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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:MACF1-CLASP1 (FusionGDB2 ID:50593)

Fusion Gene Summary for MACF1-CLASP1

check button Fusion gene summary
Fusion gene informationFusion gene name: MACF1-CLASP1
Fusion gene ID: 50593
HgeneTgene
Gene symbol

MACF1

CLASP1

Gene ID

23499

23332

Gene namemicrotubule actin crosslinking factor 1cytoplasmic linker associated protein 1
SynonymsABP620|ACF7|LIS9|MACF|OFC4MAST1
Cytomap

1p34.3

2q14.2-q14.3

Type of geneprotein-codingprotein-coding
Descriptionmicrotubule-actin cross-linking factor 1620 kDa actin binding proteinactin cross-linking family protein 7macrophin 1 isoformtrabeculin-alphaCLIP-associating protein 1multiple asters 1multiple asters homolog 1protein Orbit homolog 1
Modification date2020031320200313
UniProtAcc

Q9UPN3

Q7Z460

Ensembl transtripts involved in fusion geneENST00000289893, ENST00000317713, 
ENST00000361689, ENST00000372915, 
ENST00000476350, ENST00000484793, 
ENST00000536367, ENST00000539005, 
ENST00000545844, ENST00000564288, 
ENST00000567887, ENST00000602421, 
ENST00000263710, ENST00000397587, 
ENST00000409078, ENST00000455322, 
ENST00000541377, ENST00000541859, 
ENST00000430234, ENST00000545861, 
Fusion gene scores* DoF score46 X 37 X 13=2212610 X 10 X 6=600
# samples 448
** MAII scorelog2(44/22126*10)=-5.65209532630239
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/600*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MACF1 [Title/Abstract] AND CLASP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMACF1(39874969)-CLASP1(122095928), # samples:1
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
HgeneMACF1

GO:0030334

regulation of cell migration

27693509

HgeneMACF1

GO:0043001

Golgi to plasma membrane protein transport

15265687

HgeneMACF1

GO:0045773

positive regulation of axon extension

22705394

HgeneMACF1

GO:0051893

regulation of focal adhesion assembly

27693509

TgeneCLASP1

GO:0051294

establishment of spindle orientation

21822276

TgeneCLASP1

GO:0051301

cell division

21822276


check buttonFusion gene breakpoints across MACF1 (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 CLASP1 (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
ChiTaRS5.0N/AAJ708378MACF1chr1

39874969

+CLASP1chr2

122095928

-


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Fusion Gene ORF analysis for MACF1-CLASP1

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-3UTRENST00000289893ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000289893ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000289893ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000289893ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000289893ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000289893ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000317713ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000317713ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000317713ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000317713ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000317713ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000317713ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000361689ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000361689ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000361689ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000361689ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000361689ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000361689ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000372915ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000372915ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000372915ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000372915ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000372915ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000372915ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000476350ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000476350ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000476350ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000476350ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000476350ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000476350ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000484793ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000484793ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000484793ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000484793ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000484793ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000484793ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000536367ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000536367ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000536367ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000536367ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000536367ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000536367ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000539005ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000539005ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000539005ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000539005ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000539005ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000539005ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000545844ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000545844ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000545844ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000545844ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000545844ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000545844ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000564288ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000564288ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000564288ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000564288ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000564288ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000564288ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000567887ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000567887ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000567887ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000567887ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000567887ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000567887ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000602421ENST00000263710MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000602421ENST00000397587MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000602421ENST00000409078MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000602421ENST00000455322MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000602421ENST00000541377MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-3UTRENST00000602421ENST00000541859MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000289893ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000289893ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000317713ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000317713ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000361689ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000361689ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000372915ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000372915ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000476350ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000476350ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000484793ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000484793ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000536367ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000536367ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000539005ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000539005ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000545844ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000545844ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000564288ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000564288ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000567887ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000567887ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000602421ENST00000430234MACF1chr1

39874969

+CLASP1chr2

122095928

-
intron-intronENST00000602421ENST00000545861MACF1chr1

39874969

+CLASP1chr2

122095928

-

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 MACF1-CLASP1


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 MACF1-CLASP1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:39874969/:122095928)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MACF1

Q9UPN3

CLASP1

Q7Z460

FUNCTION: [Isoform 2]: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854). Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics (By similarity). Interaction with CAMSAP3 at the minus ends of non-centrosomal microtubules tethers microtubules minus-ends to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4 (PubMed:15265687). Plays a key role in wound healing and epidermal cell migration (By similarity). Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate microtubule dynamics and polarize hair follicle stem cells (By similarity). As a regulator of actin and microtubule arrangement and stabilization, it plays an essential role in neurite outgrowth, branching and spine formation during brain development (By similarity). {ECO:0000250|UniProtKB:Q9QXZ0, ECO:0000269|PubMed:15265687, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:27693509}.FUNCTION: Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle. {ECO:0000269|PubMed:11290329, ECO:0000269|PubMed:12837247, ECO:0000269|PubMed:15631994, ECO:0000269|PubMed:16866869, ECO:0000269|PubMed:16914514, ECO:0000269|PubMed:17543864}.

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 MACF1-CLASP1


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 MACF1-CLASP1


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 MACF1-CLASP1


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 MACF1-CLASP1


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