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Fusion gene ID: 24388 |
FusionGeneSummary for NIPBL_L3MBTL4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NIPBL_L3MBTL4 | Fusion gene ID: 24388 | Hgene | Tgene | Gene symbol | NIPBL | L3MBTL4 | Gene ID | 25836 | 91133 |
| Gene name | NIPBL, cohesin loading factor | L3MBTL4, histone methyl-lysine binding protein | |
| Synonyms | CDLS|CDLS1|IDN3|IDN3-B|Scc2 | HsT1031 | |
| Cytomap | 5p13.2 | 18p11.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nipped-B-like proteinNipped-B homologSCC2 homologdelanginsister chromatid cohesion 2 homolog | lethal(3)malignant brain tumor-like protein 4H-l(3)mbt-like protein 4L3mbt-like 4l(3)mbt-like 4l(3)mbt-like protein 4 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q6KC79 | Q8NA19 | |
| Ensembl transtripts involved in fusion gene | ENST00000282516, ENST00000448238, ENST00000504430, | ENST00000400105, ENST00000317931, ENST00000284898, ENST00000400104, ENST00000535782, ENST00000578677, | |
| Fusion gene scores | * DoF score | 18 X 9 X 11=1782 | 10 X 8 X 5=400 |
| # samples | 24 | 10 | |
| ** MAII score | log2(24/1782*10)=-2.8923910259134 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/400*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NIPBL [Title/Abstract] AND L3MBTL4 [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 |
| Hgene | NIPBL | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18854353 |
| Hgene | NIPBL | GO:0031065 | positive regulation of histone deacetylation | 18854353 |
| Hgene | NIPBL | GO:0045892 | negative regulation of transcription, DNA-templated | 18854353 |
| Hgene | NIPBL | GO:0071921 | cohesin loading | 22628566 |
| 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 | SARC | TCGA-DX-AB2W-01A | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| * 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 |
| 5UTR-3CDS | ENST00000282516 | ENST00000400105 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-3CDS | ENST00000282516 | ENST00000317931 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-3CDS | ENST00000282516 | ENST00000284898 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-3CDS | ENST00000282516 | ENST00000400104 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-3CDS | ENST00000282516 | ENST00000535782 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-intron | ENST00000282516 | ENST00000578677 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-3CDS | ENST00000448238 | ENST00000400105 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-3CDS | ENST00000448238 | ENST00000317931 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-3CDS | ENST00000448238 | ENST00000284898 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-3CDS | ENST00000448238 | ENST00000400104 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-3CDS | ENST00000448238 | ENST00000535782 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| 5UTR-intron | ENST00000448238 | ENST00000578677 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| intron-3CDS | ENST00000504430 | ENST00000400105 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| intron-3CDS | ENST00000504430 | ENST00000317931 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| intron-3CDS | ENST00000504430 | ENST00000284898 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| intron-3CDS | ENST00000504430 | ENST00000400104 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| intron-3CDS | ENST00000504430 | ENST00000535782 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
| intron-intron | ENST00000504430 | ENST00000578677 | NIPBL | chr5 | 36877280 | + | L3MBTL4 | chr18 | 6171941 | - |
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FusionProtFeatures for NIPBL_L3MBTL4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NIPBL | L3MBTL4 |
| Plays an important role in the loading of the cohesincomplex on to DNA. Forms a heterodimeric complex (also known ascohesin loading complex) with MAU2/SCC4 which mediates the loadingof the cohesin complex onto chromatin (PubMed:22628566,PubMed:28914604). Plays a role in cohesin loading at sites of DNAdamage. Its recruitement to double-strand breaks (DSBs) sitesoccurs in a CBX3-, RNF8- and RNF168-dependent manner whereas itsrecruitement to UV irradiation-induced DNA damage sites occurs ina ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679).Along with ZNF609, promotes cortical neuron migration during braindevelopment by regulating the transcription of crucial genes inthis process. Preferentially binds promoters containing paused RNApolymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1and GABBR2 genes, among others (By similarity).{ECO:0000250|UniProtKB:Q6KCD5, ECO:0000269|PubMed:22628566,ECO:0000269|PubMed:28167679, ECO:0000269|PubMed:28914604}. | Putative Polycomb group (PcG) protein. PcG proteinsmaintain the transcriptionally repressive state of genes, probablyvia a modification of chromatin, rendering it heritably changed inits expressibility (By similarity). {ECO:0000250}. |
| 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 NIPBL_L3MBTL4 |
| 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 NIPBL_L3MBTL4 |
| 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 |
| NIPBL | PRSS23, CBX5, SP100, CBX3, MLLT3, SMC1A, SMC3, MED23, CDK8, SIRT7, HINFP, TOMM40, PPT1, SF3A2, RAD21, MAU2, CDK6, RPA3, RPA2, RPA1, BRCA1, OBSL1, CCDC8, EED, EWSR1, RPL10, TFG, LDHD, SUCO, USP37, SNW1, CDC5L, ARFGAP1, TRIM25 | L3MBTL4 | APP, NINL |
| - 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 NIPBL_L3MBTL4 |
| 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 |
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RelatedDiseases for NIPBL_L3MBTL4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NIPBL | C0270972 | Cornelia De Lange Syndrome | 9 | CTD_human;ORPHANET;UNIPROT |
| Hgene | NIPBL | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| Hgene | NIPBL | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Hgene | NIPBL | C0260662 | Hearing problem | 1 | CTD_human |
| Hgene | NIPBL | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
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