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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:ACBD6-IVNS1ABP (FusionGDB2 ID:HG84320TG10625)

Fusion Gene Summary for ACBD6-IVNS1ABP

check button Fusion gene summary
Fusion gene informationFusion gene name: ACBD6-IVNS1ABP
Fusion gene ID: hg84320tg10625
HgeneTgene
Gene symbol

ACBD6

IVNS1ABP

Gene ID

84320

10625

Gene nameacyl-CoA binding domain containing 6influenza virus NS1A binding protein
Synonyms-ARA3|FLARA3|HSPC068|KLHL39|ND1|NS-1|NS1-BP|NS1BP
Cytomap('ACBD6')('IVNS1ABP')

1q25.2-q25.3

1q25.3

Type of geneprotein-codingprotein-coding
Descriptionacyl-CoA-binding domain-containing protein 6acyl-Coenzyme A binding domain containing 6influenza virus NS1A-binding proteinNCX downstream gene 1NS1-binding proteinaryl hydrocarbon receptor-associated 3aryl hydrocarbon receptor-associated protein 3kelch-like family member 39kelch-like protein 39
Modification date2020031320200320
UniProtAcc

Q9BR61

.
Ensembl transtripts involved in fusion geneENST00000367595, ENST00000475338, 
Fusion gene scores* DoF score11 X 9 X 7=69317 X 9 X 9=1377
# samples 1118
** MAII scorelog2(11/693*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1377*10)=-2.93545974780529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACBD6 [Title/Abstract] AND IVNS1ABP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACBD6(180366651)-IVNS1ABP(185274775), # samples:3
Anticipated loss of major functional domain due to fusion event.ACBD6-IVNS1ABP 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.
ACBD6-IVNS1ABP 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.
ACBD6-IVNS1ABP 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.
ACBD6-IVNS1ABP 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 ACBD6 (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 IVNS1ABP (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
ChimerDB4BRCATCGA-A2-A1FW-01AACBD6chr1

180366651

-IVNS1ABPchr1

185274775

-


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Fusion Gene ORF analysis for ACBD6-IVNS1ABP

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-5UTRENST00000367595ENST00000392007ACBD6chr1

180366651

-IVNS1ABPchr1

185274775

-
5CDS-5UTRENST00000367595ENST00000459929ACBD6chr1

180366651

-IVNS1ABPchr1

185274775

-
5CDS-intronENST00000367595ENST00000367497ACBD6chr1

180366651

-IVNS1ABPchr1

185274775

-
5UTR-3CDSENST00000475338ENST00000367498ACBD6chr1

180366651

-IVNS1ABPchr1

185274775

-
5UTR-5UTRENST00000475338ENST00000392007ACBD6chr1

180366651

-IVNS1ABPchr1

185274775

-
5UTR-5UTRENST00000475338ENST00000459929ACBD6chr1

180366651

-IVNS1ABPchr1

185274775

-
5UTR-intronENST00000475338ENST00000367497ACBD6chr1

180366651

-IVNS1ABPchr1

185274775

-
In-frameENST00000367595ENST00000367498ACBD6chr1

180366651

-IVNS1ABPchr1

185274775

-

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)
ENST00000367595ACBD6chr1180366651-ENST00000367498IVNS1ABPchr1185274775-427013515622622686

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
ENST00000367595ENST00000367498ACBD6chr1180366651-IVNS1ABPchr1185274775-0.0009838970.99901605

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Fusion Genomic Features for ACBD6-IVNS1ABP


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 ACBD6-IVNS1ABP


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/chr1:180366651/chr1:185274775)
- 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
ACBD6

Q9BR61

.
FUNCTION: Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. {ECO:0000269|PubMed:18268358}.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
HgeneACBD6chr1:180366651chr1:185274775ENST00000367595-6842_127221283.0DomainACB
HgeneACBD6chr1:180366651chr1:185274775ENST00000367595-6869_73221283.0RegionAcyl-CoA binding
HgeneACBD6chr1:180366651chr1:185274775ENST00000367595-68191_220221283.0RepeatNote=ANK 1
TgeneIVNS1ABPchr1:180366651chr1:185274775ENST00000367498615369_415219643.0RepeatNote=Kelch 1
TgeneIVNS1ABPchr1:180366651chr1:185274775ENST00000367498615416_463219643.0RepeatNote=Kelch 2
TgeneIVNS1ABPchr1:180366651chr1:185274775ENST00000367498615465_512219643.0RepeatNote=Kelch 3
TgeneIVNS1ABPchr1:180366651chr1:185274775ENST00000367498615513_559219643.0RepeatNote=Kelch 4
TgeneIVNS1ABPchr1:180366651chr1:185274775ENST00000367498615560_606219643.0RepeatNote=Kelch 5
TgeneIVNS1ABPchr1:180366651chr1:185274775ENST00000367498615608_642219643.0RepeatNote=Kelch 6

