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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:BAIAP2L1-BAG1 (FusionGDB2 ID:HG55971TG573)

Fusion Gene Summary for BAIAP2L1-BAG1

check button Fusion gene summary
Fusion gene informationFusion gene name: BAIAP2L1-BAG1
Fusion gene ID: hg55971tg573
HgeneTgene
Gene symbol

BAIAP2L1

BAG1

Gene ID

55971

573

Gene nameBAR/IMD domain containing adaptor protein 2 like 1BAG cochaperone 1
SynonymsIRTKSBAG-1|HAP|RAP46
Cytomap('BAIAP2L1')('BAG1')

7q21.3-q22.1

9p13.3

Type of geneprotein-codingprotein-coding
Descriptionbrain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1BAI1 associated protein 2 like 1BAI1-associated protein 2-like protein 1insulin receptor tyrosine kinase substrateBAG family molecular chaperone regulator 1BCL2 associated athanogene 1BCL2-associated athanogeneBcl-2 associating athanogene-1 proteinBcl-2-binding proteinglucocortoid receptor-associated protein RAP46receptor-associated protein, 46-KD
Modification date2020031320200313
UniProtAcc

Q9UHR4

.
Ensembl transtripts involved in fusion geneENST00000005260, ENST00000462558, 
Fusion gene scores* DoF score20 X 13 X 9=23407 X 7 X 4=196
# samples 238
** MAII scorelog2(23/2340*10)=-3.34680276352639
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/196*10)=-1.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BAIAP2L1 [Title/Abstract] AND BAG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBAIAP2L1(97984353)-BAG1(33262828), # samples:1
Anticipated loss of major functional domain due to fusion event.BAIAP2L1-BAG1 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.
BAIAP2L1-BAG1 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.
BAIAP2L1-BAG1 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.
BAIAP2L1-BAG1 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
HgeneBAIAP2L1

GO:0009617

response to bacterium

19366662

HgeneBAIAP2L1

GO:0030838

positive regulation of actin filament polymerization

21098279

TgeneBAG1

GO:0051085

chaperone cofactor-dependent protein refolding

12853476


check buttonFusion gene breakpoints across BAIAP2L1 (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 BAG1 (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
ChimerDB4Non-Cancer271NBAIAP2L1chr7

97984353

-BAG1chr9

33262828

-


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Fusion Gene ORF analysis for BAIAP2L1-BAG1

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-intronENST00000005260ENST00000379704BAIAP2L1chr7

97984353

-BAG1chr9

33262828

-
5CDS-intronENST00000005260ENST00000467389BAIAP2L1chr7

97984353

-BAG1chr9

33262828

-
5UTR-3CDSENST00000462558ENST00000472232BAIAP2L1chr7

97984353

-BAG1chr9

33262828

-
5UTR-intronENST00000462558ENST00000379704BAIAP2L1chr7

97984353

-BAG1chr9

33262828

-
5UTR-intronENST00000462558ENST00000467389BAIAP2L1chr7

97984353

-BAG1chr9

33262828

-
In-frameENST00000005260ENST00000472232BAIAP2L1chr7

97984353

-BAG1chr9

33262828

-

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)
ENST00000005260BAIAP2L1chr797984353-ENST00000472232BAG1chr933262828-3757430331016327

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
ENST00000005260ENST00000472232BAIAP2L1chr797984353-BAG1chr933262828-0.0011312310.99886876

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Fusion Genomic Features for BAIAP2L1-BAG1


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 BAIAP2L1-BAG1


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/chr7:97984353/chr9:33262828)
- 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
BAIAP2L1

Q9UHR4

.
FUNCTION: May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. {ECO:0000269|PubMed:17430976, ECO:0000269|PubMed:19366662, ECO:0000269|PubMed:22921828}.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
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407144_22435231.0DomainUbiquitin-like
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407246_32635231.0DomainBAG
TgeneBAG1chr7:97984353chr9:33262828ENST000003797040796_13735231.0RegionNote=7 X 6 AA tandem repeat of E-E-X(4)
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407102_10735231.0RepeatNote=2
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407108_11335231.0RepeatNote=3
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407114_11935231.0RepeatNote=4
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407120_12535231.0RepeatNote=5
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407126_13135231.0RepeatNote=6
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407132_13735231.0RepeatNote=7
TgeneBAG1chr7:97984353chr9:33262828ENST000003797040796_10135231.0RepeatNote=1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBAIAP2L1chr7:97984353chr9:33262828ENST00000005260-314115_15471512.0Coiled coilOntology_term=ECO:0000255
HgeneBAIAP2L1chr7:97984353chr9:33262828ENST00000005260-3141_24971512.0DomainIMD
HgeneBAIAP2L1chr7:97984353chr9:33262828ENST00000005260-314339_40271512.0DomainSH3
HgeneBAIAP2L1chr7:97984353chr9:33262828ENST00000005260-314483_51171512.0RegionNote=Binds F-actin
TgeneBAG1chr7:97984353chr9:33262828ENST00000379704074_8235231.0Compositional biasNote=Arg-rich


