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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:SH3GLB1-CLCA1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SH3GLB1-CLCA1
FusionPDB ID: 81479
FusionGDB2.0 ID: 81479
HgeneTgene
Gene symbol

SH3GLB1

CLCA1

Gene ID

51100

1179

Gene nameSH3 domain containing GRB2 like, endophilin B1chloride channel accessory 1
SynonymsBif-1|CGI-61|PPP1R70|dJ612B15.2CACC|CACC1|CLCRG1|CaCC-1|GOB5|hCLCA1|hCaCC-1
Cytomap

1p22.3

1p22.3

Type of geneprotein-codingprotein-coding
Descriptionendophilin-B1Bax-interacting factor 1SH3 domain-containing GRB2-like protein B1SH3-containing protein SH3GLB1SH3-domain GRB2 like endophilin B1protein phosphatase 1, regulatory subunit 70testicular tissue protein Li 172calcium-activated chloride channel regulator 1CLCA family member 1, chloride channel regulatorcalcium-activated chloride channel family member 1calcium-activated chloride channel protein 1calcium-dependent chloride channel-1chloride channel regulator
Modification date2020031320200313
UniProtAcc.

A8K7I4

Ensembl transtripts involved in fusion geneENST idsENST00000535010, ENST00000370558, 
ENST00000482504, 
ENST00000234701, 
ENST00000394711, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 5 X 2=403 X 3 X 3=27
# samples 43
** MAII scorelog2(4/40*10)=0log2(3/27*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: SH3GLB1 [Title/Abstract] AND CLCA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SH3GLB1(87181548)-CLCA1(86934704), # samples:2
Anticipated loss of major functional domain due to fusion event.SH3GLB1-CLCA1 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.
SH3GLB1-CLCA1 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.
SH3GLB1-CLCA1 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.
SH3GLB1-CLCA1 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.
SH3GLB1-CLCA1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SH3GLB1-CLCA1 seems lost the major protein functional domain in Hgene 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
HgeneSH3GLB1

GO:0031334

positive regulation of protein complex assembly

19074440


check buttonFusion gene breakpoints across SH3GLB1 (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 CLCA1 (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
ChimerDB4CESCTCGA-JX-A3PZ-01ASH3GLB1chr1

87170654

+CLCA1chr1

86934704

+
ChimerDB4CESCTCGA-JX-A3PZ-01ASH3GLB1chr1

87181548

+CLCA1chr1

86934704

+


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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)
ENST00000370558SH3GLB1chr187181548+ENST00000234701CLCA1chr186934704+34475385453232895
ENST00000482504SH3GLB1chr187181548+ENST00000234701CLCA1chr186934704+31282192262913895
ENST00000370558SH3GLB1chr187170654+ENST00000394711CLCA1chr186934704+33353964033090895
ENST00000482504SH3GLB1chr187170654+ENST00000394711CLCA1chr186934704+301677842771895

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
ENST00000370558ENST00000234701SH3GLB1chr187181548+CLCA1chr186934704+0.0015934540.9984066
ENST00000482504ENST00000234701SH3GLB1chr187181548+CLCA1chr186934704+0.0015680780.99843186
ENST00000370558ENST00000394711SH3GLB1chr187170654+CLCA1chr186934704+0.0015229210.99847704
ENST00000482504ENST00000394711SH3GLB1chr187170654+CLCA1chr186934704+0.0015449910.99845505

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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

>81479_81479_1_SH3GLB1-CLCA1_SH3GLB1_chr1_87170654_ENST00000370558_CLCA1_chr1_86934704_ENST00000394711_length(amino acids)=895AA_BP=
MSNSLIQLNNNGYEGIVVAIDPNVPEDETLIQQIKDMVTQASLYLLEATGKRFYFKNVAILIPETWKTKADYVRPKLETYKNADVLVAES
TPPGNDEPYTEQMGNCGEKGERIHLTPDFIAGKKLAEYGPQGRAFVHEWAHLRWGVFDEYNNDEKFYLSNGRIQAVRCSAGITGTNVVKK
CQGGSCYTKRCTFNKVTGLYEKGCEFVLQSRQTEKASIMFAQHVDSIVEFCTEQNHNKEAPNKQNQKCNLRSTWEVIRDSEDFKKTTPMT
TQPPNPTFSLLQIGQRIVCLVLDKSGSMATGNRLNRLNQAGQLFLLQTVELGSWVGMVTFDSAAHVQNELIQINSGSDRDTLAKRLPAAA
SGGTSICSGLRSAFTVIRKKYPTDGSEIVLLTDGEDNTISGCFNEVKQSGAIIHTVALGPSAAQELEELSKMTGGLQTYASDQVQNNGLI
DAFGALSSGNGAVSQRSIQLESKGLTLQNSQWMNGTVIVDSTVGKDTLFLITWTMQPPQILLWDPSGQKQGGFVVDKNTKMAYLQIPGIA
KVGTWKYSLQASSQTLTLTVTSRASNATLPPITVTSKTNKDTSKFPSPLVVYANIRQGASPILRASVTALIESVNGKTVTLELLDNGAGA
DATKDDGVYSRYFTTYDTNGRYSVKVRALGGVNAARRRVIPQQSGALYIPGWIENDEIQWNPPRPEINKDDVQHKQVCFSRTSSGGSFVA
SDVPNAPIPDLFPPGQITDLKAEIHGGSLINLTWTAPGDDYDHGTAHKYIIRISTSILDLRDKFNESLQVNTTALIPKEANSEEVFLFKP

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

>81479_81479_2_SH3GLB1-CLCA1_SH3GLB1_chr1_87170654_ENST00000482504_CLCA1_chr1_86934704_ENST00000394711_length(amino acids)=895AA_BP=
MSNSLIQLNNNGYEGIVVAIDPNVPEDETLIQQIKDMVTQASLYLLEATGKRFYFKNVAILIPETWKTKADYVRPKLETYKNADVLVAES
TPPGNDEPYTEQMGNCGEKGERIHLTPDFIAGKKLAEYGPQGRAFVHEWAHLRWGVFDEYNNDEKFYLSNGRIQAVRCSAGITGTNVVKK
CQGGSCYTKRCTFNKVTGLYEKGCEFVLQSRQTEKASIMFAQHVDSIVEFCTEQNHNKEAPNKQNQKCNLRSTWEVIRDSEDFKKTTPMT
TQPPNPTFSLLQIGQRIVCLVLDKSGSMATGNRLNRLNQAGQLFLLQTVELGSWVGMVTFDSAAHVQNELIQINSGSDRDTLAKRLPAAA
SGGTSICSGLRSAFTVIRKKYPTDGSEIVLLTDGEDNTISGCFNEVKQSGAIIHTVALGPSAAQELEELSKMTGGLQTYASDQVQNNGLI
DAFGALSSGNGAVSQRSIQLESKGLTLQNSQWMNGTVIVDSTVGKDTLFLITWTMQPPQILLWDPSGQKQGGFVVDKNTKMAYLQIPGIA
KVGTWKYSLQASSQTLTLTVTSRASNATLPPITVTSKTNKDTSKFPSPLVVYANIRQGASPILRASVTALIESVNGKTVTLELLDNGAGA
DATKDDGVYSRYFTTYDTNGRYSVKVRALGGVNAARRRVIPQQSGALYIPGWIENDEIQWNPPRPEINKDDVQHKQVCFSRTSSGGSFVA
SDVPNAPIPDLFPPGQITDLKAEIHGGSLINLTWTAPGDDYDHGTAHKYIIRISTSILDLRDKFNESLQVNTTALIPKEANSEEVFLFKP

