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 1.12 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