| UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
|||||||
|
Fusion Protein:ATP8B1-COG7 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ATP8B1-COG7 | FusionPDB ID: 8249 | FusionGDB2.0 ID: 8249 | Hgene | Tgene | Gene symbol | ATP8B1 | COG7 | Gene ID | 5205 | 91949 |
| Gene name | ATPase phospholipid transporting 8B1 | component of oligomeric golgi complex 7 | |
| Synonyms | ATPIC|BRIC|FIC1|ICP1|PFIC|PFIC1 | CDG2E | |
| Cytomap | 18q21.31 | 16p12.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phospholipid-transporting ATPase ICATPase, aminophospholipid transporter, class I, type 8B, member 1ATPase, class I, type 8B, member 1E1-E2 ATPaseP4-ATPase flippase complex alpha subunit ATP8B1familial intrahepatic cholestasis type 1probable phospho | conserved oligomeric Golgi complex subunit 7COG complex subunit 7 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | O43520 | P83436 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000283684, ENST00000536015, ENST00000589147, | ENST00000569635, ENST00000307149, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 11 X 12 X 4=528 | 8 X 6 X 5=240 |
| # samples | 12 | 7 | |
| ** MAII score | log2(12/528*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/240*10)=-1.77760757866355 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ATP8B1 [Title/Abstract] AND COG7 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ATP8B1(55317598)-COG7(23428442), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ATP8B1-COG7 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. ATP8B1-COG7 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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 | ATP8B1 | GO:0006855 | drug transmembrane transport | 20510206 |
| Hgene | ATP8B1 | GO:0045332 | phospholipid translocation | 20510206 |
| Fusion gene breakpoints across ATP8B1 (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 COG7 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
Top |
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 | BRCA | TCGA-AN-A0XT | ATP8B1 | chr18 | 55317598 | - | COG7 | chr16 | 23428442 | - |
Top |
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) |
| ENST00000283684 | ATP8B1 | chr18 | 55317598 | - | ENST00000307149 | COG7 | chr16 | 23428442 | - | 5134 | 3531 | 0 | 4706 | 1568 |
| 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 |
| ENST00000283684 | ENST00000307149 | ATP8B1 | chr18 | 55317598 | - | COG7 | chr16 | 23428442 | - | 0.000381727 | 0.9996183 |
Top |
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 >8249_8249_1_ATP8B1-COG7_ATP8B1_chr18_55317598_ENST00000283684_COG7_chr16_23428442_ENST00000307149_length(amino acids)=1568AA_BP=1175 MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES KYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHA YWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHY IFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVD RTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDRKRMSIIVRTPEGNIKLYCKGADTVIYERLH RMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISK LAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEIL LEKKTKRNKILKLKFPRTEEERRMRTQSKRRLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNM IKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYSAQTAYEDWFITLYNV LYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASAL VITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNALRQPYIWLTIILAVAVCLLPVVAIRFLSMTI WPSESDKEHGEVIDCVQELSHSVNKLFGLASAAVDRCVRFTNGLGTCGLLSALKSLFAKYVSDFTSTLQSIRKKCKLDHIPPNSLFQEDW TAFQNSIRIIATCGELLRHCGDFEQQLANRILSTAGKYLSDSCSPRSLAGFQESILTDKKNSAKNPWQEYNYLQKDNPAEYASLMEILYT LKEKGSSNHNLLAAPRAALTRLNQQAHQLAFDSVFLRIKQQLLLISKMDSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLE PFVTQEDSALELALHAGKLPFPPEQGDELPELDNMADNWLGSIARATMQTYCDAILQIPELSPHSAKQLATDIDYLINVMDALGLQPSRT -------------------------------------------------------------- |
Top |
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/chr18:55317598/chr16:23428442) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP8B1 | COG7 |
| FUNCTION: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:25315773, PubMed:17948906). May participate in the establishment of the canalicular membrane integrity by ensuring asymmetric distribution of phospholipids in the canicular membrane (By similarity). Thus may have a role in the regulation of bile acids transport into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both and protect hepatocytes from bile salts (By similarity). Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity (PubMed:20512993). Participates in correct apical membrane localization of CDC42, CFTR and SLC10A2 (PubMed:25239307, PubMed:27301931). Enables CDC42 clustering at the apical membrane during enterocyte polarization through the interaction between CDC42 polybasic region and negatively charged membrane lipids provided by ATP8B1 (By similarity). Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine (PubMed:20510206). Required for the preservation of cochlear hair cells in the inner ear (By similarity). May act as cardiolipin transporter during inflammatory injury (By similarity). {ECO:0000250|UniProtKB:Q148W0, ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20510206, ECO:0000269|PubMed:20512993, ECO:0000269|PubMed:25239307, ECO:0000269|PubMed:27301931}. | FUNCTION: Required for normal Golgi function. {ECO:0000269|PubMed:11980916}. |
| 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 |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1003_1032 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1055_1068 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1092_1097 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1119_1138 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 131_136 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 157_340 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1_108 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 363_389 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 412_949 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 971_982 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1003_1032 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1055_1068 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1092_1097 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1119_1138 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 131_136 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 157_340 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1_108 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 363_389 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 412_949 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 971_982 | 1177.0 | 1252.0 | Topological domain | Exoplasmic loop |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1033_1054 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1069_1091 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1098_1118 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 109_130 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1139_1163 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 137_156 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 341_362 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 390_411 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 950_970 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 983_1002 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1033_1054 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1069_1091 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1098_1118 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 109_130 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1139_1163 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 137_156 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 341_362 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 390_411 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 950_970 | 1177.0 | 1252.0 | Transmembrane | Helical |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 983_1002 | 1177.0 | 1252.0 | Transmembrane | Helical |
| - 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 | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000283684 | - | 26 | 27 | 1164_1251 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
| Hgene | ATP8B1 | chr18:55317598 | chr16:23428442 | ENST00000536015 | - | 27 | 28 | 1164_1251 | 1177.0 | 1252.0 | Topological domain | Cytoplasmic |
Top |
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 |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| ATP8B1 | |
| COG7 |
| - 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 |
Top |
Related Drugs to ATP8B1-COG7 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to ATP8B1-COG7 |
| 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 |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies