FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:KIF1B-RERE (FusionGDB2 ID:42415)

Fusion Gene Summary for KIF1B-RERE

check button Fusion gene summary
Fusion gene informationFusion gene name: KIF1B-RERE
Fusion gene ID: 42415
HgeneTgene
Gene symbol

KIF1B

RERE

Gene ID

23095

473

Gene namekinesin family member 1Barginine-glutamic acid dipeptide repeats
SynonymsCMT2|CMT2A|CMT2A1|HMSNII|KLP|NBLST1ARG|ARP|ATN1L|DNB1|NEDBEH
Cytomap

1p36.22

1p36.23

Type of geneprotein-codingprotein-coding
Descriptionkinesin-like protein KIF1Bkinesin superfamily protein KIF1Barginine-glutamic acid dipeptide repeats proteinarginine-glutamic acid dipeptide (RE) repeatsatrophin 2atrophin-1 like proteinatrophin-1 related protein
Modification date2020032820200313
UniProtAcc

O60333

.
Ensembl transtripts involved in fusion geneENST00000377093, ENST00000263934, 
ENST00000377086, ENST00000377083, 
ENST00000377081, ENST00000465635, 
ENST00000337907, ENST00000377464, 
ENST00000400907, ENST00000400908, 
ENST00000476556, ENST00000460659, 
Fusion gene scores* DoF score18 X 19 X 14=478818 X 17 X 8=2448
# samples 2424
** MAII scorelog2(24/4788*10)=-4.31831684133498
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(24/2448*10)=-3.35049724708413
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIF1B [Title/Abstract] AND RERE [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIF1B(10435431)-RERE(8617582), # samples:2
Anticipated loss of major functional domain due to fusion event.KIF1B-RERE seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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 KIF1B (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 RERE (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
ChimerDB4COADTCGA-A6-5664-01AKIF1Bchr1

10435431

+REREchr1

8617582

-
ChimerDB4COADTCGA-A6-5664-01AKIF1Bchr1

10435431

-REREchr1

8617582

-


Top

Fusion Gene ORF analysis for KIF1B-RERE

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
intron-3CDSENST00000377093ENST00000337907KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377093ENST00000377464KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377093ENST00000400907KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377093ENST00000400908KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377093ENST00000476556KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377093ENST00000460659KIF1Bchr1

10435431

+REREchr1

8617582

-
Frame-shiftENST00000263934ENST00000337907KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000263934ENST00000377464KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000263934ENST00000400907KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000263934ENST00000400908KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000263934ENST00000476556KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000263934ENST00000460659KIF1Bchr1

10435431

+REREchr1

8617582

-
Frame-shiftENST00000377086ENST00000337907KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377086ENST00000377464KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377086ENST00000400907KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377086ENST00000400908KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377086ENST00000476556KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377086ENST00000460659KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-3CDSENST00000377083ENST00000337907KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377083ENST00000377464KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377083ENST00000400907KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377083ENST00000400908KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377083ENST00000476556KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000377083ENST00000460659KIF1Bchr1

10435431

+REREchr1

8617582

-
Frame-shiftENST00000377081ENST00000337907KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377081ENST00000377464KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377081ENST00000400907KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377081ENST00000400908KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377081ENST00000476556KIF1Bchr1

10435431

+REREchr1

8617582

-
5CDS-intronENST00000377081ENST00000460659KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-3CDSENST00000465635ENST00000337907KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000465635ENST00000377464KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000465635ENST00000400907KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000465635ENST00000400908KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000465635ENST00000476556KIF1Bchr1

10435431

+REREchr1

8617582

-
intron-intronENST00000465635ENST00000460659KIF1Bchr1

10435431

+REREchr1

8617582

-

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)

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

Top

Fusion Genomic Features for KIF1B-RERE


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.

Top

Fusion Protein Features for KIF1B-RERE


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
KIF1B

O60333

.
FUNCTION: Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis. {ECO:0000269|PubMed:18334619}.; FUNCTION: Isoform 1 mediates the transport of synaptic vesicles in neuronal cells. {ECO:0000250|UniProtKB:O88658}.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


Top

Fusion Gene Sequence for KIF1B-RERE


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.

Top

Fusion Gene PPI Analysis for KIF1B-RERE


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


Top

Related Drugs for KIF1B-RERE


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

Top

Related Diseases for KIF1B-RERE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKIF1BC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome5CLINGEN
HgeneKIF1BC1861678Charcot-Marie-Tooth Disease, Axonal, Type 2a12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneKIF1BC0026769Multiple Sclerosis1CTD_human
HgeneKIF1BC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
TgeneREREC4310772NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneREREC0087031Juvenile-Onset Still Disease1CTD_human
TgeneREREC1842870Chromosome 1p36 Deletion Syndrome1ORPHANET
TgeneREREC3495559Juvenile arthritis1CTD_human
TgeneREREC3714758Juvenile psoriatic arthritis1CTD_human
TgeneREREC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneREREC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human