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Center for Computational Systems Medicine level3
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Potential Active Site Information

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Potentially Interacting Small Molecules through Virtual Screening

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Biochemical Features of Small Molecules with ADME

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Drug Toxicity Information

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ACTG1-MITF

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ACTG1-MITF
FusionPDB ID: 1695
FusionGDB2.0 ID: 1695
HgeneTgene
Gene symbol

ACTG1

MITF

Gene ID

71

4286

Gene nameactin gamma 1melanocyte inducing transcription factor
SynonymsACT|ACTG|DFNA20|DFNA26|HEL-176CMM8|COMMAD|MI|WS2|WS2A|bHLHe32
Cytomap

17q25.3

3p13

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176microphthalmia-associated transcription factorclass E basic helix-loop-helix protein 32melanogenesis associated transcription factormicrophtalmia-associated transcription factor
Modification date2020032720200329
UniProtAcc

P63261

O75030

Ensembl transtripts involved in fusion geneENST idsENST00000331925, ENST00000573283, 
ENST00000575087, ENST00000575842, 
ENST00000394348, ENST00000314557, 
ENST00000314589, ENST00000328528, 
ENST00000352241, ENST00000394351, 
ENST00000394355, ENST00000448226, 
ENST00000472437, ENST00000531774, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score51 X 36 X 13=2386810 X 9 X 7=630
# samples 5810
** MAII scorelog2(58/23868*10)=-5.36288097153997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/630*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ACTG1 [Title/Abstract] AND MITF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)
Anticipated loss of major functional domain due to fusion event.ACTG1-MITF seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ACTG1-MITF seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
ACTG1-MITF seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
TgeneMITF

GO:0010628

positive regulation of gene expression

22234890

TgeneMITF

GO:0045893

positive regulation of transcription, DNA-templated

9647758

TgeneMITF

GO:0045944

positive regulation of transcription by RNA polymerase II

20530484|21209915

TgeneMITF

GO:0065003

protein-containing complex assembly

20530484

TgeneMITF

GO:2000144

positive regulation of DNA-templated transcription, initiation

8995290|12204775

TgeneMITF

GO:2001141

regulation of RNA biosynthetic process

16411896


check buttonFusion gene breakpoints across ACTG1 (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 MITF (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerKB3..ACTG1chr17

79478929

-MITFchr3

69986973

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000575842ACTG1chr1779478929-ENST00000352241MITFchr369986973+50877903971998533
ENST00000575842ACTG1chr1779478929-ENST00000448226MITFchr369986973+27987903972016539
ENST00000575842ACTG1chr1779478929-ENST00000472437MITFchr369986973+23987903971998533
ENST00000575842ACTG1chr1779478929-ENST00000328528MITFchr369986973+50887903971998533
ENST00000575842ACTG1chr1779478929-ENST00000314589MITFchr369986973+23987903971998533
ENST00000575842ACTG1chr1779478929-ENST00000394355MITFchr369986973+50847903971998533
ENST00000575842ACTG1chr1779478929-ENST00000314557MITFchr369986973+24197903971998533
ENST00000575842ACTG1chr1779478929-ENST00000394351MITFchr369986973+25937903972016539
ENST00000575842ACTG1chr1779478929-ENST00000531774MITFchr369986973+18317903971830478

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 Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>1695_1695_1_ACTG1-MITF_ACTG1_chr17_79478929_ENST00000575842_MITF_chr3_69986973_ENST00000314557_length(amino acids)=533AA_BP=130
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH
VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV
SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTI
LKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLT

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

>1695_1695_2_ACTG1-MITF_ACTG1_chr17_79478929_ENST00000575842_MITF_chr3_69986973_ENST00000314589_length(amino acids)=533AA_BP=130
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH
VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV
SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTI
LKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLT

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

>1695_1695_3_ACTG1-MITF_ACTG1_chr17_79478929_ENST00000575842_MITF_chr3_69986973_ENST00000328528_length(amino acids)=533AA_BP=130
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH
VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV
SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTI
LKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLT

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

>1695_1695_4_ACTG1-MITF_ACTG1_chr17_79478929_ENST00000575842_MITF_chr3_69986973_ENST00000352241_length(amino acids)=533AA_BP=130
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH
VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV
SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTI
LKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLT

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

>1695_1695_5_ACTG1-MITF_ACTG1_chr17_79478929_ENST00000575842_MITF_chr3_69986973_ENST00000394351_length(amino acids)=539AA_BP=130
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH
VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV
SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMR
WNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQ

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

>1695_1695_6_ACTG1-MITF_ACTG1_chr17_79478929_ENST00000575842_MITF_chr3_69986973_ENST00000394355_length(amino acids)=533AA_BP=130
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH
VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV
SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTI
LKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLT

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

>1695_1695_7_ACTG1-MITF_ACTG1_chr17_79478929_ENST00000575842_MITF_chr3_69986973_ENST00000448226_length(amino acids)=539AA_BP=130
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH
VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV
SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMR
WNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQ

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

>1695_1695_8_ACTG1-MITF_ACTG1_chr17_79478929_ENST00000575842_MITF_chr3_69986973_ENST00000472437_length(amino acids)=533AA_BP=130
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH
VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV
SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTI
LKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLT

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

>1695_1695_9_ACTG1-MITF_ACTG1_chr17_79478929_ENST00000575842_MITF_chr3_69986973_ENST00000531774_length(amino acids)=478AA_BP=130
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQQGFYKFEEQNRAESECPGMNTHSRASCMQM
DDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLI
ERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPS
TGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPL

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

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Fusion Protein Functional Features


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/chr17:/chr3:)
- 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
ACTG1

P63261

MITF

O75030

FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. {ECO:0000305|PubMed:29581253}.FUNCTION: Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. {ECO:0000269|PubMed:10587587, ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:27889061, ECO:0000269|PubMed:9647758}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file (259) >>>259.pdbFusion protein BP residue: 130
CIF file (259) >>>259.cif		ACTG1chr1779478929-MITFchr369986973+
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRH
QGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF
YNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQ
QGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILG
LMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELT
ESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWN
KGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQA
RAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLD
LTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPL
478
3D view using mol* of 259 (AA BP:130)
PDB file (360) >>>360.pdbFusion protein BP residue: 130
CIF file (360) >>>360.cif		ACTG1chr1779478929-MITFchr369986973+
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRH
QGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF
YNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQ
QVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTL
NSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSY
NEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSND
PDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQ
ELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLT
CTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPV
533
3D view using mol* of 360 (AA BP:130)
PDB file (372) >>>372.pdbFusion protein BP residue: 130
CIF file (372) >>>372.cif		ACTG1chr1779478929-MITFchr369986973+
MSPSFSGQVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRH
QGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTF
YNELRVAPEEHPVLLTEAPLNPKANREKMTQVQTHLENPTKYHIQQAQRQ
QVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTL
NSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSY
NEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTL
IPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRH
LLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQ
HHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMD
539
3D view using mol* of 372 (AA BP:130)


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
ACTG1_pLDDT.png
all structure
all structure
MITF_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
ACTG1_MITF_259_PAE.png (AA BP:130)
all structure
ACTG1_MITF_259_pLDDT.png (AA BP:130)
all structure
ACTG1_MITF_259_pLDDT_and_active_sites.png (AA BP:130)
all structure
ACTG1_MITF_259_violinplot.png (AA BP:130)
all structure
ACTG1_MITF_360_pLDDT.png (AA BP:130)
all structure
ACTG1_MITF_360_pLDDT_and_active_sites.png (AA BP:130)
all structure
ACTG1_MITF_360_violinplot.png (AA BP:130)
all structure
ACTG1_MITF_372_pLDDT.png (AA BP:130)
all structure
ACTG1_MITF_372_pLDDT_and_active_sites.png (AA BP:130)
all structure
ACTG1_MITF_372_violinplot.png (AA BP:130)
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots
ACTG1_MITF_259.png
all structure
ACTG1_MITF_360.png
all structure
ACTG1_MITF_372.png
all structure

