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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:ITPR1-BHLHE40

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITPR1-BHLHE40
FusionPDB ID: 40677
FusionGDB2.0 ID: 40677
HgeneTgene
Gene symbol

ITPR1

BHLHE40

Gene ID

3708

8553

Gene nameinositol 1,4,5-trisphosphate receptor type 1basic helix-loop-helix family member e40
SynonymsACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29BHLHB2|Clast5|DEC1|HLHB2|SHARP-2|SHARP2|STRA13|Stra14
Cytomap

3p26.1

3p26.1

Type of geneprotein-codingprotein-coding
Descriptioninositol 1,4,5-trisphosphate receptor type 1IP3 receptorIP3R 1inositol 1,4,5-triphosphate receptor, type 1protein phosphatase 1, regulatory subunit 94type 1 InsP3 receptortype 1 inositol 1,4,5-trisphosphate receptorclass E basic helix-loop-helix protein 40basic helix-loop-helix domain containing, class B, 2class B basic helix-loop-helix protein 2differentially expressed in chondrocytes 1differentially expressed in chondrocytes protein 1differentiated embryo cho
Modification date2020032720200327
UniProtAcc

Q14643

O14503

Ensembl transtripts involved in fusion geneENST idsENST00000302640, ENST00000354582, 
ENST00000357086, ENST00000423119, 
ENST00000443694, ENST00000456211, 
ENST00000463980, ENST00000544951, 
ENST00000256495, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 15 X 8=16803 X 4 X 3=36
# samples 164
** MAII scorelog2(16/1680*10)=-3.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ITPR1 [Title/Abstract] AND BHLHE40 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ITPR1(4704890)-BHLHE40(5023077), # samples:2
ITPR1(4808394)-BHLHE40(5024521), # samples:2
Anticipated loss of major functional domain due to fusion event.ITPR1-BHLHE40 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.
ITPR1-BHLHE40 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.
ITPR1-BHLHE40 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.
ITPR1-BHLHE40 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
HgeneITPR1

GO:0001666

response to hypoxia

19120137

HgeneITPR1

GO:0050849

negative regulation of calcium-mediated signaling

16793548

TgeneBHLHE40

GO:0000122

negative regulation of transcription by RNA polymerase II

12397359|12624110|14672706|15193144

TgeneBHLHE40

GO:0007623

circadian rhythm

28797635

TgeneBHLHE40

GO:0032922

circadian regulation of gene expression

18411297

TgeneBHLHE40

GO:0043433

negative regulation of DNA-binding transcription factor activity

18411297

TgeneBHLHE40

GO:0045892

negative regulation of transcription, DNA-templated

12397359|30012868


check buttonFusion gene breakpoints across ITPR1 (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 BHLHE40 (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
ChimerDB4LGGTCGA-DU-A7TA-01AITPR1chr3

4704890

+BHLHE40chr3

5023077

+
ChimerDB4LGGTCGA-DU-A7TAITPR1chr3

4704890

+BHLHE40chr3

5023077

+
ChimerDB4UCECTCGA-D1-A3DH-01AITPR1chr3

4808394

+BHLHE40chr3

5024521

+


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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)
ENST00000302640ITPR1chr34704890+ENST00000256495BHLHE40chr35023077+447118593052839844
ENST00000354582ITPR1chr34704890+ENST00000256495BHLHE40chr35023077+451619043052884859
ENST00000423119ITPR1chr34704890+ENST00000256495BHLHE40chr35023077+451619043052884859
ENST00000456211ITPR1chr34704890+ENST00000256495BHLHE40chr35023077+446918573032837844
ENST00000357086ITPR1chr34704890+ENST00000256495BHLHE40chr35023077+451419023032882859
ENST00000443694ITPR1chr34704890+ENST00000256495BHLHE40chr35023077+4121150902489829
ENST00000302640ITPR1chr34808394+ENST00000256495BHLHE40chr35024521+8518603030568862193
ENST00000354582ITPR1chr34808394+ENST00000256495BHLHE40chr35024521+8518603030568862193
ENST00000423119ITPR1chr34808394+ENST00000256495BHLHE40chr35024521+8419593130567872160
ENST00000456211ITPR1chr34808394+ENST00000256495BHLHE40chr35024521+8372588430367402145
ENST00000357086ITPR1chr34808394+ENST00000256495BHLHE40chr35024521+8417592930367852160
ENST00000443694ITPR1chr34808394+ENST00000256495BHLHE40chr35024521+81685680065362178

