Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999907502233583 (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) chr6:159655084C>GN/A show variant in all transcripts   IGV
HGNC symbol FNDC1
Ensembl transcript ID ENST00000340366
Genbank transcript ID N/A
UniProt peptide Q4ZHG4
alteration type single base exchange
alteration region CDS
DNA changes c.3351C>G
cDNA.3551C>G
g.64656C>G
AA changes D1117E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1117
frameshift no
known variant Reference ID: rs420054
databasehomozygous (G/G)heterozygousallele carriers
1000G15777642341
ExAC---
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8770.996
0.170.996
(flanking)1.9440.982
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased64648wt: 0.21 / mu: 0.25wt: CCCAGCAGTCGGTCTCAGCCGAGGACGACGAGGAGGAGGAC
mu: CCCAGCAGTCGGTCTCAGCCGAGGACGAGGAGGAGGAGGAC		 gccg|AGGA
Donor gained646500.93mu: GCCGAGGACGAGGAG CGAG|gacg
distance from splice site 428
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1117SKSQQSVSAEDDEEEDAGFFKGGK
mutated  all conserved    1117SKSQQSVSAEDEEEEDAGFFKGG
Ptroglodytes  all conserved  ENSPTRG00000018754  1180SKSQQSVSAEDEEEEDAGFFKGG
Mmulatta  all conserved  ENSMMUG00000000500  1127SKSQQSVSAEDEEEEDAGFFKGG
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000071984  1023-EEEENEGILK-G
Ggallus  all identical  ENSGALG00000011663  735SSSKSRQSVSDEEDDY-NSEYDQKE
Trubripes  all conserved  ENSTRUG00000004949  842STGNAEKTNKVSNPVSAVKNPSLTSAEPRKN
Drerio  all identical  ENSDARG00000002847  916NKPSLLNVKSSNDHEDDY-LYEGS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
12951295CONFLICTM -> K (in Ref. 6; CAE51894).might get lost (downstream of altered splice site)
14431516COMPBIASThr-rich.might get lost (downstream of altered splice site)
14871487CONFLICTP -> S (in Ref. 6; CAE51894).might get lost (downstream of altered splice site)
16551749DOMAINFibronectin type-III 5.might get lost (downstream of altered splice site)
16611661CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16851685CONFLICTD -> N (in Ref. 6; CAE51894).might get lost (downstream of altered splice site)
18941894CONFLICTW -> G (in Ref. 6; CAE51894).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5496 / 5496
position (AA) of stopcodon in wt / mu AA sequence 1832 / 1832
position of stopcodon in wt / mu cDNA 5696 / 5696
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 201 / 201