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

>81479_81479_3_SH3GLB1-CLCA1_SH3GLB1_chr1_87181548_ENST00000370558_CLCA1_chr1_86934704_ENST00000234701_length(amino acids)=895AA_BP=
MSNSLIQLNNNGYEGIVVAIDPNVPEDETLIQQIKDMVTQASLYLLEATGKRFYFKNVAILIPETWKTKADYVRPKLETYKNADVLVAES
TPPGNDEPYTEQMGNCGEKGERIHLTPDFIAGKKLAEYGPQGRAFVHEWAHLRWGVFDEYNNDEKFYLSNGRIQAVRCSAGITGTNVVKK
CQGGSCYTKRCTFNKVTGLYEKGCEFVLQSRQTEKASIMFAQHVDSIVEFCTEQNHNKEAPNKQNQKCNLRSTWEVIRDSEDFKKTTPMT
TQPPNPTFSLLQIGQRIVCLVLDKSGSMATGNRLNRLNQAGQLFLLQTVELGSWVGMVTFDSAAHVQNELIQINSGSDRDTLAKRLPAAA
SGGTSICSGLRSAFTVIRKKYPTDGSEIVLLTDGEDNTISGCFNEVKQSGAIIHTVALGPSAAQELEELSKMTGGLQTYASDQVQNNGLI
DAFGALSSGNGAVSQRSIQLESKGLTLQNSQWMNGTVIVDSTVGKDTLFLITWTMQPPQILLWDPSGQKQGGFVVDKNTKMAYLQIPGIA
KVGTWKYSLQASSQTLTLTVTSRASNATLPPITVTSKTNKDTSKFPSPLVVYANIRQGASPILRASVTALIESVNGKTVTLELLDNGAGA
DATKDDGVYSRYFTTYDTNGRYSVKVRALGGVNAARRRVIPQQSGALYIPGWIENDEIQWNPPRPEINKDDVQHKQVCFSRTSSGGSFVA
SDVPNAPIPDLFPPGQITDLKAEIHGGSLINLTWTAPGDDYDHGTAHKYIIRISTSILDLRDKFNESLQVNTTALIPKEANSEEVFLFKP

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

>81479_81479_4_SH3GLB1-CLCA1_SH3GLB1_chr1_87181548_ENST00000482504_CLCA1_chr1_86934704_ENST00000234701_length(amino acids)=895AA_BP=
MSNSLIQLNNNGYEGIVVAIDPNVPEDETLIQQIKDMVTQASLYLLEATGKRFYFKNVAILIPETWKTKADYVRPKLETYKNADVLVAES
TPPGNDEPYTEQMGNCGEKGERIHLTPDFIAGKKLAEYGPQGRAFVHEWAHLRWGVFDEYNNDEKFYLSNGRIQAVRCSAGITGTNVVKK
CQGGSCYTKRCTFNKVTGLYEKGCEFVLQSRQTEKASIMFAQHVDSIVEFCTEQNHNKEAPNKQNQKCNLRSTWEVIRDSEDFKKTTPMT
TQPPNPTFSLLQIGQRIVCLVLDKSGSMATGNRLNRLNQAGQLFLLQTVELGSWVGMVTFDSAAHVQNELIQINSGSDRDTLAKRLPAAA
SGGTSICSGLRSAFTVIRKKYPTDGSEIVLLTDGEDNTISGCFNEVKQSGAIIHTVALGPSAAQELEELSKMTGGLQTYASDQVQNNGLI
DAFGALSSGNGAVSQRSIQLESKGLTLQNSQWMNGTVIVDSTVGKDTLFLITWTMQPPQILLWDPSGQKQGGFVVDKNTKMAYLQIPGIA
KVGTWKYSLQASSQTLTLTVTSRASNATLPPITVTSKTNKDTSKFPSPLVVYANIRQGASPILRASVTALIESVNGKTVTLELLDNGAGA
DATKDDGVYSRYFTTYDTNGRYSVKVRALGGVNAARRRVIPQQSGALYIPGWIENDEIQWNPPRPEINKDDVQHKQVCFSRTSSGGSFVA
SDVPNAPIPDLFPPGQITDLKAEIHGGSLINLTWTAPGDDYDHGTAHKYIIRISTSILDLRDKFNESLQVNTTALIPKEANSEEVFLFKP

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

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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/chr1:87181548/chr1:86934704)
- 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
.CLCA1

A8K7I4

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC. {ECO:0000269|PubMed:11445004, ECO:0000269|PubMed:11842292, ECO:0000269|PubMed:11956057, ECO:0000269|PubMed:23112050, ECO:0000269|PubMed:9828122}.

