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 ENST00000430049
Genbank transcript ID N/A
UniProt peptide Q8TEP8
alteration type single base exchange
alteration region CDS
DNA changes c.3229T>C
cDNA.3270T>C
g.76772T>C
AA changes S1077P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1077
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      1077VAWRCFTFSKESVRAPVEVAPCAD
mutated  not conserved    1077VAWRCFTFSKEPVRA
Ptroglodytes  not conserved  ENSPTRG00000009886  956VAWRCFTFSKEPVRAPVEVAPCA
Mmulatta  not conserved  ENSMMUG00000002512  950VAWRCFMFSKEPVRAPVEAAPC
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000024542  1527VAWRCFTFSKEPIHVSLKAAPHA
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 6189 / 6189
position (AA) of stopcodon in wt / mu AA sequence 2063 / 2063
position of stopcodon in wt / mu cDNA 6230 / 6230
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 42 / 42
chromosome 18
strand 1
last intron/exon boundary 6092
theoretical NMD boundary in CDS 6000
length of CDS 6189
coding sequence (CDS) position 3229
cDNA position
(for ins/del: last normal base / first normal base)		 3270
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 MDGCLDTETP TVSIQENVDV ASLKPISDSG INFTDAIWSP TCERRTCECH ESIEKNKDKT
DLPQSVVYQN EEGRWVTDLA YYTSFNSKQN LNVSLSDEMN EDFRSGSEAF DLIAQDEEEF
NKEHQFIQPS FGYFIRSPEK REPIALIRKS DVSRGNLEKE MAHLNHDLYS GDLNEQSQAQ
LSEGSITLQV EAVESTSQVD ENDVTLTADK GKTEDTFFMS NKPQRYKDKL PDSGDSMLRI
STIASAIAEA SVNTDPSQLA AMIKALSNKT RDKTFQEDEK QKDYSHVRHF LPNDLEKSNG
SNALDMEKYL KKTEVSRYES ALENFSRASM SDTWDLSLPK EQTTQDIHPV DLSATSVSVR
APEENTAAIV YVENGESENQ ESFRTINSSN SVTNRENNSA VVDVKTCSID NKLQDVGNDE
KATSISTPSD SYSSVRNPRI TSLCLLKDCE EIRDNRENQR QNECVSEISN SEKHVTFENH
RIVSPKNSDL KNTSPEHGGR GSEDEQESFR PSTSPLSHSS PSEISGTSSS GCALESFGSA
AQQQQPPCEQ ELSPLVCSPA GVSRLTYVSE PESSYPTTAT DDALEDRKSD ITSELSTTII
QGSPAALEER AMEKLREKVP FQNRGKGTLS SIIQNNSDTR KATETTSLSS KPEYVKPDFR
WSKDPSSKSG NLLETSEVGW TSNPEELDPI RLALLGKSGL SCQVGSATSH PVSCQEPIDE
DQRISPKDKS TAGREFSGQV SHQTTSENQC TPIPSSTVHS SVADMQNMPA AVHALLTQPS
LSAAPFAQRY LGTLPSTGST TLPQCHAGNA TVCGFSGGLP YPAVAGEPVQ NSVAVGICLG
SNIGSGWMGT SSLCNPYSNT LNQNLLSTTK PFPVPSVGTN CGIEPWDSGV TSGLGSVRVP
EELKLPHACC VGIASQTLLS VLNPTDRWLQ VSIGVLSISV NGEKVDLSTY RCLVFKNKAI
IRPHATEEIK VLFIPSSPGV FRCTFSVASW PCSTDAETIV QAEALASTVT LTAIAESPVI
EVETEKKDVL DFGDLTYGGW KALPLKLINR THATVPIRLI INANAVAWRC FTFSKESVRA
PVEVAPCADV VTRLAGPSVV NHMMPASYDG QDPEFLMIWV LFHSPKKQIS SSDILDSAEE
FSAKVDIEVD SPNPTPVLRS VSLRARAGIA RIHAPRDLQT MHFLAKVASS RKQHLPLKNA
GNIEVYLDIK VPEQGSHFSV DPKNLLLKPG EEHEVIVSFT PKDPEACEER ILKIFVQPFG
PQYEVVLKGE VISSGSKPLS PGPCLDIPSI LSNKQFLAWG GVPLGRTQLQ KLALRNNSAS
TTQHLRLLIR GQDQDCFQLQ NTFGSEQRLT SNCEIRIHPK EDIFISVLFA PTRLSCMLAR
LEIKQLGNRS QPGIKFTIPL SGYGGTSNLI LEGVKKLSDS YMVTVNGLVP GKESKIVFSV
RNTGSRAAFV KAVGFKDSQK KVLLDPKVLR IFPDKFVLKE RTQENVTLIY NPSDRGINNK
TATELSTVYL FGGDEISRQQ YRRALLHKPE MIKQILPEHS VLQNINFVEA FQDELLVTEV
