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Fusion gene ID: 16569 |
FusionGeneSummary for HNRNPD_TMEM67 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HNRNPD_TMEM67 | Fusion gene ID: 16569 | Hgene | Tgene | Gene symbol | HNRNPD | TMEM67 | Gene ID | 3184 | 91147 |
| Gene name | heterogeneous nuclear ribonucleoprotein D | transmembrane protein 67 | |
| Synonyms | AUF1|AUF1A|HNRPD|P37|hnRNPD0 | JBTS6|MECKELIN|MKS3|NPHP11|TNEM67 | |
| Cytomap | 4q21.22 | 8q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | heterogeneous nuclear ribonucleoprotein D0ARE-binding protein AUFI, type AAU-rich element RNA binding protein 1, 37kDahnRNP D0 | meckelinmeckel syndrome type 3 protein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q14103 | Q5HYA8 | |
| Ensembl transtripts involved in fusion gene | ENST00000313899, ENST00000353341, ENST00000543098, ENST00000352301, ENST00000508119, ENST00000541060, | ENST00000453321, ENST00000409623, ENST00000425545, | |
| Fusion gene scores | * DoF score | 8 X 7 X 4=224 | 4 X 4 X 4=64 |
| # samples | 8 | 4 | |
| ** MAII score | log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HNRNPD [Title/Abstract] AND TMEM67 [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 |
| ChiTaRS3.1 | BG988244 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| * 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 |
| intron-3UTR | ENST00000313899 | ENST00000453321 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000313899 | ENST00000409623 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-intron | ENST00000313899 | ENST00000425545 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000353341 | ENST00000453321 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000353341 | ENST00000409623 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-intron | ENST00000353341 | ENST00000425545 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000543098 | ENST00000453321 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000543098 | ENST00000409623 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-intron | ENST00000543098 | ENST00000425545 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000352301 | ENST00000453321 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000352301 | ENST00000409623 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-intron | ENST00000352301 | ENST00000425545 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000508119 | ENST00000453321 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000508119 | ENST00000409623 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-intron | ENST00000508119 | ENST00000425545 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000541060 | ENST00000453321 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-3UTR | ENST00000541060 | ENST00000409623 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
| intron-intron | ENST00000541060 | ENST00000425545 | HNRNPD | chr4 | 83275470 | + | TMEM67 | chr8 | 94828925 | + |
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FusionProtFeatures for HNRNPD_TMEM67 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HNRNPD | TMEM67 |
| Required for ciliary structure and function. Part of thetectonic-like complex which is required for tissue-specificciliogenesis and may regulate ciliary membrane composition (Bysimilarity). Involved in centrosome migration to the apical cellsurface during early ciliogenesis. Involved in the regulation ofcilia length and appropriate number through the control ofcentrosome duplication. Required for cell branching morphology.Essential for endoplasmic reticulum-associated degradation (ERAD)of surfactant protein C (SFTPC). {ECO:0000250,ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853,ECO:0000269|PubMed:19596800, ECO:0000269|PubMed:19815549}. |
| 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 HNRNPD_TMEM67 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for HNRNPD_TMEM67 |
| 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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RelatedDrugs for HNRNPD_TMEM67 |
| 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 |
| Hgene | HNRNPD | Q14103 | DB11638 | Artenimol | Heterogeneous nuclear ribonucleoprotein D0 | small molecule | approved|investigational |
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RelatedDiseases for HNRNPD_TMEM67 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TMEM67 | C1846357 | Meckel syndrome type 3 | 7 | CTD_human;UNIPROT |
| Tgene | TMEM67 | C1857662 | COACH syndrome | 5 | CTD_human;ORPHANET;UNIPROT |
| Tgene | TMEM67 | C1853153 | JOUBERT SYNDROME 6 | 4 | CTD_human;UNIPROT |
| Tgene | TMEM67 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | TMEM67 | C0752166 | Bardet-Biedl Syndrome | 1 | CTD_human |
| Tgene | TMEM67 | C1691228 | Cystic Kidney Diseases | 1 | CTD_human |
| Tgene | TMEM67 | C3150796 | NEPHRONOPHTHISIS 11 | 1 | CTD_human;UNIPROT |
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