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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:ABHD17A-TCF3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ABHD17A-TCF3
FusionPDB ID: 403
FusionGDB2.0 ID: 403
HgeneTgene
Gene symbol

ABHD17A

TCF3

Gene ID

81926

83439

Gene nameabhydrolase domain containing 17A, depalmitoylasetranscription factor 7 like 1
SynonymsC19orf27|FAM108A1TCF-3|TCF3
Cytomap

19p13.3

2p11.2

Type of geneprotein-codingprotein-coding
Descriptionalpha/beta hydrolase domain-containing protein 17Aabhydrolase domain containing 17Aabhydrolase domain-containing protein 17Aabhydrolase domain-containing protein FAM108A1family with sequence similarity 108, member A1protein ABHD17Atranscription factor 7-like 1HMG box transcription factor 3transcription factor 7-like 1 (T-cell specific, HMG-box)
Modification date2020031320200313
UniProtAcc

Q96GS6

TFPT

Ensembl transtripts involved in fusion geneENST idsENST00000250974, ENST00000292577, 
ENST00000590661, 
ENST00000395423, 
ENST00000453954, ENST00000588136, 
ENST00000262965, ENST00000344749, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 4 X 6=14412 X 15 X 8=1440
# samples 617
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1440*10)=-3.08246216019197
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ABHD17A [Title/Abstract] AND TCF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ABHD17A(1881234)-TCF3(1646426), # samples:2
Anticipated loss of major functional domain due to fusion event.ABHD17A-TCF3 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.
ABHD17A-TCF3 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.
ABHD17A-TCF3 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.
ABHD17A-TCF3 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.
ABHD17A-TCF3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ABHD17A-TCF3 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
ABHD17A-TCF3 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
ABHD17A-TCF3 seems lost the major protein functional domain in Tgene 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 ABHD17A (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 TCF3 (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
ChimerDB4PRADTCGA-2A-A8VT-01AABHD17Achr19

1881234

-TCF3chr19

1646426

-
ChimerDB4PRADTCGA-2A-A8VTABHD17Achr19

1881234

-TCF3chr19

1646426

-


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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)
ENST00000590661ABHD17Achr191881234-ENST00000344749TCF3chr191646426-46483512132234673
ENST00000590661ABHD17Achr191881234-ENST00000262965TCF3chr191646426-46573512132243676

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
ENST00000590661ENST00000344749ABHD17Achr191881234-TCF3chr191646426-0.0249715930.9750284
ENST00000590661ENST00000262965ABHD17Achr191881234-TCF3chr191646426-0.0228274150.97717255

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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

>403_403_1_ABHD17A-TCF3_ABHD17A_chr19_1881234_ENST00000590661_TCF3_chr19_1646426_ENST00000262965_length(amino acids)=676AA_BP=1
MEAAPDGACRLPVQPARAGHHRGLPHQERPRQPRLLHVCSLRAWCQMFPLPVTNGKGRPASLAGAQFGGSGLEDRPSSGSWGSGDQSSSS
FDPSRTFSEGTHFTESHSSLSSSTFLGPGLGGKSGERGAYASFGRDAGVGGLTQAGFLSGELALNSPGPLSPSGMKGTSQYYPSYSGSSR
RRAADGSLDTQPKKVRKVPPGLPSSVYPPSSGEDYGRDATAYPSAKTPSSTYPAPFYVADGSLHPSAELWSPPGQAGFGPMLGGGSSPLP
LPPGSGPVGSSGSSSTFGGLHQHERMGYQLHGAEVNGGLPSASSFSSAPGATYGGVSSHTPPVSGADSLLGSRGTTAGSSGDALGKALAS
IYSPDHSSNNFSSSPSTPVGSPQGLAGTSQWPRAGAPGALSPSYDGGLHGLQSKIEDHLDEAIHVLRSHAVGTAGDMHTLLPGHGALASG
FTGPMSLGGRHAGLVGGSHPEDGLAGSTSLMHNHAALPSQPGTLPDLSRPPDSYSGLGRAGATAAASEIKREEKEDEENTSAADHSEEEK
KELKAPRARTSPDEDEDDLLPPEQKAEREKERRVANNARERLRVRDINEAFKELGRMCQLHLNSEKPQTKLLILHQAVSVILNLEQQVRE

