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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:C21orf91-GLT25D2 (FusionGDB2 ID:HG54149TG23127)

Fusion Gene Summary for C21orf91-GLT25D2

check button Fusion gene summary
Fusion gene informationFusion gene name: C21orf91-GLT25D2
Fusion gene ID: hg54149tg23127
HgeneTgene
Gene symbol

C21orf91

GLT25D2

Gene ID

54149

23127

Gene namechromosome 21 open reading frame 91collagen beta(1-O)galactosyltransferase 2
SynonymsC21orf14|C21orf38|CSSG1|EURL|YG81C1orf17|ColGalT 2|GLT25D2
Cytomap('C21orf91','C21orf91')('COLGALT2','GLT25D2')

21q21.1

1q25.3

Type of geneprotein-codingprotein-coding
Descriptionprotein EURL homologcold sore susceptibility gene 1early undifferentiated retina and lensprocollagen galactosyltransferase 2glycosyltransferase 25 domain containing 2glycosyltransferase 25 family member 2hydroxylysine galactosyltransferase 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000284881, ENST00000400558, 
ENST00000400559, ENST00000493464, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 3 X 5=90
# samples 26
** MAII scorelog2(2/8*10)=1.32192809488736log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C21orf91 [Title/Abstract] AND GLT25D2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC21orf91(19190509)-COLGALT2(183914698), # samples:2
C21orf91(19190508)-GLT25D2(183914698), # samples:1
C21orf91(19190509)-GLT25D2(183914698), # samples:1
Anticipated loss of major functional domain due to fusion event.C21orf91-COLGALT2 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.
C21orf91-COLGALT2 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

check buttonFusion gene breakpoints across C21orf91 (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 GLT25D2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4SARCTCGA-DX-A2J0-01AC21orf91chr21

19190509

-COLGALT2chr1

183914698

-
ChimerDB4SARCTCGA-DX-A2J0-01AC21orf91chr21

19190509

-GLT25D2chr1

183914698

-
ChimerDB4SARCTCGA-DX-A2J0C21orf91chr21

19190508

-GLT25D2chr1

183914698

-


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Fusion Gene ORF analysis for C21orf91-GLT25D2

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000284881ENST00000361927C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-5UTRENST00000284881ENST00000367520C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-5UTRENST00000284881ENST00000367521C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-5UTRENST00000400558ENST00000361927C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-5UTRENST00000400558ENST00000367520C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-5UTRENST00000400558ENST00000367521C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-5UTRENST00000400559ENST00000361927C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-5UTRENST00000400559ENST00000367520C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-5UTRENST00000400559ENST00000367521C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-intronENST00000284881ENST00000486375C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-intronENST00000400558ENST00000486375C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5CDS-intronENST00000400559ENST00000486375C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5UTR-3CDSENST00000493464ENST00000546159C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5UTR-5UTRENST00000493464ENST00000361927C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5UTR-5UTRENST00000493464ENST00000367520C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5UTR-5UTRENST00000493464ENST00000367521C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
5UTR-intronENST00000493464ENST00000486375C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
In-frameENST00000284881ENST00000546159C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
In-frameENST00000400558ENST00000546159C21orf91chr21

19190509

-COLGALT2chr1

183914698

-
In-frameENST00000400559ENST00000546159C21orf91chr21

19190509

-COLGALT2chr1

183914698

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000284881C21orf91chr2119190509-ENST00000546159COLGALT2chr1183914698-1314218237746169
ENST00000400559C21orf91chr2119190509-ENST00000546159COLGALT2chr1183914698-1314218237746169
ENST00000400558C21orf91chr2119190509-ENST00000546159COLGALT2chr1183914698-1314218237746169

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
ENST00000284881ENST00000546159C21orf91chr2119190509-COLGALT2chr1183914698-0.0041278170.9958722
ENST00000400559ENST00000546159C21orf91chr2119190509-COLGALT2chr1183914698-0.0041278170.9958722
ENST00000400558ENST00000546159C21orf91chr2119190509-COLGALT2chr1183914698-0.0041278170.9958722

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Fusion Genomic Features for C21orf91-GLT25D2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for C21orf91-GLT25D2


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/:19190509/:183914698)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCOLGALT2chr21:19190509chr1:183914698ENST00000361927712623_626378627.0MotifPrevents secretion from ER

