Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998453 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
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 ENST00000536444
Genbank transcript ID N/A
UniProt peptide Q6VMQ6
alteration type single base exchange
alteration region CDS
DNA changes c.1043A>T
cDNA.1149A>T
g.59283A>T
AA changes N348I Score: 149 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 348
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      348EKNKADNNIDANEETLETDDTTIC
mutated  not conserved    348EKNKADNNIDAIEETLETDDTTI
Ptroglodytes  all identical  ENSPTRG00000004719  348EKNKTDNNIDANEETLETDDTTI
Mmulatta  all identical  ENSMMUG00000003664  356EKNKADNNIDANEETLETDDTTI
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 no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3810 / 3810
position (AA) of stopcodon in wt / mu AA sequence 1270 / 1270
position of stopcodon in wt / mu cDNA 3916 / 3916
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 107 / 107
chromosome 12
strand 1
last intron/exon boundary 3497
theoretical NMD boundary in CDS 3340
length of CDS 3810
coding sequence (CDS) position 1043
cDNA position
(for ins/del: last normal base / first normal base)		 1149
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 MDSLEEPQKK VFKARKTMRV SDRQQLEAVY KVKEELLKTD VKLLNGNHEN GDLDPTSPLE
NMDYIKDKEE VNGIEEICFD PEGSKAEWKE TPCILSVNVK NKQDDDLNCE PLSPHNITPE
PVSKLPAEPV SGDPAPGDLD AGDPASGVLA SGDSTSGDPT SSEPSSSDAA SGDATSGDAP
SGDVSPGDAT SGDATADDLS SGDPTSSDPI PGEPVPVEPI SGDCAADDIA SSEITSVDLA
SGAPASTDPA SDDLASGDLS SSELASDDLA TGELASDELT SESTFDRTFE PKSVPVCEPV
PEIDNIEPSS NKDDDFLEKN GADEKLEQIQ SKDSLDEKNK ADNNIDANEE TLETDDTTIC
SDRPPENEKK VEEDIITELA LGEDAISSSM EIDQGEKNED ETSADLVETI NENVIEDNKS
ENILENTDSM ETDEIIPILE KLAPSEDELT CFSKTSLLPI DETNPDLEEK MESSFGSPSK
QESSESLPKE AFLVLSDEED ISGEKDESEV ISQNETCSPE VESNEKDNKP EEEEQVIHED
DERPSEKNEF SRRKRSKSED MDNVQSKRRR YMEEEYEAEF QVKITAKGDI NQKLQKVIQW
LLEEKLCALQ CAVFDKTLAE LKTRVEKIEC NKRHKTVLTE LQAKIARLTK RFEAAKEDLK
KRHEHPPNPP VSPGKTVNDV NSNNNMSYRN AGTVRQMLES KRNVSESAPP SFQTPVNTVS
STNLVTPPAV VSSQPKLQTP VTSGSLTATS VLPAPNTATV VATTQVPSGN PQPTISLQPL
PVILHVPVAV SSQPQLLQSH PGTLVTNQPS GNVEFISVQS PPTVSGLTKN PVSLPSLPNP
TKPNNVPSVP SPSIQRNPTA SAAPLGTTLA VQAVPTAHSI VQATRTSLPT VGPSGLYSPS
TNRGPIQMKI PISAFSTSSA AEQNSNTTPR IENQTNKTID ASVSKKAADS TSQCGKATGS
DSSGVIDLTM DDEESGASQD PKKLNHTPVS TMSSSQPVSR PLQPIQPAPP LQPSGVPTSG
PSQTTIHLLP TAPTTVNVTH RPVTQVTTRL PVPRAPANHQ VVYTTLPAPP AQAPLRGTVM
QAPAVRQVNP QNSVTVRVPQ TTTYVVNNGL TLGSTGPQLT VHHRPPQVHT EPPRPVHPAP
LPEAPQPQRL PPEAASTSLP QKPHLKLARV QSQNGIVLSW SVLEVDRSCA TVDSYHLYAY
HEEPSATVPS QWKKIGEVKA LPLPMACTLT QFVSGSKYYF AVRAKDIYGR FGPFCDPQST
DVISSTQSS*
mutated AA sequence MDSLEEPQKK VFKARKTMRV SDRQQLEAVY KVKEELLKTD VKLLNGNHEN GDLDPTSPLE
NMDYIKDKEE VNGIEEICFD PEGSKAEWKE TPCILSVNVK NKQDDDLNCE PLSPHNITPE
PVSKLPAEPV SGDPAPGDLD AGDPASGVLA SGDSTSGDPT SSEPSSSDAA SGDATSGDAP
SGDVSPGDAT SGDATADDLS SGDPTSSDPI PGEPVPVEPI SGDCAADDIA SSEITSVDLA
SGAPASTDPA SDDLASGDLS SSELASDDLA TGELASDELT SESTFDRTFE PKSVPVCEPV
PEIDNIEPSS NKDDDFLEKN GADEKLEQIQ SKDSLDEKNK ADNNIDAIEE TLETDDTTIC
SDRPPENEKK VEEDIITELA LGEDAISSSM EIDQGEKNED ETSADLVETI NENVIEDNKS
ENILENTDSM ETDEIIPILE KLAPSEDELT CFSKTSLLPI DETNPDLEEK MESSFGSPSK
QESSESLPKE AFLVLSDEED ISGEKDESEV ISQNETCSPE VESNEKDNKP EEEEQVIHED
DERPSEKNEF SRRKRSKSED MDNVQSKRRR YMEEEYEAEF QVKITAKGDI NQKLQKVIQW
LLEEKLCALQ CAVFDKTLAE LKTRVEKIEC NKRHKTVLTE LQAKIARLTK RFEAAKEDLK
KRHEHPPNPP VSPGKTVNDV NSNNNMSYRN AGTVRQMLES KRNVSESAPP SFQTPVNTVS
STNLVTPPAV VSSQPKLQTP VTSGSLTATS VLPAPNTATV VATTQVPSGN PQPTISLQPL
PVILHVPVAV SSQPQLLQSH PGTLVTNQPS GNVEFISVQS PPTVSGLTKN PVSLPSLPNP
TKPNNVPSVP SPSIQRNPTA SAAPLGTTLA VQAVPTAHSI VQATRTSLPT VGPSGLYSPS
TNRGPIQMKI PISAFSTSSA AEQNSNTTPR IENQTNKTID ASVSKKAADS TSQCGKATGS
DSSGVIDLTM DDEESGASQD PKKLNHTPVS TMSSSQPVSR PLQPIQPAPP LQPSGVPTSG
PSQTTIHLLP TAPTTVNVTH RPVTQVTTRL PVPRAPANHQ VVYTTLPAPP AQAPLRGTVM
QAPAVRQVNP QNSVTVRVPQ TTTYVVNNGL TLGSTGPQLT VHHRPPQVHT EPPRPVHPAP
LPEAPQPQRL PPEAASTSLP QKPHLKLARV QSQNGIVLSW SVLEVDRSCA TVDSYHLYAY
HEEPSATVPS QWKKIGEVKA LPLPMACTLT QFVSGSKYYF AVRAKDIYGR FGPFCDPQST
DVISSTQSS*
speed 1.32 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