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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: 32539

FusionGeneSummary for SACS_PHF3

check button Fusion gene summary
Fusion gene informationFusion gene name: SACS_PHF3
Fusion gene ID: 32539
HgeneTgene
Gene symbol

SACS

PHF3

Gene ID

26278

23469

Gene namesacsin molecular chaperonePHD finger protein 3
SynonymsARSACS|DNAJC29|PPP1R138|SPAX6-
Cytomap

13q12.12

6q12

Type of geneprotein-codingprotein-coding
DescriptionsacsindnaJ homolog subfamily C member 29protein phosphatase 1, regulatory subunit 138spastic ataxia of Charlevoix-Saguenay (sacsin)PHD finger protein 3
Modification date2018051920180519
UniProtAcc

Q9NZJ4

Q92576

Ensembl transtripts involved in fusion geneENST00000382298, ENST00000402364, 
ENST00000382292, ENST00000476776, 
ENST00000262043, ENST00000509330, 
ENST00000393387, ENST00000420043, 
Fusion gene scores* DoF score3 X 2 X 3=184 X 4 X 3=48
# samples 36
** MAII scorelog2(3/18*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: SACS [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
TCGARVHNSCTCGA-CV-7248-01ASACSchr13

23932474

-PHF3chr6

64487959

+
* 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
5CDS-intronENST00000382298ENST00000262043SACSchr13

23932474

-PHF3chr6

64487959

+
5CDS-intronENST00000382298ENST00000509330SACSchr13

23932474

-PHF3chr6

64487959

+
5CDS-intronENST00000382298ENST00000393387SACSchr13

23932474

-PHF3chr6

64487959

+
5CDS-3UTRENST00000382298ENST00000420043SACSchr13

23932474

-PHF3chr6

64487959

+
5UTR-intronENST00000402364ENST00000262043SACSchr13

23932474

-PHF3chr6

64487959

+
5UTR-intronENST00000402364ENST00000509330SACSchr13

23932474

-PHF3chr6

64487959

+
5UTR-intronENST00000402364ENST00000393387SACSchr13

23932474

-PHF3chr6

64487959

+
5UTR-3UTRENST00000402364ENST00000420043SACSchr13

23932474

-PHF3chr6

64487959

+
5CDS-intronENST00000382292ENST00000262043SACSchr13

23932474

-PHF3chr6

64487959

+
5CDS-intronENST00000382292ENST00000509330SACSchr13

23932474

-PHF3chr6

64487959

+
5CDS-intronENST00000382292ENST00000393387SACSchr13

23932474

-PHF3chr6

64487959

+
5CDS-3UTRENST00000382292ENST00000420043SACSchr13

23932474

-PHF3chr6

64487959

+
intron-intronENST00000476776ENST00000262043SACSchr13

23932474

-PHF3chr6

64487959

+
intron-intronENST00000476776ENST00000509330SACSchr13

23932474

-PHF3chr6

64487959

+
intron-intronENST00000476776ENST00000393387SACSchr13

23932474

-PHF3chr6

64487959

+
intron-3UTRENST00000476776ENST00000420043SACSchr13

23932474

-PHF3chr6

64487959

+

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FusionProtFeatures for SACS_PHF3


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

Q9NZJ4

PHF3

Q92576

Co-chaperone which acts as a regulator of the Hsp70chaperone machinery and may be involved in the processing of otherataxia-linked proteins. {ECO:0000269|PubMed:19208651}.

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 SACS_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 SACS_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
SACSPSMA3, TSC22D4, ZNRD1, ACTN4, PICK1, ALB, TP63, UBE3A, CCDC8, ENPP6, TP53, PLK1, TRIM29, ATOH1, MOCS3, TRIM25, FBXL13PHF3SIRT7, MAPK3, HECW2, BMI1, CLK1, ORC1, SUPT5H, YWHAZ, USP37, TMA16, ID2, TRIM25


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 SACS_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 SACS_PHF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSACSC1849140SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE11CTD_human;ORPHANET;UNIPROT
HgeneSACSC0751778Myoclonic Epilepsies, Progressive1CTD_human
TgenePHF3C0001973Alcoholic Intoxication, Chronic2PSYGENET