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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: 26081

FusionGeneSummary for PAX6_PAX6

check button Fusion gene summary
Fusion gene informationFusion gene name: PAX6_PAX6
Fusion gene ID: 26081
HgeneTgene
Gene symbol

PAX6

PAX6

Gene ID

5080

5080

Gene namepaired box 6paired box 6
SynonymsAN|AN2|ASGD5|D11S812E|FVH1|MGDA|WAGRAN|AN2|ASGD5|D11S812E|FVH1|MGDA|WAGR
Cytomap

11p13

11p13

Type of geneprotein-codingprotein-coding
Descriptionpaired box protein Pax-6aniridia type II proteinoculorhombinpaired box homeotic gene-6paired box protein Pax-6aniridia type II proteinoculorhombinpaired box homeotic gene-6
Modification date2018051920180519
UniProtAcc

P26367

P26367

Ensembl transtripts involved in fusion geneENST00000419022, ENST00000379132, 
ENST00000379129, ENST00000379107, 
ENST00000241001, ENST00000379115, 
ENST00000379111, ENST00000379123, 
ENST00000533156, 		ENST00000419022, 
ENST00000379132, ENST00000379129, 
ENST00000379107, ENST00000241001, 
ENST00000379115, ENST00000379111, 
ENST00000379123, ENST00000533156, 
Fusion gene scores* DoF score2 X 3 X 1=61 X 2 X 1=2
# samples 32
** MAII scorelog2(3/6*10)=2.32192809488736log2(2/2*10)=3.32192809488736
Context

PubMed: PAX6 [Title/Abstract] AND PAX6 [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
ChiTaRS3.1W21798PAX6chr11

31832870

+PAX6chr11

31832531

-
ChiTaRS3.1EB361003PAX6chr11

31815220

+PAX6chr11

31810938

+
* 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-5UTRENST00000419022ENST00000419022PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000419022ENST00000379132PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000419022ENST00000379129PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000419022ENST00000379107PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000419022ENST00000241001PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000419022ENST00000379115PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000419022ENST00000379111PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000419022ENST00000379123PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000419022ENST00000533156PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379132ENST00000419022PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379132ENST00000379132PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379132ENST00000379129PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379132ENST00000379107PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379132ENST00000241001PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379132ENST00000379115PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379132ENST00000379111PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379132ENST00000379123PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379132ENST00000533156PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379129ENST00000419022PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379129ENST00000379132PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379129ENST00000379129PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379129ENST00000379107PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379129ENST00000241001PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379129ENST00000379115PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379129ENST00000379111PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379129ENST00000379123PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379129ENST00000533156PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379107ENST00000419022PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379107ENST00000379132PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379107ENST00000379129PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379107ENST00000379107PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379107ENST00000241001PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379107ENST00000379115PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379107ENST00000379111PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379107ENST00000379123PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379107ENST00000533156PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000241001ENST00000419022PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000241001ENST00000379132PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000241001ENST00000379129PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000241001ENST00000379107PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000241001ENST00000241001PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000241001ENST00000379115PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000241001ENST00000379111PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000241001ENST00000379123PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000241001ENST00000533156PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379115ENST00000419022PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379115ENST00000379132PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379115ENST00000379129PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379115ENST00000379107PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379115ENST00000241001PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379115ENST00000379115PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379115ENST00000379111PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379115ENST00000379123PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379115ENST00000533156PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379111ENST00000419022PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379111ENST00000379132PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379111ENST00000379129PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379111ENST00000379107PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379111ENST00000241001PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379111ENST00000379115PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379111ENST00000379111PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379111ENST00000379123PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379111ENST00000533156PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379123ENST00000419022PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379123ENST00000379132PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379123ENST00000379129PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379123ENST00000379107PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379123ENST00000241001PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379123ENST00000379115PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379123ENST00000379111PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000379123ENST00000379123PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000379123ENST00000533156PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000533156ENST00000419022PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000533156ENST00000379132PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000533156ENST00000379129PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000533156ENST00000379107PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000533156ENST00000241001PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000533156ENST00000379115PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000533156ENST00000379111PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-5UTRENST00000533156ENST00000379123PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-intronENST00000533156ENST00000533156PAX6chr11

31832870

+PAX6chr11

31832531

-
intron-3UTRENST00000419022ENST00000419022PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000419022ENST00000379132PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000419022ENST00000379129PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000419022ENST00000379107PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000419022ENST00000241001PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000419022ENST00000379115PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000419022ENST00000379111PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000419022ENST00000379123PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000419022ENST00000533156PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379132ENST00000419022PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379132ENST00000379132PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379132ENST00000379129PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379132ENST00000379107PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379132ENST00000241001PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379132ENST00000379115PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379132ENST00000379111PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379132ENST00000379123PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379132ENST00000533156PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379129ENST00000419022PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379129ENST00000379132PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379129ENST00000379129PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379129ENST00000379107PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379129ENST00000241001PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379129ENST00000379115PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379129ENST00000379111PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379129ENST00000379123PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379129ENST00000533156PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379107ENST00000419022PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379107ENST00000379132PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379107ENST00000379129PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379107ENST00000379107PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379107ENST00000241001PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379107ENST00000379115PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379107ENST00000379111PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379107ENST00000379123PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379107ENST00000533156PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000241001ENST00000419022PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000241001ENST00000379132PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000241001ENST00000379129PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000241001ENST00000379107PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000241001ENST00000241001PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000241001ENST00000379115PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000241001ENST00000379111PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000241001ENST00000379123PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000241001ENST00000533156PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379115ENST00000419022PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379115ENST00000379132PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379115ENST00000379129PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379115ENST00000379107PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379115ENST00000241001PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379115ENST00000379115PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379115ENST00000379111PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379115ENST00000379123PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379115ENST00000533156PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379111ENST00000419022PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379111ENST00000379132PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379111ENST00000379129PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379111ENST00000379107PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379111ENST00000241001PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379111ENST00000379115PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379111ENST00000379111PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379111ENST00000379123PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379111ENST00000533156PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379123ENST00000419022PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379123ENST00000379132PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379123ENST00000379129PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000379123ENST00000379107PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379123ENST00000241001PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379123ENST00000379115PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379123ENST00000379111PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379123ENST00000379123PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000379123ENST00000533156PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000533156ENST00000419022PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000533156ENST00000379132PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000533156ENST00000379129PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-3UTRENST00000533156ENST00000379107PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000533156ENST00000241001PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000533156ENST00000379115PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000533156ENST00000379111PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000533156ENST00000379123PAX6chr11

31815220

+PAX6chr11

31810938

+
intron-intronENST00000533156ENST00000533156PAX6chr11

31815220

+PAX6chr11

31810938

+

Top

FusionProtFeatures for PAX6_PAX6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PAX6

P26367

PAX6

P26367

Transcription factor with important functions in thedevelopment of the eye, nose, central nervous system and pancreas.Required for the differentiation of pancreatic islet alpha cells(By similarity). Competes with PAX4 in binding to a common elementin the glucagon, insulin and somatostatin promoters. Regulatesspecification of the ventral neuron subtypes by establishing thecorrect progenitor domains (By similarity). Isoform 5a appears tofunction as a molecular switch that specifies target genes.{ECO:0000250}. Transcription factor with important functions in thedevelopment of the eye, nose, central nervous system and pancreas.Required for the differentiation of pancreatic islet alpha cells(By similarity). Competes with PAX4 in binding to a common elementin the glucagon, insulin and somatostatin promoters. Regulatesspecification of the ventral neuron subtypes by establishing thecorrect progenitor domains (By similarity). Isoform 5a appears tofunction as a molecular switch that specifies target genes.{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 PAX6_PAX6


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 PAX6_PAX6


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 PAX6_PAX6


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 PAX6_PAX6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAX6C0003076Aniridia16CTD_human;HPO;ORPHANET;UNIPROT
HgenePAX6C0344559Irido-corneo-trabecular dysgenesis (disorder)4CTD_human;HPO;ORPHANET;UNIPROT
HgenePAX6C0376634Craniofacial Abnormalities3CTD_human
HgenePAX6C0040427Tooth Abnormalities2CTD_human
HgenePAX6C0004352Autistic Disorder1CTD_human
HgenePAX6C0009363Congenital ocular coloboma (disorder)1CTD_human;ORPHANET;UNIPROT
HgenePAX6C0011853Diabetes Mellitus, Experimental1CTD_human
HgenePAX6C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgenePAX6C0025202melanoma1CTD_human
HgenePAX6C0027626Neoplasm Invasiveness1CTD_human
HgenePAX6C0029132Disorder of the optic nerve1CTD_human
HgenePAX6C0036341Schizophrenia1PSYGENET
HgenePAX6C0038356Stomach Neoplasms1CTD_human
HgenePAX6C0497552Congenital neurologic anomalies1CTD_human
HgenePAX6C1833797Optic Nerve Hypoplasia, Bilateral1CTD_human;ORPHANET;UNIPROT
HgenePAX6C3714756Intellectual Disability1CTD_human;HPO
HgenePAX6C3714873Axenfeld-Rieger Syndrome, Type 11CTD_human
HgenePAX6C3805604FOVEAL HYPOPLASIA 11ORPHANET;UNIPROT
TgenePAX6C0003076Aniridia16CTD_human;HPO;ORPHANET;UNIPROT
TgenePAX6C0344559Irido-corneo-trabecular dysgenesis (disorder)4CTD_human;HPO;ORPHANET;UNIPROT
TgenePAX6C0376634Craniofacial Abnormalities3CTD_human
TgenePAX6C0040427Tooth Abnormalities2CTD_human
TgenePAX6C0004352Autistic Disorder1CTD_human
TgenePAX6C0009363Congenital ocular coloboma (disorder)1CTD_human;ORPHANET;UNIPROT
TgenePAX6C0011853Diabetes Mellitus, Experimental1CTD_human
TgenePAX6C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgenePAX6C0025202melanoma1CTD_human
TgenePAX6C0027626Neoplasm Invasiveness1CTD_human
TgenePAX6C0029132Disorder of the optic nerve1CTD_human
TgenePAX6C0036341Schizophrenia1PSYGENET
TgenePAX6C0038356Stomach Neoplasms1CTD_human
TgenePAX6C0497552Congenital neurologic anomalies1CTD_human
TgenePAX6C1833797Optic Nerve Hypoplasia, Bilateral1CTD_human;ORPHANET;UNIPROT
TgenePAX6C3714756Intellectual Disability1CTD_human;HPO
TgenePAX6C3714873Axenfeld-Rieger Syndrome, Type 11CTD_human
TgenePAX6C3805604FOVEAL HYPOPLASIA 11ORPHANET;UNIPROT