Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000399262
Querying Taster for transcript #2: ENST00000542921
Querying Taster for transcript #3: ENST00000402544
Querying Taster for transcript #4: ENST00000399251
MT speed 0 s - this script 5.021353 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
JMJD1Cpolymorphism_automatic1.7698398302457e-10simple_aaeaffectedS464Tsingle base exchangers10761725show file
JMJD1Cpolymorphism_automatic1.7698398302457e-10simple_aaeaffectedS282Tsingle base exchangers10761725show file
JMJD1Cpolymorphism_automatic1.7698398302457e-10simple_aaeaffectedS245Tsingle base exchangers10761725show file
JMJD1Cpolymorphism_automatic6.67925048603024e-10simple_aaeaffectedS245Tsingle base exchangers10761725show file

Taster files

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 1.03 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
back to results table
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 ENST00000542921
Genbank transcript ID N/A
UniProt peptide Q15652
alteration type single base exchange
alteration region CDS
DNA changes c.844T>A
cDNA.1461T>A
g.251186T>A
AA changes S282T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
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      282DTQLQEDMIIHSSEQSTVSDHNSN
mutated  all conserved    282DTQLQEDMIIHTSEQSTVSDHNS
Ptroglodytes  all identical  ENSPTRG00000002540  464DTQLQEDMIIHSSEQSTVSDHNS
Mmulatta  all identical  ENSMMUG00000017727  461DTQLQEDMIIHSSEQSTVSDHNS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000037876  464DSHLQDKMTLRSSEQATVADHNS
Ggallus  all conserved  ENSGALG00000002942  352LLDQQEKPSLHAAEQPTPYEQNS
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 
317317MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
373373MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
376376MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
379379MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
430430MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
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 7077 / 7077
position (AA) of stopcodon in wt / mu AA sequence 2359 / 2359
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 618 / 618
chromosome 10
strand -1
last intron/exon boundary 7605
theoretical NMD boundary in CDS 6937
length of CDS 7077
coding sequence (CDS) position 844
cDNA position
(for ins/del: last normal base / first normal base)		 1461
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 MQGPYSLNGY RVRVYRQDSA TQWFTGIITH HDLFTRTMIV MNDQVLEPQN VDPSMVQMTF
