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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: 21287

FusionGeneSummary for MCL1_AR

check button Fusion gene summary
Fusion gene informationFusion gene name: MCL1_AR
Fusion gene ID: 21287
HgeneTgene
Gene symbol

MCL1

AR

Gene ID

4170

374

Gene nameMCL1, BCL2 family apoptosis regulatoramphiregulin
SynonymsBCL2L3|EAT|MCL1-ES|MCL1L|MCL1S|Mcl-1|TM|bcl2-L-3|mcl1/EATAR|AREGB|CRDGF|SDGF
Cytomap

1q21.2

4q13.3

Type of geneprotein-codingprotein-coding
Descriptioninduced myeloid leukemia cell differentiation protein Mcl-1BCL2 family apoptosis regulatorbcl-2-like protein 3bcl-2-related protein EAT/mcl1myeloid cell leukemia 1myeloid cell leukemia ESmyeloid cell leukemia sequence 1 (BCL2-related)amphiregulinamphiregulin Bcolorectum cell-derived growth factorschwannoma-derived growth factor
Modification date2018052720180523
UniProtAcc

Q07820

P10275

Ensembl transtripts involved in fusion geneENST00000369026, ENST00000464132, 
ENST00000307940, 		ENST00000374690, 
ENST00000513847, ENST00000504326, 
ENST00000396044, ENST00000396043, 
Fusion gene scores* DoF score8 X 8 X 5=3206 X 4 X 5=120
# samples 136
** MAII scorelog2(13/320*10)=-1.29956028185891
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MCL1 [Title/Abstract] AND AR [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
HgeneMCL1

GO:0034097

response to cytokine

9184696

HgeneMCL1

GO:0043066

negative regulation of apoptotic process

20041405

TgeneAR

GO:0007173

epidermal growth factor receptor signaling pathway

12743035

TgeneAR

GO:0007186

G-protein coupled receptor signaling pathway

12743035


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
TCGARVPRADTCGA-HC-8265-01AMCL1chr1

150547032

-ARchrX

66914515

+
* 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
5CDS-intronENST00000369026ENST00000374690MCL1chr1

150547032

-ARchrX

66914515

+
5CDS-intronENST00000369026ENST00000513847MCL1chr1

150547032

-ARchrX

66914515

+
5CDS-intronENST00000369026ENST00000504326MCL1chr1

150547032

-ARchrX

66914515

+
5CDS-intronENST00000369026ENST00000396044MCL1chr1

150547032

-ARchrX

66914515

+
5CDS-intronENST00000369026ENST00000396043MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000464132ENST00000374690MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000464132ENST00000513847MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000464132ENST00000504326MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000464132ENST00000396044MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000464132ENST00000396043MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000307940ENST00000374690MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000307940ENST00000513847MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000307940ENST00000504326MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000307940ENST00000396044MCL1chr1

150547032

-ARchrX

66914515

+
intron-intronENST00000307940ENST00000396043MCL1chr1

150547032

-ARchrX

66914515

+

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FusionProtFeatures for MCL1_AR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MCL1

Q07820

AR

P10275

Steroid hormone receptors are ligand-activatedtranscription factors that regulate eukaryotic gene expression andaffect cellular proliferation and differentiation in targettissues. Transcription factor activity is modulated by boundcoactivator and corepressor proteins. Transcription activation isdown-regulated by NR0B2. Activated, but not phosphorylated, byHIPK3 and ZIPK/DAPK3. {ECO:0000269|PubMed:14664718,ECO:0000269|PubMed:15563469, ECO:0000269|PubMed:17591767,ECO:0000269|PubMed:17911242, ECO:0000269|PubMed:18084323,ECO:0000269|PubMed:19345326, ECO:0000269|PubMed:20980437,ECO:0000269|PubMed:25091737}. Isoform 3 and isoform 4 lack the C-terminal ligand-binding domain and may therefore constitutively activate thetranscription of a specific set of genes independently of steroidhormones. {ECO:0000269|PubMed:19244107}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MCL1_AR


