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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:GALNT18-IER3IP1 (FusionGDB2 ID:32157) |
Fusion Gene Summary for GALNT18-IER3IP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GALNT18-IER3IP1 | Fusion gene ID: 32157 | Hgene | Tgene | Gene symbol | GALNT18 | IER3IP1 | Gene ID | 374378 | 51124 |
| Gene name | polypeptide N-acetylgalactosaminyltransferase 18 | immediate early response 3 interacting protein 1 | |
| Synonyms | GALNACT18|GALNT15|GALNTL4|GalNAc-T15|GalNAc-T18 | HSPC039|MEDS|PRO2309 | |
| Cytomap | 11p15.4 | 18q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | polypeptide N-acetylgalactosaminyltransferase 18GalNAc-transferase 18UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15UDP-N-acetyl-alpha-D-galacto | immediate early response 3-interacting protein 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q6P9A2 | Q9Y5U9 | |
| Ensembl transtripts involved in fusion gene | ENST00000227756, ENST00000526064, | ENST00000588705, ENST00000256433, | |
| Fusion gene scores | * DoF score | 12 X 5 X 9=540 | 5 X 3 X 3=45 |
| # samples | 13 | 5 | |
| ** MAII score | log2(13/540*10)=-2.05444778402238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/45*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: GALNT18 [Title/Abstract] AND IER3IP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | GALNT18(11454168)-IER3IP1(44683908), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | GALNT18-IER3IP1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. GALNT18-IER3IP1 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 | GALNT18 | GO:0006493 | protein O-linked glycosylation | 22186971 |
| Fusion gene breakpoints across GALNT18 (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 IER3IP1 (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 | BLCA | TCGA-DK-A3IN-01A | GALNT18 | chr11 | 11454168 | - | IER3IP1 | chr18 | 44683908 | - |
| ChimerDB4 | BLCA | TCGA-DK-A3IN-01A | GALNT18 | chr11 | 11454168 | - | IER3IP1 | chr18 | 44683908 | - |
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Fusion Gene ORF analysis for GALNT18-IER3IP1 |
| 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 | ENST00000227756 | ENST00000588705 | GALNT18 | chr11 | 11454168 | - | IER3IP1 | chr18 | 44683908 | - |
| In-frame | ENST00000227756 | ENST00000256433 | GALNT18 | chr11 | 11454168 | - | IER3IP1 | chr18 | 44683908 | - |
| intron-3CDS | ENST00000526064 | ENST00000588705 | GALNT18 | chr11 | 11454168 | - | IER3IP1 | chr18 | 44683908 | - |
| intron-3CDS | ENST00000526064 | ENST00000256433 | GALNT18 | chr11 | 11454168 | - | IER3IP1 | chr18 | 44683908 | - |
| 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) |
| ENST00000227756 | GALNT18 | chr11 | 11454168 | - | ENST00000256433 | IER3IP1 | chr18 | 44683908 | - | 2300 | 1007 | 199 | 1164 | 321 |
| 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 |
| ENST00000227756 | ENST00000256433 | GALNT18 | chr11 | 11454168 | - | IER3IP1 | chr18 | 44683908 | - | 0.001422068 | 0.99857795 |
