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Fusion gene ID: 17660 |
FusionGeneSummary for IQCB1_ILDR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IQCB1_ILDR1 | Fusion gene ID: 17660 | Hgene | Tgene | Gene symbol | IQCB1 | ILDR1 | Gene ID | 9657 | 286676 |
| Gene name | IQ motif containing B1 | immunoglobulin like domain containing receptor 1 | |
| Synonyms | NPHP5|PIQ|SLSN5 | DFNB42|ILDR1alpha|ILDR1alpha'|ILDR1beta | |
| Cytomap | 3q13.33|3q21.1 | 3q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | IQ calmodulin-binding motif-containing protein 1nephrocystin 5p53 and DNA damage-regulated IQ motif protein | immunoglobulin-like domain-containing receptor 1immunoglobulin-like domain-containing receptor 1 alphaimmunoglobulin-like domain-containing receptor 1 beta | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q15051 | Q86SU0 | |
| Ensembl transtripts involved in fusion gene | ENST00000310864, ENST00000349820, | ENST00000273691, ENST00000344209, ENST00000393631, ENST00000462014, ENST00000460554, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: IQCB1 [Title/Abstract] AND ILDR1 [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 |
| Tgene | ILDR1 | GO:0051260 | protein homooligomerization | 15381095 |
| 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 | BRCA | TCGA-AR-A24O-01A | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| * 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 | ENST00000310864 | ENST00000273691 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| Frame-shift | ENST00000310864 | ENST00000344209 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| Frame-shift | ENST00000310864 | ENST00000393631 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| In-frame | ENST00000310864 | ENST00000462014 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| 5CDS-intron | ENST00000310864 | ENST00000460554 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| Frame-shift | ENST00000349820 | ENST00000273691 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| Frame-shift | ENST00000349820 | ENST00000344209 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| Frame-shift | ENST00000349820 | ENST00000393631 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| In-frame | ENST00000349820 | ENST00000462014 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
| 5CDS-intron | ENST00000349820 | ENST00000460554 | IQCB1 | chr3 | 121508920 | - | ILDR1 | chr3 | 121707255 | - |
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FusionProtFeatures for IQCB1_ILDR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IQCB1 | ILDR1 |