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Fusion Gene Sequence for BAIAP2L1-BAG1


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.
>8910_8910_1_BAIAP2L1-BAG1_BAIAP2L1_chr7_97984353_ENST00000005260_BAG1_chr9_33262828_ENST00000472232_length(transcript)=3757nt_BP=430nt
CTCCTCTGCTCCTCGAAGAAGGCCAGGGCGGCGCTGCCGCAAGTTTTGACATTTTCGCAGCGGAGACGCGCGCGGGCACTCTCGGGCCGA
CGGCTGCGGCGGCGGCCGACCCTCCAGAGCCCCTTAGTCGCGCCCCGGCCCTCCCGCTGCCCGGAGTCCGGCGGCCACGAGGCCCAGCCG
CGTCCTCCCGCGCTTGCTCGCCCGGCGGCCGCAGCCATGTCCCGGGGGCCCGAGGAGGTGAACCGGCTCACGGAGAGCACCTACCGGAAT
GTTATGGAACAGTTCAATCCTGGGCTGCGAAATTTAATAAACCTGGGGAAAAATTATGAGAAAGCTGTAAACGCTATGATCCTGGCAGGA
AAAGCCTACTACGATGGAGTGGCCAAGATCGGTGAGATTGCCACTGGGTCCCCCGTGTCAACTGAACTGGGCAATGAGAAGCACGACCTT
CATGTTACCTCCCAGCAGGGCAGCAGTGAACCAGTTGTCCAAGACCTGGCCCAGGTTGTTGAAGAGGTCATAGGGGTTCCACAGTCTTTT
CAGAAACTCATATTTAAGGGAAAATCTCTGAAGGAAATGGAAACACCGTTGTCAGCACTTGGAATACAAGATGGTTGCCGGGTCATGTTA
ATTGGGAAAAAGAACAGTCCACAGGAAGAGGTTGAACTAAAGAAGTTGAAACATTTGGAGAAGTCTGTGGAGAAGATAGCTGACCAGCTG
GAAGAGTTGAATAAAGAGCTTACTGGAATCCAGCAGGGTTTTCTGCCCAAGGATTTGCAAGCTGAAGCTCTCTGCAAACTTGATAGGAGA
GTAAAAGCCACAATAGAGCAGTTTATGAAGATCTTGGAGGAGATTGACACACTGATCCTGCCAGAAAATTTCAAAGACAGTAGATTGAAA
AGGAAAGGCTTGGTAAAAAAGGTTCAGGCATTCCTAGCCGAGTGTGACACAGTGGAGCAGAACATCTGCCAGGAGACTGAGCGGCTGCAG
TCTACAAACTTTGCCCTGGCCGAGTGAGGTGTAGCAGAAAAAGGCTGTGCTGCCCTGAAGAATGGCGCCACCAGCTCTGCCGTCTCTGGA
GCGGAATTTACCTGATTTCTTCAGGGCTGCTGGGGGCAACTGGCCATTTGCCAATTTTCCTACTCTCACACTGGTTCTCAATGAAAAATA
GTGTCTTTGTGATTTTGAGTAAAGCTCCTATCTGTTTTCTCCTTCTGTCTCTGTGGTTGTACTGTCCAGCAATCCACCTTTTCTGGAGAG
GGCCACCTCTGCCCAAATTTTCCCAGCTGTTTGGACCTCTGGGTGCTTTCTTTGGGCTGGTGAGAGCTCTAATTTGCCTTGGGCCAGTTT
CAGGTTTATAGGCCCCCTCAGTCTTCAGATACATGAGGGCTTCTTTGCTCTTGTGATCGTGTAGTCCCATAGCTGTAAAACCAGAATCAC
CAGGAGGTTGCACCTAGTCAGGAATATTGGGAATGGCCTAGAACAAGGTGTTTGGCACATAAGTAGACCACTTATCCCTCATTGTGACCT
AATTCCAGAGCATCTGGCTGGGTTGTTGGGTTCTAGACTTTGTCCTCACCTCCCAGTGACCCTGACTAGCCACAGGCCATGAGATACCAG
GGGGCCGTTCCTTGGATGGAGCCTGTGGTTGATGCAAGGCTTCCTTGTCCCCAAGCAAGTCTTCAGAAGGTTAGAACCCAGTGTTGACTG
AGTCTGTGCTTGAAACCAGGCCAGAGCCATGGATTAGGAAGGGCAAAGAGAAGGCACCAGAATGAGTAAAGCAGGCAGGTGGTGAAGCCA
ACCATAAACTTCTCAGGAGTGACATGTGCTTCCTTCAAAGGCATTTTTGTTAACCATATCCTTCTGAGTTCTATGTTTCCTTCACAGCTG
TTCTATCCATTTTGTGGACTGTCCCCCACCCCCACCCCATCATTGTTTTTAAAAAATTAAGGCCTGGCGCAGCAGCTCATGCCTATAATC
CCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCCAGGCAACATAGCAAAACCCCATTCTGCTT
TAAAAAAAAAAAAAAAAAAAATTAGCTTGGCGTAGTGGCATGTGCCTATAATCCCAGCTACTGGGGAGGCTGAGGCACAAGAATCATTTG
AACCTGGGAGGTAGAGGTTGCTGTGAGCCGAGATTACGCCCCTGCACTCCAGCCTGGGTCACAGAGTGAGACTCCATCTCAGAAAAAAAA
AAAATTGAGTCAGGTGCAGTAGCTCCTTCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGGATCACTTGAGCCCAGGAGTTTGAG
TCTAGTCTGGGCAACATAGCAAGACCCCATCTCTAAAATTTAAGTAAGTAAAAGTAGATAAATAAAAAGAAAAAAAAACTGTTTATGTGC
TCATCATAAAGTAGAAGAGTGGTTTGCTTTTTTTTTTTTTTTTGGATTAATGAGGAAATCATTCTGTGGCTCTAGTCATAATTTATGCTT
AATAACATTGATAGTAGCCCTTTGCGCTATAACTCTACCTAAAGACTCACATCATTTGGCAGAGAGAGAGTCGTTGAAGTCCCAGGAATT
CAGGACTGGGCAGGTTAAGACCTCAGACAAGGTAGTAGAGGTAGACTTGTGGACAAGGCTCGGGTCCCAGCCCACCGCACCCCAACTTTA
ATCAGAGTGGTTCACTATTGATCTATTTTTGTGTGATAGCTGTGTGGCGTGGGCCACAACATTTAATGAGAAGTTACTGTGCACCAAACT
GCCGAACACCATTCTAAACTATTCATATATATTAGTCATTTAATTCTTACATAACTTGAGAGGTAGACAGATATCCTTATTTTAGAGATG
AGGAAACCAAGAGAACTTAGGTCATTAGCGCAAGGTTGTAGAGTAAGCGGCAAAGCCAAGACACAAAGCTGGGTGGTTTGGTTTCAGAGC
CAGTGCTTTTCCCCTCTACTGTACTGCCTCTCAACCAACACAGGGTTGCACAGGCCCATTCTCTGATTTTTTTCCTCTTGTCCTCTGCCT
CTCCCTCTAGCTCCCACTTCCTCTCTGCTCTAGTTCATTTTCTTTAGAGCAGCCCGAGTGATCATGAAGTGCAAATCTTGCCATGTCAGT
CCCCTGCTTAGAACCCTCCAATGGCTCACTTTCTCTTTAGGCAAAAGTCTTTACCCCATGCCTTCTCCCATCTCATCTCAACCCCCTCAT
TTGTTGGCTGTCTGCTGTCAGCCACTCTTCTTTCAGGTCCTCAGATGCACTGCACCCTCTCCTGCCTGGGGGTCTTTGCTCCTGCTACTA
CCTCTGCTTGAACAGCTCCTCACCTTCCTTCCTCCAACCCTACCCTTGTATAGGTGACTTTTGTTCATCCTTCAGAATTCAACTCACATG
TCTCTTGCATGGAGAACCCTCACCTACTGTGTTGAGACCCTGTCCAGCCCCCAGGTGGGATCCTCTCTCGACTTCCCATACATTTCTTTC
ACAGCATTTACATAGTCCATGATAGTTTACTTGTGGGATTATTTGGTTAATCTTTGCCTTTAACACCAGGGTTCCTTGGGTGAAGGAGCT
TCTTTATCTTGGTAACAGCATTATTTCAAGCATAACTTGTAATATAGTTATATTACATATATAACATATATATATATAACATAACATATA