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Potential Active Site Information


check button The potential binding sites of these fusion proteins were identified using SiteMap, a module of the Schrodinger suite.
Fusion AA seq ID in FusionPDBSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
2590.78550.763213.6890.6470.6260.8970.70.9490.7380.407Chain A: 119,144,145,146,147,148,149,150,151,269,2
72,273,276
3600.95655371.0831282.2890.70850.4410.37830.45320.37281.21570.846Chain A: 19,21,28,29,30,31,32,33,34,36,37,114,115,
116,117,119,120,123,126,127,129,130,131,133,139,14
0,142,143,144,146,147,148,149,150,151,153,154
3720.920310171.0507385.8750.80540.38630.30990.25370.37130.68321.597Chain A: 11,12,13,14,15,16,17,32,89,90,93,109,110,
111,112,113,114,115,117,121,126,128,129,130,131,13
2,133,134,135,137,138,139,140,141,142,143,144,145,
146,147,148,149,150,151,152,153,154,155,156,157,15
8,161,191,192,193,194,196,197,241,243,244,245,246,
247,248,251,252,254,255,258,260

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Potentially Interacting Small Molecules through Virtual Screening


check button The FDA-approved small molecule library molecules were subjected to virtual screening using the Glide.
Fusion AA seq ID in FusionPDBZINC IDDrugBank IDDrug nameDocking scoreGlide gscore

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check button Drug information from DrugBank of the top 20 interacting small molecules.
ZINC IDDrugBank IDDrug nameDrug typeSMILESDrug group

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Biochemical Features of Small Molecules


check button ADME (Absorption, Distribution, Metabolism, and Excretion) of drugs using QikProp(v3.9)
ZINC IDmol_MWdipoleSASAFOSAFISAPISAWPSAvolumedonorHBaccptHBIPHuman Oral AbsorptionPercent Human Oral AbsorptionRule Of FiveRule Of Three


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Drug Toxicity Information


check button Toxicity information of individual drugs using eToxPred
ZINC IDSmileSurface AccessibilityToxicity


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
ACTG1CFL2, CFL1, ACTG1, ACTB, DSTN, TMSB4X, FHOD1, EPS8L1, EPS8L2, FEZ1, CTNND1, ST3GAL3, SH3GL2, EIF6, PFN2, PRSS23, BCAP31, RBX1, MDK, CAP1, CAP2, RUVBL2, MEPCE, RUVBL1, gag, MORF4L1, MORF4L2, MRGBP, DMAP1, KAT5, POU5F1, UCHL5, YWHAQ, DISC1, TNIK, RPS6KA5, MAPK6, NDRG1, SP1, UBE2Q2, FBXO25, MYOC, LRRK2, APOE, PSEN2, BRCA1, LIG4, TSGA10, TRAF3IP1, GZMK, GZMA, HSP90AA1, HSP90AB1, PPP1CC, MYC, MLH1, UBL4A, ITGA4, ILF3, AICDA, WIPF1, FN1, CTTN, ADRB2, PLD1, CTBP2, GIT2, GRB2, COTL1, WASL, FBXO6, TOPBP1, CDKN2A, ACTA1, ACTBL2, BRK1, HSPA5, UBASH3B, ERRFI1, LGR4, EHHADH, CCDC22, WDYHV1, CCDC101, CCDC8, EZH2, SUZ12, EED, RNF2, BMI1, FAF2, RPS6KB2, CORO1B, CORO1C, CAD, EEF1A1, EEF1A2, NCKAP1, RAN, YARS, SFN, HSPB2, SRPK2, HIST1H3E, CAPZA2, CDK2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, VCL, IQGAP1, PDLIM7, LIMA1, ANLN, MYO5C, MYO19, MYO18A, Actb, Flot1, Flot2, Myh9, Myo1c, Tpm1, Coro1c, Tmod3, Lima1, Tmed10, Calml3, Myh10, Flnb, TRAF2, VASP, GAN, MCM2, SHC1, ERBB3, RC3H1, Pparg, DUSP19, C17orf89, MCPH1, ACT1, AIP1, SRP1, TAE1, HDAC6, ZNF598, FGFR1, CTNNB1, KRAS, LARS, ACO2, CSNK1A1, TGFB1, PRPF8, EFTUD2, AAR2, PPP5C, CHD3, RIOK1, ESR2, H2AFZ, H3F3A, HIST1H4H, HIST2H2AC, VIM, GPD1, CERS1, HEXIM1, LARP7, CDH1, BIN1, CDK9, TLR9, RC3H2, PSMA3, FAF1, IKBKG, FADD, TANK, USP14, UCHL3, DCTN4, HOOK3, HRAS, MAPT, HIST1H4A, PSMD14, BIRC3, WWP2, HTT, PARK2, CDC37, PLEKHA4, MAGEA3, S, FANCD2, LINC01554, ZC3H18, DOK2, ELK4, MAPK7, PRKCA, PTPN12, PTPRR, RASA1, SH3BGRL, NEK4, DUX4, FASN, LDLR, SREBF2, AIMP2, BRD4, NUPR1, ORF14, Apc2, WDR76, RNF208, EIF3F, INSIG1, INSIG2, RIN3, DDX58, SPOP, ISG15, UFL1, DDRGK1, TP53, NPM1, FXR1, WDR5, BGLT3, SPRTN, BTF3, SLFN11, LHPP, CCNF, MAP1LC3B, NBR1, SQSTM1, OPTN, TOLLIP, NR3C1,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ACTG1all structure
MITFall structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ACTG1-MITF


