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: 1028

FusionGeneSummary for AFF4_SPATA21

check button Fusion gene summary
Fusion gene informationFusion gene name: AFF4_SPATA21
Fusion gene ID: 1028
HgeneTgene
Gene symbol

AFF4

SPATA21

Gene ID

27125

374955

Gene nameAF4/FMR2 family member 4spermatogenesis associated 21
SynonymsAF5Q31|CHOPS|MCEFspergen-2|spergen2
Cytomap

5q31.1

1p36.13

Type of geneprotein-codingprotein-coding
DescriptionAF4/FMR2 family member 4ALL1-fused gene from chromosome 5q31 proteinmajor CDK9 elongation factor-associated proteinspermatogenesis-associated protein 21
Modification date2018052320180519
UniProtAcc

Q9UHB7

Q7Z572

Ensembl transtripts involved in fusion geneENST00000265343, ENST00000378595, 
ENST00000491831, 
ENST00000466212, 
ENST00000335496, ENST00000540400, 
ENST00000375577, 
Fusion gene scores* DoF score5 X 4 X 3=602 X 3 X 3=18
# samples 53
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AFF4 [Title/Abstract] AND SPATA21 [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
TCGARVESCATCGA-LN-A49M-01AAFF4chr5

132298951

-SPATA21chr1

16757917

-
* 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
5UTR-5UTRENST00000265343ENST00000466212AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-5UTRENST00000265343ENST00000335496AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-intronENST00000265343ENST00000540400AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-5UTRENST00000265343ENST00000375577AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-5UTRENST00000378595ENST00000466212AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-5UTRENST00000378595ENST00000335496AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-intronENST00000378595ENST00000540400AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-5UTRENST00000378595ENST00000375577AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-5UTRENST00000491831ENST00000466212AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-5UTRENST00000491831ENST00000335496AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-intronENST00000491831ENST00000540400AFF4chr5

132298951

-SPATA21chr1

16757917

-
5UTR-5UTRENST00000491831ENST00000375577AFF4chr5

132298951

-SPATA21chr1

16757917

-

Top

FusionProtFeatures for AFF4_SPATA21


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AFF4

Q9UHB7

SPATA21

Q7Z572

Key component of the super elongation complex (SEC), acomplex required to increase the catalytic rate of RNA polymeraseII transcription by suppressing transient pausing by thepolymerase at multiple sites along the DNA. In the SEC complex,AFF4 acts as a central scaffold that recruits other factorsthrough direct interactions with ELL proteins (ELL, ELL2 or ELL3)and the P-TEFb complex. In case of infection by HIV-1 virus, theSEC complex is recruited by the viral Tat protein to stimulateviral gene expression. {ECO:0000269|PubMed:20159561,ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:23251033}. Involved in the differentiation of haploid spermatids.{ECO:0000250}.

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 AFF4_SPATA21


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 AFF4_SPATA21


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
AFF4TRAF2, SIAH1, CDK9, CCNT1, MLLT3, MLLT1, AFF1, KMT2A, ELL2, SPP1, GRK5, MED26, MED19, EAF1, ELL, EAF2, CCNT2, CDK15, HECW2, AP2B1, GOLGA2, MTUS2, FAM9A, HEXIM1, ELL3, EDA, DENND2D, RXRB, CTR9, CNOT1, PIP4K2A, CAMKV, MDK, PES1, ARRB2, RSBN1, EPB41L5, PBX2, TRIM25SPATA21CAND1, 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


Top

RelatedDrugs for AFF4_SPATA21


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 AFF4_SPATA21


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAFF4C0005941Bone Diseases, Developmental1CTD_human
HgeneAFF4C0009241Cognition Disorders1CTD_human
HgeneAFF4C0018273Growth Disorders1CTD_human
HgeneAFF4C0018798Congenital Heart Defects1CTD_human
HgeneAFF4C0024115Lung diseases1CTD_human
HgeneAFF4C0028754Obesity1CTD_human;HPO
HgeneAFF4C0282631Facies1CTD_human
HgeneAFF4C4085597CHOPS SYNDROME1ORPHANET;UNIPROT
TgeneSPATA21C0023903Liver neoplasms1CTD_human
TgeneSPATA21C0032460Polycystic Ovary Syndrome1CTD_human