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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:ITM2B-RB1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITM2B-RB1
FusionPDB ID: 40625
FusionGDB2.0 ID: 40625
HgeneTgene
Gene symbol

ITM2B

RB1

Gene ID

9445

5925

Gene nameintegral membrane protein 2BRB transcriptional corepressor 1
SynonymsABRI|BRI|BRI2|BRICD2B|E25B|E3-16|FBD|RDGCA|imBRI2OSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110
Cytomap

13q14.2

13q14.2

Type of geneprotein-codingprotein-coding
Descriptionintegral membrane protein 2BABri/ADan amyloid peptideBRICHOS domain containing 2Bepididymis secretory sperm binding proteinimmature BRI2transmembrane protein BRIretinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblas
Modification date2020031320200329
UniProtAcc

Q9Y287

RB1CC1

Ensembl transtripts involved in fusion geneENST idsENST00000378549, ENST00000378565, 
ENST00000484879, ENST00000267163, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 11 X 13=200213 X 16 X 11=2288
# samples 2627
** MAII scorelog2(26/2002*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/2288*10)=-3.08305573972756
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ITM2B [Title/Abstract] AND RB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RB1(48881542)-ITM2B(48827944), # samples:6
ITM2B(48830519)-RB1(49027129), # samples:2
Anticipated loss of major functional domain due to fusion event.ITM2B-RB1 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.
ITM2B-RB1 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.
ITM2B-RB1 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.
ITM2B-RB1 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.
RB1-ITM2B 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.
RB1-ITM2B 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.
ITM2B-RB1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
ITM2B-RB1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ITM2B-RB1 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
HgeneITM2B

GO:0042985

negative regulation of amyloid precursor protein biosynthetic process

16027166|18524908

TgeneRB1

GO:0043550

regulation of lipid kinase activity

16286473

TgeneRB1

GO:0045892

negative regulation of transcription, DNA-templated

10783144|12065415|19223331

TgeneRB1

GO:2000679

positive regulation of transcription regulatory region DNA binding

25100735


check buttonFusion gene breakpoints across ITM2B (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 RB1 (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-AN-A0FX-01AITM2Bchr13

