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Fusion gene ID: 27364 |
FusionGeneSummary for PKHD1_SSR1 |
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Fusion gene information | Fusion gene name: PKHD1_SSR1 | Fusion gene ID: 27364 | Hgene | Tgene | Gene symbol | PKHD1 | SSR1 | Gene ID | 5314 | 6745 |
Gene name | PKHD1, fibrocystin/polyductin | signal sequence receptor subunit 1 | |
Synonyms | ARPKD|FCYT|FPC|PKD4|TIGM1 | TRAPA | |
Cytomap | 6p12.3-p12.2 | 6p24.3 | |
Type of gene | protein-coding | protein-coding | |
Description | fibrocystinTIG multiple domains 1fibrocystin/polyductin complexpolycystic kidney and hepatic disease 1 (autosomal recessive)polycystic kidney and hepatic disease 1 proteinpolyductintigmin | translocon-associated protein subunit alphaSSR alpha subunitSSR-alphaTRAP alphasignal sequence receptor subunit alphasignal sequence receptor, alphatranslocon-associated protein alpha subunit | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P08F94 | P43307 | |
Ensembl transtripts involved in fusion gene | ENST00000371117, ENST00000340994, | ENST00000488834, ENST00000474597, ENST00000244763, ENST00000397511, ENST00000534851, ENST00000489567, ENST00000479365, ENST00000462112, | |
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 5 X 6 X 3=90 |
# samples | 3 | 6 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 |
TCGA | LD | PRAD | TCGA-EJ-7782-01A | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
* 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 |
5CDS-5UTR | ENST00000371117 | ENST00000488834 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000371117 | ENST00000474597 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000371117 | ENST00000244763 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000371117 | ENST00000397511 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000371117 | ENST00000534851 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000371117 | ENST00000489567 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000371117 | ENST00000479365 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000371117 | ENST00000462112 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-5UTR | ENST00000340994 | ENST00000488834 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000340994 | ENST00000474597 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000340994 | ENST00000244763 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000340994 | ENST00000397511 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000340994 | ENST00000534851 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000340994 | ENST00000489567 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000340994 | ENST00000479365 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
5CDS-intron | ENST00000340994 | ENST00000462112 | PKHD1 | chr6 | 51875107 | - | SSR1 | chr6 | 7334323 | - |
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FusionProtFeatures for PKHD1_SSR1 |
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Hgene | Tgene |
PKHD1 | SSR1 |
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}. |
![]() * 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 PKHD1_SSR1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PKHD1 | LGR4 | SSR1 | DKC1, 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 |
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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 PKHD1_SSR1 |
![]() (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 PKHD1_SSR1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PKHD1 | C0085548 | Autosomal Recessive Polycystic Kidney Disease | 11 | CTD_human;ORPHANET;UNIPROT |
Hgene | PKHD1 | C0008340 | Choledochal Cyst | 1 | CTD_human |