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Center for Computational Systems Medicine level1
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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-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CELSR1-BTAF1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CELSR1-BTAF1
FusionPDB ID: 15640
FusionGDB2.0 ID: 15640
HgeneTgene
Gene symbol

CELSR1

BTAF1

Gene ID

9620

9044

Gene namecadherin EGF LAG seven-pass G-type receptor 1B-TFIID TATA-box binding protein associated factor 1
SynonymsADGRC1|CDHF9|FMI2|HFMI2|ME2MOT1|TAF(II)170|TAF172|TAFII170
Cytomap

22q13.31

10q23.32

Type of geneprotein-codingprotein-coding
Descriptioncadherin EGF LAG seven-pass G-type receptor 1adhesion G protein-coupled receptor C1cadherin family member 9cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)flamingo homolog 2protocadherin flamingo 2TATA-binding protein-associated factor 172ATP-dependent helicase BTAF1B-TFIID transcription factor-associated 170 kDa subunitBTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)Mot1 homologTBP-associa
Modification date2020032220200313
UniProtAcc

Q9NYQ6

O14981

Ensembl transtripts involved in fusion geneENST idsENST00000262738, ENST00000395964, 
ENST00000497509, 
ENST00000471217, 
ENST00000544642, ENST00000265990, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score23 X 19 X 11=48073 X 3 X 2=18
# samples 283
** MAII scorelog2(28/4807*10)=-4.10163807119293
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CELSR1 [Title/Abstract] AND BTAF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CELSR1(46829290)-BTAF1(93767880), # samples:1
Anticipated loss of major functional domain due to fusion event.CELSR1-BTAF1 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.
CELSR1-BTAF1 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.
CELSR1-BTAF1 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.
CELSR1-BTAF1 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
TgeneBTAF1

GO:0045892

negative regulation of transcription, DNA-templated

9488487


check buttonFusion gene breakpoints across CELSR1 (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 BTAF1 (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
ChimerDB4STADTCGA-BR-A4IY-01ACELSR1chr22

46829290

-BTAF1chr10

93767880

+


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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)
ENST00000262738CELSR1chr2246829290-ENST00000265990BTAF1chr1093767880+78934611065002166

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
ENST00000262738ENST00000265990CELSR1chr2246829290-BTAF1chr1093767880+0.0008841190.9991159

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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

>15640_15640_1_CELSR1-BTAF1_CELSR1_chr22_46829290_ENST00000262738_BTAF1_chr10_93767880_ENST00000265990_length(amino acids)=2166AA_BP=1537
MAPPPPPVLPVLLLLAAAAALPAMGLRAAAWEPRVPGGTRAFALRPGCTYAVGAACTPRAPRELLDVGRDGRLAGRRRVSGAGRPLPLQV
RLVARSAPTALSRRLRARTHLPGCGARARLCGTGARLCGALCFPVPGGCAAAQHSALAAPTTLPACRCPPRPRPRCPGRPICLPPGGSVR
LRLLCALRRAAGAVRVGLALEAATAGTPSASPSPSPPLPPNLPEARAGPARRARRGTSGRGSLKFPMPNYQVALFENEPAGTLILQLHAH
YTIEGEEERVSYYMEGLFDERSRGYFRIDSATGAVSTDSVLDRETKETHVLRVKAVDYSTPPRSATTYITVLVKDTNDHSPVFEQSEYRE
RVRENLEVGYEVLTIRASDRDSPINANLRYRVLGGAWDVFQLNESSGVVSTRAVLDREEAAEYQLLVEANDQGRNPGPLSATATVYIEVE
DENDNYPQFSEQNYVVQVPEDVGLNTAVLRVQATDRDQGQNAAIHYSILSGNVAGQFYLHSLSGILDVINPLDFEDVQKYSLSIKAQDGG
RPPLINSSGVVSVQVLDVNDNEPIFVSSPFQATVLENVPLGYPVVHIQAVDADSGENARLHYRLVDTASTFLGGGSAGPKNPAPTPDFPF
QIHNSSGWITVCAELDREEVEHYSFGVEAVDHGSPPMSSSTSVSITVLDVNDNDPVFTQPTYELRLNEDAAVGSSVLTLQARDRDANSVI
TYQLTGGNTRNRFALSSQRGGGLITLALPLDYKQEQQYVLAVTASDGTRSHTAHVLINVTDANTHRPVFQSSHYTVSVSEDRPVGTSIAT
LSANDEDTGENARITYVIQDPVPQFRIDPDSGTMYTMMELDYENQVAYTLTIMAQDNGIPQKSDTTTLEILILDANDNAPQFLWDFYQGS
IFEDAPPSTSILQVSATDRDSGPNGRLLYTFQGGDDGDGDFYIEPTSGVIRTQRRLDRENVAVYNLWALAVDRGSPTPLSASVEIQVTIL
DINDNAPMFEKDELELFVEENNPVGSVVAKIRANDPDEGPNAQIMYQIVEGDMRHFFQLDLLNGDLRAMVELDFEVRREYVLVVQATSAP
LVSRATVHILLVDQNDNPPVLPDFQILFNNYVTNKSNSFPTGVIGCIPAHDPDVSDSLNYTFVQGNELRLLLLDPATGELQLSRDLDNNR
PLEALMEVSVSDGIHSVTAFCTLRVTIITDDMLTNSITVRLENMSQEKFLSPLLALFVEGVAAVLSTTKDDVFVFNVQNDTDVSSNILNV
TFSALLPGGVRGQFFPSEDLQEQIYLNRTLLTTISTQRVLPFDDNICLREPCENYMKCVSVLRFDSSAPFLSSTTVLFRPIHPINGLRCR
CPPGFTGDYCETEIDLCYSDPCGANGRCRSREGGYTCECFEDFTGEHCEVDARSGRCANGVCKNGGTCVNLLIGGFHCVCPPGEYERPYC
EVTTRSFPPQSFVTFRGLRQRFHFTISLTFATQERNGLLLYNGRFNEKHDFIALEIVDEQVQLTFSAGETTTTVAPKVPSGVSDGRWHSV
QVQYYNKAGIPDPPNMSAELIQLKAKERHFLEQLLDGKKLENYKIPVPINAELRKYQQDGVNWLAFLNKYKLHGILCDDMGLGKTLQSIC
ILAGDHCHRAQEYARSKLAECMPLPSLVVCPPTLTGHWVDEVGKFCSREYLNPLHYTGPPTERIRLQHQVKRHNLIVASYDVVRNDIDFF
RNIKFNYCILDEGHVIKNGKTKLSKAVKQLTANYRIILSGTPIQNNVLELWSLFDFLMPGFLGTERQFAARYGKPILASRDARSSSREQE
AGVLAMDALHRQVLPFLLRRMKEDVLQDLPPKIIQDYYCTLSPLQVQLYEDFAKSRAKCDVDETVSSATLSEETEKPKLKATGHVFQALQ
YLRKLCNHPALVLTPQHPEFKTTAEKLAVQNSSLHDIQHAPKLSALKQLLLDCGLGNGSTSESGTESVVAQHRILIFCQLKSMLDIVEHD
LLKPHLPSVTYLRLDGSIPPGQRHSIVSRFNNDPSIDVLLLTTHVGGLGLNLTGADTVVFVEHDWNPMRDLQAMDRAHRIGQKRVVNVYR
LITRGTLEEKIMGLQKFKMNIANTVISQENSSLQSMGTDQLLDLFTLDKDGKAEKADTSTSGKASMKSILENLSDLWDQEQYDSEYSLEN

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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/chr22:46829290/chr10:93767880)
- 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
CELSR1

Q9NYQ6

BTAF1

O14981

FUNCTION: Receptor that may have an important role in cell/cell signaling during nervous system formation.FUNCTION: Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner.

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
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351000_11011537.03015.0DomainCadherin 8
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351106_12241537.03015.0DomainCadherin 9
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351303_13611537.03015.0DomainEGF-like 1%3B calcium-binding
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351363_13991537.03015.0DomainEGF-like 2%3B calcium-binding
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351403_14411537.03015.0DomainEGF-like 3%3B calcium-binding
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-535246_3531537.03015.0DomainCadherin 1
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-535354_4591537.03015.0DomainCadherin 2
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-535460_5651537.03015.0DomainCadherin 3
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-535566_6871537.03015.0DomainCadherin 4
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-535688_7891537.03015.0DomainCadherin 5
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-535790_8921537.03015.0DomainCadherin 6
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-535893_9991537.03015.0DomainCadherin 7
TgeneBTAF1chr22:46829290chr10:93767880ENST0000026599024381278_14531220.01850.0DomainHelicase ATP-binding
TgeneBTAF1chr22:46829290chr10:93767880ENST0000026599024381636_17901220.01850.0DomainHelicase C-terminal
TgeneBTAF1chr22:46829290chr10:93767880ENST0000026599024381404_14071220.01850.0MotifNote=DEGH box
TgeneBTAF1chr22:46829290chr10:93767880ENST0000026599024381291_12981220.01850.0Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352659_26631537.03015.0Compositional biasNote=Poly-Leu
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351442_16461537.03015.0DomainLaminin G-like 1
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351649_16851537.03015.0DomainEGF-like 4%3B calcium-binding
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351689_18701537.03015.0DomainLaminin G-like 2
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351872_19071537.03015.0DomainEGF-like 5%3B calcium-binding
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351908_19461537.03015.0DomainEGF-like 6%3B calcium-binding
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351947_19791537.03015.0DomainEGF-like 7%3B calcium-binding
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5351981_20161537.03015.0DomainEGF-like 8%3B calcium-binding
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352003_20501537.03015.0DomainLaminin EGF-like
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352408_24601537.03015.0DomainGPS
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-53522_24691537.03015.0Topological domainExtracellular
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352491_25011537.03015.0Topological domainCytoplasmic
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352523_25271537.03015.0Topological domainExtracellular
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352549_25721537.03015.0Topological domainCytoplasmic
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352594_26111537.03015.0Topological domainExtracellular
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352633_26551537.03015.0Topological domainCytoplasmic
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352677_26831537.03015.0Topological domainExtracellular
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352705_30141537.03015.0Topological domainCytoplasmic
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352470_24901537.03015.0TransmembraneHelical%3B Name%3D1
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352502_25221537.03015.0TransmembraneHelical%3B Name%3D2
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352528_25481537.03015.0TransmembraneHelical%3B Name%3D3
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352573_25931537.03015.0TransmembraneHelical%3B Name%3D4
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352612_26321537.03015.0TransmembraneHelical%3B Name%3D5
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352656_26761537.03015.0TransmembraneHelical%3B Name%3D6
HgeneCELSR1chr22:46829290chr10:93767880ENST00000262738-5352684_27041537.03015.0TransmembraneHelical%3B Name%3D7
TgeneBTAF1chr22:46829290chr10:93767880ENST000002659902438191_2071220.01850.0MotifNuclear localization signal
TgeneBTAF1chr22:46829290chr10:93767880ENST0000026599024381102_11391220.01850.0RepeatNote=HEAT 7
TgeneBTAF1chr22:46829290chr10:93767880ENST0000026599024381182_12191220.01850.0RepeatNote=HEAT 8
TgeneBTAF1chr22:46829290chr10:93767880ENST000002659902438385_4221220.01850.0RepeatNote=HEAT 1
TgeneBTAF1chr22:46829290chr10:93767880ENST000002659902438426_4631220.01850.0RepeatNote=HEAT 2
TgeneBTAF1chr22:46829290chr10:93767880ENST000002659902438513_5501220.01850.0RepeatNote=HEAT 3
TgeneBTAF1chr22:46829290chr10:93767880ENST000002659902438554_5961220.01850.0RepeatNote=HEAT 4
TgeneBTAF1chr22:46829290chr10:93767880ENST000002659902438818_8551220.01850.0RepeatNote=HEAT 5
TgeneBTAF1chr22:46829290chr10:93767880ENST000002659902438872_9101220.01850.0RepeatNote=HEAT 6


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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
CELSR1
BTAF1


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 CELSR1-BTAF1


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 CELSR1-BTAF1


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