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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:CDC73-FAM172A (FusionGDB2 ID:14982) |
Fusion Gene Summary for CDC73-FAM172A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDC73-FAM172A | Fusion gene ID: 14982 | Hgene | Tgene | Gene symbol | CDC73 | FAM172A | Gene ID | 79577 | 83989 |
| Gene name | cell division cycle 73 | family with sequence similarity 172 member A | |
| Synonyms | C1orf28|FIHP|HPTJT|HRPT1|HRPT2|HYX | C5orf21|Toupee | |
| Cytomap | 1q31.2 | 5q15 | |
| Type of gene | protein-coding | protein-coding | |
| Description | parafibrominFamilial isolated hyperparathyroidismPaf1/RNA polymerase II complex componentcell division cycle 73 Paf1/RNA polymerase II complex component-like proteincell division cycle 73, Paf1/RNA polymerase II complex component, homologcell divisio | cotranscriptional regulator FAM172Aprotein FAM172A | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q6P1J9 | Q8WUF8 | |
| Ensembl transtripts involved in fusion gene | ENST00000367435, ENST00000477868, | ENST00000395965, ENST00000505869, ENST00000509739, ENST00000509163, ENST00000504768, | |
| Fusion gene scores | * DoF score | 8 X 6 X 6=288 | 11 X 14 X 6=924 |
| # samples | 8 | 23 | |
| ** MAII score | log2(8/288*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(23/924*10)=-2.00625899047168 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CDC73 [Title/Abstract] AND FAM172A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CDC73(193121574)-FAM172A(92956835), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | CDC73-FAM172A seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. CDC73-FAM172A seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. CDC73-FAM172A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CDC73-FAM172A seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. CDC73-FAM172A 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 |
| Hgene | CDC73 | GO:0008285 | negative regulation of cell proliferation | 16989776 |
| Hgene | CDC73 | GO:0010390 | histone monoubiquitination | 16307923 |
| Hgene | CDC73 | GO:0030177 | positive regulation of Wnt signaling pathway | 16630820 |
| Hgene | CDC73 | GO:0032968 | positive regulation of transcription elongation from RNA polymerase II promoter | 20178742 |
| Hgene | CDC73 | GO:0033523 | histone H2B ubiquitination | 16307923 |
| Hgene | CDC73 | GO:0045638 | negative regulation of myeloid cell differentiation | 20541477 |
| Hgene | CDC73 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20178742 |
| Hgene | CDC73 | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 16989776 |
| Fusion gene breakpoints across CDC73 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across FAM172A (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 | LAML | TCGA-AB-2939 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| ChimerDB4 | LAML | TCGA-AB-2939_61FFWAAXX_7 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| ChimerDB4 | LAML | TCGA-AB-2939-03A | CDC73 | chr1 | 193121574 | - | FAM172A | chr5 | 92956835 | - |
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Fusion Gene ORF analysis for CDC73-FAM172A |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000367435 | ENST00000395965 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| Frame-shift | ENST00000367435 | ENST00000505869 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| Frame-shift | ENST00000367435 | ENST00000509739 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| In-frame | ENST00000367435 | ENST00000509163 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| 5CDS-intron | ENST00000367435 | ENST00000504768 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| intron-3CDS | ENST00000477868 | ENST00000395965 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| intron-3CDS | ENST00000477868 | ENST00000505869 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| intron-3CDS | ENST00000477868 | ENST00000509739 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| intron-3CDS | ENST00000477868 | ENST00000509163 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| intron-intron | ENST00000477868 | ENST00000504768 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| ENST00000367435 | CDC73 | chr1 | 193121574 | + | ENST00000509163 | FAM172A | chr5 | 92956835 | - | 1357 | 1156 | 7 | 1176 | 389 |
| 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 |
| ENST00000367435 | ENST00000509163 | CDC73 | chr1 | 193121574 | + | FAM172A | chr5 | 92956835 | - | 0.005220167 | 0.9947798 |
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Fusion Genomic Features for CDC73-FAM172A |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution 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. |
| Distribution 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 CDC73-FAM172A |
