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Fusion gene ID: 12660 |
FusionGeneSummary for FAM177A1_AP4S1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM177A1_AP4S1 | Fusion gene ID: 12660 | Hgene | Tgene | Gene symbol | FAM177A1 | AP4S1 | Gene ID | 283635 | 11154 |
| Gene name | family with sequence similarity 177 member A1 | adaptor related protein complex 4 subunit sigma 1 | |
| Synonyms | C14orf24 | AP47B|CLA20|CLAPS4|CPSQ6|SPG52 | |
| Cytomap | 14q13.2 | 14q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM177A1 | AP-4 complex subunit sigma-1AP-4 adapter complex subunit sigma-1AP-4 adaptor complex subunit sigma-1adaptor related protein complex 4 sigma 1 subunitclathrin-associated/assembly/adaptor protein, sigma 4sigma-4-adaptin | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8N128 | Q9Y587 | |
| Ensembl transtripts involved in fusion gene | ENST00000396472, ENST00000382406, ENST00000280987, ENST00000554052, | ENST00000542754, ENST00000313566, ENST00000216366, ENST00000334725, ENST00000554609, ENST00000554345, | |
| Fusion gene scores | * DoF score | 5 X 5 X 5=125 | 3 X 3 X 3=27 |
| # samples | 6 | 3 | |
| ** MAII score | log2(6/125*10)=-1.05889368905357 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: FAM177A1 [Title/Abstract] AND AP4S1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | LUSC | TCGA-70-6722-01A | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| In-frame | ENST00000396472 | ENST00000542754 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000396472 | ENST00000313566 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000396472 | ENST00000216366 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000396472 | ENST00000334725 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000396472 | ENST00000554609 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000396472 | ENST00000554345 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| In-frame | ENST00000382406 | ENST00000542754 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000382406 | ENST00000313566 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000382406 | ENST00000216366 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000382406 | ENST00000334725 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000382406 | ENST00000554609 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000382406 | ENST00000554345 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| In-frame | ENST00000280987 | ENST00000542754 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000280987 | ENST00000313566 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000280987 | ENST00000216366 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000280987 | ENST00000334725 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000280987 | ENST00000554609 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 5CDS-intron | ENST00000280987 | ENST00000554345 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 3UTR-3CDS | ENST00000554052 | ENST00000542754 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 3UTR-intron | ENST00000554052 | ENST00000313566 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 3UTR-intron | ENST00000554052 | ENST00000216366 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 3UTR-intron | ENST00000554052 | ENST00000334725 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 3UTR-intron | ENST00000554052 | ENST00000554609 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
| 3UTR-intron | ENST00000554052 | ENST00000554345 | FAM177A1 | chr14 | 35515834 | + | AP4S1 | chr14 | 31549779 | + |
