons such as fromearly endosomes to late endocytic compartments and to promoteneurite outgrowth. The vesicular transport function viaassociation with microtubule-dependent transporters can beattenuated by association with mutant HTT. Involved in the axonaltransport of BDNF and its activity-dependent secretion; thefunction seems to involve HTT, DCTN1 and a complex with SORT1.Involved in APP trafficking and seems to facilitate APPanterograde transport and membrane insertion thereby possiblyreducing processing into amyloid beta. Involved in delivery ofgamma-aminobutyric acid (GABA(A)) receptors to synapses; thefunction is dependent on kinesin motor protein KIF5 and isdisrupted by HTT with expanded polyglutamine repeat. Involved inregulation of autophagosome motility by promoting efficientretrograde axonal transport. Seems to be involved in regulation ofmembrane receptor recycling and degradation, and respective signaltransduction, including GABA(A) receptors, tyrosine kinasereceptors, EGFR, IP3 receptor and androgen receptor. Among otherssuggested to be involved in control of feeding behavior (involvinghypothalamic GABA(A) receptors), cerebellar and brainstemdevelopment (involving AHI1 and NTRK1/TrkA), postnatalneurogenesis (involving hypothalamic NTRK2/TrkB), andITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possiblythe effect of mutant HTT). Via association with DCTN1/dynactinp150-glued and HTT/huntingtin involved in cytoplasmic retention ofREST in neurons. May be involved in ciliogenesis. Involved inregulation of exocytosis. Seems to be involved in formation ofcytoplasmic inclusion bodies (STBs). In case of anomalousexpression of TBP, can sequester a subset of TBP into STBs;sequestration is enhanced by an expanded polyglutamine repeatwithin TBP. HAP1-containing STBs have been proposed to play aprotective role against neurodegeneration in Huntigton disease(HD) and spinocerebellar ataxia 17 (SCA17).{ECO:0000269|PubMed:18922795}. |
| 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 |
| - 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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FusionGeneSequence for LIG3_HAP1 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for LIG3_HAP1 |
| 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 |
| LIG3 | XRCC1, PNKP, NEIL1, NCAPG, THRA, THRB, PARP1, XRCC5, XRCC6, NBN, APP, APTX, CBX8, RPA1, RPA2, RPA3, MOV10, NXF1, PYCARD, CCDC8, EED, TOP3A, PREPL, JMJD4, CLPX, RSAD1, C7orf55, PSME3, NDUFS6, RNF146, POLB, APLF, HIST1H2BA, KIF23, RACGAP1, NTRK1, HIST1H2BG, HIST1H3A, BAX, TMPO, EMC2, EXOSC4, MMGT1, SPC24, JUN, MAX, FOXB1, FOXD3, FOXE1, FOXK2, FOXP1, NF2, NFATC1, NFATC2, H2AFX, RNF166, WDR76, MACROD1, LARS2 | HAP1 | HTT, NEUROD1, DCTN1, HGS, DDX49, EIF3E, GLTSCR2, HMOX2, ZNF691, MRPS9, RPS10, SRSF4, TSPYL1, CBX8, COL9A2, CRIP1, C8orf33, KATNBL1, CCDC113, FAM173A, TAF1D, MPP3, NAP1L5, NIPSNAP3A, PDCD7, PPID, PPOX, RER1, UTP3, ZNF20, ATP5J2, CDK5RAP2, NDUFB9, PFDN1, PSMD11, RPS25, SNAPIN, STX5, TNNT3, TOMM20, ZNF24, HAP1, PCM1, C7orf25, CDC73, TNNT1, HSPA4, GIT1, KAT7, BARD1, GADD45G, KAT5, FEZ1, APLP1, LRIF1, LUC7L2, KBTBD7, ING5, GPRASP2, IMMT, KPNA2, BRD7, VIM, ZNF33B, ATXN3, TBP, HSPA1A |
| - 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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RelatedDrugs for LIG3_HAP1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | LIG3 | P49916 | DB00290 | Bleomycin | DNA ligase 3 | small molecule | approved|investigational |
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RelatedDiseases for LIG3_HAP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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