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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: 19188

FusionGeneSummary for KPNA6_RHCE

check button Fusion gene summary
Fusion gene informationFusion gene name: KPNA6_RHCE
Fusion gene ID: 19188
HgeneTgene
Gene symbol

KPNA6

RHCE

Gene ID

23633

6006

Gene namekaryopherin subunit alpha 6Rh blood group CcEe antigens
SynonymsIPOA7|KPNA7CD240CE|RH|RH30A|RHC|RHCe(152N)|RHE|RHIXB|RHNA|RHPI|Rh4|RhIVb(J)|RhVI|RhVIII
Cytomap

1p35.2

1p36.11

Type of geneprotein-codingprotein-coding
Descriptionimportin subunit alpha-7importin alpha 7 subunitimportin-alpha-S2karyopherin alpha 6 (importin alpha 7)blood group Rh(CE) polypeptide(C)ces type 1 Rhesus blood group D antigenRHCE blood group variant Crawford antigen Rh43Rh blood group C antigenRh blood group CE antigenRh blood group CcEe antigenRh blood group D antigenRh blood group antigen EvansR
Modification date2018052320180525
UniProtAcc

O60684

P18577

Ensembl transtripts involved in fusion geneENST00000373625, ENST00000537234, 
ENST00000469790, ENST00000545542, 
ENST00000294413, ENST00000374352, 
ENST00000413854, ENST00000243186, 
ENST00000455194, ENST00000425135, 
ENST00000340849, ENST00000349320, 
ENST00000346452, ENST00000349438, 
ENST00000495048, 
Fusion gene scores* DoF score8 X 4 X 7=2241 X 1 X 1=1
# samples 111
** MAII scorelog2(11/224*10)=-1.02599520853294
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: KPNA6 [Title/Abstract] AND RHCE [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
TCGARVHNSCTCGA-DQ-7591-01AKPNA6chr1

32573735

+RHCEchr1

25697031

-
* 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
In-frameENST00000373625ENST00000294413KPNA6chr1

32573735

+RHCEchr1

25697031

-
In-frameENST00000373625ENST00000374352KPNA6chr1

32573735

+RHCEchr1

25697031

-
5CDS-intronENST00000373625ENST00000413854KPNA6chr1

32573735

+RHCEchr1

25697031

-
5CDS-intronENST00000373625ENST00000243186KPNA6chr1

32573735

+RHCEchr1

25697031

-
5CDS-intronENST00000373625ENST00000455194KPNA6chr1

32573735

+RHCEchr1

25697031

-
5CDS-intronENST00000373625ENST00000425135KPNA6chr1

32573735

+RHCEchr1

25697031

-
5CDS-intronENST00000373625ENST00000340849KPNA6chr1

32573735

+RHCEchr1

25697031

-
5CDS-intronENST00000373625ENST00000349320KPNA6chr1

32573735

+RHCEchr1

25697031

-
5CDS-intronENST00000373625ENST00000346452KPNA6chr1

32573735

+RHCEchr1

25697031

-
5CDS-intronENST00000373625ENST00000349438KPNA6chr1

32573735

+RHCEchr1

25697031

-
5CDS-intronENST00000373625ENST00000495048KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-3CDSENST00000537234ENST00000294413KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-3CDSENST00000537234ENST00000374352KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000537234ENST00000413854KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000537234ENST00000243186KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000537234ENST00000455194KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000537234ENST00000425135KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000537234ENST00000340849KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000537234ENST00000349320KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000537234ENST00000346452KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000537234ENST00000349438KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000537234ENST00000495048KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-3CDSENST00000469790ENST00000294413KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-3CDSENST00000469790ENST00000374352KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000469790ENST00000413854KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000469790ENST00000243186KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000469790ENST00000455194KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000469790ENST00000425135KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000469790ENST00000340849KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000469790ENST00000349320KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000469790ENST00000346452KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000469790ENST00000349438KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000469790ENST00000495048KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-3CDSENST00000545542ENST00000294413KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-3CDSENST00000545542ENST00000374352KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000545542ENST00000413854KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000545542ENST00000243186KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000545542ENST00000455194KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000545542ENST00000425135KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000545542ENST00000340849KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000545542ENST00000349320KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000545542ENST00000346452KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000545542ENST00000349438KPNA6chr1

32573735

+RHCEchr1

25697031

-
intron-intronENST00000545542ENST00000495048KPNA6chr1

32573735

+RHCEchr1

25697031

-

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FusionProtFeatures for KPNA6_RHCE


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KPNA6

O60684

RHCE

P18577

Functions in nuclear protein import as an adapterprotein for nuclear receptor KPNB1. Binds specifically anddirectly to substrates containing either a simple or bipartite NLSmotif. Docking of the importin/substrate complex to the nuclearpore complex (NPC) is mediated by KPNB1 through binding tonucleoporin FxFG repeats and the complex is subsequentlytranslocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ranbinds to importin-beta and the three components separate andimportin-alpha and -beta are re-exported from the nucleus to thecytoplasm where GTP hydrolysis releases Ran from importin. Thedirectionality of nuclear import is thought to be conferred by anasymmetric distribution of the GTP- and GDP-bound forms of Ranbetween the cytoplasm and nucleus. {ECO:0000269|PubMed:10523667}.