LDDVVHSLLK GENIGITSRR RSRANQNVNA VHSHYTRAQA NSPRPAMNSQ AAVPKQNTHQ
QQQQRSIRPN KRKGSDSSIP DEEKMKEEKY DYISRGENPK GKNKHLMNKR RKPEEDEKKL
NMKRLRTDNV SDFSESSDSE NSNKRIIDNS SEQKPENELK NKNTSKINGE EGKPHNNEKA
GEETLKNSQP PWDQIQEDKK HEEAEKRKSV DTQLQEDMII HSSEQSTVSD HNSNDLLPQE
CNMDKTHTME LLPKEKFVSR PPTPKCVIDI TNDTNLEKVA QENSSTFGLQ TLQKMDPNVS
DSKHSIANAK FLETAKKDSD QSWVSDVVKV DLTQSSVTNA SSGNDHLNME KEKYVSYISP
LSAVSVMEDK LHKRSPPPET IKSKLNTSVD THKIKSSPSP EVVKPKITHS PDSVKSKATY
VNSQATGERR LANKIEHELS RCSFHPIPTR SSTLETTKSP LIIDKNEHFT VYRDPALIGS
ETGANHISPF LSQHPFPLHS SSHRTCLNPG THHPALTPAP HLLAGSSSQT PLPTINTHPL
TSGPHHAVHH PHLLPTVLPG VPTASLLGGH PRLESAHASS LSHLALAHQQ QQQLLQHQSP
HLLGQAHPSA SYNQLGLYPI IWQYPNGTHA YSGLGLPSSK WVHPENAVNA EASLRRNSPS
PWLHQPTPVT SADGIGLLSH IPVRPSSAEP HRPLKITAHS SPPLTKTLVD HHKEELERKA
FMEPLRSVAS TSAKNDLDLN RSQTGKDCHL HRHFVDPVLN QLQRPPQETG ERLNKYKEEH
RRILQESIDV APFTTKIKGL EGERENYSRV ASSSSSPKSH IIKQDMDVER SVSDLYKMKH
SVPQSLPQSN YFTTLSNSVV NEPPRSYPSK EVSNIYGDKQ SNALAAAAAN PQTLTSFITS
LSKPPPLIKH QPESEGLVGK IPEHLPHQIA SHSVTTFRND CRSPTHLTVS STNTLRSMPA
LHRAPVFHPP IHHSLERKEG SYSSLSPPTL TPVMPVNAGG KVQESQKPPT LIPEPKDSQA
NFKSSSEQSL TEMWRPNNNL SKEKTEWHVE KSSGKLQAAM ASVIVRPSSS TKTDSMPAMQ
LASKDRVSER SSAGAHKTDC LKLAEAGETG RIILPNVNSD SVHTKSEKNF QAVSQGSVPS
SVMSAVNTMC NTKTDVITSA ADTTSVSSWG GSEVISSLSN TILASTSSEC VSSKSVSQPV
AQKQECKVST TAPVTLASSK TGSVVQPSSG FSGTTDFIHL KKHKAALAAA QYKSSNASET
EPNAIKNQTL SASLPLDSTV ICSTINKANS VGNGQASQTS QPNYHTKLKK AWLTRHSEED
KNTNKMENSG NSVSEIIKPC SVNLIASTSS DIQNSVDSKI IVDKYVKDDK VNRRKAKRTY
ESGSESGDSD ESESKSEQRT KRQPKPTYKK KQNDLQKRKG EIEEDLKPNG VLSRSAKERS
KLKLQSNSNT GIPRSVLKDW RKVKKLKQTG ESFLQDDSCC EIGPNLQKCR ECRLIRSKKG
EEPAHSPVFC RFYYFRRLSF SKNGVVRIDG FSSPDQYDDE AMSLWTHENF EDDELDIETS
KYILDIIGDK FCQLVTSEKT ALSWVKKDAK IAWKRAVRGV REMCDACEAT LFNIHWVCQK
CGFVVCLDCY KAKERKSSRD KELYAWMKCV KGQPHDHKHL MPTQIIPGSV LTDLLDAMHT
LREKYGIKSH CHCTNKQNLQ VGNFPTMNGV SQVLQNVLNH SNKISLCMPE SQQQNTPPKS
EKNGGSSPES DVGTDNKLTP PESQSPLHWL ADLAEQKARE EKKENKELTL ENQIKEEREQ
DNSESPNGRT SPLVSQNNEQ GSTLRDLLTT TAGKLRVGST DAGIAFAPVY SMGAPSSKSG
RTMPNILDDI IASVVENKIP PSKTSKINVK PELKEEPEES IISAVDENNK LYSDIPHSWI
CEKHILWLKD YKNSSNWKLF KECWKQGQPA VVSGVHKKMN ISLWKAESIS LDFGDHQADL
LNCKDSIISN ANVKEFWDGF EEVSKRQKNK SGETVVLKLK DWPSGEDFKT MMPARYEDLL
KSLPLPEYCN PEGKFNLASH LPGFFVRPDL GPRLCSAYGV VAAKDHDIGT TNLHIEVSDV
VNILVYVGIA KGNGILSKAG ILKKFEEEDL DDILRKRLKD SSEIPGALWH IYAGKDVDKI
REFLQKISKE QGLEVLPEHD PIRDQSWYVN KKLRQRLLEE YGVRTCTLIQ FLGDAIVLPA
