Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999823016 (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) chr10:64974537A>TN/A show variant in all transcripts   IGV
HGNC symbol JMJD1C
Ensembl transcript ID ENST00000399262
Genbank transcript ID NM_032776
UniProt peptide Q15652
alteration type single base exchange
alteration region CDS
DNA changes c.1390T>A
cDNA.1609T>A
g.251186T>A
AA changes S464T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 464
frameshift no
known variant Reference ID: rs10761725
databasehomozygous (T/T)heterozygousallele carriers
1000G76310351798
ExAC29186-256053581
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8150.054
0.3740.057
(flanking)2.230.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained2511820.86mu: ATTATTCATACGTCA TATT|cata
distance from splice site 375
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      464DTQLQEDMIIHSSEQSTVSDHNSN
mutated  all conserved    464DTQLQEDMIIHTSEQSTVSDHNS
Ptroglodytes  all identical  ENSPTRG00000002540  464DTQLQEDMIIHSSEQSTVSDHNS
Mmulatta  all identical  ENSMMUG00000017727  461DTQLQEDMIIHSSEQSTVSDHNS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000037876  464DSHLQDKMTLRSSEQATVADHNS
Ggallus  all conserved  ENSGALG00000002942  352LLDQQEKPSLHAAEQPTPY
Trubripes  no alignment  ENSTRUG00000001983  n/a
Drerio  not conserved  ENSDARG00000079939  504-TQLAESERLGERRSPLPPLASCTQNQAS
Dmelanogaster  no alignment  FBgn0037703  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000007684  320ESQLQEDKPPFLLSEQTALYEQNP
protein features
start (aa)end (aa)featuredetails 
488488CONFLICTT -> A (in Ref. 2; CAD97921).might get lost (downstream of altered splice site)
552552MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
638638MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
641641MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
779779CONFLICTT -> A (in Ref. 2; CAD97921).might get lost (downstream of altered splice site)
783783CONFLICTT -> P (in Ref. 2; CAD97921).might get lost (downstream of altered splice site)
18461871ZN_FINGC6-type (Potential).might get lost (downstream of altered splice site)
20662070MOTIFLXXLL motif.might get lost (downstream of altered splice site)
20932093CONFLICTS -> A (in Ref. 6; AAC41741).might get lost (downstream of altered splice site)
