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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999993355195883 (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) | chr1:227922918A>CN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | SNAP47 | |||||||||||||
| Ensembl transcript ID | ENST00000366760 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.6679A>C | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs2295994
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| regulatory features | ETS1, Transcription Factor, ETS1 Transcription Factor Binding ELF1, Transcription Factor, ELF1 Transcription Factor Binding Promoter Associated, Regulatory Feature, Promoter like regulatory feature H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation Max, Transcription Factor, Max TF binding Gabp, Transcription Factor, Gabp TF binding ZZZ3, Transcription Factor, ZZZ3 Transcription Factor Binding H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation E2F6, Transcription Factor, E2F6 Transcription Factor Binding PolII, Polymerase, RNA Polymerase II Srf, Transcription Factor, Srf TF binding Egr1, Transcription Factor, Egr1 Transcription Factor Binding SIX5, Transcription Factor, SIX5 Transcription Factor Binding BCLAF1, Transcription Factor, BCLAF1 Transcription Factor Binding E2F4, Transcription Factor, E2F4 Transcription Factor Binding Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding HEY1, Transcription Factor, HEY1 Transcription Factor Binding Cmyc, Transcription Factor, Cmyc TF binding H3K18ac, Histone, Histone 3 Lysine 18 Acetylation H3K79me2, Histone, Histone 3 Lysine 79 di-methylation Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding Cjun, Transcription Factor, Cjun TF binding H3K9ac, Histone, Histone 3 Lysine 9 Acetylation Yy1, Transcription Factor, Yy1 Transcription Factor Binding Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding H3K27ac, Histone, Histone 3 Lysine 27 Acetylation H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding TAF1, Transcription Factor, TAF1 Transcription Factor Binding H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation E2F1, Transcription Factor, E2F1 Transcription Factor Binding ZEB1, Transcription Factor, ZEB1 Transcription Factor Binding DNase1, Open Chromatin, DNase1 Hypersensitive Site ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding HNF4A, Transcription Factor, HNF4A Transcription Factor Binding | |||||||||||||
| phyloP / phastCons |
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| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 6431 | |||||||||||||
| 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 | 225 / 225 | |||||||||||||
| chromosome | 1 | |||||||||||||
| strand | 1 | |||||||||||||
| last intron/exon boundary | 747 | |||||||||||||
| theoretical NMD boundary in CDS | 472 | |||||||||||||
| length of CDS | 669 | |||||||||||||
| 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) | 6679 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 227922918 | |||||||||||||
| original gDNA sequence snippet | GCCTGGCCGACGCCGGGGACATCGACCCCCAGGCCTCGGAA | |||||||||||||
| altered gDNA sequence snippet | GCCTGGCCGACGCCGGGGACCTCGACCCCCAGGCCTCGGAA | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | MTSCEPFGKE GILIKIPAVI SHRTESHVKP GRLTVLVSGL EIHDSSSLLM HRFEREDVDD IKVHSPYEIS IRQRFIGKPD MAYRLISAKM PEVIPILEVQ FSKKMELLED ALVLRSARTS SPAEKSCSVW HAASGLMGRT LHREPPAGDQ EGTALHLQTS LPALSEADTQ ELTQILRRMK GLALEAESEL ERQDEALDGV AAAVDRATLT IDKHNRRMKR LT* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.48 s | |||||||||||||