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Fusion Genomic Features for GALNT18-IER3IP1 |
| 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 GALNT18-IER3IP1 |
| Go to FGviewer for the breakpoints of chr11:11454168-chr18:44683908 - 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 |
| GALNT18 | IER3IP1 |
| FUNCTION: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. {ECO:0000269|PubMed:22186971}. | FUNCTION: Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size (PubMed:33122427). Required for secretion of extracellular matrix proteins (PubMed:33122427). Required for correct brain development by depositing sufficient extracellular matrix proteins for tissue integrity and the proliferation of neural progenitors (PubMed:33122427). Acts as a regulator of the unfolded protein response (UPR) (By similarity). {ECO:0000250|UniProtKB:Q9CR20, ECO:0000269|PubMed:33122427}. |
| 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 | GALNT18 | chr11:11454168 | chr18:44683908 | ENST00000227756 | - | 3 | 11 | 1_12 | 198.33333333333334 | 608.0 | Topological domain | Cytoplasmic |
| Hgene | GALNT18 | chr11:11454168 | chr18:44683908 | ENST00000227756 | - | 3 | 11 | 13_35 | 198.33333333333334 | 608.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
| Tgene | IER3IP1 | chr11:11454168 | chr18:44683908 | ENST00000256433 | 0 | 3 | 62_82 | 30.333333333333332 | 83.0 | Transmembrane | Helical |
| - 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 | GALNT18 | chr11:11454168 | chr18:44683908 | ENST00000227756 | - | 3 | 11 | 469_599 | 198.33333333333334 | 608.0 | Domain | Ricin B-type lectin |
| Hgene | GALNT18 | chr11:11454168 | chr18:44683908 | ENST00000227756 | - | 3 | 11 | 153_267 | 198.33333333333334 | 608.0 | Region | Note=Catalytic subdomain A |
| Hgene | GALNT18 | chr11:11454168 | chr18:44683908 | ENST00000227756 | - | 3 | 11 | 324_385 | 198.33333333333334 | 608.0 | Region | Note=Catalytic subdomain B |
| Hgene | GALNT18 | chr11:11454168 | chr18:44683908 | ENST00000227756 | - | 3 | 11 | 36_607 | 198.33333333333334 | 608.0 | Topological domain | Lumenal |
| Tgene | IER3IP1 | chr11:11454168 | chr18:44683908 | ENST00000256433 | 0 | 3 | 2_22 | 30.333333333333332 | 83.0 | Transmembrane | Helical |
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Fusion Gene Sequence for GALNT18-IER3IP1 |
| 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_ENST00000227756_ENST00000256433_TCGA-DK-A3IN-01A_GALNT18_chr11_11454168_-_IER3IP1_chr18_44683908_length(transcript)=2300nt_BP=1007nt GCTGTTCTCCTAGCAGCGCGGGCCGGTCGGACCGCCAAGGCAGCCGGCGCTGGCGATGGGAAGCGGCGTGGCCGCCGACACAGGCAGTGG CAAAGTTTCCCAGACGTACACATCTGGACGCGCGGCTGCCGGCTACCCGTGACCCCTCTAGGAAGGGTTCAGGGATTTTTAATTTGGAAA AAAATCCACCTGGTTTCCTTTGTCAAGGTCTCTCCGGGTGGCCAGCGGCAGGAGCTGCAAACTTGGGCACGGCGGCTACACCGGCAGCGG ACCGGGCTTTGGAGAACCTCGGGACTCAGGTGCTGAGGTGCCCAGCGGCTCCGGACGTGCTACGGGGTGCGAGCGCGGGGGAGTTCGGGG CGCACGACAAGGAAGGGCCCCCGGGAGCTCTATATGGAGGAAGGAGCCCAGAATGGTGTGCACCAGGAAGACCAAAACTTTGGTGTCCAC TTGCGTGATCCTGAGCGGCATGACTAACATCATCTGCCTGCTCTACGTGGGCTGGGTCACCAACTACATCGCCAGCGTGTATGTGCGGGG GCAGGAGCCGGCGCCCGACAAGAAGCTGGAGGAAGACAAAGGGGACACTCTGAAGATTATTGAGCGGCTGGACCACCTGGAGAATGTCAT CAAGCAGCACATTCAAGAGGCTCCTGCCAAGCCTGAGGAGGCAGAGGCCGAGCCCTTCACAGACTCCTCTCTGTTTGCACACTGGGGCCA GGAGCTCAGCCCCGAAGGCCGGCGCGTGGCCCTGAAGCAATTCCAGTACTACGGCTACAACGCCTACCTCAGCGACCGCCTGCCCCTGGA CCGGCCCCTGCCTGACCTCAGACCCAGTGGGTGCCGTAACCTCTCATTTCCTGACAGCCTGCCAGAGGTGAGCATCGTGTTCATCTTCGT CAATGAAGCGCTTTCAGTGCTGCTGCGCTCCATCCACTCGGCCATGGAACGCACGCCCCCACATCTGCTCAAGGAGATCATTCTGGTGGA TGACAACAGCAGTAACGTTGGCTGGGGAACAGACCAGGGAATTGGTGGATTTGGAGAAGAGCCGGGAATTAAATCACAGCTAATGAACCT TATTCGATCTGTAAGAACCGTGATGAGAGTGCCATTGATAATAGTAAACTCAATTGCAATTGTGTTACTTTTATTATTTGGATGAATATC AGTGGAGAAAATGGAGACTCAGAAGAGGACATGCCAGTAGAAGTTATTACTTTGGTCATTATTGGAATATTTATATCTTAGCTGGCTGAC CTTGCACTTGTCAAAAATGTAAAGCTGAAAATAAAACCAGGGTTTCTATTTATCTGTTTTTTTTTTTAATGTTGCACTTGTAGTTTCATT ACAAAAGATCAGATCATGAAAGGCAGTAACTCTCCAGGACTGGAATATCTGATTGCTCAGTGTTAATAGTAGTTCATGCTGTGGTGAGAT TGTTAAAAGGGTGCAAGACTGTTGCTTCTCTTTTTTTAGATATTTTTCTATCTCTCACTTCTCAGGGATGAAATTCTTTTTCAAAGTTTT GAAGTTCCTTGCAACTTAGCCATGATGTGAGTGGTTATCCCTAGATAAAATTAAAAGGATTTTTAAAAAGTAATTACTGCACATAAAATG ATAAATAGGTAATTTGAATAATTTTATTTTAAGCTCCTTGGTTAATTATTTTGTCTATTGTCTCAGCTATAAATTCAAATTTATACATAC TATTGAGTATTAATATTCTCTGATTTCAGGGAGAATTCTGTCAGTCACATGATGATTATGTTTTTGTTTAACATTCTTTCCATGCACTTG TTATTTTATTAATTTGCCTGAATGATGAGACCAGACCAGTGTCTACAGATTTTCATTGTCAGAAAAATCTATAAGTCTGCCCTTTTTACA ATGATGATTTAAAAAAAACAACAGCGTAAATATTAGCCCACAAGAGCAGTCCTAAACAATCACAATTACACTGTACTACCCAAGAAGACT GTTTATTGTGAAGCATTTACCTTTCAAAAAATCATTACATTTCTATTTCTTGGTGGAGCAGCACATTGTGGAGTGTGATTCTTAATTCTT CATTGAGTTTGTCAATAGGACATTGATGCTGGATAGGTTGTCTTTTGTTTTTATGTCTCAGACCATCTTGTGAGATTGTTTGCCTATCTC ATAATACAGTTTTATGCAGAAAGGTTGAAACTATGTAAATGGTTTTTATGGAAATTATCAGTTACAATATTTTAAAGGTGTAGAATGGCA >In-frame_ENST00000227756_ENST00000256433_TCGA-DK-A3IN-01A_GALNT18_chr11_11454168_-_IER3IP1_chr18_44683908_length(amino acids)=321AA_start in transcript=199_stop in transcript=1164 MSRSLRVASGRSCKLGHGGYTGSGPGFGEPRDSGAEVPSGSGRATGCERGGVRGARQGRAPGSSIWRKEPRMVCTRKTKTLVSTCVILSG MTNIICLLYVGWVTNYIASVYVRGQEPAPDKKLEEDKGDTLKIIERLDHLENVIKQHIQEAPAKPEEAEAEPFTDSSLFAHWGQELSPEG RRVALKQFQYYGYNAYLSDRLPLDRPLPDLRPSGCRNLSFPDSLPEVSIVFIFVNEALSVLLRSIHSAMERTPPHLLKEIILVDDNSSNV -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for GALNT18-IER3IP1 |
| 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 |
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Related Drugs for GALNT18-IER3IP1 |
| 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 GALNT18-IER3IP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | IER3IP1 | C3280240 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | IER3IP1 | C0158981 | Neonatal diabetes mellitus | 1 | GENOMICS_ENGLAND |
| Tgene | IER3IP1 | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
| Tgene | IER3IP1 | C4229700 | Microcephaly (-3 to -9 SD) | 1 | GENOMICS_ENGLAND |
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