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Fusion gene ID: 36097 |
FusionGeneSummary for SRSF6_HMBOX1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SRSF6_HMBOX1 | Fusion gene ID: 36097 | Hgene | Tgene | Gene symbol | SRSF6 | HMBOX1 | Gene ID | 6431 | 79618 |
| Gene name | serine and arginine rich splicing factor 6 | homeobox containing 1 | |
| Synonyms | B52|HEL-S-91|SFRS6|SRP55 | HNF1LA|HOT1|PBHNF | |
| Cytomap | 20q13.11 | 8p21.1-p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/arginine-rich splicing factor 6SR splicing factor 6epididymis secretory protein Li 91pre-mRNA-splicing factor SRP55splicing factor, arginine/serine-rich, 55 kDa | homeobox-containing protein 1homeobox telomere-binding protein 1homeobox-containing protein PBHNF | |
| Modification date | 20180527 | 20180520 | |
| UniProtAcc | Q13247 | Q6NT76 | |
| Ensembl transtripts involved in fusion gene | ENST00000244020, | ENST00000403668, ENST00000444075, ENST00000287701, ENST00000558662, ENST00000523613, ENST00000397358, ENST00000519047, ENST00000355231, ENST00000524238, ENST00000517386, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SRSF6 [Title/Abstract] AND HMBOX1 [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 | SRSF6 | GO:0000380 | alternative mRNA splicing, via spliceosome | 22767602 |
| Hgene | SRSF6 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 23132731 |
| Hgene | SRSF6 | GO:0048025 | negative regulation of mRNA splicing, via spliceosome | 15009664 |
| Hgene | SRSF6 | GO:0060501 | positive regulation of epithelial cell proliferation involved in lung morphogenesis | 23132731 |
| Hgene | SRSF6 | GO:0060548 | negative regulation of cell death | 23132731 |
| Tgene | HMBOX1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 21839858 |
| Tgene | HMBOX1 | GO:0032212 | positive regulation of telomere maintenance via telomerase | 23685356 |
| Tgene | HMBOX1 | GO:0045892 | negative regulation of transcription, DNA-templated | 19757162 |
| Tgene | HMBOX1 | GO:0051973 | positive regulation of telomerase activity | 23685356 |
| 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 | AI122983 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| * 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 |
| 3UTR-intron | ENST00000244020 | ENST00000403668 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| 3UTR-intron | ENST00000244020 | ENST00000444075 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| 3UTR-intron | ENST00000244020 | ENST00000287701 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| 3UTR-intron | ENST00000244020 | ENST00000558662 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| 3UTR-intron | ENST00000244020 | ENST00000523613 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| 3UTR-intron | ENST00000244020 | ENST00000397358 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| 3UTR-intron | ENST00000244020 | ENST00000519047 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| 3UTR-intron | ENST00000244020 | ENST00000355231 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| 3UTR-intron | ENST00000244020 | ENST00000524238 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
| 3UTR-intron | ENST00000244020 | ENST00000517386 | SRSF6 | chr20 | 42091941 | - | HMBOX1 | chr8 | 28906614 | - |
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FusionProtFeatures for SRSF6_HMBOX1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SRSF6 | HMBOX1 |
| Plays a role in constitutive splicing and modulates theselection of alternative splice sites. Plays a role in thealternative splicing of MAPT/Tau exon 10. Binds to alternativeexons of TNC pre-mRNA and promotes the expression of alternativelyspliced TNC. Plays a role in wound healing and in the regulationof keratinocyte differentiation and proliferation via its role inalternative splicing. {ECO:0000269|PubMed:12549914,ECO:0000269|PubMed:15009664, ECO:0000269|PubMed:22767602,ECO:0000269|PubMed:24440982}. | Transcription factor. Isoform 1 acts as atranscriptional repressor. Isoform 4 has very low activity as atranscriptional repressor. {ECO:0000269|PubMed:16825764,ECO:0000269|PubMed:19757162}. |
| 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 SRSF6_HMBOX1 |
| 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 SRSF6_HMBOX1 |
| 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 |
| SRSF6 | RNPS1, SRSF4, YWHAQ, PPARGC1A, SRPK2, RRP1B, SRRM1, SREK1, ELAVL1, SF3A2, HNRNPA1, TERF1, TERF2, CUL2, CUL1, COPS5, CAND1, APP, SRSF10, ESR1, BARD1, EIF4A3, MAGOH, SF3B4, RBM10, TRA2B, TOE1, PAN2, YWHAE, SRPK3, SRPK1, TARDBP, RPL24, ASB18, TP53, LUC7L2, CUL7, OBSL1, SUZ12, EED, LUZP4, SNIP1, NTRK1, ATL3, RBBP4, SRSF1, EIF3I, LMNB1, SRSF3, SRSF7, SRSF9, SUB1, TRA2A, EWSR1, CLK1, XPO1, HNRNPD, SNW1, U2AF2, SRSF5, PRPF38A, CYLD, CD2BP2, FOXA1, YAP1 | HMBOX1 | APP, MDC1, ENTPD2, ATP5O, BYSL, CCNG1, DAB1, MFAP1, PRKAA1, PRKAA2, RPL9, SNRPB2, VPS72, PIP4K2B, FXR2, ZBTB24, KAT5, MRPL28, FARS2, MORF4L1, ZNF337, MAGEH1, ZNF581, FAM206A, UBA6, CBX8, SH2D4A, CARD9, MRPL11, UBE2Z, C8orf33, C20orf195, HMBOX1, SAP30L, FAM161A, LNX1, ZNF587, REEP6, SFR1, AEBP2, FRMD6, ASB7, DYNLL2, ZNF417, ZMAT2, RBMY2FP, TCEANC, FAM13C, PKD1P1, FAM74A4, MEMO1, MED23, DPF2, DSCC1, COBLL1, AMOTL1, IFFO1, FAM117A, CDADC1, WT1 |
| - 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 SRSF6_HMBOX1 |
| 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 SRSF6_HMBOX1 |
| 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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