Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999614 (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) chr12:14577892A>TN/A show variant in all transcripts   IGV
HGNC symbol ATF7IP
Ensembl transcript ID ENST00000544627
Genbank transcript ID N/A
UniProt peptide Q6VMQ6
alteration type single base exchange
alteration region CDS
DNA changes c.1067A>T
cDNA.1387A>T
g.59283A>T
AA changes N356I Score: 149 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 356
frameshift no
known variant Reference ID: rs2231909
databasehomozygous (T/T)heterozygousallele carriers
1000G3059991304
ExAC93031416123464
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2120.001
0.0380.008
(flanking)-0.0770.039
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 516
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      356EKNKADNNIDANEETLETDDTTIC
mutated  not conserved    356EKNKADNNIDAIEETL
Ptroglodytes  all identical  ENSPTRG00000004719  348EKNKTDNNIDANEETLETDDTTI
Mmulatta  all identical  ENSMMUG00000003664  356EKNKADNNIDANEETL
Fcatus  all conserved  ENSFCAG00000010546  321EKNKADSNVDGDEETLETDDTVI
Mmusculus  not conserved  ENSMUSG00000030213  386EGNKVNSNVVEKEEPLETHSAII
Ggallus  not conserved  ENSGALG00000011814  166ENKSNCDNSFSPEEKGKTNDITI
Trubripes  no alignment  ENSTRUG00000000026  n/a
Drerio  no alignment  ENSDARG00000069619  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031812  331EKSE---NVETTAENIETP----
protein features
start (aa)end (aa)featuredetails 
349580COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3837 / 3837
position (AA) of stopcodon in wt / mu AA sequence 1279 / 1279
position of stopcodon in wt / mu cDNA 4157 / 4157
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 321 / 321
chromosome 12
strand 1
last intron/exon boundary 3738
theoretical NMD boundary in CDS 3367
length of CDS 3837
coding sequence (CDS) position 1067
cDNA position
(for ins/del: last normal base / first normal base)		 1387
gDNA position
(for ins/del: last normal base / first normal base)		 59283
chromosomal position
(for ins/del: last normal base / first normal base)		 14577892
original gDNA sequence snippet TGATAATAATATTGATGCTAATGAAGAAACTCTAGAAACAG
altered gDNA sequence snippet TGATAATAATATTGATGCTATTGAAGAAACTCTAGAAACAG
original cDNA sequence snippet TGATAATAATATTGATGCTAATGAAGAAACTCTAGAAACAG
altered cDNA sequence snippet TGATAATAATATTGATGCTATTGAAGAAACTCTAGAAACAG
wildtype AA sequence MHQDQRFRMD SLEEPQKKVF KARKTMRVSD RQQLEAVYKV KEELLKTDVK LLNGNHENGD
LDPTSPLENM DYIKDKEEVN GIEEICFDPE GSKAEWKETP CILSVNVKNK QDDDLNCEPL
SPHNITPEPV SKLPAEPVSG DPAPGDLDAG DPASGVLASG DSTSGDPTSS EPSSSDAASG
DATSGDAPSG DVSPGDATSG DATADDLSSG DPTSSDPIPG EPVPVEPISG DCAADDIASS
