|
||||||
|
 | 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:RALGAPA1-FOXA1 (FusionGDB2 ID:71457) |
Fusion Gene Summary for RALGAPA1-FOXA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RALGAPA1-FOXA1 | Fusion gene ID: 71457 | Hgene | Tgene | Gene symbol | RALGAPA1 | FOXA1 | Gene ID | 253959 | 3169 |
| Gene name | Ral GTPase activating protein catalytic subunit alpha 1 | forkhead box A1 | |
| Synonyms | GARNL1|GRIPE|NEDHRIT|RalGAPalpha1|TULIP1|p240 | HNF3A|TCF3A | |
| Cytomap | 14q13.2 | 14q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ral GTPase-activating protein subunit alpha-1GAP-related interacting protein to E12GTPase activating Rap/RanGAP domain-like 1Ral GTPase activating protein catalytic alpha subunit 1Ral GTPase activating protein, alpha subunit 1 (catalytic)tuberin-like | hepatocyte nuclear factor 3-alphaHNF-3-alphaHNF-3ATCF-3Aforkhead box protein A1transcription factor 3A | |
| Modification date | 20200314 | 20200313 | |
| UniProtAcc | . | P55317 | |
| Ensembl transtripts involved in fusion gene | ENST00000389698, ENST00000307138, ENST00000258840, ENST00000382366, ENST00000554704, | ENST00000250448, ENST00000540786, ENST00000545425, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 8 X 6 X 4=192 |
| # samples | 6 | 8 | |
| ** MAII score | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RALGAPA1 [Title/Abstract] AND FOXA1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | RALGAPA1(36277936)-FOXA1(38061916), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | RALGAPA1-FOXA1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. RALGAPA1-FOXA1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. RALGAPA1-FOXA1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. RALGAPA1-FOXA1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. RALGAPA1-FOXA1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor 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 | FOXA1 | GO:0032355 | response to estradiol | 16087863 |
| Tgene | FOXA1 | GO:0043065 | positive regulation of apoptotic process | 19127412 |
| Tgene | FOXA1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16331276|19127412|20160041 |
| Fusion gene breakpoints across RALGAPA1 (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 FOXA1 (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 | PRAD | TCGA-V1-A8MF-01A | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
Top |
Fusion Gene ORF analysis for RALGAPA1-FOXA1 |
| 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 | ENST00000389698 | ENST00000250448 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| 5CDS-5UTR | ENST00000389698 | ENST00000540786 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| 5CDS-5UTR | ENST00000389698 | ENST00000545425 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| Frame-shift | ENST00000307138 | ENST00000250448 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| 5CDS-5UTR | ENST00000307138 | ENST00000540786 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| 5CDS-5UTR | ENST00000307138 | ENST00000545425 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| Frame-shift | ENST00000258840 | ENST00000250448 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| 5CDS-5UTR | ENST00000258840 | ENST00000540786 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| 5CDS-5UTR | ENST00000258840 | ENST00000545425 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| Frame-shift | ENST00000382366 | ENST00000250448 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| 5CDS-5UTR | ENST00000382366 | ENST00000540786 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| 5CDS-5UTR | ENST00000382366 | ENST00000545425 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| intron-3CDS | ENST00000554704 | ENST00000250448 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| intron-5UTR | ENST00000554704 | ENST00000540786 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| intron-5UTR | ENST00000554704 | ENST00000545425 | RALGAPA1 | chr14 | 36277936 | - | FOXA1 | chr14 | 38061916 | - |
| 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) |
| 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 |
Top |
Fusion Genomic Features for RALGAPA1-FOXA1 |
| 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. |
Top |
Fusion Protein Features for RALGAPA1-FOXA1 |
| 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | FOXA1 |
| 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. | FUNCTION: Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). Proposed to play a role in translating the epigenetic signatures into cell type-specific enhancer-driven transcriptional programs. Its differential recruitment to chromatin is dependent on distribution of histone H3 methylated at 'Lys-5' (H3K4me2) in estrogen-regulated genes. Involved in the development of multiple endoderm-derived organ systems such as liver, pancreas, lung and prostate; FOXA1 and FOXA2 seem to have at least in part redundant roles (By similarity). Modulates the transcriptional activity of nuclear hormone receptors. Is involved in ESR1-mediated transcription; required for ESR1 binding to the NKX2-1 promoter in breast cancer cells; binds to the RPRM promoter and is required for the estrogen-induced repression of RPRM. Involved in regulation of apoptosis by inhibiting the expression of BCL2. Involved in cell cycle regulation by activating expression of CDKN1B, alone or in conjunction with BRCA1. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis. {ECO:0000250, ECO:0000269|PubMed:16087863, ECO:0000269|PubMed:16331276, ECO:0000269|PubMed:18358809, ECO:0000269|PubMed:19127412, ECO:0000269|PubMed:19917725}. |
| 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 |
| - 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 |
Top |
Fusion Gene Sequence for RALGAPA1-FOXA1 |
| 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. |
Top |
Fusion Gene PPI Analysis for RALGAPA1-FOXA1 |
| 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 |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - 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 |
Top |
Related Drugs for RALGAPA1-FOXA1 |
| 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 |
Top |
Related Diseases for RALGAPA1-FOXA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RALGAPA1 | C0026827 | Muscle hypotonia | 1 | GENOMICS_ENGLAND |
| Hgene | RALGAPA1 | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
| Tgene | FOXA1 | C0033578 | Prostatic Neoplasms | 4 | CTD_human |
| Tgene | FOXA1 | C0376358 | Malignant neoplasm of prostate | 4 | CTD_human |
| Tgene | FOXA1 | C0006142 | Malignant neoplasm of breast | 1 | CGI;CTD_human |
| Tgene | FOXA1 | C0015695 | Fatty Liver | 1 | CTD_human |
| Tgene | FOXA1 | C0678222 | Breast Carcinoma | 1 | CGI;CTD_human |
| Tgene | FOXA1 | C1176475 | Ductal Carcinoma | 1 | CTD_human |
| Tgene | FOXA1 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Tgene | FOXA1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | FOXA1 | C2711227 | Steatohepatitis | 1 | CTD_human |
| Tgene | FOXA1 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies