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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: 27364

FusionGeneSummary for PKHD1_SSR1

check button Fusion gene summary
Fusion gene informationFusion gene name: PKHD1_SSR1
Fusion gene ID: 27364
HgeneTgene
Gene symbol

PKHD1

SSR1

Gene ID

5314

6745

Gene namePKHD1, fibrocystin/polyductinsignal sequence receptor subunit 1
SynonymsARPKD|FCYT|FPC|PKD4|TIGM1TRAPA
Cytomap

6p12.3-p12.2

6p24.3

Type of geneprotein-codingprotein-coding
DescriptionfibrocystinTIG multiple domains 1fibrocystin/polyductin complexpolycystic kidney and hepatic disease 1 (autosomal recessive)polycystic kidney and hepatic disease 1 proteinpolyductintigmintranslocon-associated protein subunit alphaSSR alpha subunitSSR-alphaTRAP alphasignal sequence receptor subunit alphasignal sequence receptor, alphatranslocon-associated protein alpha subunit
Modification date2018052320180523
UniProtAcc

P08F94

P43307

Ensembl transtripts involved in fusion geneENST00000371117, ENST00000340994, 
ENST00000488834, ENST00000474597, 
ENST00000244763, ENST00000397511, 
ENST00000534851, ENST00000489567, 
ENST00000479365, ENST00000462112, 
Fusion gene scores* DoF score4 X 3 X 3=365 X 6 X 3=90
# samples 36
** MAII scorelog2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PKHD1 [Title/Abstract] AND SSR1 [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
TCGALDPRADTCGA-EJ-7782-01APKHD1chr6

51875107

-SSR1chr6

7334323

-
* 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
5CDS-5UTRENST00000371117ENST00000488834PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000371117ENST00000474597PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000371117ENST00000244763PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000371117ENST00000397511PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000371117ENST00000534851PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000371117ENST00000489567PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000371117ENST00000479365PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000371117ENST00000462112PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-5UTRENST00000340994ENST00000488834PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000340994ENST00000474597PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000340994ENST00000244763PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000340994ENST00000397511PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000340994ENST00000534851PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000340994ENST00000489567PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000340994ENST00000479365PKHD1chr6

51875107

-SSR1chr6

7334323

-
5CDS-intronENST00000340994ENST00000462112PKHD1chr6

51875107

-SSR1chr6

7334323

-

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FusionProtFeatures for PKHD1_SSR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PKHD1

P08F94

SSR1

P43307

May be required for correct bipolar cell divisionthrough the regulation of centrosome duplication and mitoticspindle assembly. May be a receptor protein that acts incollecting-duct and biliary differentiation.{ECO:0000269|PubMed:20554582}.

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 PKHD1_SSR1


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 PKHD1_SSR1


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
PKHD1LGR4SSR1DKC1, UTP14A, EEF1A1, PTN, HSPA13, HDGF, ELAVL1, CUL3, CAND1, FBXO6, ACAD9, FLOT2, CCT2, ABCC2, SFXN1, ILF3, FKBP8, HNRNPM, TCP1, CCT5, ATP6V1C1, CCT4, SRSF1, PSAP, HM13, MDC1, SERPINA1, EDEM1, HSPA5, MYC, ODC1, SERPINF2, ILK, HUWE1, RPS6KB2, NTRK1, ATP5C1, CYC1, DDOST, PHB, ATAD3A, ATAD3B, ATP5L, ATP6V0D1, LMAN1, MAGT1, COX2, NDUFA9, NDUFB8, PHB2, RPN1, SSR3, TECR, TMX1, VDAC3, SSR4, UQCRC2, MED23, TCTN3, TMEM216, EZH2, SORT1, SEC61B, LTN1, ERBB3, ESRRB, DUSP23, ERGIC3, EDEM3


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 PKHD1_SSR1


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 PKHD1_SSR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePKHD1C0085548Autosomal Recessive Polycystic Kidney Disease11CTD_human;ORPHANET;UNIPROT
HgenePKHD1C0008340Choledochal Cyst1CTD_human