21482148CONFLICTMissing (in Ref. 5; BAA92618).might get lost (downstream of altered splice site)
22742498DOMAINJmjC.might get lost (downstream of altered splice site)
23362336METALIron; catalytic (By similarity).might get lost (downstream of altered splice site)
23382338METALIron; catalytic (By similarity).might get lost (downstream of altered splice site)
24662466METALIron; catalytic (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7623 / 7623
position (AA) of stopcodon in wt / mu AA sequence 2541 / 2541
position of stopcodon in wt / mu cDNA 7842 / 7842
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 220 / 220
chromosome 10
strand -1
last intron/exon boundary 7753
theoretical NMD boundary in CDS 7483
length of CDS 7623
coding sequence (CDS) position 1390
cDNA position
(for ins/del: last normal base / first normal base)		 1609
gDNA position
(for ins/del: last normal base / first normal base)		 251186
chromosomal position
(for ins/del: last normal base / first normal base)		 64974537
original gDNA sequence snippet AAGAAGATATGATTATTCATTCGTCAGAACAGTCCACAGTT
altered gDNA sequence snippet AAGAAGATATGATTATTCATACGTCAGAACAGTCCACAGTT
original cDNA sequence snippet AAGAAGATATGATTATTCATTCGTCAGAACAGTCCACAGTT
altered cDNA sequence snippet AAGAAGATATGATTATTCATACGTCAGAACAGTCCACAGTT
wildtype AA sequence MAVETRAELV GKRFLCVAVG DEARSERWES GRGWRSWRAG VIRAVSHRDS RNPDLAVYVE
FDDLEWDKRE WVKVYEDFST FLVEYHLIWA KRNDPSQTQG SKSKQIQWPA LTFKPLVERN
IPSSVTAVEF LVDKQLDFLT EDSAFQPYQD DIDSLNPVLR DNPQLHEEVK VWVKEQKVQE
IFMQGPYSLN GYRVRVYRQD SATQWFTGII THHDLFTRTM IVMNDQVLEP QNVDPSMVQM
TFLDDVVHSL LKGENIGITS RRRSRANQNV NAVHSHYTRA QANSPRPAMN SQAAVPKQNT
HQQQQQRSIR PNKRKGSDSS IPDEEKMKEE KYDYISRGEN PKGKNKHLMN KRRKPEEDEK
KLNMKRLRTD NVSDFSESSD SENSNKRIID NSSEQKPENE LKNKNTSKIN GEEGKPHNNE
KAGEETLKNS QPPWDQIQED KKHEEAEKRK SVDTQLQEDM IIHSSEQSTV SDHNSNDLLP
QECNMDKTHT MELLPKEKFV SRPPTPKCVI DITNDTNLEK VAQENSSTFG LQTLQKMDPN
VSDSKHSIAN AKFLETAKKD SDQSWVSDVV KVDLTQSSVT NASSGNDHLN MEKEKYVSYI
SPLSAVSVME DKLHKRSPPP ETIKSKLNTS VDTHKIKSSP SPEVVKPKIT HSPDSVKSKA
TYVNSQATGE RRLANKIEHE LSRCSFHPIP TRSSTLETTK SPLIIDKNEH FTVYRDPALI
GSETGANHIS PFLSQHPFPL HSSSHRTCLN PGTHHPALTP APHLLAGSSS QTPLPTINTH
PLTSGPHHAV HHPHLLPTVL PGVPTASLLG GHPRLESAHA SSLSHLALAH QQQQQLLQHQ
SPHLLGQAHP SASYNQLGLY PIIWQYPNGT HAYSGLGLPS SKWVHPENAV NAEASLRRNS
PSPWLHQPTP VTSADGIGLL SHIPVRPSSA EPHRPLKITA HSSPPLTKTL VDHHKEELER