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ACTG1-MITF


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTG1C3711374Nonsyndromic Deafness18CLINGEN
HgeneACTG1C1858172Deafness, Autosomal Dominant 208CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACTG1C3281235BARAITSER-WINTER SYNDROME 24CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACTG1C0001787Osteoporosis, Age-Related1CTD_human
HgeneACTG1C0005745Blepharoptosis1GENOMICS_ENGLAND
HgeneACTG1C0007097Carcinoma1CTD_human
HgeneACTG1C0007621Neoplastic Cell Transformation1CTD_human
HgeneACTG1C0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTG1C0014544Epilepsy1GENOMICS_ENGLAND
HgeneACTG1C0024433Macrostomia1GENOMICS_ENGLAND
HgeneACTG1C0024667Animal Mammary Neoplasms1CTD_human
HgeneACTG1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTG1C0029456Osteoporosis1CTD_human
HgeneACTG1C0029459Osteoporosis, Senile1CTD_human
HgeneACTG1C0033377Ptosis1GENOMICS_ENGLAND
HgeneACTG1C0205696Anaplastic carcinoma1CTD_human
HgeneACTG1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneACTG1C0205698Undifferentiated carcinoma1CTD_human
HgeneACTG1C0205699Carcinomatosis1CTD_human
HgeneACTG1C0240583Short upturned nose1GENOMICS_ENGLAND
HgeneACTG1C0265541Cranioschisis1CTD_human
HgeneACTG1C0266551Congenital coloboma of iris1ORPHANET
HgeneACTG1C0376634Craniofacial Abnormalities1CTD_human
HgeneACTG1C0497552Congenital neurologic anomalies1CTD_human
HgeneACTG1C0751406Post-Traumatic Osteoporosis1CTD_human
HgeneACTG1C0857379Abnormality of the pinna1GENOMICS_ENGLAND
HgeneACTG1C0948089Acute Coronary Syndrome1CTD_human
HgeneACTG1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneACTG1C1384666hearing impairment1GENOMICS_ENGLAND
HgeneACTG1C1843156Progressive sensorineural hearing impairment1GENOMICS_ENGLAND
HgeneACTG1C1844505Pointed chin1GENOMICS_ENGLAND
HgeneACTG1C1849340Long palpebral fissure1GENOMICS_ENGLAND
HgeneACTG1C1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation1ORPHANET
HgeneACTG1C1865014Long philtrum1GENOMICS_ENGLAND
HgeneACTG1C1865017Thin upper lip vermilion1GENOMICS_ENGLAND
HgeneACTG1C1868571Highly arched eyebrow1GENOMICS_ENGLAND
HgeneACTG1C1970280Hearing loss begins with loss of high frequencies1GENOMICS_ENGLAND
HgeneACTG1C1970281Audiogram shows sloping configuration1GENOMICS_ENGLAND
HgeneACTG1C1970282Deafness, profound, by 6th decade1GENOMICS_ENGLAND
HgeneACTG1C3279369Microphthalmia (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C3549665Deafness (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C3808883Short neck (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4012410Enlarged ventricles (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229649Heart defect (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229650Pterygium colli (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229651Hypertelorism/telecanthus1GENOMICS_ENGLAND
