Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.993467357610941 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:13068132T>CN/A show variant in all transcripts   IGV
HGNC symbol CEP192
Ensembl transcript ID ENST00000325971
Genbank transcript ID N/A
UniProt peptide Q8TEP8
alteration type single base exchange
alteration region CDS
DNA changes c.2866T>C
cDNA.4459T>C
g.76772T>C
AA changes S956P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 956
frameshift no
known variant Reference ID: rs578208
databasehomozygous (C/C)heterozygousallele carriers
1000G14408622302
ExAC26966-211655801
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2460.959
3.9891
(flanking)5.5691
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased76769wt: 0.34 / mu: 0.48wt: GCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTG
mu: GCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTG		 aagg|AATC
Acc marginally increased76767wt: 0.7541 / mu: 0.8265 (marginal change - not scored)wt: GCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTG
mu: GCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTG		 ccaa|GGAA
Acc marginally increased76766wt: 0.7787 / mu: 0.8373 (marginal change - not scored)wt: GGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCT
mu: GGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCT		 tcca|AGGA
Acc marginally increased76765wt: 0.8634 / mu: 0.8742 (marginal change - not scored)wt: TGGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCC
mu: TGGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCC		 ttcc|AAGG
Donor increased76767wt: 0.66 / mu: 0.90wt: TTCCAAGGAATCCGT
mu: TTCCAAGGAACCCGT		 CCAA|ggaa
Donor marginally increased76775wt: 0.8489 / mu: 0.8835 (marginal change - not scored)wt: AATCCGTCCGAGCTC
mu: AACCCGTCCGAGCTC		 TCCG|tccg
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      956VAWRCFTFSKESVRAPVEVAPCAD
mutated  not conserved    956VAWRCFTFSKEPVRAP
Ptroglodytes  not conserved  ENSPTRG00000009886  956VAWRCFTFSKEPVRAP
Mmulatta  not conserved  ENSMMUG00000002512  950VAWRCFMFSKEPVRAPVEAAPC
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000024542  1527VAWRCFTFSKEPIHVSLK
Ggallus  not conserved  ENSGALG00000013880  604VAWRCFTFSKEPVNSSNGQSLQM
Trubripes  not conserved  ENSTRUG00000012415  131TAWRCFTFSKQPVTTTSEPTQQA
Drerio  not conserved  ENSDARG00000074974  929GLSKSPVSMSMDSSFNFG
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000019662  154TAWRCFTFAKDPASLTAEYSH-V
protein features
start (aa)end (aa)featuredetails 
11551155MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11591159MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15141514MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15191519CONFLICTR -> Q (in Ref. 2).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5826 / 5826
