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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:PLLP-CNGB1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PLLP-CNGB1
FusionPDB ID: 66381
FusionGDB2.0 ID: 66381
HgeneTgene
Gene symbol

PLLP

CNGB1

Gene ID

51090

1258

Gene nameplasmolipincyclic nucleotide gated channel subunit beta 1
SynonymsPMLP|TM4SF11CNCG2|CNCG3L|CNCG4|CNG4|CNGB1B|GAR1|GARP|GARP2|RCNC2|RCNCb|RCNCbeta|RP45
Cytomap

16q13

16q21

Type of geneprotein-codingprotein-coding
Descriptionplasmolipinplasma membrane proteolipid (plasmolipin)transmembrane 4 superfamily member 11 (plasmolipin)cyclic nucleotide-gated cation channel beta-1CNG channel beta-1CNG-4cyclic nucleotide gated channel beta 1cyclic nucleotide-gated cation channel 4cyclic nucleotide-gated cation channel gammacyclic nucleotide-gated cation channel modulatory subunitg
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000219207, ENST00000569059, 
ENST00000311183, ENST00000564654, 
ENST00000251102, ENST00000564448, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=85 X 7 X 5=175
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PLLP [Title/Abstract] AND CNGB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PLLP(57318318)-CNGB1(57946898), # samples:1
Anticipated loss of major functional domain due to fusion event.PLLP-CNGB1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PLLP-CNGB1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PLLP-CNGB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PLLP-CNGB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
TgeneCNGB1

GO:0006812

cation transport

24164424


check buttonFusion gene breakpoints across PLLP (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CNGB1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4UCECTCGA-EY-A54A-01APLLPchr16

57318318

-CNGB1chr16

57946898

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000219207PLLPchr1657318318-ENST00000564448CNGB1chr1657946898-22992821471733528
ENST00000219207PLLPchr1657318318-ENST00000251102CNGB1chr1657946898-20962821471733528
ENST00000569059PLLPchr1657318318-ENST00000564448CNGB1chr1657946898-22842671321718528
ENST00000569059PLLPchr1657318318-ENST00000251102CNGB1chr1657946898-20812671321718528

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000219207ENST00000564448PLLPchr1657318318-CNGB1chr1657946898-0.0165526030.98344743
ENST00000219207ENST00000251102PLLPchr1657318318-CNGB1chr1657946898-0.018522850.9814772
ENST00000569059ENST00000564448PLLPchr1657318318-CNGB1chr1657946898-0.0160997270.9839003
ENST00000569059ENST00000251102PLLPchr1657318318-CNGB1chr1657946898-0.0180169440.98198307

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>66381_66381_1_PLLP-CNGB1_PLLP_chr16_57318318_ENST00000219207_CNGB1_chr16_57946898_ENST00000251102_length(amino acids)=528AA_BP=34
MAEFPSKVSTRTSSPAQGAEASVSALRPDLGFVRSRLGALMLLQLYMAFFEFNSRLESILSKAYVYRVIRTTAYLLYSLHLNSCLYYWAS
AYQGLGSTHWVYDGVGNSYIRCYYFAVKTLITIGGLPDPKTLFEIVFQLLNYFTGVFAFSVMIGQMRDVVGAATAGQTYYRSCMDSTVKY
MNFYKIPKSVQNRVKTWYEYTWHSQGMLDESELMVQLPDKMRLDLAIDVNYNIVSKVALFQGCDRQMIFDMLKRLRSVVYLPNDYVCKKG
EIGREMYIIQAGQVQVLGGPDGKSVLVTLKAGSVFGEISLLAVGGGNRRTANVVAHGFTNLFILDKKDLNEILVHYPESQKLLRKKARRM
LRSNNKPKEEKSVLILPPRAGTPKLFNAALAMTGKMGGKGAKGGKLAHLRARLKELAALEAAAKQQELVEQAKSSQDVKGEEGSAAPDQH