YDLPQRPNDV QLFYGSMCKI ILSVIGEFRD CISSREFLQP SSKASLESTS DLGASGKHGG
NVSLDVLPVK GPQGSPLLSR AARPPLDQLA SEEPWTVLPE HLILVAPSPC DMAKTGRFQI
VNNSVRLLRF ELCWPAHCLT VTPQHGCVAP ESKLQILVSP NSSLSTKQSM FPWSGLIYIH
CDDGQKKIVK VQIREDLTQV ELLTRLTSKP FGILSPVSEP SVSHLVKPMT KPPSTKVEIR
NKSITFPTTE PGETSESCLE LENHGTTDVK WHLSSLAPPY VKGVDESGDV FRATYAAFRC
SPISGLLESH GIQKVSITFL PRGRGDYAQF WDVECHPLKE PHMKHTLRFQ LSGQSIEAEN
EPENACLSTD SLIKIDHLVK PRRQAVSEAS ARIPEQLDVT ARGVYAPEDV YRFRPTSVGE
SRTLKVNLRN NSFITHSLKF LSPREPFYVK HSKYSLRAQH YINMPVQFKP KSAGKFEALL
VIQTDEGKSI AIRLIGEALG KN*
mutated AA sequence MDGCLDTETP TVSIQENVDV ASLKPISDSG INFTDAIWSP TCERRTCECH ESIEKNKDKT
DLPQSVVYQN EEGRWVTDLA YYTSFNSKQN LNVSLSDEMN EDFRSGSEAF DLIAQDEEEF
NKEHQFIQPS FGYFIRSPEK REPIALIRKS DVSRGNLEKE MAHLNHDLYS GDLNEQSQAQ
LSEGSITLQV EAVESTSQVD ENDVTLTADK GKTEDTFFMS NKPQRYKDKL PDSGDSMLRI
STIASAIAEA SVNTDPSQLA AMIKALSNKT RDKTFQEDEK QKDYSHVRHF LPNDLEKSNG
SNALDMEKYL KKTEVSRYES ALENFSRASM SDTWDLSLPK EQTTQDIHPV DLSATSVSVR
APEENTAAIV YVENGESENQ ESFRTINSSN SVTNRENNSA VVDVKTCSID NKLQDVGNDE
KATSISTPSD SYSSVRNPRI TSLCLLKDCE EIRDNRENQR QNECVSEISN SEKHVTFENH
RIVSPKNSDL KNTSPEHGGR GSEDEQESFR PSTSPLSHSS PSEISGTSSS GCALESFGSA
AQQQQPPCEQ ELSPLVCSPA GVSRLTYVSE PESSYPTTAT DDALEDRKSD ITSELSTTII
QGSPAALEER AMEKLREKVP FQNRGKGTLS SIIQNNSDTR KATETTSLSS KPEYVKPDFR
WSKDPSSKSG NLLETSEVGW TSNPEELDPI RLALLGKSGL SCQVGSATSH PVSCQEPIDE
DQRISPKDKS TAGREFSGQV SHQTTSENQC TPIPSSTVHS SVADMQNMPA AVHALLTQPS
LSAAPFAQRY LGTLPSTGST TLPQCHAGNA TVCGFSGGLP YPAVAGEPVQ NSVAVGICLG
SNIGSGWMGT SSLCNPYSNT LNQNLLSTTK PFPVPSVGTN CGIEPWDSGV TSGLGSVRVP
EELKLPHACC VGIASQTLLS VLNPTDRWLQ VSIGVLSISV NGEKVDLSTY RCLVFKNKAI
IRPHATEEIK VLFIPSSPGV FRCTFSVASW PCSTDAETIV QAEALASTVT LTAIAESPVI
EVETEKKDVL DFGDLTYGGW KALPLKLINR THATVPIRLI INANAVAWRC FTFSKEPVRA
PVEVAPCADV VTRLAGPSVV NHMMPASYDG QDPEFLMIWV LFHSPKKQIS SSDILDSAEE
FSAKVDIEVD SPNPTPVLRS VSLRARAGIA RIHAPRDLQT MHFLAKVASS RKQHLPLKNA
GNIEVYLDIK VPEQGSHFSV DPKNLLLKPG EEHEVIVSFT PKDPEACEER ILKIFVQPFG
PQYEVVLKGE VISSGSKPLS PGPCLDIPSI LSNKQFLAWG GVPLGRTQLQ KLALRNNSAS
TTQHLRLLIR GQDQDCFQLQ NTFGSEQRLT SNCEIRIHPK EDIFISVLFA PTRLSCMLAR
LEIKQLGNRS QPGIKFTIPL SGYGGTSNLI LEGVKKLSDS YMVTVNGLVP GKESKIVFSV
RNTGSRAAFV KAVGFKDSQK KVLLDPKVLR IFPDKFVLKE RTQENVTLIY NPSDRGINNK
TATELSTVYL FGGDEISRQQ YRRALLHKPE MIKQILPEHS VLQNINFVEA FQDELLVTEV
YDLPQRPNDV QLFYGSMCKI ILSVIGEFRD CISSREFLQP SSKASLESTS DLGASGKHGG
NVSLDVLPVK GPQGSPLLSR AARPPLDQLA SEEPWTVLPE HLILVAPSPC DMAKTGRFQI
VNNSVRLLRF ELCWPAHCLT VTPQHGCVAP ESKLQILVSP NSSLSTKQSM FPWSGLIYIH
CDDGQKKIVK VQIREDLTQV ELLTRLTSKP FGILSPVSEP SVSHLVKPMT KPPSTKVEIR
NKSITFPTTE PGETSESCLE LENHGTTDVK WHLSSLAPPY VKGVDESGDV FRATYAAFRC
SPISGLLESH GIQKVSITFL PRGRGDYAQF WDVECHPLKE PHMKHTLRFQ LSGQSIEAEN
EPENACLSTD SLIKIDHLVK PRRQAVSEAS ARIPEQLDVT ARGVYAPEDV YRFRPTSVGE
SRTLKVNLRN NSFITHSLKF LSPREPFYVK HSKYSLRAQH YINMPVQFKP KSAGKFEALL
VIQTDEGKSI AIRLIGEALG KN*
speed 1.15 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