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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:HIRA-CABIN1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: HIRA-CABIN1
FusionPDB ID: 36430
FusionGDB2.0 ID: 36430
HgeneTgene
Gene symbol

HIRA

CABIN1

Gene ID

7290

23523

Gene namehistone cell cycle regulatorcalcineurin binding protein 1
SynonymsDGCR1|TUP1|TUPLE1CAIN|KB-318B8.7|PPP3IN
Cytomap

22q11.21

22q11.23

Type of geneprotein-codingprotein-coding
Descriptionprotein HIRADiGeorge critical region gene 1HIR histone cell cycle regulation defective homolog ATUP1-like enhancer of split protein 1histone regulator Acalcineurin-binding protein cabin-1calcineurin binding protein cabin 1calcineurin inhibitor
Modification date2020031320200313
UniProtAcc

P54198

Q9Y6J0

Ensembl transtripts involved in fusion geneENST idsENST00000263208, ENST00000340170, 
ENST00000541063, ENST00000546308, 
ENST00000464189, 
ENST00000485008, 
ENST00000263119, ENST00000337989, 
ENST00000398319, ENST00000405822, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score18 X 15 X 9=243013 X 11 X 7=1001
# samples 2315
** MAII scorelog2(23/2430*10)=-3.40125054754877
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/1001*10)=-2.73840756834011
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: HIRA [Title/Abstract] AND CABIN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)HIRA(19371143)-CABIN1(24560368), # samples:3
Anticipated loss of major functional domain due to fusion event.HIRA-CABIN1 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.
HIRA-CABIN1 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.
HIRA-CABIN1 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.
HIRA-CABIN1 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.
HIRA-CABIN1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
HIRA-CABIN1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
HIRA-CABIN1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
HIRA-CABIN1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneHIRA

GO:0006336

DNA replication-independent nucleosome assembly

14718166

TgeneCABIN1

GO:0006336

DNA replication-independent nucleosome assembly

14718166


check buttonFusion gene breakpoints across HIRA (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 CABIN1 (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-BH-A0AU-01AHIRAchr22

19371143

-CABIN1chr22

24560368

+


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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)
ENST00000541063HIRAchr2219371143-ENST00000263119CABIN1chr2224560368+3764141513913331646
ENST00000541063HIRAchr2219371143-ENST00000405822CABIN1chr2224560368+3764141513913331646
ENST00000541063HIRAchr2219371143-ENST00000398319CABIN1chr2224560368+3764141513913331646
ENST00000541063HIRAchr2219371143-ENST00000337989CABIN1chr2224560368+3598141513913166591

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
ENST00000541063ENST00000263119HIRAchr2219371143-CABIN1chr2224560368+0.0239768810.9760231
ENST00000541063ENST00000405822HIRAchr2219371143-CABIN1chr2224560368+0.0239768810.9760231
ENST00000541063ENST00000398319HIRAchr2219371143-CABIN1chr2224560368+0.0239768810.9760231
ENST00000541063ENST00000337989HIRAchr2219371143-CABIN1chr2224560368+0.023775360.9762247

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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

>36430_36430_1_HIRA-CABIN1_HIRA_chr22_19371143_ENST00000541063_CABIN1_chr22_24560368_ENST00000263119_length(amino acids)=646AA_BP=8
MHSTAGHWGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSMLQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTL
SELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPGPEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPR
AGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQQPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLS
RKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEEAALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDS
RENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTLDQSKDPGPPRPHRPEATPSMASLGPEGEELARVAEG
TSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPTCSQEGKLRPEPRRDGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEG
HPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEETKQKLKSAILSAQSAANVRKESLCQPALEVLETSSQE

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

>36430_36430_2_HIRA-CABIN1_HIRA_chr22_19371143_ENST00000541063_CABIN1_chr22_24560368_ENST00000337989_length(amino acids)=591AA_BP=8
MHSTAGHWGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSMLQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTL
SELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPGPEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPR
AGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQQPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLS
RKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEEAALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDS
RENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTLDQSKDPGPPRPHRPEATPSMASLGPEGKLRPEPRRD
GEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEETK

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

>36430_36430_3_HIRA-CABIN1_HIRA_chr22_19371143_ENST00000541063_CABIN1_chr22_24560368_ENST00000398319_length(amino acids)=646AA_BP=8
MHSTAGHWGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSMLQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTL
SELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPGPEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPR
AGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQQPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLS
RKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEEAALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDS
RENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTLDQSKDPGPPRPHRPEATPSMASLGPEGEELARVAEG
TSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPTCSQEGKLRPEPRRDGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEG
HPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEETKQKLKSAILSAQSAANVRKESLCQPALEVLETSSQE

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

>36430_36430_4_HIRA-CABIN1_HIRA_chr22_19371143_ENST00000541063_CABIN1_chr22_24560368_ENST00000405822_length(amino acids)=646AA_BP=8
MHSTAGHWGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSMLQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTL
SELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPGPEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPR
AGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQQPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLS
RKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEEAALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDS
RENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTLDQSKDPGPPRPHRPEATPSMASLGPEGEELARVAEG
TSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPTCSQEGKLRPEPRRDGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEG
HPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEETKQKLKSAILSAQSAANVRKESLCQPALEVLETSSQE

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

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr22:19371143/chr22:24560368)
- 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
HIRA

P54198

CABIN1

Q9Y6J0

FUNCTION: Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. {ECO:0000269|PubMed:12370293, ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:15621527}.FUNCTION: May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of it's target genes. {ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:9655484}.

