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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 37251

FusionGeneSummary for TAPT1_LYST

check button Fusion gene summary
Fusion gene informationFusion gene name: TAPT1_LYST
Fusion gene ID: 37251
HgeneTgene
Gene symbol

TAPT1

LYST

Gene ID

202018

1130

Gene nametransmembrane anterior posterior transformation 1lysosomal trafficking regulator
SynonymsCMVFR|OCLSBGCHS|CHS1
Cytomap

4p15.32

1q42.3

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane anterior posterior transformation protein 1 homologcytomegalovirus partial fusion receptorlysosomal-trafficking regulatorChediak-Higashi syndrome 1beige homolog
Modification date2018052320180519
UniProtAcc

Q6NXT6

Q99698

Ensembl transtripts involved in fusion geneENST00000405303, ENST00000399920, 
ENST00000304584, ENST00000508888, 
ENST00000389794, ENST00000389793, 
ENST00000536965, ENST00000473037, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 6 X 5=180
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTAPT1

GO:0045724

positive regulation of cilium assembly

26365339


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF897244TAPT1chr4

16222656

-LYSTchr1

235864701

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000405303ENST00000389794TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000405303ENST00000389793TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000405303ENST00000536965TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000405303ENST00000473037TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000399920ENST00000389794TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000399920ENST00000389793TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000399920ENST00000536965TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000399920ENST00000473037TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000304584ENST00000389794TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000304584ENST00000389793TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000304584ENST00000536965TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000304584ENST00000473037TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000508888ENST00000389794TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000508888ENST00000389793TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000508888ENST00000536965TAPT1chr4

16222656

-LYSTchr1

235864701

-
intron-intronENST00000508888ENST00000473037TAPT1chr4

16222656

-LYSTchr1

235864701

-

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FusionProtFeatures for TAPT1_LYST


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TAPT1

Q6NXT6

LYST

Q99698

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TAPT1_LYST


check button 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 TAPT1_LYST


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TAPT1_LYST


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TAPT1_LYST


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTAPT1C4225162OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE1ORPHANET;UNIPROT
TgeneLYSTC0007965Chediak-Higashi Syndrome2CTD_human;ORPHANET;UNIPROT