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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: 19198

FusionGeneSummary for KPNB1_SKAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: KPNB1_SKAP1
Fusion gene ID: 19198
HgeneTgene
Gene symbol

KPNB1

SKAP1

Gene ID

3837

8631

Gene namekaryopherin subunit beta 1src kinase associated phosphoprotein 1
SynonymsIMB1|IPO1|IPOB|Impnb|NTF97HEL-S-81p|SCAP1|SKAP55
Cytomap

17q21.32

17q21.32

Type of geneprotein-codingprotein-coding
Descriptionimportin subunit beta-1PTAC97importin 1importin 90importin beta-1 subunitkaryopherin (importin) beta 1nuclear factor p97pore targeting complex 97 kDa subunitsrc kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDa
Modification date2018052320180523
UniProtAcc

Q14974

Q86WV1

Ensembl transtripts involved in fusion geneENST00000535458, ENST00000290158, 
ENST00000540627, ENST00000537679, 
ENST00000577918, 
ENST00000336915, 
ENST00000584924, 
Fusion gene scores* DoF score6 X 7 X 2=8422 X 8 X 9=1584
# samples 1422
** MAII scorelog2(14/84*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(22/1584*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KPNB1 [Title/Abstract] AND SKAP1 [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
HgeneKPNB1

GO:0006606

protein import into nucleus

15964792

HgeneKPNB1

GO:0006610

ribosomal protein import into nucleus

9687515

TgeneSKAP1

GO:0045944

positive regulation of transcription by RNA polymerase II

11909961


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-D8-A27G-01AKPNB1chr17

45748198

+SKAP1chr17

46239931

-
* 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-shitENST00000535458ENST00000336915KPNB1chr17

45748198

+SKAP1chr17

46239931

-
Frame-shitENST00000535458ENST00000584924KPNB1chr17

45748198

+SKAP1chr17

46239931

-
Frame-shitENST00000290158ENST00000336915KPNB1chr17

45748198

+SKAP1chr17

46239931

-
Frame-shitENST00000290158ENST00000584924KPNB1chr17

45748198

+SKAP1chr17

46239931

-
Frame-shitENST00000540627ENST00000336915KPNB1chr17

45748198

+SKAP1chr17

46239931

-
Frame-shitENST00000540627ENST00000584924KPNB1chr17

45748198

+SKAP1chr17

46239931

-
Frame-shitENST00000537679ENST00000336915KPNB1chr17

45748198

+SKAP1chr17

46239931

-
Frame-shitENST00000537679ENST00000584924KPNB1chr17

45748198

+SKAP1chr17

46239931

-
intron-3CDSENST00000577918ENST00000336915KPNB1chr17

45748198

+SKAP1chr17

46239931

-
intron-3CDSENST00000577918ENST00000584924KPNB1chr17

45748198

+SKAP1chr17

46239931

-

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FusionProtFeatures for KPNB1_SKAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KPNB1

Q14974

SKAP1

Q86WV1

Functions in nuclear protein import, either inassociation with an adapter protein, like an importin-alphasubunit, which binds to nuclear localization signals (NLS) incargo substrates, or by acting as autonomous nuclear transportreceptor. Acting autonomously, serves itself as NLS receptor.Docking of the importin/substrate complex to the nuclear porecomplex (NPC) is mediated by KPNB1 through binding to nucleoporinFxFG repeats and the complex is subsequently translocated throughthe pore by an energy requiring, Ran-dependent mechanism. At thenucleoplasmic side of the NPC, Ran binds to importin-beta and thethree components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysisreleases Ran from importin. The directionality of nuclear importis thought to be conferred by an asymmetric distribution of theGTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.Mediates autonomously the nuclear import of ribosomal proteinsRPL23A, RPS7 and RPL5. Binds to a beta-like import receptorbinding (BIB) domain of RPL23A. In association with IPO7 mediatesthe nuclear import of H1 histone. In vitro, mediates nuclearimport of H2A, H2B, H3 and H4 histones. In case of HIV-1infection, binds and mediates the nuclear import of HIV-1 Rev.Imports SNAI1 and PRKCI into the nucleus.{ECO:0000269|PubMed:10228156, ECO:0000269|PubMed:11891849,ECO:0000269|PubMed:19386897, ECO:0000269|PubMed:24699649,ECO:0000269|PubMed:9687515}. 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}.

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 KPNB1_SKAP1


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 KPNB1_SKAP1


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
KPNB1SREBF2, KPNA2, NUP153, RANBP2, RANBP1, NUP50, SMAD3, SMAD4, KPNA4, KPNA3, KPNA1, KPNA6, IPO7, IPO8, RUNX1T1, NUP62, NUP54, NUP98, RAN, TERF1, NUTF2, SMN1, PTHLH, LYST, TP53, SNUPN, FGFR1, CDT1, MEPCE, RUVBL2, RUVBL1, MLH1, PMS2, AIRE, PAPOLA, NRIP1, ING1, TPX2, NUP107, MGMT, HIST1H1C, SRY, FAN1, RCC1, MORF4L1, MORF4L2, MRGBP, TERF2, VIMP, KPNB1, AMFR, DERL1, UBC, MYC, PPP2CA, CD4, HDAC5, SPG20, CUL4B, MESDC2, EXO1, RAD21, NFATC1, TUBA1A, NFATC2, ELAVL1, ARRB2, SIRT7, RAPGEF3, CUL3, CDK2, COPS5, CAND1, CHD3, PIAS4, PTN, CD99, NXF1, DCAF8, RAE1, GRK5, NDN, IPO5, KPNA5, HSPA5, IPO9, BARD1, ECT2, MDC1, TP53BP1, NOTCH1, SMURF1, YWHAE, ERBB2, FN1, VCAM1, TAF10, TAF8, TAF3, NOS2, SMAD2, UBL4A, ITGA4, CFTR, AICDA, RASSF5, PTMA, ADRB2, SAMHD1, EGFR, CLK3, NLK, CDK11A, DYRK1B, FBXO6, CUL2, STAU1, HUWE1, FUS, MSL1, CUL7, OBSL1, CCDC8, EED, ITCH, RAC1, ILK, JAK2, NUSAP1, LGALS3, UNK, C11orf58, CSE1L, EXOSC2, IPO4, DIS3, NOP56, RPRD1B, SMC3, NCL, RANBP6, SF3B3, NTRK1, NUP85, LCA5, AHSA1, ALDH3A2, ETF1, GLE1, HADHB, SP110, KIFC1, UBE2I, DLGAP5, NSF, NUP88, RANGAP1, TAF4B, TAF11, SUMO1, RNF113A, NUP214, AAAS, CCNK, NUP155, NUP93, RUSC2, MED24, SLC27A2, NUPL2, NUP205, NUP210, NUP160, TMEM194A, NUP188, KIAA1429, UQCR10, SENP1, CERS2, TMEM214, CEP192, CEP55, SMPD4, NDC1, NUP133, THOC2, CHD8, NUP37, ZC3H14, SEH1L, LCOR, PLEKHA8, TMEM209, SERPINB12, YTHDC1, COMTD1, NUP35, CDCA2, NUP43, RGPD8, POM121C, NUMA1, CRY1, ZNF207, BUB3, MCM2, SNW1, CDC5L, SENP3, POU5F1, U2AF2, FAM204A, BMI1, CTDSPL2, PPM1D, TSR1, B2M, SIX2, HP1BP3, STOM, SENP2, MTNR1A, DLD, DLST, DNM1L, HSD17B10, PDHA1, SDHA, SOAT1, SOD1, VDAC1, G3BP1, BRCA1, MTA2SKAP1PTPRC, 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, MAP7D1


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 KPNB1_SKAP1


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 KPNB1_SKAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKPNB1C0019693HIV Infections1CTD_human
TgeneSKAP1C0919267ovarian neoplasm1CTD_human