48833083

+RB1chr13

49037867

+
ChimerDB4BRCATCGA-AN-A0FXITM2Bchr13

48833083

+RB1chr13

49037866

+
ChimerDB4GBMTCGA-19-1389-02AITM2Bchr13

48830519

+RB1chr13

49027129

+
ChimerDB4HNSCTCGA-HD-7832ITM2Bchr13

48828072

+RB1chr13

48916734

+
ChimerDB4LUSCTCGA-56-8307-01AITM2Bchr13

48828071

+RB1chr13

49027128

+
ChimerDB4LUSCTCGA-56-8307ITM2Bchr13

48828072

+RB1chr13

49027128

+
ChimerDB4LUSCTCGA-56-8307ITM2Bchr13

48828072

+RB1chr13

49027129

+
ChimerDB4LUSCTCGA-56-8307ITM2Bchr13

48830519

+RB1chr13

49027128

+
ChimerDB4LUSCTCGA-56-8307ITM2Bchr13

48830519

+RB1chr13

49027129

+
ChimerDB4OVTCGA-29-1777-01AITM2Bchr13

48807613

+RB1chr13

48934153

+
ChimerDB4OVTCGA-61-2109-01AITM2Bchr13

48807613

+RB1chr13

48916735

+
ChimerDB4OVTCGA-61-2109ITM2Bchr13

48807613

+RB1chr13

48916734

+
ChimerDB4SARCTCGA-DX-A6YU-01AITM2Bchr13

48807612

+RB1chr13

49051490

+
ChimerDB4SARCTCGA-DX-A6YUITM2Bchr13

48807613

+RB1chr13

49051490

+
ChimerDB4UCSTCGA-N6-A4VEITM2Bchr13

48807613

+RB1chr13

48947541

+


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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)
ENST00000378565ITM2Bchr1348828072+ENST00000267163RB1chr1349027128+3456449591540493
ENST00000378549ITM2Bchr1348828072+ENST00000267163RB1chr1349027128+3411404141495493
ENST00000378565ITM2Bchr1348830519+ENST00000267163RB1chr1349027128+3663656591747562
ENST00000378565ITM2Bchr1348807613+ENST00000267163RB1chr1348916734+4758320592842927
ENST00000378549ITM2Bchr1348807613+ENST00000267163RB1chr1348916734+4713275142797927
ENST00000378565ITM2Bchr1348830519+ENST00000267163RB1chr1349027129+3663656591747562
ENST00000378565ITM2Bchr1348828072+ENST00000267163RB1chr1349027129+3456449591540493
ENST00000378549ITM2Bchr1348828072+ENST00000267163RB1chr1349027129+3411404141495493
ENST00000378565ITM2Bchr1348807613+ENST00000267163RB1chr1348916735+4758320592842927
ENST00000378549ITM2Bchr1348807613+ENST00000267163RB1chr1348916735+4713275142797927
ENST00000378565ITM2Bchr1348828071+ENST00000267163RB1chr1349027128+3456449591540493
ENST00000378549ITM2Bchr1348828071+ENST00000267163RB1chr1349027128+3411404141495493

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
ENST00000378565ENST00000267163ITM2Bchr1348828072+RB1chr1349027128+0.0002836380.99971634
ENST00000378549ENST00000267163ITM2Bchr1348828072+RB1chr1349027128+0.0002653030.9997347
ENST00000378565ENST00000267163ITM2Bchr1348830519+RB1chr1349027128+0.0002059040.99979407
ENST00000378565ENST00000267163ITM2Bchr1348807613+RB1chr1348916734+7.78E-050.99992216
ENST00000378549ENST00000267163ITM2Bchr1348807613+RB1chr1348916734+7.66E-050.99992335
ENST00000378565ENST00000267163ITM2Bchr1348830519+RB1chr1349027129+0.0002059040.99979407
ENST00000378565ENST00000267163ITM2Bchr1348828072+RB1chr1349027129+0.0002836380.99971634
ENST00000378549ENST00000267163ITM2Bchr1348828072+RB1chr1349027129+0.0002653030.9997347
ENST00000378565ENST00000267163ITM2Bchr1348807613+RB1chr1348916735+7.78E-050.99992216
ENST00000378549ENST00000267163ITM2Bchr1348807613+RB1chr1348916735+7.66E-050.99992335
ENST00000378565ENST00000267163ITM2Bchr1348828071+RB1chr1349027128+0.0002836380.99971634
ENST00000378549ENST00000267163ITM2Bchr1348828071+RB1chr1349027128+0.0002653030.9997347

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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

>40625_40625_1_ITM2B-RB1_ITM2B_chr13_48807613_ENST00000378549_RB1_chr13_48916734_ENST00000267163_length(amino acids)=927AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKGGY
IQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSI
STEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDT
RIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSN
LDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVR
LYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGN
LTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQ
ATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKF
KIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKS
PYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKL

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

>40625_40625_2_ITM2B-RB1_ITM2B_chr13_48807613_ENST00000378549_RB1_chr13_48916735_ENST00000267163_length(amino acids)=927AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKGGY
IQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSI
STEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDT
RIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSN
LDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVR
LYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGN
LTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQ
ATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKF
KIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKS
PYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKL

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

>40625_40625_3_ITM2B-RB1_ITM2B_chr13_48807613_ENST00000378565_RB1_chr13_48916734_ENST00000267163_length(amino acids)=927AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKGGY
IQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSI
STEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDT
RIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSN
LDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVR
LYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGN
LTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQ
ATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKF
KIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKS
PYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKL

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

>40625_40625_4_ITM2B-RB1_ITM2B_chr13_48807613_ENST00000378565_RB1_chr13_48916735_ENST00000267163_length(amino acids)=927AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKGGY
IQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSI
STEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDT
RIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSN
LDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVR
LYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGN
LTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQ
ATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKF
KIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKS
PYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKL

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

>40625_40625_5_ITM2B-RB1_ITM2B_chr13_48828071_ENST00000378549_RB1_chr13_49027128_ENST00000267163_length(amino acids)=493AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPD
DVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKK
KGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMM
CSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSS
PLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEA

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

>40625_40625_6_ITM2B-RB1_ITM2B_chr13_48828071_ENST00000378565_RB1_chr13_49027128_ENST00000267163_length(amino acids)=493AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPD
DVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKK
KGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMM
CSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSS
PLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEA

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

>40625_40625_7_ITM2B-RB1_ITM2B_chr13_48828072_ENST00000378549_RB1_chr13_49027128_ENST00000267163_length(amino acids)=493AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPD
DVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKK
KGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMM
CSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSS
PLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEA

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

>40625_40625_8_ITM2B-RB1_ITM2B_chr13_48828072_ENST00000378549_RB1_chr13_49027129_ENST00000267163_length(amino acids)=493AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPD
DVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKK
KGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMM
CSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSS
PLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEA

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

>40625_40625_9_ITM2B-RB1_ITM2B_chr13_48828072_ENST00000378565_RB1_chr13_49027128_ENST00000267163_length(amino acids)=493AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPD
DVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKK
KGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMM
CSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSS
PLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEA

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

>40625_40625_10_ITM2B-RB1_ITM2B_chr13_48828072_ENST00000378565_RB1_chr13_49027129_ENST00000267163_length(amino acids)=493AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPD
DVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKK
KGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMM
CSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSS
PLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEA

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

>40625_40625_11_ITM2B-RB1_ITM2B_chr13_48830519_ENST00000378565_RB1_chr13_49027128_ENST00000267163_length(amino acids)=562AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPD
DVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVILNEPSADAPAALYQTIEENIKIFEEEEVEFISV
PVPEFADSDPANIVHDFNKDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAF
QTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVT
AYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKIS
EGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMTS

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

>40625_40625_12_ITM2B-RB1_ITM2B_chr13_48830519_ENST00000378565_RB1_chr13_49027129_ENST00000267163_length(amino acids)=562AA_BP=1
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPD
DVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVILNEPSADAPAALYQTIEENIKIFEEEEVEFISV
PVPEFADSDPANIVHDFNKDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAF
QTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVT
AYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKIS
EGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMTS

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

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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/chr13:48881542/chr13:48827944)
- 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
ITM2B

Q9Y287

RB1

RB1CC1

FUNCTION: Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites.; FUNCTION: Mature BRI2 (mBRI2) functions as a modulator of the amyloid-beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42.; FUNCTION: Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers.1594

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
HgeneITM2Bchr13:48828071chr13:49027128ENST00000378565+261_5482.0267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48828072chr13:48916734ENST00000378565+261_5482.0267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48828072chr13:49027128ENST00000378565+261_5482.0267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48828072chr13:49027129ENST00000378565+261_5482.0267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48830519chr13:49027128ENST00000378565+361_54151.0267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48830519chr13:49027129ENST