--------------------------------------------------------------

>66381_66381_2_PLLP-CNGB1_PLLP_chr16_57318318_ENST00000219207_CNGB1_chr16_57946898_ENST00000564448_length(amino acids)=528AA_BP=34
MAEFPSKVSTRTSSPAQGAEASVSALRPDLGFVRSRLGALMLLQLYMAFFEFNSRLESILSKAYVYRVIRTTAYLLYSLHLNSCLYYWAS
AYQGLGSTHWVYDGVGNSYIRCYYFAVKTLITIGGLPDPKTLFEIVFQLLNYFTGVFAFSVMIGQMRDVVGAATAGQTYYRSCMDSTVKY
MNFYKIPKSVQNRVKTWYEYTWHSQGMLDESELMVQLPDKMRLDLAIDVNYNIVSKVALFQGCDRQMIFDMLKRLRSVVYLPNDYVCKKG
EIGREMYIIQAGQVQVLGGPDGKSVLVTLKAGSVFGEISLLAVGGGNRRTANVVAHGFTNLFILDKKDLNEILVHYPESQKLLRKKARRM
LRSNNKPKEEKSVLILPPRAGTPKLFNAALAMTGKMGGKGAKGGKLAHLRARLKELAALEAAAKQQELVEQAKSSQDVKGEEGSAAPDQH

--------------------------------------------------------------

>66381_66381_3_PLLP-CNGB1_PLLP_chr16_57318318_ENST00000569059_CNGB1_chr16_57946898_ENST00000251102_length(amino acids)=528AA_BP=34
MAEFPSKVSTRTSSPAQGAEASVSALRPDLGFVRSRLGALMLLQLYMAFFEFNSRLESILSKAYVYRVIRTTAYLLYSLHLNSCLYYWAS
AYQGLGSTHWVYDGVGNSYIRCYYFAVKTLITIGGLPDPKTLFEIVFQLLNYFTGVFAFSVMIGQMRDVVGAATAGQTYYRSCMDSTVKY
MNFYKIPKSVQNRVKTWYEYTWHSQGMLDESELMVQLPDKMRLDLAIDVNYNIVSKVALFQGCDRQMIFDMLKRLRSVVYLPNDYVCKKG
EIGREMYIIQAGQVQVLGGPDGKSVLVTLKAGSVFGEISLLAVGGGNRRTANVVAHGFTNLFILDKKDLNEILVHYPESQKLLRKKARRM
LRSNNKPKEEKSVLILPPRAGTPKLFNAALAMTGKMGGKGAKGGKLAHLRARLKELAALEAAAKQQELVEQAKSSQDVKGEEGSAAPDQH

--------------------------------------------------------------

>66381_66381_4_PLLP-CNGB1_PLLP_chr16_57318318_ENST00000569059_CNGB1_chr16_57946898_ENST00000564448_length(amino acids)=528AA_BP=34
MAEFPSKVSTRTSSPAQGAEASVSALRPDLGFVRSRLGALMLLQLYMAFFEFNSRLESILSKAYVYRVIRTTAYLLYSLHLNSCLYYWAS
AYQGLGSTHWVYDGVGNSYIRCYYFAVKTLITIGGLPDPKTLFEIVFQLLNYFTGVFAFSVMIGQMRDVVGAATAGQTYYRSCMDSTVKY
MNFYKIPKSVQNRVKTWYEYTWHSQGMLDESELMVQLPDKMRLDLAIDVNYNIVSKVALFQGCDRQMIFDMLKRLRSVVYLPNDYVCKKG
EIGREMYIIQAGQVQVLGGPDGKSVLVTLKAGSVFGEISLLAVGGGNRRTANVVAHGFTNLFILDKKDLNEILVHYPESQKLLRKKARRM
LRSNNKPKEEKSVLILPPRAGTPKLFNAALAMTGKMGGKGAKGGKLAHLRARLKELAALEAAAKQQELVEQAKSSQDVKGEEGSAAPDQH

