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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:FTL-AR (FusionGDB2 ID:HG2512TG367)

Fusion Gene Summary for FTL-AR

check button Fusion gene summary
Fusion gene informationFusion gene name: FTL-AR
Fusion gene ID: hg2512tg367
HgeneTgene
Gene symbol

FTL

AR

Gene ID

2512

367

Gene nameferritin light chainandrogen receptor
SynonymsLFTD|NBIA3AIS|AR8|DHTR|HUMARA|HYSP1|KD|NR3C4|SBMA|SMAX1|TFM
Cytomap('FTL')('AR')

19q13.33

Xq12

Type of geneprotein-codingprotein-coding
Descriptionferritin light chainepididymis secretory sperm binding proteinferritin L subunitferritin L-chainferritin light polypeptide-like 3ferritin, light polypeptideandrogen receptordihydrotestosterone receptornuclear receptor subfamily 3 group C member 4
Modification date2020032920200329
UniProtAcc

P02792

.
Ensembl transtripts involved in fusion geneENST00000331825, 
Fusion gene scores* DoF score29 X 29 X 8=672814 X 10 X 11=1540
# samples 3516
** MAII scorelog2(35/6728*10)=-4.26475087842282
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: FTL [Title/Abstract] AND AR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFTL(49470103)-AR(66764979), # samples:1
FTL(49470099)-AR(66764975), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneAR

GO:0006351

transcription, DNA-templated

15572661

TgeneAR

GO:0008284

positive regulation of cell proliferation

17277772

TgeneAR

GO:0010628

positive regulation of gene expression

24681825

TgeneAR

GO:0030521

androgen receptor signaling pathway

19886863|20048160

TgeneAR

GO:0030522

intracellular receptor signaling pathway

17277772

TgeneAR

GO:0045720

negative regulation of integrin biosynthetic process

21310825

TgeneAR

GO:0045726

positive regulation of integrin biosynthetic process

21310825

TgeneAR

GO:0045893

positive regulation of transcription, DNA-templated

11477070|12799378

TgeneAR

GO:0045944

positive regulation of transcription by RNA polymerase II

12799378|16728402|17505061|20048160|20181722

TgeneAR

GO:0045945

positive regulation of transcription by RNA polymerase III

18487222

TgeneAR

GO:1903076

regulation of protein localization to plasma membrane

21310825

TgeneAR

GO:2001237

negative regulation of extrinsic apoptotic signaling pathway

21310825



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
ChimerDB4LIHCTCGA-KR-A7K7-01AFTLchr19

49470103

+ARchrX

66764979

+
ChimerDB4THYMTCGA-X7-ABD9FTLchr19

49470099

+ARchrX

66764975

+


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Fusion Gene ORF analysis for FTL-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
3UTR-3UTRENST00000331825ENST00000513847FTLchr19

49470103

+ARchrX

66764979

+
3UTR-3UTRENST00000331825ENST00000513847FTLchr19

49470099

+ARchrX

66764975

+
3UTR-5UTRENST00000331825ENST00000374690FTLchr19

49470103

+ARchrX

66764979

+
3UTR-5UTRENST00000331825ENST00000374690FTLchr19

49470099

+ARchrX

66764975

+
3UTR-5UTRENST00000331825ENST00000396044FTLchr19

49470103

+ARchrX

66764979

+
3UTR-5UTRENST00000331825ENST00000504326FTLchr19

49470103

+ARchrX

66764979

+
3UTR-5UTRENST00000331825ENST00000504326FTLchr19

49470099

+ARchrX

66764975

+
3UTR-intronENST00000331825ENST00000396043FTLchr19

49470103

+ARchrX

66764979

+
3UTR-intronENST00000331825ENST00000396043FTLchr19

49470099

+ARchrX

66764975

+
3UTR-intronENST00000331825ENST00000396044FTLchr19

49470099

+ARchrX

66764975

+

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 FTL-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)


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Fusion Protein Features for FTL-AR


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/:49470103/:66764979)
- 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
FTL

P02792

.
FUNCTION: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). {ECO:0000250, ECO:0000269|PubMed:19923220, ECO:0000269|PubMed:20159981}.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

- 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 FTL-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 FTL-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 FTL-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
HgeneFTLP02792DB09517Sodium ferric gluconate complexBindingSmall moleculeApproved
HgeneFTLP02792DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
HgeneFTLP02792DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved

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Related Diseases for FTL-AR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFTLC1833213Hyperferritinemia, hereditary, with congenital cataracts3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFTLC1853578Neuroferritinopathy3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFTLC3810090L-FERRITIN DEFICIENCY2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneFTLC0011573Endogenous depression1CTD_human
HgeneFTLC0011581Depressive disorder1CTD_human
HgeneFTLC0012715Iron Metabolism Disorders1CTD_human
HgeneFTLC0022548Keloid1CTD_human
HgeneFTLC0025193Melancholia1CTD_human
HgeneFTLC0026650Movement Disorders1GENOMICS_ENGLAND
HgeneFTLC0027626Neoplasm Invasiveness1CTD_human
HgeneFTLC0027627Neoplasm Metastasis1CTD_human
HgeneFTLC0028754Obesity1CTD_human
HgeneFTLC0029408Degenerative polyarthritis1CTD_human
HgeneFTLC0033975Psychotic Disorders1PSYGENET
HgeneFTLC0041696Unipolar Depression1CTD_human
HgeneFTLC0086133Depressive Syndrome1CTD_human
HgeneFTLC0086743Osteoarthrosis Deformans1CTD_human
HgeneFTLC0282126Depression, Neurotic1CTD_human
HgeneFTLC0349204Nonorganic psychosis1PSYGENET
HgeneFTLC0751870Heredodegenerative Disorders, Nervous System1CTD_human
HgeneFTLC4707880Genetic hyperferritinemia without iron overload1ORPHANET
TgeneC0039585Androgen-Insensitivity Syndrome74CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0268301Reifenstein Syndrome41CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0033578Prostatic Neoplasms21CTD_human
TgeneC0376358Malignant neoplasm of prostate21CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC3658266Prostatic Cancer, Castration-Resistant4CTD_human
TgeneC3658267Prostatic Neoplasms, Castration-Resistant4CTD_human
TgeneC0021364Male infertility3CTD_human
TgeneC0236663Alcohol withdrawal syndrome3PSYGENET
TgeneC0848676Subfertility, Male3CTD_human
TgeneC0917731Male sterility3CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneC0006142Malignant neoplasm of breast2CTD_human;UNIPROT
TgeneC0238033Carcinoma of Male Breast2CTD_human
TgeneC0242788Breast Neoplasms, Male2CTD_human
TgeneC0678222Breast Carcinoma2CTD_human
TgeneC0936016Testicular Feminization2CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC2713546Androgen Receptor Deficiency2CTD_human
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC0002170Alopecia1CTD_human
TgeneC0004114Astrocytoma1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0017412Genital Diseases, Male1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0021361Female infertility1CTD_human
TgeneC0021655Insulin Resistance1CTD_human
TgeneC0023418leukemia1CTD_human
TgeneC0027643Neoplasm Recurrence, Local1CTD_human
TgeneC0038279Sterility, Postpartum1CTD_human
TgeneC0085207Gestational Diabetes1CTD_human
TgeneC0086873Pseudopelade1CTD_human
TgeneC0162311Androgenetic Alopecia1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0263477Female pattern alopecia (disorder)1CTD_human
TgeneC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneC0280785Diffuse Astrocytoma1CTD_human
TgeneC0282612Prostatic Intraepithelial Neoplasias1CTD_human
TgeneC0334579Anaplastic astrocytoma1CTD_human
TgeneC0334580Protoplasmic astrocytoma1CTD_human
TgeneC0334581Gemistocytic astrocytoma1CTD_human
TgeneC0334582Fibrillary Astrocytoma1CTD_human
TgeneC0334583Pilocytic Astrocytoma1CTD_human
TgeneC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneC0341869Subfertility, Female1CTD_human
TgeneC0525045Mood Disorders1PSYGENET
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0556385Craving for alcohol1PSYGENET
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0917730Female sterility1CTD_human
TgeneC0920563Insulin Sensitivity1CTD_human
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC4083212Alopecia, Male Pattern1CTD_human