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC21orf91chr21:19190509chr1:183914698ENST00000284881-25227_25642298.0Coiled coilOntology_term=ECO:0000255
HgeneC21orf91chr21:19190509chr1:183914698ENST00000400558-24227_25642222.0Coiled coilOntology_term=ECO:0000255
HgeneC21orf91chr21:19190509chr1:183914698ENST00000400559-25227_25642297.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for C21orf91-GLT25D2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>11550_11550_1_C21orf91-COLGALT2_C21orf91_chr21_19190509_ENST00000284881_COLGALT2_chr1_183914698_ENST00000546159_length(transcript)=1314nt_BP=218nt
GCGGCCGCCTCTGCTGCGGCCGGAAACAATAGTGGAGGAACCCGAGCCGCACGGAACGGCGGTGGTGGCCCGCGGAGCCGGACGGGGCAC
TATGAACGAAGAGGAGCAGTTTGTAAACATTGATTTGAATGATGACAACATTTGCAGTGTTTGTAAACTGGGAACAGACAAAGAAACACT
CTCCTTCTGCCACATTTGTTTTGAGCTAAATATTGAGGGGCACTCAACACAAGCCAGCTGAAGGCACTGAATATTGAAATGCTGCCTGGC
TATCGAGATCCCTATTCCTCCAGGCCTCTAACAAGGGGTGAAATCGGCTGCTTTCTCAGCCACTACTCAGTCTGGAAAGAGGTAATTGAT
CGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGCGTTTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGATAACATT
GACCAGGCTCAGCTGGACTGGGAACTGATTTATATTGGTAGGAAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAATGTGGCA
AACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCTACGTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAATCCTTTT
GGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGTACAACAAGCATCCCGTCCTCCTCTCAAGTCCTCACTGCCATCTCTTCCAA
ACACTTTCTGATGACTGCCAACGGTGAACAAACCCGTGCACCCTAGGAGAAGGCATTACCCCTCTGTGGCAGAGGTGGTCGTGTTCATCA
ACTCCTCCAGGTTTCTCCTGCATTTCCCACCTCCCCTGTACTCACATCGGGCCCGGGGACTGGTTGATGGGCTGTGAACAGAAGTGACAG
GTGTCGCTTTGGTCTAAGGCAGTTGGGAACAGTTTGTGAGTTCTCTTTACTCTCTTTATCATCACTGTGACTGGAAGGGAAACACCGAGA
TGGCGAAGTTGCAAGATGGAAGCTGCCTGGATCTGTGAGCTGCTGTTAGAGAAAAGCTACTAAGGAGTTTCCTGGCTTGCATTACACTGT
CCCGTGAAAGAAAAAATAAACCTCGGTCTTAAGCTGTTGAAATTTCTTGGTTTGTTACTTCGGTCCAGCCTAGCCTAGCCTAACACATCC
CTTCCAAAGGTATTTAATTTTAAGAGAGATGTCTAGGGGGAAAAGCAATGCAAAATGCAATGGAAATAACTTTGCCTAGTGGAAATGTAG

>11550_11550_1_C21orf91-COLGALT2_C21orf91_chr21_19190509_ENST00000284881_COLGALT2_chr1_183914698_ENST00000546159_length(amino acids)=169AA_BP=
MKALNIEMLPGYRDPYSSRPLTRGEIGCFLSHYSVWKEVIDRELEKTLVIEDDVRFEHQFKKKLMKLMDNIDQAQLDWELIYIGRKRMQV

--------------------------------------------------------------
>11550_11550_2_C21orf91-COLGALT2_C21orf91_chr21_19190509_ENST00000400558_COLGALT2_chr1_183914698_ENST00000546159_length(transcript)=1314nt_BP=218nt
GCGGCCGCCTCTGCTGCGGCCGGAAACAATAGTGGAGGAACCCGAGCCGCACGGAACGGCGGTGGTGGCCCGCGGAGCCGGACGGGGCAC
TATGAACGAAGAGGAGCAGTTTGTAAACATTGATTTGAATGATGACAACATTTGCAGTGTTTGTAAACTGGGAACAGACAAAGAAACACT
CTCCTTCTGCCACATTTGTTTTGAGCTAAATATTGAGGGGCACTCAACACAAGCCAGCTGAAGGCACTGAATATTGAAATGCTGCCTGGC
TATCGAGATCCCTATTCCTCCAGGCCTCTAACAAGGGGTGAAATCGGCTGCTTTCTCAGCCACTACTCAGTCTGGAAAGAGGTAATTGAT
CGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGCGTTTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGATAACATT
GACCAGGCTCAGCTGGACTGGGAACTGATTTATATTGGTAGGAAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAATGTGGCA
AACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCTACGTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAATCCTTTT
GGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGTACAACAAGCATCCCGTCCTCCTCTCAAGTCCTCACTGCCATCTCTTCCAA
ACACTTTCTGATGACTGCCAACGGTGAACAAACCCGTGCACCCTAGGAGAAGGCATTACCCCTCTGTGGCAGAGGTGGTCGTGTTCATCA
ACTCCTCCAGGTTTCTCCTGCATTTCCCACCTCCCCTGTACTCACATCGGGCCCGGGGACTGGTTGATGGGCTGTGAACAGAAGTGACAG
GTGTCGCTTTGGTCTAAGGCAGTTGGGAACAGTTTGTGAGTTCTCTTTACTCTCTTTATCATCACTGTGACTGGAAGGGAAACACCGAGA
TGGCGAAGTTGCAAGATGGAAGCTGCCTGGATCTGTGAGCTGCTGTTAGAGAAAAGCTACTAAGGAGTTTCCTGGCTTGCATTACACTGT
CCCGTGAAAGAAAAAATAAACCTCGGTCTTAAGCTGTTGAAATTTCTTGGTTTGTTACTTCGGTCCAGCCTAGCCTAGCCTAACACATCC
CTTCCAAAGGTATTTAATTTTAAGAGAGATGTCTAGGGGGAAAAGCAATGCAAAATGCAATGGAAATAACTTTGCCTAGTGGAAATGTAG

