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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: 10853

FusionGeneSummary for EAF1_SPATA16

check button Fusion gene summary
Fusion gene informationFusion gene name: EAF1_SPATA16
Fusion gene ID: 10853
HgeneTgene
Gene symbol

EAF1

SPATA16

Gene ID

85403

83893

Gene nameELL associated factor 1spermatogenesis associated 16
Synonyms-NYD-SP12|SPGF6
Cytomap

3p25.1

3q26.31

Type of geneprotein-codingprotein-coding
DescriptionELL-associated factor 1ELL (eleven nineteen lysine-rich leukemia gene)-associated factor 1spermatogenesis-associated protein 16testicular tissue protein Li 185testis development protein NYD-SP12testis-specific Golgi protein
Modification date2018051920180522
UniProtAcc

Q96JC9

Q9BXB7

Ensembl transtripts involved in fusion geneENST00000396842, ENST00000432764, 
ENST00000351008, 
Fusion gene scores* DoF score3 X 1 X 3=98 X 6 X 6=288
# samples 38
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EAF1 [Title/Abstract] AND SPATA16 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TCGARVUCECTCGA-AX-A3FW-01AEAF1chr3

15469389

+SPATA16chr3

172634271

-
* 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
Frame-shiftENST00000396842ENST00000351008EAF1chr3

15469389

+SPATA16chr3

172634271

-
5UTR-3CDSENST00000432764ENST00000351008EAF1chr3

15469389

+SPATA16chr3

172634271

-

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FusionProtFeatures for EAF1_SPATA16


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EAF1

Q96JC9

SPATA16

Q9BXB7

Acts as a transcriptional transactivator of ELL and ELL2elongation activities. {ECO:0000269|PubMed:11418481,ECO:0000269|PubMed:16006523}.

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 EAF1_SPATA16


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 EAF1_SPATA16


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
EAF1ELL, ELL2, MLLT3, TFPT, ELAVL1, APP, MED26, ICE2, ICE1, ELL3, AFF4, AFF1, CDK9, AES, SDCBP, TFCP2, ZBTB14, HOMER3, PSME3, CEP76, MIPOL1, BEND7, FGGY, EAF2, ASPM, TOP1, FIP1L1, LUC7L2, LUC7L, TAF1A, RSBN1L, RSBN1, RPL26L1, CABIN1, PINX1, LUC7L3, MLLT1, TAF1B, PIP4K2C, PIP4K2B, PIP4K2A, SART1, GTF2F1, EPB41L5, EPB41L4B, NOS1AP, KLHDC3, CPSF4, TAF1D, C1orf35, RBMX2, TAF1C, PLCD3, C9orf114, SPA17, SFSWAP, NFKBIL1, STAC3, CCDC33, XPO1, TC2N, CAMKV, USPL1, FGFRL1, AP3B1, DDX20, NAF1, EIF2AK1, POLD1, ATRX, MFAP1, RBM14, NOLC1, CCDC154, MCM3SPATA16


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 EAF1_SPATA16


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 EAF1_SPATA16


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSPATA16C0403825Globozoospermia1CTD_human;UNIPROT