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FusionProtFeatures for FAM177A1_AP4S1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM177A1 | AP4S1 |
| Component of the adaptor protein complex 4 (AP-4).Adaptor protein complexes are vesicle coat components involvedboth in vesicle formation and cargo selection. They control thevesicular transport of proteins in different trafficking pathways(PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network(TGN) and may be involved in the targeting of proteins from thetrans-Golgi network (TGN) to the endosomal-lysosomal system. It isalso involved in protein sorting to the basolateral membrane inepithelial cells and the proper asymmetric localization ofsomatodendritic proteins in neurons. AP-4 is involved in therecognition and binding of tyrosine-based sorting signals found inthe cytoplasmic part of cargos, but may also recognize other typesof sorting signal (Probable). {ECO:0000269|PubMed:10066790,ECO:0000269|PubMed:10436028, ECO:0000305|PubMed:10066790,ECO:0000305|PubMed:10436028}. |
| 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 |
| Hgene | >FAM177A1 | chr14:35515834 | chr14:31549779 | ENST00000280987 | + | 1 | 5 | 136_173 | 55 | 237 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >FAM177A1 | chr14:35515834 | chr14:31549779 | ENST00000382406 | + | 2 | 6 | 136_173 | 32 | 214 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >FAM177A1 | chr14:35515834 | chr14:31549779 | ENST00000396472 | + | 3 | 7 | 136_173 | 32 | 214 | Coiled coil | Ontology_term=ECO:0000255 |
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FusionGeneSequence for FAM177A1_AP4S1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_FAM177A1_ENST00000396472_chr14_35515834_+_AP4S1_ENST00000542754_chr14_31549779_+_79aa >In-frame_FAM177A1_ENST00000382406_chr14_35515834_+_AP4S1_ENST00000542754_chr14_31549779_+_79aa >In-frame_FAM177A1_ENST00000280987_chr14_35515834_+_AP4S1_ENST00000542754_chr14_31549779_+_102aa MEVGLPAITLFLTSASSPVVATTMDQEPVGGVERGEAVAASGAAAAAAFGESAGQSELDIMFNLDKVHIILDEMVLNGCIVETNRARILA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_FAM177A1_ENST00000396472_chr14_35515834_+_AP4S1_ENST00000542754_chr14_31549779_+_237nt ATGGACCAGGAGCCAGTGGGCGGTGTGGAACGAGGAGAAGCCGTCGCAGCCTCGGGAGCTGCGGCCGCCGCGGCATTCGGGGAATCTGCA GGGCAGAGTGAATTAGATATAATGTTTAATTTGGATAAAGTACACATCATTTTGGATGAGATGGTGTTAAATGGCTGCATTGTGGAAACT >In-frame_FAM177A1_ENST00000382406_chr14_35515834_+_AP4S1_ENST00000542754_chr14_31549779_+_237nt ATGGACCAGGAGCCAGTGGGCGGTGTGGAACGAGGAGAAGCCGTCGCAGCCTCGGGAGCTGCGGCCGCCGCGGCATTCGGGGAATCTGCA GGGCAGAGTGAATTAGATATAATGTTTAATTTGGATAAAGTACACATCATTTTGGATGAGATGGTGTTAAATGGCTGCATTGTGGAAACT >In-frame_FAM177A1_ENST00000280987_chr14_35515834_+_AP4S1_ENST00000542754_chr14_31549779_+_306nt ATGGAAGTGGGCTTACCGGCCATTACCCTCTTTCTCACCAGCGCCAGCAGCCCTGTGGTGGCGACGACGATGGACCAGGAGCCAGTGGGC GGTGTGGAACGAGGAGAAGCCGTCGCAGCCTCGGGAGCTGCGGCCGCCGCGGCATTCGGGGAATCTGCAGGGCAGAGTGAATTAGATATA ATGTTTAATTTGGATAAAGTACACATCATTTTGGATGAGATGGTGTTAAATGGCTGCATTGTGGAAACTAACAGGGCAAGAATTCTTGCC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_FAM177A1_ENST00000396472_chr14_35515834_+_AP4S1_ENST00000542754_chr14_31549779_+_1273nt AAGAAAATTGTAATTTGATATTTAATTGCCACTTTGGAAAATAAAATCATGCATTTATAAATATCCCACAAAGTTTTAGTAATAAAGATT GTTGATTGCCCTGCTTGCCAGTAAGAAGGAAGAGATTTTGAATACATATAATGCAGAACTGTGTTGTTTATGAATGCCAATTCATGAAGT CTTAACAATTGGTTCTTTATTTTTGTTTTCAATTTATGGCCGAGTTTGGTTTTGCTGTTTTGGACTGTCTCAACTCCCTGCTGATGCCAC CATACAGAGTCAGATCAGCAACCACATCCCATCACTAGCCTTTGAAGTACAACGACACAGCTGTCTTCATTTTACAAGTGCAAAAACCGA GGTCCTGCGGGGTGACTGCCCCAGACGCCGCTGGTGACGGGCTGCGCCGAGGTCGAGACGCCAGGCTTCAGCGCCAGCAGCCCTGTGGTG