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Fusion gene ID: 16652 |
FusionGeneSummary for HNRNPU_HNRNPU |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HNRNPU_HNRNPU | Fusion gene ID: 16652 | Hgene | Tgene | Gene symbol | HNRNPU | HNRNPU | Gene ID | 3192 | 3192 |
| Gene name | heterogeneous nuclear ribonucleoprotein U | heterogeneous nuclear ribonucleoprotein U | |
| Synonyms | EIEE54|GRIP120|HNRNPU-AS1|HNRPU|SAF-A|SAFA|U21.1|hnRNP U|pp120 | EIEE54|GRIP120|HNRNPU-AS1|HNRPU|SAF-A|SAFA|U21.1|hnRNP U|pp120 | |
| Cytomap | 1q44 | 1q44 | |
| Type of gene | protein-coding | protein-coding | |
| Description | heterogeneous nuclear ribonucleoprotein UHNRNPU antisense RNA 1heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)nuclear p120 ribonucleoproteinp120 nuclear protein | heterogeneous nuclear ribonucleoprotein UHNRNPU antisense RNA 1heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)nuclear p120 ribonucleoproteinp120 nuclear protein | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q00839 | Q00839 | |
| Ensembl transtripts involved in fusion gene | ENST00000444376, ENST00000283179, | ENST00000444376, ENST00000283179, | |
| Fusion gene scores | * DoF score | 7 X 10 X 2=140 | 2 X 5 X 1=10 |
| # samples | 12 | 5 | |
| ** MAII score | log2(12/140*10)=-0.222392421336448 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/10*10)=2.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HNRNPU [Title/Abstract] AND HNRNPU [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 | HNRNPU | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 22325991 |
| Hgene | HNRNPU | GO:0048255 | mRNA stabilization | 17174306 |
| Hgene | HNRNPU | GO:0071385 | cellular response to glucocorticoid stimulus | 9353307 |
| Tgene | HNRNPU | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 22325991 |
| Tgene | HNRNPU | GO:0048255 | mRNA stabilization | 17174306 |
| Tgene | HNRNPU | GO:0071385 | cellular response to glucocorticoid stimulus | 9353307 |
| 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 | AA482733 | HNRNPU | chr1 | 245020123 | - | HNRNPU | chr1 | 245020947 | + | ||
| ChiTaRS3.1 | CN262461 | HNRNPU | chr1 | 245021413 | + | HNRNPU | chr1 | 245021015 | - | ||
| ChiTaRS3.1 | BE703732 | HNRNPU | chr1 | 245023688 | + | HNRNPU | chr1 | 245019358 | + | ||
| ChiTaRS3.1 | AW419283 | HNRNPU | chr1 | 245016695 | - | HNRNPU | chr1 | 245016757 | + |
| * 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 | ENST00000444376 | ENST00000444376 | HNRNPU | chr1 | 245020123 | - | HNRNPU | chr1 | 245020947 | + |
| intron-3CDS | ENST00000444376 | ENST00000283179 | HNRNPU | chr1 | 245020123 | - | HNRNPU | chr1 | 245020947 | + |
| intron-3CDS | ENST00000283179 | ENST00000444376 | HNRNPU | chr1 | 245020123 | - | HNRNPU | chr1 | 245020947 | + |
| intron-3CDS | ENST00000283179 | ENST00000283179 | HNRNPU | chr1 | 245020123 | - | HNRNPU | chr1 | 245020947 | + |
| intron-3CDS | ENST00000444376 | ENST00000444376 | HNRNPU | chr1 | 245021413 | + | HNRNPU | chr1 | 245021015 | - |
| intron-3CDS | ENST00000444376 | ENST00000283179 | HNRNPU | chr1 | 245021413 | + | HNRNPU | chr1 | 245021015 | - |
| intron-3CDS | ENST00000283179 | ENST00000444376 | HNRNPU | chr1 | 245021413 | + | HNRNPU | chr1 | 245021015 | - |
| intron-3CDS | ENST00000283179 | ENST00000283179 | HNRNPU | chr1 | 245021413 | + | HNRNPU | chr1 | 245021015 | - |
| intron-3CDS | ENST00000444376 | ENST00000444376 | HNRNPU | chr1 | 245023688 | + | HNRNPU | chr1 | 245019358 | + |
| intron-3CDS | ENST00000444376 | ENST00000283179 | HNRNPU | chr1 | 245023688 | + | HNRNPU | chr1 | 245019358 | + |
| intron-3CDS | ENST00000283179 | ENST00000444376 | HNRNPU | chr1 | 245023688 | + | HNRNPU | chr1 | 245019358 | + |
| intron-3CDS | ENST00000283179 | ENST00000283179 | HNRNPU | chr1 | 245023688 | + | HNRNPU | chr1 | 245019358 | + |