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:57318318/chr16:57946898)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-141_3545.0183.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013171_2520300.0Compositional biasNote=Pro-rich
TgeneCNGB1chr16:57318318chr16:57946898ENST0000031118301323_630300.0Compositional biasNote=Glu-rich
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013351_3710300.0Compositional biasNote=Poly-Glu
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013568_5780300.0MotifNote=IQ-like
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233970_1109768.01252.0Nucleotide bindingcAMP
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013970_11090300.0Nucleotide bindingcAMP
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233970_1109762.01246.0Nucleotide bindingcAMP
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233814_857768.01252.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233878_961768.01252.0Topological domainExtracellular
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233983_1251768.01252.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013343_6560300.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013676_6890300.0Topological domainExtracellular
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013709_7330300.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013754_7900300.0Topological domainExtracellular
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013814_8570300.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013878_9610300.0Topological domainExtracellular
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013983_12510300.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233814_857762.01246.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233878_961762.01246.0Topological domainExtracellular
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233983_1251762.01246.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233791_813768.01252.0TransmembraneHelical%3B Name%3DH4
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233858_877768.01252.0TransmembraneHelical%3B Name%3DH5
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233962_982768.01252.0TransmembraneHelical%3B Name%3DH6
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013657_6750300.0TransmembraneHelical%3B Name%3DH1
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013690_7080300.0TransmembraneHelical%3B Name%3DH2
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013734_7530300.0TransmembraneHelical%3B Name%3DH3
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013791_8130300.0TransmembraneHelical%3B Name%3DH4
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013858_8770300.0TransmembraneHelical%3B Name%3DH5
TgeneCNGB1chr16:57318318chr16:57946898ENST00000311183013962_9820300.0TransmembraneHelical%3B Name%3DH6
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233791_813762.01246.0TransmembraneHelical%3B Name%3DH4
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233858_877762.01246.0TransmembraneHelical%3B Name%3DH5
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233962_982762.01246.0TransmembraneHelical%3B Name%3DH6

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-1432_16645.0183.0DomainMARVEL
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-14121_14145.0183.0Topological domainExtracellular
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-14163_18245.0183.0Topological domainCytoplasmic
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-1457_6845.0183.0Topological domainExtracellular
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-1490_9945.0183.0Topological domainCytoplasmic
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-14100_12045.0183.0TransmembraneHelical
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-14142_16245.0183.0TransmembraneHelical
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-1436_5645.0183.0TransmembraneHelical
HgenePLLPchr16:57318318chr16:57946898ENST00000219207-1469_8945.0183.0TransmembraneHelical
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233171_252768.01252.0Compositional biasNote=Pro-rich
TgeneCNGB1chr16:57318318chr16:57946898ENST00000251102223323_63768.01252.0Compositional biasNote=Glu-rich
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233351_371768.01252.0Compositional biasNote=Poly-Glu
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233171_252762.01246.0Compositional biasNote=Pro-rich
TgeneCNGB1chr16:57318318chr16:57946898ENST00000564448223323_63762.01246.0Compositional biasNote=Glu-rich
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233351_371762.01246.0Compositional biasNote=Poly-Glu
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233568_578768.01252.0MotifNote=IQ-like
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233568_578762.01246.0MotifNote=IQ-like
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233343_656768.01252.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233676_689768.01252.0Topological domainExtracellular
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233709_733768.01252.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233754_790768.01252.0Topological domainExtracellular
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233343_656762.01246.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233676_689762.01246.0Topological domainExtracellular
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233709_733762.01246.0Topological domainCytoplasmic
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233754_790762.01246.0Topological domainExtracellular
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233657_675768.01252.0TransmembraneHelical%3B Name%3DH1
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233690_708768.01252.0TransmembraneHelical%3B Name%3DH2
TgeneCNGB1chr16:57318318chr16:57946898ENST000002511022233734_753768.01252.0TransmembraneHelical%3B Name%3DH3
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233657_675762.01246.0TransmembraneHelical%3B Name%3DH1
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233690_708762.01246.0TransmembraneHelical%3B Name%3DH2
TgeneCNGB1chr16:57318318chr16:57946898ENST000005644482233734_753762.01246.0TransmembraneHelical%3B Name%3DH3


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
PLLP
CNGB1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to PLLP-CNGB1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to PLLP-CNGB1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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