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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3805

FusionGeneSummary for BAHD1_KNSTRN

check button Fusion gene summary
Fusion gene informationFusion gene name: BAHD1_KNSTRN
Fusion gene ID: 3805
HgeneTgene
Gene symbol

BAHD1

KNSTRN

Gene ID

22893

90417

Gene namebromo adjacent homology domain containing 1kinetochore localized astrin (SPAG5) binding protein
Synonyms-C15orf23|HSD11|SKAP|TRAF4AF1
Cytomap

15q15.1

15q15.1

Type of geneprotein-codingprotein-coding
Descriptionbromo adjacent homology domain-containing 1 proteinBAH domain-containing protein 1small kinetochore-associated proteinTRAF4 associated factor 1kinastrinkinetochore-localized astrin-binding proteinputative TRAF4-associated factor 1small kinetochore associated proteinsmall kinetochore-associated protein, kinetochore-localized astri
Modification date2018052220180519
UniProtAcc

Q8TBE0

Q9Y448

Ensembl transtripts involved in fusion geneENST00000561234, ENST00000416165, 
ENST00000560846, 
ENST00000416151, 
ENST00000249776, ENST00000448395, 
ENST00000608100, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 41
** MAII scorelog2(4/8*10)=2.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: BAHD1 [Title/Abstract] AND KNSTRN [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLIHCTCGA-2Y-A9H0-01ABAHD1chr15

40733467

+KNSTRNchr15

40678563

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000561234ENST00000416151BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
intron-3CDSENST00000561234ENST00000249776BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
intron-3CDSENST00000561234ENST00000448395BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
intron-3CDSENST00000561234ENST00000608100BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
5UTR-3CDSENST00000416165ENST00000416151BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
5UTR-3CDSENST00000416165ENST00000249776BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
5UTR-3CDSENST00000416165ENST00000448395BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
5UTR-3CDSENST00000416165ENST00000608100BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
intron-3CDSENST00000560846ENST00000416151BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
intron-3CDSENST00000560846ENST00000249776BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
intron-3CDSENST00000560846ENST00000448395BAHD1chr15

40733467

+KNSTRNchr15

40678563

+
intron-3CDSENST00000560846ENST00000608100BAHD1chr15

40733467

+KNSTRNchr15

40678563

+

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FusionProtFeatures for BAHD1_KNSTRN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BAHD1

Q8TBE0

KNSTRN

Q9Y448

Heterochromatin protein that acts as a transcriptionrepressor and has the ability to promote the formation of largeheterochromatic domains. May act by recruiting heterochromatinproteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2expression by binding to its CpG-rich P3 promoter and recruitingheterochromatin proteins. At specific stages of Listeriainfection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3.{ECO:0000269|PubMed:19666599, ECO:0000269|PubMed:21252314}. Essential component of the mitotic spindle required forfaithful chromosome segregation and progression into anaphase(PubMed:19667759). Promotes the metaphase-to-anaphase transitionand is required for chromosome alignment, normal timing of sisterchromatid segregation, and maintenance of spindle polearchitecture (PubMed:19667759, PubMed:22110139). The astrin(SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required forkinetochore oscillations and dynamics of microtubule plus-endsduring live cell mitosis, possibly by forming a link betweenspindle microtubule plus-ends and mitotic chromosomes to achievefaithful cell division (PubMed:23035123). May be involved in UV-induced apoptosis via its interaction with PRPF19; however, theseresults 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}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for BAHD1_KNSTRN


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for BAHD1_KNSTRN


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
BAHD1MDFI, KHDRBS3, BEGAIN, KRTAP4-12, TRAF2, DVL2, DVL3, PRKAR1A, TRIM28, HDAC1, HDAC2, CBX3, KDM1A, SUV39H1, AES, GOLGA2, TRAF4, CALCOCO2, LZTS2, KRT40, KRTAP10-7, KRTAP10-1, KRTAP10-3, HIST1H2BAKNSTRNMPP6, MAPK6, CHMP1B, CLU, ENO1, SHMT2, MOV10, NXF1, NUPR1, ZDHHC17, USB1, CCDC101, CEP170, IFT57, C17orf59, CCDC67, PRPF19, HSPA8, HSPA1A, HSPA6, HSPB1, PCM1, SPICE1, CEP44, DCTN1, HSPA5, KIF22, DYNLL1, MAPRE1, SMEK1, SSSCA1, TACC1, CCDC89, SYCE3, IFT74, COPS7B


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for BAHD1_KNSTRN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BAHD1_KNSTRN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKNSTRNC0007137Squamous cell carcinoma1CTD_human