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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:ITPK1-BTBD7

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITPK1-BTBD7
FusionPDB ID: 40651
FusionGDB2.0 ID: 40651
HgeneTgene
Gene symbol

ITPK1

BTBD7

Gene ID

3705

55727

Gene nameinositol-tetrakisphosphate 1-kinaseBTB domain containing 7
SynonymsITRPK1FUP1
Cytomap

14q32.12

14q32.12

Type of geneprotein-codingprotein-coding
Descriptioninositol-tetrakisphosphate 1-kinaseinositol 1,3,4-trisphosphate 5/6-kinaseins(1,3,4)P(3) 5/6-kinaseBTB/POZ domain-containing protein 7BTB (POZ) domain containing 7
Modification date2020031320200313
UniProtAcc

Q13572

Q9P203

Ensembl transtripts involved in fusion geneENST idsENST00000267615, ENST00000354313, 
ENST00000555495, ENST00000556603, 
ENST00000556954, 		ENST00000298896, 
ENST00000393170, ENST00000555525, 
ENST00000334746, ENST00000554565, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 12 X 8=9604 X 6 X 5=120
# samples 147
** MAII scorelog2(14/960*10)=-2.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ITPK1 [Title/Abstract] AND BTBD7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ITPK1(93542939)-BTBD7(93730339), # samples:2
ITPK1(93542940)-BTBD7(93730339), # samples:2
ITPK1(93418291)-BTBD7(93717998), # samples:2
Anticipated loss of major functional domain due to fusion event.ITPK1-BTBD7 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.
ITPK1-BTBD7 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.
ITPK1-BTBD7 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.
ITPK1-BTBD7 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.
ITPK1-BTBD7 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ITPK1-BTBD7 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across ITPK1 (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 BTBD7 (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
ChimerDB4ESCATCGA-L5-A4ON-01AITPK1chr14

93542940

-BTBD7chr14

93730339

-
ChimerDB4ESCATCGA-L5-A4ONITPK1chr14

93542939

-BTBD7chr14

93730339

-
ChimerDB4ESCATCGA-L5-A4ONITPK1chr14

93542940

-BTBD7chr14

93730339

-
ChimerDB4LUADTCGA-38-4630-01AITPK1chr14

93418291

-BTBD7chr14

93717998

-
ChimerDB4LUADTCGA-38-4630ITPK1chr14

93418290

-BTBD7chr14

93717998

-
ChimerDB4OVTCGA-20-1683-01AITPK1chr14

93542940

-BTBD7chr14

93720136

-


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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)
ENST00000556603ITPK1chr1493542939-ENST00000334746BTBD7chr1493730339-72012411562477773
ENST00000556603ITPK1chr1493542939-ENST00000554565BTBD7chr1493730339-27182411562477773
ENST00000555495ITPK1chr1493418290-ENST00000334746BTBD7chr1493717998-71998291512475774
ENST00000555495ITPK1chr1493418290-ENST00000554565BTBD7chr1493717998-27168291512475774
ENST00000555495ITPK1chr1493418290-ENST00000393170BTBD7chr1493717998-27118291512475774
ENST00000556603ITPK1chr1493542940-ENST00000334746BTBD7chr1493730339-72012411562477773
ENST00000556603ITPK1chr1493542940-ENST00000554565BTBD7chr1493730339-27182411562477773
ENST00000555495ITPK1chr1493418291-ENST00000334746BTBD7chr1493717998-71998291512475774
ENST00000555495ITPK1chr1493418291-ENST00000554565BTBD7chr1493717998-27168291512475774
ENST00000555495ITPK1chr1493418291-ENST00000393170BTBD7chr1493717998-27118291512475774