| intron-3UTR | ENST00000444376 | ENST00000444376 | HNRNPU | chr1 | 245016695 | - | HNRNPU | chr1 | 245016757 | + |
| intron-3UTR | ENST00000444376 | ENST00000283179 | HNRNPU | chr1 | 245016695 | - | HNRNPU | chr1 | 245016757 | + |
| 5CDS-3UTR | ENST00000283179 | ENST00000444376 | HNRNPU | chr1 | 245016695 | - | HNRNPU | chr1 | 245016757 | + |
| 5CDS-3UTR | ENST00000283179 | ENST00000283179 | HNRNPU | chr1 | 245016695 | - | HNRNPU | chr1 | 245016757 | + |
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FusionProtFeatures for HNRNPU_HNRNPU |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HNRNPU | HNRNPU |
| DNA- and RNA-binding protein involved in severalcellular processes such as nuclear chromatin organization,telomere-length regulation, transcription, mRNA alternativesplicing and stability, Xist-mediated transcriptional silencingand mitotic cell progression (PubMed:10490622, PubMed:18082603,PubMed:19029303, PubMed:22325991, PubMed:25986610,PubMed:28622508). Plays a role in the regulation of interphaselarge-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, andthereby maintains genomic stability (PubMed:1324173,PubMed:8174554, PubMed:28622508). Required for the localization ofthe long non-coding Xist RNA on the inactive chromosome X (Xi) andthe subsequent initiation and maintenance of X-linkedtranscriptional gene silencing during X-inactivation (Bysimilarity). Plays a role as a RNA polymerase II (Pol II)holoenzyme transcription regulator (PubMed:8174554,PubMed:9353307, PubMed:10490622, PubMed:15711563, PubMed:19617346,PubMed:23811339). Promotes transcription initiation by directassociation with the core-TFIIH basal transcription factor complexfor the assembly of a functional pre-initiation complex with PolII in a actin-dependent manner (PubMed:10490622, PubMed:15711563).Blocks Pol II transcription elongation activity by inhibiting theC-terminal domain (CTD) phosphorylation of Pol II and dissociatesfrom Pol II pre-initiation complex prior to productivetranscription elongation (PubMed:10490622). Positively regulatesCBX5-induced transcriptional gene silencing and retention of CBX5in the nucleus (PubMed:19617346). Negatively regulatesglucocorticoid-mediated transcriptional activation(PubMed:9353307). Key regulator of transcription initiation andelongation in embryonic stem cells upon leukemia inhibitory factor(LIF) signaling (By similarity). Involved in the long non-codingRNA H19-mediated Pol II transcriptional repression(PubMed:23811339). Participates in the circadian regulation of thecore clock component ARNTL/BMAL1 transcription (By similarity).Plays a role in the regulation of telomere length(PubMed:18082603). Plays a role as a global pre-mRNA alternativesplicing modulator by regulating U2 small nuclearribonucleoprotein (snRNP) biogenesis (PubMed:22325991). Plays arole in mRNA stability (PubMed:17174306, PubMed:17289661,PubMed:19029303). Component of the CRD-mediated complex thatpromotes MYC mRNA stabilization (PubMed:19029303). Enhances theexpression of specific genes, such as tumor necrosis factor TNFA,by regulating mRNA stability, possibly through binding to the 3'-untranslated region (UTR) (PubMed:17174306). Plays a role inmitotic cell cycle regulation (PubMed:21242313, PubMed:25986610).Involved in the formation of stable mitotic spindle microtubules(MTs) attachment to kinetochore, spindle organization andchromosome congression (PubMed:21242313). Phosphorylation at Ser-59 by PLK1 is required for chromosome alignement and segregationand progression through mitosis (PubMed:25986610). Contributesalso to the targeting of AURKA to mitotic spindle MTs(PubMed:21242313). Binds to double- and single-stranded DNA andRNA, poly(A), poly(C) and poly(G) oligoribonucleotides(PubMed:1628625, PubMed:8068679, PubMed:8174554, PubMed:9204873,PubMed:9405365). Binds