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MCL1_AR


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
MCL1BAD, BOK, BMF, BIK, HRK, BID, BCL2L11, BBC3, PMAIP1, BAK1, CASP3, VDAC1, MCL1, BAX, BCL2L1, PCNA, TNKS, DAD1, MAPK10, PIN1, HUWE1, USP9X, UHRF2, MYC, HSPA4, HSPA8, ATG12, BTRC, CAV1, BAG3, HSPA1A, BAG4, LYN, BECN1, AGO2, TP53, PARK2, PINK1, TPT1, TRAF6, FBXW7, NXF1, EDNRA, PRKAG1, STARD9, CPT2, PRKAB1, PRKAB2, ASPRV1, FLG, PRKAA1, TRIM11, ECM1, SERPINB7, UNK, UBXN6, DUSP22, EDEM2, ARG1, RANBP6, C5AR2, HSP90AA1, CUL1, SKP1ARGNB2L1, FLNA, RAN, NR2C2, NCOA3, RNF4, NCOA4, PAK6, RANBP9, RCHY1, PIAS2, HNF4A, AKT1, IL6ST, CALM1, RAD9A, SMAD3, NCOA6, CTNNB1, CCNH, CDK7, AR, DAXX, STAT3, SP1, GSK3B, GSN, SELENBP1, HSPA1A, HSP90AA1, UXT, CAV1, JUN, PRKDC, XRCC5, XRCC6, BAG1, CREBBP, NCOA1, NCOR1, NCOR2, NCOA2, CCND1, FOXO1, FOXA1, RNF14, DCC, MAGEA11, SRC, PTEN, RB1, BRCA1, ZMIZ1, TP53, TGFB1I1, MAPK1, EGFR, GSK3A, KAT7, NR2C1, GRIP1, PELP1, SART3, HDAC3, HDAC4, TDG, PSPC1, NONO, EFCAB6, KAT5, HDAC1, CDK9, NSD1, YWHAQ, PRMT1, TSG101, COX5B, RAF1, NR0B2, POU2F1, POU2F2, DAP3, CEBPA, CEBPB, SVIL, AES, FHL2, CDC37, PIAS4, NR0B1, TMF1, SRY, CCNE1, UBE2I, SMAD4, CALR, SPDEF, PATZ1, ETV5, PA2G4, PIAS1, PIAS3, HMGB1, HMGB2, PRPF6, TRIM24, GTF2F1, GTF2F2, TBP, GTF2H1, MED1, GAPDH, CDC25B, PMEPA1, SMARCA4, SMARCC1, TRIM68, HSPB2, MDM2, WHSC1, MDN1, NLRP10, SMARCA2, ZBTB16, MED24, DENND5A, ZBTB1, MED12L, SMARCD1, SPOP, MLH3, KIFAP3, PHB, SIRT1, HDAC7, ZNF318, SMARCE1, RAD54L2, EP300, ZMIZ2, TGIF1, SREBF1, RUVBL1, KDM5B, SFPQ, GADD45GIP1, ERG, KDM4A, KDM4D, RREB1, SRCAP, TADA3, USP26, RNF6, NELFCD, STUB1, REPS2, KIF1A, RNF40, RNF20, ERCC3, ERCC2, GTF2H2, GTF2H3, CHD8, SETD7, ZBTB7A, E2F1, E2F4, PSMC3, LCOR, LATS2, ZNF451, COPS2, USP10, TAF1, TNK2, DDB2, PAX6, ARID5A, WDR77, TCF20, DCAF6, FKBP5, FKBP4, PPP5C, DNAJC7, PPID, ZBTB32, TAB2, TBL1XR1, SIN3A, SIN3B, PARK7, UBE3A, KDM3A, APPL1, SIAH2, ACTB, JMJD1C, SMAD1, VHL, CUL2, PTGES3, RBL1, USP12, SKP2, REL, WIPI1, NDE1, VCP, DAPK3, AATF, TTC5, KAT2B, IFI16, EZH2, SUZ12, EED, RNF2, BMI1, RELA, PRKG1, MID1, TCF7L2, ELF3, IDE, CDK6, ETS1, KLK3, USP7, HOTAIR, PPP1CA, AHR, WDR20, WDR48, PRPF8, PPP2CA, CACUL1, KDM1A, USP14, SMARCC2, TLE3, GSE1, ARID1A, ARID1B, BCOR, SMARCB1, KMT2D, CHD7, RCOR1, DPF1, RAI1, TFAP2A, PPP2R2A, DPF2, ARID3B, CNBP, ARID5B, NEFL, RPS21, SPATS2L, RCC2, DDX19A, KARS, SUV39H2, BRD4, BRD2, BRD3