GALHQVQNFH SCIQVTEDFV SPEHLVESFH LTQELRLLKE EINYDDKLQV KNILYHAVKE
MVRALKIHED EVEDMEEN*
mutated AA sequence MQGPYSLNGY RVRVYRQDSA TQWFTGIITH HDLFTRTMIV MNDQVLEPQN VDPSMVQMTF
LDDVVHSLLK GENIGITSRR RSRANQNVNA VHSHYTRAQA NSPRPAMNSQ AAVPKQNTHQ
QQQQRSIRPN KRKGSDSSIP DEEKMKEEKY DYISRGENPK GKNKHLMNKR RKPEEDEKKL
NMKRLRTDNV SDFSESSDSE NSNKRIIDNS SEQKPENELK NKNTSKINGE EGKPHNNEKA
GEETLKNSQP PWDQIQEDKK HEEAEKRKSV DTQLQEDMII HTSEQSTVSD HNSNDLLPQE
CNMDKTHTME LLPKEKFVSR PPTPKCVIDI TNDTNLEKVA QENSSTFGLQ TLQKMDPNVS
DSKHSIANAK FLETAKKDSD QSWVSDVVKV DLTQSSVTNA SSGNDHLNME KEKYVSYISP
LSAVSVMEDK LHKRSPPPET IKSKLNTSVD THKIKSSPSP EVVKPKITHS PDSVKSKATY
VNSQATGERR LANKIEHELS RCSFHPIPTR SSTLETTKSP LIIDKNEHFT VYRDPALIGS
ETGANHISPF LSQHPFPLHS SSHRTCLNPG THHPALTPAP HLLAGSSSQT PLPTINTHPL
TSGPHHAVHH PHLLPTVLPG VPTASLLGGH PRLESAHASS LSHLALAHQQ QQQLLQHQSP
HLLGQAHPSA SYNQLGLYPI IWQYPNGTHA YSGLGLPSSK WVHPENAVNA EASLRRNSPS
PWLHQPTPVT SADGIGLLSH IPVRPSSAEP HRPLKITAHS SPPLTKTLVD HHKEELERKA
FMEPLRSVAS TSAKNDLDLN RSQTGKDCHL HRHFVDPVLN QLQRPPQETG ERLNKYKEEH
RRILQESIDV APFTTKIKGL EGERENYSRV ASSSSSPKSH IIKQDMDVER SVSDLYKMKH
SVPQSLPQSN YFTTLSNSVV NEPPRSYPSK EVSNIYGDKQ SNALAAAAAN PQTLTSFITS
LSKPPPLIKH QPESEGLVGK IPEHLPHQIA SHSVTTFRND CRSPTHLTVS STNTLRSMPA
LHRAPVFHPP IHHSLERKEG SYSSLSPPTL TPVMPVNAGG KVQESQKPPT LIPEPKDSQA
NFKSSSEQSL TEMWRPNNNL SKEKTEWHVE KSSGKLQAAM ASVIVRPSSS TKTDSMPAMQ
LASKDRVSER SSAGAHKTDC LKLAEAGETG RIILPNVNSD SVHTKSEKNF QAVSQGSVPS
SVMSAVNTMC NTKTDVITSA ADTTSVSSWG GSEVISSLSN TILASTSSEC VSSKSVSQPV
AQKQECKVST TAPVTLASSK TGSVVQPSSG FSGTTDFIHL KKHKAALAAA QYKSSNASET
EPNAIKNQTL SASLPLDSTV ICSTINKANS VGNGQASQTS QPNYHTKLKK AWLTRHSEED
KNTNKMENSG NSVSEIIKPC SVNLIASTSS DIQNSVDSKI IVDKYVKDDK VNRRKAKRTY
ESGSESGDSD ESESKSEQRT KRQPKPTYKK KQNDLQKRKG EIEEDLKPNG VLSRSAKERS
KLKLQSNSNT GIPRSVLKDW RKVKKLKQTG ESFLQDDSCC EIGPNLQKCR ECRLIRSKKG
EEPAHSPVFC RFYYFRRLSF SKNGVVRIDG FSSPDQYDDE AMSLWTHENF EDDELDIETS
KYILDIIGDK FCQLVTSEKT ALSWVKKDAK IAWKRAVRGV REMCDACEAT LFNIHWVCQK
CGFVVCLDCY KAKERKSSRD KELYAWMKCV KGQPHDHKHL MPTQIIPGSV LTDLLDAMHT
LREKYGIKSH CHCTNKQNLQ VGNFPTMNGV SQVLQNVLNH SNKISLCMPE SQQQNTPPKS
EKNGGSSPES DVGTDNKLTP PESQSPLHWL ADLAEQKARE EKKENKELTL ENQIKEEREQ
DNSESPNGRT SPLVSQNNEQ GSTLRDLLTT TAGKLRVGST DAGIAFAPVY SMGAPSSKSG
RTMPNILDDI IASVVENKIP PSKTSKINVK PELKEEPEES IISAVDENNK LYSDIPHSWI
CEKHILWLKD YKNSSNWKLF KECWKQGQPA VVSGVHKKMN ISLWKAESIS LDFGDHQADL
LNCKDSIISN ANVKEFWDGF EEVSKRQKNK SGETVVLKLK DWPSGEDFKT MMPARYEDLL
KSLPLPEYCN PEGKFNLASH LPGFFVRPDL GPRLCSAYGV VAAKDHDIGT TNLHIEVSDV
VNILVYVGIA KGNGILSKAG ILKKFEEEDL DDILRKRLKD SSEIPGALWH IYAGKDVDKI