>11550_11550_2_C21orf91-COLGALT2_C21orf91_chr21_19190509_ENST00000400558_COLGALT2_chr1_183914698_ENST00000546159_length(amino acids)=169AA_BP=
MKALNIEMLPGYRDPYSSRPLTRGEIGCFLSHYSVWKEVIDRELEKTLVIEDDVRFEHQFKKKLMKLMDNIDQAQLDWELIYIGRKRMQV

--------------------------------------------------------------
>11550_11550_3_C21orf91-COLGALT2_C21orf91_chr21_19190509_ENST00000400559_COLGALT2_chr1_183914698_ENST00000546159_length(transcript)=1314nt_BP=218nt
GCGGCCGCCTCTGCTGCGGCCGGAAACAATAGTGGAGGAACCCGAGCCGCACGGAACGGCGGTGGTGGCCCGCGGAGCCGGACGGGGCAC
TATGAACGAAGAGGAGCAGTTTGTAAACATTGATTTGAATGATGACAACATTTGCAGTGTTTGTAAACTGGGAACAGACAAAGAAACACT
CTCCTTCTGCCACATTTGTTTTGAGCTAAATATTGAGGGGCACTCAACACAAGCCAGCTGAAGGCACTGAATATTGAAATGCTGCCTGGC
TATCGAGATCCCTATTCCTCCAGGCCTCTAACAAGGGGTGAAATCGGCTGCTTTCTCAGCCACTACTCAGTCTGGAAAGAGGTAATTGAT
CGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGCGTTTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGATAACATT
GACCAGGCTCAGCTGGACTGGGAACTGATTTATATTGGTAGGAAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAATGTGGCA
AACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCTACGTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAATCCTTTT
GGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGTACAACAAGCATCCCGTCCTCCTCTCAAGTCCTCACTGCCATCTCTTCCAA
ACACTTTCTGATGACTGCCAACGGTGAACAAACCCGTGCACCCTAGGAGAAGGCATTACCCCTCTGTGGCAGAGGTGGTCGTGTTCATCA
ACTCCTCCAGGTTTCTCCTGCATTTCCCACCTCCCCTGTACTCACATCGGGCCCGGGGACTGGTTGATGGGCTGTGAACAGAAGTGACAG
GTGTCGCTTTGGTCTAAGGCAGTTGGGAACAGTTTGTGAGTTCTCTTTACTCTCTTTATCATCACTGTGACTGGAAGGGAAACACCGAGA
TGGCGAAGTTGCAAGATGGAAGCTGCCTGGATCTGTGAGCTGCTGTTAGAGAAAAGCTACTAAGGAGTTTCCTGGCTTGCATTACACTGT
CCCGTGAAAGAAAAAATAAACCTCGGTCTTAAGCTGTTGAAATTTCTTGGTTTGTTACTTCGGTCCAGCCTAGCCTAGCCTAACACATCC
CTTCCAAAGGTATTTAATTTTAAGAGAGATGTCTAGGGGGAAAAGCAATGCAAAATGCAATGGAAATAACTTTGCCTAGTGGAAATGTAG

>11550_11550_3_C21orf91-COLGALT2_C21orf91_chr21_19190509_ENST00000400559_COLGALT2_chr1_183914698_ENST00000546159_length(amino acids)=169AA_BP=
MKALNIEMLPGYRDPYSSRPLTRGEIGCFLSHYSVWKEVIDRELEKTLVIEDDVRFEHQFKKKLMKLMDNIDQAQLDWELIYIGRKRMQV

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

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Fusion Gene PPI Analysis for C21orf91-GLT25D2


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for C21orf91-GLT25D2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for C21orf91-GLT25D2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource