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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: 33942

FusionGeneSummary for SKAP1_ABCC11

check button Fusion gene summary
Fusion gene informationFusion gene name: SKAP1_ABCC11
Fusion gene ID: 33942
HgeneTgene
Gene symbol

SKAP1

ABCC11

Gene ID

8631

85320

Gene namesrc kinase associated phosphoprotein 1ATP binding cassette subfamily C member 11
SynonymsHEL-S-81p|SCAP1|SKAP55EWWD|MRP8|WW
Cytomap

17q21.32

16q12.1

Type of geneprotein-codingprotein-coding
Descriptionsrc kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDaATP-binding cassette sub-family C member 11ATP-binding cassette protein C11ATP-binding cassette transporter MRP8ATP-binding cassette transporter sub-family C member 11ATP-binding cassette, sub-family C (CFTR/MRP), member 11multi-resistance protein 8
Modification date2018052320180523
UniProtAcc

Q86WV1

Q96J66

Ensembl transtripts involved in fusion geneENST00000336915, ENST00000584924, 
ENST00000353782, ENST00000356608, 
ENST00000394747, ENST00000394748, 
ENST00000537808, ENST00000565329, 
Fusion gene scores* DoF score16 X 4 X 7=4484 X 2 X 2=16
# samples 164
** MAII scorelog2(16/448*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SKAP1 [Title/Abstract] AND ABCC11 [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
HgeneSKAP1

GO:0045944

positive regulation of transcription by RNA polymerase II

11909961

TgeneABCC11

GO:0015711

organic anion transport

15537867|16359813

TgeneABCC11

GO:0015865

purine nucleotide transport

12764137


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
TCGARVBRCATCGA-BH-A0C3-01ASKAP1chr17

46423267

-ABCC11chr16

48211024

-
* 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-shitENST00000336915ENST00000353782SKAP1chr17

46423267

-ABCC11chr16

48211024

-
Frame-shitENST00000336915ENST00000356608SKAP1chr17

46423267

-ABCC11chr16

48211024

-
Frame-shitENST00000336915ENST00000394747SKAP1chr17

46423267

-ABCC11chr16

48211024

-
Frame-shitENST00000336915ENST00000394748SKAP1chr17

46423267

-ABCC11chr16

48211024

-
5CDS-intronENST00000336915ENST00000537808SKAP1chr17

46423267

-ABCC11chr16

48211024

-
5CDS-5UTRENST00000336915ENST00000565329SKAP1chr17

46423267

-ABCC11chr16

48211024

-
Frame-shitENST00000584924ENST00000353782SKAP1chr17

46423267

-ABCC11chr16

48211024

-
Frame-shitENST00000584924ENST00000356608SKAP1chr17

46423267

-ABCC11chr16

48211024

-
Frame-shitENST00000584924ENST00000394747SKAP1chr17

46423267

-ABCC11chr16

48211024

-
Frame-shitENST00000584924ENST00000394748SKAP1chr17

46423267

-ABCC11chr16

48211024

-
5CDS-intronENST00000584924ENST00000537808SKAP1chr17

46423267

-ABCC11chr16

48211024

-
5CDS-5UTRENST00000584924ENST00000565329SKAP1chr17

46423267

-ABCC11chr16

48211024

-

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FusionProtFeatures for SKAP1_ABCC11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SKAP1

Q86WV1

ABCC11

Q96J66

Positively regulates T-cell receptor signaling byenhancing the MAP kinase pathway. Required for optimal conjugationbetween T-cells and antigen-presenting cells by promoting theclustering of integrin ITGAL on the surface of T-cells. May beinvolved in high affinity immunoglobulin epsilon receptorsignaling in mast cells. {ECO:0000269|PubMed:10856234,ECO:0000269|PubMed:11909961, ECO:0000269|PubMed:12652296,ECO:0000269|PubMed:15939789, ECO:0000269|PubMed:16980616}. Participates in physiological processes involving bileacids, conjugated steroids and cyclic nucleotides(PubMed:12764137, PubMed:15537867). Enhances the cellularextrusion of cAMP and cGMP (PubMed:12764137, PubMed:15537867).Stimulates the ATP-dependent uptake of a range of physiologicaland synthetic lipophilic anions, including the glutathione S-conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroidsulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) andestrone 3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids glycocholateand taurocholate, and methotrexate (PubMed:15537867,PubMed:25896536). Probably functions to secrete earwax(PubMed:16444273, PubMed:19383836). Required for the secretion ofcomponents contributing to axillary odor formation(PubMed:19710689). {ECO:0000269|PubMed:12764137,ECO:0000269|PubMed:15537867, ECO:0000269|PubMed:16444273,ECO:0000269|PubMed:19383836, ECO:0000269|PubMed:19710689,ECO:0000269|PubMed:25896536}.

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 SKAP1_ABCC11


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 SKAP1_ABCC11


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
SKAP1PTPRC, FYB, SRC, LYN, FYN, LCK, SKAP1, GRB2, APP, BLCAP, SH2D4A, PRAM1, FAM102A, AP3M1, MYO9B, MYO9A, POLR1B, LOC81691, EML3, WRN, ASPM, JPH1, POLR1A, POLR3A, RECQL4, HPS3, ZNF324, FAM208A, UXT, NCAPD3, MYCBP2, CUL2, PIP5K1A, NEK1, PLEKHH3, PHLDB3, PIK3C3, SEC63, SKAP2, GTF3C1, URI1, PIK3R2, PIK3R3, POLRMT, PLD2, UCKL1, PRR14L, KSR1, ZNHIT6, PDRG1, SETX, NEFL, ALMS1, APPBP2, DDX11L8, UTP15, SENP5, NCAPH2, PAX3, TBL2, ZNHIT2, ZNF644, SUGCT, PKN3, TTF2, PPHLN1, NPHP4, MTMR1, PKN2, C21orf2, POLA1, POLR3B, POLR2L, CCP110, SETD5, ELP3, DOCK7, USP54, POLR1E, TRMT44, POLR1D, EXPH5, NEK4, ATXN2, SBF1, GTPBP6, TRMT1, CD3EAP, PER1, SUPT6H, MCM8, RTEL1, TIGD5, PUSL1, KLHDC3, DYNLL2, MAP7D1ABCC11


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 SKAP1_ABCC11


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 SKAP1_ABCC11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSKAP1C0919267ovarian neoplasm1CTD_human