REFLQKISKE QGLEVLPEHD PIRDQSWYVN KKLRQRLLEE YGVRTCTLIQ FLGDAIVLPA
GALHQVQNFH SCIQVTEDFV SPEHLVESFH LTQELRLLKE EINYDDKLQV KNILYHAVKE
MVRALKIHED EVEDMEEN*
speed 1.20 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
back to results table
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 ENST00000402544
Genbank transcript ID NM_004241
UniProt peptide Q15652
alteration type single base exchange
alteration region CDS
DNA changes c.733T>A
cDNA.1397T>A
g.251186T>A
AA changes S245T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 245
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      245DTQLQEDMIIHSSEQSTVSDHNSN
mutated  all conserved    245MIIHTSEQSTVSDHNS
Ptroglodytes  all identical  ENSPTRG00000002540  464MIIHSSEQSTVSDHNS
Mmulatta  all identical  ENSMMUG00000017727  461MIIHSSEQSTVSDHNS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000037876  464KMTLRSSEQATVADHNS
Ggallus  all conserved  ENSGALG00000002942  351PSLHAAEQPTPYEQNS
Trubripes  no alignment  ENSTRUG00000001983  n/a
Drerio  not conserved  ENSDARG00000079939  504-TQLAESERLGERRSPLPPLASC
Dmelanogaster  no alignment  FBgn0037703  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000007684  319LLSEQTALYEQNP
protein features
start (aa)end (aa)featuredetails 
317317MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
373373MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
376376MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
379379MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
430430MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
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 6912 / 6912
position (AA) of stopcodon in wt / mu AA sequence 2304 / 2304
position of stopcodon in wt / mu cDNA 7576 / 7576
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 665 / 665
chromosome 10
strand -1
last intron/exon boundary 7487
theoretical NMD boundary in CDS 6772
length of CDS 6912
coding sequence (CDS) position 733
cDNA position
(for ins/del: last normal base / first normal base)		 1397
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 MIVMNDQVLE PQNVDPSMVQ MTFLDDVVHS LLKGENIGIT SRRRSRANQN VNAVHSHYTR
AQANSPRPAM NSQAAVPKQN THQQQQQRSI RPNKRKGSDS SIPDEEKMKE EKYDYISRGE
NPKGKNKHLM NKRRKPEEDE KKLNMKRLRT DNVSDFSESS DSENSNKRII DNSSEQKPEN
ELKNKNTSKI NGEEGKPHNN EKAGEETLKN SQPPWDQIQE DKKHEEAEKR KSVDTQLQED
MIIHSSEQST VSDHNSNDLL PQECNMDKTH TMELLPKEKF VSRPPTPKCV IDITNDTNLE
KVAQENSSTF GLQTLQKMDP NVSDSKHSIA NAKFLETAKK DSDQSWVSDV VKVDLTQSSV
