Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999995427 (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) chr19:38379446C>TN/A show variant in all transcripts   IGV
HGNC symbol WDR87
Ensembl transcript ID ENST00000447313
Genbank transcript ID N/A
UniProt peptide Q6ZQQ6
alteration type single base exchange
alteration region CDS
DNA changes c.4865G>A
cDNA.5026G>A
g.17872G>A
AA changes R1622Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1622
frameshift no
known variant Reference ID: rs6508750
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC319253148506
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2560
-0.2190
(flanking)0.0090.004
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased17876wt: 0.9124 / mu: 0.9484 (marginal change - not scored)wt: CGAGCTGAAAAAAAA
mu: CAAGCTGAAAAAAAA		 AGCT|gaaa
Donor increased17873wt: 0.77 / mu: 0.96wt: GCCCGAGCTGAAAAA
mu: GCCCAAGCTGAAAAA		 CCGA|gctg
Donor increased17868wt: 0.75 / mu: 0.99wt: AACGAGCCCGAGCTG
mu: AACGAGCCCAAGCTG		 CGAG|cccg
Donor gained178740.43mu: CCCAAGCTGAAAAAA CAAG|ctga
distance from splice site 1471
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1622HKWARIHRKRARAEKKRAQEERKL
mutated  all conserved    1622AQAEKKRAQEERK
Ptroglodytes  all identical  ENSPTRG00000029026  1622ARAEKKRAQEERK
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000074224  1668QKQARADWRQARGERRRAREKKL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
14192347COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8739 / 8739
position (AA) of stopcodon in wt / mu AA sequence 2913 / 2913
position of stopcodon in wt / mu cDNA 8900 / 8900
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 162 / 162
chromosome 19
strand -1
last intron/exon boundary 3556
theoretical NMD boundary in CDS 3344
length of CDS 8739
coding sequence (CDS) position 4865
cDNA position
(for ins/del: last normal base / first normal base)		 5026
gDNA position
(for ins/del: last normal base / first normal base)		 17872
chromosomal position
(for ins/del: last normal base / first normal base)		 38379446
original gDNA sequence snippet AATACACAGGAAACGAGCCCGAGCTGAAAAAAAACGAGCCC
altered gDNA sequence snippet AATACACAGGAAACGAGCCCAAGCTGAAAAAAAACGAGCCC
