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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: 3635

FusionGeneSummary for AUTS2_TPPP3

check button Fusion gene summary
Fusion gene informationFusion gene name: AUTS2_TPPP3
Fusion gene ID: 3635
HgeneTgene
Gene symbol

AUTS2

TPPP3

Gene ID

26053

51673

Gene nameAUTS2, activator of transcription and developmental regulatortubulin polymerization promoting protein family member 3
SynonymsFBRSL2|MRD26CGI-38|TPPP/p20|p20|p25gamma
Cytomap

7q11.22

16q22.1

Type of geneprotein-codingprotein-coding
Descriptionautism susceptibility gene 2 proteinautism susceptibility candidate 2autism-related protein 1tubulin polymerization-promoting protein family member 3brain specific protein
Modification date2018051920180523
UniProtAcc

Q8WXX7

Q9BW30

Ensembl transtripts involved in fusion geneENST00000406775, ENST00000342771, 
ENST00000403018, ENST00000489774, 
ENST00000393957, ENST00000564104, 
ENST00000290942, ENST00000562206, 
Fusion gene scores* DoF score19 X 15 X 7=19951 X 1 X 1=1
# samples 191
** MAII scorelog2(19/1995*10)=-3.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: AUTS2 [Title/Abstract] AND TPPP3 [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
HgeneAUTS2

GO:0045944

positive regulation of transcription by RNA polymerase II

25519132

HgeneAUTS2

GO:0051571

positive regulation of histone H3-K4 methylation

25519132

HgeneAUTS2

GO:2000620

positive regulation of histone H4-K16 acetylation

25519132

TgeneTPPP3

GO:0001578

microtubule bundle formation

17105200


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
ChiTaRS3.1BF995986AUTS2chr7

69197004

-TPPP3chr16

67425017

-
* 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-5UTRENST00000406775ENST00000393957AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000406775ENST00000564104AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000406775ENST00000290942AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000406775ENST00000562206AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000342771ENST00000393957AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000342771ENST00000564104AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000342771ENST00000290942AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000342771ENST00000562206AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000403018ENST00000393957AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000403018ENST00000564104AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000403018ENST00000290942AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000403018ENST00000562206AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000489774ENST00000393957AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000489774ENST00000564104AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000489774ENST00000290942AUTS2chr7

69197004

-TPPP3chr16

67425017

-
intron-5UTRENST00000489774ENST00000562206AUTS2chr7

69197004

-TPPP3chr16

67425017

-

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FusionProtFeatures for AUTS2_TPPP3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AUTS2

Q8WXX7

TPPP3

Q9BW30

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}. Binds tubulin and has microtubule bundling activity. Mayplay a role in cell proliferation and mitosis.{ECO:0000269|PubMed:17105200, ECO:0000269|PubMed:19633818}.

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 AUTS2_TPPP3


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 AUTS2_TPPP3


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 AUTS2_TPPP3


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 AUTS2_TPPP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAUTS2C0036341Schizophrenia2PSYGENET
HgeneAUTS2C0014544Epilepsy1CTD_human