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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:PDCD6-TERT

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PDCD6-TERT
FusionPDB ID: 63623
FusionGDB2.0 ID: 63623
HgeneTgene
Gene symbol

PDCD6

TERT

Gene ID

10016

7015

Gene nameprogrammed cell death 6telomerase reverse transcriptase
SynonymsALG-2|ALG2|PEF1BCMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT
Cytomap

5p15.33

5p15.33

Type of geneprotein-codingprotein-coding
Descriptionprogrammed cell death protein 6apoptosis-linked gene 2 proteinapoptosis-linked gene 2 protein homologprobable calcium-binding protein ALG-2telomerase reverse transcriptasetelomerase catalytic subunittelomerase-associated protein 2
Modification date2020031320200329
UniProtAcc

O75340

.
Ensembl transtripts involved in fusion geneENST idsENST00000264933, ENST00000505221, 
ENST00000507528, ENST00000509581, 
ENST00000511482, 
ENST00000522877, 
ENST00000296820, ENST00000310581, 
ENST00000334602, ENST00000508104, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 2 X 4=2422 X 7 X 15=2310
# samples 431
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(31/2310*10)=-2.89755273102918
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PDCD6 [Title/Abstract] AND TERT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PDCD6(272887)-TERT(1282739), # samples:4
Anticipated loss of major functional domain due to fusion event.PDCD6-TERT 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.
PDCD6-TERT 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.
PDCD6-TERT 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.
PDCD6-TERT 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.
PDCD6-TERT seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted 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
HgenePDCD6

GO:0001938

positive regulation of endothelial cell proliferation

21893193

HgenePDCD6

GO:0006886

intracellular protein transport

21122810

HgenePDCD6

GO:0010595

positive regulation of endothelial cell migration

21893193

HgenePDCD6

GO:0030948

negative regulation of vascular endothelial growth factor receptor signaling pathway

21893193

HgenePDCD6

GO:0032007

negative regulation of TOR signaling

21893193

HgenePDCD6

GO:0034605

cellular response to heat

21122810

HgenePDCD6

GO:0036324

vascular endothelial growth factor receptor-2 signaling pathway

21893193

HgenePDCD6

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

16132846

HgenePDCD6

GO:0045766

positive regulation of angiogenesis

21893193

HgenePDCD6

GO:0051898

negative regulation of protein kinase B signaling

21893193

TgeneTERT

GO:0001172

transcription, RNA-templated

19701182

TgeneTERT

GO:0006278

RNA-dependent DNA biosynthetic process

9398860

TgeneTERT

GO:0007004

telomere maintenance via telomerase

9443919|16043710|17940095|19701182|21531765|29695869

TgeneTERT

GO:0007005

mitochondrion organization

21937513

TgeneTERT

GO:0010629

negative regulation of gene expression

11927518

TgeneTERT

GO:0022616

DNA strand elongation

16043710

TgeneTERT

GO:0030422

production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:0031647

regulation of protein stability

24415760|26194824

TgeneTERT

GO:0032092

positive regulation of protein binding

24415760

TgeneTERT

GO:0051000

positive regulation of nitric-oxide synthase activity

11927518

TgeneTERT

GO:0070200

establishment of protein localization to telomere

25589350

TgeneTERT

GO:0071897

DNA biosynthetic process

9398860|19701182

TgeneTERT

GO:1903704

negative regulation of production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:1904751

positive regulation of protein localization to nucleolus

24415760

TgeneTERT

GO:2000773

negative regulation of cellular senescence

11927518


check buttonFusion gene breakpoints across PDCD6 (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 TERT (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
ChimerDB4KICHTCGA-KN-8435-01APDCD6chr5

