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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 35940

FusionGeneSummary for SREBF2_ACO2

check button Fusion gene summary
Fusion gene informationFusion gene name: SREBF2_ACO2
Fusion gene ID: 35940
HgeneTgene
Gene symbol

SREBF2

ACO2

Gene ID

6721

50

Gene namesterol regulatory element binding transcription factor 2aconitase 2
SynonymsSREBP-2|SREBP2|bHLHd2ACONM|HEL-S-284|ICRD|OCA8|OPA9
Cytomap

22q13.2

22q13.2

Type of geneprotein-codingprotein-coding
Descriptionsterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2aconitate hydratase, mitochondrialaconitase 2, mitochondrialcitrate hydro-lyaseepididymis secretory sperm binding protein Li 284mitochondrial aconitase
Modification date2018052220180523
UniProtAcc

Q12772

Q99798

Ensembl transtripts involved in fusion geneENST00000361204, ENST00000491541, 
ENST00000216254, ENST00000396512, 
ENST00000466237, 
Fusion gene scores* DoF score19 X 18 X 5=171011 X 9 X 6=594
# samples 2112
** MAII scorelog2(21/1710*10)=-3.02553509210714
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SREBF2 [Title/Abstract] AND ACO2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneSREBF2

GO:0000122

negative regulation of transcription by RNA polymerase II

15358760|19098903

HgeneSREBF2

GO:0010886

positive regulation of cholesterol storage

15358760

HgeneSREBF2

GO:0045944

positive regulation of transcription by RNA polymerase II

12242332|12446768

HgeneSREBF2

GO:0072368

regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter

15358760

HgeneSREBF2

GO:0090370

negative regulation of cholesterol efflux

15358760

TgeneACO2

GO:0006099

tricarboxylic acid cycle

9630632

TgeneACO2

GO:0006101

citrate metabolic process

9630632


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-BH-A0HY-01ASREBF2chr22

42229362

+ACO2chr22

41918834

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000361204ENST00000216254SREBF2chr22

42229362

+ACO2chr22

41918834

+
In-frameENST00000361204ENST00000396512SREBF2chr22

42229362

+ACO2chr22

41918834

+
5CDS-intronENST00000361204ENST00000466237SREBF2chr22

42229362

+ACO2chr22

41918834

+
intron-3CDSENST00000491541ENST00000216254SREBF2chr22

42229362

+ACO2chr22

41918834

+
intron-3CDSENST00000491541ENST00000396512SREBF2chr22

42229362

+ACO2chr22

41918834

+
intron-intronENST00000491541ENST00000466237SREBF2chr22

42229362

+ACO2chr22

41918834

+

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FusionProtFeatures for SREBF2_ACO2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SREBF2

Q12772

ACO2

Q99798

Transcriptional activator required for lipidhomeostasis. Regulates transcription of the LDL receptor gene aswell as the cholesterol and to a lesser degree the fatty acidsynthesis pathway (By similarity). Binds the sterol regulatoryelement 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking regionof the LDRL and HMG-CoA synthase genes. {ECO:0000250}. Catalyzes the isomerization of citrate to isocitrate viacis-aconitate. {ECO:0000250|UniProtKB:P16276}.

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
TgeneACO2chr22:42229362chr22:41918834ENST00000216254+818670_671379781RegionSubstrate binding

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+119125_244291142Compositional biasNote=Gln-rich
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+11952_124291142Compositional biasNote=Gly/Pro/Ser-rich
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+119330_380291142DomainbHLH
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+1191_50291142RegionNote=Transcriptional activation (acidic)
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+119380_401291142RegionNote=Leucine-zipper
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+1191_479291142Topological domainCytoplasmic
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+119501_533291142Topological domainLumenal
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+119555_1139291142Topological domainCytoplasmic
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+119480_500291142TransmembraneHelical
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+119534_554291142TransmembraneHelical
TgeneACO2chr22:42229362chr22:41918834ENST00000216254+818192_194379781RegionSubstrate binding


