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Fusion gene ID: 3557 |
FusionGeneSummary for ATXN10_COL16A1 |
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Fusion gene information | Fusion gene name: ATXN10_COL16A1 | Fusion gene ID: 3557 | Hgene | Tgene | Gene symbol | ATXN10 | COL16A1 | Gene ID | 25814 | 1307 |
Gene name | ataxin 10 | collagen type XVI alpha 1 chain | |
Synonyms | E46L|HUMEEP|SCA10 | 447AA|FP1572 | |
Cytomap | 22q13.31 | 1p35.2 | |
Type of gene | protein-coding | protein-coding | |
Description | ataxin-10brain protein E46 homologspinocerebellar ataxia type 10 protein | collagen alpha-1(XVI) chainalpha 1 type XVI collagencollagen XVI, alpha-1 polypeptidecollagen, type XVI, alpha 1 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9UBB4 | Q07092 | |
Ensembl transtripts involved in fusion gene | ENST00000381061, ENST00000252934, ENST00000498009, ENST00000402380, | ENST00000271069, ENST00000373672, ENST00000461217, ENST00000373668, | |
Fusion gene scores | * DoF score | 10 X 4 X 9=360 | 2 X 2 X 2=8 |
# samples | 10 | 3 | |
** MAII score | log2(10/360*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/8*10)=1.90689059560852 | |
Context | PubMed: ATXN10 [Title/Abstract] AND COL16A1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ATXN10 | GO:0031175 | neuron projection development | 16498633 |
Tgene | COL16A1 | GO:0007155 | cell adhesion | 16754661 |
Tgene | COL16A1 | GO:0033622 | integrin activation | 16754661 |
Tgene | COL16A1 | GO:0033627 | cell adhesion mediated by integrin | 16754661 |
Tgene | COL16A1 | GO:0051894 | positive regulation of focal adhesion assembly | 24466237 |
![]() (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 | THYM | TCGA-X7-A8D9-01A | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
Frame-shift | ENST00000381061 | ENST00000271069 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
Frame-shift | ENST00000381061 | ENST00000373672 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
5CDS-intron | ENST00000381061 | ENST00000461217 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
5CDS-intron | ENST00000381061 | ENST00000373668 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
Frame-shift | ENST00000252934 | ENST00000271069 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
Frame-shift | ENST00000252934 | ENST00000373672 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
5CDS-intron | ENST00000252934 | ENST00000461217 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
5CDS-intron | ENST00000252934 | ENST00000373668 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
intron-3CDS | ENST00000498009 | ENST00000271069 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
intron-3CDS | ENST00000498009 | ENST00000373672 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
intron-intron | ENST00000498009 | ENST00000461217 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
intron-intron | ENST00000498009 | ENST00000373668 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
intron-3CDS | ENST00000402380 | ENST00000271069 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
intron-3CDS | ENST00000402380 | ENST00000373672 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
intron-intron | ENST00000402380 | ENST00000461217 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
intron-intron | ENST00000402380 | ENST00000373668 | ATXN10 | chr22 | 46068059 | + | COL16A1 | chr1 | 32158110 | - |
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FusionProtFeatures for ATXN10_COL16A1 |
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Hgene | Tgene |
ATXN10 | COL16A1 |
Necessary for the survival of cerebellar neurons.Induces neuritogenesis by activating the Ras-MAP kinase pathway.May play a role in the maintenance of a critical intracellularglycosylation level and homeostasis. {ECO:0000250}. | Involved in mediating cell attachment and inducingintegrin-mediated cellular reactions, such as cell spreading andalterations in cell morphology. {ECO:0000269|PubMed:16754661}. |
![]() * 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 ATXN10_COL16A1 |
![]() (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 ATXN10_COL16A1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ATXN10 | BSG, STYXL1, MAGED1, GSTK1, CUL3, PPP1R12A, GNB1, GNB2, FN1, MRPS16, GLS, GOLGA1, ABCA1, CA9, VCP, EGFR, SERPINH1, HSPA1A, HSPA8, CCDC8, ABCE1, HTR6, HSPB1, CEP162, CEP152, CEP128, SCLT1, CENPJ, LAMB3, MYC, UBE2A, TUBA1C, MTMR14, DUSP22, PTPRN, STOM, DLD | COL16A1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ATXN10_COL16A1 |
![]() (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 ATXN10_COL16A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |