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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999994153244729 (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) | chr14:23992742T>GN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | ZFHX2 | |||||||||||||
| Ensembl transcript ID | ENST00000560206 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | 3'UTR | |||||||||||||
| DNA changes | cDNA.9819A>C g.32660A>C | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs223124
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| regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation | |||||||||||||
| phyloP / phastCons |
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| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 2674 | |||||||||||||
| 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 | signal is predicted to be ok | |||||||||||||
| conservation nucleotide level for all changes - no scoring up to now | N/A | |||||||||||||
| position of start ATG in wt / mu cDNA | 357 / 357 | |||||||||||||
| chromosome | 14 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 2916 | |||||||||||||
| theoretical NMD boundary in CDS | 2509 | |||||||||||||
| length of CDS | 2595 | |||||||||||||
| coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position (for ins/del: last normal base / first normal base) | 9819 | |||||||||||||
| gDNA position (for ins/del: last normal base / first normal base) | 32660 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 23992742 | |||||||||||||
| original gDNA sequence snippet | CTGGGAGCACTGGGGGCAGCAGTGAGGGCCTCTTAGCAGCC | |||||||||||||
| altered gDNA sequence snippet | CTGGGAGCACTGGGGGCAGCCGTGAGGGCCTCTTAGCAGCC | |||||||||||||
| original cDNA sequence snippet | CTGGGAGCACTGGGGGCAGCAGTGAGGGCCTCTTAGCAGCC | |||||||||||||
| altered cDNA sequence snippet | CTGGGAGCACTGGGGGCAGCCGTGAGGGCCTCTTAGCAGCC | |||||||||||||
| wildtype AA sequence | MATLNSASTT GTTPSPGHNA PSLPSDTFSS STPSDPVTKD PPAASSTSEN MRSSEPGGQL LESGCGLVPP KEIGEPQEGP DCGHFPPNDP GVEKDKEQEE EEEGLPPMDL SNHLFFTAGG EAYLVAKLSL PGGSELLLPK GFPWGEAGIK EEPSLPFLAY PPPSHLTALH IQHGFDPIQG FSSSDQILSH DTSAPSPAAC EERHGAFWSY QLAPNPPGDP KDGPMGNSGG NHVAVFWLCL LCRLGFSKPQ AFMDHTQSHG VKLTPAQYQG LSGSPAVLQE GDEGCKALIS FLEPKLPARP SSDIPLDNSS TVNMEANVAQ TEDGPPEAEV QALILLDEEV MALSPPSPPT ATWDPSPTQA KESPVAAGEA GPDWFPEGQE EDGGLCPPLN QSSPTSKEGG TLPAPVGSPE DPSDPPQPYR LADDYTPAPA AFQGLSLSSH MSLLHSRNSC KTLKCPKCNW HYKYQQTLDV HMREKHPESN SHCSYCSAGG AHPRLARGES YNCGYKPYRC DVCNYSTTTK GNLSIHMQSD KHLANLQGFQ AGPGGQGSPP EASLPPSAGD KEPKTKSSWQ CKVCSYETNI SRNLRIHMTS EKHMQNVLML HQGLPLGLPP GLMGPGPPPP PGATPTSPPE LFQYFGPQAL GQPQTPLAGP GLRPDKPLEA QLLLNGFHHV GAPARKFPTS APGSLSPDAH LPPSQLLGSS SDSLPTSPPP DDSLSLKVFR CLVCQAFSTD SLELLLYHCS IGRSLPEAEW KEVAGDTHRC KLCCYGTQLK ANFQLHLKTD KHAQKYQLAA HLREGGGAMG TPSPASLGDG APYGSVSPLH LRCNICDFES NSKEKMQLHA RGAAHEENSQ IYKDRNWTLN KMIS* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 1.12 s | |||||||||||||