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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: 4547

FusionGeneSummary for BTBD9_LASP1

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD9_LASP1
Fusion gene ID: 4547
HgeneTgene
Gene symbol

BTBD9

LASP1

Gene ID

114781

3927

Gene nameBTB domain containing 9LIM and SH3 protein 1
SynonymsdJ322I12.1Lasp-1|MLN50
Cytomap

6p21.2

17q12

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 9BTB (POZ) domain containing 9LIM and SH3 domain protein 1metastatic lymph node gene 50 protein
Modification date2018052320180522
UniProtAcc

Q96Q07

Q14847

Ensembl transtripts involved in fusion geneENST00000314100, ENST00000481247, 
ENST00000419706, ENST00000408958, 
ENST00000403056, 
ENST00000318008, 
ENST00000433206, ENST00000435347, 
Fusion gene scores* DoF score12 X 9 X 7=75613 X 12 X 7=1092
# samples 1516
** MAII scorelog2(15/756*10)=-2.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1092*10)=-2.77082904603249
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BTBD9 [Title/Abstract] AND LASP1 [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
TCGARVPRADTCGA-YL-A8SA-01ABTBD9chr6

38607576

-LASP1chr17

37034339

+
* 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-3CDSENST00000314100ENST00000318008BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-5UTRENST00000314100ENST00000433206BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-5UTRENST00000314100ENST00000435347BTBD9chr6

38607576

-LASP1chr17

37034339

+
5UTR-3CDSENST00000481247ENST00000318008BTBD9chr6

38607576

-LASP1chr17

37034339

+
5UTR-5UTRENST00000481247ENST00000433206BTBD9chr6

38607576

-LASP1chr17

37034339

+
5UTR-5UTRENST00000481247ENST00000435347BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-3CDSENST00000419706ENST00000318008BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-5UTRENST00000419706ENST00000433206BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-5UTRENST00000419706ENST00000435347BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-3CDSENST00000408958ENST00000318008BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-5UTRENST00000408958ENST00000433206BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-5UTRENST00000408958ENST00000435347BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-3CDSENST00000403056ENST00000318008BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-5UTRENST00000403056ENST00000433206BTBD9chr6

38607576

-LASP1chr17

37034339

+
intron-5UTRENST00000403056ENST00000435347BTBD9chr6

38607576

-LASP1chr17

37034339

+

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FusionProtFeatures for BTBD9_LASP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BTBD9

Q96Q07

LASP1

Q14847

Plays an important role in the regulation of dynamicactin-based, cytoskeletal activities. Agonist-dependent changes inLASP1 phosphorylation may also serve to regulate actin-associatedion transport activities, not only in the parietal cell but alsoin certain other F-actin-rich secretory epithelial cell types (Bysimilarity). {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

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 BTBD9_LASP1


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 BTBD9_LASP1


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
BTBD9COPS6, USP25, CUL3, COPS5, DCUN1D1, NEDD8, TIRAP, CBR3, UBXN1, VPS26B, SEPT3, EPN3, PDIA6, SKA1, UBXN7, FAF1, PPP1R21, BSPRY, MSRB3, RAD23B, GLMN, ATP2B2, ATP6V1G1, EXOSC1, GPRC5C, KIAA1143LASP1TRIP13, PLSCR1, FHL3, MDFI, ZYX, TERF1, TINF2, ACD, POT1, ATXN1, FN1, DAZAP2, CD81, GOLGA2, PSMA3, REL, TRIM27, TCF4, FXR2, SPRY2, ARHGEF15, ZC2HC1A, THAP1, SEPT3, LZTS2, RHOXF2, KRTAP4-2, ZBTB9, ZDHHC17, CCDC8, ILK, HAX1, DNAAF2, THAP8, FYTTD1, NFYA, OR10H3, RDH12, SLC25A32, SLC25A44, C11orf65, TAS2R41, AHNAK, ARFGAP1, DDB1, EIF4B, HSPB1, HSPE1, LGALS1, MAP4, NXF1, CRK, STAT3, SH2D2A, CEP170, FBF1, SCLT1, DCTN1, U2AF2, CDH1, ZNF764, SNRNP27, PGK1, EZR, SPTAN1, NCL, UHRF1, NAT10, PDIA5, API5, KRT18, KRT2, G3BP2, AP3M1, NCOR2, CDK12, MYO1C, ACTR3, CLTC, DNMT1, EHMT2, SNAI1, HIST1H3A, TRIM25, TES


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 BTBD9_LASP1


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 BTBD9_LASP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBTBD9C0035258Restless Legs Syndrome1CTD_human
HgeneBTBD9C0036341Schizophrenia1PSYGENET
TgeneLASP1C0004352Autistic Disorder1CTD_human
TgeneLASP1C0036341Schizophrenia1PSYGENET