271936

+TERTchr5

1282739

-
ChimerDB4KICHTCGA-KN-8435-01APDCD6chr5

271936

-TERTchr5

1294781

-
ChimerDB4KIRCTCGA-BP-4991-01APDCD6chr5

272887

-TERTchr5

1282739

-
ChimerDB4KIRCTCGA-BP-4991-01APDCD6chr5

272887

+TERTchr5

1282739

-
ChimerDB4KIRCTCGA-BP-4991PDCD6chr5

272887

+TERTchr5

1282739

-


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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)
ENST00000264933PDCD6chr5272887+ENST00000310581TERTchr51282739-265026342088694
ENST00000264933PDCD6chr5272887+ENST00000334602TERTchr51282739-190026341899632
ENST00000264933PDCD6chr5272887+ENST00000508104TERTchr51282739-117626341113369
ENST00000505221PDCD6chr5272887+ENST00000310581TERTchr51282739-2624237202062680
ENST00000505221PDCD6chr5272887+ENST00000334602TERTchr51282739-1874237201873618
ENST00000505221PDCD6chr5272887+ENST00000508104TERTchr51282739-1150237201087355
ENST00000509581PDCD6chr5272887+ENST00000310581TERTchr51282739-2614227102052680
ENST00000509581PDCD6chr5272887+ENST00000334602TERTchr51282739-1864227101863618
ENST00000509581PDCD6chr5272887+ENST00000508104TERTchr51282739-1140227101077355
ENST00000507528PDCD6chr5272887+ENST00000310581TERTchr51282739-2614227102052680
ENST00000507528PDCD6chr5272887+ENST00000334602TERTchr51282739-1864227101863618
ENST00000507528PDCD6chr5272887+ENST00000508104TERTchr51282739-1140227101077355

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
ENST00000264933ENST00000310581PDCD6chr5272887+TERTchr51282739-0.025077330.97492266
ENST00000264933ENST00000334602PDCD6chr5272887+TERTchr51282739-0.0455858450.9544142
ENST00000264933ENST00000508104PDCD6chr5272887+TERTchr51282739-0.0887677150.91123235
ENST00000505221ENST00000310581PDCD6chr5272887+TERTchr51282739-0.0300876160.96991235
ENST00000505221ENST00000334602PDCD6chr5272887+TERTchr51282739-0.0478747040.9521254
ENST00000505221ENST00000508104PDCD6chr5272887+TERTchr51282739-0.052881590.9471184
ENST00000509581ENST00000310581PDCD6chr5272887+TERTchr51282739-0.029789850.9702102
ENST00000509581ENST00000334602PDCD6chr5272887+TERTchr51282739-0.048851030.951149
ENST00000509581ENST00000508104PDCD6chr5272887+TERTchr51282739-0.053732350.94626766
ENST00000507528ENST00000310581PDCD6chr5272887+TERTchr51282739-0.029789850.9702102
ENST00000507528ENST00000334602PDCD6chr5272887+TERTchr51282739-0.048851030.951149
ENST00000507528ENST00000508104PDCD6chr5272887+TERTchr51282739-0.053732350.94626766

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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

>63623_63623_1_PDCD6-TERT_PDCD6_chr5_272887_ENST00000264933_TERT_chr5_1282739_ENST00000310581_length(amino acids)=694AA_BP=1
MPGPAPGRGGSGVGLRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGC
VPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLT
SRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYF
VKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSL
NEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLV
RGVPEYGCVVNLRKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTFNRGFKAGRNMRRKLFGVL
RLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSE

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

>63623_63623_2_PDCD6-TERT_PDCD6_chr5_272887_ENST00000264933_TERT_chr5_1282739_ENST00000334602_length(amino acids)=632AA_BP=1
MPGPAPGRGGSGVGLRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGC
VPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLT
SRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYF
VKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSL
NEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLSYAR
TSIRASLTFNRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTAS
LCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAANPALPSDFKTIL

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

>63623_63623_3_PDCD6-TERT_PDCD6_chr5_272887_ENST00000264933_TERT_chr5_1282739_ENST00000508104_length(amino acids)=369AA_BP=1
MPGPAPGRGGSGVGLRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGC
VPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLT
SRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYF
VKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVLRPVPGDPAGLHPLHAALQPVLRRHGEQAVCGDSA

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

>63623_63623_4_PDCD6-TERT_PDCD6_chr5_272887_ENST00000505221_TERT_chr5_1282739_ENST00000310581_length(amino acids)=680AA_BP=1
MRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGCVPAAEHRLREEILA
KFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRP
IVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQ
DRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRF
MCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNLRK
TVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTFNRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVN
SLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKL

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

>63623_63623_5_PDCD6-TERT_PDCD6_chr5_272887_ENST00000505221_TERT_chr5_1282739_ENST00000334602_length(amino acids)=618AA_BP=1
MRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGCVPAAEHRLREEILA
KFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRP
IVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQ
DRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRF
MCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLSYARTSIRASLTFNRGFK
AGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMS

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

>63623_63623_6_PDCD6-TERT_PDCD6_chr5_272887_ENST00000505221_TERT_chr5_1282739_ENST00000508104_length(amino acids)=355AA_BP=1
MRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGCVPAAEHRLREEILA
KFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRP
IVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQ

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

>63623_63623_7_PDCD6-TERT_PDCD6_chr5_272887_ENST00000507528_TERT_chr5_1282739_ENST00000310581_length(amino acids)=680AA_BP=1
MRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGCVPAAEHRLREEILA
KFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRP
IVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQ
DRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRF
MCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNLRK
TVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTFNRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVN
SLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKL

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

>63623_63623_8_PDCD6-TERT_PDCD6_chr5_272887_ENST00000507528_TERT_chr5_1282739_ENST00000334602_length(amino acids)=618AA_BP=1
MRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGCVPAAEHRLREEILA
KFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRP
IVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQ
DRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRF
MCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLSYARTSIRASLTFNRGFK
AGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMS

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

>63623_63623_9_PDCD6-TERT_PDCD6_chr5_272887_ENST00000507528_TERT_chr5_1282739_ENST00000508104_length(amino acids)=355AA_BP=1
MRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGCVPAAEHRLREEILA
KFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRP
IVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQ

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

>63623_63623_10_PDCD6-TERT_PDCD6_chr5_272887_ENST00000509581_TERT_chr5_1282739_ENST00000310581_length(amino acids)=680AA_BP=1
MRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGCVPAAEHRLREEILA
KFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRP
IVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQ
DRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRF
MCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNLRK
TVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTFNRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVN
SLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKL

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

>63623_63623_11_PDCD6-TERT_PDCD6_chr5_272887_ENST00000509581_TERT_chr5_1282739_ENST00000334602_length(amino acids)=618AA_BP=1
MRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGCVPAAEHRLREEILA
KFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRP
IVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQ
DRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRF
MCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLSYARTSIRASLTFNRGFK
AGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMS

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

>63623_63623_12_PDCD6-TERT_PDCD6_chr5_272887_ENST00000509581_TERT_chr5_1282739_ENST00000508104_length(amino acids)=355AA_BP=1
MRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGCVPAAEHRLREEILA
KFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRP
IVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQ

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

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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/chr5:272887/chr5:1282739)
- 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
PDCD6

O75340

.
FUNCTION: Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes (PubMed:20691033, PubMed:25667979). Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:19520058). Together with PEF1, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway (PubMed:19864416). Promotes localization and polymerization of TFG at endoplasmic reticulum exit site (PubMed:27813252). Required for T-cell receptor-, Fas-, and glucocorticoid-induced apoptosis (By similarity). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity (PubMed:16132846). Its role in apoptosis may however be indirect, as suggested by knockout experiments (By similarity). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway (PubMed:21893193). In case of infection by HIV-1 virus, indirectly inhibits HIV-1 production by affecting viral Gag expression and distribution (PubMed:27784779). {ECO:0000250|UniProtKB:P12815, ECO:0000269|PubMed:16132846, ECO:0000269|PubMed:19520058, ECO:0000269|PubMed:19864416, ECO:0000269|PubMed:20691033, ECO:0000269|PubMed:21893193, ECO:0000269|PubMed:25667979, ECO:0000269|PubMed:27716508, ECO:0000269|PubMed:27784779, ECO:0000269|PubMed:27813252}.; FUNCTION: [Isoform 2]: Has a lower Ca(2+) affinity than isoform 1 (By similarity). {ECO:0000250|UniProtKB:P12815}.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
HgenePDCD6chr5:272887chr5:1282739ENST00000264933+2636_4754.333333333333336192.0Calcium binding1
HgenePDCD6chr5:272887chr5:1282739ENST00000505221+2436_4754.33333333333333670.0Calcium binding1
HgenePDCD6chr5:272887chr5:1282739ENST00000507528+2636_4754.333333333333336190.0Calcium binding1
TgeneTERTchr5:272887chr5:1282739ENST00000296820114605_935524.3333333333334445.6666666666667DomainReverse transcriptase
TgeneTERTchr5:272887chr5:1282739ENST00000310581116605_935524.33333333333341133.0DomainReverse transcriptase
TgeneTERTchr5:272887chr5:1282739ENST00000334602115605_935524.33333333333341070.0DomainReverse transcriptase
TgeneTERTchr5:272887chr5:1282739ENST0000050810418605_935524.3333333333334808.0DomainReverse transcriptase
TgeneTERTchr5:272887chr5:1282739ENST00000296820114914_928524.3333333333334445.6666666666667RegionNote=Required for oligomerization
TgeneTERTchr5:272887chr5:1282739ENST00000296820114936_1132524.3333333333334445.6666666666667RegionNote=CTE
TgeneTERTchr5:272887chr5:1282739ENST00000310581116914_928524.33333333333341133.0RegionNote=Required for oligomerization
TgeneTERTchr5:272887chr5:1282739ENST00000310581116936_1132524.33333333333341133.0RegionNote=CTE
TgeneTERTchr5:272887chr5:1282739ENST00000334602115914_928524.33333333333341070.0RegionNote=Required for oligomerization
TgeneTERTchr5:272887chr5:1282739ENST00000334602115936_1132524.33333333333341070.0RegionNote=CTE
TgeneTERTchr5:272887chr5:1282739ENST0000050810418914_928524.3333333333334808.0RegionNote=Required for oligomerization
TgeneTERTchr5:272887chr5:1282739ENST0000050810418936_1132524.3333333333334808.0RegionNote=CTE

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePDCD6chr5:272887chr5:1282739ENST00000264933+26103_11454.333333333333336192.0Calcium binding3
HgenePDCD6chr5:272887chr5:1282739ENST00000264933+2673_8454.333333333333336192.0Calcium binding2
HgenePDCD6chr5:272887chr5:1282739ENST00000505221+24103_11454.33333333333333670.0Calcium binding3
HgenePDCD6chr5:272887chr5:1282739ENST00000505221+2473_8454.33333333333333670.0Calcium binding2
HgenePDCD6chr5:272887chr5:1282739ENST00000507528+26103_11454.333333333333336190.0Calcium binding3
HgenePDCD6chr5:272887chr5:1282739ENST00000507528+2673_8454.333333333333336190.0Calcium binding2
HgenePDCD6chr5:272887chr5:1282739ENST00000264933+26126_16154.333333333333336192.0DomainEF-hand 4
HgenePDCD6chr5:272887chr5:1282739ENST00000264933+26162_19154.333333333333336192.0DomainEF-hand 5
HgenePDCD6chr5:272887chr5:1282739ENST00000264933+2623_5854.333333333333336192.0DomainEF-hand 1
HgenePDCD6chr5:272887chr5:1282739ENST00000264933+2659_8954.333333333333336192.0DomainEF-hand 2
HgenePDCD6chr5:272887chr5:1282739ENST00000264933+2690_12554.333333333333336192.0DomainEF-hand 3
HgenePDCD6chr5:272887chr5:1282739ENST00000505221+24126_16154.33333333333333670.0DomainEF-hand 4
HgenePDCD6chr5:272887chr5:1282739ENST00000505221+24162_19154.33333333333333670.0DomainEF-hand 5
HgenePDCD6chr5:272887chr5:1282739ENST00000505221+2423_5854.33333333333333670.0DomainEF-hand 1
HgenePDCD6chr5:272887chr5:1282739ENST00000505221+2459_8954.33333333333333670.0DomainEF-hand 2
HgenePDCD6chr5:272887chr5:1282739ENST00000505221+2490_12554.33333333333333670.0DomainEF-hand 3
HgenePDCD6chr5:272887chr5:1282739ENST00000507528+26126_16154.333333333333336190.0DomainEF-hand 4
HgenePDCD6chr5:272887chr5:1282739ENST00000507528+26162_19154.333333333333336190.0DomainEF-hand 5
HgenePDCD6chr5:272887chr5:1282739ENST00000507528+2623_5854.333333333333336190.0DomainEF-hand 1
HgenePDCD6chr5:272887chr5:1282739ENST00000507528+2659_8954.333333333333336190.0DomainEF-hand 2
HgenePDCD6chr5:272887chr5:1282739ENST00000507528+2690_12554.333333333333336190.0DomainEF-hand 3
TgeneTERTchr5:272887chr5:1282739ENST00000296820114222_240524.3333333333334445.6666666666667MotifNote=Bipartite nuclear localization signal
TgeneTERTchr5:272887chr5:1282739ENST00000296820114328_333524.3333333333334445.6666666666667MotifTFLY%3B involved in RNA binding
TgeneTERTchr5:272887chr5:1282739ENST00000310581116222_240524.33333333333341133.0MotifNote=Bipartite nuclear localization signal
TgeneTERTchr5:272887chr5:1282739ENST00000310581116328_333524.33333333333341133.0MotifTFLY%3B involved in RNA binding
TgeneTERTchr5:272887chr5:1282739ENST00000334602115222_240524.33333333333341070.0MotifNote=Bipartite nuclear localization signal
TgeneTERTchr5:272887chr5:1282739ENST00000334602115328_333524.33333333333341070.0MotifTFLY%3B involved in RNA binding
TgeneTERTchr5:272887chr5:1282739ENST0000050810418222_240524.3333333333334808.0MotifNote=Bipartite nuclear localization signal
TgeneTERTchr5:272887chr5:1282739ENST0000050810418328_333524.3333333333334808.0MotifTFLY%3B involved in RNA binding
TgeneTERTchr5:272887chr5:1282739ENST000002968201141_230524.3333333333334445.6666666666667RegionNote=RNA-interacting domain 1
TgeneTERTchr5:272887chr5:1282739ENST00000296820114231_324524.3333333333334445.6666666666667RegionNote=Linker
TgeneTERTchr5:272887chr5:1282739ENST00000296820114301_538524.3333333333334445.6666666666667RegionNote=Required for oligomerization
TgeneTERTchr5:272887chr5:1282739ENST00000296820114325_550524.3333333333334445.6666666666667RegionNote=RNA-interacting domain 2