EITSVDLASG APASTDPASD DLASGDLSSS ELASDDLATG ELASDELTSE STFDRTFEPK
SVPVCEPVPE IDNIEPSSNK DDDFLEKNGA DEKLEQIQSK DSLDEKNKAD NNIDANEETL
ETDDTTICSD RPPENEKKVE EDIITELALG EDAISSSMEI DQGEKNEDET SADLVETINE
NVIEDNKSEN ILENTDSMET DEIIPILEKL APSEDELTCF SKTSLLPIDE TNPDLEEKME
SSFGSPSKQE SSESLPKEAF LVLSDEEDIS GEKDESEVIS QNETCSPAEV ESNEKDNKPE
EEEQVIHEDD ERPSEKNEFS RRKRSKSEDM DNVQSKRRRY MEEEYEAEFQ VKITAKGDIN
QKLQKVIQWL LEEKLCALQC AVFDKTLAEL KTRVEKIECN KRHKTVLTEL QAKIARLTKR
FEAAKEDLKK RHEHPPNPPV SPGKTVNDVN SNNNMSYRNA GTVRQMLESK RNVSESAPPS
FQTPVNTVSS TNLVTPPAVV SSQPKLQTPV TSGSLTATSV LPAPNTATVV ATTQVPSGNP
QPTISLQPLP VILHVPVAVS SQPQLLQSHP GTLVTNQPSG NVEFISVQSP PTVSGLTKNP
VSLPSLPNPT KPNNVPSVPS PSIQRNPTAS AAPLGTTLAV QAVPTAHSIV QATRTSLPTV
GPSGLYSPST NRGPIQMKIP ISAFSTSSAA EQNSNTTPRI ENQTNKTIDA SVSKKAADST
SQCGKATGSD SSGVIDLTMD DEESGASQDP KKLNHTPVST MSSSQPVSRP LQPIQPAPPL
QPSGVPTSGP SQTTIHLLPT APTTVNVTHR PVTQVTTRLP VPRAPANHQV VYTTLPAPPA
QAPLRGTVMQ APAVRQVNPQ NSVTVRVPQT TTYVVNNGLT LGSTGPQLTV HHRPPQVHTE
PPRPVHPAPL PEAPQPQRLP PEAASTSLPQ KPHLKLARVQ SQNGIVLSWS VLEVDRSCAT
VDSYHLYAYH EEPSATVPSQ WKKIGEVKAL PLPMACTLTQ FVSGSKYYFA VRAKDIYGRF
GPFCDPQSTD VISSTQSS*
mutated AA sequence MHQDQRFRMD SLEEPQKKVF KARKTMRVSD RQQLEAVYKV KEELLKTDVK LLNGNHENGD
LDPTSPLENM DYIKDKEEVN GIEEICFDPE GSKAEWKETP CILSVNVKNK QDDDLNCEPL
SPHNITPEPV SKLPAEPVSG DPAPGDLDAG DPASGVLASG DSTSGDPTSS EPSSSDAASG
DATSGDAPSG DVSPGDATSG DATADDLSSG DPTSSDPIPG EPVPVEPISG DCAADDIASS
EITSVDLASG APASTDPASD DLASGDLSSS ELASDDLATG ELASDELTSE STFDRTFEPK
SVPVCEPVPE IDNIEPSSNK DDDFLEKNGA DEKLEQIQSK DSLDEKNKAD NNIDAIEETL
ETDDTTICSD RPPENEKKVE EDIITELALG EDAISSSMEI DQGEKNEDET SADLVETINE
NVIEDNKSEN ILENTDSMET DEIIPILEKL APSEDELTCF SKTSLLPIDE TNPDLEEKME
SSFGSPSKQE SSESLPKEAF LVLSDEEDIS GEKDESEVIS QNETCSPAEV ESNEKDNKPE
EEEQVIHEDD ERPSEKNEFS RRKRSKSEDM DNVQSKRRRY MEEEYEAEFQ VKITAKGDIN
QKLQKVIQWL LEEKLCALQC AVFDKTLAEL KTRVEKIECN KRHKTVLTEL QAKIARLTKR
FEAAKEDLKK RHEHPPNPPV SPGKTVNDVN SNNNMSYRNA GTVRQMLESK RNVSESAPPS
FQTPVNTVSS TNLVTPPAVV SSQPKLQTPV TSGSLTATSV LPAPNTATVV ATTQVPSGNP
QPTISLQPLP VILHVPVAVS SQPQLLQSHP GTLVTNQPSG NVEFISVQSP PTVSGLTKNP
VSLPSLPNPT KPNNVPSVPS PSIQRNPTAS AAPLGTTLAV QAVPTAHSIV QATRTSLPTV
GPSGLYSPST NRGPIQMKIP ISAFSTSSAA EQNSNTTPRI ENQTNKTIDA SVSKKAADST
SQCGKATGSD SSGVIDLTMD DEESGASQDP KKLNHTPVST MSSSQPVSRP LQPIQPAPPL
QPSGVPTSGP SQTTIHLLPT APTTVNVTHR PVTQVTTRLP VPRAPANHQV VYTTLPAPPA
QAPLRGTVMQ APAVRQVNPQ NSVTVRVPQT TTYVVNNGLT LGSTGPQLTV HHRPPQVHTE
PPRPVHPAPL PEAPQPQRLP PEAASTSLPQ KPHLKLARVQ SQNGIVLSWS VLEVDRSCAT
VDSYHLYAYH EEPSATVPSQ WKKIGEVKAL PLPMACTLTQ FVSGSKYYFA VRAKDIYGRF
GPFCDPQSTD VISSTQSS*
speed 1.25 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