00000378565+361_54151.0267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48828071chr13:49027128ENST00000378565+2655_7582.0267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneITM2Bchr13:48828072chr13:48916734ENST00000378565+2655_7582.0267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneITM2Bchr13:48828072chr13:49027128ENST00000378565+2655_7582.0267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneITM2Bchr13:48828072chr13:49027129ENST00000378565+2655_7582.0267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneITM2Bchr13:48830519chr13:49027128ENST00000378565+3655_75151.0267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneITM2Bchr13:48830519chr13:49027129ENST00000378565+3655_75151.0267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneRB1chr13:48807613chr13:48916734ENST00000267163127860_87688.0929.0MotifBipartite nuclear localization signal
TgeneRB1chr13:48807613chr13:48916735ENST00000267163127860_87688.0929.0MotifBipartite nuclear localization signal
TgeneRB1chr13:48828071chr13:49027128ENST000002671631627860_876565.0929.0MotifBipartite nuclear localization signal
TgeneRB1chr13:48828072chr13:48916734ENST00000267163127860_87688.0929.0MotifBipartite nuclear localization signal
TgeneRB1chr13:48828072chr13:49027128ENST000002671631627860_876565.0929.0MotifBipartite nuclear localization signal
TgeneRB1chr13:48828072chr13:49027129ENST000002671631627860_876565.0929.0MotifBipartite nuclear localization signal
TgeneRB1chr13:48830519chr13:49027128ENST000002671631627860_876565.0929.0MotifBipartite nuclear localization signal
TgeneRB1chr13:48830519chr13:49027129ENST000002671631627860_876565.0929.0MotifBipartite nuclear localization signal
TgeneRB1chr13:48807613chr13:48916734ENST00000267163127373_57988.0929.0RegionNote=Domain A
TgeneRB1chr13:48807613chr13:48916734ENST00000267163127373_77188.0929.0RegionNote=Pocket%3B binds T and E1A
TgeneRB1chr13:48807613chr13:48916734ENST00000267163127580_63988.0929.0RegionNote=Spacer
TgeneRB1chr13:48807613chr13:48916734ENST00000267163127640_77188.0929.0RegionNote=Domain B
TgeneRB1chr13:48807613chr13:48916735ENST00000267163127373_57988.0929.0RegionNote=Domain A
TgeneRB1chr13:48807613chr13:48916735ENST00000267163127373_77188.0929.0RegionNote=Pocket%3B binds T and E1A
TgeneRB1chr13:48807613chr13:48916735ENST00000267163127580_63988.0929.0RegionNote=Spacer
TgeneRB1chr13:48807613chr13:48916735ENST00000267163127640_77188.0929.0RegionNote=Domain B
TgeneRB1chr13:48828071chr13:49027128ENST000002671631627580_639565.0929.0RegionNote=Spacer
TgeneRB1chr13:48828071chr13:49027128ENST000002671631627640_771565.0929.0RegionNote=Domain B
TgeneRB1chr13:48828072chr13:48916734ENST00000267163127373_57988.0929.0RegionNote=Domain A
TgeneRB1chr13:48828072chr13:48916734ENST00000267163127373_77188.0929.0RegionNote=Pocket%3B binds T and E1A
TgeneRB1chr13:48828072chr13:48916734ENST00000267163127580_63988.0929.0RegionNote=Spacer
TgeneRB1chr13:48828072chr13:48916734ENST00000267163127640_77188.0929.0RegionNote=Domain B
TgeneRB1chr13:48828072chr13:49027128ENST000002671631627580_639565.0929.0RegionNote=Spacer
TgeneRB1chr13:48828072chr13:49027128ENST000002671631627640_771565.0929.0RegionNote=Domain B
TgeneRB1chr13:48828072chr13:49027129ENST000002671631627580_639565.0929.0RegionNote=Spacer
TgeneRB1chr13:48828072chr13:49027129ENST000002671631627640_771565.0929.0RegionNote=Domain B
TgeneRB1chr13:48830519chr13:49027128ENST000002671631627580_639565.0929.0RegionNote=Spacer
TgeneRB1chr13:48830519chr13:49027128ENST000002671631627640_771565.0929.0RegionNote=Domain B
TgeneRB1chr13:48830519chr13:49027129ENST000002671631627580_639565.0929.0RegionNote=Spacer
TgeneRB1chr13:48830519chr13:49027129ENST000002671631627640_771565.0929.0RegionNote=Domain B