chromosome 6
strand 1
last intron/exon boundary 5581
theoretical NMD boundary in CDS 5330
length of CDS 5496
coding sequence (CDS) position 3351
cDNA position
(for ins/del: last normal base / first normal base)		 3551
gDNA position
(for ins/del: last normal base / first normal base)		 64656
chromosomal position
(for ins/del: last normal base / first normal base)		 159655084
original gDNA sequence snippet TCGGTCTCAGCCGAGGACGACGAGGAGGAGGACGCGGGATT
altered gDNA sequence snippet TCGGTCTCAGCCGAGGACGAGGAGGAGGAGGACGCGGGATT
original cDNA sequence snippet TCGGTCTCAGCCGAGGACGACGAGGAGGAGGACGCGGGATT
altered cDNA sequence snippet TCGGTCTCAGCCGAGGACGAGGAGGAGGAGGACGCGGGATT
wildtype AA sequence MAPEAGATLR APRRLSWAAL LLLAALLPVA SSAAASVDHP LKPRHVKLLS TKMGLKVTWD
PPKDATSRPV EHYNIAYGKS LKSLKYIKVN AETYSFLIED VEPGVVYFVL LTAENHSGVS
RPVYRAESPP GGEWIEIDGF PIKGPGPFNE TVTEKEVPNK PLRVRVRSSD DRLSVAWKAP
RLSGAKSPRR SRGFLLGYGE SGRKMNYVPL TRDERTHEIK KLASESVYVV SLQSMNSQGR
SQPVYRAALT KRKISEEDEL DVPDDISVRV MSSQSVLVSW VDPVLEKQKK VVASRQYTVR
YREKGELARW DYKQIANRRV LIENLIPDTV YEFAVRISQG ERDGKWSTSV FQRTPESAPT
TAPENLNVWP VNGKPTVVAA SWDALPETEG KVKASKADVE QNTEDNGKPE KPEPSSPSPR
APASSQHPSV PASPQGRNAK DLLLDLKNKI LANGGAPRKP QLRAKKAEEL DLQSTEITGE
EELGSREDSP MSPSDTQDQK RTLRPPSRHG HSVVAPGRTA VRARMPALPR REGVDKPGFS
LATQPRPGAP PSASASPAHH ASTQGTSHRP SLPASLNDND LVDSDEDERA VGSLHPKGAF
AQPRPALSPS RQSPSSVLRD RSSVHPGAKP ASPARRTPHS GAAEEDSSAS APPSRLSPPH
GGSSRLLPTQ PHLSSPLSKG GKDGEDAPAT NSNAPSRSTM SSSVSSHLSS RTQVSEGAEA
SDGESHGDGD REDGGRQAEA TAQTLRARPA SGHFHLLRHK PFAANGRSPS RFSIGRGPRL
QPSSSPQSTV PSRAHPRVPS HSDSHPKLSS GIHGDEEDEK PLPATVVNDH VPSSSRQPIS
RGWEDLRRSP QRGASLHRKE PIPENPKSTG ADTHPQGKYS SLASKAQDVQ QSTDADTEGH
SPKAQPGSTD RHASPARPPA ARSQQHPSVP RRMTPGRAPQ QQPPPPVATS QHHPGPQSRD
AGRSPSQPRL SLTQAGRPRP TSQGRSHSSS DPYTASSRGM LPTALQNQDE DAQGSYDDDS
TEVEAQDVRA PAHAARAKEA AASLPKHQQV ESPTGAGAGG DHRSQRGHAA SPARPSRPGG
PQSRARVPSR AAPGKSEPPS KRPLSSKSQQ SVSAEDDEEE DAGFFKGGKE DLLSSSVPKW
PSSSTPRGGK DADGSLAKEE REPAIALAPR GGSLAPVKRP LPPPPGSSPR ASHVPSRLPP
RSAATVSPVA GTHPWPQYTT RAPPGHFSTT PMLSLRQRMM HARFRNPLSR QPARPSYRQG
YNGRPNVEGK VLPGSNGKPN GQRIINGPQG TKWVVDLDRG LVLNAEGRYL QDSHGNPLRI
KLGGDGRTIV DLEGTPVVSP DGLPLFGQGR HGTPLANAQD KPILSLGGKP LVGLEVIKKT
THPPTTTMQP TTTTTPLPTT TTPRPTTATT RRTTTTRRTT TRRPTTTVRT TTRTTTTTTP
TPTTPIPTCP PGTLERHDDD GNLIMSSNGI PECYAEEDEF SGLETDTAVP TEEAYVIYDE
DYEFETSRPP TTTEPSTTAT TPRVIPEEGA ISSFPEEEFD LAGRKRFVAP YVTYLNKDPS
