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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:KIF5B-HHAT (FusionGDB2 ID:42538)

Fusion Gene Summary for KIF5B-HHAT

check button Fusion gene summary
Fusion gene informationFusion gene name: KIF5B-HHAT
Fusion gene ID: 42538
HgeneTgene
Gene symbol

KIF5B

HHAT

Gene ID

3799

55733

Gene namekinesin family member 5Bhedgehog acyltransferase
SynonymsHEL-S-61|KINH|KNS|KNS1|UKHCMART2|SKI1|Skn
Cytomap

10p11.22

1q32.2

Type of geneprotein-codingprotein-coding
Descriptionkinesin-1 heavy chainconventional kinesin heavy chainepididymis secretory protein Li 61kinesin 1 (110-120kD)kinesin heavy chainubiquitous kinesin heavy chainprotein-cysteine N-palmitoyltransferase HHATmelanoma antigen recognized by T-cells 2skinny hedgehog protein 1
Modification date2020031320200313
UniProtAcc

P33176

Q9HCP6

Ensembl transtripts involved in fusion geneENST00000302418, ENST00000493889, 
ENST00000541565, ENST00000413764, 
ENST00000391905, ENST00000537898, 
ENST00000545154, ENST00000545781, 
ENST00000308852, ENST00000261458, 
ENST00000367010, ENST00000367009, 
Fusion gene scores* DoF score12 X 17 X 10=20406 X 7 X 5=210
# samples 227
** MAII scorelog2(22/2040*10)=-3.2129937233342
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIF5B [Title/Abstract] AND HHAT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIF5B(32337392)-HHAT(210637849), # samples:3
HHAT(210591669)-KIF5B(32329385), # samples:1
Anticipated loss of major functional domain due to fusion event.KIF5B-HHAT seems lost the major protein functional domain in Hgene partner, which is a CGC 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
HgeneKIF5B

GO:0042391

regulation of membrane potential

19675065

HgeneKIF5B

GO:0043268

positive regulation of potassium ion transport

19675065

HgeneKIF5B

GO:0047496

vesicle transport along microtubule

28426968

HgeneKIF5B

GO:1903078

positive regulation of protein localization to plasma membrane

19675065


check buttonFusion gene breakpoints across KIF5B (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 HHAT (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
ChimerDB4PRADTCGA-VN-A88L-01AKIF5Bchr10

32337392

-HHATchr1

210637849

+
ChimerDB4PRADTCGA-VN-A88LKIF5Bchr10

32337391

-HHATchr1

210637848

+
ChimerDB4PRADTCGA-VN-A88LKIF5Bchr10

32337391

-HHATchr1

210637848

+
ChimerDB4PRADTCGA-VN-A88LKIF5Bchr10

32337392

-HHATchr1

210637849

+
ChimerDB4PRADTCGA-VN-A88LKIF5Bchr10

32337392

-HHATchr1

210686497

+
ChimerDB4PRADTCGA-VN-A88L-01AKIF5Bchr10

32337392

-HHATchr1

210637849

+


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Fusion Gene ORF analysis for KIF5B-HHAT

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-shiftENST00000302418ENST00000541565KIF5Bchr10

32337392

-HHATchr1

210637849

+
Frame-shiftENST00000302418ENST00000413764KIF5Bchr10

32337392

-HHATchr1

210637849

+
Frame-shiftENST00000302418ENST00000391905KIF5Bchr10

32337392

-HHATchr1

210637849

+
Frame-shiftENST00000302418ENST00000537898KIF5Bchr10

32337392

-HHATchr1

210637849

+
Frame-shiftENST00000302418ENST00000545154KIF5Bchr10

32337392

-HHATchr1

210637849

+
Frame-shiftENST00000302418ENST00000545781KIF5Bchr10

32337392

-HHATchr1

210637849

+
Frame-shiftENST00000302418ENST00000308852KIF5Bchr10

32337392

-HHATchr1

210637849

+
Frame-shiftENST00000302418ENST00000261458KIF5Bchr10

32337392

-HHATchr1

210637849

+
Frame-shiftENST00000302418ENST00000367010KIF5Bchr10

32337392

-HHATchr1

210637849

+
5CDS-5UTRENST00000302418ENST00000367009KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-3CDSENST00000493889ENST00000541565KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-3CDSENST00000493889ENST00000413764KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-3CDSENST00000493889ENST00000391905KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-3CDSENST00000493889ENST00000537898KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-3CDSENST00000493889ENST00000545154KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-3CDSENST00000493889ENST00000545781KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-3CDSENST00000493889ENST00000308852KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-3CDSENST00000493889ENST00000261458KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-3CDSENST00000493889ENST00000367010KIF5Bchr10

