Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999768351562476      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM081291)
  • protein features (might be) affected
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:233674441C>GN/A show variant in all transcripts   IGV
HGNC symbol GIGYF2
Ensembl transcript ID ENST00000409480
Genbank transcript ID N/A
UniProt peptide Q6Y7W6
alteration type single base exchange
alteration region CDS
DNA changes c.1884C>G
cDNA.2146C>G
g.112433C>G
AA changes D628E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 628
frameshift no
known variant Reference ID: rs118203903
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM081291)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081291)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081291)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.921
1.3971
(flanking)5.9421
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased112430wt: 0.4044 / mu: 0.4218 (marginal change - not scored)wt: GAGCTGGACCAGGAA
mu: GAGCTGGAGCAGGAA		 GCTG|gacc
Donor gained1124270.55mu: GGAGAGCTGGAGCAG AGAG|ctgg
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      628GPAPPPHMGELDQERLTRQQELTA
mutated  all conserved    628GPAPPPHMGELEQERLTRQQELT
Ptroglodytes  all identical  ENSPTRG00000028976  627GPAPPPHMGELDQERLTRQQELT
Mmulatta  all identical  ENSMMUG00000012211  641GPAPPPHMGELDQERLTRQQELT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000048000  607GPAPPPHMGELDQERLTRQQELT
Ggallus  all identical  ENSGALG00000001482  286GPTPLPHLGELDQERLTRQQEL-
Trubripes  all identical  ENSTRUG00000008935  626GPAPPPLQGDGDQERLKR
Drerio  all identical  ENSDARG00000009735  629DQERMKRQQEIN
Dmelanogaster  not conserved  FBgn0039936  647GQIPAP-LTASLSIT
Celegans  all conserved  C18H9.3  450NPLYPAAFGGVNM--WSSMGQPT
Xtropicalis  all conserved  ENSXETG00000013890  545TPNPWAGLPNFNPR
protein features
start (aa)end (aa)featuredetails 
6071025COMPBIASGln-rich.lost
738888COMPBIASGlu-rich.might get lost (downstream of altered splice site)
792792CONFLICTE -> G (in Ref. 5; CAD98095).might get lost (downstream of altered splice site)
11531153CONFLICTD -> G (in Ref. 5; CAD98095).might get lost (downstream of altered splice site)
11981252COMPBIASGln-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3966 / 3966
position (AA) of stopcodon in wt / mu AA sequence 1322 / 1322
position of stopcodon in wt / mu cDNA 4228 / 4228
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 263 / 263
chromosome 2
strand 1
last intron/exon boundary 4161
theoretical NMD boundary in CDS 3848
length of CDS 3966
coding sequence (CDS) position 1884
cDNA position
(for ins/del: last normal base / first normal base)		 2146
gDNA position
(for ins/del: last normal base / first normal base)		 112433
chromosomal position
(for ins/del: last normal base / first normal base)		 233674441
original gDNA sequence snippet CATTCCTAGGGAGAGCTGGACCAGGAACGACTGACCAGGCA
altered gDNA sequence snippet CATTCCTAGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA
original cDNA sequence snippet CCTCATATGGGAGAGCTGGACCAGGAACGACTGACCAGGCA
altered cDNA sequence snippet CCTCATATGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA
wildtype AA sequence MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGKK
NGYYCMYSPV LLLGQPLCQG RPNFEEGGPT SVGRKHEFIR SESENWRIFR EEQNGEDEDG
GWRLAGSRRD GERWRPHSPD GPRSAGWREH MERRRRFEFD FRDRDDERGY RRVRSGSGSI
DDDRDSLPEW CLEDAEEEMG TFDSSGAFLS LKKVQKEPIP EEQEMDFRPV DEGEECSDSE
GSHNEEAKEP DKTNKKEGEK TDRVGVEASE ETPQTSSSSA RPGTPSDHQS QEASQFERKD
EPKTEQTEKA EEETRMENSL PAKVPSRGDE MVADVQQPLS QIPSDTASPL LILPPPVPNP
SPTLRPVETP VVGAPGMGSV STEPDDEEGL KHLEQQAEKM VAYLQDSALD DERLASKLQE
HRAKGVSIPL MHEAMQKWYY KDPQGEIQGP FNNQEMAEWF QAGYFTMSLL VKRACDESFQ
PLGDIMKMWG RVPFSPGPAP PPHMGELDQE RLTRQQELTA LYQMQHLQYQ QFLIQQQYAQ
VLAQQQKAAL SSQQQQQLAL LLQQFQTLKM RISDQNIIPS VTRSVSVPDT GSIWELQPTA
SQPTVWEGGS VWDLPLDTTT PGPALEQLQQ LEKAKAAKLE QERREAEMRA KREEEERKRQ
EELRRQQEEI LRRQQEEERK RREEEELARR KQEEALRRQR EQEIALRRQR EEEERQQQEE
ALRRLEERRR EEEERRKQEE LLRKQEEEAA KWAREEEEAQ RRLEENRLRM EEEAARLRHE
EEERKRKELE VQRQKELMRQ RQQQQEALRR LQQQQQQQQL AQMKLPSSST WGQQSNTTAC
QSQATLSLAE IQKLEEERER QLREEQRRQQ RELMKALQQQ QQQQQQKLSG WGNVSKPSGT
TKSLLEIQQE EARQMQKQQQ QQQQHQQPNR ARNNTHSNLH TSIGNSVWGS INTGPPNQWA
SDLVSSIWSN ADTKNSNMGF WDDAVKEVGP RNSTNKNKNN ASLSKSVGVS NRQNKKVEEE
EKLLKLFQGV NKAQDGFTQW CEQMLHALNT ANNLDVPTFV SFLKEVESPY EVHDYIRAYL
GDTSEAKEFA KQFLERRAKQ KANQQRQQQQ LPQQQQQQPP QQPPQQPQQQ DSVWGMNHST
LHSVFQTNQS NNQQSNFEAV QSGKKKKKQK MVRADPSLLG FSVNASSERL NMGEIETLDD
Y*
mutated AA sequence MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGKK
NGYYCMYSPV LLLGQPLCQG RPNFEEGGPT SVGRKHEFIR SESENWRIFR EEQNGEDEDG
GWRLAGSRRD GERWRPHSPD GPRSAGWREH MERRRRFEFD FRDRDDERGY RRVRSGSGSI
DDDRDSLPEW CLEDAEEEMG TFDSSGAFLS LKKVQKEPIP EEQEMDFRPV DEGEECSDSE
GSHNEEAKEP DKTNKKEGEK TDRVGVEASE ETPQTSSSSA RPGTPSDHQS QEASQFERKD
EPKTEQTEKA EEETRMENSL PAKVPSRGDE MVADVQQPLS QIPSDTASPL LILPPPVPNP
SPTLRPVETP VVGAPGMGSV STEPDDEEGL KHLEQQAEKM VAYLQDSALD DERLASKLQE
HRAKGVSIPL MHEAMQKWYY KDPQGEIQGP FNNQEMAEWF QAGYFTMSLL VKRACDESFQ
PLGDIMKMWG RVPFSPGPAP PPHMGELEQE RLTRQQELTA LYQMQHLQYQ QFLIQQQYAQ
VLAQQQKAAL SSQQQQQLAL LLQQFQTLKM RISDQNIIPS VTRSVSVPDT GSIWELQPTA
SQPTVWEGGS VWDLPLDTTT PGPALEQLQQ LEKAKAAKLE QERREAEMRA KREEEERKRQ
EELRRQQEEI LRRQQEEERK RREEEELARR KQEEALRRQR EQEIALRRQR EEEERQQQEE
ALRRLEERRR EEEERRKQEE LLRKQEEEAA KWAREEEEAQ RRLEENRLRM EEEAARLRHE
EEERKRKELE VQRQKELMRQ RQQQQEALRR LQQQQQQQQL AQMKLPSSST WGQQSNTTAC
QSQATLSLAE IQKLEEERER QLREEQRRQQ RELMKALQQQ QQQQQQKLSG WGNVSKPSGT
TKSLLEIQQE EARQMQKQQQ QQQQHQQPNR ARNNTHSNLH TSIGNSVWGS INTGPPNQWA
SDLVSSIWSN ADTKNSNMGF WDDAVKEVGP RNSTNKNKNN ASLSKSVGVS NRQNKKVEEE
EKLLKLFQGV NKAQDGFTQW CEQMLHALNT ANNLDVPTFV SFLKEVESPY EVHDYIRAYL
GDTSEAKEFA KQFLERRAKQ KANQQRQQQQ LPQQQQQQPP QQPPQQPQQQ DSVWGMNHST
LHSVFQTNQS NNQQSNFEAV QSGKKKKKQK MVRADPSLLG FSVNASSERL NMGEIETLDD
Y*
speed 1.02 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