Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999913376464669 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:6711147C>AN/A show variant in all transcripts   IGV
HGNC symbol CHD4
Ensembl transcript ID ENST00000309577
Genbank transcript ID N/A
UniProt peptide Q14839
alteration type single base exchange
alteration region CDS
DNA changes c.417G>T
cDNA.581G>T
g.5496G>T
AA changes E139D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 139
frameshift no
known variant Reference ID: rs1639122
databasehomozygous (A/A)heterozygousallele carriers
1000G8909901880
ExAC81501646724617
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.9250.964
-1.4890.204
(flanking)4.6210.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      139SKSKRKEEEEEEDDDDDSKEPKSS
mutated  all conserved    139SKSKRKEEEEEDDDDDDSKEPKS
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000018685  139SKSKRKEEEEEDDDDDDSKEPKS
Fcatus  all conserved  ENSFCAG00000006877  105SKSKRKEEEEEDDDDDDSKEPKS
Mmusculus  all identical  ENSMUSG00000063870  139SKSKRKEEEEEEDEDDDSKEPKS
Ggallus  all identical  ENSGALG00000013565  109SKAKRKEEEDEEEEDDDSKEPKS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000063535  123AASKRREPEEEEDEDDDDSEPKS
Dmelanogaster  not conserved  FBgn0262519  137SASSGMPSVED---
Celegans  not conserved  T14G8.1  78GK---KSSKKKNNC
Xtropicalis  all conserved  ENSXETG00000018961  107SKAKRGPVAKKKKCS
protein features
start (aa)end (aa)featuredetails 
139144COMPBIASPoly-Asp.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5823 / 5823
position (AA) of stopcodon in wt / mu AA sequence 1941 / 1941
position of stopcodon in wt / mu cDNA 5987 / 5987
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 165 / 165
chromosome 12
strand -1
last intron/exon boundary 5970
theoretical NMD boundary in CDS 5755
length of CDS 5823
coding sequence (CDS) position 417
cDNA position
(for ins/del: last normal base / first normal base)		 581
gDNA position
(for ins/del: last normal base / first normal base)		 5496
chromosomal position
(for ins/del: last normal base / first normal base)		 6711147
original gDNA sequence snippet AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA
altered gDNA sequence snippet AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA
original cDNA sequence snippet AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA
altered cDNA sequence snippet AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA
wildtype AA sequence MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKERMLLCR QLGDSSGEGP EFVEEEEEVA LRSDSEGSDY TPGKKKKKKL
GPKKEKKSKS KRKEEEEEED DDDDSKEPKS SAQLLEDWGM EDIDHVFSEE DYRTLTNYKA
FSQFVRPLIA AKNPKIAVSK MMMVLGAKWR EFSTNNPFKG SSGASVAAAA AAAVAVVESM
VTATEVAPPP PPVEVPIRKA KTKEGKGPNA RRKPKGSPRV PDAKKPKPKK VAPLKIKLGG
FGSKRKRSSS EDDDLDVESD FDDASINSYS VSDGSTSRSS RSRKKLRTTK KKKKGEEEVT
AVDGYETDHQ DYCEVCQQGG EIILCDTCPR AYHMVCLDPD MEKAPEGKWS CPHCEKEGIQ
WEAKEDNSEG EEILEEVGGD LEEEDDHHME FCRVCKDGGE LLCCDTCPSS YHIHCLNPPL
PEIPNGEWLC PRCTCPALKG KVQKILIWKW GQPPSPTPVP RPPDADPNTP SPKPLEGRPE
RQFFVKWQGM SYWHCSWVSE LQLELHCQVM FRNYQRKNDM DEPPSGDFGG DEEKSRKRKN
KDPKFAEMEE RFYRYGIKPE WMMIHRILNH SVDKKGHVHY LIKWRDLPYD QASWESEDVE
IQDYDLFKQS YWNHRELMRG EEGRPGKKLK KVKLRKLERP PETPTVDPTV KYERQPEYLD
ATGGTLHPYQ MEGLNWLRFS WAQGTDTILA DEMGLGKTVQ TAVFLYSLYK EGHSKGPFLV
SAPLSTIINW EREFEMWAPD MYVVTYVGDK DSRAIIRENE FSFEDNAIRG GKKASRMKKE
ASVKFHVLLT SYELITIDMA ILGSIDWACL IVDEAHRLKN NQSKFFRVLN GYSLQHKLLL
TGTPLQNNLE ELFHLLNFLT PERFHNLEGF LEEFADIAKE DQIKKLHDML GPHMLRRLKA
DVFKNMPSKT ELIVRVELSP MQKKYYKYIL TRNFEALNAR GGGNQVSLLN VVMDLKKCCN
HPYLFPVAAM EAPKMPNGMY DGSALIRASG KLLLLQKMLK NLKEGGHRVL IFSQMTKMLD
LLEDFLEHEG YKYERIDGGI TGNMRQEAID RFNAPGAQQF CFLLSTRAGG LGINLATADT
VIIYDSDWNP HNDIQAFSRA HRIGQNKKVM IYRFVTRASV EERITQVAKK KMMLTHLVVR
PGLGSKTGSM SKQELDDILK FGTEELFKDE ATDGGGDNKE GEDSSVIHYD DKAIERLLDR
NQDETEDTEL QGMNEYLSSF KVAQYVVREE EMGEEEEVER EIIKQEESVD PDYWEKLLRH
HYEQQQEDLA RNLGKGKRIR KQVNYNDGSQ EDRGVCGRPR PPPMGRSTRA VGPAHLPSLP
PDWQDDQSDN QSDYSVASEE GDEDFDERSE APRRPSRKGL RNDKDKPLPP LLARVGGNIE
VLGFNARQRK AFLNAIMRYG MPPQDAFTTQ WLVRDLRGKS EKEFKAYVSL FMRHLCEPGA
DGAETFADGV PREGLSRQHV LTRIGVMSLI RKKVQEFEHV NGRWSMPELA EVEENKKMSQ
PGSPSPKTPT PSTPGDTQPN TPAPVPPAED GIKIEENSLK EEESIEGEKE VKSTAPETAI
ECTQAPAPAS EDEKVVVEPP EGEEKVEKAE VKERTEEPME TEPKGAADVE KVEEKSAIDL
TPIVVEDKEE KKEEEEKKEV MLQNGETPKD LNDEKQKKNI KQRFMFNIAD GGFTELHSLW
QNEERAATVT KKTYEIWHRR HDYWLLAGII NHGYARWQDI QNDPRYAILN EPFKGEMNRG
NFLEIKNKFL ARRFKLLEQA LVIEEQLRRA AYLNMSEDPS HPSMALNTRF AEVECLAESH
QHLSKESMAG NKPANAVLHK VLKQLEELLS DMKADVTRLP ATIARIPPVA VRLQMSERNI
LSRLANRAPE PTPQQVAQQQ *
mutated AA sequence MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKERMLLCR QLGDSSGEGP EFVEEEEEVA LRSDSEGSDY TPGKKKKKKL
GPKKEKKSKS KRKEEEEEDD DDDDSKEPKS SAQLLEDWGM EDIDHVFSEE DYRTLTNYKA
FSQFVRPLIA AKNPKIAVSK MMMVLGAKWR EFSTNNPFKG SSGASVAAAA AAAVAVVESM
VTATEVAPPP PPVEVPIRKA KTKEGKGPNA RRKPKGSPRV PDAKKPKPKK VAPLKIKLGG
FGSKRKRSSS EDDDLDVESD FDDASINSYS VSDGSTSRSS RSRKKLRTTK KKKKGEEEVT
AVDGYETDHQ DYCEVCQQGG EIILCDTCPR AYHMVCLDPD MEKAPEGKWS CPHCEKEGIQ
WEAKEDNSEG EEILEEVGGD LEEEDDHHME FCRVCKDGGE LLCCDTCPSS YHIHCLNPPL
PEIPNGEWLC PRCTCPALKG KVQKILIWKW GQPPSPTPVP RPPDADPNTP SPKPLEGRPE
RQFFVKWQGM SYWHCSWVSE LQLELHCQVM FRNYQRKNDM DEPPSGDFGG DEEKSRKRKN
KDPKFAEMEE RFYRYGIKPE WMMIHRILNH SVDKKGHVHY LIKWRDLPYD QASWESEDVE
IQDYDLFKQS YWNHRELMRG EEGRPGKKLK KVKLRKLERP PETPTVDPTV KYERQPEYLD
ATGGTLHPYQ MEGLNWLRFS WAQGTDTILA DEMGLGKTVQ TAVFLYSLYK EGHSKGPFLV
SAPLSTIINW EREFEMWAPD MYVVTYVGDK DSRAIIRENE FSFEDNAIRG GKKASRMKKE
ASVKFHVLLT SYELITIDMA ILGSIDWACL IVDEAHRLKN NQSKFFRVLN GYSLQHKLLL
TGTPLQNNLE ELFHLLNFLT PERFHNLEGF LEEFADIAKE DQIKKLHDML GPHMLRRLKA
DVFKNMPSKT ELIVRVELSP MQKKYYKYIL TRNFEALNAR GGGNQVSLLN VVMDLKKCCN
HPYLFPVAAM EAPKMPNGMY DGSALIRASG KLLLLQKMLK NLKEGGHRVL IFSQMTKMLD
LLEDFLEHEG YKYERIDGGI TGNMRQEAID RFNAPGAQQF CFLLSTRAGG LGINLATADT
VIIYDSDWNP HNDIQAFSRA HRIGQNKKVM IYRFVTRASV EERITQVAKK KMMLTHLVVR
PGLGSKTGSM SKQELDDILK FGTEELFKDE ATDGGGDNKE GEDSSVIHYD DKAIERLLDR
NQDETEDTEL QGMNEYLSSF KVAQYVVREE EMGEEEEVER EIIKQEESVD PDYWEKLLRH
HYEQQQEDLA RNLGKGKRIR KQVNYNDGSQ EDRGVCGRPR PPPMGRSTRA VGPAHLPSLP
PDWQDDQSDN QSDYSVASEE GDEDFDERSE APRRPSRKGL RNDKDKPLPP LLARVGGNIE
VLGFNARQRK AFLNAIMRYG MPPQDAFTTQ WLVRDLRGKS EKEFKAYVSL FMRHLCEPGA
DGAETFADGV PREGLSRQHV LTRIGVMSLI RKKVQEFEHV NGRWSMPELA EVEENKKMSQ
PGSPSPKTPT PSTPGDTQPN TPAPVPPAED GIKIEENSLK EEESIEGEKE VKSTAPETAI
ECTQAPAPAS EDEKVVVEPP EGEEKVEKAE VKERTEEPME TEPKGAADVE KVEEKSAIDL
TPIVVEDKEE KKEEEEKKEV MLQNGETPKD LNDEKQKKNI KQRFMFNIAD GGFTELHSLW
QNEERAATVT KKTYEIWHRR HDYWLLAGII NHGYARWQDI QNDPRYAILN EPFKGEMNRG
NFLEIKNKFL ARRFKLLEQA LVIEEQLRRA AYLNMSEDPS HPSMALNTRF AEVECLAESH
QHLSKESMAG NKPANAVLHK VLKQLEELLS DMKADVTRLP ATIARIPPVA VRLQMSERNI
LSRLANRAPE PTPQQVAQQQ *
speed 0.55 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