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
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+1141_601537DomainIBB
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+11445_541537MotifNuclear localization signal
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114147_2391537RegionNLS binding site (major)
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114316_4041537RegionNLS binding site (minor)
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114116_1591537RepeatNote=ARM 2
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114160_2041537RepeatNote=ARM 3
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114205_2431537RepeatNote=ARM 4
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114244_2881537RepeatNote=ARM 5
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114289_3281537RepeatNote=ARM 6
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114329_3701537RepeatNote=ARM 7
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114371_4101537RepeatNote=ARM 8
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114411_4531537RepeatNote=ARM 9
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114457_5021537RepeatNote=ARM 10%3B atypical
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+11476_1151537RepeatNote=ARM 1%3B truncated
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-710125_145384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-71012_32384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-710172_192384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-710203_223384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-710238_258384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-710265_285384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-710287_307384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-710331_351384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-710358_378384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-71044_64384418TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413-71077_97384418TransmembraneHelical


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FusionGeneSequence for KPNA6_RHCE


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.
>In-frame_KPNA6_ENST00000373625_chr1_32573735_+_RHCE_ENST00000294413_chr1_25697031_-_35aa

>In-frame_KPNA6_ENST00000373625_chr1_32573735_+_RHCE_ENST00000374352_chr1_25697031_-_35aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_KPNA6_ENST00000373625_chr1_32573735_+_RHCE_ENST00000294413_chr1_25697031_-_105nt
ATGGGTTTGCTCCTAAATCTCAAAATATGGAAAGCACCTCATGTGGCTAAATATTTTGATGACCAAGTTTTCTGGAAGTTTCCTCATTTG

>In-frame_KPNA6_ENST00000373625_chr1_32573735_+_RHCE_ENST00000374352_chr1_25697031_-_105nt
ATGGGTTTGCTCCTAAATCTCAAAATATGGAAAGCACCTCATGTGGCTAAATATTTTGATGACCAAGTTTTCTGGAAGTTTCCTCATTTG


* Fusion transcript sequences (Full-length transcript).
>In-frame_KPNA6_ENST00000373625_chr1_32573735_+_RHCE_ENST00000294413_chr1_25697031_-_476nt
CCGTCCTACAGATCCGCCATATTGTCTACTGAAAGCTGCCGCTGAAGCTGCCGCCGTTGCCTCCGCCGCCAAGAGTGAGCGAGCGGACCC
GCGATGGGTTTGCTCCTAAATCTCAAAATATGGAAAGCACCTCATGTGGCTAAATATTTTGATGACCAAGTTTTCTGGAAGTTTCCTCAT
TTGGCTGTTGGATTTTAAGCAAAAGCATCCAAGAAAAACAAGGCCTGTTCAAAAACAAGACAACTTCCTCTCACTGTTGCCTGCATTTGT
ACGTGAGAAACGCTCATGACAGCAAAGTCTCCTTATGTATAATGAAACAAGGTCAGAGACAGATTTGATATTAAAAAATTAAAGACTAAA
AACTTAGTTTAAGAGTCAATTTAATAAGTTTAAAATAAATGTTTAGTTTCATTAGGATGATGCTATCAATATTTTCTTGGTTACAGACAC

>In-frame_KPNA6_ENST00000373625_chr1_32573735_+_RHCE_ENST00000374352_chr1_25697031_-_475nt
CCGTCCTACAGATCCGCCATATTGTCTACTGAAAGCTGCCGCTGAAGCTGCCGCCGTTGCCTCCGCCGCCAAGAGTGAGCGAGCGGACCC
GCGATGGGTTTGCTCCTAAATCTCAAAATATGGAAAGCACCTCATGTGGCTAAATATTTTGATGACCAAGTTTTCTGGAAGTTTCCTCAT
TTGGCTGTTGGATTTTAAGCAAAAGCATCCAAGAAAAACAAGGCCTGTTCAAAAACAAGACAACTTCCTCTCACTGTTGCCTGCATTTGT
ACGTGAGAAACGCTCATGACAGCAAAGTCTCCTTATGTATAATGAAACAAGGTCAGAGACAGATTTGATATTAAAAAATTAAAGACTAAA
AACTTAGTTTAAGAGTCAATTTAATAAGTTTAAAATAAATGTTTAGTTTCATTAGGATGATGCTATCAATATTTTCTTGGTTACAGACAC


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FusionGenePPI for KPNA6_RHCE


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
KPNA6SPOP, RELB, KPNB1, MEPCE, RAC1, CREBBP, KEAP1, CHD4, ELAVL1, SKP2, CUL3, TAF9, ANP32A, ZNF131, CDKN1B, HDAC1, KPNA2, GFPT1, KPNA3, LMNA, PRKAR2A, TTC1, XRN2, NOP2, NUP50, FRG1B, SURF2, UNK, EXOSC4, IPO5, FBL, HMGB1, NOP58, MORF4L1, MORF4L2, NOP56, PRMT1, PSMC2, RAN, RANBP6, RPL11, NTRK1, MUS81, PTTG1, CDK2AP1, NUP153, NCBP2, CHD8, GSG2, NAF1, CHMP4B, CENPU, FOXE1, MCM2, IKBKG, PHB2, METTL16, MDM2, PTPN2, RNMT, MEAF6, SREK1IP1, KBTBD4, CD2BP2, G3BP1, SMARCB1RHCE


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 KPNA6_RHCE


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 KPNA6_RHCE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRHCEC0002881Anemia, Hemolytic, Congenital1CTD_human