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Fusion gene ID: 37251 |
FusionGeneSummary for TAPT1_LYST |
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Fusion gene information | Fusion gene name: TAPT1_LYST | Fusion gene ID: 37251 | Hgene | Tgene | Gene symbol | TAPT1 | LYST | Gene ID | 202018 | 1130 |
Gene name | transmembrane anterior posterior transformation 1 | lysosomal trafficking regulator | |
Synonyms | CMVFR|OCLSBG | CHS|CHS1 | |
Cytomap | 4p15.32 | 1q42.3 | |
Type of gene | protein-coding | protein-coding | |
Description | transmembrane anterior posterior transformation protein 1 homologcytomegalovirus partial fusion receptor | lysosomal-trafficking regulatorChediak-Higashi syndrome 1beige homolog | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q6NXT6 | Q99698 | |
Ensembl transtripts involved in fusion gene | ENST00000405303, ENST00000399920, ENST00000304584, ENST00000508888, | ENST00000389794, ENST00000389793, ENST00000536965, ENST00000473037, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 6 X 5=180 |
# samples | 2 | 7 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(7/180*10)=-1.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TAPT1 [Title/Abstract] AND LYST [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 | TAPT1 | GO:0045724 | positive regulation of cilium assembly | 26365339 |
![]() (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 | BF897244 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
* 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-intron | ENST00000405303 | ENST00000389794 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000405303 | ENST00000389793 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000405303 | ENST00000536965 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000405303 | ENST00000473037 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000399920 | ENST00000389794 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000399920 | ENST00000389793 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000399920 | ENST00000536965 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000399920 | ENST00000473037 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000304584 | ENST00000389794 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000304584 | ENST00000389793 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000304584 | ENST00000536965 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000304584 | ENST00000473037 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000508888 | ENST00000389794 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000508888 | ENST00000389793 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000508888 | ENST00000536965 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
intron-intron | ENST00000508888 | ENST00000473037 | TAPT1 | chr4 | 16222656 | - | LYST | chr1 | 235864701 | - |
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FusionProtFeatures for TAPT1_LYST |
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Hgene | Tgene |
TAPT1 | LYST |
Plays a role in primary cilia formation(PubMed:26365339). May act as a downstream effector of HOXC8possibly by transducing or transmitting extracellular informationrequired for axial skeletal patterning during development (Bysimilarity). May be involved in cartilage and bone development (Bysimilarity). May play a role in the differentiation of cranialneural crest cells (By similarity). {ECO:0000250|UniProtKB:A2BIE7,ECO:0000250|UniProtKB:Q4VBD2, ECO:0000269|PubMed:26365339}. (Microbial infection) In case of infection, may act as afusion receptor for cytomegalovirus (HCMV) strain AD169.{ECO:0000269|PubMed:10640539}. | May be required for sorting endosomal resident proteinsinto late multivesicular endosomes by a mechanism involvingmicrotubules. |
![]() * 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 TAPT1_LYST |
![]() (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 TAPT1_LYST |
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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 TAPT1_LYST |
![]() (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 TAPT1_LYST |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TAPT1 | C4225162 | OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE | 1 | ORPHANET;UNIPROT |
Tgene | LYST | C0007965 | Chediak-Higashi Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |