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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:FHIT-SAT1 (FusionGDB2 ID:HG2272TG6303)

Fusion Gene Summary for FHIT-SAT1

check button Fusion gene summary
Fusion gene informationFusion gene name: FHIT-SAT1
Fusion gene ID: hg2272tg6303
HgeneTgene
Gene symbol

FHIT

SAT1

Gene ID

2272

6303

Gene namefragile histidine triad diadenosine triphosphatasespermidine/spermine N1-acetyltransferase 1
SynonymsAP3Aase|FRA3BDC21|KFSD|KFSDX|SAT|SSAT|SSAT-1
Cytomap('FHIT')('SAT1')

3p14.2

Xp22.11

Type of geneprotein-codingprotein-coding
Descriptionbis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatasediamine acetyltransferase 1diamine N-acetyltransferase 1epididymis secretory sperm binding proteinpolyamine N-acetyltransferase 1putrescine acetyltransferasespermidine/spermine N1-acetyltransferase alpha
Modification date2020031320200327
UniProtAcc

P49789

.
Ensembl transtripts involved in fusion geneENST00000341848, ENST00000466788, 
ENST00000468189, ENST00000476844, 
ENST00000492590, 
Fusion gene scores* DoF score26 X 19 X 9=444612 X 14 X 7=1176
# samples 2617
** MAII scorelog2(26/4446*10)=-4.09592441999854
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1176*10)=-2.79028140869866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FHIT [Title/Abstract] AND SAT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFHIT(59886845)-SAT1(23804111), # 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
HgeneFHIT

GO:0006163

purine nucleotide metabolic process

9323207



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
ChiTaRS5.0N/AEC572403FHITchr3

59886845

-SAT1chrX

23804111

+


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Fusion Gene ORF analysis for FHIT-SAT1

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
intron-3UTRENST00000341848ENST00000379254FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000341848ENST00000379270FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000341848ENST00000489394FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000466788ENST00000379254FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000466788ENST00000379270FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000466788ENST00000489394FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000468189ENST00000379254FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000468189ENST00000379270FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000468189ENST00000489394FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000476844ENST00000379254FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000476844ENST00000379270FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000476844ENST00000489394FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000492590ENST00000379254FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000492590ENST00000379270FHITchr3

59886845

-SAT1chrX

23804111

+
intron-3UTRENST00000492590ENST00000489394FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000341848ENST00000379251FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000341848ENST00000379253FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000466788ENST00000379251FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000466788ENST00000379253FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000468189ENST00000379251FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000468189ENST00000379253FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000476844ENST00000379251FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000476844ENST00000379253FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000492590ENST00000379251FHITchr3

59886845

-SAT1chrX

23804111

+
intron-intronENST00000492590ENST00000379253FHITchr3

59886845

-SAT1chrX

23804111

+

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 FHIT-SAT1


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 FHIT-SAT1


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/:59886845/:23804111)
- 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
FHIT

P49789

.
FUNCTION: Possesses dinucleoside triphosphate hydrolase activity (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9576908, PubMed:9543008). Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9576908, PubMed:9543008). Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP (PubMed:8794732). Exhibits adenylylsulfatase activity, hydrolyzing adenosine 5'-phosphosulfate to yield AMP and sulfate (PubMed:18694747). Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:18694747). Exhibits adenylylsulfate-ammonia adenylyltransferase, catalyzing the ammonolysis of adenosine 5'-phosphosulfate resulting in the formation of adenosine 5'-phosphoramidate (PubMed:26181368). Also catalyzes the ammonolysis of adenosine 5-phosphorofluoridate and diadenosine triphosphate (PubMed:26181368). Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5 (PubMed:18077326). Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways (PubMed:16407838). Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptosis (PubMed:15313915). Induction of apoptosis depends on the ability of FHIT to bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity, it may in part come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake (PubMed:12574506, PubMed:19622739). Functions as tumor suppressor (By similarity). {ECO:0000250|UniProtKB:O89106, ECO:0000269|PubMed:12574506, ECO:0000269|PubMed:15313915, ECO:0000269|PubMed:16407838, ECO:0000269|PubMed:18077326, ECO:0000269|PubMed:18694747, ECO:0000269|PubMed:19622739, ECO:0000269|PubMed:26181368, ECO:0000269|PubMed:8794732, ECO:0000269|PubMed:9323207, ECO:0000269|PubMed:9543008}.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 FHIT-SAT1


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 FHIT-SAT1


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 FHIT-SAT1


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 FHIT-SAT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFHITC0024121Lung Neoplasms2CTD_human
HgeneFHITC0025500Mesothelioma2CTD_human
HgeneFHITC0242379Malignant neoplasm of lung2CTD_human
HgeneFHITC0007097Carcinoma1CTD_human
HgeneFHITC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneFHITC0013146Drug abuse1CTD_human
HgeneFHITC0013170Drug habituation1CTD_human
HgeneFHITC0013222Drug Use Disorders1CTD_human
HgeneFHITC0023903Liver neoplasms1CTD_human
HgeneFHITC0024623Malignant neoplasm of stomach1CTD_human
HgeneFHITC0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneFHITC0033578Prostatic Neoplasms1CTD_human
HgeneFHITC0038356Stomach Neoplasms1CTD_human
HgeneFHITC0038580Substance Dependence1CTD_human
HgeneFHITC0038586Substance Use Disorders1CTD_human
HgeneFHITC0042076Urologic Neoplasms1CTD_human
HgeneFHITC0205696Anaplastic carcinoma1CTD_human
HgeneFHITC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneFHITC0205698Undifferentiated carcinoma1CTD_human
HgeneFHITC0205699Carcinomatosis1CTD_human
HgeneFHITC0236733Amphetamine-Related Disorders1CTD_human
HgeneFHITC0236804Amphetamine Addiction1CTD_human
HgeneFHITC0236807Amphetamine Abuse1CTD_human
HgeneFHITC0236969Substance-Related Disorders1CTD_human
HgeneFHITC0345904Malignant neoplasm of liver1CTD_human
HgeneFHITC0376358Malignant neoplasm of prostate1CTD_human
HgeneFHITC0740858Substance abuse problem1CTD_human
HgeneFHITC0751571Cancer of Urinary Tract1CTD_human
HgeneFHITC1510472Drug Dependence1CTD_human
HgeneFHITC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneFHITC4316881Prescription Drug Abuse1CTD_human
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0011581Depressive disorder2PSYGENET
TgeneC0001956Alcohol Use Disorder1PSYGENET
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0028754Obesity1CTD_human
TgeneC0033975Psychotic Disorders1PSYGENET
TgeneC0036337Schizoaffective Disorder1PSYGENET
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0162820Dermatitis, Allergic Contact1CTD_human
TgeneC0343057Keratosis pilaris decalvans1ORPHANET
TgeneC0349204Nonorganic psychosis1PSYGENET
TgeneC0525045Mood Disorders1PSYGENET
TgeneC1269683Major Depressive Disorder1PSYGENET