TNASSGNDHL NMEKEKYVSY ISPLSAVSVM EDKLHKRSPP PETIKSKLNT SVDTHKIKSS
PSPEVVKPKI THSPDSVKSK ATYVNSQATG ERRLANKIEH ELSRCSFHPI PTRSSTLETT
KSPLIIDKNE HFTVYRDPAL IGSETGANHI SPFLSQHPFP LHSSSHRTCL NPGTHHPALT
PAPHLLAGSS SQTPLPTINT HPLTSGPHHA VHHPHLLPTV LPGVPTASLL GGHPRLESAH
ASSLSHLALA HQQQQQLLQH QSPHLLGQAH PSASYNQLGL YPIIWQYPNG THAYSGLGLP
SSKWVHPENA VNAEASLRRN SPSPWLHQPT PVTSADGIGL LSHIPVRPSS AEPHRPLKIT
AHSSPPLTKT LVDHHKEELE RKAFMEPLRS VASTSAKNDL DLNRSQTGKD CHLHRHFVDP
VLNQLQRPPQ ETGERLNKYK EEHRRILQES IDVAPFTTKI KGLEGERENY SRVASSSSSP
KSHIIKQDMD VERSVSDLYK MKHSVPQSLP QSNYFTTLSN SVVNEPPRSY PSKEVSNIYG
DKQSNALAAA AANPQTLTSF ITSLSKPPPL IKHQPESEGL VGKIPEHLPH QIASHSVTTF
RNDCRSPTHL TVSSTNTLRS MPALHRAPVF HPPIHHSLER KEGSYSSLSP PTLTPVMPVN
AGGKVQESQK PPTLIPEPKD SQANFKSSSE QSLTEMWRPN NNLSKEKTEW HVEKSSGKLQ
AAMASVIVRP SSSTKTDSMP AMQLASKDRV SERSSAGAHK TDCLKLAEAG ETGRIILPNV
NSDSVHTKSE KNFQAVSQGS VPSSVMSAVN TMCNTKTDVI TSAADTTSVS SWGGSEVISS
LSNTILASTS SECVSSKSVS QPVAQKQECK VSTTAPVTLA SSKTGSVVQP SSGFSGTTDF
IHLKKHKAAL AAAQYKSSNA SETEPNAIKN QTLSASLPLD STVICSTINK ANSVGNGQAS
QTSQPNYHTK LKKAWLTRHS EEDKNTNKME NSGNSVSEII KPCSVNLIAS TSSDIQNSVD
SKIIVDKYVK DDKVNRRKAK RTYESGSESG DSDESESKSE QRTKRQPKPT YKKKQNDLQK
RKGEIEEDLK PNGVLSRSAK ERSKLKLQSN SNTGIPRSVL KDWRKVKKLK QTGESFLQDD
SCCEIGPNLQ KCRECRLIRS KKGEEPAHSP VFCRFYYFRR LSFSKNGVVR IDGFSSPDQY
DDEAMSLWTH ENFEDDELDI ETSKYILDII GDKFCQLVTS EKTALSWVKK DAKIAWKRAV
RGVREMCDAC EATLFNIHWV CQKCGFVVCL DCYKAKERKS SRDKELYAWM KCVKGQPHDH
KHLMPTQIIP GSVLTDLLDA MHTLREKYGI KSHCHCTNKQ NLQVGNFPTM NGVSQSQQQN
TPPKSEKNGG SSPESDVGTD NKLTPPESQS PLHWLADLAE QKAREEKKEN KELTLENQIK
EEREQDNSES PNGRTSPLVS QNNEQGSTLR DLLTTTAGKL RVGSTDAGIA FAPVYSMGAP
SSKSGRTMPN ILDDIIASVV ENKIPPSKTS KINVKPELKE EPEESIISAV DENNKLYSDI
PHSWICEKHI LWLKDYKNSS NWKLFKECWK QGQPAVVSGV HKKMNISLWK AESISLDFGD
HQADLLNCKD SIISNANVKE FWDGFEEVSK RQKNKSGETV VLKLKDWPSG EDFKTMMPAR
YEDLLKSLPL PEYCNPEGKF NLASHLPGFF VRPDLGPRLC SAYGVVAAKD HDIGTTNLHI
EVSDVVNILV YVGIAKGNGI LSKAGILKKF EEEDLDDILR KRLKDSSEIP GALWHIYAGK
DVDKIREFLQ KISKEQGLEV LPEHDPIRDQ SWYVNKKLRQ RLLEEYGVRT CTLIQFLGDA
IVLPAGALHQ VQNFHSCIQV TEDFVSPEHL VESFHLTQEL RLLKEEINYD DKLQVKNILY
HAVKEMVRAL KIHEDEVEDM EEN*
mutated AA sequence MIVMNDQVLE PQNVDPSMVQ MTFLDDVVHS LLKGENIGIT SRRRSRANQN VNAVHSHYTR
AQANSPRPAM NSQAAVPKQN THQQQQQRSI RPNKRKGSDS SIPDEEKMKE EKYDYISRGE
NPKGKNKHLM NKRRKPEEDE KKLNMKRLRT DNVSDFSESS DSENSNKRII DNSSEQKPEN
ELKNKNTSKI NGEEGKPHNN EKAGEETLKN SQPPWDQIQE DKKHEEAEKR KSVDTQLQED
MIIHTSEQST VSDHNSNDLL PQECNMDKTH TMELLPKEKF VSRPPTPKCV IDITNDTNLE
KVAQENSSTF GLQTLQKMDP NVSDSKHSIA NAKFLETAKK DSDQSWVSDV VKVDLTQSSV
TNASSGNDHL NMEKEKYVSY ISPLSAVSVM EDKLHKRSPP PETIKSKLNT SVDTHKIKSS
PSPEVVKPKI THSPDSVKSK ATYVNSQATG ERRLANKIEH ELSRCSFHPI PTRSSTLETT
KSPLIIDKNE HFTVYRDPAL IGSETGANHI SPFLSQHPFP LHSSSHRTCL NPGTHHPALT
PAPHLLAGSS SQTPLPTINT HPLTSGPHHA VHHPHLLPTV LPGVPTASLL GGHPRLESAH
ASSLSHLALA HQQQQQLLQH QSPHLLGQAH PSASYNQLGL YPIIWQYPNG THAYSGLGLP
SSKWVHPENA VNAEASLRRN SPSPWLHQPT PVTSADGIGL LSHIPVRPSS AEPHRPLKIT
AHSSPPLTKT LVDHHKEELE RKAFMEPLRS VASTSAKNDL DLNRSQTGKD CHLHRHFVDP
VLNQLQRPPQ ETGERLNKYK EEHRRILQES IDVAPFTTKI KGLEGERENY SRVASSSSSP
KSHIIKQDMD VERSVSDLYK MKHSVPQSLP QSNYFTTLSN SVVNEPPRSY PSKEVSNIYG
DKQSNALAAA AANPQTLTSF ITSLSKPPPL IKHQPESEGL VGKIPEHLPH QIASHSVTTF
RNDCRSPTHL TVSSTNTLRS MPALHRAPVF HPPIHHSLER KEGSYSSLSP PTLTPVMPVN
AGGKVQESQK PPTLIPEPKD SQANFKSSSE QSLTEMWRPN NNLSKEKTEW HVEKSSGKLQ
AAMASVIVRP SSSTKTDSMP AMQLASKDRV SERSSAGAHK TDCLKLAEAG ETGRIILPNV
NSDSVHTKSE KNFQAVSQGS VPSSVMSAVN TMCNTKTDVI TSAADTTSVS SWGGSEVISS
LSNTILASTS SECVSSKSVS QPVAQKQECK VSTTAPVTLA SSKTGSVVQP SSGFSGTTDF
IHLKKHKAAL AAAQYKSSNA SETEPNAIKN QTLSASLPLD STVICSTINK ANSVGNGQAS
QTSQPNYHTK LKKAWLTRHS EEDKNTNKME NSGNSVSEII KPCSVNLIAS TSSDIQNSVD
SKIIVDKYVK DDKVNRRKAK RTYESGSESG DSDESESKSE QRTKRQPKPT YKKKQNDLQK
RKGEIEEDLK PNGVLSRSAK ERSKLKLQSN SNTGIPRSVL KDWRKVKKLK QTGESFLQDD
SCCEIGPNLQ KCRECRLIRS KKGEEPAHSP VFCRFYYFRR LSFSKNGVVR IDGFSSPDQY
DDEAMSLWTH ENFEDDELDI ETSKYILDII GDKFCQLVTS EKTALSWVKK DAKIAWKRAV
RGVREMCDAC EATLFNIHWV CQKCGFVVCL DCYKAKERKS SRDKELYAWM KCVKGQPHDH
KHLMPTQIIP GSVLTDLLDA MHTLREKYGI KSHCHCTNKQ NLQVGNFPTM NGVSQSQQQN
TPPKSEKNGG SSPESDVGTD NKLTPPESQS PLHWLADLAE QKAREEKKEN KELTLENQIK
EEREQDNSES PNGRTSPLVS QNNEQGSTLR DLLTTTAGKL RVGSTDAGIA FAPVYSMGAP
SSKSGRTMPN ILDDIIASVV ENKIPPSKTS KINVKPELKE EPEESIISAV DENNKLYSDI
PHSWICEKHI LWLKDYKNSS NWKLFKECWK QGQPAVVSGV HKKMNISLWK AESISLDFGD
HQADLLNCKD SIISNANVKE FWDGFEEVSK RQKNKSGETV VLKLKDWPSG EDFKTMMPAR
YEDLLKSLPL PEYCNPEGKF NLASHLPGFF VRPDLGPRLC SAYGVVAAKD HDIGTTNLHI
EVSDVVNILV YVGIAKGNGI LSKAGILKKF EEEDLDDILR KRLKDSSEIP GALWHIYAGK
DVDKIREFLQ KISKEQGLEV LPEHDPIRDQ SWYVNKKLRQ RLLEEYGVRT CTLIQFLGDA
IVLPAGALHQ VQNFHSCIQV TEDFVSPEHL VESFHLTQEL RLLKEEINYD DKLQVKNILY
HAVKEMVRAL KIHEDEVEDM EEN*
speed 0.77 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999332075 (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 ENST00000399251
Genbank transcript ID N/A
UniProt peptide Q15652
alteration type single base exchange
alteration region CDS
DNA changes c.733T>A
cDNA.1690T>A
g.251186T>A
