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Fusion gene ID: 19599 |
FusionGeneSummary for LDOC1_DYNC1H1 |
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Fusion gene information | Fusion gene name: LDOC1_DYNC1H1 | Fusion gene ID: 19599 | Hgene | Tgene | Gene symbol | LDOC1 | DYNC1H1 | Gene ID | 23641 | 1778 |
Gene name | LDOC1, regulator of NFKB signaling | dynein cytoplasmic 1 heavy chain 1 | |
Synonyms | BCUR1|Mar7|Mart7|RTL7|SIRH7 | CMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22 | |
Cytomap | Xq27.1 | 14q32.31 | |
Type of gene | protein-coding | protein-coding | |
Description | protein LDOC1Sushi-Ichi retrotransposon homolog 7breast cancer, up-regulated 1leucine zipper down-regulated in cancer 1leucine zipper downregulated in cancerleucine zipper protein down-regulated in cancer cellsmammalian retrotransposon-derived 7ret | cytoplasmic dynein 1 heavy chain 1dynein heavy chain, cytosolicdynein, cytoplasmic, heavy polypeptide 1 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | O95751 | Q14204 | |
Ensembl transtripts involved in fusion gene | ENST00000460721, ENST00000370526, | ENST00000360184, ENST00000556791, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 7 X 9 X 3=189 |
# samples | 1 | 9 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(9/189*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: LDOC1 [Title/Abstract] AND DYNC1H1 [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 |
![]() (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 | DR978379 | LDOC1 | chrX | 140271096 | + | DYNC1H1 | chr14 | 102431175 | + |
* 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 |
intron-3CDS | ENST00000460721 | ENST00000360184 | LDOC1 | chrX | 140271096 | + | DYNC1H1 | chr14 | 102431175 | + |
intron-intron | ENST00000460721 | ENST00000556791 | LDOC1 | chrX | 140271096 | + | DYNC1H1 | chr14 | 102431175 | + |
intron-3CDS | ENST00000370526 | ENST00000360184 | LDOC1 | chrX | 140271096 | + | DYNC1H1 | chr14 | 102431175 | + |
intron-intron | ENST00000370526 | ENST00000556791 | LDOC1 | chrX | 140271096 | + | DYNC1H1 | chr14 | 102431175 | + |
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FusionProtFeatures for LDOC1_DYNC1H1 |
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Hgene | Tgene |
LDOC1 | DYNC1H1 |
May have an important role in the development and/orprogression of some cancers. | Cytoplasmic dynein 1 acts as a motor for theintracellular retrograde motility of vesicles and organelles alongmicrotubules. Dynein has ATPase activity; the force-producingpower stroke is thought to occur on release of ADP. Plays a rolein mitotic spindle assembly and metaphase plate congression(PubMed:27462074). {ECO:0000269|PubMed:27462074}. |
![]() * 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 LDOC1_DYNC1H1 |
![]() (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 LDOC1_DYNC1H1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 LDOC1_DYNC1H1 |
![]() (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 LDOC1_DYNC1H1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | DYNC1H1 | C3280220 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O | 4 | ORPHANET;UNIPROT |
Tgene | DYNC1H1 | C3281202 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 | 4 | UNIPROT |
Tgene | DYNC1H1 | C1834690 | Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | 2 | ORPHANET;UNIPROT |
Tgene | DYNC1H1 | C0025958 | Microcephaly | 1 | CTD_human |
Tgene | DYNC1H1 | C1955869 | Malformations of Cortical Development | 1 | CTD_human |
Tgene | DYNC1H1 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |