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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: 29282

FusionGeneSummary for PTCHD3P1_SVIL

check button Fusion gene summary
Fusion gene informationFusion gene name: PTCHD3P1_SVIL
Fusion gene ID: 29282
HgeneTgene
Gene symbol

PTCHD3P1

SVIL

Gene ID

387647

6840

Gene namepatched domain containing 3 pseudogene 1supervillin
Synonyms--
Cytomap

10p11.23

10p11.23

Type of genepseudoprotein-coding
Description-supervillinarchvillinmembrane-associated F-actin binding protein p205p205/p250
Modification date2018032920180519
UniProtAcc

O95425

Ensembl transtripts involved in fusion geneENST00000413405, ENST00000414457, 
ENST00000446807, ENST00000423223, 
ENST00000445521, ENST00000455774, 
ENST00000430295, ENST00000608994, 
ENST00000609413, ENST00000537908, 
ENST00000427063, ENST00000438202, 
ENST00000375400, ENST00000375398, 
ENST00000355867, ENST00000535393, 
ENST00000460007, ENST00000538146, 
Fusion gene scores* DoF score3 X 3 X 1=910 X 8 X 5=400
# samples 312
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/400*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTCHD3P1 [Title/Abstract] AND SVIL [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

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
ChiTaRS3.1BI038440PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
* 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-3CDSENST00000413405ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000413405ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000413405ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000413405ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000413405ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000413405ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000414457ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000414457ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000414457ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000414457ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000414457ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000414457ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000446807ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000446807ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000446807ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000446807ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000446807ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000446807ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000423223ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000423223ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000423223ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000423223ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000423223ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000423223ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000445521ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000445521ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000445521ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000445521ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000445521ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000445521ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000455774ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000455774ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000455774ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000455774ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000455774ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000455774ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000430295ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000430295ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000430295ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000430295ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000430295ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000430295ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000608994ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000608994ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000608994ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000608994ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000608994ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000608994ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000609413ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000609413ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000609413ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000609413ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000609413ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000609413ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000537908ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000537908ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000537908ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000537908ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000537908ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000537908ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000427063ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000427063ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000427063ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000427063ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000427063ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000427063ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000438202ENST00000375400PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000438202ENST00000375398PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000438202ENST00000355867PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-3CDSENST00000438202ENST00000535393PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000438202ENST00000460007PTCHD3P1chr10

29760156

-SVILchr10

29801686

-
intron-intronENST00000438202ENST00000538146PTCHD3P1chr10

29760156

-SVILchr10

29801686

-

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FusionProtFeatures for PTCHD3P1_SVIL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTCHD3P1

SVIL

O95425

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Isoform 1: Forms a high-affinity link between the actincytoskeleton and the membrane. Is among the first costamericproteins to assemble during myogenesis and it contributes tomyogenic membrane structure and differentiation (PubMed:12711699).Appears to be involved in myosin II assembly. May modulate myosinII regulation through MLCK during cell spreading, an initial stepin cell migration. May play a role in invadopodial function(PubMed:19109420). {ECO:0000269|PubMed:12711699,ECO:0000269|PubMed:19109420}. Isoform 2: May be involved in modulation of focaladhesions. Supervillin-mediated down-regulation of focal adhesionsinvolves binding to TRIP6. Plays a role in cytokinesis throughKIF14 interaction (By similarity). {ECO:0000250|UniProtKB:O46385}.

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 PTCHD3P1_SVIL


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 PTCHD3P1_SVIL


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 PTCHD3P1_SVIL


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 PTCHD3P1_SVIL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSVILC0023467Leukemia, Myelocytic, Acute1CTD_human