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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: 25778

FusionGeneSummary for PAFAH1B1_TAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PAFAH1B1_TAP1
Fusion gene ID: 25778
HgeneTgene
Gene symbol

PAFAH1B1

TAP1

Gene ID

5048

23541

Gene nameplatelet activating factor acetylhydrolase 1b regulatory subunit 1SEC14 like lipid binding 2
SynonymsLIS1|LIS2|MDCR|MDS|NudF|PAFAHC22orf6|SPF|TAP|TAP1
Cytomap

17p13.3

22q12.2

Type of geneprotein-codingprotein-coding
Descriptionplatelet-activating factor acetylhydrolase IB subunit alphalissencephaly 1 proteinplatelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)platelet-activatinSEC14-like protein 2alpha-tocopherol-associated proteinsqualene transfer proteinsupernatant protein factortocopherol-associated protein 1
Modification date2018052320180519
UniProtAcc

P43034

Q03518

Ensembl transtripts involved in fusion geneENST00000397195, ENST00000572915, 
ENST00000451360, 		ENST00000354258, 
ENST00000425148, ENST00000418205, 
ENST00000440894, ENST00000439781, 
ENST00000424897, ENST00000383235, 
ENST00000414467, ENST00000428324, 
Fusion gene scores* DoF score9 X 6 X 3=1621 X 1 X 1=1
# samples 91
** MAII scorelog2(9/162*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: PAFAH1B1 [Title/Abstract] AND TAP1 [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
HgenePAFAH1B1

GO:0007017

microtubule-based process

11940666


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
ChiTaRS3.1BE504849PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
* 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
3UTR-intronENST00000397195ENST00000354258PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000397195ENST00000425148PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000397195ENST00000418205PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000397195ENST00000440894PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000397195ENST00000439781PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000397195ENST00000424897PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000397195ENST00000383235PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000397195ENST00000414467PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000397195ENST00000428324PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000572915ENST00000354258PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000572915ENST00000425148PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000572915ENST00000418205PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000572915ENST00000440894PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000572915ENST00000439781PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000572915ENST00000424897PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000572915ENST00000383235PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000572915ENST00000414467PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
3UTR-intronENST00000572915ENST00000428324PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
intron-intronENST00000451360ENST00000354258PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
intron-intronENST00000451360ENST00000425148PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
intron-intronENST00000451360ENST00000418205PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
intron-intronENST00000451360ENST00000440894PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
intron-intronENST00000451360ENST00000439781PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
intron-intronENST00000451360ENST00000424897PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
intron-intronENST00000451360ENST00000383235PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
intron-intronENST00000451360ENST00000414467PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+
intron-intronENST00000451360ENST00000428324PAFAH1B1chr17

2587611

-TAP1chr6

4247569

+

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FusionProtFeatures for PAFAH1B1_TAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PAFAH1B1

P43034

TAP1

Q03518

Required for proper activation of Rho GTPases and actinpolymerization at the leading edge of locomoting cerebellarneurons and postmigratory hippocampal neurons in response tocalcium influx triggered via NMDA receptors. Non-catalytic subunitof an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2position (By similarity). Positively regulates the activity of theminus-end directed microtubule motor protein dynein. May enhancedynein-mediated microtubule sliding by targeting dynein to themicrotubule plus end. Required for several dynein- andmicrotubule-dependent processes such as the maintenance of Golgiintegrity, the peripheral transport of microtubule fragments andthe coupling of the nucleus and centrosome. Required during braindevelopment for the proliferation of neuronal precursors and themigration of newly formed neurons from theventricular/subventricular zone toward the cortical plate.Neuronal migration involves a process called nucleokinesis,whereby migrating cells extend an anterior process into which thenucleus subsequently translocates. During nucleokinesis dynein atthe nuclear surface may translocate the nucleus towards thecentrosome by exerting force on centrosomal microtubules. May alsoplay a role in other forms of cell locomotion including themigration of fibroblasts during wound healing. Required for dyneinrecruitment to microtubule plus ends and BICD2-bound cargos(PubMed:22956769). {ECO:0000250|UniProtKB:P63005,ECO:0000269|PubMed:15173193, ECO:0000269|PubMed:22956769}. Involved in the transport of antigens from the cytoplasmto the endoplasmic reticulum for association with MHC class Imolecules. Also acts as a molecular scaffold for the final stageof MHC class I folding, namely the binding of peptide. Nascent MHCclass I molecules associate with TAP via tapasin. Inhibited by thecovalent attachment of herpes simplex virus ICP47 protein, whichblocks the peptide-binding site of TAP. Inhibited by humancytomegalovirus US6 glycoprotein, which binds to the lumenal sideof the TAP complex and inhibits peptide translocation byspecifically blocking ATP-binding to TAP1 and prevents theconformational rearrangement of TAP induced by peptide binding.Inhibited by human adenovirus E3-19K glycoprotein, which binds theTAP complex and acts as a tapasin inhibitor, preventing MHC classI/TAP association. Expression of TAP1 is down-regulated by humanEpstein-Barr virus vIL-10 protein, thereby affecting the transportof peptides into the endoplasmic reticulum and subsequent peptideloading by MHC class I molecules.

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 PAFAH1B1_TAP1


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 PAFAH1B1_TAP1


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 PAFAH1B1_TAP1


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 PAFAH1B1_TAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAFAH1B1C0431375Classical Lissencephaly5ORPHANET;UNIPROT
HgenePAFAH1B1C0036341Schizophrenia1PSYGENET
HgenePAFAH1B1C0596263Carcinogenesis1CTD_human
TgeneTAP1C0036341Schizophrenia1PSYGENET
TgeneTAP1C0151744Myocardial Ischemia1CTD_human