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Fusion gene ID: 35614 |
FusionGeneSummary for SPDL1_SPDL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPDL1_SPDL1 | Fusion gene ID: 35614 | Hgene | Tgene | Gene symbol | SPDL1 | SPDL1 | Gene ID | 54908 | 54908 |
| Gene name | spindle apparatus coiled-coil protein 1 | spindle apparatus coiled-coil protein 1 | |
| Synonyms | CCDC99 | CCDC99 | |
| Cytomap | 5q35.1 | 5q35.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein Spindlyarsenite-related gene 1 proteincoiled-coil domain-containing protein 99rhabdomyosarcoma antigen MU-RMS-40.4Arrhabdomyosarcoma antigen protein MU-RMS-40.4A | protein Spindlyarsenite-related gene 1 proteincoiled-coil domain-containing protein 99rhabdomyosarcoma antigen MU-RMS-40.4Arrhabdomyosarcoma antigen protein MU-RMS-40.4A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96EA4 | Q96EA4 | |
| Ensembl transtripts involved in fusion gene | ENST00000265295, ENST00000510751, | ENST00000265295, ENST00000510751, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 2 X 3 X 2=12 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/32*10)=0.906890595608518 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SPDL1 [Title/Abstract] AND SPDL1 [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 |
| ChiTaRS3.1 | BQ921180 | SPDL1 | chr5 | 169031573 | - | SPDL1 | chr5 | 169031603 | + | ||
| ChiTaRS3.1 | BQ937538 | SPDL1 | chr5 | 169031573 | - | SPDL1 | chr5 | 169031603 | + | ||
| ChiTaRS3.1 | AK074227 | SPDL1 | chr5 | 169031770 | + | SPDL1 | chr5 | 169010791 | + |
| * 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-3UTR | ENST00000265295 | ENST00000265295 | SPDL1 | chr5 | 169031573 | - | SPDL1 | chr5 | 169031603 | + |
| 3UTR-intron | ENST00000265295 | ENST00000510751 | SPDL1 | chr5 | 169031573 | - | SPDL1 | chr5 | 169031603 | + |
| intron-3UTR | ENST00000510751 | ENST00000265295 | SPDL1 | chr5 | 169031573 | - | SPDL1 | chr5 | 169031603 | + |
| intron-intron | ENST00000510751 | ENST00000510751 | SPDL1 | chr5 | 169031573 | - | SPDL1 | chr5 | 169031603 | + |
| 3UTR-5UTR | ENST00000265295 | ENST00000265295 | SPDL1 | chr5 | 169031770 | + | SPDL1 | chr5 | 169010791 | + |
| 3UTR-3UTR | ENST00000265295 | ENST00000510751 | SPDL1 | chr5 | 169031770 | + | SPDL1 | chr5 | 169010791 | + |
| intron-5UTR | ENST00000510751 | ENST00000265295 | SPDL1 | chr5 | 169031770 | + | SPDL1 | chr5 | 169010791 | + |
| intron-3UTR | ENST00000510751 | ENST00000510751 | SPDL1 | chr5 | 169031770 | + | SPDL1 | chr5 | 169010791 | + |
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FusionProtFeatures for SPDL1_SPDL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPDL1 | SPDL1 |
| Required for the localization of dynein and dynactin tothe mitotic kintochore. Dynein is believed to control the initiallateral interaction between the kinetochore and spindlemicrotubules and to facilitate the subsequent formation of end-onkinetochore-microtubule attachments mediated by the NDC80 complex.Also required for correct spindle orientation. Does not appear tobe required for the removal of spindle assembly checkpoint (SAC)proteins from the kinetochore upon bipolar spindle attachment(PubMed:17576797, PubMed:19468067). Acts as an adapter proteinlinking the dynein motor complex to various cargos and convertsdynein from a non-processive to a highly processive motor in thepresence of dynactin. Facilitates the interaction between dyneinand dynactin and activates dynein processivity (the ability tomove along a microtubule for a long distance without falling offthe track) (PubMed:25035494). {ECO:0000255|HAMAP-Rule:MF_03041,ECO:0000269|PubMed:17576797, ECO:0000269|PubMed:19468067,ECO:0000269|PubMed:25035494}. | Required for the localization of dynein and dynactin tothe mitotic kintochore. Dynein is believed to control the initiallateral interaction between the kinetochore and spindlemicrotubules and to facilitate the subsequent formation of end-onkinetochore-microtubule attachments mediated by the NDC80 complex.Also required for correct spindle orientation. Does not appear tobe required for the removal of spindle assembly checkpoint (SAC)proteins from the kinetochore upon bipolar spindle attachment(PubMed:17576797, PubMed:19468067). Acts as an adapter proteinlinking the dynein motor complex to various cargos and convertsdynein from a non-processive to a highly processive motor in thepresence of dynactin. Facilitates the interaction between dyneinand dynactin and activates dynein processivity (the ability tomove along a microtubule for a long distance without falling offthe track) (PubMed:25035494). {ECO:0000255|HAMAP-Rule:MF_03041,ECO:0000269|PubMed:17576797, ECO:0000269|PubMed:19468067,ECO:0000269|PubMed:25035494}. |
| 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 SPDL1_SPDL1 |
| 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 SPDL1_SPDL1 |
| 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 SPDL1_SPDL1 |
| 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 SPDL1_SPDL1 |
| 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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