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Fusion Protein:FAM172A-FHIT |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: FAM172A-FHIT | FusionPDB ID: 28700 | FusionGDB2.0 ID: 28700 | Hgene | Tgene | Gene symbol | FAM172A | FHIT | Gene ID | 83989 | 2272 |
| Gene name | family with sequence similarity 172 member A | fragile histidine triad diadenosine triphosphatase | |
| Synonyms | C5orf21|Toupee | AP3Aase|FRA3B | |
| Cytomap | 5q15 | 3p14.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cotranscriptional regulator FAM172Aprotein FAM172A | bis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q8WUF8 | P49789 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000395965, ENST00000509163, ENST00000504768, ENST00000505869, ENST00000509739, | ENST00000341848, ENST00000466788, ENST00000468189, ENST00000476844, ENST00000492590, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 18 X 17 X 8=2448 | 27 X 20 X 11=5940 |
| # samples | 23 | 32 | |
| ** MAII score | log2(23/2448*10)=-3.41189779174828 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(32/5940*10)=-4.21431912080077 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: FAM172A [Title/Abstract] AND FHIT [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | FAM172A(93294482)-FHIT(59738047), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | FAM172A-FHIT seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FAM172A-FHIT seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. FAM172A-FHIT seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. FAM172A-FHIT seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. FAM172A-FHIT seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. FAM172A-FHIT seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | FHIT | GO:0006163 | purine nucleotide metabolic process | 9323207 |
| Fusion gene breakpoints across FAM172A (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across FHIT (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | KIRC | TCGA-B2-4101-01A | FAM172A | chr5 | 93294482 | - | FHIT | chr3 | 59738047 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000395965 | FAM172A | chr5 | 93294482 | - | ENST00000476844 | FHIT | chr3 | 59738047 | - | 1070 | 710 | 140 | 805 | 221 |
| ENST00000395965 | FAM172A | chr5 | 93294482 | - | ENST00000492590 | FHIT | chr3 | 59738047 | - | 1081 | 710 | 140 | 805 | 221 |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000395965 | ENST00000476844 | FAM172A | chr5 | 93294482 | - | FHIT | chr3 | 59738047 | - | 0.003369195 | 0.99663085 |
| ENST00000395965 | ENST00000492590 | FAM172A | chr5 | 93294482 | - | FHIT | chr3 | 59738047 | - | 0.00328497 | 0.99671507 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >28700_28700_1_FAM172A-FHIT_FAM172A_chr5_93294482_ENST00000395965_FHIT_chr3_59738047_ENST00000476844_length(amino acids)=221AA_BP=190 MMSISLSSLILLPIWINMAQIQQGGPDEKEKTTALKDLLSRIDLDELMKKDEPPLDFPDTLEGFEYAFNEKGQLRHIKTGEPFVFNYRED LHRWNQKRYEALGEIITKYVYELLEKDCNLKKVSIPVDATESEPKSFIFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGT -------------------------------------------------------------- >28700_28700_2_FAM172A-FHIT_FAM172A_chr5_93294482_ENST00000395965_FHIT_chr3_59738047_ENST00000492590_length(amino acids)=221AA_BP=190 MMSISLSSLILLPIWINMAQIQQGGPDEKEKTTALKDLLSRIDLDELMKKDEPPLDFPDTLEGFEYAFNEKGQLRHIKTGEPFVFNYRED LHRWNQKRYEALGEIITKYVYELLEKDCNLKKVSIPVDATESEPKSFIFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGT -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:93294482/chr3:59738047) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM172A | FHIT |
| FUNCTION: Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity. {ECO:0000250|UniProtKB:Q3TNH5}. | 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}. |
| Retention 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 * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - Not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | FAM172A | chr5:93294482 | chr3:59738047 | ENST00000395965 | - | 6 | 11 | 413_416 | 189.0 | 417.0 | Motif | Prevents secretion from ER |
| Hgene | FAM172A | chr5:93294482 | chr3:59738047 | ENST00000505869 | - | 1 | 9 | 413_416 | 0 | 307.0 | Motif | Prevents secretion from ER |
| Hgene | FAM172A | chr5:93294482 | chr3:59738047 | ENST00000509163 | - | 5 | 10 | 413_416 | 143.0 | 371.0 | Motif | Prevents secretion from ER |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000341848 | 3 | 5 | 2_109 | 116.0 | 148.0 | Domain | HIT | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000468189 | 7 | 9 | 2_109 | 116.0 | 148.0 | Domain | HIT | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000476844 | 7 | 10 | 2_109 | 116.0 | 214.0 | Domain | HIT | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000492590 | 7 | 10 | 2_109 | 116.0 | 205.33333333333334 | Domain | HIT | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000341848 | 3 | 5 | 94_98 | 116.0 | 148.0 | Motif | Histidine triad motif | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000468189 | 7 | 9 | 94_98 | 116.0 | 148.0 | Motif | Histidine triad motif | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000476844 | 7 | 10 | 94_98 | 116.0 | 214.0 | Motif | Histidine triad motif | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000492590 | 7 | 10 | 94_98 | 116.0 | 205.33333333333334 | Motif | Histidine triad motif | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000341848 | 3 | 5 | 89_92 | 116.0 | 148.0 | Nucleotide binding | Substrate | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000468189 | 7 | 9 | 89_92 | 116.0 | 148.0 | Nucleotide binding | Substrate | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000476844 | 7 | 10 | 89_92 | 116.0 | 214.0 | Nucleotide binding | Substrate | |
| Tgene | FHIT | chr5:93294482 | chr3:59738047 | ENST00000492590 | 7 | 10 | 89_92 | 116.0 | 205.33333333333334 | Nucleotide binding | Substrate |
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Fusion Protein-Protein Interaction |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| FHIT | FHIT, UBE2I, CTNNB1, LEF1, TRIM23, RAB40B, MDM2, REL, TP53, ARHGAP19, MTMR6, RABL2A, CHEK1, DDIT4L, SPERT, FDCSP, GAST, GGH, BCAS2, PRPF6, YTHDF1, Rbm14, |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| FAM172A | |
| FHIT |  |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to FAM172A-FHIT |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to FAM172A-FHIT |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FHIT | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Tgene | FHIT | C0025500 | Mesothelioma | 2 | CTD_human |
| Tgene | FHIT | C0242379 | Malignant neoplasm of lung | 2 | CTD_human |
| Tgene | FHIT | C0007097 | Carcinoma | 1 | CTD_human |
| Tgene | FHIT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | FHIT | C0013146 | Drug abuse | 1 | CTD_human |
| Tgene | FHIT | C0013170 | Drug habituation | 1 | CTD_human |
| Tgene | FHIT | C0013222 | Drug Use Disorders | 1 | CTD_human |
| Tgene | FHIT | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | FHIT | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
| Tgene | FHIT | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human |
| Tgene | FHIT | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | FHIT | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | FHIT | C0038580 | Substance Dependence | 1 | CTD_human |
| Tgene | FHIT | C0038586 | Substance Use Disorders | 1 | CTD_human |
| Tgene | FHIT | C0042076 | Urologic Neoplasms | 1 | CTD_human |
| Tgene | FHIT | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
| Tgene | FHIT | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
| Tgene | FHIT | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
| Tgene | FHIT | C0205699 | Carcinomatosis | 1 | CTD_human |
| Tgene | FHIT | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| Tgene | FHIT | C0236804 | Amphetamine Addiction | 1 | CTD_human |
| Tgene | FHIT | C0236807 | Amphetamine Abuse | 1 | CTD_human |
| Tgene | FHIT | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Tgene | FHIT | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
| Tgene | FHIT | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
| Tgene | FHIT | C0740858 | Substance abuse problem | 1 | CTD_human |
| Tgene | FHIT | C0751571 | Cancer of Urinary Tract | 1 | CTD_human |
| Tgene | FHIT | C1510472 | Drug Dependence | 1 | CTD_human |
| Tgene | FHIT | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
| Tgene | FHIT | C4316881 | Prescription Drug Abuse | 1 | CTD_human |
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