original cDNA sequence snippet AATACACAGGAAACGAGCCCGAGCTGAAAAAAAACGAGCCC
altered cDNA sequence snippet AATACACAGGAAACGAGCCCAAGCTGAAAAAAAACGAGCCC
wildtype AA sequence MSSPRLIPLW KDLKLLLNDT INKSKQPSED PKNCLIVLSD RSQVLFKESR YPQNMPCVCY
YFSDAHFFAS LSWVTSNTKE IQAVAWMKSK TEDMVEKRTF SMTERLPPIQ SMVHAGSFHI
LVVYCGDLIL RLFGDHFRAF KPLGKVPCRF NISCLCYDPE MKMLLSGILG AVVTWVIELG
GTGLQIAHMV SMPGDELVQD IVLNGPSGSL LALCETVVRV LMHQGKGQLG EVKRFTSTSS
GSSITCCFTC FDQGFLYAGN QAGEIQVWSL QQGHPLHSFQ AHQSGVICIR SRPEAHTLLT
AGSDSLIKEW NLTSGSLLRR LELGEELYRL QFIDSITFFC QTAHSFSLHR LPCFYSLFNV
CGSAPQQLRR VCCGNNWFRI LCTTEDGLLR FVSPVTGDLL VITWPFSILD QAVDWAYDPG
KEELFVATGS SEVLVFDTTR CPCPAKYLLG TSPNSQDFVQ CLAYGHFNLG RGLEGLIFSG
HQSGVIRVLS QHSCARLEKF MHFGAVLALS TLSGGIFGGQ GNSLLCSYGM DDYVHLSEAV
LDGVKVQLRP LASILSSCHL THLILLPKSV GAITETNCLR LWKFHDFLSS GSQNGLKFIE
TLPLHLCAIT SFDVCLSLSL FVTGSADGSV RIWDFHGRLI GILDSSLHFG PVCFANDRGD
LLVTFNQSLY LVSCLKLLPP ALLTRLSFMS ISDEVLEVPK PFIPSFFFSF ETMFVPKYIY
PGQAQQKLVG LEKLVNNRAI AFDHSVPHVI EEDEEGSPVL LRSSMHYSLQ DMEDWMQVSK
RYQCHYVLPP QLQLTSWDGL NPYQILRYYF GHGREWLFAP DCYIPNSVIR ARLWPEGTPI
YLQCNLHAPQ RELEWDRSQE FFFWHSRVRA ISNTEYPKNK EEDEHFLEMR LSKDVTYSVL
TDGANRSWLG RKMSEITINS MIETMLNIMV HASLLKYQCC VGALGQIFAS YQVSPALRSE
TARRLLNDTT NSNPLIRELA WEGLKRLGMI THLFAMPLAQ GLMDKDERVR IKTLSLMAEI
GIHSRTSLLQ LTQKQETFRE MQQQMIGEEP LDHLLGMRAT DLQILSTQVE QRLNENLTLS
HRDEKPAFSL DVSMPSELKS SLKPPTVSEE SEVAIKPSKG QRRGQAGVKK HSQKWLRGLK
KTKERDSKQM STEPGLLEDE SGTEAAPIEM EEASVYSQWS SSTSVIKLSK DVDSQEKDIS
KDHIALTLKR LQKIRDKRDK KATAQKLKKK HKKKGKEAKV INEETTPPVM EQPVTKKVKI
QGRGASGISG RRSTAGDGSS WRDDLCRLMA LRISGSQTKM SENLNAELVT FAQEMLVDRH
PSWELFQEIC PLLKKESKVL LEDLDWDVVP PEKKPIFIQE GAIREDMIQG VTQEVIRHKE
VMPREEEQAQ KKARDMLGLE ETQVILKKGK KVIFLEPGNV TMGKEISKKE EKKTFQKSPK
QGRKAVQKER KVGKIKREMT KEERDMSEEV EEMATLEEKV VKQEGKLVMI ERTPSWQDWK
KAWDEWKQVH GETRKSWKAW KEEWEKRLLQ EEEKLHQAGE KLSPEEEMLQ EDKKLKWEEW
KQVWENMLSS KSKEQQYKDE EEVTLEEEVS REGEEKEQQV TEEQRHIQEE HKWARIHRKR
ARAEKKRAQE ERKLAQEEEK LAQEERQLAQ EERKLAQAYV KITQDDREMA QAEGKFAQKE
ETLAQRGEKL SQEAEKLAQK RKKLAKKWEK VAREEEKLAK KGGKLAEVKN ILAQKVEELP
QREQNLDWQE KELAQELEEL EWDMEELSWK EEELNQEEGK LVEEKKKLAE EEEALAWQRE
KLSEEETKLA QEEELLIQEK EKLAQHKEKM PEEEERLGRK REQLIEKKMK LAQKRERWIN
SMEELTKNKM ILYQKKNLAQ EKKNLAQEKE KLAQRKENLL YNKERLTHSK KQLVQVKNKL
GMFNKILAQV EEKLTQEKET VIKKKEKLAE TEKKLVQVED SLAKKQEKLA QEKMKLALEK
AMVQGKKRLR GELDIAKEEK ALNLEMKRLA EEKMRLVEGK ETLSKGETPE TSRQRKMTQV
EQELFERKLS LEEKILLHED RILAMEESEI AKGKLEFTRG QRIFVQGQRK LAKASRKLIK
KRESLSKEPA KLNKILKALQ KLTRDERKLT QEEIKMTKMK RALFVKERRL SIEQSKLDIK
EWDFSEKRSE LTKDEKKLAR KQRKLANKMR RMINKEEKMT EEESKLARKH SEVILDDEEE
GGIEEEEVIP FLKRRWRKRK EAKRGDKPKE KFSSQVDEVE SEEHFSEEME SLLDELEKQE
SLSSEEEEER EEEEEREEEE VREEEEERKE EEEGEEKQVE KEEEEKKKKK KEKKKEEVQE
KEEVFEEKEE IMSEEETESL SDEEEEEESC SLEEEVDREK EILKKEKQFK LQEQRRKSLR
GRERVLSILR GVPHGKGRAI RLGVLKSPLK KLMSTALEMK EKTPVPVPEK QISWEDKKAT
VVEIPRKFLG TMDKEREVMG KYEPIPPHVL GTVLESQAQD LKTPFMSHIL RRTVEAEELQ
HKPLGAWWKW FLQHPPLMGQ TEVQLPLSQI PAKEQHADVS LSDVEWIRHV LERMEAGEQL
SRDGFHRLCQ LLKDLASKGN LEWLHLAKHE AIVYRHRQAL ESQDTRISSR QSMSPKYLKV
IPPIKAKEKE SWPKPLAVPT QKSPLATKRI PDPRAKNWHL LGEPYRSERA QQISIAHKEM
EMQYFYPATR DIFPSAHASV EKQTLALMFQ KDFWDFKDKR RFPKLPKLEK KTQPISKKKE
ELPLWETFVA LYHVLRMLQQ RYPKDSTAWM EQFYQLMDLY QLKSPRIQKL LQELLMREEP
QPQEIIYEEA LKATELVPGE RLFCCLFCGS SHTPRSPQEF QGAVPLPWQN CVRTILPVGI
ARYGILELAW KSLPEADLHL TKALTHTVAP TL*
mutated AA sequence MSSPRLIPLW KDLKLLLNDT INKSKQPSED PKNCLIVLSD RSQVLFKESR YPQNMPCVCY
YFSDAHFFAS LSWVTSNTKE IQAVAWMKSK TEDMVEKRTF SMTERLPPIQ SMVHAGSFHI
LVVYCGDLIL RLFGDHFRAF KPLGKVPCRF NISCLCYDPE MKMLLSGILG AVVTWVIELG
GTGLQIAHMV SMPGDELVQD IVLNGPSGSL LALCETVVRV LMHQGKGQLG EVKRFTSTSS
GSSITCCFTC FDQGFLYAGN QAGEIQVWSL QQGHPLHSFQ AHQSGVICIR SRPEAHTLLT
AGSDSLIKEW NLTSGSLLRR LELGEELYRL QFIDSITFFC QTAHSFSLHR LPCFYSLFNV
CGSAPQQLRR VCCGNNWFRI LCTTEDGLLR FVSPVTGDLL VITWPFSILD QAVDWAYDPG
KEELFVATGS SEVLVFDTTR CPCPAKYLLG TSPNSQDFVQ CLAYGHFNLG RGLEGLIFSG
HQSGVIRVLS QHSCARLEKF MHFGAVLALS TLSGGIFGGQ GNSLLCSYGM DDYVHLSEAV
LDGVKVQLRP LASILSSCHL THLILLPKSV GAITETNCLR LWKFHDFLSS GSQNGLKFIE
TLPLHLCAIT SFDVCLSLSL FVTGSADGSV RIWDFHGRLI GILDSSLHFG PVCFANDRGD
LLVTFNQSLY LVSCLKLLPP ALLTRLSFMS ISDEVLEVPK PFIPSFFFSF ETMFVPKYIY
PGQAQQKLVG LEKLVNNRAI AFDHSVPHVI EEDEEGSPVL LRSSMHYSLQ DMEDWMQVSK
RYQCHYVLPP QLQLTSWDGL NPYQILRYYF GHGREWLFAP DCYIPNSVIR ARLWPEGTPI
YLQCNLHAPQ RELEWDRSQE FFFWHSRVRA ISNTEYPKNK EEDEHFLEMR LSKDVTYSVL
TDGANRSWLG RKMSEITINS MIETMLNIMV HASLLKYQCC VGALGQIFAS YQVSPALRSE
