|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 17584 |
FusionGeneSummary for INTS4_KCTD21 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: INTS4_KCTD21 | Fusion gene ID: 17584 | Hgene | Tgene | Gene symbol | INTS4 | KCTD21 | Gene ID | 92105 | 283219 |
| Gene name | integrator complex subunit 4 | potassium channel tetramerization domain containing 21 | |
| Synonyms | INT4|MST093 | KCASH2 | |
| Cytomap | 11q14.1 | 11q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | integrator complex subunit 4MSTP093 | BTB/POZ domain-containing protein KCTD21potassium channel tetramerisation domain containing 21potassium channel tetramerization domain-containing protein 21 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q96HW7 | Q4G0X4 | |
| Ensembl transtripts involved in fusion gene | ENST00000534064, ENST00000535943, ENST00000525931, ENST00000529807, ENST00000527522, | ENST00000340067, | |
| Fusion gene scores | * DoF score | 17 X 9 X 9=1377 | 5 X 2 X 3=30 |
| # samples | 18 | 6 | |
| ** MAII score | log2(18/1377*10)=-2.93545974780529 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/30*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: INTS4 [Title/Abstract] AND KCTD21 [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 | INTS4 | GO:0016180 | snRNA processing | 16239144 |
| Tgene | KCTD21 | GO:0006511 | ubiquitin-dependent protein catabolic process | 21472142 |
| Tgene | KCTD21 | GO:0045879 | negative regulation of smoothened signaling pathway | 21472142 |
| 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 | RV | UCEC | TCGA-PG-A915-01A | INTS4 | chr11 | 77666988 | - | KCTD21 | chr11 | 77885629 | - |
| * 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 |
| 5CDS-5UTR | ENST00000534064 | ENST00000340067 | INTS4 | chr11 | 77666988 | - | KCTD21 | chr11 | 77885629 | - |
| intron-5UTR | ENST00000535943 | ENST00000340067 | INTS4 | chr11 | 77666988 | - | KCTD21 | chr11 | 77885629 | - |
| intron-5UTR | ENST00000525931 | ENST00000340067 | INTS4 | chr11 | 77666988 | - | KCTD21 | chr11 | 77885629 | - |
| 5CDS-5UTR | ENST00000529807 | ENST00000340067 | INTS4 | chr11 | 77666988 | - | KCTD21 | chr11 | 77885629 | - |
| intron-5UTR | ENST00000527522 | ENST00000340067 | INTS4 | chr11 | 77666988 | - | KCTD21 | chr11 | 77885629 | - |
Top |
FusionProtFeatures for INTS4_KCTD21 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| INTS4 | KCTD21 |
| Component of the Integrator (INT) complex, a complexinvolved in the small nuclear RNAs (snRNA) U1 and U2 transcriptionand in their 3'-box-dependent processing. The Integrator complexis associated with the C-terminal domain (CTD) of RNA polymeraseII largest subunit (POLR2A) and is recruited to the U1 and U2snRNAs genes (Probable). Mediates recruitment of cytoplasmicdynein to the nuclear envelope, probably as component of the INTcomplex (PubMed:23904267). {ECO:0000269|PubMed:23904267,ECO:0000305|PubMed:16239144}. | Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating theubiquitination and subsequent proteasomal degradation of targetproteins. Promotes the ubiquitination of HDAC1. Can function asantagonist of the Hedgehog pathway by affecting the nucleartransfer of transcription factor GLI1; the function probablyoccurs via HDAC1 down-regulation, keeping GLI1 acetylated andinactive. Inhibits cell growth and tumorigenicity ofmedulloblastoma (MDB) (PubMed:21472142).{ECO:0000269|PubMed:21472142}. |
| 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 |
Top |
FusionGeneSequence for INTS4_KCTD21 |
| 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). |
Top |
FusionGenePPI for INTS4_KCTD21 |
| 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 |
| INTS4 | RPAP2, INTS1, INTS3, INTS5, INTS6, SHFM1, INTS10, INTS9, HECW2, HGS, ZMIZ2, USHBP1, HLA-B, SLAMF1, VSIG4, LOC554223, ISLR, INTS4P2, TGOLN2, FAF2, C7orf26, CPSF3L, FAM98A, ASUN, NTRK1, PPP2CA, PPP2CB, PPP2R1A, VWA9, SIGLECL1, BMP2K, VSIG1, PMEL, PDCD1, CD70, GORASP1, AP2A1, CD79B, SIGLEC5, ADAM32, PCDHA12, AP2A2, CLEC2D | KCTD21 | CUL3, DNAJB11, DOC2A, KLHL14, MRGBP, WDFY1, LILRB3, TRIB2, DUSP22 |
| - 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 |
Top |
RelatedDrugs for INTS4_KCTD21 |
| 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 |
Top |
RelatedDiseases for INTS4_KCTD21 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | INTS4 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|