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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RelatedDrugs for MCL1_AR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneARP10275DB00421SpironolactoneAndrogen receptorsmall moleculeapproved
TgeneARP10275DB00623FluphenazineAndrogen receptorsmall moleculeapproved
TgeneARP10275DB00648MitotaneAndrogen receptorsmall moleculeapproved
TgeneARP10275DB00655EstroneAndrogen receptorsmall moleculeapproved
TgeneARP10275DB00675TamoxifenAndrogen receptorsmall moleculeapproved
TgeneARP10275DB01063AcetophenazineAndrogen receptorsmall moleculeapproved
TgeneARP10275DB01128BicalutamideAndrogen receptorsmall moleculeapproved
TgeneARP10275DB01395DrospirenoneAndrogen receptorsmall moleculeapproved
TgeneARP10275DB01406DanazolAndrogen receptorsmall moleculeapproved
TgeneARP10275DB06710MethyltestosteroneAndrogen receptorsmall moleculeapproved
TgeneARP10275DB08867UlipristalAndrogen receptorsmall moleculeapproved
TgeneARP10275DB08899EnzalutamideAndrogen receptorsmall moleculeapproved
TgeneARP10275DB09123DienogestAndrogen receptorsmall moleculeapproved
TgeneARP10275DB09371NorethynodrelAndrogen receptorsmall moleculeapproved
TgeneARP10275DB09389NorgestrelAndrogen receptorsmall moleculeapproved
TgeneARP10275DB11619GestrinoneAndrogen receptorsmall moleculeapproved
TgeneARP10275DB01185FluoxymesteroneAndrogen receptorsmall moleculeapproved|illicit
TgeneARP10275DB06412OxymetholoneAndrogen receptorsmall moleculeapproved|illicit
TgeneARP10275DB00255DiethylstilbestrolAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB00367LevonorgestrelAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB00499FlutamideAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB00621OxandroloneAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB00624TestosteroneAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB00665NilutamideAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB00687FludrocortisoneAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB00957NorgestimateAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB01026KetoconazoleAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB01608PropericiazineAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB04839Cyproterone acetateAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB06713NorelgestrominAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB08604TriclosanAndrogen receptorsmall moleculeapproved|investigational
TgeneARP10275DB01708PrasteroneAndrogen receptorsmall moleculeapproved|investigational|nutraceutical
TgeneARP10275DB00396ProgesteroneAndrogen receptorsmall moleculeapproved|vet_approved

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RelatedDiseases for MCL1_AR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMCL1C0004763Barrett Esophagus1CTD_human
HgeneMCL1C0023281Leishmaniasis1CTD_human
HgeneMCL1C0024121Lung Neoplasms1CTD_human
HgeneMCL1C0026764Multiple Myeloma1CTD_human
HgeneMCL1C0079773Lymphoma, T-Cell, Cutaneous1CTD_human
HgeneMCL1C1261473Sarcoma1CTD_human
TgeneARC0039585Androgen-Insensitivity Syndrome73CTD_human;ORPHANET;UNIPROT
TgeneARC0268301Reifenstein Syndrome49ORPHANET;UNIPROT
TgeneARC0033578Prostatic Neoplasms20CTD_human
TgeneARC0011570Mental Depression5PSYGENET
TgeneARC0011581Depressive disorder5PSYGENET
TgeneARC0021364Male infertility3CTD_human
TgeneARC0236663Alcohol withdrawal syndrome3PSYGENET
TgeneARC0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneARC0242788Breast Neoplasms, Male2CTD_human
TgeneARC1458155Mammary Neoplasms2CTD_human
TgeneARC3658267Prostatic Neoplasms, Castration-Resistant2CTD_human
TgeneARC0002170Alopecia1CTD_human
TgeneARC0004114Astrocytoma1CTD_human
TgeneARC0004352Autistic Disorder1CTD_human
TgeneARC0017412Genital Diseases, Male1CTD_human
TgeneARC0020538Hypertensive disease1CTD_human
TgeneARC0021361Female infertility1CTD_human
TgeneARC0021655Insulin Resistance1CTD_human
TgeneARC0023418leukemia1CTD_human
TgeneARC0027643Neoplasm Recurrence, Local1CTD_human
TgeneARC0036341Schizophrenia1PSYGENET
TgeneARC0085207Gestational Diabetes1CTD_human
TgeneARC0282612Prostatic Intraepithelial Neoplasias1CTD_human
TgeneARC0525045Mood Disorders1PSYGENET
TgeneARC0556385Craving for alcohol1PSYGENET
TgeneARC2239176Liver carcinoma1CTD_human