32337392

-HHATchr1

210637849

+
intron-5UTRENST00000493889ENST00000367009KIF5Bchr10

32337392

-HHATchr1

210637849

+
Frame-shiftENST00000302418ENST00000541565KIF5Bchr10

32337391

-HHATchr1

210637848

+
Frame-shiftENST00000302418ENST00000413764KIF5Bchr10

32337391

-HHATchr1

210637848

+
Frame-shiftENST00000302418ENST00000391905KIF5Bchr10

32337391

-HHATchr1

210637848

+
Frame-shiftENST00000302418ENST00000537898KIF5Bchr10

32337391

-HHATchr1

210637848

+
Frame-shiftENST00000302418ENST00000545154KIF5Bchr10

32337391

-HHATchr1

210637848

+
Frame-shiftENST00000302418ENST00000545781KIF5Bchr10

32337391

-HHATchr1

210637848

+
Frame-shiftENST00000302418ENST00000308852KIF5Bchr10

32337391

-HHATchr1

210637848

+
Frame-shiftENST00000302418ENST00000261458KIF5Bchr10

32337391

-HHATchr1

210637848

+
Frame-shiftENST00000302418ENST00000367010KIF5Bchr10

32337391

-HHATchr1

210637848

+
5CDS-5UTRENST00000302418ENST00000367009KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-3CDSENST00000493889ENST00000541565KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-3CDSENST00000493889ENST00000413764KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-3CDSENST00000493889ENST00000391905KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-3CDSENST00000493889ENST00000537898KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-3CDSENST00000493889ENST00000545154KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-3CDSENST00000493889ENST00000545781KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-3CDSENST00000493889ENST00000308852KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-3CDSENST00000493889ENST00000261458KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-3CDSENST00000493889ENST00000367010KIF5Bchr10

32337391

-HHATchr1

210637848

+
intron-5UTRENST00000493889ENST00000367009KIF5Bchr10

32337391

-HHATchr1

210637848

+
Frame-shiftENST00000302418ENST00000541565KIF5Bchr10

32337392

-HHATchr1

210686497

+
Frame-shiftENST00000302418ENST00000413764KIF5Bchr10

32337392

-HHATchr1

210686497

+
Frame-shiftENST00000302418ENST00000391905KIF5Bchr10

32337392

-HHATchr1

210686497

+
Frame-shiftENST00000302418ENST00000537898KIF5Bchr10

32337392

-HHATchr1

210686497

+
Frame-shiftENST00000302418ENST00000545154KIF5Bchr10

32337392

-HHATchr1

210686497

+
Frame-shiftENST00000302418ENST00000545781KIF5Bchr10

32337392

-HHATchr1

210686497

+
Frame-shiftENST00000302418ENST00000308852KIF5Bchr10

32337392

-HHATchr1

210686497

+
Frame-shiftENST00000302418ENST00000261458KIF5Bchr10

32337392

-HHATchr1

210686497

+
Frame-shiftENST00000302418ENST00000367010KIF5Bchr10

32337392

-HHATchr1

210686497

+
Frame-shiftENST00000302418ENST00000367009KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000541565KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000413764KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000391905KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000537898KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000545154KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000545781KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000308852KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000261458KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000367010KIF5Bchr10

32337392

-HHATchr1

210686497

+
intron-3CDSENST00000493889ENST00000367009KIF5Bchr10

32337392

-HHATchr1

210686497

+

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

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Fusion Genomic Features for KIF5B-HHAT


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)
KIF5Bchr1032337391-HHATchr1210686496+0.0123486090.98765135
KIF5Bchr1032337391-HHATchr1210637848+7.08E-060.99999297
KIF5Bchr1032337391-HHATchr1210637848+7.08E-060.99999297
KIF5Bchr1032337391-HHATchr1210686496+0.0123486090.98765135
KIF5Bchr1032337391-HHATchr1210637848+7.08E-060.99999297
KIF5Bchr1032337391-HHATchr1210637848+7.08E-060.99999297

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 KIF5B-HHAT


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
KIF5B

P33176

HHAT

Q9HCP6

FUNCTION: Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner (By similarity). Regulates centrosome and nuclear positioning during mitotic entry. During the G2 phase of the cell cycle in a BICD2-dependent manner, antagonizes dynein function and drives the separation of nuclei and centrosomes (PubMed:20386726). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity). Through binding with PLEKHM2 and ARL8B, directs lysosome movement toward microtubule plus ends (Probable). Involved in NK cell-mediated cytotoxicity. Drives the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) toward the immune synapse between effector NK lymphocytes and target cells (PubMed:24088571). {ECO:0000250|UniProtKB:Q2PQA9, ECO:0000250|UniProtKB:Q61768, ECO:0000269|PubMed:20386726, ECO:0000269|PubMed:24088571, ECO:0000305|PubMed:22172677, ECO:0000305|PubMed:24088571}.FUNCTION: Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN. {ECO:0000250}.

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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Fusion Gene Sequence for KIF5B-HHAT


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.

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Fusion Gene PPI Analysis for KIF5B-HHAT


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 KIF5B-HHAT


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 KIF5B-HHAT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKIF5BC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneKIF5BC0011849Diabetes Mellitus1CTD_human
TgeneHHATC0036341Schizophrenia1PSYGENET
TgeneHHATC0238198Gastrointestinal Stromal Tumors1CTD_human
TgeneHHATC1838654Nivelon Nivelon Mabille syndrome1ORPHANET
TgeneHHATC3179349Gastrointestinal Stromal Sarcoma1CTD_human