| Involved in ciliogenesis. The function in an early stepin cilia formation depends on its association with CEP290/NPHP6(PubMed:21565611, PubMed:23446637). Involved in regulation of theBBSome complex integrity, specifically for presence of BBS2 andBBS5 in the complex, and in ciliary targeting of selected BBSomecargos. May play a role in controlling entry of the BBSome complexto cilia possibly implicating CEP290/NPHP6 (PubMed:25552655).{ECO:0000269|PubMed:23446637, ECO:0000269|PubMed:25552655}. | Putative membrane receptor. |
| 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 IQCB1_ILDR1 |
| 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_IQCB1_ENST00000310864_chr3_121508920_-_ILDR1_ENST00000462014_chr3_121707255_-_390aa MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHC CVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQI GSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKLFSTPSPVIRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEF SQELRQLVGLLSPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAM >In-frame_IQCB1_ENST00000349820_chr3_121508920_-_ILDR1_ENST00000462014_chr3_121707255_-_257aa MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHC CVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQI |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_IQCB1_ENST00000310864_chr3_121508920_-_ILDR1_ENST00000462014_chr3_121707255_-_1171nt ATGAAGCCAACAGGTACAGACCCAAGGATCTTATCTATAGCTGCTGAAGTTGCAAAAAGCCCTGAGCAGAATGTCCCTGTTATACTGTTG AAGTTAAAAGAAATAATAAACATCACACCTTTAGGAAGCTCAGAGTTGAAGAAAATCAAACAAGATATATATTGTTATGATCTCATTCAA TATTGCCTCTTGGTCCTCAGTCAAGATTATTCTCGAATCCAGGGTGGTTGGACTACAATTTCCCAGCTTACACAGATATTAAGCCATTGC TGTGTGGGCTTGGAGCCAGGAGAAGATGCAGAGGAATTTTACAATGAATTACTTCCATCAGCTGCAGAAAATTTTCTAGTTTTGGGGAGA CAATTACAAACATGTTTTATCAATGCAGCTAAGGCTGAAGAAAAAGATGAATTACTACACTTTTTCCAAATTGTGACTGATTCTCTCTTC TGGCTTTTGGGAGGCCATGTTGAACTTATTCAGAATGTACTACAAAGTGATCATTTCTTACATTTACTGCAAGCTGACAATGTCCAAATA GGATCTGCAGTCATGATGATGCTACAGAATATACTACAGATCAACAGTGGTGATTTACTCAGAATAGGAAGAAAAGCCCTGTATTCAATT TTAGATGAAGTTATTTTCAAGCTTTTTTCAACTCCTAGTCCAGTTATAAGAAGTACTGCTACAAAACTCCTACTGTTGATGGCTGAATCC CATCAGGAAATTTTGATTTTACTGAGACAAAGTACCTGCTACAAAGGACTCAGACGTCTACTAAGTAAACAGGAAACTGGGACTGAATTC AGTCAAGAACTTAGACAGCTTGTTGGCCTTTTAAGCCCAATGGTCTATCAGGAAGTAGAAGAGCAGAAACTACATCAAGCAGCATGCTTG ATTCAAGCCTATTGGAAGGGTTTTCAGACAAGAAAGAGATTAAAGAAGCTTCCATCTGCTGTGATTGCTTTGCAGAGGAGTTTCAGATCC AAACGATCAAAGATGTTGCTGGAGATAAATAGGCAGAAGGAAGAAGAGGACCTCAAATTACAATTGCAACTTCAAAGACAGAGAGCCATG AGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGAAATAGTTCATCCAGGAGAAAGACAGCTCTCATAGTGGAAGGAGTGTGGTCATTTA >In-frame_IQCB1_ENST00000349820_chr3_121508920_-_ILDR1_ENST00000462014_chr3_121707255_-_772nt ATGAAGCCAACAGGTACAGACCCAAGGATCTTATCTATAGCTGCTGAAGTTGCAAAAAGCCCTGAGCAGAATGTCCCTGTTATACTGTTG AAGTTAAAAGAAATAATAAACATCACACCTTTAGGAAGCTCAGAGTTGAAGAAAATCAAACAAGATATATATTGTTATGATCTCATTCAA TATTGCCTCTTGGTCCTCAGTCAAGATTATTCTCGAATCCAGGGTGGTTGGACTACAATTTCCCAGCTTACACAGATATTAAGCCATTGC TGTGTGGGCTTGGAGCCAGGAGAAGATGCAGAGGAATTTTACAATGAATTACTTCCATCAGCTGCAGAAAATTTTCTAGTTTTGGGGAGA CAATTACAAACATGTTTTATCAATGCAGCTAAGGCTGAAGAAAAAGATGAATTACTACACTTTTTCCAAATTGTGACTGATTCTCTCTTC TGGCTTTTGGGAGGCCATGTTGAACTTATTCAGAATGTACTACAAAGTGATCATTTCTTACATTTACTGCAAGCTGACAATGTCCAAATA GGATCTGCAGTCATGATGATGCTACAGAATATACTACAGATCAACAGATCCAAACGATCAAAGATGTTGCTGGAGATAAATAGGCAGAAG GAAGAAGAGGACCTCAAATTACAATTGCAACTTCAAAGACAGAGAGCCATGAGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGAAATA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_IQCB1_ENST00000310864_chr3_121508920_-_ILDR1_ENST00000462014_chr3_121707255_-_1407nt CGCCTCCAGGCCCCTTCCCGCGTCGCGACGCACGCTGCCCCGGAAGGCCGCGGCGCTGTAGTGCGGCGTGGGAGCCCCAGGTTCTTTAGT GGAAGAACGCGAAGCGAGGATGAGTGATCCGTGGAGGCAGTAACAGGCGCGGCGAGGGAGAAGTGATTCCCGAAGAATCAAGGCTGGGCC GGACCCGGTGGCCTGGCAACAGGGTAATAAGAGAAATGAAGCCAACAGGTACAGACCCAAGGATCTTATCTATAGCTGCTGAAGTTGCAA AAAGCCCTGAGCAGAATGTCCCTGTTATACTGTTGAAGTTAAAAGAAATAATAAACATCACACCTTTAGGAAGCTCAGAGTTGAAGAAAA TCAAACAAGATATATATTGTTATGATCTCATTCAATATTGCCTCTTGGTCCTCAGTCAAGATTATTCTCGAATCCAGGGTGGTTGGACTA CAATTTCCCAGCTTACACAGATATTAAGCCATTGCTGTGTGGGCTTGGAGCCAGGAGAAGATGCAGAGGAATTTTACAATGAATTACTTC CATCAGCTGCAGAAAATTTTCTAGTTTTGGGGAGACAATTACAAACATGTTTTATCAATGCAGCTAAGGCTGAAGAAAAAGATGAATTAC TACACTTTTTCCAAATTGTGACTGATTCTCTCTTCTGGCTTTTGGGAGGCCATGTTGAACTTATTCAGAATGTACTACAAAGTGATCATT TCTTACATTTACTGCAAGCTGACAATGTCCAAATAGGATCTGCAGTCATGATGATGCTACAGAATATACTACAGATCAACAGTGGTGATT TACTCAGAATAGGAAGAAAAGCCCTGTATTCAATTTTAGATGAAGTTATTTTCAAGCTTTTTTCAACTCCTAGTCCAGTTATAAGAAGTA CTGCTACAAAACTCCTACTGTTGATGGCTGAATCCCATCAGGAAATTTTGATTTTACTGAGACAAAGTACCTGCTACAAAGGACTCAGAC GTCTACTAAGTAAACAGGAAACTGGGACTGAATTCAGTCAAGAACTTAGACAGCTTGTTGGCCTTTTAAGCCCAATGGTCTATCAGGAAG TAGAAGAGCAGAAACTACATCAAGCAGCATGCTTGATTCAAGCCTATTGGAAGGGTTTTCAGACAAGAAAGAGATTAAAGAAGCTTCCAT CTGCTGTGATTGCTTTGCAGAGGAGTTTCAGATCCAAACGATCAAAGATGTTGCTGGAGATAAATAGGCAGAAGGAAGAAGAGGACCTCA AATTACAATTGCAACTTCAAAGACAGAGAGCCATGAGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGAAATAGTTCATCCAGGAGAAA >In-frame_IQCB1_ENST00000349820_chr3_121508920_-_ILDR1_ENST00000462014_chr3_121707255_-_963nt GGCCGCGGCGCTGTAGTGCGGCGTGGGAGCCCCAGGTTCTTTAGTGGAAGAACGCGAAGCGAGGATGAGTGATCCGTGGAGGCAGTAACA GGCGCGGCGAGGGAGAAGTGATTCCCGAAGAATCAAGGCTGGGCCGGACCCGGTGGCCTGGCAACAGGGTAATAAGAGAAATGAAGCCAA CAGGTACAGACCCAAGGATCTTATCTATAGCTGCTGAAGTTGCAAAAAGCCCTGAGCAGAATGTCCCTGTTATACTGTTGAAGTTAAAAG AAATAATAAACATCACACCTTTAGGAAGCTCAGAGTTGAAGAAAATCAAACAAGATATATATTGTTATGATCTCATTCAATATTGCCTCT