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
ENST00000302640ENST00000256495ITPR1chr34704890+BHLHE40chr35023077+0.0005629890.99943703
ENST00000354582ENST00000256495ITPR1chr34704890+BHLHE40chr35023077+0.0004222850.9995777
ENST00000423119ENST00000256495ITPR1chr34704890+BHLHE40chr35023077+0.0004222850.9995777
ENST00000456211ENST00000256495ITPR1chr34704890+BHLHE40chr35023077+0.0005505470.99944943
ENST00000357086ENST00000256495ITPR1chr34704890+BHLHE40chr35023077+0.0004127420.99958724
ENST00000443694ENST00000256495ITPR1chr34704890+BHLHE40chr35023077+0.0005378780.9994622
ENST00000302640ENST00000256495ITPR1chr34808394+BHLHE40chr35024521+0.0014133690.99858665
ENST00000354582ENST00000256495ITPR1chr34808394+BHLHE40chr35024521+0.0013504670.99864954
ENST00000423119ENST00000256495ITPR1chr34808394+BHLHE40chr35024521+0.001540080.99845994
ENST00000456211ENST00000256495ITPR1chr34808394+BHLHE40chr35024521+0.0014767180.9985233
ENST00000357086ENST00000256495ITPR1chr34808394+BHLHE40chr35024521+0.001524980.998475
ENST00000443694ENST00000256495ITPR1chr34808394+BHLHE40chr35024521+0.0010509220.9989491

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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

>40677_40677_1_ITPR1-BHLHE40_ITPR1_chr3_4704890_ENST00000302640_BHLHE40_chr3_5023077_ENST00000256495_length(amino acids)=844AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDQDASRSRLRNAQEKMVYSLVSVPE
GNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPVSPAEVRDLDFANDAS
KVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQTLGHLEKAVVLELTLKHVKALT
NLIDQQQQKIIALQSGLQAGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKV
MDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTK
KNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPLLMP

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

>40677_40677_2_ITPR1-BHLHE40_ITPR1_chr3_4704890_ENST00000354582_BHLHE40_chr3_5023077_ENST00000256495_length(amino acids)=859AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLR
NAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPV
SPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQTLGHLEK
AVVLELTLKHVKALTNLIDQQQQKIIALQSGLQAGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELL
QGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGE
RIGAIKQESEEPPTKKNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALS

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

>40677_40677_3_ITPR1-BHLHE40_ITPR1_chr3_4704890_ENST00000357086_BHLHE40_chr3_5023077_ENST00000256495_length(amino acids)=859AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLR
NAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPV
SPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQTLGHLEK
AVVLELTLKHVKALTNLIDQQQQKIIALQSGLQAGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELL
QGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGE
RIGAIKQESEEPPTKKNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALS

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

>40677_40677_4_ITPR1-BHLHE40_ITPR1_chr3_4704890_ENST00000423119_BHLHE40_chr3_5023077_ENST00000256495_length(amino acids)=859AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLR
NAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPV
SPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQTLGHLEK
AVVLELTLKHVKALTNLIDQQQQKIIALQSGLQAGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELL
QGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGE
RIGAIKQESEEPPTKKNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALS

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

>40677_40677_5_ITPR1-BHLHE40_ITPR1_chr3_4704890_ENST00000443694_BHLHE40_chr3_5023077_ENST00000256495_length(amino acids)=829AA_BP=0
MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKAAKPGANSTTDAVLLN
KLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGD
KVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDEHRKKQHVFLRTTGRQ
SATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDQDASRSRLRNAQEKMVYSLVSVPEGNDISSIFELDPTTL
RGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTI
TQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQTLGHLEKAVVLELTLKHVKALTNLIDQQQQKIIALQS
GLQAGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKVMDFKEKPSSPAKGSE
GPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKKNRMQLSDDEGHFTS
SDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPLLMPQRLPSPLPAHPSVDS

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

>40677_40677_6_ITPR1-BHLHE40_ITPR1_chr3_4704890_ENST00000456211_BHLHE40_chr3_5023077_ENST00000256495_length(amino acids)=844AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDQDASRSRLRNAQEKMVYSLVSVPE
GNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPVSPAEVRDLDFANDAS
KVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQTLGHLEKAVVLELTLKHVKALT
NLIDQQQQKIIALQSGLQAGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKV
MDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTK
KNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPLLMP

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

>40677_40677_7_ITPR1-BHLHE40_ITPR1_chr3_4808394_ENST00000302640_BHLHE40_chr3_5024521_ENST00000256495_length(amino acids)=2193AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDQDASRSRLRNAQEKMVYSLVSVPE
GNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPVSPAEVRDLDFANDAS
KVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEE
LGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEIDTFVSLVRKNREPRF
LDYLSDLCVSMNKSIPVTQELICKAVLNPTNADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDA
KEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDPQEQVTPVKYARLWSE
IPSEIAIDDYDSSGASKDEIKERFAQTMEFVEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVH
VTTIFPISKMAKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDIMVMDTKLKIIEILQF
ILNVRLDYRISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMH
DYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDGASGENEHKKTEEGNN
KPQKHESTSSYNYRVVKEILIRLSKLCVQESASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQ
NQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKKCQDMVMAELVNSGED
VLVFYNDRASFQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCY
VDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQPVFVQLLQGVFRVYH
CNWLMPSQKASVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSAL
EDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKLCIKVLQTLREMMTKDRGYGEKLISIDELDN
AELPPAPDSENATEELEPSPPLRQLEDHKRGEALRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSL
AEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDL
GNKKKDDEVDRDAPSRKKGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKVM
DFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKK
NRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPLLMPQ

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

>40677_40677_8_ITPR1-BHLHE40_ITPR1_chr3_4808394_ENST00000354582_BHLHE40_chr3_5024521_ENST00000256495_length(amino acids)=2193AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLR
NAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPV
SPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQA
PFTDCGDGPMLRLEELGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEI
DTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPTNADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSN
KEIRSKSVRELAQDAKEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDP
QEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEFVEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDL
LRLTKILLAILDCVHVTTIFPISKMAKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDI
MVMDTKLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDH
GGRTFLRVLLHLTMHDYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDG
ASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQESASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMR
LAHEFLQNFCAGNQQNQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKK
CQDMVMAELVNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCI
PEVKIAYINFLNHCYVDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQ
PVFVQLLQGVFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRD
YRNIIERLQDIVSALEDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKLCIKVLQTLREMMTKD
RGYGEKLISIDELDNAELPPAPDSENATEKGEALRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSL
AEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDL
GNKKKDDEVDRDAPSRKKGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKVM
DFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKK
NRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPLLMPQ

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

>40677_40677_9_ITPR1-BHLHE40_ITPR1_chr3_4808394_ENST00000357086_BHLHE40_chr3_5024521_ENST00000256495_length(amino acids)=2160AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLR
NAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPV
SPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQA
PFTDCGDGPMLRLEELGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEI
DTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPTNADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSN
KEIRSKSVRELAQDAKEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDP
QEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEFVEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDL
LRLTKILLAILDCVHVTTIFPISKMAKGEENKGSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDIMVMDTKLKI
IEILQFILNVRLDYRISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVL
LHLTMHDYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDGASGENEHKK
TEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQESASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNF
CAGNQQNQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKKCQDMVMAEL
VNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYIN
FLNHCYVDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQPVFVQLLQG
VFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQ
DIVSALEDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKLCIKVLQTLREMMTKDRGYGEKGEA
LRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSLAEVQCHLDKEGASNLVIDLIMNASSDRVFHESI
LLAIALLEGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKGELSGRNVETGQEMF
CSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSG
EQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKKNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFC
LPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPLLMPQRLPSPLPAHPSVDSSVLLQALKPIPPLNLETKD

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

>40677_40677_10_ITPR1-BHLHE40_ITPR1_chr3_4808394_ENST00000423119_BHLHE40_chr3_5024521_ENST00000256495_length(amino acids)=2160AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLR
NAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPV
SPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQA
PFTDCGDGPMLRLEELGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEI
DTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPTNADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSN
KEIRSKSVRELAQDAKEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDP
QEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEFVEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDL
LRLTKILLAILDCVHVTTIFPISKMAKGEENKGSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDIMVMDTKLKI
IEILQFILNVRLDYRISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGRKENTPLDLDDHGGRTFLRVL
LHLTMHDYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDGASGENEHKK
TEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQESASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNF
CAGNQQNQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKKCQDMVMAEL
VNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYIN
FLNHCYVDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQPVFVQLLQG
VFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQ
DIVSALEDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKLCIKVLQTLREMMTKDRGYGEKGEA
LRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSLAEVQCHLDKEGASNLVIDLIMNASSDRVFHESI
LLAIALLEGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKGELSGRNVETGQEMF
CSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSG
EQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKKNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFC
LPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPLLMPQRLPSPLPAHPSVDSSVLLQALKPIPPLNLETKD