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACBD6chr1:180366651chr1:185274775ENST00000367595-68224_253221283.0RepeatNote=ANK 2
TgeneIVNS1ABPchr1:180366651chr1:185274775ENST00000367498615134_233219643.0DomainNote=BACK
TgeneIVNS1ABPchr1:180366651chr1:185274775ENST0000036749861532_99219643.0DomainBTB


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Fusion Gene Sequence for ACBD6-IVNS1ABP


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.
>1266_1266_1_ACBD6-IVNS1ABP_ACBD6_chr1_180366651_ENST00000367595_IVNS1ABP_chr1_185274775_ENST00000367498_length(transcript)=4270nt_BP=1351nt
GGGCTGTTTGGAGGCGCTTGGGGCGCACAATCTGGGGCAGGCGGAACCTTAGTCCTCAGCCTCGCGTTTCCCGCGACTCCGCTCTCACCG
CTACACTACCACACAAACGGCCTCCTTCCCCCACCCCCGGGGGCCCATCCCGGTGGCGGGCTCCGGAGCTCGGGACTGCTAATTTCAGCG
AAACGATTAAAAGACGCCCCTACAGCTGACGGCACTTTCTCTCCTCCGGCAGGGAAGGACGTCCAGCGTAGCGTCGCCCGCGCTTCCCCG
CCGGCGCAGAGCAGGCCTCACAGAATCGCACGCCGCTGGCACGCACGCCGCCCCGCCCCCACGGCCCAGCGCCAGCCGCGCCCCGCGCTC
GCACGCATCCCGGCCTCACTGCCCCTCGACTCCTGTTCCGTTGGAGGGGCCTGAGGCGAGCCTGAGCGCGCTGTTGGCCGGAGGGAAGCC
GGAGGAGACCGGGTCGACTGGGCAGAGCGGCAGAGGGTCGAGGAGCCTGCTCTGCACGCCCAGGGAGTAGAAGTGGGCAGGGAGCAGGGT
CACGTGAGGGAGCGCGCCGCGACTGAGCTTGGGTCCGACTGGAGCTCAGGCTCGCGACCCAGACTGGTGGGCCAGGCCTCCAAGCCGGCC
TTACACCCAATCCAAGGAGGACAGACCGGACACAGAGGGACGGAGCGAGCAAGGAGACATGGCTTCATCATTCCTGCCCGCGGGGGCCAT
CACCGGCGACAGCGGTGGAGAGCTGAGCTCAGGGGACGACTCCGGGGAGGTGGAGTTCCCCCATAGCCCTGAGATCGAGGAGACCAGTTG
CCTGGCCGAGCTGTTTGAGAAGGCTGCCGCGCACCTGCAAGGCCTGATTCAGGTGGCCAGCAGGGAGCAGCTCTTGTACCTGTATGCCAG
GTACAAACAGGTCAAAGTTGGAAATTGTAATACTCCTAAACCAAGCTTCTTTGATTTTGAAGGAAAGCAAAAATGGGAAGCTTGGAAAGC
ACTTGGTGATTCAAGCCCCAGCCAAGCAATGCAGGAATATATCGCAGTAGTTAAAAAACTAGATCCAGGTTGGAATCCTCAGATACCAGA
GAAGAAAGGAAAAGAAGCAAATACAGGTTTTGGTGGGCCAGTTATTAGTTCTCTATATCATGAAGAAACCATCAGGGAAGAAGACAAAAA
TATATTTGATTACTGCAGGGAAAACAACATTGACCATATAACCAAAGCCATCAAATCGAAAAATGTGGATGTGAATGTGAAAGATGAAGA
GGGTAGGGCTCTACTTCACTGGGCCTGTGATCGAGGACATAAGGAACTAGTCACAGTGTTGCTGCAACATAGAGCTGACATTAACTGTCA
GGTTCAAACCTTGTACTACTCAGCTGATCACAAGCTGCTTGATGGGAACCTACTAGATGGACAGGCTGAGGTGTTTGGCAGTGATGATGA
CCACATTCAGTTTGTGCAGAAAAAGCCACCACGTGAGAATGGCCATAAGCAGATAAGTAGCAGTTCAACTGGATGTCTCTCTTCTCCAAA
TGCTACAGTACAAAGCCCTAAGCATGAGTGGAAAATCGTTGCTTCAGAAAAGACTTCAAATAACACTTACTTGTGCCTGGCTGTGCTGGA
TGGTATATTCTGTGTCATTTTTCTTCATGGGAGAAACAGCCCACAGAGCTCACCAACAAGTACTCCAAAACTAAGTAAGAGTTTAAGCTT
TGAGATGCAACAAGATGAGCTAATCGAAAAGCCCATGTCTCCTATGCAGTACGCACGATCTGGTCTGGGAACAGCAGAGATGAATGGCAA