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
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325408_412471.66666666666671018.0Compositional biasNote=Poly-Gln
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321408_412471.6666666666667811.0Compositional biasNote=Poly-Gln
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-132511_53471.66666666666671018.0RepeatNote=WD 1
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325129_168471.66666666666671018.0RepeatNote=WD 3
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325172_211471.66666666666671018.0RepeatNote=WD 4
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325220_263471.66666666666671018.0RepeatNote=WD 5
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325266_322471.66666666666671018.0RepeatNote=WD 6
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325326_367471.66666666666671018.0RepeatNote=WD 7
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-132568_107471.66666666666671018.0RepeatNote=WD 2
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-132111_53471.6666666666667811.0RepeatNote=WD 1
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321129_168471.6666666666667811.0RepeatNote=WD 3
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321172_211471.6666666666667811.0RepeatNote=WD 4
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321220_263471.6666666666667811.0RepeatNote=WD 5
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321266_322471.6666666666667811.0RepeatNote=WD 6
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321326_367471.6666666666667811.0RepeatNote=WD 7
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-132168_107471.6666666666667811.0RepeatNote=WD 2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325640_643471.66666666666671018.0Compositional biasNote=Poly-Lys
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325805_808471.66666666666671018.0Compositional biasNote=Poly-Val
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321640_643471.6666666666667811.0Compositional biasNote=Poly-Lys
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321805_808471.6666666666667811.0Compositional biasNote=Poly-Val
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325439_475471.66666666666671018.0RegionNote=Required for repression of histone gene transcription
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321439_475471.6666666666667811.0RegionNote=Required for repression of histone gene transcription
TgeneCABIN1chr22:19371143chr22:24560368ENST0000026311928371055_10881582.02221.0RepeatNote=TPR 5
TgeneCABIN1chr22:19371143chr22:24560368ENST0000026311928371106_11391582.02221.0RepeatNote=TPR 6
TgeneCABIN1chr22:19371143chr22:24560368ENST000002631192837125_1571582.02221.0RepeatNote=TPR 3
TgeneCABIN1chr22:19371143chr22:24560368ENST00000263119283736_691582.02221.0RepeatNote=TPR 1
TgeneCABIN1chr22:19371143chr22:24560368ENST000002631192837615_6481582.02221.0RepeatNote=TPR 4
TgeneCABIN1chr22:19371143chr22:24560368ENST00000263119283790_1231582.02221.0RepeatNote=TPR 2
TgeneCABIN1chr22:19371143chr22:24560368ENST0000039831928371055_10881582.02221.0RepeatNote=TPR 5
TgeneCABIN1chr22:19371143chr22:24560368ENST0000039831928371106_11391582.02221.0RepeatNote=TPR 6
TgeneCABIN1chr22:19371143chr22:24560368ENST000003983192837125_1571582.02221.0RepeatNote=TPR 3
TgeneCABIN1chr22:19371143chr22:24560368ENST00000398319283736_691582.02221.0RepeatNote=TPR 1
TgeneCABIN1chr22:19371143chr22:24560368ENST000003983192837615_6481582.02221.0RepeatNote=TPR 4
TgeneCABIN1chr22:19371143chr22:24560368ENST00000398319283790_1231582.02221.0RepeatNote=TPR 2


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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
CABIN1MEF2BNB-MEF2B, HDAC1, HDAC2, SIN3A, MEF2D, DNM1, AMPH, AP1B1, PPP3CA, SUV39H1, HIRA, CAMK4, YWHAQ, H3F3A, UBN1, POLR2A, TFAP4, HECW2, MEF2B, EAF1, HIST1H3A, ASF1A, MEF2A, NFATC2, ASF1B, CDX1, XAGE1B, TLK2, SMARCA4, SMARCB1, ESR2, TP53BP1, BRCA1, KIAA1429, HIST1H4A, TCF7L2, GRM1, HIST1H1A, ATRX, KIF14, PYHIN1, UBN2, CDAN1, C15orf41, HAT1, NASP, CALML5, MCM2, CSTA, SPRR1B, S100A14, FABP5, RIF1, RBBP4, ERCC4, HNRNPCL2, ZCCHC10, IFI6, H3F3B, HMGA1, HIST1H3F, HNF1B, HNF4A, MYOD1, PAX6, YY1,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
HIRA
CABIN1all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325421_479471.66666666666671018.0ASF1A
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321421_479471.6666666666667811.0ASF1A
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325421_729471.66666666666671018.0CCNA1
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321421_729471.6666666666667811.0CCNA1
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325593_826471.66666666666671018.0histone H2B
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321593_826471.6666666666667811.0histone H2B
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325738_1017471.66666666666671018.0histone H4
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321738_1017471.6666666666667811.0histone H4
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325594_739471.66666666666671018.0PAX3
HgeneHIRAchr22:19371143chr22:24560368ENST00000263208-1325740_828471.66666666666671018.0PAX3
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321594_739471.6666666666667811.0PAX3
HgeneHIRAchr22:19371143chr22:24560368ENST00000340170-1321740_828471.6666666666667811.0PAX3


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Related Drugs to HIRA-CABIN1


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 HIRA-CABIN1


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
TgeneCABIN1C0018800Cardiomegaly1CTD_human
TgeneCABIN1C1383860Cardiac Hypertrophy1CTD_human