Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999947034380363 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:43184132A>CN/A show variant in all transcripts   IGV
HGNC symbol CUL9
Ensembl transcript ID ENST00000372647
Genbank transcript ID N/A
UniProt peptide Q8IWT3
alteration type single base exchange
alteration region CDS
DNA changes c.6089A>C
cDNA.6163A>C
g.34220A>C
AA changes H2030P Score: 77 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2030
frameshift no
known variant Reference ID: rs2273709
databasehomozygous (C/C)heterozygousallele carriers
1000G5089841492
ExAC53512091026261
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1860.936
1.0790.865
(flanking)-0.4460.666
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 110
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2030EPLLLAAGLCVHQAQAVPVRPDHC
mutated  not conserved    2030EPLLLAAGLCVPQAQAVPVRPD
Ptroglodytes  not conserved  ENSPTRG00000018191  2058EPLLLAAGLCVPQAQAVPVRPDH
Mmulatta  not conserved  ENSMMUG00000005434  2057EPLLLAAGLCVPQAQAVPARPDH
Fcatus  not conserved  ENSFCAG00000009721  2057EPLLLAAGLCVPQAQEAPARPDH
Mmusculus  not conserved  ENSMUSG00000040327  2062EPLLLAAGLRVPQAQVVPTRPDQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000018504  1678ELLLISSGLQVRDPQHPES
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7470 / 7470
position (AA) of stopcodon in wt / mu AA sequence 2490 / 2490
position of stopcodon in wt / mu cDNA 7544 / 7544
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 75 / 75
chromosome 6
strand 1
last intron/exon boundary 7349
theoretical NMD boundary in CDS 7224
length of CDS 7470
coding sequence (CDS) position 6089
cDNA position
(for ins/del: last normal base / first normal base)		 6163
gDNA position
(for ins/del: last normal base / first normal base)		 34220
chromosomal position
(for ins/del: last normal base / first normal base)		 43184132
original gDNA sequence snippet GGCAGCTGGGCTGTGCGTACACCAGGCTCAGGCTGTACCCG
altered gDNA sequence snippet GGCAGCTGGGCTGTGCGTACCCCAGGCTCAGGCTGTACCCG
original cDNA sequence snippet GGCAGCTGGGCTGTGCGTACACCAGGCTCAGGCTGTACCCG
altered cDNA sequence snippet GGCAGCTGGGCTGTGCGTACCCCAGGCTCAGGCTGTACCCG
wildtype AA sequence MVGERHAGDL MVPLGPRLQA YPEELIRQRP GHDGHPEYLI RWSVLKCGEV GKVGVEEGKA
EHILMWLSAP EVYANCPGLL GERALSKGLQ HEPAGVSGSF PRDPGGLDEV AMGEMEADVQ
ALVRRAARQL AESGTPSLTA AVLHTIHVLS AYASIGPLTG VFRETGALDL LMHMLCNPEP
QIRRSAGKML QALAAHDAGS RAHVLLSLSQ QDGIEQHMDF DSRYTLLELF AETTSSEEHC
MAFEGIHLPQ IPGKLLFSLV KRYLCVTSLL DQLNSSPELG AGDQSSPCAT REKSRGQREL
EFSMAVGNLI SELVRSMGWA RNLSEQGMSP PRPTRSIFQP YISGPSLLLP TIVTTPRRQG
WVFRQRSEFS SRSGYGEYVQ QTLQPGMRVR MLDDYEEISA GDEGEFRQSN NGIPPVQVFW
QSTGRTYWVH WHMLEILGPE EATEDKASAA VEKGAGATVL GTAFPSWDWN PMDGLYPLPY
LQPEPQKNER VGYLTQAEWW ELLFFIKKLD LCEQQPIFQN LWKNLDETLG EKALGEISVS
VEMAESLLQV LSSRFEGSTL NDLLNSQIYT KYGLLSNEPS SSSTSRNHSC TPDPEEESKS
EASFSEEETE SLKAKAEAPK TEAEPTKTRT ETPMAQSDSQ LFNQLLVTEG MTLPTEMKEA
ASEMARALRG PGPRSSLDQH VAAVVATVQI SSLDTNLQLS GLSALSQAVE EVTERDHPLV
RPDRSLREKL VKMLVELLTN QVGEKMVVVQ ALRLLYLLMT KHEWRPLFAR EGGIYAVLVC
MQEYKTSVLV QQAGLAALKM LAVASSSEIP TFVTGRDSIH SLFDAQMTRE IFASIDSATR
PGSESLLLTV PAAVILMLNT EGCSSAARNG LLLLNLLLCN HHTLGDQIIT QELRDTLFRH
SGIAPRTEPM PTTRTILMML LNRYSEPPGS PERAALETPI IQGQDGSPEL LIRSLVGGPS
AELLLDLERV LCREGSPGGA VRPLLKRLQQ ETQPFLLLLR TLDAPGPNKT LLLSVLRVIT
RLLDFPEAMV LPWHEVLEPC LNCLSGPSSD SEIVQELTCF LHRLASMHKD YAVVLCCLGA
KEILSKVLDK HSAQLLLGCE LRDLVTECEK YAQLYSNLTS SILAGCIQMV LGQIEDHRRT
HQPINIPFFD VFLRHLCQGS SVEVKEDKCW EKVEVSSNPH RASKLTDHNP KTYWESNGST
GSHYITLHMH RGVLVRQLTL LVASEDSSYM PARVVVFGGD STSCIGTELN TVNVMPSASR
VILLENLNRF WPIIQIRIKR CQQGGIDTRV RGVEVLGPKP TFWPLFREQL CRRTCLFYTI
RAQAWSRDIA EDHRRLLQLC PRLNRVLRHE QNFADRFLPD DEAAQALGKT CWEALVSPLV
QNITSPDAEG VSALGWLLDQ YLEQRETSRN PLSRAASFAS RVRRLCHLLV HVEPPPGPSP
EPSTRPFSKN SKGRDRSPAP SPVLPSSSLR NITQCWLSVV QEQVSRFLAA AWRAPDFVPR
YCKLYEHLQR AGSELFGPRA AFMLALRSGF SGALLQQSFL TAAHMSEQFA RYIDQQIQGG
LIGGAPGVEM LGQLQRHLEP IMVLSGLELA TTFEHFYQHY MADRLLSFGS SWLEGAVLEQ
IGLCFPNRLP QLMLQSLSTS EELQRQFHLF QLQRLDKLFL EQEDEEEKRL EEEEEEEEEE
EAEKELFIED PSPAISILVL SPRCWPVSPL CYLYHPRKCL PTEFCDALDR FSSFYSQSQN
HPVLDMGPHR RLQWTWLGRA ELQFGKQILH VSTVQMWLLL KFNQTEEVSV ETLLKDSDLS
PELLLQALVP LTSGNGPLTL HEGQDFPHGE KDEGRTLEQK RNLLSCLLVR ILKAHGEKGL
HIDQLVCLVL EAWQKGPNPP GTLGHTVAGG VACTSTDVLS CILHLLGQGY VKRRDDRPQI
LMYAAPEPMG PCRGQADVPF CGSQSETSKP SPEAVATLAS LQLPAGRTMS PQEVEGLMKQ
TVRQVQETLN LEPDVAQHLL AHSHWGAEQL LQSYSEDPEP LLLAAGLCVH QAQAVPVRPD
HCPVCVSPLG CDDDLPSLCC MHYCCKSCWN EYLTTRIEQN LVLNCTCPIA DCPAQPTGAF
IRAIVSSPEV ISKYEKALLR GYVESCSNLT WCTNPQGCDR ILCRQGLGCG TTCSKCGWAS
CFNCSFPEAH YPASCGHMSQ WVDDGGYYDG MSVEAQSKHL AKLISKRCPS CQAPIEKNEG
CLHMTCAKCN HGFCWRCLKS WKPNHKDYYN CSAMVSKAAR QEKRFQDYNE RCTFHHQARE
FAVNLRNRVS AIHEVPPPRS FTFLNDACQG LEQARKVLAY ACVYSFYSQD AEYMDVVEQQ
TENLELHTNA LQILLEETLL RCRDLASSLR LLRADCLSTG MELLRRIQER LLAILQHSAQ
DFRVGLQSPS VEAWEAKGPN MPGSQPQASS GPEAEEEEED DEDDVPEWQQ DEFDEELDND
SFSYDESENL DQETFFFGDE EEDEDEAYD*
mutated AA sequence MVGERHAGDL MVPLGPRLQA YPEELIRQRP GHDGHPEYLI RWSVLKCGEV GKVGVEEGKA
EHILMWLSAP EVYANCPGLL GERALSKGLQ HEPAGVSGSF PRDPGGLDEV AMGEMEADVQ
ALVRRAARQL AESGTPSLTA AVLHTIHVLS AYASIGPLTG VFRETGALDL LMHMLCNPEP
