|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 16535 |
FusionGeneSummary for HNRNPA2B1_NSD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HNRNPA2B1_NSD1 | Fusion gene ID: 16535 | Hgene | Tgene | Gene symbol | HNRNPA2B1 | NSD1 | Gene ID | 3181 | 64324 |
| Gene name | heterogeneous nuclear ribonucleoprotein A2/B1 | nuclear receptor binding SET domain protein 1 | |
| Synonyms | HNRNPA2|HNRNPB1|HNRPA2|HNRPA2B1|HNRPB1|IBMPFD2|RNPA2|SNRPB1 | ARA267|KMT3B|SOTOS|SOTOS1|STO | |
| Cytomap | 7p15.2 | 5q35.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | heterogeneous nuclear ribonucleoproteins A2/B1HNRNPA2B1/MYC fusionhnRNP A2 / hnRNP B1nuclear ribonucleoprotein particle A2 protein | histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificH3-K36-HMTaseH4-K20-HMTaseNR-binding SET domain-containing proteinandrogen receptor coactivator 267 kDa proteinandrogen receptor-associated coregulator 267androgen receptor-as | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P22626 | Q96L73 | |
| Ensembl transtripts involved in fusion gene | ENST00000476233, ENST00000354667, ENST00000356674, | ENST00000354179, ENST00000439151, ENST00000347982, ENST00000361032, ENST00000511258, | |
| Fusion gene scores | * DoF score | 21 X 21 X 10=4410 | 7 X 7 X 4=196 |
| # samples | 27 | 10 | |
| ** MAII score | log2(27/4410*10)=-4.02974734339405 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/196*10)=-0.970853654340483 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HNRNPA2B1 [Title/Abstract] AND NSD1 [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 | HNRNPA2B1 | GO:0006397 | mRNA processing | 2557628 |
| Hgene | HNRNPA2B1 | GO:0006406 | mRNA export from nucleus | 10567417 |
| Hgene | HNRNPA2B1 | GO:0031053 | primary miRNA processing | 26321680 |
| Hgene | HNRNPA2B1 | GO:0050658 | RNA transport | 17004321 |
| Hgene | HNRNPA2B1 | GO:1990428 | miRNA transport | 24356509 |
| Tgene | NSD1 | GO:0045893 | positive regulation of transcription, DNA-templated | 11509567 |
| 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 |
| ChiTaRS3.1 | AA928524 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| * 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 |
| intron-3CDS | ENST00000476233 | ENST00000354179 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000476233 | ENST00000439151 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000476233 | ENST00000347982 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000476233 | ENST00000361032 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-intron | ENST00000476233 | ENST00000511258 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000354667 | ENST00000354179 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000354667 | ENST00000439151 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000354667 | ENST00000347982 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000354667 | ENST00000361032 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-intron | ENST00000354667 | ENST00000511258 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000356674 | ENST00000354179 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000356674 | ENST00000439151 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000356674 | ENST00000347982 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-3CDS | ENST00000356674 | ENST00000361032 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
| intron-intron | ENST00000356674 | ENST00000511258 | HNRNPA2B1 | chr7 | 26231578 | + | NSD1 | chr5 | 176637061 | - |
Top |
FusionProtFeatures for HNRNPA2B1_NSD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HNRNPA2B1 | NSD1 |
| Heterogeneous nuclear ribonucleoprotein (hnRNP) thatassociates with nascent pre-mRNAs, packaging them into hnRNPparticles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilizethe transcripts and minimize tangling and knotting. Packagingplays a role in various processes such as transcription, pre-mRNAprocessing, RNA nuclear export, subcellular location, mRNAtranslation and stability of mature mRNAs (PubMed:19099192). FormshnRNP particles with at least 20 other different hnRNP andheterogeneous nuclear RNA in the nucleus. Involved in transport ofspecific mRNAs to the cytoplasm in oligodendrocytes and neurons:acts by specifically recognizing and binding the A2RE (21nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11nucleotide oligonucleotide) sequence motifs present on some mRNAs,and promotes their transport to the cytoplasm (PubMed:10567417).Specifically binds single-stranded telomeric DNA sequences,protecting telomeric DNA repeat against endonuclease digestion (Bysimilarity). Also binds other RNA molecules, such as primary miRNA(pri-miRNAs): acts as a nuclear 'reader' of the N6-methyladenosine(m6A) mark by specifically recognizing and binding a subset ofnuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8to pri-miRNA transcripts (PubMed:26321680). Involved in miRNAsorting into exosomes following sumoylation, possibly by binding(m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulatorof efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680).{ECO:0000250|UniProtKB:A7VJC2, ECO:0000269|PubMed:10567417,ECO:0000269|PubMed:24356509, ECO:0000269|PubMed:26321680,ECO:0000303|PubMed:19099192}. (Microbial infection) Involved in the transport of HIV-1genomic RNA out of the nucleus, to the microtubule organizingcenter (MTOC), and then from the MTOC to the cytoplasm: acts byspecifically recognizing and binding the A2RE (21 nucleotide hnRNPA2 response element) sequence motifs present on HIV-1 genomic RNA,and promotes its transport. {ECO:0000269|PubMed:15294897,ECO:0000269|PubMed:17004321}. | Histone methyltransferase. Preferentially methylates'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro).Transcriptional intermediary factor capable of both negatively orpositively influencing transcription, depending on the cellularcontext. {ECO:0000269|PubMed:21196496}. |
| 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 |
Top |
FusionGeneSequence for HNRNPA2B1_NSD1 |
| 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). |
Top |
FusionGenePPI for HNRNPA2B1_NSD1 |
| 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 |
Top |
RelatedDrugs for HNRNPA2B1_NSD1 |
| 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 | HNRNPA2B1 | P22626 | DB11638 | Artenimol | Heterogeneous nuclear ribonucleoproteins A2/B1 | small molecule | approved|investigational |
Top |
RelatedDiseases for HNRNPA2B1_NSD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HNRNPA2B1 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| Hgene | HNRNPA2B1 | C3809468 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 | 1 | UNIPROT |
| Tgene | NSD1 | C0175695 | Sotos' syndrome | 14 | CTD_human;ORPHANET;UNIPROT |
| Tgene | NSD1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | NSD1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | NSD1 | C0265210 | Weaver syndrome | 1 | CTD_human;ORPHANET |
| Tgene | NSD1 | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|