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FusionGeneSequence for SREBF2_ACO2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_ACO2_ENST00000216254_chr22_41918834_+_431aa
MDDSGELGGLETMETLTELGDELTLGDIDGLIGSCTNSSYEDMGRSAAVAKQALAHGLKCKSQFTITPGSEQIRATIERDGYAQILRDLG
GIVLANACGPCIGQWDRKDIKKGEKNTIVTSYNRNFTGRNDANPETHAFVTSPEIVTALAIAGTLKFNPETDYLTGTDGKKFRLEAPDAD
ELPKGEFDPGQDTYQHPPKDSSGQHVDVSPTSQRLQLLEPFDKWDGKDLEDLQILIKVKGKCTTDHISAAGPWLKFRGHLDNISNNLLIG
AINIENGKANSVRNAVTQEFGPVPDTARYYKKHGIRWVVIGDENYGEGSSREHAALEPRHLGGRAIITKSFARIHETNLKKQGLLPLTFA

>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_ACO2_ENST00000396512_chr22_41918834_+_431aa
MDDSGELGGLETMETLTELGDELTLGDIDGLIGSCTNSSYEDMGRSAAVAKQALAHGLKCKSQFTITPGSEQIRATIERDGYAQILRDLG
GIVLANACGPCIGQWDRKDIKKGEKNTIVTSYNRNFTGRNDANPETHAFVTSPEIVTALAIAGTLKFNPETDYLTGTDGKKFRLEAPDAD
ELPKGEFDPGQDTYQHPPKDSSGQHVDVSPTSQRLQLLEPFDKWDGKDLEDLQILIKVKGKCTTDHISAAGPWLKFRGHLDNISNNLLIG
AINIENGKANSVRNAVTQEFGPVPDTARYYKKHGIRWVVIGDENYGEGSSREHAALEPRHLGGRAIITKSFARIHETNLKKQGLLPLTFA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_ACO2_ENST00000216254_chr22_41918834_+_1293nt
ATGGACGACAGCGGCGAGCTGGGTGGTCTGGAGACCATGGAGACCCTCACGGAGCTGGGCGACGAGCTGACCCTGGGAGACATCGACGGT
CTAATTGGTAGCTGCACCAATTCAAGCTATGAAGATATGGGGCGCTCAGCAGCTGTGGCCAAGCAGGCACTGGCCCATGGCCTCAAGTGC
AAGTCCCAGTTCACCATCACTCCAGGTTCCGAGCAGATCCGCGCCACCATTGAGCGGGACGGCTATGCACAGATCTTGAGGGATCTGGGT
GGCATTGTCCTGGCCAATGCTTGTGGCCCCTGCATTGGCCAGTGGGACAGGAAGGACATCAAGAAGGGGGAGAAGAACACAATCGTCACC
TCCTACAACAGGAACTTCACGGGCCGCAACGACGCAAACCCCGAGACCCATGCCTTTGTCACGTCCCCAGAGATTGTCACAGCCCTGGCC
ATTGCGGGAACCCTCAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAGGCTCCGGATGCAGAT
GAGCTTCCCAAAGGGGAGTTTGACCCAGGGCAGGACACCTACCAGCACCCACCCAAGGACAGCAGCGGGCAGCATGTGGACGTGAGCCCC
ACCAGCCAGCGCCTGCAGCTCCTGGAGCCTTTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAAAGGG
AAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGT
GCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTAC
AAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCAC
CTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCT
GACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGCCCCTGAAGTGC
ATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGT

>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_ACO2_ENST00000396512_chr22_41918834_+_1293nt
ATGGACGACAGCGGCGAGCTGGGTGGTCTGGAGACCATGGAGACCCTCACGGAGCTGGGCGACGAGCTGACCCTGGGAGACATCGACGGT
CTAATTGGTAGCTGCACCAATTCAAGCTATGAAGATATGGGGCGCTCAGCAGCTGTGGCCAAGCAGGCACTGGCCCATGGCCTCAAGTGC
AAGTCCCAGTTCACCATCACTCCAGGTTCCGAGCAGATCCGCGCCACCATTGAGCGGGACGGCTATGCACAGATCTTGAGGGATCTGGGT
GGCATTGTCCTGGCCAATGCTTGTGGCCCCTGCATTGGCCAGTGGGACAGGAAGGACATCAAGAAGGGGGAGAAGAACACAATCGTCACC
TCCTACAACAGGAACTTCACGGGCCGCAACGACGCAAACCCCGAGACCCATGCCTTTGTCACGTCCCCAGAGATTGTCACAGCCCTGGCC
ATTGCGGGAACCCTCAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAGGCTCCGGATGCAGAT
GAGCTTCCCAAAGGGGAGTTTGACCCAGGGCAGGACACCTACCAGCACCCACCCAAGGACAGCAGCGGGCAGCATGTGGACGTGAGCCCC
ACCAGCCAGCGCCTGCAGCTCCTGGAGCCTTTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAAAGGG
AAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGT
GCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTAC
AAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCAC
CTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCT
GACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGCCCCTGAAGTGC
ATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGT


* Fusion transcript sequences (Full-length transcript).
>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_ACO2_ENST00000216254_chr22_41918834_+_1835nt
CTTTCTGTGCGGCGCCCGGGCGCAACGCAAACATGGCGGCGGGTGGCACCCGTCGGTGAGGCGGTGCCGGGCGGGGGTTGTCGGGTGTCA
TGGGCGGTGGCGACGGCACCGCCCCCGCGTCTCCCTGAGCGGGACGGCAGGGGGGGCTTCTGCGCTGAGCCGGGCGATGGACGACAGCGG
CGAGCTGGGTGGTCTGGAGACCATGGAGACCCTCACGGAGCTGGGCGACGAGCTGACCCTGGGAGACATCGACGGTCTAATTGGTAGCTG
CACCAATTCAAGCTATGAAGATATGGGGCGCTCAGCAGCTGTGGCCAAGCAGGCACTGGCCCATGGCCTCAAGTGCAAGTCCCAGTTCAC
CATCACTCCAGGTTCCGAGCAGATCCGCGCCACCATTGAGCGGGACGGCTATGCACAGATCTTGAGGGATCTGGGTGGCATTGTCCTGGC
CAATGCTTGTGGCCCCTGCATTGGCCAGTGGGACAGGAAGGACATCAAGAAGGGGGAGAAGAACACAATCGTCACCTCCTACAACAGGAA
CTTCACGGGCCGCAACGACGCAAACCCCGAGACCCATGCCTTTGTCACGTCCCCAGAGATTGTCACAGCCCTGGCCATTGCGGGAACCCT
CAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAGGCTCCGGATGCAGATGAGCTTCCCAAAGG
GGAGTTTGACCCAGGGCAGGACACCTACCAGCACCCACCCAAGGACAGCAGCGGGCAGCATGTGGACGTGAGCCCCACCAGCCAGCGCCT
GCAGCTCCTGGAGCCTTTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAAAGGGAAGTGTACCACTGA
CCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGA
AAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGAAACATGGCAT
CAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGC
CATCATCACCAAGAGCTTTGCCAGGATCCACGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTA
CAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGCCCCTGAAGTGCATCATCAAGCACCC
CAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAAT
GAAGGAACTGCAACAGTGAGGGCAGTGCCTCCCCGCCCCGCCGCTGGCGTCAAGTTCAGCTCCACGTGTGCCATCAGTGGATCCGATCCG
TCCAGCCATGGCTTCCTATTCCAAGATGGTGTGACCAGACATGCTTCCTGCTCCCCGCTTAGCCCACGGAGTGACTGTGGTTGTGGTGGG
GGGGTTCTTAAAATAACTTTTTAGCCCCCGTCTTCCTATTTTGAGTTTGGTTCAGATCTTAAGCAGCTCCATGCAACTGTATTTATTTTT
GATGACAAGACTCCCATCTAAAGTTTTTCTCCTGCCTGATCATTTCATTGGTGGCTGAAGGATTCTAGAGAACCTTTTGTTCTTGCAAGG