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
ENST00000556603ENST00000334746ITPK1chr1493542939-BTBD7chr1493730339-0.0008550660.9991449
ENST00000556603ENST00000554565ITPK1chr1493542939-BTBD7chr1493730339-0.011332780.9886672
ENST00000555495ENST00000334746ITPK1chr1493418290-BTBD7chr1493717998-0.0016456050.99835443
ENST00000555495ENST00000554565ITPK1chr1493418290-BTBD7chr1493717998-0.020124150.9798758
ENST00000555495ENST00000393170ITPK1chr1493418290-BTBD7chr1493717998-0.0205466840.97945327
ENST00000556603ENST00000334746ITPK1chr1493542940-BTBD7chr1493730339-0.0008550660.9991449
ENST00000556603ENST00000554565ITPK1chr1493542940-BTBD7chr1493730339-0.011332780.9886672
ENST00000555495ENST00000334746ITPK1chr1493418291-BTBD7chr1493717998-0.0016456050.99835443
ENST00000555495ENST00000554565ITPK1chr1493418291-BTBD7chr1493717998-0.020124150.9798758
ENST00000555495ENST00000393170ITPK1chr1493418291-BTBD7chr1493717998-0.0205466840.97945327

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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

>40651_40651_1_ITPK1-BTBD7_ITPK1_chr14_93418290_ENST00000555495_BTBD7_chr14_93717998_ENST00000334746_length(amino acids)=774AA_BP=226
MAEREENQEAEFPGLRRAVQLNLSRPIEEQGPLDVIIHKLTDVILEADQNDSQSLELVHRFQEYIDAHPETIVLDPLPAIRTLLDRSKSY
ELIRKIEAYMEDDRICSPPFMELTSLCGDDTMRLLEKNGLTFPFICKTRVAHGTNSHEMAIVFNQEGLNAIQPPCVVQNFINHNAVLYKV
FVVGESYTVVQRPSLKNFSAGTSDRESIFFNSHNVSKPESSSVLTESVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISH
QQISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERF
GDESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAP
KAGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELS
QSVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGL
KSAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSAC

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

>40651_40651_2_ITPK1-BTBD7_ITPK1_chr14_93418290_ENST00000555495_BTBD7_chr14_93717998_ENST00000393170_length(amino acids)=774AA_BP=226
MAEREENQEAEFPGLRRAVQLNLSRPIEEQGPLDVIIHKLTDVILEADQNDSQSLELVHRFQEYIDAHPETIVLDPLPAIRTLLDRSKSY
ELIRKIEAYMEDDRICSPPFMELTSLCGDDTMRLLEKNGLTFPFICKTRVAHGTNSHEMAIVFNQEGLNAIQPPCVVQNFINHNAVLYKV
FVVGESYTVVQRPSLKNFSAGTSDRESIFFNSHNVSKPESSSVLTESVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISH
QQISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERF
GDESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAP
KAGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELS
QSVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGL
KSAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSAC

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

>40651_40651_3_ITPK1-BTBD7_ITPK1_chr14_93418290_ENST00000555495_BTBD7_chr14_93717998_ENST00000554565_length(amino acids)=774AA_BP=226
MAEREENQEAEFPGLRRAVQLNLSRPIEEQGPLDVIIHKLTDVILEADQNDSQSLELVHRFQEYIDAHPETIVLDPLPAIRTLLDRSKSY
ELIRKIEAYMEDDRICSPPFMELTSLCGDDTMRLLEKNGLTFPFICKTRVAHGTNSHEMAIVFNQEGLNAIQPPCVVQNFINHNAVLYKV
FVVGESYTVVQRPSLKNFSAGTSDRESIFFNSHNVSKPESSSVLTESVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISH
QQISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERF
GDESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAP
KAGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELS
QSVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGL
KSAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSAC

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

>40651_40651_4_ITPK1-BTBD7_ITPK1_chr14_93418291_ENST00000555495_BTBD7_chr14_93717998_ENST00000334746_length(amino acids)=774AA_BP=226
MAEREENQEAEFPGLRRAVQLNLSRPIEEQGPLDVIIHKLTDVILEADQNDSQSLELVHRFQEYIDAHPETIVLDPLPAIRTLLDRSKSY
ELIRKIEAYMEDDRICSPPFMELTSLCGDDTMRLLEKNGLTFPFICKTRVAHGTNSHEMAIVFNQEGLNAIQPPCVVQNFINHNAVLYKV
FVVGESYTVVQRPSLKNFSAGTSDRESIFFNSHNVSKPESSSVLTESVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISH
QQISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERF
GDESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAP
KAGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELS
QSVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGL
KSAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSAC

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

>40651_40651_5_ITPK1-BTBD7_ITPK1_chr14_93418291_ENST00000555495_BTBD7_chr14_93717998_ENST00000393170_length(amino acids)=774AA_BP=226
MAEREENQEAEFPGLRRAVQLNLSRPIEEQGPLDVIIHKLTDVILEADQNDSQSLELVHRFQEYIDAHPETIVLDPLPAIRTLLDRSKSY
ELIRKIEAYMEDDRICSPPFMELTSLCGDDTMRLLEKNGLTFPFICKTRVAHGTNSHEMAIVFNQEGLNAIQPPCVVQNFINHNAVLYKV
FVVGESYTVVQRPSLKNFSAGTSDRESIFFNSHNVSKPESSSVLTESVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISH
QQISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERF
GDESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAP
KAGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELS
QSVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGL
KSAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSAC

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

>40651_40651_6_ITPK1-BTBD7_ITPK1_chr14_93418291_ENST00000555495_BTBD7_chr14_93717998_ENST00000554565_length(amino acids)=774AA_BP=226
MAEREENQEAEFPGLRRAVQLNLSRPIEEQGPLDVIIHKLTDVILEADQNDSQSLELVHRFQEYIDAHPETIVLDPLPAIRTLLDRSKSY
ELIRKIEAYMEDDRICSPPFMELTSLCGDDTMRLLEKNGLTFPFICKTRVAHGTNSHEMAIVFNQEGLNAIQPPCVVQNFINHNAVLYKV
FVVGESYTVVQRPSLKNFSAGTSDRESIFFNSHNVSKPESSSVLTESVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISH
QQISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERF
GDESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAP
KAGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELS
QSVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGL
KSAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSAC

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

>40651_40651_7_ITPK1-BTBD7_ITPK1_chr14_93542939_ENST00000556603_BTBD7_chr14_93730339_ENST00000334746_length(amino acids)=773AA_BP=28
MAEREENQEAEFPGLRRAVQEARDGGCAGCEDIIAESISLDTLIAILKWSSHPYGSKWVHRQALHFLCEEFSQVMTSDVFYELSKDHLLT
AIQSDYLQASEQDILKYLIKWGEHQLMKRIADREPNLLSGTAHSVNKRGVKRRDLDMEELREILSSLLPFVRIEHILPINSEVLSDAMKR
GLISTPPSDMLPTTEGGKSNAWLRQKNAGIYVRPRLFSPYVEEAKSVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISHQ
QISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERFG
DESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAPK
AGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELSQ
SVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGLK
SAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSACS

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

>40651_40651_8_ITPK1-BTBD7_ITPK1_chr14_93542939_ENST00000556603_BTBD7_chr14_93730339_ENST00000554565_length(amino acids)=773AA_BP=28
MAEREENQEAEFPGLRRAVQEARDGGCAGCEDIIAESISLDTLIAILKWSSHPYGSKWVHRQALHFLCEEFSQVMTSDVFYELSKDHLLT
AIQSDYLQASEQDILKYLIKWGEHQLMKRIADREPNLLSGTAHSVNKRGVKRRDLDMEELREILSSLLPFVRIEHILPINSEVLSDAMKR
GLISTPPSDMLPTTEGGKSNAWLRQKNAGIYVRPRLFSPYVEEAKSVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISHQ
QISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERFG
DESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAPK
AGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELSQ
SVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGLK
SAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSACS

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

>40651_40651_9_ITPK1-BTBD7_ITPK1_chr14_93542940_ENST00000556603_BTBD7_chr14_93730339_ENST00000334746_length(amino acids)=773AA_BP=28
MAEREENQEAEFPGLRRAVQEARDGGCAGCEDIIAESISLDTLIAILKWSSHPYGSKWVHRQALHFLCEEFSQVMTSDVFYELSKDHLLT
AIQSDYLQASEQDILKYLIKWGEHQLMKRIADREPNLLSGTAHSVNKRGVKRRDLDMEELREILSSLLPFVRIEHILPINSEVLSDAMKR
GLISTPPSDMLPTTEGGKSNAWLRQKNAGIYVRPRLFSPYVEEAKSVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISHQ
QISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERFG
DESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAPK
AGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELSQ
SVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGLK
SAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSACS

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

>40651_40651_10_ITPK1-BTBD7_ITPK1_chr14_93542940_ENST00000556603_BTBD7_chr14_93730339_ENST00000554565_length(amino acids)=773AA_BP=28
MAEREENQEAEFPGLRRAVQEARDGGCAGCEDIIAESISLDTLIAILKWSSHPYGSKWVHRQALHFLCEEFSQVMTSDVFYELSKDHLLT
AIQSDYLQASEQDILKYLIKWGEHQLMKRIADREPNLLSGTAHSVNKRGVKRRDLDMEELREILSSLLPFVRIEHILPINSEVLSDAMKR
GLISTPPSDMLPTTEGGKSNAWLRQKNAGIYVRPRLFSPYVEEAKSVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISHQ
QISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERFG
DESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAPK
AGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELSQ
SVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGLK
SAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSACS

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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/chr14:93542939/chr14:93730339)
- 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
ITPK1

Q13572

BTBD7

Q9P203

FUNCTION: Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3. Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5. This reaction is thought to have regulatory importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential molecule in the hexakisphosphate (InsP6) pathway. Also acts as an inositol polyphosphate phosphatase that dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May also act as an isomerase that interconverts the inositol tetrakisphosphate isomers Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 in the presence of ADP and magnesium. Probably acts as the rate-limiting enzyme of the InsP6 pathway. Modifies TNF-alpha-induced apoptosis by interfering with the activation of TNFRSF1A-associated death domain (PubMed:11909533, PubMed:12925536, PubMed:17616525). Plays an important role in MLKL-mediated necroptosis. Produces highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which bind to MLKL mediating the release of an N-terminal auto-inhibitory region leading to its activation. Essential for activated phospho-MLKL to oligomerize and localize to the cell membrane during necroptosis (PubMed:17616525). {ECO:0000269|PubMed:11909533, ECO:0000269|PubMed:12925536, ECO:0000269|PubMed:17616525}.FUNCTION: Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell-scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity). {ECO:0000250}.