TARRLLNDTT NSNPLIRELA WEGLKRLGMI THLFAMPLAQ GLMDKDERVR IKTLSLMAEI
GIHSRTSLLQ LTQKQETFRE MQQQMIGEEP LDHLLGMRAT DLQILSTQVE QRLNENLTLS
HRDEKPAFSL DVSMPSELKS SLKPPTVSEE SEVAIKPSKG QRRGQAGVKK HSQKWLRGLK
KTKERDSKQM STEPGLLEDE SGTEAAPIEM EEASVYSQWS SSTSVIKLSK DVDSQEKDIS
KDHIALTLKR LQKIRDKRDK KATAQKLKKK HKKKGKEAKV INEETTPPVM EQPVTKKVKI
QGRGASGISG RRSTAGDGSS WRDDLCRLMA LRISGSQTKM SENLNAELVT FAQEMLVDRH
PSWELFQEIC PLLKKESKVL LEDLDWDVVP PEKKPIFIQE GAIREDMIQG VTQEVIRHKE
VMPREEEQAQ KKARDMLGLE ETQVILKKGK KVIFLEPGNV TMGKEISKKE EKKTFQKSPK
QGRKAVQKER KVGKIKREMT KEERDMSEEV EEMATLEEKV VKQEGKLVMI ERTPSWQDWK
KAWDEWKQVH GETRKSWKAW KEEWEKRLLQ EEEKLHQAGE KLSPEEEMLQ EDKKLKWEEW
KQVWENMLSS KSKEQQYKDE EEVTLEEEVS REGEEKEQQV TEEQRHIQEE HKWARIHRKR
AQAEKKRAQE ERKLAQEEEK LAQEERQLAQ EERKLAQAYV KITQDDREMA QAEGKFAQKE
ETLAQRGEKL SQEAEKLAQK RKKLAKKWEK VAREEEKLAK KGGKLAEVKN ILAQKVEELP
QREQNLDWQE KELAQELEEL EWDMEELSWK EEELNQEEGK LVEEKKKLAE EEEALAWQRE
KLSEEETKLA QEEELLIQEK EKLAQHKEKM PEEEERLGRK REQLIEKKMK LAQKRERWIN
SMEELTKNKM ILYQKKNLAQ EKKNLAQEKE KLAQRKENLL YNKERLTHSK KQLVQVKNKL
GMFNKILAQV EEKLTQEKET VIKKKEKLAE TEKKLVQVED SLAKKQEKLA QEKMKLALEK
AMVQGKKRLR GELDIAKEEK ALNLEMKRLA EEKMRLVEGK ETLSKGETPE TSRQRKMTQV
EQELFERKLS LEEKILLHED RILAMEESEI AKGKLEFTRG QRIFVQGQRK LAKASRKLIK
KRESLSKEPA KLNKILKALQ KLTRDERKLT QEEIKMTKMK RALFVKERRL SIEQSKLDIK
EWDFSEKRSE LTKDEKKLAR KQRKLANKMR RMINKEEKMT EEESKLARKH SEVILDDEEE
GGIEEEEVIP FLKRRWRKRK EAKRGDKPKE KFSSQVDEVE SEEHFSEEME SLLDELEKQE
SLSSEEEEER EEEEEREEEE VREEEEERKE EEEGEEKQVE KEEEEKKKKK KEKKKEEVQE
KEEVFEEKEE IMSEEETESL SDEEEEEESC SLEEEVDREK EILKKEKQFK LQEQRRKSLR
GRERVLSILR GVPHGKGRAI RLGVLKSPLK KLMSTALEMK EKTPVPVPEK QISWEDKKAT
VVEIPRKFLG TMDKEREVMG KYEPIPPHVL GTVLESQAQD LKTPFMSHIL RRTVEAEELQ
HKPLGAWWKW FLQHPPLMGQ TEVQLPLSQI PAKEQHADVS LSDVEWIRHV LERMEAGEQL
SRDGFHRLCQ LLKDLASKGN LEWLHLAKHE AIVYRHRQAL ESQDTRISSR QSMSPKYLKV
IPPIKAKEKE SWPKPLAVPT QKSPLATKRI PDPRAKNWHL LGEPYRSERA QQISIAHKEM
EMQYFYPATR DIFPSAHASV EKQTLALMFQ KDFWDFKDKR RFPKLPKLEK KTQPISKKKE
ELPLWETFVA LYHVLRMLQQ RYPKDSTAWM EQFYQLMDLY QLKSPRIQKL LQELLMREEP
QPQEIIYEEA LKATELVPGE RLFCCLFCGS SHTPRSPQEF QGAVPLPWQN CVRTILPVGI
ARYGILELAW KSLPEADLHL TKALTHTVAP TL*
speed 0.33 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