>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_ACO2_ENST00000396512_chr22_41918834_+_1835nt
CTTTCTGTGCGGCGCCCGGGCGCAACGCAAACATGGCGGCGGGTGGCACCCGTCGGTGAGGCGGTGCCGGGCGGGGGTTGTCGGGTGTCA
TGGGCGGTGGCGACGGCACCGCCCCCGCGTCTCCCTGAGCGGGACGGCAGGGGGGGCTTCTGCGCTGAGCCGGGCGATGGACGACAGCGG
CGAGCTGGGTGGTCTGGAGACCATGGAGACCCTCACGGAGCTGGGCGACGAGCTGACCCTGGGAGACATCGACGGTCTAATTGGTAGCTG
CACCAATTCAAGCTATGAAGATATGGGGCGCTCAGCAGCTGTGGCCAAGCAGGCACTGGCCCATGGCCTCAAGTGCAAGTCCCAGTTCAC
CATCACTCCAGGTTCCGAGCAGATCCGCGCCACCATTGAGCGGGACGGCTATGCACAGATCTTGAGGGATCTGGGTGGCATTGTCCTGGC
CAATGCTTGTGGCCCCTGCATTGGCCAGTGGGACAGGAAGGACATCAAGAAGGGGGAGAAGAACACAATCGTCACCTCCTACAACAGGAA
CTTCACGGGCCGCAACGACGCAAACCCCGAGACCCATGCCTTTGTCACGTCCCCAGAGATTGTCACAGCCCTGGCCATTGCGGGAACCCT
CAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAGGCTCCGGATGCAGATGAGCTTCCCAAAGG
GGAGTTTGACCCAGGGCAGGACACCTACCAGCACCCACCCAAGGACAGCAGCGGGCAGCATGTGGACGTGAGCCCCACCAGCCAGCGCCT
GCAGCTCCTGGAGCCTTTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAAAGGGAAGTGTACCACTGA
CCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGA
AAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGAAACATGGCAT
CAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGC
CATCATCACCAAGAGCTTTGCCAGGATCCACGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTA
CAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGCCCCTGAAGTGCATCATCAAGCACCC
CAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAAT
GAAGGAACTGCAACAGTGAGGGCAGTGCCTCCCCGCCCCGCCGCTGGCGTCAAGTTCAGCTCCACGTGTGCCATCAGTGGATCCGATCCG
TCCAGCCATGGCTTCCTATTCCAAGATGGTGTGACCAGACATGCTTCCTGCTCCCCGCTTAGCCCACGGAGTGACTGTGGTTGTGGTGGG
GGGGTTCTTAAAATAACTTTTTAGCCCCCGTCTTCCTATTTTGAGTTTGGTTCAGATCTTAAGCAGCTCCATGCAACTGTATTTATTTTT
GATGACAAGACTCCCATCTAAAGTTTTTCTCCTGCCTGATCATTTCATTGGTGGCTGAAGGATTCTAGAGAACCTTTTGTTCTTGCAAGG


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FusionGenePPI for SREBF2_ACO2


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
SREBF2INSIG1, UBE2I, CREBBP, EP300, KPNB1, SREBF2, SP1, CASP3, MAPK3, MAPK1, ARRB1, EGR1, FHL3, GOLGB1, HSPA5, ITGB4, ABLIM1, NFYA, PSMD4, ATXN1, SPTBN1, NFYC, CREB1, TTC1, ZMYM2, ZYX, PIAS1, SLC4A4, PIAS2, ARHGEF1, CASP8AP2, PIAS3, OS9, COPS5, ZDHHC17, ATF7IP, ABLIM2, LZTR1, KLF13, ATF6, HNF4A, SMAD3, RNF139, HINFP, NPAT, TRRAP, SREBF1, SCAP, PARK7, NAE1, MRPS6, ERLIN2, HDAC3, SPINT2, HLA-DPA1, NRG1, CGRRF1, PTH1R, SLC39A4, AURKA, CDH5, ZNRF4, TMCO3, DKK3, CHRND, IL17RC, CD79B, SLC4A8, SLC39A12, MTNR1BACO2SRRM2, PSMD4, ATXN1L, APP, AK3, ACAT1, SIN3A, ACAA2, VCAM1, ITGA4, ASB9, CKB, IDH3A, IDH3G, MYH7B, SOD2, ALDH5A1, ALDOA, ALDOC, ATP1B1, ATP5F1, ATP5J, ESD, GPD1, GPD1L, GPD2, PITPNB, VAPA, NTRK1, SOD1, TRIM25


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
HgeneSREBF2chr22:42229362chr22:41918834ENST00000361204+119237_491291142LMNA


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


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RelatedDrugs for SREBF2_ACO2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SREBF2_ACO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSREBF2C0021655Insulin Resistance1CTD_human
HgeneSREBF2C0022661Kidney Failure, Chronic1CTD_human
HgeneSREBF2C0036341Schizophrenia1PSYGENET
HgeneSREBF2C0038356Stomach Neoplasms1CTD_human
HgeneSREBF2C2239176Liver carcinoma1CTD_human
TgeneACO2C3281192INFANTILE CEREBELLAR-RETINAL DEGENERATION2ORPHANET;UNIPROT
TgeneACO2C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneACO2C2239176Liver carcinoma1CTD_human
TgeneACO2C4225384OPTIC ATROPHY 91UNIPROT