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

>40677_40677_11_ITPR1-BHLHE40_ITPR1_chr3_4808394_ENST00000443694_BHLHE40_chr3_5024521_ENST00000256495_length(amino acids)=2178AA_BP=0
MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKAAKPGANSTTDAVLLN
KLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGD
KVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDEHRKKQHVFLRTTGRQ
SATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDQDASRSRLRNAQEKMVYSLVSVPEGNDISSIFELDPTTL
RGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTI
TQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEELGDQRHAPFRHICRL
CYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEIDTFVSLVRKNREPRFLDYLSDLCVSMNKSI
PVTQELICKAVLNPTNADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDAKEGQKEDRDVLSYYR
YQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDPQEQVTPVKYARLWSEIPSEIAIDDYDSSGA
SKDEIKERFAQTMEFVEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVHVTTIFPISKMAKGEE
NKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDIMVMDTKLKIIEILQFILNVRLDYRISCLLC
IFKREFDESNSQTSETSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMHDYPPLVSGALQLLFR
HFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTSSYNYRV
VKEILIRLSKLCVQESASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQNQALLHKHINLFLNP
GILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKKCQDMVMAELVNSGEDVLVFYNDRASFQTLI
QMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCYVDTEVEMKEIYTSNH
MWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQPVFVQLLQGVFRVYHCNWLMPSQKASVESC
IRVLSDVAKSRAIAIPVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSALEDRLRPLVQAELSVL
VDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKLCIKVLQTLREMMTKDRGYGEKLISIDELDNAELPPAPDSENATEE
LEPSPPLRQLEDHKRGEALRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSLAEVQCHLDKEGASNL
VIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPS
RKKGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKVMDFKEKPSSPAKGSEG
PGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKKNRMQLSDDEGHFTSS
DLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPLLMPQRLPSPLPAHPSVDSS

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

>40677_40677_12_ITPR1-BHLHE40_ITPR1_chr3_4808394_ENST00000456211_BHLHE40_chr3_5024521_ENST00000256495_length(amino acids)=2145AA_BP=1
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDQDASRSRLRNAQEKMVYSLVSVPE
GNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPVSPAEVRDLDFANDAS
KVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEE
LGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEIDTFVSLVRKNREPRF
LDYLSDLCVSMNKSIPVTQELICKAVLNPTNADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDA
KEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDPQEQVTPVKYARLWSE
IPSEIAIDDYDSSGASKDEIKERFAQTMEFVEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVH
VTTIFPISKMAKGEENKGSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDIMVMDTKLKIIEILQFILNVRLDYR
ISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMHDYPPLVSGA
LQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTS
SYNYRVVKEILIRLSKLCVQESASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQNQALLHKHI
NLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKKCQDMVMAELVNSGEDVLVFYNDRA
SFQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCYVDTEVEMKE
IYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQPVFVQLLQGVFRVYHCNWLMPSQK
ASVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSALEDRLRPLVQ
AELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKLCIKVLQTLREMMTKDRGYGEKGEALRQVLVNRYYGNVRP
SGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSLAEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALLEGGNTTIQ
HSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKGELSGRNVETGQEMFCSGFQTCAREVLQYL
AKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGG
ESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKKNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLP

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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/chr3:4704890/chr3:5023077)
- 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
ITPR1

Q14643

BHLHE40

O14503

FUNCTION: Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed:27108797). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity). {ECO:0000250|UniProtKB:P11881, ECO:0000269|PubMed:27108797}.FUNCTION: Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:12397359, PubMed:18411297). Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop) (PubMed:14672706). Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2 (PubMed:15193144). Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes (PubMed:15560782). Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2 (PubMed:14672706). Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA and NR1H3/LXRA transactivation activity (PubMed:19786558). May be involved in the regulation of chondrocyte differentiation via the cAMP pathway (PubMed:19786558). Represses the transcription of NR0B2 and attentuates the transactivation of NR0B2 by the CLOCK-ARNTL/BMAL1 complex (PubMed:28797635). Drives the circadian rhythm of blood pressure through transcriptional repression of ATP1B1 in the cardiovascular system (PubMed:30012868). {ECO:0000269|PubMed:12397359, ECO:0000269|PubMed:14672706, ECO:0000269|PubMed:15193144, ECO:0000269|PubMed:15560782, ECO:0000269|PubMed:18411297, ECO:0000269|PubMed:19786558, ECO:0000269|PubMed:28797635, ECO:0000269|PubMed:30012868}.

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
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+1561112_166503.02744.0DomainMIR 1
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+1561173_223503.02744.0DomainMIR 2
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+1561231_287503.02744.0DomainMIR 3
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+1561294_373503.02744.0DomainMIR 4
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+1561379_435503.02744.0DomainMIR 5
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+1659112_166518.02711.0DomainMIR 1
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+1659173_223518.02711.0DomainMIR 2
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+1659231_287518.02711.0DomainMIR 3
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+1659294_373518.02711.0DomainMIR 4
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+1659379_435518.02711.0DomainMIR 5
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+1359112_166503.02744.0DomainMIR 1
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+1359173_223503.02744.0DomainMIR 2
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+1359231_287503.02744.0DomainMIR 3
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+1359294_373503.02744.0DomainMIR 4
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+1359379_435503.02744.0DomainMIR 5
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+1558112_166503.02696.0DomainMIR 1
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+1558173_223503.02696.0DomainMIR 2
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+1558231_287503.02696.0DomainMIR 3
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+1558294_373503.02696.0DomainMIR 4
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+1558379_435503.02696.0DomainMIR 5
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+4461112_1661893.33333333333332744.0DomainMIR 1
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+4461173_2231893.33333333333332744.0DomainMIR 2
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+4461231_2871893.33333333333332744.0DomainMIR 3
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+4461294_3731893.33333333333332744.0DomainMIR 4
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+4461379_4351893.33333333333332744.0DomainMIR 5
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+4259112_1661860.33333333333332711.0DomainMIR 1
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+4259173_2231860.33333333333332711.0DomainMIR 2
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+4259231_2871860.33333333333332711.0DomainMIR 3
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+4259294_3731860.33333333333332711.0DomainMIR 4
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+4259379_4351860.33333333333332711.0DomainMIR 5
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+4259112_1661893.33333333333332744.0DomainMIR 1
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+4259173_2231893.33333333333332744.0DomainMIR 2
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+4259231_2871893.33333333333332744.0DomainMIR 3
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+4259294_3731893.33333333333332744.0DomainMIR 4
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+4259379_4351893.33333333333332744.0DomainMIR 5
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+4158112_1661845.33333333333332696.0DomainMIR 1
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+4158173_2231845.33333333333332696.0DomainMIR 2
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+4158231_2871845.33333333333332696.0DomainMIR 3
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+4158294_3731845.33333333333332696.0DomainMIR 4
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+4158379_4351845.33333333333332696.0DomainMIR 5
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+1561265_269503.02744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+1659265_269518.02711.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+1659508_511518.02711.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+1359265_269503.02744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+1558265_269503.02696.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+4461265_2691893.33333333333332744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+4461508_5111893.33333333333332744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+4461567_5691893.33333333333332744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+4259265_2691860.33333333333332711.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+4259508_5111860.33333333333332711.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+4259567_5691860.33333333333332711.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+4259265_2691893.33333333333332744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+4259508_5111893.33333333333332744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+4259567_5691893.33333333333332744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+4158265_2691845.33333333333332696.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+4158508_5111845.33333333333332696.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+4158567_5691845.33333333333332696.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneBHLHE40chr3:4704890chr3:5023077ENST0000025649525142_17586.0413.0DomainOrange
TgeneBHLHE40chr3:4808394chr3:5024521ENST0000025649535142_175127.33333333333333413.0DomainOrange