KAFMEPLRSV ASTSAKNDLD LNRSQTGKDC HLHRHFVDPV LNQLQRPPQE TGERLNKYKE
EHRRILQESI DVAPFTTKIK GLEGERENYS RVASSSSSPK SHIIKQDMDV ERSVSDLYKM
KHSVPQSLPQ SNYFTTLSNS VVNEPPRSYP SKEVSNIYGD KQSNALAAAA ANPQTLTSFI
TSLSKPPPLI KHQPESEGLV GKIPEHLPHQ IASHSVTTFR NDCRSPTHLT VSSTNTLRSM
PALHRAPVFH PPIHHSLERK EGSYSSLSPP TLTPVMPVNA GGKVQESQKP PTLIPEPKDS
QANFKSSSEQ SLTEMWRPNN NLSKEKTEWH VEKSSGKLQA AMASVIVRPS SSTKTDSMPA
MQLASKDRVS ERSSAGAHKT DCLKLAEAGE TGRIILPNVN SDSVHTKSEK NFQAVSQGSV
PSSVMSAVNT MCNTKTDVIT SAADTTSVSS WGGSEVISSL SNTILASTSS ECVSSKSVSQ
PVAQKQECKV STTAPVTLAS SKTGSVVQPS SGFSGTTDFI HLKKHKAALA AAQYKSSNAS
ETEPNAIKNQ TLSASLPLDS TVICSTINKA NSVGNGQASQ TSQPNYHTKL KKAWLTRHSE
EDKNTNKMEN SGNSVSEIIK PCSVNLIAST SSDIQNSVDS KIIVDKYVKD DKVNRRKAKR
TYESGSESGD SDESESKSEQ RTKRQPKPTY KKKQNDLQKR KGEIEEDLKP NGVLSRSAKE
RSKLKLQSNS NTGIPRSVLK DWRKVKKLKQ TGESFLQDDS CCEIGPNLQK CRECRLIRSK
KGEEPAHSPV FCRFYYFRRL SFSKNGVVRI DGFSSPDQYD DEAMSLWTHE NFEDDELDIE
TSKYILDIIG DKFCQLVTSE KTALSWVKKD AKIAWKRAVR GVREMCDACE ATLFNIHWVC
QKCGFVVCLD CYKAKERKSS RDKELYAWMK CVKGQPHDHK HLMPTQIIPG SVLTDLLDAM
HTLREKYGIK SHCHCTNKQN LQVGNFPTMN GVSQVLQNVL NHSNKISLCM PESQQQNTPP
KSEKNGGSSP ESDVGTDNKL TPPESQSPLH WLADLAEQKA REEKKENKEL TLENQIKEER
EQDNSESPNG RTSPLVSQNN EQGSTLRDLL TTTAGKLRVG STDAGIAFAP VYSMGAPSSK
SGRTMPNILD DIIASVVENK IPPSKTSKIN VKPELKEEPE ESIISAVDEN NKLYSDIPHS
WICEKHILWL KDYKNSSNWK LFKECWKQGQ PAVVSGVHKK MNISLWKAES ISLDFGDHQA
DLLNCKDSII SNANVKEFWD GFEEVSKRQK NKSGETVVLK LKDWPSGEDF KTMMPARYED
LLKSLPLPEY CNPEGKFNLA SHLPGFFVRP DLGPRLCSAY GVVAAKDHDI GTTNLHIEVS
DVVNILVYVG IAKGNGILSK AGILKKFEEE DLDDILRKRL KDSSEIPGAL WHIYAGKDVD
KIREFLQKIS KEQGLEVLPE HDPIRDQSWY VNKKLRQRLL EEYGVRTCTL IQFLGDAIVL
PAGALHQVQN FHSCIQVTED FVSPEHLVES FHLTQELRLL KEEINYDDKL QVKNILYHAV
KEMVRALKIH EDEVEDMEEN *
mutated AA sequence MAVETRAELV GKRFLCVAVG DEARSERWES GRGWRSWRAG VIRAVSHRDS RNPDLAVYVE
FDDLEWDKRE WVKVYEDFST FLVEYHLIWA KRNDPSQTQG SKSKQIQWPA LTFKPLVERN
IPSSVTAVEF LVDKQLDFLT EDSAFQPYQD DIDSLNPVLR DNPQLHEEVK VWVKEQKVQE
IFMQGPYSLN GYRVRVYRQD SATQWFTGII THHDLFTRTM IVMNDQVLEP QNVDPSMVQM
TFLDDVVHSL LKGENIGITS RRRSRANQNV NAVHSHYTRA QANSPRPAMN SQAAVPKQNT
HQQQQQRSIR PNKRKGSDSS IPDEEKMKEE KYDYISRGEN PKGKNKHLMN KRRKPEEDEK
KLNMKRLRTD NVSDFSESSD SENSNKRIID NSSEQKPENE LKNKNTSKIN GEEGKPHNNE
KAGEETLKNS QPPWDQIQED KKHEEAEKRK SVDTQLQEDM IIHTSEQSTV SDHNSNDLLP