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITM2Bchr13:48807613chr13:48916734ENST00000378565+16137_23139.0267.0DomainBRICHOS
HgeneITM2Bchr13:48807613chr13:48916735ENST00000378565+16137_23139.0267.0DomainBRICHOS
HgeneITM2Bchr13:48828071chr13:49027128ENST00000378565+26137_23182.0267.0DomainBRICHOS
HgeneITM2Bchr13:48828072chr13:48916734ENST00000378565+26137_23182.0267.0DomainBRICHOS
HgeneITM2Bchr13:48828072chr13:49027128ENST00000378565+26137_23182.0267.0DomainBRICHOS
HgeneITM2Bchr13:48828072chr13:49027129ENST00000378565+26137_23182.0267.0DomainBRICHOS
HgeneITM2Bchr13:48830519chr13:49027128ENST00000378565+36137_231151.0267.0DomainBRICHOS
HgeneITM2Bchr13:48830519chr13:49027129ENST00000378565+36137_231151.0267.0DomainBRICHOS
HgeneITM2Bchr13:48807613chr13:48916734ENST00000378565+161_5439.0267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48807613chr13:48916734ENST00000378565+1676_26639.0267.0Topological domainLumenal
HgeneITM2Bchr13:48807613chr13:48916735ENST00000378565+161_5439.0267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48807613chr13:48916735ENST00000378565+1676_26639.0267.0Topological domainLumenal
HgeneITM2Bchr13:48828071chr13:49027128ENST00000378565+2676_26682.0267.0Topological domainLumenal
HgeneITM2Bchr13:48828072chr13:48916734ENST00000378565+2676_26682.0267.0Topological domainLumenal
HgeneITM2Bchr13:48828072chr13:49027128ENST00000378565+2676_26682.0267.0Topological domainLumenal
HgeneITM2Bchr13:48828072chr13:49027129ENST00000378565+2676_26682.0267.0Topological domainLumenal
HgeneITM2Bchr13:48830519chr13:49027128ENST00000378565+3676_266151.0267.0Topological domainLumenal
HgeneITM2Bchr13:48830519chr13:49027129ENST00000378565+3676_266151.0267.0Topological domainLumenal
HgeneITM2Bchr13:48807613chr13:48916734ENST00000378565+1655_7539.0267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneITM2Bchr13:48807613chr13:48916735ENST00000378565+1655_7539.0267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneRB1chr13:48807613chr13:48916734ENST0000026716312710_1888.0929.0Compositional biasNote=Poly-Ala
TgeneRB1chr13:48807613chr13:48916734ENST0000026716312720_2988.0929.0Compositional biasNote=Poly-Pro
TgeneRB1chr13:48807613chr13:48916735ENST0000026716312710_1888.0929.0Compositional biasNote=Poly-Ala
TgeneRB1chr13:48807613chr13:48916735ENST0000026716312720_2988.0929.0Compositional biasNote=Poly-Pro
TgeneRB1chr13:48828071chr13:49027128ENST00000267163162710_18565.0929.0Compositional biasNote=Poly-Ala
TgeneRB1chr13:48828071chr13:49027128ENST00000267163162720_29565.0929.0Compositional biasNote=Poly-Pro
TgeneRB1chr13:48828072chr13:48916734ENST0000026716312710_1888.0929.0Compositional biasNote=Poly-Ala
TgeneRB1chr13:48828072chr13:48916734ENST0000026716312720_2988.0929.0Compositional biasNote=Poly-Pro
TgeneRB1chr13:48828072chr13:49027128ENST00000267163162710_18565.0929.0Compositional biasNote=Poly-Ala
TgeneRB1chr13:48828072chr13:49027128ENST00000267163162720_29565.0929.0Compositional biasNote=Poly-Pro
TgeneRB1chr13:48828072chr13:49027129ENST00000267163162710_18565.0929.0Compositional biasNote=Poly-Ala
TgeneRB1chr13:48828072chr13:49027129ENST00000267163162720_29565.0929.0Compositional biasNote=Poly-Pro
TgeneRB1chr13:48830519chr13:49027128ENST00000267163162710_18565.0929.0Compositional biasNote=Poly-Ala
TgeneRB1chr13:48830519chr13:49027128ENST00000267163162720_29565.0929.0Compositional biasNote=Poly-Pro
TgeneRB1chr13:48830519chr13:49027129ENST00000267163162710_18565.0929.0Compositional biasNote=Poly-Ala
TgeneRB1chr13:48830519chr13:49027129ENST00000267163162720_29565.0929.0Compositional biasNote=Poly-Pro
TgeneRB1chr13:48828071chr13:49027128ENST000002671631627373_579565.0929.0RegionNote=Domain A
TgeneRB1chr13:48828071chr13:49027128ENST000002671631627373_771565.0929.0RegionNote=Pocket%3B binds T and E1A
TgeneRB1chr13:48828072chr13:49027128ENST000002671631627373_579565.0929.0RegionNote=Domain A
TgeneRB1chr13:48828072chr13:49027128ENST000002671631627373_771565.0929.0RegionNote=Pocket%3B binds T and E1A
TgeneRB1chr13:48828072chr13:49027129ENST000002671631627373_579565.0929.0RegionNote=Domain A
TgeneRB1chr13:48828072chr13:49027129ENST000002671631627373_771565.0929.0RegionNote=Pocket%3B binds T and E1A
TgeneRB1chr13:48830519chr13:49027128ENST000002671631627373_579565.0929.0RegionNote=Domain A
TgeneRB1chr13:48830519chr13:49027128ENST000002671631627373_771565.0929.0RegionNote=Pocket%3B binds T and E1A
TgeneRB1chr13:48830519chr13:49027129ENST000002671631627373_579565.0929.0RegionNote=Domain A
TgeneRB1chr13:48830519chr13:49027129ENST000002671631627373_771565.0929.0RegionNote=Pocket%3B binds T and E1A


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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 >>>1205_ITM2B_48830519_RB1_49027129_1205_ITM2B_48830519_RB1_49027129_ranked_0.pdbITM2B4882807148830519ENST00000267163RB1chr1349027129+
MPPRSFPNLFSRPEPLPEPGRRGCNRSREPAARAPSPPPPFEGAPGRAMVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPD
DVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVILNEPSADAPAALYQTIEENIKIFEEEEVEFISV
PVPEFADSDPANIVHDFNKDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAF
QTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVT
AYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKIS
EGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMTS
562


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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.
ITM2B_pLDDT.png
all structure
all structure
RB1_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
ITM2B
RB1


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 ITM2B-RB1


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 ITM2B-RB1


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