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

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* 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
HgeneITPK1chr14:93418290chr14:93717998ENST00000267615-911188_199246.0415.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93418290chr14:93717998ENST00000354313-911188_199246.0315.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93418290chr14:93717998ENST00000556603-911188_199246.0415.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93418291chr14:93717998ENST00000267615-911188_199246.0415.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93418291chr14:93717998ENST00000354313-911188_199246.0315.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93418291chr14:93717998ENST00000556603-911188_199246.0415.0Nucleotide bindingNote=ATP
TgeneBTBD7chr14:93418290chr14:93717998ENST0000029889604756_8250411.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93418290chr14:93717998ENST0000029889604849_8560411.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93418290chr14:93717998ENST00000334746611756_825584.01133.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93418290chr14:93717998ENST00000334746611849_856584.01133.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93418290chr14:93717998ENST0000055456549756_825233.0782.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93418290chr14:93717998ENST0000055456549849_856233.0782.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93418291chr14:93717998ENST0000029889604756_8250411.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93418291chr14:93717998ENST0000029889604849_8560411.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93418291chr14:93717998ENST00000334746611756_825584.01133.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93418291chr14:93717998ENST00000334746611849_856584.01133.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93418291chr14:93717998ENST0000055456549756_825233.0782.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93418291chr14:93717998ENST0000055456549849_856233.0782.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93542939chr14:93730339ENST0000029889604756_8250411.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93542939chr14:93730339ENST0000029889604849_8560411.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93542939chr14:93730339ENST00000334746211756_825387.33333333333331133.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93542939chr14:93730339ENST00000334746211849_856387.33333333333331133.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93542939chr14:93730339ENST0000055456509756_82536.333333333333336782.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93542939chr14:93730339ENST0000055456509849_85636.333333333333336782.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93542940chr14:93730339ENST0000029889604756_8250411.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93542940chr14:93730339ENST0000029889604849_8560411.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93542940chr14:93730339ENST00000334746211756_825387.33333333333331133.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93542940chr14:93730339ENST00000334746211849_856387.33333333333331133.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93542940chr14:93730339ENST0000055456509756_82536.333333333333336782.0Compositional biasNote=Pro-rich
TgeneBTBD7chr14:93542940chr14:93730339ENST0000055456509849_85636.333333333333336782.0Compositional biasNote=Poly-Ala
TgeneBTBD7chr14:93418290chr14:93717998ENST0000029889604142_2110411.0DomainBTB 1
TgeneBTBD7chr14:93418290chr14:93717998ENST0000029889604247_3410411.0DomainBTB 2
TgeneBTBD7chr14:93418290chr14:93717998ENST0000029889604413_4790411.0DomainNote=BACK
TgeneBTBD7chr14:93418290chr14:93717998ENST0000055456549247_341233.0782.0DomainBTB 2
TgeneBTBD7chr14:93418290chr14:93717998ENST0000055456549413_479233.0782.0DomainNote=BACK
TgeneBTBD7chr14:93418291chr14:93717998ENST0000029889604142_2110411.0DomainBTB 1
TgeneBTBD7chr14:93418291chr14:93717998ENST0000029889604247_3410411.0DomainBTB 2
TgeneBTBD7chr14:93418291chr14:93717998ENST0000029889604413_4790411.0DomainNote=BACK
TgeneBTBD7chr14:93418291chr14:93717998ENST0000055456549247_341233.0782.0DomainBTB 2
TgeneBTBD7chr14:93418291chr14:93717998ENST0000055456549413_479233.0782.0DomainNote=BACK
TgeneBTBD7chr14:93542939chr14:93730339ENST0000029889604142_2110411.0DomainBTB 1
TgeneBTBD7chr14:93542939chr14:93730339ENST0000029889604247_3410411.0DomainBTB 2
TgeneBTBD7chr14:93542939chr14:93730339ENST0000029889604413_4790411.0DomainNote=BACK
TgeneBTBD7chr14:93542939chr14:93730339ENST00000334746211413_479387.33333333333331133.0DomainNote=BACK
TgeneBTBD7chr14:93542939chr14:93730339ENST0000055456509142_21136.333333333333336782.0DomainBTB 1
TgeneBTBD7chr14:93542939chr14:93730339ENST0000055456509247_34136.333333333333336782.0DomainBTB 2
TgeneBTBD7chr14:93542939chr14:93730339ENST0000055456509413_47936.333333333333336782.0DomainNote=BACK
TgeneBTBD7chr14:93542940chr14:93730339ENST0000029889604142_2110411.0DomainBTB 1
TgeneBTBD7chr14:93542940chr14:93730339ENST0000029889604247_3410411.0DomainBTB 2
TgeneBTBD7chr14:93542940chr14:93730339ENST0000029889604413_4790411.0DomainNote=BACK
TgeneBTBD7chr14:93542940chr14:93730339ENST00000334746211413_479387.33333333333331133.0DomainNote=BACK
TgeneBTBD7chr14:93542940chr14:93730339ENST0000055456509142_21136.333333333333336782.0DomainBTB 1
TgeneBTBD7chr14:93542940chr14:93730339ENST0000055456509247_34136.333333333333336782.0DomainBTB 2
TgeneBTBD7chr14:93542940chr14:93730339ENST0000055456509413_47936.333333333333336782.0DomainNote=BACK

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITPK1chr14:93418290chr14:93717998ENST00000267615-911117_325246.0415.0DomainATP-grasp
HgeneITPK1chr14:93418290chr14:93717998ENST00000354313-911117_325246.0315.0DomainATP-grasp
HgeneITPK1chr14:93418290chr14:93717998ENST00000556603-911117_325246.0415.0DomainATP-grasp
HgeneITPK1chr14:93418291chr14:93717998ENST00000267615-911117_325246.0415.0DomainATP-grasp
HgeneITPK1chr14:93418291chr14:93717998ENST00000354313-911117_325246.0315.0DomainATP-grasp
HgeneITPK1chr14:93418291chr14:93717998ENST00000556603-911117_325246.0415.0DomainATP-grasp
HgeneITPK1chr14:93542939chr14:93730339ENST00000267615-311117_32540.0415.0DomainATP-grasp
HgeneITPK1chr14:93542939chr14:93730339ENST00000354313-311117_32540.0315.0DomainATP-grasp
HgeneITPK1chr14:93542939chr14:93730339ENST00000556603-311117_32540.0415.0DomainATP-grasp
HgeneITPK1chr14:93542940chr14:93730339ENST00000267615-311117_32540.0415.0DomainATP-grasp
HgeneITPK1chr14:93542940chr14:93730339ENST00000354313-311117_32540.0315.0DomainATP-grasp
HgeneITPK1chr14:93542940chr14:93730339ENST00000556603-311117_32540.0415.0DomainATP-grasp
HgeneITPK1chr14:93542939chr14:93730339ENST00000267615-311188_19940.0415.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93542939chr14:93730339ENST00000354313-311188_19940.0315.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93542939chr14:93730339ENST00000556603-311188_19940.0415.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93542940chr14:93730339ENST00000267615-311188_19940.0415.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93542940chr14:93730339ENST00000354313-311188_19940.0315.0Nucleotide bindingNote=ATP
HgeneITPK1chr14:93542940chr14:93730339ENST00000556603-311188_19940.0415.0Nucleotide bindingNote=ATP
TgeneBTBD7chr14:93418290chr14:93717998ENST00000334746611142_211584.01133.0DomainBTB 1
TgeneBTBD7chr14:93418290chr14:93717998ENST00000334746611247_341584.01133.0DomainBTB 2
TgeneBTBD7chr14:93418290chr14:93717998ENST00000334746611413_479584.01133.0DomainNote=BACK
TgeneBTBD7chr14:93418290chr14:93717998ENST0000055456549142_211233.0782.0DomainBTB 1
TgeneBTBD7chr14:93418291chr14:93717998ENST00000334746611142_211584.01133.0DomainBTB 1
TgeneBTBD7chr14:93418291chr14:93717998ENST00000334746611247_341584.01133.0DomainBTB 2
TgeneBTBD7chr14:93418291chr14:93717998ENST00000334746611413_479584.01133.0DomainNote=BACK
TgeneBTBD7chr14:93418291chr14:93717998ENST0000055456549142_211233.0782.0DomainBTB 1
TgeneBTBD7chr14:93542939chr14:93730339ENST00000334746211142_211387.33333333333331133.0DomainBTB 1
TgeneBTBD7chr14:93542939chr14:93730339ENST00000334746211247_341387.33333333333331133.0DomainBTB 2
TgeneBTBD7chr14:93542940chr14:93730339ENST00000334746211142_211387.33333333333331133.0DomainBTB 1
TgeneBTBD7chr14:93542940chr14:93730339ENST00000334746211247_341387.33333333333331133.0DomainBTB 2


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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 >>>1552_ITPK1_93542940_BTBD7_93730339_ranked_0.pdbITPK19341829193542940ENST00000393170BTBD7chr1493730339-
MAEREENQEAEFPGLRRAVQEARDGGCAGCEDIIAESISLDTLIAILKWSSHPYGSKWVHRQALHFLCEEFSQVMTSDVFYELSKDHLLT
AIQSDYLQASEQDILKYLIKWGEHQLMKRIADREPNLLSGTAHSVNKRGVKRRDLDMEELREILSSLLPFVRIEHILPINSEVLSDAMKR
GLISTPPSDMLPTTEGGKSNAWLRQKNAGIYVRPRLFSPYVEEAKSVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISHQ
QISSNQSSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLREFGLADAAAELLQNPHKFFPDERFG
DESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVAFHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAPK
AGPPPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLMPDIAVGVSTLSLKDRRLPELAVDTELSQ
SVSEAGPGPPQHLSCIPQRHTHTSRKKHTLEQKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGLK
SAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENASTGPAHVRGRTAVETDLTFGLTPNRPSLSACS
773


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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.
ITPK1_pLDDT.png
all structure
all structure
BTBD7_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
ITPK1
BTBD7


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 ITPK1-BTBD7


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 ITPK1-BTBD7


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