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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:KNSTRN-HP1BP3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KNSTRN-HP1BP3
FusionPDB ID: 43338
FusionGDB2.0 ID: 43338
HgeneTgene
Gene symbol

KNSTRN

HP1BP3

Gene ID

90417

50809

Gene namekinetochore localized astrin (SPAG5) binding proteinheterochromatin protein 1 binding protein 3
SynonymsC15orf23|HSD11|SKAP|TRAF4AF1HP1-BP74|HP1BP74
Cytomap

15q15.1

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionsmall kinetochore-associated proteinTRAF4 associated factor 1kinastrinkinetochore-localized astrin-binding proteinputative TRAF4-associated factor 1small kinetochore associated proteinsmall kinetochore-associated protein, kinetochore-localized astriheterochromatin protein 1-binding protein 3
Modification date2020031320200313
UniProtAcc

Q9Y448

Q5SSJ5

Ensembl transtripts involved in fusion geneENST idsENST00000249776, ENST00000416151, 
ENST00000448395, ENST00000608100, 
ENST00000375003, ENST00000375000, 
ENST00000487117, ENST00000312239, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=822 X 14 X 10=3080
# samples 224
** MAII scorelog2(2/8*10)=1.32192809488736log2(24/3080*10)=-3.68182403997374
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: KNSTRN [Title/Abstract] AND HP1BP3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KNSTRN(40679407)-HP1BP3(21100103), # samples:1
Anticipated loss of major functional domain due to fusion event.KNSTRN-HP1BP3 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.
KNSTRN-HP1BP3 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.
KNSTRN-HP1BP3 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.
KNSTRN-HP1BP3 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
TgeneHP1BP3

GO:0071456

cellular response to hypoxia

25100860


check buttonFusion gene breakpoints across KNSTRN (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 HP1BP3 (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
ChimerDB4STADTCGA-EQ-8122-01AKNSTRNchr15

40679407

+HP1BP3chr1

21100103

-


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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)
ENST00000416151KNSTRNchr1540679407+ENST00000312239HP1BP3chr121100103-40486001151911598
ENST00000249776KNSTRNchr1540679407+ENST00000312239HP1BP3chr121100103-40486001151911598
ENST00000448395KNSTRNchr1540679407+ENST00000312239HP1BP3chr121100103-393348501796598
ENST00000608100KNSTRNchr1540679407+ENST00000312239HP1BP3chr121100103-38283801291691520

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
ENST00000416151ENST00000312239KNSTRNchr1540679407+HP1BP3chr121100103-0.0004336050.9995664
ENST00000249776ENST00000312239KNSTRNchr1540679407+HP1BP3chr121100103-0.0004336050.9995664
ENST00000448395ENST00000312239KNSTRNchr1540679407+HP1BP3chr121100103-0.0003748590.9996251
ENST00000608100ENST00000312239KNSTRNchr1540679407+HP1BP3chr121100103-0.0001658420.9998342

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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

>43338_43338_1_KNSTRN-HP1BP3_KNSTRN_chr15_40679407_ENST00000249776_HP1BP3_chr1_21100103_ENST00000312239_length(amino acids)=598AA_BP=162
MAAPEAPPLDRVFRTTWLSTECDSHPLPPSYRKFLFETQAADLAGGTTVAAGNLLNESEKDCGQDRRAPGVQPCRLVTMTSVVKTVYSLQ
PPSALSGGQPADTQTRATSKSLLPVRSKEVDVSKQLHSGGPENDVTKITKLRRENGQMKATDTATRRNVRKGEKDQSKEKEKKVKKTIPS
WATLSASQLARAQKQTPMASSPRPKMDAILTEAIKACFQKSGASVVAIRKYIIHKYPSLELERRGYLLKQALKRELNRGVIKQVKGKGAS
GSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEPKEASYSLIRKYVSQYYPKLRVDIRPQLLKNALQRAVERGQLE
QITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTALKKYVLENHPGTNSNYQMHLLKKTLQKCEKNGWMEQISGKGF
SGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEEPPPKRRLQKKTPAKSPGKAASVKQRGSKPAPKVSAAQRGKARPLP

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

>43338_43338_2_KNSTRN-HP1BP3_KNSTRN_chr15_40679407_ENST00000416151_HP1BP3_chr1_21100103_ENST00000312239_length(amino acids)=598AA_BP=162
MAAPEAPPLDRVFRTTWLSTECDSHPLPPSYRKFLFETQAADLAGGTTVAAGNLLNESEKDCGQDRRAPGVQPCRLVTMTSVVKTVYSLQ
PPSALSGGQPADTQTRATSKSLLPVRSKEVDVSKQLHSGGPENDVTKITKLRRENGQMKATDTATRRNVRKGEKDQSKEKEKKVKKTIPS
WATLSASQLARAQKQTPMASSPRPKMDAILTEAIKACFQKSGASVVAIRKYIIHKYPSLELERRGYLLKQALKRELNRGVIKQVKGKGAS
GSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEPKEASYSLIRKYVSQYYPKLRVDIRPQLLKNALQRAVERGQLE
QITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTALKKYVLENHPGTNSNYQMHLLKKTLQKCEKNGWMEQISGKGF
SGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEEPPPKRRLQKKTPAKSPGKAASVKQRGSKPAPKVSAAQRGKARPLP

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

>43338_43338_3_KNSTRN-HP1BP3_KNSTRN_chr15_40679407_ENST00000448395_HP1BP3_chr1_21100103_ENST00000312239_length(amino acids)=598AA_BP=162
MAAPEAPPLDRVFRTTWLSTECDSHPLPPSYRKFLFETQAADLAGGTTVAAGNLLNESEKDCGQDRRAPGVQPCRLVTMTSVVKTVYSLQ
PPSALSGGQPADTQTRATSKSLLPVRSKEVDVSKQLHSGGPENDVTKITKLRRENGQMKATDTATRRNVRKGEKDQSKEKEKKVKKTIPS
WATLSASQLARAQKQTPMASSPRPKMDAILTEAIKACFQKSGASVVAIRKYIIHKYPSLELERRGYLLKQALKRELNRGVIKQVKGKGAS
GSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEPKEASYSLIRKYVSQYYPKLRVDIRPQLLKNALQRAVERGQLE
QITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTALKKYVLENHPGTNSNYQMHLLKKTLQKCEKNGWMEQISGKGF
SGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEEPPPKRRLQKKTPAKSPGKAASVKQRGSKPAPKVSAAQRGKARPLP

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

>43338_43338_4_KNSTRN-HP1BP3_KNSTRN_chr15_40679407_ENST00000608100_HP1BP3_chr1_21100103_ENST00000312239_length(amino acids)=520AA_BP=84
MTSVVKTVYSLQPPSALSGGQPADTQTRATSKSLLPVRSKEVDVSKQLHSGGPENDVTKITKLRRENGQMKATDTATRRNVRKGEKDQSK
EKEKKVKKTIPSWATLSASQLARAQKQTPMASSPRPKMDAILTEAIKACFQKSGASVVAIRKYIIHKYPSLELERRGYLLKQALKRELNR
GVIKQVKGKGASGSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEPKEASYSLIRKYVSQYYPKLRVDIRPQLLKN
ALQRAVERGQLEQITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTALKKYVLENHPGTNSNYQMHLLKKTLQKCEK
NGWMEQISGKGFSGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEEPPPKRRLQKKTPAKSPGKAASVKQRGSKPAPKV

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

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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/chr15:40679407/chr1:21100103)
- 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
KNSTRN

Q9Y448

HP1BP3

Q5SSJ5

FUNCTION: Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:19667759, PubMed:22110139). The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division (PubMed:23035123). May be involved in UV-induced apoptosis via its interaction with PRPF19; however, these results need additional evidences (PubMed:24718257). {ECO:0000269|PubMed:19667759, ECO:0000269|PubMed:21402792, ECO:0000269|PubMed:22110139, ECO:0000269|PubMed:23035123, ECO:0000305|PubMed:24718257}.FUNCTION: Component of heterochromatin that maintains heterochromatin integrity during G1/S progression and regulates the duration of G1 phase to critically influence cell proliferative capacity (PubMed:24830416). Mediates chromatin condensation during hypoxia, leading to increased tumor cell viability, radio-resistance, chemo-resistance and self-renewal(PubMed:25100860). {ECO:0000269|PubMed:24830416, ECO:0000269|PubMed:25100860}.

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
TgeneHP1BP3chr15:40679407chr1:21100103ENST00000312239313454_553116.66666666666667554.0Compositional biasNote=Lys-rich
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500005454_5530134.0Compositional biasNote=Lys-rich
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500309454_5530402.0Compositional biasNote=Lys-rich
TgeneHP1BP3chr15:40679407chr1:21100103ENST00000312239313157_232116.66666666666667554.0DomainH15 1
TgeneHP1BP3chr15:40679407chr1:21100103ENST00000312239313255_330116.66666666666667554.0DomainH15 2
TgeneHP1BP3chr15:40679407chr1:21100103ENST00000312239313337_413116.66666666666667554.0DomainH15 3
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500005157_2320134.0DomainH15 1
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500005255_3300134.0DomainH15 2
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500005337_4130134.0DomainH15 3
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500309157_2320402.0DomainH15 1
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500309255_3300402.0DomainH15 2
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500309337_4130402.0DomainH15 3
TgeneHP1BP3chr15:40679407chr1:21100103ENST00000312239313255_259116.66666666666667554.0MotifPxVxL motif
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500005255_2590134.0MotifPxVxL motif
TgeneHP1BP3chr15:40679407chr1:21100103ENST0000037500309255_2590402.0MotifPxVxL motif

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKNSTRNchr15:40679407chr1:21100103ENST00000249776+49166_216161.66666666666666317.0Coiled coilOntology_term=ECO:0000255
HgeneKNSTRNchr15:40679407chr1:21100103ENST00000249776+49248_316161.66666666666666317.0Coiled coilOntology_term=ECO:0000255
HgeneKNSTRNchr15:40679407chr1:21100103ENST00000416151+49166_216161.66666666666666287.0Coiled coilOntology_term=ECO:0000255
HgeneKNSTRNchr15:40679407chr1:21100103ENST00000416151+49248_316161.66666666666666287.0Coiled coilOntology_term=ECO:0000255
HgeneKNSTRNchr15:40679407chr1:21100103ENST00000448395+48166_216161.66666666666666407.0Coiled coilOntology_term=ECO:0000255
HgeneKNSTRNchr15:40679407chr1:21100103ENST00000448395+48248_316161.66666666666666407.0Coiled coilOntology_term=ECO:0000255


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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
KNSTRN
HP1BP3


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
HgeneKNSTRNchr15:40679407chr1:21100103ENST00000249776+49159_316161.66666666666666317.0SPAG5
HgeneKNSTRNchr15:40679407chr1:21100103ENST00000416151+49159_316161.66666666666666287.0SPAG5
HgeneKNSTRNchr15:40679407chr1:21100103ENST00000448395+48159_316161.66666666666666407.0SPAG5


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Related Drugs to KNSTRN-HP1BP3


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 KNSTRN-HP1BP3


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