QIRRSAGKML QALAAHDAGS RAHVLLSLSQ QDGIEQHMDF DSRYTLLELF AETTSSEEHC
MAFEGIHLPQ IPGKLLFSLV KRYLCVTSLL DQLNSSPELG AGDQSSPCAT REKSRGQREL
EFSMAVGNLI SELVRSMGWA RNLSEQGMSP PRPTRSIFQP YISGPSLLLP TIVTTPRRQG
WVFRQRSEFS SRSGYGEYVQ QTLQPGMRVR MLDDYEEISA GDEGEFRQSN NGIPPVQVFW
QSTGRTYWVH WHMLEILGPE EATEDKASAA VEKGAGATVL GTAFPSWDWN PMDGLYPLPY
LQPEPQKNER VGYLTQAEWW ELLFFIKKLD LCEQQPIFQN LWKNLDETLG EKALGEISVS
VEMAESLLQV LSSRFEGSTL NDLLNSQIYT KYGLLSNEPS SSSTSRNHSC TPDPEEESKS
EASFSEEETE SLKAKAEAPK TEAEPTKTRT ETPMAQSDSQ LFNQLLVTEG MTLPTEMKEA
ASEMARALRG PGPRSSLDQH VAAVVATVQI SSLDTNLQLS GLSALSQAVE EVTERDHPLV
RPDRSLREKL VKMLVELLTN QVGEKMVVVQ ALRLLYLLMT KHEWRPLFAR EGGIYAVLVC
MQEYKTSVLV QQAGLAALKM LAVASSSEIP TFVTGRDSIH SLFDAQMTRE IFASIDSATR
PGSESLLLTV PAAVILMLNT EGCSSAARNG LLLLNLLLCN HHTLGDQIIT QELRDTLFRH
SGIAPRTEPM PTTRTILMML LNRYSEPPGS PERAALETPI IQGQDGSPEL LIRSLVGGPS
AELLLDLERV LCREGSPGGA VRPLLKRLQQ ETQPFLLLLR TLDAPGPNKT LLLSVLRVIT
RLLDFPEAMV LPWHEVLEPC LNCLSGPSSD SEIVQELTCF LHRLASMHKD YAVVLCCLGA
KEILSKVLDK HSAQLLLGCE LRDLVTECEK YAQLYSNLTS SILAGCIQMV LGQIEDHRRT
HQPINIPFFD VFLRHLCQGS SVEVKEDKCW EKVEVSSNPH RASKLTDHNP KTYWESNGST
GSHYITLHMH RGVLVRQLTL LVASEDSSYM PARVVVFGGD STSCIGTELN TVNVMPSASR
VILLENLNRF WPIIQIRIKR CQQGGIDTRV RGVEVLGPKP TFWPLFREQL CRRTCLFYTI
RAQAWSRDIA EDHRRLLQLC PRLNRVLRHE QNFADRFLPD DEAAQALGKT CWEALVSPLV
QNITSPDAEG VSALGWLLDQ YLEQRETSRN PLSRAASFAS RVRRLCHLLV HVEPPPGPSP
EPSTRPFSKN SKGRDRSPAP SPVLPSSSLR NITQCWLSVV QEQVSRFLAA AWRAPDFVPR
YCKLYEHLQR AGSELFGPRA AFMLALRSGF SGALLQQSFL TAAHMSEQFA RYIDQQIQGG
LIGGAPGVEM LGQLQRHLEP IMVLSGLELA TTFEHFYQHY MADRLLSFGS SWLEGAVLEQ
IGLCFPNRLP QLMLQSLSTS EELQRQFHLF QLQRLDKLFL EQEDEEEKRL EEEEEEEEEE
EAEKELFIED PSPAISILVL SPRCWPVSPL CYLYHPRKCL PTEFCDALDR FSSFYSQSQN
HPVLDMGPHR RLQWTWLGRA ELQFGKQILH VSTVQMWLLL KFNQTEEVSV ETLLKDSDLS
PELLLQALVP LTSGNGPLTL HEGQDFPHGE KDEGRTLEQK RNLLSCLLVR ILKAHGEKGL
HIDQLVCLVL EAWQKGPNPP GTLGHTVAGG VACTSTDVLS CILHLLGQGY VKRRDDRPQI
LMYAAPEPMG PCRGQADVPF CGSQSETSKP SPEAVATLAS LQLPAGRTMS PQEVEGLMKQ
TVRQVQETLN LEPDVAQHLL AHSHWGAEQL LQSYSEDPEP LLLAAGLCVP QAQAVPVRPD
HCPVCVSPLG CDDDLPSLCC MHYCCKSCWN EYLTTRIEQN LVLNCTCPIA DCPAQPTGAF
IRAIVSSPEV ISKYEKALLR GYVESCSNLT WCTNPQGCDR ILCRQGLGCG TTCSKCGWAS
CFNCSFPEAH YPASCGHMSQ WVDDGGYYDG MSVEAQSKHL AKLISKRCPS CQAPIEKNEG
CLHMTCAKCN HGFCWRCLKS WKPNHKDYYN CSAMVSKAAR QEKRFQDYNE RCTFHHQARE
FAVNLRNRVS AIHEVPPPRS FTFLNDACQG LEQARKVLAY ACVYSFYSQD AEYMDVVEQQ
TENLELHTNA LQILLEETLL RCRDLASSLR LLRADCLSTG MELLRRIQER LLAILQHSAQ
DFRVGLQSPS VEAWEAKGPN MPGSQPQASS GPEAEEEEED DEDDVPEWQQ DEFDEELDND
SFSYDESENL DQETFFFGDE EEDEDEAYD*
speed 1.28 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