to chromatin-associated RNAs (caRNAs)(PubMed:28622508). Associates with chromatin to scaffold/matrixattachment region (S/MAR) elements in a chromatin-associated RNAs(caRNAs)-dependent manner (PubMed:7509195, PubMed:1324173,PubMed:9204873, PubMed:9405365, PubMed:10671544, PubMed:11003645,PubMed:11909954, PubMed:28622508). Binds to the Xist RNA(PubMed:26244333). Binds the long non-coding H19 RNA(PubMed:23811339). Binds to SMN1/2 pre-mRNAs at G/U-rich regions(PubMed:22325991). Binds to small nuclear RNAs (snRNAs)(PubMed:22325991). Binds to the 3'-UTR of TNFA mRNA(PubMed:17174306). Binds (via RNA-binding RGG-box region) to thelong non-coding Xist RNA; this binding is direct and bridges theXist RNA and the inactive chromosome X (Xi) (By similarity). Alsonegatively regulates embryonic stem cell differentiation upon LIFsignaling (By similarity). Required for embryonic development (Bysimilarity). Binds to brown fat long non-coding RNA 1 (Blnc1);facilitates the recruitment of Blnc1 by ZBTB7B required to drivebrown and beige fat development and thermogenesis (By similarity).{ECO:0000250|UniProtKB:Q8VEK3, ECO:0000269|PubMed:10490622,ECO:0000269|PubMed:10671544, ECO:0000269|PubMed:11003645,ECO:0000269|PubMed:11909954, ECO:0000269|PubMed:1324173,ECO:0000269|PubMed:15711563, ECO:0000269|PubMed:1628625,ECO:0000269|PubMed:17174306, ECO:0000269|PubMed:17289661,ECO:0000269|PubMed:18082603, ECO:0000269|PubMed:19029303,ECO:0000269|PubMed:19617346, ECO:0000269|PubMed:21242313,ECO:0000269|PubMed:22325991, ECO:0000269|PubMed:23811339,ECO:0000269|PubMed:25986610, ECO:0000269|PubMed:26244333,ECO:0000269|PubMed:28622508, ECO:0000269|PubMed:7509195,ECO:0000269|PubMed:8068679, ECO:0000269|PubMed:8174554,ECO:0000269|PubMed:9204873, ECO:0000269|PubMed:9353307,ECO:0000269|PubMed:9405365}. (Microbial infection) Negatively regulatesimmunodeficiency virus type 1 (HIV-1) replication by preventingthe accumulation of viral mRNA transcripts in the cytoplasm.{ECO:0000269|PubMed:16916646}. | DNA- and RNA-binding protein involved in severalcellular processes such as nuclear chromatin organization,telomere-length regulation, transcription, mRNA alternativesplicing and stability, Xist-mediated transcriptional silencingand mitotic cell progression (PubMed:10490622, PubMed:18082603,PubMed:19029303, PubMed:22325991, PubMed:25986610,PubMed:28622508). Plays a role in the regulation of interphaselarge-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, andthereby maintains genomic stability (PubMed:1324173,PubMed:8174554, PubMed:28622508). Required for the localization ofthe long non-coding Xist RNA on the inactive chromosome X (Xi) andthe subsequent initiation and maintenance of X-linkedtranscriptional gene silencing during X-inactivation (Bysimilarity). Plays a role as a RNA polymerase II (Pol II)holoenzyme transcription regulator (PubMed:8174554,PubMed:9353307, PubMed:10490622, PubMed:15711563, PubMed:19617346,PubMed:23811339). Promotes transcription initiation by directassociation with the core-TFIIH basal transcription factor complexfor the assembly of a functional pre-initiation complex with PolII in a actin-dependent manner (PubMed:10490622, PubMed:15711563).Blocks Pol II transcription elongation activity by inhibiting theC-terminal domain (CTD) phosphorylation of Pol II and dissociatesfrom Pol II pre-initiation complex prior to productivetranscription elongation (PubMed:10490622). Positively regulatesCBX5-induced transcriptional gene silencing and retention of CBX5in the nucleus (PubMed:19617346). Negatively regulatesglucocorticoid-mediated transcriptional activation(PubMed:9353307). Key regulator of transcription initiation andelongation in embryonic stem cells upon leukemia inhibitory factor(LIF) signaling (By similarity). Involved in the long non-codingRNA H19-mediated Pol II transcriptional