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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: 33429

FusionGeneSummary for SEZ6L_PHF3

check button Fusion gene summary
Fusion gene informationFusion gene name: SEZ6L_PHF3
Fusion gene ID: 33429
HgeneTgene
Gene symbol

SEZ6L

PHF3

Gene ID

23544

23469

Gene nameseizure related 6 homolog likePHD finger protein 3
Synonyms--
Cytomap

22q12.1

6q12

Type of geneprotein-codingprotein-coding
Descriptionseizure 6-like proteinseizure related gene 6-likePHD finger protein 3
Modification date2018032920180519
UniProtAcc

Q9BYH1

Q92576

Ensembl transtripts involved in fusion geneENST00000404234, ENST00000529632, 
ENST00000360929, ENST00000248933, 
ENST00000343706, ENST00000402979, 
ENST00000403121, ENST00000411842, 
ENST00000494013, 
ENST00000262043, 
ENST00000509330, ENST00000393387, 
ENST00000420043, 
Fusion gene scores* DoF score6 X 6 X 2=724 X 4 X 3=48
# samples 126
** MAII scorelog2(12/72*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SEZ6L [Title/Abstract] AND PHF3 [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
ChiTaRS3.1BF934112SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
* 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-3CDSENST00000404234ENST00000262043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000404234ENST00000509330SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000404234ENST00000393387SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000404234ENST00000420043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-3CDSENST00000529632ENST00000262043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000529632ENST00000509330SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000529632ENST00000393387SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000529632ENST00000420043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-3CDSENST00000360929ENST00000262043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000360929ENST00000509330SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000360929ENST00000393387SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000360929ENST00000420043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-3CDSENST00000248933ENST00000262043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000248933ENST00000509330SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000248933ENST00000393387SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000248933ENST00000420043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-3CDSENST00000343706ENST00000262043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000343706ENST00000509330SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000343706ENST00000393387SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000343706ENST00000420043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-3CDSENST00000402979ENST00000262043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000402979ENST00000509330SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000402979ENST00000393387SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000402979ENST00000420043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-3CDSENST00000403121ENST00000262043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000403121ENST00000509330SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000403121ENST00000393387SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000403121ENST00000420043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-3CDSENST00000411842ENST00000262043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000411842ENST00000509330SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000411842ENST00000393387SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000411842ENST00000420043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-3CDSENST00000494013ENST00000262043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000494013ENST00000509330SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000494013ENST00000393387SEZ6Lchr22

26594217

-PHF3chr6

64422573

-
intron-intronENST00000494013ENST00000420043SEZ6Lchr22

26594217

-PHF3chr6

64422573

-

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FusionProtFeatures for SEZ6L_PHF3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEZ6L

Q9BYH1

PHF3

Q92576


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 SEZ6L_PHF3


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 SEZ6L_PHF3


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 SEZ6L_PHF3


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 SEZ6L_PHF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSEZ6LC0005586Bipolar Disorder1PSYGENET
TgenePHF3C0001973Alcoholic Intoxication, Chronic2PSYGENET