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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: 34726

FusionGeneSummary for SLX4_AUTS2

check button Fusion gene summary
Fusion gene informationFusion gene name: SLX4_AUTS2
Fusion gene ID: 34726
HgeneTgene
Gene symbol

SLX4

AUTS2

Gene ID

84464

26053

Gene nameSLX4 structure-specific endonuclease subunitAUTS2, activator of transcription and developmental regulator
SynonymsBTBD12|FANCP|MUS312FBRSL2|MRD26
Cytomap

16p13.3

7q11.22

Type of geneprotein-codingprotein-coding
Descriptionstructure-specific endonuclease subunit SLX4BTB/POZ domain-containing protein 12autism susceptibility gene 2 proteinautism susceptibility candidate 2autism-related protein 1
Modification date2018052320180519
UniProtAcc

Q8IY92

Q8WXX7

Ensembl transtripts involved in fusion geneENST00000294008, ENST00000406775, 
ENST00000342771, ENST00000403018, 
ENST00000489774, 
Fusion gene scores* DoF score3 X 3 X 3=2718 X 16 X 6=1728
# samples 320
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(20/1728*10)=-3.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLX4 [Title/Abstract] AND AUTS2 [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
TgeneAUTS2

GO:0045944

positive regulation of transcription by RNA polymerase II

25519132

TgeneAUTS2

GO:0051571

positive regulation of histone H3-K4 methylation

25519132

TgeneAUTS2

GO:2000620

positive regulation of histone H4-K16 acetylation

25519132


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
ChiTaRS3.1DB315791SLX4chr16

3631269

+AUTS2chr7

70200951

+
* 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-intronENST00000294008ENST00000406775SLX4chr16

3631269

+AUTS2chr7

70200951

+
intron-intronENST00000294008ENST00000342771SLX4chr16

3631269

+AUTS2chr7

70200951

+
intron-intronENST00000294008ENST00000403018SLX4chr16

3631269

+AUTS2chr7

70200951

+
intron-intronENST00000294008ENST00000489774SLX4chr16

3631269

+AUTS2chr7

70200951

+

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FusionProtFeatures for SLX4_AUTS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLX4

Q8IY92

AUTS2

Q8WXX7

Regulatory subunit that interacts with and increases theactivity of different structure-specific endonucleases. Hasseveral distinct roles in protecting genome stability by resolvingdiverse forms of deleterious DNA structures originating fromreplication and recombination intermediates and from DNA damage.Component of the SLX1-SLX4 structure-specific endonuclease thatresolves DNA secondary structures generated during DNA repair andrecombination. Has endonuclease activity towards branched DNAsubstrates, introducing single-strand cuts in duplex DNA close tojunctions with ss-DNA. Has a preference for 5'-flap structures,and promotes symmetrical cleavage of static and migrating Hollidayjunctions (HJs). Resolves HJs by generating two pairs ofligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage ofbubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3'-flap andreplication fork-like structures. SLX4 is required for recoveryfrom alkylation-induced DNA damage and is involved in theresolution of DNA double-strand breaks.{ECO:0000269|PubMed:19595721, ECO:0000269|PubMed:19595722,ECO:0000269|PubMed:19596235, ECO:0000269|PubMed:19596236}. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:25519132). ThePRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP andAUTS2 has decreased histone H2A ubiquitination activity, due tothe phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As aconsequence, the complex mediates transcriptional activation(PubMed:25519132). In the cytoplasm, plays a role in axon anddendrite elongation and in neuronal migration during embryonicbrain development. Promotes reorganization of the actincytoskeleton, lamellipodia formation and neurite elongation viaits interaction with RAC guanine nucleotide exchange factors,which then leads to the activation of RAC1 (By similarity).{ECO:0000250|UniProtKB:A0A087WPF7, ECO:0000269|PubMed:25519132}.

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 SLX4_AUTS2


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 SLX4_AUTS2


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 SLX4_AUTS2


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 SLX4_AUTS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLX4C0015625Fanconi Anemia3CTD_human;ORPHANET
TgeneAUTS2C0036341Schizophrenia2PSYGENET
TgeneAUTS2C0014544Epilepsy1CTD_human