ACTCATAGCTGCAGGTGGCTATAACAGAGAGGAATGTCTTCGAACAGTCGAATGCTATAATCCACATACAGATCACTGGTCCTTTCTTGC
TCCCATGAGAACACCAAGAGCCCGATTTCAAATGGCTGTACTCATGGGCCAGCTCTATGTGGTAGGTGGATCAAATGGCCACTCAGATGA
CCTGAGTTGTGGAGAGATGTATGATTCAAACATAGATGACTGGATTCCTGTTCCAGAATTGAGAACTAACCGTTGTAATGCAGGAGTGTG
TGCTCTGAATGGAAAGTTATACATCGTTGGTGGCTCTGATCCATATGGTCAAAAAGGACTGAAAAATTGTGATGTATTTGATCCTGTAAC
AAAGTTGTGGACAAGCTGTGCCCCTCTTAACATTCGGAGACACCAGTCTGCAGTCTGTGAGCTTGGTGGTTATTTGTACATAATCGGAGG
TGCAGAATCTTGGAATTGTCTGAACACAGTAGAACGATACAATCCTGAAAATAATACCTGGACTTTAATTGCACCCATGAATGTGGCTAG
GCGAGGAGCTGGAGTGGCTGTTCTTAATGGAAAACTGTTTGTATGTGGTGGCTTTGATGGTTCTCATGCCATCAGTTGTGTGGAAATGTA
TGATCCAACTAGAAATGAATGGAAGATGATGGGAAATATGACTTCACCAAGGAGCAATGCTGGGATTGCAACTGTAGGGAACACCATTTA
TGCAGTGGGAGGATTCGATGGCAATGAATTTCTGAATACGGTGGAAGTCTATAACCTTGAGTCAAATGAATGGAGCCCCTATACAAAGAT
TTTCCAGTTTTAACAAATTTAAGACCCTCTCAAACTAACAGGCTTAGTGATGTAATTATGGTTAGTAGAGGTACACTTGTGAATAAAGAG
GGTGGGTGGGTATAGATGTTGCTAACAGCAACACAAAGCTTTTGCATATTGCATACTATTAAACATGCTGTACATACTTTTTGGGTTTAT
TTGGAAAGGAATGCAAAGATGAAGGTCTGTTTTGTGTACTTTTAAGACTTTGGTTATTTTACTTTTTGGAAAAGAATAAACCAAGAATTG
ATTGGGCACATCATTTCAAGAAGTCCCCTCTCCTCCACATTTGTTTTGCCAATTTGCACATTAAATGACTCTTCCCTCAAATGTGTACTA
TGGGGTAAAAGGGGTAGGGTTTAAAGATGTAGACAGTTGGGTTTTTTAAGGGCCCTTTTTCAATAACTGGAACACTCTATAACAAAGGAT
ACTTATTTAAATAGATGACATTGACTATTTTTGTTTTTATTAAAAGGAAGCTTACATGCCTACCAATATTTAATCTTTTATGATTGCCTT
TTTATAACTTTTTATATTCTCAGCAGAGTGCTTTACCAATTGAAGTAAAATGTGGCAGGCTGGAGTTATTGAAGCAGAGTGGCAGTCTTC
AGTTTGCAGAGTAGGGGTCTGTCTTTTAAACTCTGAGTGCAAACTTCAGAGTTCTTGCCTTGGCTGCAGTTTTTTTCCTTCAAGAATGCA
GTACTAACATTTATTTGAGTGGAGTTACTGAACAGTAACATAGCTGTGATTTTTGGTATTTGAAACACTGGTTTTAAATATTTTGACTTG
TTGAGGGTATGTTTTATATAGCAAGACATTATATAGCAGTAAAAAATGGTGTTTTATCTTCTATATAATTCCTGTTTTTATTATTAACAA
AACAGTCCTAAATAGCAGCCCTCAATTGTGAAAAAATTTACTTTAAACTACATTAGGTTGTGAATGCAGGTTTTATCAGAACTATGTTTT
TGTTCAGTTTATCTGTTCATATGGATAAATATTGGTTGGGATGACTTGGTGTCTAATGTGTAGTGCTACACACCTAACTTATGGGGCCAA
AATAGCATGTCCTAATGCTTGCTGCTGATTTAAACACATTAAAGGTACTTTGCAGGAAATCCTTGCACCATGGGATTAATATCCAATTGC
TGCTTGTACACTCATTCATTACTAAAAGTTTTGAGAAATTTTTTTTTCCAGTAATGAGCTTAAGAAATTTGTGGAAAATAACTCACCTGG
CATCTTACATCTGAAATAAGGAATGATATAAGGTTTTTTTTTCTCACAGAAGATGAAGCACACAGGAACCTAATGGGCCAACTGGGATGA
GGTGACTATTCTGAGATGACTATTCAGTGGCTAACTTGGGTTAGGAAGAAAATAATTAGGTATTTTCTCCAAATGTTCACTGGTACTCTG
CCACTTTATTTCTCTCATCTGTTACACAAAGAACCACCAGGAAAGCAAATCAGTTTGGTTGGTAACTCTGTAATTCCTAACTATCACTGG
TTTGGTTCTGGACTAAAACTACATTGACAGATTGAATTTGCCTAATATGATGACTGTTTTTAATATGGATCTGTATGTGTTCTATTCAGC