AA changes S245T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 245
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      245DTQLQEDMIIHSSEQSTVSDHNSN
mutated  all conserved    245MIIHTSEQSTVSDHNS
Ptroglodytes  all identical  ENSPTRG00000002540  464MIIHSSEQSTVSDHNS
Mmulatta  all identical  ENSMMUG00000017727  461MIIHSSEQSTVSDHNS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000037876  464KMTLRSSEQATVADHNS
Ggallus  all conserved  ENSGALG00000002942  351PSLHAAEQPTPYEQNS
Trubripes  no alignment  ENSTRUG00000001983  n/a
Drerio  not conserved  ENSDARG00000079939  504-TQLAESERLGERRSPLPPLASC
Dmelanogaster  all conserved  FBgn0037703  205DIQVCRYILLHAGDQFCYIWHQE
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000007684  319LLSEQTALYEQNP
protein features
start (aa)end (aa)featuredetails 
317317MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
373373MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
376376MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
379379MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
430430MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
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 4443 / 4443
position (AA) of stopcodon in wt / mu AA sequence 1481 / 1481
position of stopcodon in wt / mu cDNA 5400 / 5400
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 958 / 958
chromosome 10
strand -1
last intron/exon boundary 7632
theoretical NMD boundary in CDS 6624
length of CDS 4443
coding sequence (CDS) position 733
cDNA position
(for ins/del: last normal base / first normal base)		 1690
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 MIVMNDQVLE PQNVDPSMVQ MTFLDDVVHS LLKGENIGIT SRRRSRANQN VNAVHSHYTR
AQANSPRPAM NSQAAVPKQN THQQQQQRSI RPNKRKGSDS SIPDEEKMKE EKYDYISRGE
NPKGKNKHLM NKRRKPEEDE KKLNMKRLRT DNVSDFSESS DSENSNKRII DNSSEQKPEN
ELKNKNTSKI NGEEGKPHNN EKAGEETLKN SQPPWDQIQE DKKHEEAEKR KSVDTQLQED
MIIHSSEQST VSDHNSNDLL PQECNMDKTH TMELLPKEKF VSRPPTPKCV IDITNDTNLE
KVAQENSSTF GLQTLQKMDP NVSDSKHSIA NAKFLETAKK DSDQSWVSDV VKVDLTQSSV
TNASSGNDHL NMEKEKYVSY ISPLSAVSVM EDKLHKRSPP PETIKSKLNT SVDTHKIKSS
PSPEVVKPKI THSPDSVKSK ATYVNSQATG ERRLANKIEH ELSRCSFHPI PTRSSTLETT
KSPLIIDKNE HFTVYRDPAL IGSETGANHI SPFLSQHPFP LHSSSHRTCL NPGTHHPALT
PAPHLLAGSS SQTPLPTINT HPLTSGPHHA VHHPHLLPTV LPGVPTASLL GGHPRLESAH
ASSLSHLALA HQQQQQLLQH QSPHLLGQAH PSASYNQLGL YPIIWQYPNG THAYSGLGLP
SSKWVHPENA VNAEASLRRN SPSPWLHQPT PVTSADGIGL LSHIPVRPSS AEPHRPLKIT
AHSSPPLTKT LVDHHKEELE RKAFMEPLRS VASTSAKNDL DLNRSQTGKD CHLHRHFVDP
VLNQLQRPPQ ETGERLNKYK EEHRRILQES IDVAPFTTKI KGLEGERENY SRVASSSSSP
KSHIIKQDMD VERSVSDLYK MKHSVPQSLP QSNYFTTLSN SVVNEPPRSY PSKEVSNIYG
DKQSNALAAA AANPQTLTSF ITSLSKPPPL IKHQPESEGL VGKIPEHLPH QIASHSVTTF
RNDCRSPTHL TVSSTNTLRS MPALHRAPVF HPPIHHSLER KEGSYSSLSP PTLTPVMPVN
AGGKVQESQK PPTLIPEPKD SQANFKSSSE QSLTEMWRPN NNLSKEKTEW HVEKSSGKLQ
AAMASVIVRP SSSTKTDSMP AMQLASKDRV SERSSAGAHK TDCLKLAEAG ETGRIILPNV
NSDSVHTKSE KNFQAVSQGS VPSSVMSAVN TMCNTKTDVI TSAADTTSVS SWGGSEVISS
LSNTILASTS SECVSSKSVS QPVAQKQECK VSTTAPVTLA SSKTGSVVQP SSGFSGTTDF
IHLKKHKAAL AAAQYKSSNA SETEPNAIKN QTLSASLPLD STVICSTINK ANSVGNGQAS
QTSQPNYHTK LKKAWLTRHS EEDKNTNKME NSGNSVSEII KPCSVNLIAS TSSDIQNSVD
SKIIVDKYVK DDKVNRRKAK RTYESGSESG DSDESESKSE QRTKRQPKPT YKKKQNDLQK
RKGEIEEDLK PNGVLSRSAK ERSKLKLQSN SNSCHLVKTE *
mutated AA sequence MIVMNDQVLE PQNVDPSMVQ MTFLDDVVHS LLKGENIGIT SRRRSRANQN VNAVHSHYTR
AQANSPRPAM NSQAAVPKQN THQQQQQRSI RPNKRKGSDS SIPDEEKMKE EKYDYISRGE
NPKGKNKHLM NKRRKPEEDE KKLNMKRLRT DNVSDFSESS DSENSNKRII DNSSEQKPEN
ELKNKNTSKI NGEEGKPHNN EKAGEETLKN SQPPWDQIQE DKKHEEAEKR KSVDTQLQED
MIIHTSEQST VSDHNSNDLL PQECNMDKTH TMELLPKEKF VSRPPTPKCV IDITNDTNLE
KVAQENSSTF GLQTLQKMDP NVSDSKHSIA NAKFLETAKK DSDQSWVSDV VKVDLTQSSV
TNASSGNDHL NMEKEKYVSY ISPLSAVSVM EDKLHKRSPP PETIKSKLNT SVDTHKIKSS
PSPEVVKPKI THSPDSVKSK ATYVNSQATG ERRLANKIEH ELSRCSFHPI PTRSSTLETT
KSPLIIDKNE HFTVYRDPAL IGSETGANHI SPFLSQHPFP LHSSSHRTCL NPGTHHPALT
PAPHLLAGSS SQTPLPTINT HPLTSGPHHA VHHPHLLPTV LPGVPTASLL GGHPRLESAH
ASSLSHLALA HQQQQQLLQH QSPHLLGQAH PSASYNQLGL YPIIWQYPNG THAYSGLGLP
SSKWVHPENA VNAEASLRRN SPSPWLHQPT PVTSADGIGL LSHIPVRPSS AEPHRPLKIT
AHSSPPLTKT LVDHHKEELE RKAFMEPLRS VASTSAKNDL DLNRSQTGKD CHLHRHFVDP
VLNQLQRPPQ ETGERLNKYK EEHRRILQES IDVAPFTTKI KGLEGERENY SRVASSSSSP
KSHIIKQDMD VERSVSDLYK MKHSVPQSLP QSNYFTTLSN SVVNEPPRSY PSKEVSNIYG
DKQSNALAAA AANPQTLTSF ITSLSKPPPL IKHQPESEGL VGKIPEHLPH QIASHSVTTF
RNDCRSPTHL TVSSTNTLRS MPALHRAPVF HPPIHHSLER KEGSYSSLSP PTLTPVMPVN
AGGKVQESQK PPTLIPEPKD SQANFKSSSE QSLTEMWRPN NNLSKEKTEW HVEKSSGKLQ
AAMASVIVRP SSSTKTDSMP AMQLASKDRV SERSSAGAHK TDCLKLAEAG ETGRIILPNV
NSDSVHTKSE KNFQAVSQGS VPSSVMSAVN TMCNTKTDVI TSAADTTSVS SWGGSEVISS
LSNTILASTS SECVSSKSVS QPVAQKQECK VSTTAPVTLA SSKTGSVVQP SSGFSGTTDF
IHLKKHKAAL AAAQYKSSNA SETEPNAIKN QTLSASLPLD STVICSTINK ANSVGNGQAS
QTSQPNYHTK LKKAWLTRHS EEDKNTNKME NSGNSVSEII KPCSVNLIAS TSSDIQNSVD
SKIIVDKYVK DDKVNRRKAK RTYESGSESG DSDESESKSE QRTKRQPKPT YKKKQNDLQK
RKGEIEEDLK PNGVLSRSAK ERSKLKLQSN SNSCHLVKTE *
speed 0.99 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
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Problems