>8910_8910_1_BAIAP2L1-BAG1_BAIAP2L1_chr7_97984353_ENST00000005260_BAG1_chr9_33262828_ENST00000472232_length(amino acids)=327AA_BP=132
MPQVLTFSQRRRARALSGRRLRRRPTLQSPLVAPRPSRCPESGGHEAQPRPPALARPAAAAMSRGPEEVNRLTESTYRNVMEQFNPGLRN
LINLGKNYEKAVNAMILAGKAYYDGVAKIGEIATGSPVSTELGNEKHDLHVTSQQGSSEPVVQDLAQVVEEVIGVPQSFQKLIFKGKSLK
EMETPLSALGIQDGCRVMLIGKKNSPQEEVELKKLKHLEKSVEKIADQLEELNKELTGIQQGFLPKDLQAEALCKLDRRVKATIEQFMKI

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Fusion Gene PPI Analysis for BAIAP2L1-BAG1


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
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407172_21935.333333333333336231.0HSPA8
TgeneBAG1chr7:97984353chr9:33262828ENST0000037970407216_34535.333333333333336231.0PPP1R15A


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 BAIAP2L1-BAG1


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 BAIAP2L1-BAG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBAIAP2L1C0003873Rheumatoid Arthritis1CTD_human
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0011570Mental Depression1PSYGENET
TgeneC0011581Depressive disorder1PSYGENET
TgeneC0021367Mammary Ductal Carcinoma1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1134719Invasive Ductal Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human