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+1561508_511503.02744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+1561567_569503.02744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+1659567_569518.02711.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+1359508_511503.02744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+1359567_569503.02744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+1558508_511503.02696.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+1558567_569503.02696.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15611_2282503.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612304_2314503.02744.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612336_2361503.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612383_2405503.02744.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612427_2448503.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612470_2577503.02744.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612599_2758503.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16591_2282518.02711.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592304_2314518.02711.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592336_2361518.02711.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592383_2405518.02711.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592427_2448518.02711.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592470_2577518.02711.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592599_2758518.02711.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13591_2282503.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592304_2314503.02744.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592336_2361503.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592383_2405503.02744.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592427_2448503.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592470_2577503.02744.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592599_2758503.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15581_2282503.02696.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582304_2314503.02696.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582336_2361503.02696.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582383_2405503.02696.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582427_2448503.02696.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582470_2577503.02696.0Topological domainLumenal
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582599_2758503.02696.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44611_22821893.33333333333332744.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612304_23141893.33333333333332744.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612336_23611893.33333333333332744.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612383_24051893.33333333333332744.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612427_24481893.33333333333332744.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612470_25771893.33333333333332744.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612599_27581893.33333333333332744.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42591_22821860.33333333333332711.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592304_23141860.33333333333332711.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592336_23611860.33333333333332711.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592383_24051860.33333333333332711.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592427_24481860.33333333333332711.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592470_25771860.33333333333332711.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592599_27581860.33333333333332711.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42591_22821893.33333333333332744.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592304_23141893.33333333333332744.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592336_23611893.33333333333332744.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592383_24051893.33333333333332744.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592427_24481893.33333333333332744.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592470_25771893.33333333333332744.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592599_27581893.33333333333332744.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41581_22821845.33333333333332696.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582304_23141845.33333333333332696.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582336_23611845.33333333333332696.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582383_24051845.33333333333332696.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582427_24481845.33333333333332696.0Topological domainCytoplasmic
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582470_25771845.33333333333332696.0Topological domainLumenal
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582599_27581845.33333333333332696.0Topological domainCytoplasmic
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612283_2303503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612315_2335503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612362_2382503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612406_2426503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612449_2469503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612578_2598503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592283_2303518.02711.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592315_2335518.02711.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592362_2382518.02711.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592406_2426518.02711.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592449_2469518.02711.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592578_2598518.02711.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592283_2303503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592315_2335503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592362_2382503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592406_2426503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592449_2469503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592578_2598503.02744.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582283_2303503.02696.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582315_2335503.02696.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582362_2382503.02696.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582406_2426503.02696.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582449_2469503.02696.0TransmembraneHelical
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582578_2598503.02696.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612283_23031893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612315_23351893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612362_23821893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612406_24261893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612449_24691893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612578_25981893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592283_23031860.33333333333332711.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592315_23351860.33333333333332711.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592362_23821860.33333333333332711.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592406_24261860.33333333333332711.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592449_24691860.33333333333332711.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592578_25981860.33333333333332711.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592283_23031893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592315_23351893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592362_23821893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592406_24261893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592449_24691893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592578_25981893.33333333333332744.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582283_23031845.33333333333332696.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582315_23351845.33333333333332696.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582362_23821845.33333333333332696.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582406_24261845.33333333333332696.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582449_24691845.33333333333332696.0TransmembraneHelical
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582578_25981845.33333333333332696.0TransmembraneHelical
TgeneBHLHE40chr3:4704890chr3:5023077ENST000002564952552_10786.0413.0DomainbHLH
TgeneBHLHE40chr3:4808394chr3:5024521ENST000002564953552_107127.33333333333333413.0DomainbHLH


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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 >>>1646_ITPR1_4704890_BHLHE40_5023077_ranked_0.pdbITPR148083944704890ENST00000256495BHLHE40chr35023077+
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLR
NAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPV
SPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQTLGHLEK
AVVLELTLKHVKALTNLIDQQQQKIIALQSGLQAGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELL
QGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGE
RIGAIKQESEEPPTKKNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALS
859


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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.
ITPR1_pLDDT.png
all structure
all structure
BHLHE40_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
ITPR1
BHLHE40


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
HgeneITPR1chr3:4704890chr3:5023077ENST00000302640+15612472_2537503.02744.0ERP44
HgeneITPR1chr3:4704890chr3:5023077ENST00000357086+16592472_2537518.02711.0ERP44
HgeneITPR1chr3:4704890chr3:5023077ENST00000443694+13592472_2537503.02744.0ERP44
HgeneITPR1chr3:4704890chr3:5023077ENST00000456211+15582472_2537503.02696.0ERP44
HgeneITPR1chr3:4808394chr3:5024521ENST00000302640+44612472_25371893.33333333333332744.0ERP44
HgeneITPR1chr3:4808394chr3:5024521ENST00000357086+42592472_25371860.33333333333332711.0ERP44
HgeneITPR1chr3:4808394chr3:5024521ENST00000443694+42592472_25371893.33333333333332744.0ERP44
HgeneITPR1chr3:4808394chr3:5024521ENST00000456211+41582472_25371845.33333333333332696.0ERP44


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Related Drugs to ITPR1-BHLHE40


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 ITPR1-BHLHE40


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