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
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000370558+291_3071.33333333333333366.0RegionNote=Membrane-binding amphipathic helix
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000370558+291_3771.33333333333333366.0RegionRequired for membrane binding
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000482504+2111_3071.33333333333333387.0RegionNote=Membrane-binding amphipathic helix
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000482504+2111_3771.33333333333333387.0RegionRequired for membrane binding
TgeneCLCA1chr1:87170654chr1:86934704ENST00000234701015306_4750915.0DomainVWFA
TgeneCLCA1chr1:87170654chr1:86934704ENST00000394711014306_4750915.0DomainVWFA
TgeneCLCA1chr1:87181548chr1:86934704ENST00000234701015306_4750915.0DomainVWFA
TgeneCLCA1chr1:87181548chr1:86934704ENST00000394711014306_4750915.0DomainVWFA
TgeneCLCA1chr1:87170654chr1:86934704ENST0000023470101546_1990915.0RegionMetalloprotease domain
TgeneCLCA1chr1:87170654chr1:86934704ENST0000039471101446_1990915.0RegionMetalloprotease domain
TgeneCLCA1chr1:87181548chr1:86934704ENST0000023470101546_1990915.0RegionMetalloprotease domain
TgeneCLCA1chr1:87181548chr1:86934704ENST0000039471101446_1990915.0RegionMetalloprotease domain

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000370558+19155_19524.0366.0Coiled coilOntology_term=ECO:0000255
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000482504+111155_19524.0387.0Coiled coilOntology_term=ECO:0000255
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000535010+18155_1950266.0Coiled coilOntology_term=ECO:0000255
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000370558+29155_19571.33333333333333366.0Coiled coilOntology_term=ECO:0000255
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000482504+211155_19571.33333333333333387.0Coiled coilOntology_term=ECO:0000255
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000535010+18155_1950266.0Coiled coilOntology_term=ECO:0000255
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000370558+1927_26124.0366.0DomainBAR
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000370558+19305_36524.0366.0DomainSH3
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000482504+11127_26124.0387.0DomainBAR
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000482504+111305_36524.0387.0DomainSH3
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000535010+1827_2610266.0DomainBAR
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000535010+18305_3650266.0DomainSH3
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000370558+2927_26171.33333333333333366.0DomainBAR
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000370558+29305_36571.33333333333333366.0DomainSH3
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000482504+21127_26171.33333333333333387.0DomainBAR
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000482504+211305_36571.33333333333333387.0DomainSH3
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000535010+1827_2610266.0DomainBAR
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000535010+18305_3650266.0DomainSH3
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000370558+191_3024.0366.0RegionNote=Membrane-binding amphipathic helix
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000370558+191_3724.0366.0RegionRequired for membrane binding
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000482504+1111_3024.0387.0RegionNote=Membrane-binding amphipathic helix
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000482504+1111_3724.0387.0RegionRequired for membrane binding
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000535010+181_300266.0RegionNote=Membrane-binding amphipathic helix
HgeneSH3GLB1chr1:87170654chr1:86934704ENST00000535010+181_370266.0RegionRequired for membrane binding
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000535010+181_300266.0RegionNote=Membrane-binding amphipathic helix
HgeneSH3GLB1chr1:87181548chr1:86934704ENST00000535010+181_370266.0RegionRequired for membrane binding


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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
SH3GLB1
CLCA1


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 SH3GLB1-CLCA1


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 SH3GLB1-CLCA1


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