Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999942217744155      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM081291)
  • protein features (might be) affected
  • splice site changes
 hyperlink
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 ENST00000409196
Genbank transcript ID NM_001103148
UniProt peptide Q6Y7W6
alteration type single base exchange
alteration region CDS
DNA changes c.1800C>G
cDNA.1898C>G
g.112433C>G
AA changes D600E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 600
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      600GPAPPPHMGELDQERLTRQQELTA
mutated  all conserved    600GPAPPPHMGELEQERLTRQQELT
Ptroglodytes  all identical  ENSPTRG00000028976  627GPAPPPHMGELDQERLTRQQELT
Mmulatta  all identical  ENSMMUG00000012211  641GPAPPPHMGELDQERLTRQQELT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000048000  607PHMGELDQERLTRQQELT
Ggallus  all identical  ENSGALG00000001482  286GPTPLPHLGELDQERLTRQQEL-
Trubripes  all identical  ENSTRUG00000008935  626GPAPPPLQGDGDQERLKRQQ-LT
Drerio  all identical  ENSDARG00000009735  629GPTLPPILGDADQERMKRQQEI
Dmelanogaster  not conserved  FBgn0039936  639SPIELENIPVGQIPAP-LTASLSIT
Celegans  all conserved  C18H9.3  450NPLYPAAFGGVNM--WSSMGQPT
Xtropicalis  all conserved  ENSXETG00000013890  545TPNPWAGLPNFNPR
protein features
start (aa)end (aa)featuredetails 
6071025COMPBIASGln-rich.might get lost (downstream of altered splice site)
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 3882 / 3882
position (AA) of stopcodon in wt / mu AA sequence 1294 / 1294
position of stopcodon in wt / mu cDNA 3980 / 3980
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 99 / 99
chromosome 2
strand 1
last intron/exon boundary 3913
theoretical NMD boundary in CDS 3764
length of CDS 3882
coding sequence (CDS) position 1800
cDNA position
(for ins/del: last normal base / first normal base)		 1898
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 KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPGWR
EHMERRRRFE FDFRDRDDER GYRRVRSGSG SIDDDRDSLP EWCLEDAEEE MGTFDSSGAF
LSLKKVQKEP IPEEQEMDFR PVDEGEECSD SEGSHNEEAK EPDKTNKKEG EKTDRVGVEA
SEETPQTSSS SARPGTPSDH QSQEASQFER KDEPKTEQTE KAEEETRMEN SLPAKVPSRG
DEMVADVQQP LSQIPSDTAS PLLILPPPVP NPSPTLRPVE TPVVGAPGMG SVSTEPDDEE
GLKHLEQQAE KMVAYLQDSA LDDERLASKL QEHRAKGVSI PLMHEAMQKW YYKDPQGEIQ
GPFNNQEMAE WFQAGYFTMS LLVKRACDES FQPLGDIMKM WGRVPFSPGP APPPHMGELD
QERLTRQQEL TALYQMQHLQ YQQFLIQQQY AQVLAQQQKA ALSSQQQQQL ALLLQQFQTL
KMRISDQNII PSVTRSVSVP DTGSIWELQP TASQPTVWEG GSVWDLPLDT TTPGPALEQL
QQLEKAKAAK LEQERREAEM RAKREEEERK RQEELRRQQE EILRRQQEEE RKRREEEELA
RRKQEEALRR QREQEIALRR QREEEERQQQ EEALRRLEER RREEEERRKQ EELLRKQEEE
AAKWAREEEE AQRRLEENRL RMEEEAARLR HEEEERKRKE LEVQRQKELM RQRQQQQEAL
RRLQQQQQQQ QLAQMKLPSS STWGQQSNTT ACQSQATLSL AEIQKLEEER ERQLREEQRR
QQRELMKALQ QQQQQQQQKL SGWGNVSKPS GTTKSLLEIQ QEEARQMQKQ QQQQQQHQQP
NRARNNTHSN LHTSIGNSVW GSINTGPPNQ WASDLVSSIW SNADTKNSNM GFWDDAVKEV
GPRNSTNKNK NNASLSKSVG VSNRQNKKVE EEEKLLKLFQ GVNKAQDGFT QWCEQMLHAL
NTANNLDVPT FVSFLKEVES PYEVHDYIRA YLGDTSEAKE FAKQFLERRA KQKANQQRQQ
QQLPQQQQQQ PPQQPPQQPQ QQDSVWGMNH STLHSVFQTN QSNNQQSNFE AVQSGKKKKK
QKMVRADPSL LGFSVNASSE RLNMGEIETL DDY*
mutated AA sequence MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPGWR
EHMERRRRFE FDFRDRDDER GYRRVRSGSG SIDDDRDSLP EWCLEDAEEE MGTFDSSGAF
LSLKKVQKEP IPEEQEMDFR PVDEGEECSD SEGSHNEEAK EPDKTNKKEG EKTDRVGVEA
SEETPQTSSS SARPGTPSDH QSQEASQFER KDEPKTEQTE KAEEETRMEN SLPAKVPSRG
DEMVADVQQP LSQIPSDTAS PLLILPPPVP NPSPTLRPVE TPVVGAPGMG SVSTEPDDEE
GLKHLEQQAE KMVAYLQDSA LDDERLASKL QEHRAKGVSI PLMHEAMQKW YYKDPQGEIQ
GPFNNQEMAE WFQAGYFTMS LLVKRACDES FQPLGDIMKM WGRVPFSPGP APPPHMGELE
QERLTRQQEL TALYQMQHLQ YQQFLIQQQY AQVLAQQQKA ALSSQQQQQL ALLLQQFQTL
KMRISDQNII PSVTRSVSVP DTGSIWELQP TASQPTVWEG GSVWDLPLDT TTPGPALEQL
QQLEKAKAAK LEQERREAEM RAKREEEERK RQEELRRQQE EILRRQQEEE RKRREEEELA
RRKQEEALRR QREQEIALRR QREEEERQQQ EEALRRLEER RREEEERRKQ EELLRKQEEE
AAKWAREEEE AQRRLEENRL RMEEEAARLR HEEEERKRKE LEVQRQKELM RQRQQQQEAL
RRLQQQQQQQ QLAQMKLPSS STWGQQSNTT ACQSQATLSL AEIQKLEEER ERQLREEQRR
QQRELMKALQ QQQQQQQQKL SGWGNVSKPS GTTKSLLEIQ QEEARQMQKQ QQQQQQHQQP
NRARNNTHSN LHTSIGNSVW GSINTGPPNQ WASDLVSSIW SNADTKNSNM GFWDDAVKEV
GPRNSTNKNK NNASLSKSVG VSNRQNKKVE EEEKLLKLFQ GVNKAQDGFT QWCEQMLHAL
NTANNLDVPT FVSFLKEVES PYEVHDYIRA YLGDTSEAKE FAKQFLERRA KQKANQQRQQ
QQLPQQQQQQ PPQQPPQQPQ QQDSVWGMNH STLHSVFQTN QSNNQQSNFE AVQSGKKKKK
QKMVRADPSL LGFSVNASSE RLNMGEIETL DDY*
speed 1.04 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