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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:SHROOM4-AR (FusionGDB2 ID:81220)

Fusion Gene Summary for SHROOM4-AR

check button Fusion gene summary
Fusion gene informationFusion gene name: SHROOM4-AR
Fusion gene ID: 81220
HgeneTgene
Gene symbol

SHROOM4

AR

Gene ID

57477

374

Gene nameshroom family member 4amphiregulin
SynonymsSHAP|shrm4AR|AREGB|CRDGF|SDGF
Cytomap

Xp11.22

4q13.3

Type of geneprotein-codingprotein-coding
Descriptionprotein Shroom4second homolog of apical proteinamphiregulinamphiregulin Bcolorectum cell-derived growth factorschwannoma-derived growth factor
Modification date2020031320200327
UniProtAcc.

ARSK

Ensembl transtripts involved in fusion geneENST00000376020, ENST00000289292, 
ENST00000483955, ENST00000460112, 
ENST00000374690, ENST00000513847, 
ENST00000504326, ENST00000396044, 
ENST00000396043, 
Fusion gene scores* DoF score6 X 4 X 6=14414 X 10 X 11=1540
# samples 716
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1540*10)=-3.2667865406949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SHROOM4 [Title/Abstract] AND AR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSHROOM4(50438786)-AR(66905852), # samples:3
Anticipated loss of major functional domain due to fusion event.SHROOM4-AR seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SHROOM4-AR seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
SHROOM4-AR seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
SHROOM4-AR seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted 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
HgeneSHROOM4

GO:0000902

cell morphogenesis

16684770

HgeneSHROOM4

GO:0007420

brain development

16249884

HgeneSHROOM4

GO:0050890

cognition

16249884

TgeneAR

GO:0007173

epidermal growth factor receptor signaling pathway

12743035

TgeneAR

GO:0007186

G protein-coupled receptor signaling pathway

12743035


check buttonFusion gene breakpoints across SHROOM4 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4CHOLTCGA-ZH-A8Y4-01ASHROOM4chrX

50438786

-ARchrX

66905852

+
ChimerDB4CHOLTCGA-ZH-A8Y4-01ASHROOM4chrX

50438786

-ARchrX

66905852

+
ChimerDB4CHOLTCGA-ZH-A8Y4-01ASHROOM4chrX

50438786

-ARchrX

66905852

+


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Fusion Gene ORF analysis for SHROOM4-AR

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
Frame-shiftENST00000376020ENST00000374690SHROOM4chrX

50438786

-ARchrX

66905852

+
5CDS-3UTRENST00000376020ENST00000513847SHROOM4chrX

50438786

-ARchrX

66905852

+
5CDS-3UTRENST00000376020ENST00000504326SHROOM4chrX

50438786

-ARchrX

66905852

+
5CDS-3UTRENST00000376020ENST00000396044SHROOM4chrX

50438786

-ARchrX

66905852

+
5CDS-3UTRENST00000376020ENST00000396043SHROOM4chrX

50438786

-ARchrX

66905852

+
Frame-shiftENST00000289292ENST00000374690SHROOM4chrX

50438786

-ARchrX

66905852

+
5CDS-3UTRENST00000289292ENST00000513847SHROOM4chrX

50438786

-ARchrX

66905852

+
5CDS-3UTRENST00000289292ENST00000504326SHROOM4chrX

50438786

-ARchrX

66905852

+
5CDS-3UTRENST00000289292ENST00000396044SHROOM4chrX

50438786

-ARchrX

66905852

+
5CDS-3UTRENST00000289292ENST00000396043SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3CDSENST00000483955ENST00000374690SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3UTRENST00000483955ENST00000513847SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3UTRENST00000483955ENST00000504326SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3UTRENST00000483955ENST00000396044SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3UTRENST00000483955ENST00000396043SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3CDSENST00000460112ENST00000374690SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3UTRENST00000460112ENST00000513847SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3UTRENST00000460112ENST00000504326SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3UTRENST00000460112ENST00000396044SHROOM4chrX