repression(PubMed:23811339). Participates in the circadian regulation of thecore clock component ARNTL/BMAL1 transcription (By similarity).Plays a role in the regulation of telomere length(PubMed:18082603). Plays a role as a global pre-mRNA alternativesplicing modulator by regulating U2 small nuclearribonucleoprotein (snRNP) biogenesis (PubMed:22325991). Plays arole in mRNA stability (PubMed:17174306, PubMed:17289661,PubMed:19029303). Component of the CRD-mediated complex thatpromotes MYC mRNA stabilization (PubMed:19029303). Enhances theexpression of specific genes, such as tumor necrosis factor TNFA,by regulating mRNA stability, possibly through binding to the 3'-untranslated region (UTR) (PubMed:17174306). Plays a role inmitotic cell cycle regulation (PubMed:21242313, PubMed:25986610).Involved in the formation of stable mitotic spindle microtubules(MTs) attachment to kinetochore, spindle organization andchromosome congression (PubMed:21242313). Phosphorylation at Ser-59 by PLK1 is required for chromosome alignement and segregationand progression through mitosis (PubMed:25986610). Contributesalso to the targeting of AURKA to mitotic spindle MTs(PubMed:21242313). Binds to double- and single-stranded DNA andRNA, poly(A), poly(C) and poly(G) oligoribonucleotides(PubMed:1628625, PubMed:8068679, PubMed:8174554, PubMed:9204873,PubMed:9405365). Binds to chromatin-associated RNAs (caRNAs)(PubMed:28622508). Associates with chromatin to scaffold/matrixattachment region (S/MAR) elements in a chromatin-associated RNAs(caRNAs)-dependent manner (PubMed:7509195, PubMed:1324173,PubMed:9204873, PubMed:9405365, PubMed:10671544, PubMed:11003645,PubMed:11909954, PubMed:28622508). Binds to the Xist RNA(PubMed:26244333). Binds the long non-coding H19 RNA(PubMed:23811339). Binds to SMN1/2 pre-mRNAs at G/U-rich regions(PubMed:22325991). Binds to small nuclear RNAs (snRNAs)(PubMed:22325991). Binds to the 3'-UTR of TNFA mRNA(PubMed:17174306). Binds (via RNA-binding RGG-box region) to thelong non-coding Xist RNA; this binding is direct and bridges theXist RNA and the inactive chromosome X (Xi) (By similarity). Alsonegatively regulates embryonic stem cell differentiation upon LIFsignaling (By similarity). Required for embryonic development (Bysimilarity). Binds to brown fat long non-coding RNA 1 (Blnc1);facilitates the recruitment of Blnc1 by ZBTB7B required to drivebrown and beige fat development and thermogenesis (By similarity).{ECO:0000250|UniProtKB:Q8VEK3, ECO:0000269|PubMed:10490622,ECO:0000269|PubMed:10671544, ECO:0000269|PubMed:11003645,ECO:0000269|PubMed:11909954, ECO:0000269|PubMed:1324173,ECO:0000269|PubMed:15711563, ECO:0000269|PubMed:1628625,ECO:0000269|PubMed:17174306, ECO:0000269|PubMed:17289661,ECO:0000269|PubMed:18082603, ECO:0000269|PubMed:19029303,ECO:0000269|PubMed:19617346, ECO:0000269|PubMed:21242313,ECO:0000269|PubMed:22325991, ECO:0000269|PubMed:23811339,ECO:0000269|PubMed:25986610, ECO:0000269|PubMed:26244333,ECO:0000269|PubMed:28622508, ECO:0000269|PubMed:7509195,ECO:0000269|PubMed:8068679, ECO:0000269|PubMed:8174554,ECO:0000269|PubMed:9204873, ECO:0000269|PubMed:9353307,ECO:0000269|PubMed:9405365}. (Microbial infection) Negatively regulatesimmunodeficiency virus type 1 (HIV-1) replication by preventingthe accumulation of viral mRNA transcripts in the cytoplasm.{ECO:0000269|PubMed:16916646}. |
| 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 HNRNPU_HNRNPU |
| 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 HNRNPU_HNRNPU |
| 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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RelatedDrugs for HNRNPU_HNRNPU |
| 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 HNRNPU_HNRNPU |
| 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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