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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:CREB3L2-SHANK2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CREB3L2-SHANK2
FusionPDB ID: 19330
FusionGDB2.0 ID: 19330
HgeneTgene
Gene symbol

CREB3L2

SHANK2

Gene ID

64764

22941

Gene namecAMP responsive element binding protein 3 like 2SH3 and multiple ankyrin repeat domains 2
SynonymsBBF2H7AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3
Cytomap

7q33

11q13.3-q13.4

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 3-like protein 2B-ZIB transcription factorBBF2 human homolog on chromosome 7FUS/BBF2H7 proteinTCAG_1951439basic transcription factor 2cAMP-responsive element-binding protein 3-like protein 2SH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1
Modification date2020031320200326
UniProtAcc

Q70SY1

.
Ensembl transtripts involved in fusion geneENST idsENST00000330387, ENST00000452463, 
ENST00000456390, ENST00000468127, 
ENST00000458726, 		ENST00000468619, 
ENST00000338508, ENST00000357171, 
ENST00000409161, ENST00000409530, 
ENST00000423696, ENST00000449116, 
ENST00000449833, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score15 X 16 X 7=168036 X 29 X 10=10440
# samples 1847
** MAII scorelog2(18/1680*10)=-3.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(47/10440*10)=-4.47331714489225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CREB3L2 [Title/Abstract] AND SHANK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CREB3L2(137686350)-SHANK2(70349036), # samples:3
Anticipated loss of major functional domain due to fusion event.CREB3L2-SHANK2 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.
CREB3L2-SHANK2 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.
CREB3L2-SHANK2 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.
CREB3L2-SHANK2 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
HgeneCREB3L2

GO:0045893

positive regulation of transcription, DNA-templated

17178827


check buttonFusion gene breakpoints across CREB3L2 (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 SHANK2 (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
ChimerDB4BRCATCGA-C8-A1HM-01ACREB3L2chr7

137686350

-SHANK2chr11

70349036

-


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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)
ENST00000330387CREB3L2chr7137686350-ENST00000449833SHANK2chr1170349036-893545435239211189
ENST00000330387CREB3L2chr7137686350-ENST00000409161SHANK2chr1170349036-735845435239211189
ENST00000330387CREB3L2chr7137686350-ENST00000423696SHANK2chr1170349036-737745435239421196
ENST00000330387CREB3L2chr7137686350-ENST00000338508SHANK2chr1170349036-737745435239421196
ENST00000330387CREB3L2chr7137686350-ENST00000409530SHANK2chr1170349036-22074543521002216
ENST00000330387CREB3L2chr7137686350-ENST00000449116SHANK2chr1170349036-1023454352972206
ENST00000330387CREB3L2chr7137686350-ENST00000357171SHANK2chr1170349036-10034543521002217
ENST00000456390CREB3L2chr7137686350-ENST00000449833SHANK2chr1170349036-894546436239311189
ENST00000456390CREB3L2chr7137686350-ENST00000409161SHANK2chr1170349036-736846436239311189
ENST00000456390CREB3L2chr7137686350-ENST00000423696SHANK2chr1170349036-738746436239521196
ENST00000456390CREB3L2chr7137686350-ENST00000338508SHANK2chr1170349036-738746436239521196
ENST00000456390CREB3L2chr7137686350-ENST00000409530SHANK2chr1170349036-22174643621012216
ENST00000456390CREB3L2chr7137686350-ENST00000449116SHANK2chr1170349036-1033464362982206
ENST00000456390CREB3L2chr7137686350-ENST00000357171SHANK2chr1170349036-10134643621012217
ENST00000452463CREB3L2chr7137686350-ENST00000449833SHANK2chr1170349036-892544434239111189
ENST00000452463CREB3L2chr7137686350-ENST00000409161SHANK2chr1170349036-734844434239111189
ENST00000452463CREB3L2chr7137686350-ENST00000423696SHANK2chr1170349036-736744434239321196
ENST00000452463CREB3L2chr7137686350-ENST00000338508SHANK2chr1170349036-736744434239321196
ENST00000452463CREB3L2chr7137686350-ENST00000409530SHANK2chr1170349036-2197444342992216
ENST00000452463CREB3L2chr7137686350-ENST00000449116SHANK2chr1170349036-1013444342962206
ENST00000452463CREB3L2chr7137686350-ENST00000357171SHANK2chr1170349036-993444342992216

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
ENST00000330387ENST00000449833CREB3L2chr7137686350-SHANK2chr1170349036-0.0008873030.99911267
ENST00000330387ENST00000409161CREB3L2chr7137686350-SHANK2chr1170349036-0.0014194860.9985806
ENST00000330387ENST00000423696CREB3L2chr7137686350-SHANK2chr1170349036-0.0014493950.9985506
ENST00000330387ENST00000338508CREB3L2chr7137686350-SHANK2chr1170349036-0.001429160.9985708
ENST00000330387ENST00000409530CREB3L2chr7137686350-SHANK2chr1170349036-0.0143320440.98566794
ENST00000330387ENST00000449116CREB3L2chr7137686350-SHANK2chr1170349036-0.0147603960.9852396
ENST00000330387ENST00000357171CREB3L2chr7137686350-SHANK2chr1170349036-0.021740130.9782599
ENST00000456390ENST00000449833CREB3L2chr7137686350-SHANK2chr1170349036-0.0008949580.99910504
ENST00000456390ENST00000409161CREB3L2chr7137686350-SHANK2chr1170349036-0.0014257130.99857426
ENST00000456390ENST00000423696CREB3L2chr7137686350-SHANK2chr1170349036-0.0014557270.99854434
ENST00000456390ENST00000338508CREB3L2chr7137686350-SHANK2chr1170349036-0.0014350270.998565
ENST00000456390ENST00000409530CREB3L2chr7137686350-SHANK2chr1170349036-0.0185756870.9814243
ENST00000456390ENST00000449116CREB3L2chr7137686350-SHANK2chr1170349036-0.0198084360.9801916
ENST00000456390ENST00000357171CREB3L2chr7137686350-SHANK2chr1170349036-0.0237282660.97627175
ENST00000452463ENST00000449833CREB3L2chr7137686350-SHANK2chr1170349036-0.0008967170.9991033
ENST00000452463ENST00000409161CREB3L2chr7137686350-SHANK2chr1170349036-0.0014505380.9985494
ENST00000452463ENST00000423696CREB3L2chr7137686350-SHANK2chr1170349036-0.0014814350.9985185
ENST00000452463ENST00000338508CREB3L2chr7137686350-SHANK2chr1170349036-0.0014604560.99853957
ENST00000452463ENST00000409530CREB3L2chr7137686350-SHANK2chr1170349036-0.0145056390.9854944
ENST00000452463ENST00000449116CREB3L2chr7137686350-SHANK2chr1170349036-0.016261740.9837383
ENST00000452463ENST00000357171CREB3L2chr7137686350-SHANK2chr1170349036-0.0224530250.97754693

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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

>19330_19330_1_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000330387_SHANK2_chr11_70349036_ENST00000338508_length(amino acids)=1196AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKGVIRKVSDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK
APFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPA
FNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGML
VKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFL
STDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASS
GTAGPGNYVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYE
TDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGR
TIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSK
KPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMK
PIIHKSNALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPG
EGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASP
SPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKE

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

>19330_19330_2_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000330387_SHANK2_chr11_70349036_ENST00000357171_length(amino acids)=217AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKGVIRKGKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK

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

>19330_19330_3_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000330387_SHANK2_chr11_70349036_ENST00000409161_length(amino acids)=1189AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIP
RGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPAFNQNSAA
KVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVE
DSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFLSTDLGDE
DVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGN
YVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYETDLGRDR
KGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGS
MEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSN
CLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSN
ALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPGEGLDSPM
GAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDV
FSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKEDLIDLGV

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

>19330_19330_4_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000330387_SHANK2_chr11_70349036_ENST00000409530_length(amino acids)=216AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK

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

>19330_19330_5_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000330387_SHANK2_chr11_70349036_ENST00000423696_length(amino acids)=1196AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK
APFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPA
FNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGML
VKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFL
STDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASS
GTAGPGNYVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYE
TDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGR
TIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSK
KPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMK
PIIHKSNALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPG
EGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASP
SPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKE

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

>19330_19330_6_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000330387_SHANK2_chr11_70349036_ENST00000449116_length(amino acids)=206AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIPRGT

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

>19330_19330_7_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000330387_SHANK2_chr11_70349036_ENST00000449833_length(amino acids)=1189AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIP
RGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPAFNQNSAA
KVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVE
DSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFLSTDLGDE
DVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGN
YVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYETDLGRDR
KGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGS
MEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSN
CLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSN
ALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPGEGLDSPM
GAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDV
FSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKEDLIDLGV

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

>19330_19330_8_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000452463_SHANK2_chr11_70349036_ENST00000338508_length(amino acids)=1196AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKGVIRKVSDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK
APFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPA
FNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGML
VKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFL
STDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASS
GTAGPGNYVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYE
TDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGR
TIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSK
KPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMK
PIIHKSNALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPG
EGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASP
SPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKE

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

>19330_19330_9_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000452463_SHANK2_chr11_70349036_ENST00000357171_length(amino acids)=216AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKGVIRKGKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK

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

>19330_19330_10_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000452463_SHANK2_chr11_70349036_ENST00000409161_length(amino acids)=1189AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIP
RGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPAFNQNSAA
KVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVE
DSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFLSTDLGDE
DVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGN
YVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYETDLGRDR
KGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGS
MEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSN
CLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSN
ALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPGEGLDSPM
GAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDV
FSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKEDLIDLGV

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

>19330_19330_11_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000452463_SHANK2_chr11_70349036_ENST00000409530_length(amino acids)=216AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK

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

>19330_19330_12_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000452463_SHANK2_chr11_70349036_ENST00000423696_length(amino acids)=1196AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK
APFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPA
FNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGML
VKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFL
STDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASS
GTAGPGNYVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYE
TDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGR
TIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSK
KPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMK
PIIHKSNALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPG
EGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASP
SPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKE

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

>19330_19330_13_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000452463_SHANK2_chr11_70349036_ENST00000449116_length(amino acids)=206AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIPRGT

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

>19330_19330_14_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000452463_SHANK2_chr11_70349036_ENST00000449833_length(amino acids)=1189AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIP
RGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPAFNQNSAA
KVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVE
DSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFLSTDLGDE
DVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGN
YVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYETDLGRDR
KGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGS
MEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSN
CLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSN
ALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPGEGLDSPM
GAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDV
FSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKEDLIDLGV

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

>19330_19330_15_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000456390_SHANK2_chr11_70349036_ENST00000338508_length(amino acids)=1196AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKGVIRKVSDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK
APFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPA
FNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGML
VKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFL
STDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASS
GTAGPGNYVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYE
TDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGR
TIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSK
KPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMK
PIIHKSNALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPG
EGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASP
SPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKE

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

>19330_19330_16_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000456390_SHANK2_chr11_70349036_ENST00000357171_length(amino acids)=217AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKGVIRKGKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK

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

>19330_19330_17_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000456390_SHANK2_chr11_70349036_ENST00000409161_length(amino acids)=1189AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIP
RGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPAFNQNSAA
KVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVE
DSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFLSTDLGDE
DVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGN
YVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYETDLGRDR
KGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGS
MEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSN
CLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSN
ALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPGEGLDSPM
GAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDV
FSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKEDLIDLGV

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

>19330_19330_18_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000456390_SHANK2_chr11_70349036_ENST00000409530_length(amino acids)=216AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK

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

>19330_19330_19_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000456390_SHANK2_chr11_70349036_ENST00000423696_length(amino acids)=1196AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPK
APFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPA
FNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGML
VKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFL
STDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASS
GTAGPGNYVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYE
TDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGR
TIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSK
KPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMK
PIIHKSNALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPG
EGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASP
SPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKE

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

>19330_19330_20_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000456390_SHANK2_chr11_70349036_ENST00000449116_length(amino acids)=206AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIPRGT

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

>19330_19330_21_CREB3L2-SHANK2_CREB3L2_chr7_137686350_ENST00000456390_SHANK2_chr11_70349036_ENST00000449833_length(amino acids)=1189AA_BP=34
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTT
ALTLRSKSMTSELEELVDKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIP
RGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPAFNQNSAA
KVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVE
DSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFLSTDLGDE
DVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGN
YVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYETDLGRDR
KGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGS
MEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSN
CLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSN
ALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPGEGLDSPM
GAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDV
FSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKEDLIDLGV

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

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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/chr7:137686350/chr11:70349036)
- 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
CREB3L2

Q70SY1

.
FUNCTION: Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in chondrogenesis by activating the transcription of SEC23A, which promotes the transport and secretion of cartilage matrix proteins, and possibly that of ER biogenesis-related genes (By similarity). In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcription of target genes via direct binding to the CRE site (PubMed:17178827). {ECO:0000250|UniProtKB:Q8BH52, ECO:0000269|PubMed:17178827}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
TgeneSHANK2chr7:137686350chr11:70349036ENST00000423696616509_535308.01471.0Compositional biasNote=Pro-rich
TgeneSHANK2chr7:137686350chr11:70349036ENST00000449833110509_53599.01255.0Compositional biasNote=Pro-rich
TgeneSHANK2chr7:137686350chr11:70349036ENST000004236966161407_1470308.01471.0DomainSAM
TgeneSHANK2chr7:137686350chr11:70349036ENST000004498331101407_147099.01255.0DomainSAM
TgeneSHANK2chr7:137686350chr11:70349036ENST00000449833110147_20699.01255.0DomainSH3
TgeneSHANK2chr7:137686350chr11:70349036ENST00000449833110247_34199.01255.0DomainPDZ
TgeneSHANK2chr7:137686350chr11:70349036ENST00000423696616948_954308.01471.0MotifSH3-binding
TgeneSHANK2chr7:137686350chr11:70349036ENST00000449833110948_95499.01255.0MotifSH3-binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000330387-112294_35734.0521.0DomainbZIP
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000452463-14294_35734.0249.0DomainbZIP
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000456390-110294_35734.0461.0DomainbZIP
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000330387-112427_43034.0521.0MotifS1P recognition
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000452463-14427_43034.0249.0MotifS1P recognition
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000456390-110427_43034.0461.0MotifS1P recognition
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000330387-112296_32534.0521.0RegionBasic motif
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000330387-112336_35734.0521.0RegionLeucine-zipper
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000452463-14296_32534.0249.0RegionBasic motif
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000452463-14336_35734.0249.0RegionLeucine-zipper
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000456390-110296_32534.0461.0RegionBasic motif
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000456390-110336_35734.0461.0RegionLeucine-zipper
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000330387-1121_37934.0521.0Topological domainCytoplasmic
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000330387-112401_52034.0521.0Topological domainLumenal
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000452463-141_37934.0249.0Topological domainCytoplasmic
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000452463-14401_52034.0249.0Topological domainLumenal
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000456390-1101_37934.0461.0Topological domainCytoplasmic
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000456390-110401_52034.0461.0Topological domainLumenal
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000330387-112380_40034.0521.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000452463-14380_40034.0249.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneCREB3L2chr7:137686350chr11:70349036ENST00000456390-110380_40034.0461.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneSHANK2chr7:137686350chr11:70349036ENST00000423696616147_206308.01471.0DomainSH3
TgeneSHANK2chr7:137686350chr11:70349036ENST00000423696616247_341308.01471.0DomainPDZ


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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
CREB3L2all structure
SHANK2


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 CREB3L2-SHANK2


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 CREB3L2-SHANK2


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