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Fusion gene ID: 34963 |
FusionGeneSummary for SMPD4P1_KLHL22 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMPD4P1_KLHL22 | Fusion gene ID: 34963 | Hgene | Tgene | Gene symbol | SMPD4P1 | KLHL22 | Gene ID | 645280 | 84861 |
| Gene name | sphingomyelin phosphodiesterase 4 pseudogene 1 | kelch like family member 22 | |
| Synonyms | - | KELCHL | |
| Cytomap | 22q11.21 | 22q11.21 | |
| Type of gene | pseudo | protein-coding | |
| Description | sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1 | kelch-like protein 22kelch-like 22 | |
| Modification date | 20180329 | 20180523 | |
| UniProtAcc | Q53GT1 | ||
| Ensembl transtripts involved in fusion gene | ENST00000443839, | ENST00000328879, ENST00000440659, ENST00000470335, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 4 X 4 X 3=48 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMPD4P1 [Title/Abstract] AND KLHL22 [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 | KLHL22 | GO:0006513 | protein monoubiquitination | 23455478 |
| 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 | HNSC | TCGA-CV-6937-01A | SMPD4P1 | chr22 | 20967950 | - | KLHL22 | chr22 | 20825802 | - |
| * 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-3CDS | ENST00000443839 | ENST00000328879 | SMPD4P1 | chr22 | 20967950 | - | KLHL22 | chr22 | 20825802 | - |
| intron-intron | ENST00000443839 | ENST00000440659 | SMPD4P1 | chr22 | 20967950 | - | KLHL22 | chr22 | 20825802 | - |
| intron-intron | ENST00000443839 | ENST00000470335 | SMPD4P1 | chr22 | 20967950 | - | KLHL22 | chr22 | 20825802 | - |
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FusionProtFeatures for SMPD4P1_KLHL22 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMPD4P1 | KLHL22 |