TgeneTERTchr5:272887chr5:1282739ENST00000296820114376_521524.3333333333334445.6666666666667RegionNote=QFP motif
TgeneTERTchr5:272887chr5:1282739ENST00000296820114397_417524.3333333333334445.6666666666667RegionNote=CP motif
TgeneTERTchr5:272887chr5:1282739ENST0000029682011458_197524.3333333333334445.6666666666667RegionNote=GQ motif
TgeneTERTchr5:272887chr5:1282739ENST000003105811161_230524.33333333333341133.0RegionNote=RNA-interacting domain 1
TgeneTERTchr5:272887chr5:1282739ENST00000310581116231_324524.33333333333341133.0RegionNote=Linker
TgeneTERTchr5:272887chr5:1282739ENST00000310581116301_538524.33333333333341133.0RegionNote=Required for oligomerization
TgeneTERTchr5:272887chr5:1282739ENST00000310581116325_550524.33333333333341133.0RegionNote=RNA-interacting domain 2
TgeneTERTchr5:272887chr5:1282739ENST00000310581116376_521524.33333333333341133.0RegionNote=QFP motif
TgeneTERTchr5:272887chr5:1282739ENST00000310581116397_417524.33333333333341133.0RegionNote=CP motif
TgeneTERTchr5:272887chr5:1282739ENST0000031058111658_197524.33333333333341133.0RegionNote=GQ motif
TgeneTERTchr5:272887chr5:1282739ENST000003346021151_230524.33333333333341070.0RegionNote=RNA-interacting domain 1
TgeneTERTchr5:272887chr5:1282739ENST00000334602115231_324524.33333333333341070.0RegionNote=Linker
TgeneTERTchr5:272887chr5:1282739ENST00000334602115301_538524.33333333333341070.0RegionNote=Required for oligomerization
TgeneTERTchr5:272887chr5:1282739ENST00000334602115325_550524.33333333333341070.0RegionNote=RNA-interacting domain 2
TgeneTERTchr5:272887chr5:1282739ENST00000334602115376_521524.33333333333341070.0RegionNote=QFP motif
TgeneTERTchr5:272887chr5:1282739ENST00000334602115397_417524.33333333333341070.0RegionNote=CP motif
TgeneTERTchr5:272887chr5:1282739ENST0000033460211558_197524.33333333333341070.0RegionNote=GQ motif
TgeneTERTchr5:272887chr5:1282739ENST00000508104181_230524.3333333333334808.0RegionNote=RNA-interacting domain 1
TgeneTERTchr5:272887chr5:1282739ENST0000050810418231_324524.3333333333334808.0RegionNote=Linker
TgeneTERTchr5:272887chr5:1282739ENST0000050810418301_538524.3333333333334808.0RegionNote=Required for oligomerization
TgeneTERTchr5:272887chr5:1282739ENST0000050810418325_550524.3333333333334808.0RegionNote=RNA-interacting domain 2
TgeneTERTchr5:272887chr5:1282739ENST0000050810418376_521524.3333333333334808.0RegionNote=QFP motif
TgeneTERTchr5:272887chr5:1282739ENST0000050810418397_417524.3333333333334808.0RegionNote=CP motif
TgeneTERTchr5:272887chr5:1282739ENST000005081041858_197524.3333333333334808.0RegionNote=GQ motif


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>1423_PDCD6_272887_TERT_1282739_ranked_0.pdbPDCD6272887272887ENST00000508104TERTchr51282739-
MPGPAPGRGGSGVGLRGLSSLQAPQPSRVPWPMAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGVGC
VPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLT
SRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYF
VKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSL
NEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLV
RGVPEYGCVVNLRKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTFNRGFKAGRNMRRKLFGVL
RLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSE
694


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
PDCD6_pLDDT.png
all structure
all structure
TERT_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
PDCD6
TERT


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 PDCD6-TERT


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 PDCD6-TERT


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