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 ENST00000409451
Genbank transcript ID NM_001103147
UniProt peptide Q6Y7W6
alteration type single base exchange
alteration region CDS
DNA changes c.1881C>G
cDNA.2107C>G
g.112433C>G
AA changes D627E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 627
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      627GPAPPPHMGELDQERLTRQQELTA
mutated  all conserved    627GPAPPPHMGELEQERLTRQQELT
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  626GPAPPPLQGDGDQERLKRQQ
Drerio  all identical  ENSDARG00000009735  629GPTLPPILGDADQERMKRQQEIN
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 3963 / 3963
position (AA) of stopcodon in wt / mu AA sequence 1321 / 1321
position of stopcodon in wt / mu cDNA 4189 / 4189
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 227 / 227
chromosome 2
strand 1
last intron/exon boundary 4122
theoretical NMD boundary in CDS 3845
length of CDS 3963
coding sequence (CDS) position 1881
cDNA position
(for ins/del: last normal base / first normal base)		 2107
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 TDRVGVASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE
PKTEQTEKAE EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS
PTLRPVETPV VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH
RAKGVSIPLM HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP
LGDIMKMWGR VPFSPGPAPP PHMGELDQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV
LAQQQKAALS SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS
QPTVWEGGSV WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE
ELRRQQEEIL RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA
LRRLEERRRE EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE
EERKRKELEV QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ
SQATLSLAEI QKLEEERERQ LREEQRRQQR ELMKALQQQQ QQQQQKLSGW GNVSKPSGTT
KSLLEIQQEE ARQMQKQQQQ QQQHQQPNRA RNNTHSNLHT SIGNSVWGSI NTGPPNQWAS
DLVSSIWSNA DTKNSNMGFW DDAVKEVGPR NSTNKNKNNA SLSKSVGVSN RQNKKVEEEE
KLLKLFQGVN KAQDGFTQWC EQMLHALNTA NNLDVPTFVS FLKEVESPYE VHDYIRAYLG
DTSEAKEFAK QFLERRAKQK ANQQRQQQQL PQQQQQQPPQ QPPQQPQQQD SVWGMNHSTL
HSVFQTNQSN NQQSNFEAVQ SGKKKKKQKM VRADPSLLGF SVNASSERLN MGEIETLDDY
*
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 TDRVGVASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE
PKTEQTEKAE EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS
PTLRPVETPV VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH
RAKGVSIPLM HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP
LGDIMKMWGR VPFSPGPAPP PHMGELEQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV
LAQQQKAALS SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS
QPTVWEGGSV WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE
ELRRQQEEIL RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA
LRRLEERRRE EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE
EERKRKELEV QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ
SQATLSLAEI QKLEEERERQ LREEQRRQQR ELMKALQQQQ QQQQQKLSGW GNVSKPSGTT
KSLLEIQQEE ARQMQKQQQQ QQQHQQPNRA RNNTHSNLHT SIGNSVWGSI NTGPPNQWAS
DLVSSIWSNA DTKNSNMGFW DDAVKEVGPR NSTNKNKNNA SLSKSVGVSN RQNKKVEEEE
KLLKLFQGVN KAQDGFTQWC EQMLHALNTA NNLDVPTFVS FLKEVESPYE VHDYIRAYLG
DTSEAKEFAK QFLERRAKQK ANQQRQQQQL PQQQQQQPPQ QPPQQPQQQD SVWGMNHSTL
HSVFQTNQSN NQQSNFEAVQ SGKKKKKQKM VRADPSLLGF SVNASSERLN MGEIETLDDY
*
speed 1.22 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