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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 4.40133533044631e-05 (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) | chr12:48151822C>GN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | RAPGEF3 | |||||||||||||
| Ensembl transcript ID | ENST00000541821 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | 5'UTR | |||||||||||||
| DNA changes | cDNA.66G>C g.13002G>C | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs11168230
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| regulatory features | DNase1, Open Chromatin, DNase1 Hypersensitive Site H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation PolII, Polymerase, RNA Polymerase II Promoter Associated, Regulatory Feature, Promoter like regulatory feature | |||||||||||||
| phyloP / phastCons |
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| splice sites |
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| distance from splice site | 40 | |||||||||||||
| Kozak consensus sequence altered? | no | |||||||||||||
| 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 | 628 / 628 | |||||||||||||
| chromosome | 12 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 2222 | |||||||||||||
| theoretical NMD boundary in CDS | 1544 | |||||||||||||
| length of CDS | 1713 | |||||||||||||
| coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position (for ins/del: last normal base / first normal base) | 66 | |||||||||||||
| gDNA position (for ins/del: last normal base / first normal base) | 13002 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 48151822 | |||||||||||||
| original gDNA sequence snippet | GCTGCTGGCAGGTGGGCCTGGCTGTGGAGGATAGCCCAGCT | |||||||||||||
| altered gDNA sequence snippet | GCTGCTGGCAGGTGGGCCTGCCTGTGGAGGATAGCCCAGCT | |||||||||||||
| original cDNA sequence snippet | GCTGCTGGCAGGTGGGCCTGGCTGTGGAGGATAGCCCAGCT | |||||||||||||
| altered cDNA sequence snippet | GCTGCTGGCAGGTGGGCCTGCCTGTGGAGGATAGCCCAGCT | |||||||||||||
| wildtype AA sequence | MRLEEHGKVV LVLERASQGA GPSRPPTPGR NRYTVMSGTP EKILELLLEA MGPDSSAHDP TETFLSDFLL THRVFMPSAQ LCAALLHHFH VEPAGGSEQE RSTYVCNKRQ QILRLVSQWV ALYGSMLHTD PVATSFLQKL SDLVGRDTRL SNLLREQWPE RRRCHRLENG CGNASPQMKA RNLPVWLPNQ DEPLPGSSCA IQVGDKVPYD ICRPDHSVLT LQLPVTASVR EVMAALAQED GWTKGQVLVK VNSAGDAIGL QPDARGVATS LGLNERLFVV NPQEVHELIP HPDQLGPTVG SAEGLDLVSA KDLAGQLTDH DWSLFNSIHQ VELIHYVLGP QHLRDVTTAN LERFMRRFNE LQYWVATELC LCPVPGPRAQ LLRKFIKLAA HLKEQKNLNS FFAVMFGLSN SAISRLAHTW ERLPHKVRKL YSALERLLDP SWNHRVYRLA LAKLSPPVIP FMPLLLKDMT FIHEGNHTLV ENLINFEKMR MMARAARMLH HCRSHNPVPL SPLRSRVSHL HEDSQVARIS TCSEQSLSTR SPASTWAYVQ QLKVIDNQRE LSRLSRELEP * | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 1.01 s | |||||||||||||