Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.782779915077709 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:37117302A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF382
Ensembl transcript ID ENST00000423582
Genbank transcript ID N/A
UniProt peptide Q96SR6
alteration type single base exchange
alteration region CDS
DNA changes c.356A>G
cDNA.1065A>G
g.21584A>G
AA changes E119G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 119
frameshift no
known variant Reference ID: rs3108171
databasehomozygous (G/G)heterozygousallele carriers
1000G117510502225
ExAC25280-177937487
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)1.6311
0.9621
(flanking)1.9391
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained215830.62mu: GATGGGGGAAATCAC TGGG|ggaa
distance from splice site 271
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      119IKEKFGDSTGWEKSLLNTKHEKIH
mutated  not conserved    119IKEKFGDSTGWGKSLLNTKHEKI
Ptroglodytes  all identical  ENSPTRG00000010898  168IKEKFGDSTGWEKSLLNTKHEKI
Mmulatta  all identical  ENSMMUG00000016449  168IKEKFGDSTGWEKSLLSTKHEKI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000074220  199AMGKLGGSKEWEGSILTSKQEKT
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 
70211REGIONRepresses transcription (By similarity).lost
129130CONFLICTMissing (in Ref. 1; AAM48246, 2; AAO72308 and 3; BAB55217).might get lost (downstream of altered splice site)
212234ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
296318ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
296550REGIONRequired for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).might get lost (downstream of altered splice site)
324346ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
352374ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
380402ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
408430ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
436458ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
464486ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
492514ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
520542ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
547547CONFLICTT -> M (in Ref. 6; AAI32676).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1506 / 1506
position (AA) of stopcodon in wt / mu AA sequence 502 / 502
position of stopcodon in wt / mu cDNA 2215 / 2215
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 710 / 710
chromosome 19
strand 1
last intron/exon boundary 795
theoretical NMD boundary in CDS 35
length of CDS 1506
coding sequence (CDS) position 356
cDNA position
(for ins/del: last normal base / first normal base)		 1065
gDNA position
(for ins/del: last normal base / first normal base)		 21584
chromosomal position
(for ins/del: last normal base / first normal base)		 37117302
original gDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered gDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
original cDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered cDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
wildtype AA sequence MAKPDMIRKL EQGEELWTQR IFPSYSYLEE DGKTEDVLVK FKEYQDRHSR PLIFINHKKL
IKERSNIYGK TFTLGKNRIS KTILCEYKPD GKVLKNISEL VIRNISPIKE KFGDSTGWEK
SLLNTKHEKI HPAVNLHKQT ERVLSGKQEL IQHQKVQAPE QPFDHNECEK SFLMKGMLFT
HTRAHRGERT FEYNKDGIAF IEKSSLSVHP SNLMEKKPSA YNKYGKFLCR KPVFIMPQRP
QTEEKPFHCP YCGNNFRRKS YLIEHQRIHT GEKPYVCNQC GKAFRQKTAL TLHEKTHIEG
KPFICIDCGK SFRQKATLTR HHKTHTGEKA YECPQCGSAF RKKSYLIDHQ RTHTGEKPYQ
CNECGKAFIQ KTTLTVHQRT HTGEKPYICN ECGKSFCQKT TLTLHQRIHT GEKPYICNEC
GKSFRQKAIL TVHHRIHTGE KSNGCPQCGK AFSRKSNLIR HQKTHTGEKP YECKQCGKFF
SCKSNLIVHQ KTHKVETTGI Q*
mutated AA sequence MAKPDMIRKL EQGEELWTQR IFPSYSYLEE DGKTEDVLVK FKEYQDRHSR PLIFINHKKL
IKERSNIYGK TFTLGKNRIS KTILCEYKPD GKVLKNISEL VIRNISPIKE KFGDSTGWGK
SLLNTKHEKI HPAVNLHKQT ERVLSGKQEL IQHQKVQAPE QPFDHNECEK SFLMKGMLFT
HTRAHRGERT FEYNKDGIAF IEKSSLSVHP SNLMEKKPSA YNKYGKFLCR KPVFIMPQRP
QTEEKPFHCP YCGNNFRRKS YLIEHQRIHT GEKPYVCNQC GKAFRQKTAL TLHEKTHIEG
KPFICIDCGK SFRQKATLTR HHKTHTGEKA YECPQCGSAF RKKSYLIDHQ RTHTGEKPYQ
CNECGKAFIQ KTTLTVHQRT HTGEKPYICN ECGKSFCQKT TLTLHQRIHT GEKPYICNEC
GKSFRQKAIL TVHHRIHTGE KSNGCPQCGK AFSRKSNLIR HQKTHTGEKP YECKQCGKFF
SCKSNLIVHQ KTHKVETTGI Q*
speed 0.82 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