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 1.17 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