TGGTCCTCAGTCAAGATTATTCTCGAATCCAGGGTGGTTGGACTACAATTTCCCAGCTTACACAGATATTAAGCCATTGCTGTGTGGGCT TGGAGCCAGGAGAAGATGCAGAGGAATTTTACAATGAATTACTTCCATCAGCTGCAGAAAATTTTCTAGTTTTGGGGAGACAATTACAAA CATGTTTTATCAATGCAGCTAAGGCTGAAGAAAAAGATGAATTACTACACTTTTTCCAAATTGTGACTGATTCTCTCTTCTGGCTTTTGG GAGGCCATGTTGAACTTATTCAGAATGTACTACAAAGTGATCATTTCTTACATTTACTGCAAGCTGACAATGTCCAAATAGGATCTGCAG TCATGATGATGCTACAGAATATACTACAGATCAACAGATCCAAACGATCAAAGATGTTGCTGGAGATAAATAGGCAGAAGGAAGAAGAGG ACCTCAAATTACAATTGCAACTTCAAAGACAGAGAGCCATGAGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGAAATAGTTCATCCAG |
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FusionGenePPI for IQCB1_ILDR1 |
| 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 |
| IQCB1 | IRAK2, RPGR, CALM2, ELAVL1, SIRT1, VCP, MRPL16, PAFAH1B1, PSMB1, MDH1, RNH1, MSR1, PSMA4, HSPA5, GDI2, YBX1, PKM, SLC25A3, FSCN1, ACTB, GPC4, UBE2K, HSP90AA1, OXCT1, HADHA, DNAJA1, LPCAT2, DYNLL1, PEBP1, EXOC1, FH, ANGPT2, GEMIN2, DPYSL2, NUP188, DSP, MYH9, PSMA3, PSMB5, PSMA6, PSMA7, MAPRE1, EMD, PGK1, CRISPLD2, CDIPT, CALB1, NEFM, ECH1, CKM, MAG, GRB10, HSPB1, PSMA2, DNM1, PSMB3, ENO3, HSPA8, KRT18, GAPDH, TPI1, RAB35, NUDT3, HSPA9, LOX, SKP1, FBXO2, PRDX1, RCN2, RAB14, HNRNPA2B1, TUBA1B, DTD1, RRBP1, PSMB2, TUBA4A, GNAI1, KRT17, FLNC, CALU, PSMA1, EXOC4, MAP1B, TRIM21, EIF5A, GSTM1, DSG1, CAB39, CALCOCO2, STXBP1, PSMB7, TUBB2A, SQRDL, THBS1, ITGA11, HADHB, RAB1A, GAS8, PSMB6, PGD, PSMA5, PFDN2, FLG2, GUK1, SEC16A, SERPINH1, ALDOA, HIRIP3, UBE3B, QDPR, ANKAR, ATP5A1, RAB3C, DDAH1, UCHL1, EEF1A1, SYN2, SVOPL, PSMB4, DCD, PEA15, BPNT1, ATP1A1, ALB, FYCO1, CKB, SGPL1, HSP90B1, LDHAL6A, YWHAB, TUBA1A, TUBA1C, KRT1, CPLX1, HNRNPF, UBB, KRT8, KRT78, KRT6C, SPATA24, KRT74, PGAM1, KRT9, SMN1, KRT2, HSPA6, TUBB8, CNTNAP2, TUBB6, PTPN11, GEMIN4, ANXA2, PCP4, BOLA2, IQGAP3, XPOT, KRT6B, KRT5, KRT10, KRT16, KRT14, NAP1L1, ERC2, TUBB4B, HBA2, FLNA, FAR1, MYO1C, HRNR, TUBB3, ASPH, SH3BGRL2, CEP290, SLC5A3, LTN1, KPRP, GDI1, KRT6A, VAMP2, PPP3R1, CKMT1B, TMEM189, TWF2, PCP4L1, HDAC6, PRKDC, IGHG1, KRT87P, TUBB, UBE2V1, ATP6V1G2, SPINT2, TRAK2, BSG, CA14, PEG10, LTBR, SCARA3, CEP162, AHI1, PCM1, CEP128, NIN, XPO1, RNF135, CDH5, CDC16, FCGRT, NCAPH2, SIRT6, ADAM32, CSGALNACT2, PCDHB11, EPHA1, CALM1, CNNM4, TMED1, PPID, PRKAR1A, RAC1, CEP97, RAF1, EXOC5 | ILDR1 | NEDD4L, NEDD4, ITCH, WWP1 |
| - 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 IQCB1_ILDR1 |
| 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 IQCB1_ILDR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ILDR1 | C1864818 | DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) | 1 | CTD_human;UNIPROT |
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