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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:KPNA6-RHCE (FusionGDB2 ID:43175)

Fusion Gene Summary for KPNA6-RHCE

check button Fusion gene summary
Fusion gene informationFusion gene name: KPNA6-RHCE
Fusion gene ID: 43175
HgeneTgene
Gene symbol

KPNA6

RHCE

Gene ID

23633

6006

Gene namekaryopherin subunit alpha 6Rh blood group CcEe antigens
SynonymsIPOA7CD240CE|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 date2020031320200318
UniProtAcc

O60684

.
Ensembl transtripts involved in fusion geneENST00000373625, ENST00000537234, 
ENST00000469790, ENST00000545542, 
ENST00000294413, ENST00000374352, 
ENST00000413854, ENST00000243186, 
ENST00000455194, ENST00000425135, 
ENST00000340849, ENST00000349320, 
ENST00000346452, ENST00000349438, 
ENST00000495048, 
Fusion gene scores* DoF score12 X 6 X 7=5046 X 4 X 3=72
# samples 166
** MAII scorelog2(16/504*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KPNA6 [Title/Abstract] AND RHCE [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKPNA6(32573735)-RHCE(25697031), # samples:5
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across KPNA6 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RHCE (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4HNSCTCGA-DQ-7591-01AKPNA6chr1

32573735

+RHCEchr1

25697031

-
ChimerDB4HNSCTCGA-DQ-7591KPNA6chr1

32573735

+RHCEchr1

25697031

-
ChimerDB4HNSCTCGA-DQ-7591KPNA6chr1

32573735

+RHCEchr1

25697031

-
ChimerDB4HNSCTCGA-DQ-7591KPNA6chr1

32573735

+RHCEchr1

25697031

-
ChimerDB4HNSCTCGA-DQ-7591-01AKPNA6chr1

32573735

-RHCEchr1

25697031

-


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Fusion Gene ORF analysis for KPNA6-RHCE

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

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000373625KPNA6chr132573735+ENST00000294413RHCEchr125697031-4769716433757
ENST00000373625KPNA6chr132573735+ENST00000374352RHCEchr125697031-4759716433757

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000373625ENST00000294413KPNA6chr132573735+RHCEchr125697031-0.780010.21999
ENST00000373625ENST00000374352KPNA6chr132573735+RHCEchr125697031-0.77664860.22335143

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Fusion Genomic Features for KPNA6-RHCE


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for KPNA6-RHCE


check button Go to

FGviewer for the breakpoints of chr1:32573735-chr1:25697031

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

O60684

.
FUNCTION: Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO:0000269|PubMed:10523667}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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_601.3333333333333333537.0DomainIBB
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+11445_541.3333333333333333537.0MotifNuclear localization signal
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114147_2391.3333333333333333537.0RegionNLS binding site (major)
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114316_4041.3333333333333333537.0RegionNLS binding site (minor)
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114116_1591.3333333333333333537.0RepeatNote=ARM 2
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114160_2041.3333333333333333537.0RepeatNote=ARM 3
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114205_2431.3333333333333333537.0RepeatNote=ARM 4
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114244_2881.3333333333333333537.0RepeatNote=ARM 5
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114289_3281.3333333333333333537.0RepeatNote=ARM 6
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114329_3701.3333333333333333537.0RepeatNote=ARM 7
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114371_4101.3333333333333333537.0RepeatNote=ARM 8
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114411_4531.3333333333333333537.0RepeatNote=ARM 9
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+114457_5021.3333333333333333537.0RepeatNote=ARM 10%3B atypical
HgeneKPNA6chr1:32573735chr1:25697031ENST00000373625+11476_1151.3333333333333333537.0RepeatNote=ARM 1%3B truncated
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413710125_145384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST0000029441371012_32384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413710172_192384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413710203_223384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413710238_258384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413710265_285384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413710287_307384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413710331_351384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST00000294413710358_378384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST0000029441371044_64384.3333333333333418.0TransmembraneHelical
TgeneRHCEchr1:32573735chr1:25697031ENST0000029441371077_97384.3333333333333418.0TransmembraneHelical


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Fusion Gene Sequence for KPNA6-RHCE


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000373625_ENST00000294413_TCGA-DQ-7591-01A_KPNA6_chr1_32573735_+_RHCE_chr1_25697031_length(transcript)=476nt_BP=97nt
CCGTCCTACAGATCCGCCATATTGTCTACTGAAAGCTGCCGCTGAAGCTGCCGCCGTTGCCTCCGCCGCCAAGAGTGAGCGAGCGGACCC
GCGATGGGTTTGCTCCTAAATCTCAAAATATGGAAAGCACCTCATGTGGCTAAATATTTTGATGACCAAGTTTTCTGGAAGTTTCCTCAT
TTGGCTGTTGGATTTTAAGCAAAAGCATCCAAGAAAAACAAGGCCTGTTCAAAAACAAGACAACTTCCTCTCACTGTTGCCTGCATTTGT
ACGTGAGAAACGCTCATGACAGCAAAGTCTCCTTATGTATAATGAAACAAGGTCAGAGACAGATTTGATATTAAAAAATTAAAGACTAAA
AACTTAGTTTAAGAGTCAATTTAATAAGTTTAAAATAAATGTTTAGTTTCATTAGGATGATGCTATCAATATTTTCTTGGTTACAGACAC

>In-frame_ENST00000373625_ENST00000294413_TCGA-DQ-7591-01A_KPNA6_chr1_32573735_+_RHCE_chr1_25697031_length(amino acids)=57AA_start in transcript=164_stop in transcript=337

--------------------------------------------------------------
>In-frame_ENST00000373625_ENST00000374352_TCGA-DQ-7591-01A_KPNA6_chr1_32573735_+_RHCE_chr1_25697031_length(transcript)=475nt_BP=97nt
CCGTCCTACAGATCCGCCATATTGTCTACTGAAAGCTGCCGCTGAAGCTGCCGCCGTTGCCTCCGCCGCCAAGAGTGAGCGAGCGGACCC
GCGATGGGTTTGCTCCTAAATCTCAAAATATGGAAAGCACCTCATGTGGCTAAATATTTTGATGACCAAGTTTTCTGGAAGTTTCCTCAT
TTGGCTGTTGGATTTTAAGCAAAAGCATCCAAGAAAAACAAGGCCTGTTCAAAAACAAGACAACTTCCTCTCACTGTTGCCTGCATTTGT
ACGTGAGAAACGCTCATGACAGCAAAGTCTCCTTATGTATAATGAAACAAGGTCAGAGACAGATTTGATATTAAAAAATTAAAGACTAAA
AACTTAGTTTAAGAGTCAATTTAATAAGTTTAAAATAAATGTTTAGTTTCATTAGGATGATGCTATCAATATTTTCTTGGTTACAGACAC

>In-frame_ENST00000373625_ENST00000374352_TCGA-DQ-7591-01A_KPNA6_chr1_32573735_+_RHCE_chr1_25697031_length(amino acids)=57AA_start in transcript=164_stop in transcript=337

--------------------------------------------------------------

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Fusion Gene PPI Analysis 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


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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Related Drugs for KPNA6-RHCE


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for KPNA6-RHCE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRHCEC0272052Rh Deficiency Syndrome2ORPHANET
TgeneRHCEC1849387Rh-Null, Regulator Type2ORPHANET
TgeneRHCEC0002881Anemia, Hemolytic, Congenital1CTD_human