|
|
mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 5.88213418637044e-13 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | ||||||||||||
| Summary |
|
hyperlink | ||||||||||||
| analysed issue | analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| name of alteration | no title | |||||||||||||
| alteration (phys. location) | chr19:871135A>GN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | MED16 | |||||||||||||
| Ensembl transcript ID | ENST00000312090 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | Q9Y2X0 | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | CDS | |||||||||||||
| DNA changes | c.2274T>C cDNA.2400T>C g.22084T>C | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | no | |||||||||||||
| known variant | Reference ID: rs1683569
| |||||||||||||
| regulatory features | Promoter Associated, Regulatory Feature, Promoter like regulatory feature PolII, Polymerase, RNA Polymerase II H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation Gene Associated, Regulatory Feature, Gene associated regulatory feature H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation DNase1, Open Chromatin, DNase1 Hypersensitive Site | |||||||||||||
| phyloP / phastCons |
| |||||||||||||
| splice sites |
| |||||||||||||
| distance from splice site | 99 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| conservation protein level for non-synonymous changes | N/A | |||||||||||||
| protein features |
| |||||||||||||
| length of protein | normal | |||||||||||||
| AA sequence altered | no | |||||||||||||
| position of stopcodon in wt / mu CDS | 2583 / 2583 | |||||||||||||
| position (AA) of stopcodon in wt / mu AA sequence | 861 / 861 | |||||||||||||
| position of stopcodon in wt / mu cDNA | 2709 / 2709 | |||||||||||||
| 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 | 127 / 127 | |||||||||||||
| chromosome | 19 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 2583 | |||||||||||||
| theoretical NMD boundary in CDS | 2406 | |||||||||||||
| length of CDS | 2583 | |||||||||||||
| coding sequence (CDS) position | 2274 | |||||||||||||
| cDNA position (for ins/del: last normal base / first normal base) | 2400 | |||||||||||||
| gDNA position (for ins/del: last normal base / first normal base) | 22084 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 871135 | |||||||||||||
| original gDNA sequence snippet | CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA | |||||||||||||
| altered gDNA sequence snippet | CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA | |||||||||||||
| original cDNA sequence snippet | CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA | |||||||||||||
| altered cDNA sequence snippet | CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA | |||||||||||||
| wildtype AA sequence | MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICF PSTGPCSVWV LLGWQPLPGR DEGPASEPDE ALVDECCLLP SQLLIPSLDW LPASDGLVSR LQPKQPLRLQ FGRAPTLPGS AATLQLDGLA RAPGQPKIDH LRRLHLGACP TEECKACTRC GCVTMLKSPN RTTAVKQWEQ RWIKNCLCGG LWWRVPLSYP * | |||||||||||||
| mutated AA sequence | MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICF PSTGPCSVWV LLGWQPLPGR DEGPASEPDE ALVDECCLLP SQLLIPSLDW LPASDGLVSR LQPKQPLRLQ FGRAPTLPGS AATLQLDGLA RAPGQPKIDH LRRLHLGACP TEECKACTRC GCVTMLKSPN RTTAVKQWEQ RWIKNCLCGG LWWRVPLSYP * | |||||||||||||
| speed | 0.60 s | |||||||||||||