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Center for Computational Systems Medicine level2
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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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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:AKIRIN1-MEAF6

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AKIRIN1-MEAF6
FusionPDB ID: 3412
FusionGDB2.0 ID: 3412
HgeneTgene
Gene symbol

AKIRIN1

MEAF6

Gene ID

79647

64769

Gene nameakirin 1MYST/Esa1 associated factor 6
SynonymsC1orf108|STRF2C1orf149|CENP-28|EAF6|NY-SAR-91
Cytomap

1p34.3

1p34.3

Type of geneprotein-codingprotein-coding
Descriptionakirin-1chromatin modification-related protein MEAF6Esa1p-associated factor 6 homologcentromere protein 28protein EAF6 homologsarcoma antigen NY-SAR-91
Modification date2020031320200313
UniProtAcc

Q9H9L7

Q9HAF1

Ensembl transtripts involved in fusion geneENST idsENST00000432648, ENST00000446189, 
ENST00000372984, 
ENST00000373073, 
ENST00000448519, ENST00000475828, 
ENST00000296214, ENST00000373074, 
ENST00000373075, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 2=326 X 5 X 5=150
# samples 46
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AKIRIN1 [Title/Abstract] AND MEAF6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AKIRIN1(39463983)-MEAF6(37967597), # samples:4
Anticipated loss of major functional domain due to fusion event.AKIRIN1-MEAF6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AKIRIN1-MEAF6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
TgeneMEAF6

GO:0043968

histone H2A acetylation

14966270

TgeneMEAF6

GO:0043981

histone H4-K5 acetylation

16387653

TgeneMEAF6

GO:0043982

histone H4-K8 acetylation

16387653

TgeneMEAF6

GO:0043983

histone H4-K12 acetylation

16387653

TgeneMEAF6

GO:0043984

histone H4-K16 acetylation

16387653

TgeneMEAF6

GO:0044154

histone H3-K14 acetylation

16387653


check buttonFusion gene breakpoints across AKIRIN1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across MEAF6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4LUADTCGA-55-6712-01AAKIRIN1chr1

39463983

-MEAF6chr1

37967597

-
ChimerDB4LUADTCGA-55-6712-01AAKIRIN1chr1

39463983

+MEAF6chr1

37967597

-
ChimerDB4LUADTCGA-55-6712AKIRIN1chr1

39463983

+MEAF6chr1

37967597

-


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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)
ENST00000432648AKIRIN1chr139463983+ENST00000373075MEAF6chr137967597-2309519158784208
ENST00000432648AKIRIN1chr139463983+ENST00000296214MEAF6chr137967597-1676519158754198
ENST00000432648AKIRIN1chr139463983+ENST00000373074MEAF6chr137967597-1543519158754198
ENST00000446189AKIRIN1chr139463983+ENST00000373075MEAF6chr137967597-224445493719208
ENST00000446189AKIRIN1chr139463983+ENST00000296214MEAF6chr137967597-161145493689198
ENST00000446189AKIRIN1chr139463983+ENST00000373074MEAF6chr137967597-147845493689198

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
ENST00000432648ENST00000373075AKIRIN1chr139463983+MEAF6chr137967597-0.0032649050.99673504
ENST00000432648ENST00000296214AKIRIN1chr139463983+MEAF6chr137967597-0.0081590260.99184096
ENST00000432648ENST00000373074AKIRIN1chr139463983+MEAF6chr137967597-0.0095095290.99049044
ENST00000446189ENST00000373075AKIRIN1chr139463983+MEAF6chr137967597-0.0038697210.9961302
ENST00000446189ENST00000296214AKIRIN1chr139463983+MEAF6chr137967597-0.0106025520.9893974
ENST00000446189ENST00000373074AKIRIN1chr139463983+MEAF6chr137967597-0.0127966140.9872034

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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

>3412_3412_1_AKIRIN1-MEAF6_AKIRIN1_chr1_39463983_ENST00000432648_MEAF6_chr1_37967597_ENST00000296214_length(amino acids)=198AA_BP=108
MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQPAPPGSERRLPTPEQIFQNIKQEYSRYQRW
RHLEVVLNQSEACASESQPHSSALTAPSSPGEPGSGTESDTSPDFHNQENEPSQEDPEDLDGSVQGVKPQKAASSTSSGSHHSSHKKRKN

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

>3412_3412_2_AKIRIN1-MEAF6_AKIRIN1_chr1_39463983_ENST00000432648_MEAF6_chr1_37967597_ENST00000373074_length(amino acids)=198AA_BP=108
MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQPAPPGSERRLPTPEQIFQNIKQEYSRYQRW
RHLEVVLNQSEACASESQPHSSALTAPSSPGEPGSGTESDTSPDFHNQENEPSQEDPEDLDGSVQGVKPQKAASSTSSGSHHSSHKKRKN

