Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (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
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:52496149C>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF615
Ensembl transcript ID ENST00000376716
Genbank transcript ID NM_198480
UniProt peptide Q8N8J6
alteration type single base exchange
alteration region CDS
DNA changes c.2180G>A
cDNA.2472G>A
g.15335G>A
AA changes R727K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 727
frameshift no
known variant Reference ID: rs16983353
databasehomozygous (T/T)heterozygousallele carriers
1000G63111291760
ExAC90891458923678
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2860.001
0.8390.011
(flanking)0.2960.027
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased15329wt: 0.8536 / mu: 0.8593 (marginal change - not scored)wt: GCACTTGTCTATCCTTGTTAAACACAGGAGAATTCACAGGT
mu: GCACTTGTCTATCCTTGTTAAACACAAGAGAATTCACAGGT		 ttaa|ACAC
Acc marginally increased15325wt: 0.5459 / mu: 0.5856 (marginal change - not scored)wt: TTGCGCACTTGTCTATCCTTGTTAAACACAGGAGAATTCAC
mu: TTGCGCACTTGTCTATCCTTGTTAAACACAAGAGAATTCAC		 cttg|TTAA
Donor increased15330wt: 0.47 / mu: 0.98wt: GTTAAACACAGGAGA
mu: GTTAAACACAAGAGA		 TAAA|caca
Donor marginally increased15335wt: 0.9767 / mu: 0.9978 (marginal change - not scored)wt: ACACAGGAGAATTCA
mu: ACACAAGAGAATTCA		 ACAG|gaga
distance from splice site 1562
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      727AFAHLSILVKHRRIHR*
mutated  all conserved    727SILVKHKRIHR
Ptroglodytes  all conserved  ENSPTRG00000023042  737SFAHLSILVKHKRIHR
Mmulatta  all conserved  ENSMMUG00000003712  733AFAHLSILVKHKRIHR
Fcatus  all conserved  ENSFCAG00000009050  737TFAHLSILVKHKRIHR
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
708730ZN_FINGC2H2-type 19.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2196 / 2196
position (AA) of stopcodon in wt / mu AA sequence 732 / 732
position of stopcodon in wt / mu cDNA 2488 / 2488
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 293 / 293
chromosome 19
strand -1
last intron/exon boundary 531
theoretical NMD boundary in CDS 188
length of CDS 2196
coding sequence (CDS) position 2180
cDNA position
(for ins/del: last normal base / first normal base)		 2472
gDNA position
(for ins/del: last normal base / first normal base)		 15335
chromosomal position
(for ins/del: last normal base / first normal base)		 52496149
original gDNA sequence snippet GTCTATCCTTGTTAAACACAGGAGAATTCACAGGTAGTCAT
altered gDNA sequence snippet GTCTATCCTTGTTAAACACAAGAGAATTCACAGGTAGTCAT
original cDNA sequence snippet GTCTATCCTTGTTAAACACAGGAGAATTCACAGGTAGTCAT
altered cDNA sequence snippet GTCTATCCTTGTTAAACACAAGAGAATTCACAGGTAGTCAT
wildtype AA sequence MMQAQESLTL EDVAVDFTWE EWQFLSPAQK DLYRDVMLEN YSNLVAVGYQ ASKPDALSKL
ERGEETCTTE DEIYSRICSE IRKIDDPLQH HLQNQSIQKS VKQCHEQNMF GNIVNQNKGH
FLLKQDCDTF DLHEKPLKSN LSFENQKRSS GLKNSAEFNR DGKSLFHANH KQFYTEMKFP
AIAKPINKSQ FIKQQRTHNI ENAHVCSECG KAFLKLSQFI DHQRVHTGEK PHVCSMCGKA
FSRKSRLMDH QRTHTELKHY ECTECDKTFL KKSQLNIHQK THMGGKPYTC SQCGKAFIKK
CRLIYHQRTH TGEKPHGCSV CGKAFSTKFS LTTHQKTHTG EKPYICSECG KGFIEKRRLT
AHHRTHTGEK PFICNKCGKG FTLKNSLITH QQTHTGEKLY TCSECGKGFS MKHCLMVHQR
THTGEKPYKC NECGKGFALK SPLIRHQRTH TGEKPYVCTE CRKGFTMKSD LIVHQRTHTA
EKPYICNDCG KGFTVKSRLI VHQRTHTGEK PYVCGECGKG FPAKIRLMGH QRTHTGEKPY
ICNECGKGFT EKSHLNVHRR THTGEKPYVC SECGKGLTGK SMLIAHQRTH TGEKPYICNE
CGKGFTMKST LSIHQQTHTG EKPYKCNECD KTFRKKTCLI QHQRFHTGKT SFACTECGKF
SLRKNDLITH QRIHTGEKPY KCSDCGKAFT TKSGLNVHQR KHTGERPYGC SDCGKAFAHL
SILVKHRRIH R*
mutated AA sequence MMQAQESLTL EDVAVDFTWE EWQFLSPAQK DLYRDVMLEN YSNLVAVGYQ ASKPDALSKL
ERGEETCTTE DEIYSRICSE IRKIDDPLQH HLQNQSIQKS VKQCHEQNMF GNIVNQNKGH
FLLKQDCDTF DLHEKPLKSN LSFENQKRSS GLKNSAEFNR DGKSLFHANH KQFYTEMKFP
AIAKPINKSQ FIKQQRTHNI ENAHVCSECG KAFLKLSQFI DHQRVHTGEK PHVCSMCGKA
FSRKSRLMDH QRTHTELKHY ECTECDKTFL KKSQLNIHQK THMGGKPYTC SQCGKAFIKK
CRLIYHQRTH TGEKPHGCSV CGKAFSTKFS LTTHQKTHTG EKPYICSECG KGFIEKRRLT
AHHRTHTGEK PFICNKCGKG FTLKNSLITH QQTHTGEKLY TCSECGKGFS MKHCLMVHQR
THTGEKPYKC NECGKGFALK SPLIRHQRTH TGEKPYVCTE CRKGFTMKSD LIVHQRTHTA
EKPYICNDCG KGFTVKSRLI VHQRTHTGEK PYVCGECGKG FPAKIRLMGH QRTHTGEKPY
ICNECGKGFT EKSHLNVHRR THTGEKPYVC SECGKGLTGK SMLIAHQRTH TGEKPYICNE
CGKGFTMKST LSIHQQTHTG EKPYKCNECD KTFRKKTCLI QHQRFHTGKT SFACTECGKF
SLRKNDLITH QRIHTGEKPY KCSDCGKAFT TKSGLNVHQR KHTGERPYGC SDCGKAFAHL
SILVKHKRIH R*
speed 1.38 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