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Fusion gene ID: 14311 |
FusionGeneSummary for GALNT18_IER3IP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: GALNT18_IER3IP1 | Fusion gene ID: 14311 | 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 | 20180523 | 20180523 | |
UniProtAcc | Q6P9A2 | Q9Y5U9 | |
Ensembl transtripts involved in fusion gene | ENST00000227756, ENST00000526064, | ENST00000588705, ENST00000256433, | |
Fusion gene scores | * DoF score | 9 X 4 X 7=252 | 4 X 3 X 3=36 |
# samples | 9 | 4 | |
** MAII score | log2(9/252*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*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] | ||
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 |
Hgene | GALNT18 | GO:0006493 | protein O-linked glycosylation | 22186971 |
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 | BLCA | TCGA-DK-A3IN-01A | GALNT18 | chr11 | 11454168 | - | IER3IP1 | chr18 | 44683908 | - |
* 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 |
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 | - |
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FusionProtFeatures for GALNT18_IER3IP1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GALNT18 | IER3IP1 |
Catalyzes the initial reaction in O-linkedoligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on theprotein receptor. {ECO:0000269|PubMed:22186971}. | May be implicated in the regulation of apoptosis. May beinvolved in protein transport between endoplasmic reticulum andGolgi apparatus (By similarity). {ECO:0000250}. |
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 |
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FusionGeneSequence for GALNT18_IER3IP1 |
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_GALNT18_ENST00000227756_chr11_11454168_-_IER3IP1_ENST00000256433_chr18_44683908_-_251aa MVCTRKTKTLVSTCVILSGMTNIICLLYVGWVTNYIASVYVRGQEPAPDKKLEEDKGDTLKIIERLDHLENVIKQHIQEAPAKPEEAEAE PFTDSSLFAHWGQELSPEGRRVALKQFQYYGYNAYLSDRLPLDRPLPDLRPSGCRNLSFPDSLPEVSIVFIFVNEALSVLLRSIHSAMER |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_GALNT18_ENST00000227756_chr11_11454168_-_IER3IP1_ENST00000256433_chr18_44683908_-_753nt ATGGTGTGCACCAGGAAGACCAAAACTTTGGTGTCCACTTGCGTGATCCTGAGCGGCATGACTAACATCATCTGCCTGCTCTACGTGGGC TGGGTCACCAACTACATCGCCAGCGTGTATGTGCGGGGGCAGGAGCCGGCGCCCGACAAGAAGCTGGAGGAAGACAAAGGGGACACTCTG AAGATTATTGAGCGGCTGGACCACCTGGAGAATGTCATCAAGCAGCACATTCAAGAGGCTCCTGCCAAGCCTGAGGAGGCAGAGGCCGAG CCCTTCACAGACTCCTCTCTGTTTGCACACTGGGGCCAGGAGCTCAGCCCCGAAGGCCGGCGCGTGGCCCTGAAGCAATTCCAGTACTAC GGCTACAACGCCTACCTCAGCGACCGCCTGCCCCTGGACCGGCCCCTGCCTGACCTCAGACCCAGTGGGTGCCGTAACCTCTCATTTCCT GACAGCCTGCCAGAGGTGAGCATCGTGTTCATCTTCGTCAATGAAGCGCTTTCAGTGCTGCTGCGCTCCATCCACTCGGCCATGGAACGC ACGCCCCCACATCTGCTCAAGGAGATCATTCTGGTGGATGACAACAGCAGTAACGTTGGCTGGGGAACAGACCAGGGAATTGGTGGATTT GGAGAAGAGCCGGGAATTAAATCACAGCTAATGAACCTTATTCGATCTGTAAGAACCGTGATGAGAGTGCCATTGATAATAGTAAACTCA |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_GALNT18_ENST00000227756_chr11_11454168_-_IER3IP1_ENST00000256433_chr18_44683908_-_2300nt 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 |
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FusionGenePPI 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 |
GALNT18 | CEP250, TAZ, IDS, PLAUR, TMEM25, PTPRK, LYZL2, OS9, ST8SIA4, SLAMF1, AVP, LYZL1, TDGF1, PTCH1 | IER3IP1 | CSNK2B, TK1, RGS2, ELAVL1, CYSTM1, FAM3C, MOV10, TSSC1, VPS13C, GNG5, CCDC53, ADCY9, PTPRG |
- 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 GALNT18_IER3IP1 |
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 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 | 1 | ORPHANET;UNIPROT |