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

>403_403_2_ABHD17A-TCF3_ABHD17A_chr19_1881234_ENST00000590661_TCF3_chr19_1646426_ENST00000344749_length(amino acids)=673AA_BP=1
MEAAPDGACRLPVQPARAGHHRGLPHQERPRQPRLLHVCSLRAWCQMFPLPVTNGKGRPASLAGAQFGGSGLEDRPSSGSWGSGDQSSSS
FDPSRTFSEGTHFTESHSSLSSSTFLGPGLGGKSGERGAYASFGRDAGVGGLTQAGFLSGELALNSPGPLSPSGMKGTSQYYPSYSGSSR
RRAADGSLDTQPKKVRKVPPGLPSSVYPPSSGEDYGRDATAYPSAKTPSSTYPAPFYVADGSLHPSAELWSPPGQAGFGPMLGGGSSPLP
LPPGSGPVGSSGSSSTFGGLHQHERMGYQLHGAEVNGGLPSASSFSSAPGATYGGVSSHTPPVSGADSLLGSRGTTAGSSGDALGKALAS
IYSPDHSSNNFSSSPSTPVGSPQGLAGTSQWPRAGAPGALSPSYDGGLHGLQSKIEDHLDEAIHVLRSHAVGTAGDMHTLLPGHGALASG
FTGPMSLGGRHAGLVGGSHPEDGLAGSTSLMHNHAALPSQPGTLPDLSRPPDSYSGLGRAGATAAASEIKREEKEDEENTSAADHSEEEK
KELKAPRARTSSTDEVLSLEEKDLRDRERRMANNARERVRVRDINEAFRELGRMCQMHLKSDKAQTKLLILQQAVQVILGLEQQVRERNL

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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/chr19:1881234/chr19:1646426)
- 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
ABHD17A

Q96GS6

TCF3

TFPT

FUNCTION: Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards NRAS (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). May have depalmitoylating activity towards MAP6 (By similarity). {ECO:0000250|UniProtKB:Q5XIJ5, ECO:0000269|PubMed:26701913}.253

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
TgeneTCF3chr19:1881234chr19:1646426ENST00000262965119549_60224.0655.0DomainbHLH
TgeneTCF3chr19:1881234chr19:1646426ENST00000344749119549_60224.0652.0DomainbHLH
TgeneTCF3chr19:1881234chr19:1646426ENST00000588136019549_60224.0527.0DomainbHLH
TgeneTCF3chr19:1881234chr19:1646426ENST00000262965119170_17624.0655.0MotifNuclear localization signal
TgeneTCF3chr19:1881234chr19:1646426ENST00000344749119170_17624.0652.0MotifNuclear localization signal
TgeneTCF3chr19:1881234chr19:1646426ENST00000588136019170_17624.0527.0MotifNuclear localization signal
TgeneTCF3chr19:1881234chr19:1646426ENST00000262965119389_42524.0655.0RegionNote=Leucine-zipper
TgeneTCF3chr19:1881234chr19:1646426ENST00000344749119389_42524.0652.0RegionNote=Leucine-zipper
TgeneTCF3chr19:1881234chr19:1646426ENST00000588136019389_42524.0527.0RegionNote=Leucine-zipper

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneTCF3chr19:1881234chr19:1646426ENST0000026296511919_2724.0655.0MotifNote=9aaTAD
TgeneTCF3chr19:1881234chr19:1646426ENST0000034474911919_2724.0652.0MotifNote=9aaTAD
TgeneTCF3chr19:1881234chr19:1646426ENST0000058813601919_2724.0527.0MotifNote=9aaTAD


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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)


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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.
ABHD17A_pLDDT.png
all structure
all structure
TCF3_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.


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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
TCF3HAND2, ID3, SKP2, NHLH1, TCF3, EP300, CREBBP, KAT2B, CALM1, LMX1A, TAL1, LDB1, CBFA2T3, ELK3, MYOD1, ID1, ID2, MYF5, MYF6, MYOG, UBE2I, LYL1, MAPKAPK3, TWIST1, DAXX, MEN1, TCF4, RUNX1T1, RUNX1, TRIM33, INO80E, YY1, RB1, ASB2, SOX2, ELAVL1, ID4, KDM1A, PRMT5, MRPL37, RPL23A, UQCRC2, MRPL49, DDX17, SAFB, EIF5A, MYO1B, GSE1, SLC25A10, BHLHA15, PIP, ALDH18A1, SF3A3, DNAJC10, RPL36A, IMMT, RPS13, DDX20, TET2, PRPF8, RCOR1, TCF24, RPL14, PON2, SSBP1, RPL31, MRPL44, C14orf166, SPIN1, CCT2, MYL6B, CHCHD3, ATP2A3, LANCL2, SLC9A3R1, TIMM50, ERLIN2, MRPL39, ATOH8, SERPINH1, SETSIP, SON, FBL, SLC25A4, EEF1A2, LGALS7, C1QBP, CPD, MRPL23, NHLH2, RPL13, COX7A2, CSTA, PCBP1, NDUFB4, TFF3, FLG2, HNRNPR, ERAL1, RPN2, RBM39, RPL24, LBR, CASP14, STK38, CANX, TCF12, FOXH1, Ube2i, TLE1, KAT2A, TRRAP, SUPT3H, TADA2A, Myod1, Tfap4, Tcf12, Scx, Twist2, Usf1, Rpa1, Ncl, USF1, SCX, TCF21, RPL37, MAPKAPK2, RNF14, FAM115A, PTF1A, Crebbp, HAND1, NEUROD1, MESP2, Bhlhe40, BHLHE40, PARP1, Tcf15, Tcf3, PSMD4, NEDD9, XPO1, BCOR, KIF18A, Id2, Kif13b, Dctn3, ATOH1, FERD3L, NEUROG3, FKBP9, COLGALT2, HNRNPL, EGLN3, OLIG1, OLIG2, IRF2BP2, ASCL1, Neurod1, Neurog1, Neurog2, Ascl1, TRAPPC2L, KHSRP, CARM1, HMGCR, NPRL3, TBL1XR1, VPS45, VPS51, RABGEF1, TRAPPC13, CUL5, TRAPPC2, NPRL2, TRAPPC9, POLE3, B3GNT2, ARL5A, SLC30A5, SAR1A, MOGS, RICTOR, HNRNPD, B4GALT3, SEC23IP, CAND1, CBL, MAN1B1, GCNT2, CTBP1, MAN2A1, TRAPPC12, SEC31A, HIST1H4A, APEX1, GLIS1, AURKA, DACH1, WHSC1L1, ASCL3, TWIST2, nsp5ab, DDX58, NEUROG1, TCF15, TCF23, TAL2, FIGLA, MSGN1, NEUROD4, ASCL4, MSC, USP7,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ABHD17A
TCF3all 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 ABHD17A-TCF3


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 ABHD17A-TCF3


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
TgeneTCF3C0006413Burkitt Lymphoma2CTD_human;ORPHANET
TgeneTCF3C0343640African Burkitt's lymphoma2CTD_human
TgeneTCF3C4721444Burkitt Leukemia2CTD_human
TgeneTCF3C0001768Agammaglobulinemia1CTD_human;GENOMICS_ENGLAND
TgeneTCF3C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneTCF3C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneTCF3C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneTCF3C0398686Primary immune deficiency disorder1GENOMICS_ENGLAND
TgeneTCF3C1832241Agammaglobulinemia, non-Bruton type1ORPHANET
TgeneTCF3C1844383Recurrent bacterial infection1GENOMICS_ENGLAND
TgeneTCF3C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneTCF3C4310786AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT1GENOMICS_ENGLAND