>1266_1266_1_ACBD6-IVNS1ABP_ACBD6_chr1_180366651_ENST00000367595_IVNS1ABP_chr1_185274775_ENST00000367498_length(amino acids)=686AA_BP=262
MSLGPTGAQARDPDWWARPPSRPYTQSKEDRPDTEGRSEQGDMASSFLPAGAITGDSGGELSSGDDSGEVEFPHSPEIEETSCLAELFEK
AAAHLQGLIQVASREQLLYLYARYKQVKVGNCNTPKPSFFDFEGKQKWEAWKALGDSSPSQAMQEYIAVVKKLDPGWNPQIPEKKGKEAN
TGFGGPVISSLYHEETIREEDKNIFDYCRENNIDHITKAIKSKNVDVNVKDEEGRALLHWACDRGHKELVTVLLQHRADINCQVQTLYYS
ADHKLLDGNLLDGQAEVFGSDDDHIQFVQKKPPRENGHKQISSSSTGCLSSPNATVQSPKHEWKIVASEKTSNNTYLCLAVLDGIFCVIF
LHGRNSPQSSPTSTPKLSKSLSFEMQQDELIEKPMSPMQYARSGLGTAEMNGKLIAAGGYNREECLRTVECYNPHTDHWSFLAPMRTPRA
RFQMAVLMGQLYVVGGSNGHSDDLSCGEMYDSNIDDWIPVPELRTNRCNAGVCALNGKLYIVGGSDPYGQKGLKNCDVFDPVTKLWTSCA
PLNIRRHQSAVCELGGYLYIIGGAESWNCLNTVERYNPENNTWTLIAPMNVARRGAGVAVLNGKLFVCGGFDGSHAISCVEMYDPTRNEW

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Fusion Gene PPI Analysis for ACBD6-IVNS1ABP


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 ACBD6-IVNS1ABP


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 ACBD6-IVNS1ABP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACBD6C0020796Profound Mental Retardation1CTD_human
HgeneACBD6C0025363Mental Retardation, Psychosocial1CTD_human
HgeneACBD6C0917816Mental deficiency1CTD_human
HgeneACBD6C3714756Intellectual Disability1CTD_human;GENOMICS_ENGLAND
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human