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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: 16710

FusionGeneSummary for HOXB8_DIAPH1

check button Fusion gene summary
Fusion gene informationFusion gene name: HOXB8_DIAPH1
Fusion gene ID: 16710
HgeneTgene
Gene symbol

HOXB8

DIAPH1

Gene ID

3218

1729

Gene namehomeobox B8diaphanous related formin 1
SynonymsHOX2|HOX2D|Hox-2.4DFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1
Cytomap

17q21.32

5q31.3

Type of geneprotein-codingprotein-coding
Descriptionhomeobox protein Hox-B8homeo box 2Dhomeo box B8homeobox protein Hox-2.4homeobox protein Hox-2Dprotein diaphanous homolog 1
Modification date2018051920180527
UniProtAcc

P17481

O60610

Ensembl transtripts involved in fusion geneENST00000239144, ENST00000576562, 
ENST00000389054, ENST00000520569, 
ENST00000253811, ENST00000398566, 
ENST00000398562, ENST00000398557, 
ENST00000389057, ENST00000518047, 
ENST00000494967, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 5 X 3=90
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HOXB8 [Title/Abstract] AND DIAPH1 [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
ChiTaRS3.1BX951816HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
* 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-intronENST00000239144ENST00000389054HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000239144ENST00000520569HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000239144ENST00000253811HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000239144ENST00000398566HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000239144ENST00000398562HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000239144ENST00000398557HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000239144ENST00000389057HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000239144ENST00000518047HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000239144ENST00000494967HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000576562ENST00000389054HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000576562ENST00000520569HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000576562ENST00000253811HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000576562ENST00000398566HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000576562ENST00000398562HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000576562ENST00000398557HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000576562ENST00000389057HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000576562ENST00000518047HOXB8chr17

46689848

-DIAPH1chr5

140910871

-
intron-intronENST00000576562ENST00000494967HOXB8chr17

46689848

-DIAPH1chr5

140910871

-

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FusionProtFeatures for HOXB8_DIAPH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HOXB8

P17481

DIAPH1

O60610

Sequence-specific transcription factor which is part ofa developmental regulatory system that provides cells withspecific positional identities on the anterior-posterior axis. Acts in a Rho-dependent manner to recruit PFY1 to themembrane. Required for the assembly of F-actin structures, such asactin cables and stress fibers. Nucleates actin filaments. Bindsto the barbed end of the actin filament and slows down actinpolymerization and depolymerization. Required for cytokinesis, andtranscriptional activation of the serum response factor. DFRproteins couple Rho and Src tyrosine kinase during signaling andthe regulation of actin dynamics. Functions as a scaffold proteinfor MAPRE1 and APC to stabilize microtubules and promote cellmigration (By similarity). Has neurite outgrowth promotingactivity (By similarity). In hear cells, it may play a role in theregulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Itcontrols the localization of APC and CLASP2 to the cell membrane,via the regulation of GSK3B activity. In turn, membrane-bound APCallows the localization of the MACF1 to the cell membrane, whichis required for microtubule capture and stabilization. Plays arole in the regulation of cell morphology and cytoskeletalorganization. Required in the control of cell shape(PubMed:20937854, PubMed:21834987). Plays a role in braindevelopment (PubMed:24781755). {ECO:0000250|UniProtKB:O08808,ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:21834987,ECO:0000269|PubMed:24781755, ECO:0000269|PubMed:26912466}.

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 HOXB8_DIAPH1


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 HOXB8_DIAPH1


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


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 HOXB8_DIAPH1


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 HOXB8_DIAPH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHOXB8C0028768Obsessive-Compulsive Disorder1CTD_human
HgeneHOXB8C0040953Trichotillomania1CTD_human