position (AA) of stopcodon in wt / mu AA sequence 1942 / 1942
position of stopcodon in wt / mu cDNA 7419 / 7419
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 1594 / 1594
chromosome 18
strand 1
last intron/exon boundary 7281
theoretical NMD boundary in CDS 5637
length of CDS 5826
coding sequence (CDS) position 2866
cDNA position
(for ins/del: last normal base / first normal base)		 4459
gDNA position
(for ins/del: last normal base / first normal base)		 76772
chromosomal position
(for ins/del: last normal base / first normal base)		 13068132
original gDNA sequence snippet GTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTGGAA
altered gDNA sequence snippet GTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTGGAA
original cDNA sequence snippet GTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTGGAA
altered cDNA sequence snippet GTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTGGAA
wildtype AA sequence MKTSDLVPSF GYFIRSPEKR EPIALIRKSD VSRGNLEKEM AHLNHDLYSG DLNEQSQAQL
SEGSITLQVE AVESTSQVDE NDVTLTADKG KTEDTFFMSN KPQRYKDKLP DSGDSMLRIS
TIASAIAEAS VNTDPSQLAA MIKALSNKTR DKTFQEDEKQ KDYSHVRHFL PNDLEKSNGS
NALDMEKYLK KTEVSRYESA LENFSRASMS DTWDLSLPKE QTTQDIHPVD LSATSVSVRA
PEENTAAIVY VENGESENQE SFRTINSSNS VTNRENNSAV VDVKTCSIDN KLQDVGNDEK
ATSISTPSDS YSSVRNPRIT SLCLLKDCEE IRDNRENQRQ NECVSEISNS EKHVTFENHR
IVSPKNSDLK NTSPEHGGRG SEDEQESFRP STSPLSHSSP SEISGTSSSG CALESFGSAA
QQQQPPCEQE LSPLVCSPAG VSRLTYVSEP ESSYPTTATD DALEDRKSDI TSELSTTIIQ
GSPAALEERA MEKLREKVPF QNRGKGTLSS IIQNNSDTRK ATETTSLSSK PEYVKPDFRW
SKDPSSKSGN LLETSEVGWT SNPEELDPIR LALLGKSGLS CQVGSATSHP VSCQEPIDED
QRISPKDKST AGREFSGQVS HQTTSENQCT PIPSSTVHSS VADMQNMPAA VHALLTQPSL
SAAPFAQRYL GTLPSTGSTT LPQCHAGNAT VCGFSGGLPY PAVAGEPVQN SVAVGICLGS
NIGSGWMGTS SLCNPYSNTL NQNLLSTTKP FPVPSVGTNC GIEPWDSGVT SGLGSVRVPE
ELKLPHACCV GIASQTLLSV LNPTDRWLQV SIGVLSISVN GEKVDLSTYR CLVFKNKAII
RPHATEEIKV LFIPSSPGVF RCTFSVASWP CSTDAETIVQ AEALASTVTL TAIAESPVIE
VETEKKDVLD FGDLTYGGWK ALPLKLINRT HATVPIRLII NANAVAWRCF TFSKESVRAP
VEVAPCADVV TRLAGPSVVN HMMPASYDGQ DPEFLMIWVL FHSPKKQISS SDILDSAEEF
SAKVDIEVDS PNPTPVLRSV SLRARAGIAR IHAPRDLQTM HFLAKVASSR KQHLPLKNAG
NIEVYLDIKV PEQGSHFSVD PKNLLLKPGE EHEVIVSFTP KDPEACEERI LKIFVQPFGP
QYEVVLKGEV ISSGSKPLSP GPCLDIPSIL SNKQFLAWGG VPLGRTQLQK LALRNNSAST
TQHLRLLIRG QDQDCFQLQN TFGSEQRLTS NCEIRIHPKE DIFISVLFAP TRLSCMLARL
EIKQLGNRSQ PGIKFTIPLS GYGGTSNLIL EGVKKLSDSY MVTVNGLVPG KESKIVFSVR
NTGSRAAFVK AVGFKDSQKK VLLDPKVLRI FPDKFVLKER TQENVTLIYN PSDRGINNKT
ATELSTVYLF GGDEISRQQY RRALLHKPEM IKQILPEHSV LQNINFVEAF QDELLVTEVY
DLPQRPNDVQ LFYGSMCKII LSVIGEFRDC ISSREFLQPS SKASLESTSD LGASGKHGGN
