mutation t@sting

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
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

ENST00000506447

Genbank transcript ID

NM_032142

UniProt peptide

Q8TEP8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4654T>C
cDNA.4734T>C
g.76772T>C

AA changes

S1552P Score: 74 explain score(s)

position(s) of altered AA
if AA alteration in CDS

1552

frameshift

known variant

Reference ID: rs578208

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1440	862	2302
ExAC	26966	-21165	5801

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

	PhyloP	PhastCons
(flanking)	-0.246	0.959
	3.989	1
(flanking)	5.569	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	76769	wt: 0.34 / mu: 0.48	wt: GCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTG mu: GCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTG	aagg\|AATC
Acc marginally increased	76767	wt: 0.7541 / mu: 0.8265 (marginal change - not scored)	wt: GCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTG mu: GCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTG	ccaa\|GGAA
Acc marginally increased	76766	wt: 0.7787 / mu: 0.8373 (marginal change - not scored)	wt: GGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCT mu: GGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCT	tcca\|AGGA
Acc marginally increased	76765	wt: 0.8634 / mu: 0.8742 (marginal change - not scored)	wt: TGGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCC mu: TGGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCC	ttcc\|AAGG
Donor increased	76767	wt: 0.66 / mu: 0.90	wt: TTCCAAGGAATCCGT mu: TTCCAAGGAACCCGT	CCAA\|ggaa
Donor marginally increased	76775	wt: 0.8489 / mu: 0.8835 (marginal change - not scored)	wt: AATCCGTCCGAGCTC mu: AACCCGTCCGAGCTC	TCCG\|tccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1552

mutated

not conserved

1552

Ptroglodytes

not conserved

ENSPTRG00000009886

956

Mmulatta

not conserved

ENSMMUG00000002512

950

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000024542

1527

Ggallus

not conserved

ENSGALG00000013880

604

Trubripes

not conserved

ENSTRUG00000012415

131

Drerio

not conserved

ENSDARG00000074974

929

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000019662

154

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7614 / 7614

position (AA) of stopcodon in wt / mu AA sequence

2538 / 2538

position of stopcodon in wt / mu cDNA

7694 / 7694

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

81 / 81

chromosome

strand

last intron/exon boundary

7556

theoretical NMD boundary in CDS

7425

length of CDS

7614

coding sequence (CDS) position

4654

cDNA position
(for ins/del: last normal base / first normal base)

4734

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

MEDFRGIAEE SFPSFLTNSL FGNSGILENV TLSSNLGLPV AVSTLARDRS STDNRYPDIQ
ASYLVEGRFS VPSGSSPGSQ SDAEPRERLQ LSFQDDDSIS RKKSYVESQR LSNALSKQSA
LQMETAGPEE EPAGATESLQ GQDLFNRASP LEQAQDSPID FHLQSWMNNK EPKIVVLDAG
KHFEDKTLKS DLSHTSLLEN EKLILPTSLE DSSDDDIDDE MFYDDHLEAY FEQLAIPGMI
YEDLEGPEPP EKGFKLPTNG LRQANENGSL NCKFQSENNS SLISLDSHSS ETTHKESEES
QVICLPGTSN SIGTGDSRRY TDGMLPFSSG TWGTEKEIEN LKGIVPDLNS ECASKDVLVK
TLRAIDVKLN SDNFHDANAN RGGFDLTDPV KQGAECPHQN KTVLHMDGCL DTETPTVSIQ
ENVDVASLKP ISDSGINFTD AIWSPTCERR TCECHESIEK NKDKTDLPQS VVYQNEEGRW
VTDLAYYTSF NSKQNLNVSL SDEMNEDFRS GSEAFDLIAQ DEEEFNKEHQ FIQEENIDAH
NTSVALGDTS WGATINYSLL RKSRSTSDLD KDDASYLRLS LGEFFAQRSE ALGCLGGGNN
VKRPSFGYFI RSPEKREPIA LIRKSDVSRG NLEKEMAHLN HDLYSGDLNE QSQAQLSEGS
ITLQVEAVES TSQVDENDVT LTADKGKTED TFFMSNKPQR YKDKLPDSGD SMLRISTIAS
AIAEASVNTD PSQLAAMIKA LSNKTRDKTF QEDEKQKDYS HVRHFLPNDL EKSNGSNALD
MEKYLKKTEV SRYESALENF SRASMSDTWD LSLPKEQTTQ DIHPVDLSAT SVSVRAPEEN
TAAIVYVENG ESENQESFRT INSSNSVTNR ENNSAVVDVK TCSIDNKLQD VGNDEKATSI
STPSDSYSSV RNPRITSLCL LKDCEEIRDN RENQRQNECV SEISNSEKHV TFENHRIVSP
KNSDLKNTSP EHGGRGSEDE QESFRPSTSP LSHSSPSEIS GTSSSGCALE SFGSAAQQQQ
PPCEQELSPL VCSPAGVSRL TYVSEPESSY PTTATDDALE DRKSDITSEL STTIIQGSPA
ALEERAMEKL REKVPFQNRG KGTLSSIIQN NSDTRKATET TSLSSKPEYV KPDFRWSKDP
SSKSGNLLET SEVGWTSNPE ELDPIRLALL GKSGLSCQVG SATSHPVSCQ EPIDEDQRIS
PKDKSTAGRE FSGQVSHQTT SENQCTPIPS STVHSSVADM QNMPAAVHAL LTQPSLSAAP
FAQRYLGTLP STGSTTLPQC HAGNATVCGF SGGLPYPAVA GEPVQNSVAV GICLGSNIGS
GWMGTSSLCN PYSNTLNQNL LSTTKPFPVP SVGTNCGIEP WDSGVTSGLG SVRVPEELKL
PHACCVGIAS QTLLSVLNPT DRWLQVSIGV LSISVNGEKV DLSTYRCLVF KNKAIIRPHA
TEEIKVLFIP SSPGVFRCTF SVASWPCSTD AETIVQAEAL ASTVTLTAIA ESPVIEVETE
KKDVLDFGDL TYGGWKALPL KLINRTHATV PIRLIINANA VAWRCFTFSK ESVRAPVEVA
PCADVVTRLA GPSVVNHMMP ASYDGQDPEF LMIWVLFHSP KKQISSSDIL DSAEEFSAKV
DIEVDSPNPT PVLRSVSLRA RAGIARIHAP RDLQTMHFLA KVASSRKQHL PLKNAGNIEV
YLDIKVPEQG SHFSVDPKNL LLKPGEEHEV IVSFTPKDPE ACEERILKIF VQPFGPQYEV
VLKGEVISSG SKPLSPGPCL DIPSILSNKQ FLAWGGVPLG RTQLQKLALR NNSASTTQHL
RLLIRGQDQD CFQLQNTFGS EQRLTSNCEI RIHPKEDIFI SVLFAPTRLS CMLARLEIKQ
LGNRSQPGIK FTIPLSGYGG TSNLILEGVK KLSDSYMVTV NGLVPGKESK IVFSVRNTGS
RAAFVKAVGF KDSQKKVLLD PKVLRIFPDK FVLKERTQEN VTLIYNPSDR GINNKTATEL
STVYLFGGDE ISRQQYRRAL LHKPEMIKQI LPEHSVLQNI NFVEAFQDEL LVTEVYDLPQ
RPNDVQLFYG SMCKIILSVI GEFRDCISSR EFLQPSSKAS LESTSDLGAS GKHGGNVSLD
VLPVKGPQGS PLLSRAARPP LDQLASEEPW TVLPEHLILV APSPCDMAKT GRFQIVNNSV
RLLRFELCWP AHCLTVTPQH GCVAPESKLQ ILVSPNSSLS TKQSMFPWSG LIYIHCDDGQ
KKIVKVQIRE DLTQVELLTR LTSKPFGILS PVSEPSVSHL VKPMTKPPST KVEIRNKSIT
FPTTEPGETS ESCLELENHG TTDVKWHLSS LAPPYVKGVD ESGDVFRATY AAFRCSPISG
LLESHGIQKV SITFLPRGRG DYAQFWDVEC HPLKEPHMKH TLRFQLSGQS IEAENEPENA
CLSTDSLIKI DHLVKPRRQA VSEASARIPE QLDVTARGVY APEDVYRFRP TSVGESRTLK
VNLRNNSFIT HSLKFLSPRE PFYVKHSKYS LRAQHYINMP VQFKPKSAGK FEALLVIQTD
EGKSIAIRLI GEALGKN*

mutated AA sequence

MEDFRGIAEE SFPSFLTNSL FGNSGILENV TLSSNLGLPV AVSTLARDRS STDNRYPDIQ
ASYLVEGRFS VPSGSSPGSQ SDAEPRERLQ LSFQDDDSIS RKKSYVESQR LSNALSKQSA
LQMETAGPEE EPAGATESLQ GQDLFNRASP LEQAQDSPID FHLQSWMNNK EPKIVVLDAG
KHFEDKTLKS DLSHTSLLEN EKLILPTSLE DSSDDDIDDE MFYDDHLEAY FEQLAIPGMI
YEDLEGPEPP EKGFKLPTNG LRQANENGSL NCKFQSENNS SLISLDSHSS ETTHKESEES
QVICLPGTSN SIGTGDSRRY TDGMLPFSSG TWGTEKEIEN LKGIVPDLNS ECASKDVLVK
TLRAIDVKLN SDNFHDANAN RGGFDLTDPV KQGAECPHQN KTVLHMDGCL DTETPTVSIQ
ENVDVASLKP ISDSGINFTD AIWSPTCERR TCECHESIEK NKDKTDLPQS VVYQNEEGRW
VTDLAYYTSF NSKQNLNVSL SDEMNEDFRS GSEAFDLIAQ DEEEFNKEHQ FIQEENIDAH
NTSVALGDTS WGATINYSLL RKSRSTSDLD KDDASYLRLS LGEFFAQRSE ALGCLGGGNN
VKRPSFGYFI RSPEKREPIA LIRKSDVSRG NLEKEMAHLN HDLYSGDLNE QSQAQLSEGS
ITLQVEAVES TSQVDENDVT LTADKGKTED TFFMSNKPQR YKDKLPDSGD SMLRISTIAS
AIAEASVNTD PSQLAAMIKA LSNKTRDKTF QEDEKQKDYS HVRHFLPNDL EKSNGSNALD
MEKYLKKTEV SRYESALENF SRASMSDTWD LSLPKEQTTQ DIHPVDLSAT SVSVRAPEEN
TAAIVYVENG ESENQESFRT INSSNSVTNR ENNSAVVDVK TCSIDNKLQD VGNDEKATSI
STPSDSYSSV RNPRITSLCL LKDCEEIRDN RENQRQNECV SEISNSEKHV TFENHRIVSP
KNSDLKNTSP EHGGRGSEDE QESFRPSTSP LSHSSPSEIS GTSSSGCALE SFGSAAQQQQ
PPCEQELSPL VCSPAGVSRL TYVSEPESSY PTTATDDALE DRKSDITSEL STTIIQGSPA
ALEERAMEKL REKVPFQNRG KGTLSSIIQN NSDTRKATET TSLSSKPEYV KPDFRWSKDP
SSKSGNLLET SEVGWTSNPE ELDPIRLALL GKSGLSCQVG SATSHPVSCQ EPIDEDQRIS
PKDKSTAGRE FSGQVSHQTT SENQCTPIPS STVHSSVADM QNMPAAVHAL LTQPSLSAAP
FAQRYLGTLP STGSTTLPQC HAGNATVCGF SGGLPYPAVA GEPVQNSVAV GICLGSNIGS
GWMGTSSLCN PYSNTLNQNL LSTTKPFPVP SVGTNCGIEP WDSGVTSGLG SVRVPEELKL
PHACCVGIAS QTLLSVLNPT DRWLQVSIGV LSISVNGEKV DLSTYRCLVF KNKAIIRPHA
TEEIKVLFIP SSPGVFRCTF SVASWPCSTD AETIVQAEAL ASTVTLTAIA ESPVIEVETE
KKDVLDFGDL TYGGWKALPL KLINRTHATV PIRLIINANA VAWRCFTFSK EPVRAPVEVA
PCADVVTRLA GPSVVNHMMP ASYDGQDPEF LMIWVLFHSP KKQISSSDIL DSAEEFSAKV
DIEVDSPNPT PVLRSVSLRA RAGIARIHAP RDLQTMHFLA KVASSRKQHL PLKNAGNIEV
YLDIKVPEQG SHFSVDPKNL LLKPGEEHEV IVSFTPKDPE ACEERILKIF VQPFGPQYEV
VLKGEVISSG SKPLSPGPCL DIPSILSNKQ FLAWGGVPLG RTQLQKLALR NNSASTTQHL
RLLIRGQDQD CFQLQNTFGS EQRLTSNCEI RIHPKEDIFI SVLFAPTRLS CMLARLEIKQ
LGNRSQPGIK FTIPLSGYGG TSNLILEGVK KLSDSYMVTV NGLVPGKESK IVFSVRNTGS
RAAFVKAVGF KDSQKKVLLD PKVLRIFPDK FVLKERTQEN VTLIYNPSDR GINNKTATEL
STVYLFGGDE ISRQQYRRAL LHKPEMIKQI LPEHSVLQNI NFVEAFQDEL LVTEVYDLPQ
RPNDVQLFYG SMCKIILSVI GEFRDCISSR EFLQPSSKAS LESTSDLGAS GKHGGNVSLD
VLPVKGPQGS PLLSRAARPP LDQLASEEPW TVLPEHLILV APSPCDMAKT GRFQIVNNSV
RLLRFELCWP AHCLTVTPQH GCVAPESKLQ ILVSPNSSLS TKQSMFPWSG LIYIHCDDGQ
KKIVKVQIRE DLTQVELLTR LTSKPFGILS PVSEPSVSHL VKPMTKPPST KVEIRNKSIT
FPTTEPGETS ESCLELENHG TTDVKWHLSS LAPPYVKGVD ESGDVFRATY AAFRCSPISG
LLESHGIQKV SITFLPRGRG DYAQFWDVEC HPLKEPHMKH TLRFQLSGQS IEAENEPENA
CLSTDSLIKI DHLVKPRRQA VSEASARIPE QLDVTARGVY APEDVYRFRP TSVGESRTLK
VNLRNNSFIT HSLKFLSPRE PFYVKHSKYS LRAQHYINMP VQFKPKSAGK FEALLVIQTD
EGKSIAIRLI GEALGKN*

speed

0.87 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