50438786

-ARchrX

66905852

+
intron-3UTRENST00000460112ENST00000396043SHROOM4chrX

50438786

-ARchrX

66905852

+

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)

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

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Fusion Genomic Features for SHROOM4-AR


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)
SHROOM4chrX50438785-ARchrX66905851+0.0062267050.9937733
SHROOM4chrX50438785-ARchrX66905851+0.0062267050.9937733

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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SHROOM4-AR


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

ARSK

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.536

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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Fusion Gene Sequence for SHROOM4-AR


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.

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Fusion Gene PPI Analysis for SHROOM4-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


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 SHROOM4-AR


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 SHROOM4-AR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSHROOM4C1845530Stocco dos Santos syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneSHROOM4C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneARC0039585Androgen-Insensitivity Syndrome74CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneARC0268301Reifenstein Syndrome41CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneARC0033578Prostatic Neoplasms21CTD_human
TgeneARC0376358Malignant neoplasm of prostate21CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneARC0011570Mental Depression5PSYGENET
TgeneARC0011581Depressive disorder5PSYGENET
TgeneARC3658266Prostatic Cancer, Castration-Resistant4CTD_human
TgeneARC3658267Prostatic Neoplasms, Castration-Resistant4CTD_human
TgeneARC0021364Male infertility3CTD_human
TgeneARC0236663Alcohol withdrawal syndrome3PSYGENET
TgeneARC0848676Subfertility, Male3CTD_human
TgeneARC0917731Male sterility3CTD_human
TgeneARC0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneARC0006142Malignant neoplasm of breast2CTD_human;UNIPROT
TgeneARC0238033Carcinoma of Male Breast2CTD_human
TgeneARC0242788Breast Neoplasms, Male2CTD_human
TgeneARC0678222Breast Carcinoma2CTD_human
TgeneARC0936016Testicular Feminization2CTD_human
TgeneARC1257931Mammary Neoplasms, Human2CTD_human
TgeneARC1458155Mammary Neoplasms2CTD_human
TgeneARC2713546Androgen Receptor Deficiency2CTD_human
TgeneARC4704874Mammary Carcinoma, Human2CTD_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
TgeneARC0038279Sterility, Postpartum1CTD_human
TgeneARC0085207Gestational Diabetes1CTD_human
TgeneARC0086873Pseudopelade1CTD_human
TgeneARC0162311Androgenetic Alopecia1CTD_human
TgeneARC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneARC0263477Female pattern alopecia (disorder)1CTD_human
TgeneARC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneARC0280785Diffuse Astrocytoma1CTD_human
TgeneARC0282612Prostatic Intraepithelial Neoplasias1CTD_human
TgeneARC0334579Anaplastic astrocytoma1CTD_human
TgeneARC0334580Protoplasmic astrocytoma1CTD_human
TgeneARC0334581Gemistocytic astrocytoma1CTD_human
TgeneARC0334582Fibrillary Astrocytoma1CTD_human
TgeneARC0334583Pilocytic Astrocytoma1CTD_human
TgeneARC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneARC0341869Subfertility, Female1CTD_human
TgeneARC0525045Mood Disorders1PSYGENET
TgeneARC0547065Mixed oligoastrocytoma1CTD_human
TgeneARC0556385Craving for alcohol1PSYGENET
TgeneARC0750935Cerebral Astrocytoma1CTD_human
TgeneARC0750936Intracranial Astrocytoma1CTD_human
TgeneARC0917730Female sterility1CTD_human
TgeneARC0920563Insulin Sensitivity1CTD_human
TgeneARC1704230Grade I Astrocytoma1CTD_human
TgeneARC2239176Liver carcinoma1CTD_human
TgeneARC4083212Alopecia, Male Pattern1CTD_human