VSLDVLPVKG PQGSPLLSRA ARPPLDQLAS EEPWTVLPEH LILVAPSPCD MAKTGRFQIV
NNSVRLLRFE LCWPAHCLTV TPQHGCVAPE SKLQILVSPN SSLSTKQSMF PWSGLIYIHC
DDGQKKIVKV QIREDLTQVE LLTRLTSKPF GILSPVSEPS VSHLVKPMTK PPSTKVEIRN
KSITFPTTEP GETSESCLEL ENHGTTDVKW HLSSLAPPYV KGVDESGDVF RATYAAFRCS
PISGLLESHG IQKVSITFLP RGRGDYAQFW DVECHPLKEP HMKHTLRFQL SGQSIEAENE
PENACLSTDS LIKIDHLVKP RRQAVSEASA RIPEQLDVTA RGVYAPEDVY RFRPTSVGES
RTLKVNLRNN SFITHSLKFL SPREPFYVKH SKYSLRAQHY INMPVQFKPK SAGKFEALLV
IQTDEGKSIA IRLIGEALGK N*
mutated AA sequence MKTSDLVPSF GYFIRSPEKR EPIALIRKSD VSRGNLEKEM AHLNHDLYSG DLNEQSQAQL
SEGSITLQVE AVESTSQVDE NDVTLTADKG KTEDTFFMSN KPQRYKDKLP DSGDSMLRIS
TIASAIAEAS VNTDPSQLAA MIKALSNKTR DKTFQEDEKQ KDYSHVRHFL PNDLEKSNGS
NALDMEKYLK KTEVSRYESA LENFSRASMS DTWDLSLPKE QTTQDIHPVD LSATSVSVRA
PEENTAAIVY VENGESENQE SFRTINSSNS VTNRENNSAV VDVKTCSIDN KLQDVGNDEK
ATSISTPSDS YSSVRNPRIT SLCLLKDCEE IRDNRENQRQ NECVSEISNS EKHVTFENHR
IVSPKNSDLK NTSPEHGGRG SEDEQESFRP STSPLSHSSP SEISGTSSSG CALESFGSAA
QQQQPPCEQE LSPLVCSPAG VSRLTYVSEP ESSYPTTATD DALEDRKSDI TSELSTTIIQ
GSPAALEERA MEKLREKVPF QNRGKGTLSS IIQNNSDTRK ATETTSLSSK PEYVKPDFRW
SKDPSSKSGN LLETSEVGWT SNPEELDPIR LALLGKSGLS CQVGSATSHP VSCQEPIDED
QRISPKDKST AGREFSGQVS HQTTSENQCT PIPSSTVHSS VADMQNMPAA VHALLTQPSL
SAAPFAQRYL GTLPSTGSTT LPQCHAGNAT VCGFSGGLPY PAVAGEPVQN SVAVGICLGS
NIGSGWMGTS SLCNPYSNTL NQNLLSTTKP FPVPSVGTNC GIEPWDSGVT SGLGSVRVPE
ELKLPHACCV GIASQTLLSV LNPTDRWLQV SIGVLSISVN GEKVDLSTYR CLVFKNKAII
RPHATEEIKV LFIPSSPGVF RCTFSVASWP CSTDAETIVQ AEALASTVTL TAIAESPVIE
VETEKKDVLD FGDLTYGGWK ALPLKLINRT HATVPIRLII NANAVAWRCF TFSKEPVRAP
VEVAPCADVV TRLAGPSVVN HMMPASYDGQ DPEFLMIWVL FHSPKKQISS SDILDSAEEF
SAKVDIEVDS PNPTPVLRSV SLRARAGIAR IHAPRDLQTM HFLAKVASSR KQHLPLKNAG
NIEVYLDIKV PEQGSHFSVD PKNLLLKPGE EHEVIVSFTP KDPEACEERI LKIFVQPFGP
QYEVVLKGEV ISSGSKPLSP GPCLDIPSIL SNKQFLAWGG VPLGRTQLQK LALRNNSAST
TQHLRLLIRG QDQDCFQLQN TFGSEQRLTS NCEIRIHPKE DIFISVLFAP TRLSCMLARL
EIKQLGNRSQ PGIKFTIPLS GYGGTSNLIL EGVKKLSDSY MVTVNGLVPG KESKIVFSVR
NTGSRAAFVK AVGFKDSQKK VLLDPKVLRI FPDKFVLKER TQENVTLIYN PSDRGINNKT
ATELSTVYLF GGDEISRQQY RRALLHKPEM IKQILPEHSV LQNINFVEAF QDELLVTEVY
DLPQRPNDVQ LFYGSMCKII LSVIGEFRDC ISSREFLQPS SKASLESTSD LGASGKHGGN
VSLDVLPVKG PQGSPLLSRA ARPPLDQLAS EEPWTVLPEH LILVAPSPCD MAKTGRFQIV
NNSVRLLRFE LCWPAHCLTV TPQHGCVAPE SKLQILVSPN SSLSTKQSMF PWSGLIYIHC
DDGQKKIVKV QIREDLTQVE LLTRLTSKPF GILSPVSEPS VSHLVKPMTK PPSTKVEIRN
KSITFPTTEP GETSESCLEL ENHGTTDVKW HLSSLAPPYV KGVDESGDVF RATYAAFRCS
PISGLLESHG IQKVSITFLP RGRGDYAQFW DVECHPLKEP HMKHTLRFQL SGQSIEAENE
PENACLSTDS LIKIDHLVKP RRQAVSEASA RIPEQLDVTA RGVYAPEDVY RFRPTSVGES
RTLKVNLRNN SFITHSLKFL SPREPFYVKH SKYSLRAQHY INMPVQFKPK SAGKFEALLV
IQTDEGKSIA IRLIGEALGK N*
speed 1.32 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project