QECNMDKTHT MELLPKEKFV SRPPTPKCVI DITNDTNLEK VAQENSSTFG LQTLQKMDPN
VSDSKHSIAN AKFLETAKKD SDQSWVSDVV KVDLTQSSVT NASSGNDHLN MEKEKYVSYI
SPLSAVSVME DKLHKRSPPP ETIKSKLNTS VDTHKIKSSP SPEVVKPKIT HSPDSVKSKA
TYVNSQATGE RRLANKIEHE LSRCSFHPIP TRSSTLETTK SPLIIDKNEH FTVYRDPALI
GSETGANHIS PFLSQHPFPL HSSSHRTCLN PGTHHPALTP APHLLAGSSS QTPLPTINTH
PLTSGPHHAV HHPHLLPTVL PGVPTASLLG GHPRLESAHA SSLSHLALAH QQQQQLLQHQ
SPHLLGQAHP SASYNQLGLY PIIWQYPNGT HAYSGLGLPS SKWVHPENAV NAEASLRRNS
PSPWLHQPTP VTSADGIGLL SHIPVRPSSA EPHRPLKITA HSSPPLTKTL VDHHKEELER
KAFMEPLRSV ASTSAKNDLD LNRSQTGKDC HLHRHFVDPV LNQLQRPPQE TGERLNKYKE
EHRRILQESI DVAPFTTKIK GLEGERENYS RVASSSSSPK SHIIKQDMDV ERSVSDLYKM
KHSVPQSLPQ SNYFTTLSNS VVNEPPRSYP SKEVSNIYGD KQSNALAAAA ANPQTLTSFI
TSLSKPPPLI KHQPESEGLV GKIPEHLPHQ IASHSVTTFR NDCRSPTHLT VSSTNTLRSM
PALHRAPVFH PPIHHSLERK EGSYSSLSPP TLTPVMPVNA GGKVQESQKP PTLIPEPKDS
QANFKSSSEQ SLTEMWRPNN NLSKEKTEWH VEKSSGKLQA AMASVIVRPS SSTKTDSMPA
MQLASKDRVS ERSSAGAHKT DCLKLAEAGE TGRIILPNVN SDSVHTKSEK NFQAVSQGSV
PSSVMSAVNT MCNTKTDVIT SAADTTSVSS WGGSEVISSL SNTILASTSS ECVSSKSVSQ
PVAQKQECKV STTAPVTLAS SKTGSVVQPS SGFSGTTDFI HLKKHKAALA AAQYKSSNAS
ETEPNAIKNQ TLSASLPLDS TVICSTINKA NSVGNGQASQ TSQPNYHTKL KKAWLTRHSE
EDKNTNKMEN SGNSVSEIIK PCSVNLIAST SSDIQNSVDS KIIVDKYVKD DKVNRRKAKR
TYESGSESGD SDESESKSEQ RTKRQPKPTY KKKQNDLQKR KGEIEEDLKP NGVLSRSAKE
RSKLKLQSNS NTGIPRSVLK DWRKVKKLKQ TGESFLQDDS CCEIGPNLQK CRECRLIRSK
KGEEPAHSPV FCRFYYFRRL SFSKNGVVRI DGFSSPDQYD DEAMSLWTHE NFEDDELDIE
TSKYILDIIG DKFCQLVTSE KTALSWVKKD AKIAWKRAVR GVREMCDACE ATLFNIHWVC
QKCGFVVCLD CYKAKERKSS RDKELYAWMK CVKGQPHDHK HLMPTQIIPG SVLTDLLDAM
HTLREKYGIK SHCHCTNKQN LQVGNFPTMN GVSQVLQNVL NHSNKISLCM PESQQQNTPP
KSEKNGGSSP ESDVGTDNKL TPPESQSPLH WLADLAEQKA REEKKENKEL TLENQIKEER
EQDNSESPNG RTSPLVSQNN EQGSTLRDLL TTTAGKLRVG STDAGIAFAP VYSMGAPSSK
SGRTMPNILD DIIASVVENK IPPSKTSKIN VKPELKEEPE ESIISAVDEN NKLYSDIPHS
WICEKHILWL KDYKNSSNWK LFKECWKQGQ PAVVSGVHKK MNISLWKAES ISLDFGDHQA
DLLNCKDSII SNANVKEFWD GFEEVSKRQK NKSGETVVLK LKDWPSGEDF KTMMPARYED
LLKSLPLPEY CNPEGKFNLA SHLPGFFVRP DLGPRLCSAY GVVAAKDHDI GTTNLHIEVS
DVVNILVYVG IAKGNGILSK AGILKKFEEE DLDDILRKRL KDSSEIPGAL WHIYAGKDVD
KIREFLQKIS KEQGLEVLPE HDPIRDQSWY VNKKLRQRLL EEYGVRTCTL IQFLGDAIVL
PAGALHQVQN FHSCIQVTED FVSPEHLVES FHLTQELRLL KEEINYDDKL QVKNILYHAV
KEMVRALKIH EDEVEDMEEN *
speed 1.39 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