GCGACGACGATGGACCAGGAGCCAGTGGGCGGTGTGGAACGAGGAGAAGCCGTCGCAGCCTCGGGAGCTGCGGCCGCCGCGGCATTCGGG GAATCTGCAGGGCAGAGTGAATTAGATATAATGTTTAATTTGGATAAAGTACACATCATTTTGGATGAGATGGTGTTAAATGGCTGCATT GTGGAAACTAACAGGGCAAGAATTCTTGCCCCTCTACTAATTCTTGATAAGATGTCAGAAAGCTGAAAGGAAGTCTCTTCGAGACAATAT GGATTTATCAGAAATGCGAGTACCGTGGAATACATCTCAACATGTTAACCCAGAAGAATCTGGAAGACCACAATTACAAAATGGGGTATC CTTCCAAAGACATTATAAATAGGCATTTTCCACAGTTCCTAAAAAGAAAACACAACTGTACTTTAAAATATGTACAAAGAAAAAAATTTC TTTAAACTGAGAGAGAAGTTTTATTTTCTAATTGTAAACATATCTGTCGCACTTTAAATTCTGTTGAGCACCTAAGGAACCCTTCTTGGT CTATGCTTCTTTTGCAAATTGAATTCAGGAATAGCAGGATGGTAGTGGGAAGAAAGTATGGCAGTTTTCCGTCAGCCAATAAAGTTTTAA AATTTAAACACAAGGCATTTTGAGTAACGCTGTTTTCTGAAAGCTATTTTTTTTTTTTTGAGACGGAGTCTAGTCTAGCTGTGTCACCTG GCACATTCTCGGCTCACTGCAACCTCCACTTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGAGCTGGGACTACAGGCATGCACCA >In-frame_FAM177A1_ENST00000382406_chr14_35515834_+_AP4S1_ENST00000542754_chr14_31549779_+_871nt AGGCGCGGCGCGAGGCGGGCGCTGGGCGGCGCCAGCAGCCCTGTGGTGGCGACGACGATGGACCAGGAGCCAGTGGGCGGTGTGGAACGA GGAGAAGCCGTCGCAGCCTCGGGAGCTGCGGCCGCCGCGGCATTCGGGGAATCTGCAGGGCAGAGTGAATTAGATATAATGTTTAATTTG GATAAAGTACACATCATTTTGGATGAGATGGTGTTAAATGGCTGCATTGTGGAAACTAACAGGGCAAGAATTCTTGCCCCTCTACTAATT CTTGATAAGATGTCAGAAAGCTGAAAGGAAGTCTCTTCGAGACAATATGGATTTATCAGAAATGCGAGTACCGTGGAATACATCTCAACA TGTTAACCCAGAAGAATCTGGAAGACCACAATTACAAAATGGGGTATCCTTCCAAAGACATTATAAATAGGCATTTTCCACAGTTCCTAA AAAGAAAACACAACTGTACTTTAAAATATGTACAAAGAAAAAAATTTCTTTAAACTGAGAGAGAAGTTTTATTTTCTAATTGTAAACATA TCTGTCGCACTTTAAATTCTGTTGAGCACCTAAGGAACCCTTCTTGGTCTATGCTTCTTTTGCAAATTGAATTCAGGAATAGCAGGATGG TAGTGGGAAGAAAGTATGGCAGTTTTCCGTCAGCCAATAAAGTTTTAAAATTTAAACACAAGGCATTTTGAGTAACGCTGTTTTCTGAAA GCTATTTTTTTTTTTTTGAGACGGAGTCTAGTCTAGCTGTGTCACCTGGCACATTCTCGGCTCACTGCAACCTCCACTTCCGGGGTTCAA >In-frame_FAM177A1_ENST00000280987_chr14_35515834_+_AP4S1_ENST00000542754_chr14_31549779_+_944nt GCGGGTGAGTCCCACTTCCCGACAGCCTGGCTCGGCCAGCGACTGGGCGGGGAGACCAAGGATGGAAGTGGGCTTACCGGCCATTACCCT CTTTCTCACCAGCGCCAGCAGCCCTGTGGTGGCGACGACGATGGACCAGGAGCCAGTGGGCGGTGTGGAACGAGGAGAAGCCGTCGCAGC CTCGGGAGCTGCGGCCGCCGCGGCATTCGGGGAATCTGCAGGGCAGAGTGAATTAGATATAATGTTTAATTTGGATAAAGTACACATCAT TTTGGATGAGATGGTGTTAAATGGCTGCATTGTGGAAACTAACAGGGCAAGAATTCTTGCCCCTCTACTAATTCTTGATAAGATGTCAGA AAGCTGAAAGGAAGTCTCTTCGAGACAATATGGATTTATCAGAAATGCGAGTACCGTGGAATACATCTCAACATGTTAACCCAGAAGAAT CTGGAAGACCACAATTACAAAATGGGGTATCCTTCCAAAGACATTATAAATAGGCATTTTCCACAGTTCCTAAAAAGAAAACACAACTGT ACTTTAAAATATGTACAAAGAAAAAAATTTCTTTAAACTGAGAGAGAAGTTTTATTTTCTAATTGTAAACATATCTGTCGCACTTTAAAT TCTGTTGAGCACCTAAGGAACCCTTCTTGGTCTATGCTTCTTTTGCAAATTGAATTCAGGAATAGCAGGATGGTAGTGGGAAGAAAGTAT GGCAGTTTTCCGTCAGCCAATAAAGTTTTAAAATTTAAACACAAGGCATTTTGAGTAACGCTGTTTTCTGAAAGCTATTTTTTTTTTTTT GAGACGGAGTCTAGTCTAGCTGTGTCACCTGGCACATTCTCGGCTCACTGCAACCTCCACTTCCGGGGTTCAAGCGATTCTCCTGCCTCA |
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FusionGenePPI for FAM177A1_AP4S1 |
| 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 |
| FAM177A1 | RHOJ, FAM204A, SLC27A2, C1orf27, SUGP1, UFSP2, EEF1A2, STEAP3, AAGAB, SLC4A1AP, FAM207A, SAR1B, TGS1, ARMCX3, DHX38, RIOK1, VPS13B, GTF2F2, DCUN1D5, OSTM1, GPKOW, C12orf43, CLCN7, DUSP22, MRPS31, NAPG, NCEH1 | AP4S1 | AP4E1, GRB2, APP, TEAD3, AFP, GTF2I, CEP104, GALNT2, MECP2, RPL10, SLC9A1, HLTF, TMPO, AP4M1, APPBP2, AP4B1, ENTHD2, GOLIM4, CDC73, C19orf52, SUV39H2 |
| - 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 |
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RelatedDrugs for FAM177A1_AP4S1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FAM177A1_AP4S1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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