FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 16122

FusionGeneSummary for HESX1_FAT3

check button Fusion gene summary
Fusion gene informationFusion gene name: HESX1_FAT3
Fusion gene ID: 16122
HgeneTgene
Gene symbol

HESX1

FAT3

Gene ID

8820

120114

Gene nameHESX homeobox 1FAT atypical cadherin 3
SynonymsANF|CPHD5|RPXCDHF15|CDHR10|hFat3
Cytomap

3p14.3

11q14.3

Type of geneprotein-codingprotein-coding
Descriptionhomeobox expressed in ES cells 1Rathke pouch homeoboxhAnfhomeobox protein ANFprotocadherin Fat 3FAT tumor suppressor homolog 3cadherin family member 15cadherin-related family member 10
Modification date2018051920180519
UniProtAcc

Q9UBX0

Q8TDW7

Ensembl transtripts involved in fusion geneENST00000295934, ENST00000473921, 
ENST00000541502, ENST00000409404, 
ENST00000298047, ENST00000525166, 
ENST00000533797, ENST00000489716, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 3=48
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HESX1 [Title/Abstract] AND FAT3 [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
ChiTaRS3.1U82811HESX1chr3

57232220

-FAT3chr11

92169129

-
* 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-intronENST00000295934ENST00000541502HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000295934ENST00000409404HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000295934ENST00000298047HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000295934ENST00000525166HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000295934ENST00000533797HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000295934ENST00000489716HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000473921ENST00000541502HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000473921ENST00000409404HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000473921ENST00000298047HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000473921ENST00000525166HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000473921ENST00000533797HESX1chr3

57232220

-FAT3chr11

92169129

-
intron-intronENST00000473921ENST00000489716HESX1chr3

57232220

-FAT3chr11

92169129

-

Top

FusionProtFeatures for HESX1_FAT3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HESX1

Q9UBX0

FAT3

Q8TDW7

Required for the normal development of the forebrain,eyes and other anterior structures such as the olfactory placodesand pituitary gland. Possible transcriptional repressor. Binds tothe palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'.HESX1 and PROP1 bind as heterodimers on this palindromic site,and, in vitro, HESX1 can antagonize PROP1 activation.{ECO:0000250|UniProtKB:Q61658, ECO:0000269|PubMed:26781211}. May play a role in the interactions between neuritesderived from specific subsets of neurons during development.{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


Top

FusionGeneSequence for HESX1_FAT3


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).

Top

FusionGenePPI for HESX1_FAT3


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


Top

RelatedDrugs for HESX1_FAT3


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

Top

RelatedDiseases for HESX1_FAT3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHESX1C0338503Septo-Optic Dysplasia4HPO;ORPHANET;UNIPROT
TgeneFAT3C0279626Squamous cell carcinoma of esophagus1CTD_human