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

>3412_3412_3_AKIRIN1-MEAF6_AKIRIN1_chr1_39463983_ENST00000432648_MEAF6_chr1_37967597_ENST00000373075_length(amino acids)=208AA_BP=108
MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQPAPPGSERRLPTPEQIFQNIKQEYSRYQRW
RHLEVVLNQSEACASESQPHSSALTAPSSPGEPGSGTESDTSPDFHNQENEPSQEDPEDLDGSVQGVKPQKAASSTSSGSHHSSHKKRKN

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

>3412_3412_4_AKIRIN1-MEAF6_AKIRIN1_chr1_39463983_ENST00000446189_MEAF6_chr1_37967597_ENST00000296214_length(amino acids)=198AA_BP=108
MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQPAPPGSERRLPTPEQIFQNIKQEYSRYQRW
RHLEVVLNQSEACASESQPHSSALTAPSSPGEPGSGTESDTSPDFHNQENEPSQEDPEDLDGSVQGVKPQKAASSTSSGSHHSSHKKRKN

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

>3412_3412_5_AKIRIN1-MEAF6_AKIRIN1_chr1_39463983_ENST00000446189_MEAF6_chr1_37967597_ENST00000373074_length(amino acids)=198AA_BP=108
MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQPAPPGSERRLPTPEQIFQNIKQEYSRYQRW
RHLEVVLNQSEACASESQPHSSALTAPSSPGEPGSGTESDTSPDFHNQENEPSQEDPEDLDGSVQGVKPQKAASSTSSGSHHSSHKKRKN

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

>3412_3412_6_AKIRIN1-MEAF6_AKIRIN1_chr1_39463983_ENST00000446189_MEAF6_chr1_37967597_ENST00000373075_length(amino acids)=208AA_BP=108
MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQPAPPGSERRLPTPEQIFQNIKQEYSRYQRW
RHLEVVLNQSEACASESQPHSSALTAPSSPGEPGSGTESDTSPDFHNQENEPSQEDPEDLDGSVQGVKPQKAASSTSSGSHHSSHKKRKN

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

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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/chr1:39463983/chr1:37967597)
- 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
AKIRIN1

Q9H9L7

MEAF6

Q9HAF1

FUNCTION: Functions as signal transducer for MSTN during skeletal muscle regeneration and myogenesis. May regulate chemotaxis of both macrophages and myoblasts by reorganising actin cytoskeleton, leading to more efficient lamellipodia formation via a PI3 kinase dependent pathway. {ECO:0000250|UniProtKB:Q99LF1}.FUNCTION: Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A (PubMed:14966270). This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). Component of HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), and have reduced activity toward histone H4 (PubMed:16387653, PubMed:24065767). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:18794358). {ECO:0000269|PubMed:14966270, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:24065767}.

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
HgeneAKIRIN1chr1:39463983chr1:37967597ENST00000432648+2520_73120.33333333333333193.0Compositional biasNote=Pro-rich
HgeneAKIRIN1chr1:39463983chr1:37967597ENST00000446189+2420_73120.33333333333333148.0Compositional biasNote=Pro-rich
HgeneAKIRIN1chr1:39463983chr1:37967597ENST00000432648+2523_28120.33333333333333193.0MotifNote=Nuclear localization signal
HgeneAKIRIN1chr1:39463983chr1:37967597ENST00000446189+2423_28120.33333333333333148.0MotifNote=Nuclear localization signal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMEAF6chr1:39463983chr1:37967597ENST000002962143711_47113.33333333333333192.0Coiled coilOntology_term=ECO:0000255
TgeneMEAF6chr1:39463983chr1:37967597ENST000003730733611_47113.33333333333333193.0Coiled coilOntology_term=ECO:0000255
TgeneMEAF6chr1:39463983chr1:37967597ENST000003730753811_47113.33333333333333202.0Coiled coilOntology_term=ECO:0000255
TgeneMEAF6chr1:39463983chr1:37967597ENST000004485193811_47113.33333333333333157.66666666666666Coiled coilOntology_term=ECO:0000255


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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 >>>298_AKIRIN1_39463983_MEAF6_37967597_ranked_0.pdbAKIRIN13946398339463983ENST00000373074MEAF6chr137967597-
MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQPAPPGSERRLPTPEQIFQNIKQEYSRYQRW
RHLEVVLNQSEACASESQPHSSALTAPSSPGEPGSGTESDTSPDFHNQENEPSQEDPEDLDGSVQGVKPQKAASSTSSGSHHSSHKKRKN
208


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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.
AKIRIN1_pLDDT.png
all structure
all structure
MEAF6_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.
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

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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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AKIRIN1
MEAF6


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 AKIRIN1-MEAF6


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 AKIRIN1-MEAF6


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