HgeneACTG1C4229652Eye coloboma (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229653Trigonocephaly/metopic ridge1GENOMICS_ENGLAND
HgeneACTG1C4231117Pectus (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4231118Kyphosis/scoliosis (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4231120Prominent nasal root on profile1GENOMICS_ENGLAND
HgeneACTG1C4231121Large, squared nose tip1GENOMICS_ENGLAND
HgeneACTG1C4231123Retrognathia (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4231124Prominent/full/wide cheeks1GENOMICS_ENGLAND
HgeneACTG1C4554007Uveoretinal Coloboma1CTD_human
HgeneACTG1C4708599Coloboma of choroid and retina1ORPHANET
TgeneMITFC2700265Waardenburg Syndrome Type 211CLINGEN;CTD_human;ORPHANET
TgeneMITFC1860339WAARDENBURG SYNDROME, TYPE IIA5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneMITFC3152204MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 84CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneMITFC4310625COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneMITFC0391816Tietz syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneMITFC1863198ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)2GENOMICS_ENGLAND;ORPHANET
TgeneMITFC3266898Waardenburg Syndrome2GENOMICS_ENGLAND;ORPHANET
TgeneMITFC0007134Renal Cell Carcinoma1CTD_human
TgeneMITFC0007621Neoplastic Cell Transformation1CTD_human
TgeneMITFC0011052Prelingual Deafness1CTD_human
TgeneMITFC0011053Deafness1CTD_human
TgeneMITFC0022283Incontinentia Pigmenti Achromians1CTD_human
TgeneMITFC0025202melanoma1CGI;CTD_human
TgeneMITFC0036305Schamberg Disease1CTD_human
TgeneMITFC0078918Albinism, Oculocutaneous1CTD_human
TgeneMITFC0078921Albinism, Tyrosinase-Negative1CTD_human
TgeneMITFC0078922Albinism, Tyrosinase-Positive1CTD_human
TgeneMITFC0078923Albinism, Yellow-Mutant1CTD_human
TgeneMITFC0086395Hearing Loss, Extreme1CTD_human
TgeneMITFC0151779Cutaneous Melanoma1CGI;CTD_human
TgeneMITFC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneMITFC0549567Pigmentation Disorders1CTD_human
TgeneMITFC0581883Complete Hearing Loss1CTD_human
TgeneMITFC0751068Deafness, Acquired1CTD_human
TgeneMITFC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneMITFC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneMITFC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneMITFC1306837Papillary Renal Cell Carcinoma1CTD_human;ORPHANET
TgeneMITFC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome1CLINGEN
TgeneMITFC1848519WAARDENBURG SYNDROME, TYPE 4A1ORPHANET
TgeneMITFC2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET
TgeneMITFC2700405WAARDENBURG SYNDROME, TYPE IIE1CTD_human
TgeneMITFC3665473Bilateral Deafness1CTD_human
TgeneMITFC4082305Deaf Mutism1CTD_human
TgeneMITFC4518333Clear cell papillary renal cell carcinoma1ORPHANET
TgeneMITFC4750999Ocular albinism with congenital sensorineural deafness1GENOMICS_ENGLAND