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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999998236256019 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | ||||||||||||
| Summary |
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hyperlink | ||||||||||||
| analysed issue | analysis result | |||||||||||||
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| name of alteration | no title | |||||||||||||
| alteration (phys. location) | chr20:56098733T>CN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | CTCFL | |||||||||||||
| Ensembl transcript ID | ENST00000502686 | |||||||||||||
| Genbank transcript ID | NM_001269054 | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.1976A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs6025606
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| regulatory features | H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H3K79me2, Histone, Histone 3 Lysine 79 di-methylation H3K9ac, Histone, Histone 3 Lysine 9 Acetylation H3K27ac, Histone, Histone 3 Lysine 27 Acetylation H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation | |||||||||||||
| phyloP / phastCons |
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| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 1351 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| conservation protein level for non-synonymous changes | N/A | |||||||||||||
| protein features | N/A | |||||||||||||
| length of protein | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| conservation nucleotide level for all changes - no scoring up to now | N/A | |||||||||||||
| position of start ATG in wt / mu cDNA | 113 / 113 | |||||||||||||
| chromosome | 20 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 1167 | |||||||||||||
| theoretical NMD boundary in CDS | 1004 | |||||||||||||
| length of CDS | 1212 | |||||||||||||
| coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position (for ins/del: last normal base / first normal base) | N/A | |||||||||||||
| gDNA position (for ins/del: last normal base / first normal base) | 1976 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 56098733 | |||||||||||||
| original gDNA sequence snippet | CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG | |||||||||||||
| altered gDNA sequence snippet | CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | MFTSSRMSSF NRHMKTHTSE KPHLCHLCLK TFRTVTLLRN HVNTHTGTRP YKCNDCNMAF VTSGELVRHR RYKHTHEKPF KCSMCKYASV EASKLKRHVR SHTGERPFQC CQCSYASRDT YKLKRHMRTH SGEKPYECHI CHTRFTQSGT MKIHILQKHG ENVPKYQCPH CATIIARKSD LRVHMRNLHA YSAAELKCRY CSAVFHERYA LIQHQKTHKN EKRFKCKHCS YACKQERHMT AHIRTHTGEK PFTCLSCNKC FRQKQLLNAH FRKYHDANFI PTVYKCSKCG KGFSRWINLH RHSEKCGSGE AKSAASGKGR RTRKRKQTIL KEATKGQKEA AKGWKEAANG DGVISAHRNL CLLGSSDSHA SVSGAGITDA RHHAWLIVLL FLVEMGFYHV SHS* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 1.30 s | |||||||||||||