FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 35494

FusionGeneSummary for SP3_AFTPH

check button Fusion gene summary
Fusion gene informationFusion gene name: SP3_AFTPH
Fusion gene ID: 35494
HgeneTgene
Gene symbol

SP3

AFTPH

Gene ID

6670

54812

Gene nameSp3 transcription factoraftiphilin
SynonymsSPR2Nbla10388
Cytomap

2q31.1

2p14

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor Sp3GC-binding transcription factor Sp3specificity protein 3aftiphilinaftiphilin protein
Modification date2018052320180523
UniProtAcc

Q02447

Q6ULP2

Ensembl transtripts involved in fusion geneENST00000455789, ENST00000310015, 
ENST00000418194, ENST00000483084, 
ENST00000238855, ENST00000422803, 
ENST00000238856, ENST00000409933, 
ENST00000409183, ENST00000487769, 
Fusion gene scores* DoF score10 X 5 X 8=4003 X 3 X 1=9
# samples 114
** MAII scorelog2(11/400*10)=-1.86249647625006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SP3 [Title/Abstract] AND AFTPH [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
HgeneSP3

GO:0006355

regulation of transcription, DNA-templated

12560508

HgeneSP3

GO:0045893

positive regulation of transcription, DNA-templated

12771217


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
ChiTaRS3.1AK093926SP3chr2

174819598

-AFTPHchr2

64778574

+
ChiTaRS3.1DB204441SP3chr2

174819598

-AFTPHchr2

64778574

+
* 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-5UTRENST00000455789ENST00000238855SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-5UTRENST00000455789ENST00000422803SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-5UTRENST00000455789ENST00000238856SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-intronENST00000455789ENST00000409933SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-intronENST00000455789ENST00000409183SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-intronENST00000455789ENST00000487769SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-5UTRENST00000310015ENST00000238855SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-5UTRENST00000310015ENST00000422803SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-5UTRENST00000310015ENST00000238856SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-intronENST00000310015ENST00000409933SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-intronENST00000310015ENST00000409183SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-intronENST00000310015ENST00000487769SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-5UTRENST00000418194ENST00000238855SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-5UTRENST00000418194ENST00000422803SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-5UTRENST00000418194ENST00000238856SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-intronENST00000418194ENST00000409933SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-intronENST00000418194ENST00000409183SP3chr2

174819598

-AFTPHchr2

64778574

+
5CDS-intronENST00000418194ENST00000487769SP3chr2

174819598

-AFTPHchr2

64778574

+
intron-5UTRENST00000483084ENST00000238855SP3chr2

174819598

-AFTPHchr2

64778574

+
intron-5UTRENST00000483084ENST00000422803SP3chr2

174819598

-AFTPHchr2

64778574

+
intron-5UTRENST00000483084ENST00000238856SP3chr2

174819598

-AFTPHchr2

64778574

+
intron-intronENST00000483084ENST00000409933SP3chr2

174819598

-AFTPHchr2

64778574

+
intron-intronENST00000483084ENST00000409183SP3chr2

174819598

-AFTPHchr2

64778574

+
intron-intronENST00000483084ENST00000487769SP3chr2

174819598

-AFTPHchr2

64778574

+

Top

FusionProtFeatures for SP3_AFTPH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SP3

Q02447

AFTPH

Q6ULP2

Transcriptional factor that can act as an activator orrepressor depending on isoform and/or post-translationalmodifications. Binds to GT and GC boxes promoter elements.Competes with SP1 for the GC-box promoters. Weak activator oftranscription but can activate a number of genes involved indifferent processes such as cell-cycle regulation, hormone-induction and house-keeping. {ECO:0000269|PubMed:10391891,ECO:0000269|PubMed:11812829, ECO:0000269|PubMed:12419227,ECO:0000269|PubMed:12837748, ECO:0000269|PubMed:15247228,ECO:0000269|PubMed:15494207, ECO:0000269|PubMed:15554904,ECO:0000269|PubMed:16781829, ECO:0000269|PubMed:17548428,ECO:0000269|PubMed:18187045, ECO:0000269|PubMed:18617891,ECO:0000269|PubMed:9278495}. May play a role in membrane trafficking.

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


Top

FusionGeneSequence for SP3_AFTPH


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).

Top

FusionGenePPI for SP3_AFTPH


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
SP3STK19, HDAC2, RBBP4, HDAC1, PIAS1, SP4, E2F1, GABPA, SFPQ, DNMT1, SP1, CREBBP, EP300, CEBPB, ESR1, NKX3-1, TP53, CRX, ZBTB7B, MECP2, RELA, YY1, TFAP4, HLTF, GCH1, PPP1CC, PPP2R4, SGCZ, ADAMTS12, ITLN1, B4GALT4, TMEM25, PTPRK, TSHB, DEAF1, SUB1AFTPHUBE3A, LIG4, STAT5B, VAPB, NTRK1, XPO1, AP1S2, VAPA, AP1M2


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


Top

RelatedDrugs for SP3_AFTPH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for SP3_AFTPH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSP3C0033975Psychotic Disorders1PSYGENET
HgeneSP3C0036341Schizophrenia1PSYGENET
HgeneSP3C0349204Nonorganic psychosis1PSYGENET