APCSLTDALD HFQVDSLDEI IPNDLKKSDL PPQHAPRNIT VVAVEGCHSF VIVDWDKATP
GDVVTGYLVY SASYEDFIRN KWSTQASSVT HLPIENLKPN TRYYFKVQAQ NPHGYGPISP
SVSFVTESDN PLLVVRPPGG EPIWIPFAFK HDPSYTDCHG RQYVKRTWYR KFVGVVLCNS
LRYKIYLSDN LKDTFYSIGD SWGRGEDHCQ FVDSHLDGRT GPQSYVEALP TIQGYYRQYR
QEPVRFGNIG FGTPYYYVGW YECGVSIPGK W*
mutated AA sequence MAPEAGATLR APRRLSWAAL LLLAALLPVA SSAAASVDHP LKPRHVKLLS TKMGLKVTWD
PPKDATSRPV EHYNIAYGKS LKSLKYIKVN AETYSFLIED VEPGVVYFVL LTAENHSGVS
RPVYRAESPP GGEWIEIDGF PIKGPGPFNE TVTEKEVPNK PLRVRVRSSD DRLSVAWKAP
RLSGAKSPRR SRGFLLGYGE SGRKMNYVPL TRDERTHEIK KLASESVYVV SLQSMNSQGR
SQPVYRAALT KRKISEEDEL DVPDDISVRV MSSQSVLVSW VDPVLEKQKK VVASRQYTVR
YREKGELARW DYKQIANRRV LIENLIPDTV YEFAVRISQG ERDGKWSTSV FQRTPESAPT
TAPENLNVWP VNGKPTVVAA SWDALPETEG KVKASKADVE QNTEDNGKPE KPEPSSPSPR
APASSQHPSV PASPQGRNAK DLLLDLKNKI LANGGAPRKP QLRAKKAEEL DLQSTEITGE
EELGSREDSP MSPSDTQDQK RTLRPPSRHG HSVVAPGRTA VRARMPALPR REGVDKPGFS
LATQPRPGAP PSASASPAHH ASTQGTSHRP SLPASLNDND LVDSDEDERA VGSLHPKGAF
AQPRPALSPS RQSPSSVLRD RSSVHPGAKP ASPARRTPHS GAAEEDSSAS APPSRLSPPH
GGSSRLLPTQ PHLSSPLSKG GKDGEDAPAT NSNAPSRSTM SSSVSSHLSS RTQVSEGAEA
SDGESHGDGD REDGGRQAEA TAQTLRARPA SGHFHLLRHK PFAANGRSPS RFSIGRGPRL
QPSSSPQSTV PSRAHPRVPS HSDSHPKLSS GIHGDEEDEK PLPATVVNDH VPSSSRQPIS
RGWEDLRRSP QRGASLHRKE PIPENPKSTG ADTHPQGKYS SLASKAQDVQ QSTDADTEGH
SPKAQPGSTD RHASPARPPA ARSQQHPSVP RRMTPGRAPQ QQPPPPVATS QHHPGPQSRD
AGRSPSQPRL SLTQAGRPRP TSQGRSHSSS DPYTASSRGM LPTALQNQDE DAQGSYDDDS
TEVEAQDVRA PAHAARAKEA AASLPKHQQV ESPTGAGAGG DHRSQRGHAA SPARPSRPGG
PQSRARVPSR AAPGKSEPPS KRPLSSKSQQ SVSAEDEEEE DAGFFKGGKE DLLSSSVPKW
PSSSTPRGGK DADGSLAKEE REPAIALAPR GGSLAPVKRP LPPPPGSSPR ASHVPSRLPP
RSAATVSPVA GTHPWPQYTT RAPPGHFSTT PMLSLRQRMM HARFRNPLSR QPARPSYRQG
YNGRPNVEGK VLPGSNGKPN GQRIINGPQG TKWVVDLDRG LVLNAEGRYL QDSHGNPLRI
KLGGDGRTIV DLEGTPVVSP DGLPLFGQGR HGTPLANAQD KPILSLGGKP LVGLEVIKKT
THPPTTTMQP TTTTTPLPTT TTPRPTTATT RRTTTTRRTT TRRPTTTVRT TTRTTTTTTP
TPTTPIPTCP PGTLERHDDD GNLIMSSNGI PECYAEEDEF SGLETDTAVP TEEAYVIYDE
DYEFETSRPP TTTEPSTTAT TPRVIPEEGA ISSFPEEEFD LAGRKRFVAP YVTYLNKDPS
APCSLTDALD HFQVDSLDEI IPNDLKKSDL PPQHAPRNIT VVAVEGCHSF VIVDWDKATP
GDVVTGYLVY SASYEDFIRN KWSTQASSVT HLPIENLKPN TRYYFKVQAQ NPHGYGPISP
SVSFVTESDN PLLVVRPPGG EPIWIPFAFK HDPSYTDCHG RQYVKRTWYR KFVGVVLCNS
LRYKIYLSDN LKDTFYSIGD SWGRGEDHCQ FVDSHLDGRT GPQSYVEALP TIQGYYRQYR
QEPVRFGNIG FGTPYYYVGW YECGVSIPGK W*
speed 0.85 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