| Go to FGviewer for the breakpoints of chr1:193121574-chr5:92956835 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDC73 | FAM172A |
| FUNCTION: Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors. {ECO:0000269|PubMed:15580289, ECO:0000269|PubMed:15632063, ECO:0000269|PubMed:15923622, ECO:0000269|PubMed:16630820, ECO:0000269|PubMed:16989776, ECO:0000269|PubMed:19136632, ECO:0000269|PubMed:19952111, ECO:0000269|PubMed:20178742, ECO:0000269|PubMed:20541477, ECO:0000269|PubMed:21329879}. | 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}. |
| 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. |
| - In-frame and 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 | CDC73 | chr1:193121574 | chr5:92956835 | ENST00000367435 | + | 10 | 17 | 125_139 | 324.0 | 532.0 | Motif | Note=Nuclear localization signal |
| Tgene | FAM172A | chr1:193121574 | chr5:92956835 | ENST00000395965 | 9 | 11 | 413_416 | 369.3333333333333 | 417.0 | Motif | Prevents secretion from ER | |
| Tgene | FAM172A | chr1:193121574 | chr5:92956835 | ENST00000505869 | 7 | 9 | 413_416 | 259.3333333333333 | 307.0 | Motif | Prevents secretion from ER | |
| Tgene | FAM172A | chr1:193121574 | chr5:92956835 | ENST00000509163 | 8 | 10 | 413_416 | 323.3333333333333 | 371.0 | Motif | Prevents secretion from ER |
| - In-frame and 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 | CDC73 | chr1:193121574 | chr5:92956835 | ENST00000367435 | + | 10 | 17 | 361_364 | 324.0 | 532.0 | Compositional bias | Note=Poly-Ile |
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Fusion Gene Sequence for CDC73-FAM172A |
| 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. |
| >In-frame_ENST00000367435_ENST00000509163_TCGA-AB-2939_CDC73_chr1_193121574_+_FAM172A_chr5_92956835_length(transcript)=1357nt_BP=1156nt CGGCGGCCTGGGTGGCTACTGCCCCTGCTGCTGTCGTAGGCGAGGACGGCTGTTAGTGCTGCTGCTGTTGGTTCGTCGCGGCGGCGAAGG AGGAGGAGGAAGAGGGCGAGGCGACAAGAGAAGAAGGAGGCAGGCGCGGCGGCAGCGGCGGCGCCCCGAGCCGGCGGAGGCGAGGGGGGG GAAGATGGCGGACGTGCTTAGCGTCCTGCGACAGTACAACATCCAGAAGAAGGAGATTGTGGTGAAGGGAGACGAAGTGATCTTCGGGGA GTTCTCCTGGCCCAAGAATGTGAAGACCAACTATGTTGTTTGGGGGACTGGAAAGGAAGGCCAACCCAGAGAGTACTACACATTGGATTC CATTTTATTTCTACTTAATAACGTGCACCTTTCTCATCCTGTTTATGTCCGACGTGCAGCTACTGAAAATATTCCTGTGGTTAGAAGACC TGATCGAAAAGATCTACTTGGATATCTCAATGGTGAAGCGTCAACATCGGCAAGTATAGACAGAAGCGCTCCCTTAGAAATAGGTCTTCA GCGATCTACTCAAGTCAAACGAGCTGCAGATGAAGTTTTAGCAGAAGCAAAGAAACCACGAATTGAGGATGAAGAGTGTGTGCGCCTTGA TAAAGAGAGATTGGCTGCCCGTTTGGAGGGTCACAAAGAAGGGATTGTACAGACTGAACAGATTAGGTCTTTGTCTGAAGCTATGTCAGT GGAAAAAATTGCTGCAATCAAAGCCAAAATTATGGCTAAGAAAAGATCTACTATCAAGACTGATCTAGATGATGACATAACTGCCCTTAA ACAGAGGAGTTTTGTGGATGCTGAGGTAGATGTGACCCGAGATATTGTCAGCAGAGAGAGAGTATGGAGGACACGAACAACTATCTTACA AAGCACAGGAAAGAATTTTTCCAAGAACATTTTTGCAATTCTTCAATCTGTAAAAGCCAGAGAAGAAGGGCGTGCACCTGAACAGCGACC TGCCCCAAATGCAGCACCTGTGGATCCCACTTTGCGCACCAAACAGCCTATCCCAGCTGCCTATAACAGATACGATCAGGAAAGATTCAA AGGAAAAGAAGAAACGGAAGGCTTCAAAATTGACACTATGGGAACCTACCATGGTATGACACTGAAATCTGTAACGGCACCGACCGTCAC GAGCTAACTTCCTGGAAGAGCTTTCCGTCTATTTTCAAATTCTTTACCGAAGCCTCAGAGGCCAAGACCAGCTCCCTGAAGCCGGCTGTG ACGCGCCGCTCCCACCGCATCAAGCACGAAGAGCTGTAAGAGGAGCGAGCGCGACGGGGGAGGCCGCCCTGGCGCACCCACCCGCACGCC >In-frame_ENST00000367435_ENST00000509163_TCGA-AB-2939_CDC73_chr1_193121574_+_FAM172A_chr5_92956835_length(amino acids)=389AA_start in transcript=7_stop in transcript=1176 MGGYCPCCCRRRGRLLVLLLLVRRGGEGGGGRGRGDKRRRRQARRQRRRPEPAEARGGKMADVLSVLRQYNIQKKEIVVKGDEVIFGEFS WPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLSHPVYVRRAATENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQRS TQVKRAADEVLAEAKKPRIEDEECVRLDKERLAARLEGHKEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDLDDDITALKQR SFVDAEVDVTRDIVSRERVWRTRTTILQSTGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTLRTKQPIPAAYNRYDQERFKGK -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for CDC73-FAM172A |
| 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 (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Hgene | CDC73 | chr1:193121574 | chr5:92956835 | ENST00000367435 | + | 10 | 17 | 200_250 | 324.0 | 532.0 | CTNNB1 |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Hgene | CDC73 | chr1:193121574 | chr5:92956835 | ENST00000367435 | + | 10 | 17 | 200_531 | 324.0 | 532.0 | POLR2A and PAF1 |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for CDC73-FAM172A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for CDC73-FAM172A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CDC73 | C1704981 | Hyperparathyroidism-Jaw Tumor Syndrome | 9 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | CDC73 | C1840402 | HYPERPARATHYROIDISM 1 | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | CDC73 | C0687150 | Parathyroid Gland Adenocarcinoma | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | CDC73 | C4551961 | Familial Isolated Hyperparathyroidism | 1 | CTD_human;ORPHANET |
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