Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0423744703031569 (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) chr3:41996136T>CN/A show variant in all transcripts   IGV
HGNC symbol ULK4
Ensembl transcript ID ENST00000420927
Genbank transcript ID N/A
UniProt peptide Q96C45
alteration type single base exchange
alteration region CDS
DNA changes c.116A>G
cDNA.233A>G
g.7787A>G
AA changes K39R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 39
frameshift no
known variant Reference ID: rs2272007
databasehomozygous (C/C)heterozygousallele carriers
1000G13018142115
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0940.997
3.031
(flanking)4.5361
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 increased7777wt: 0.8795 / mu: 0.8936 (marginal change - not scored)wt: TTGTAGCCATTCTTTGTACTGATAAGTGCAAAAGGCCTGAA
mu: TTGTAGCCATTCTTTGTACTGATAAGTGCAGAAGGCCTGAA		 actg|ATAA
Donor increased7781wt: 0.36 / mu: 0.99wt: TGATAAGTGCAAAAG
mu: TGATAAGTGCAGAAG		 ATAA|gtgc
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      39NFVAILCTDKCKRPEITNWVRLTR
mutated  all conserved    39NFVAILCTDKCRRPEITNWVRLT
Ptroglodytes  all identical  ENSPTRG00000014788  39NFVAILCTDKCKRPEITNWVRLT
Mmulatta  no alignment  ENSMMUG00000014629  n/a
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040936  39NFVAILCTEKCKRPEITNWVRLT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000004176  39HFVAIICSEKHKRPELTNHVRLA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4280DOMAINProtein kinase.lost
388388CONFLICTK -> E (in Ref. 2; BAA91270).might get lost (downstream of altered splice site)
553580CONFLICTAIVLLTELIRENFRNSKLKQCLLPTLGE -> TTSSIGIGI LNCLVQHSTPVPRQCLVYV (in Ref. 3; AAH14794).might get lost (downstream of altered splice site)
732732CONFLICTG -> V (in Ref. 2; BAA91270).might get lost (downstream of altered splice site)
842880REPEATHEAT 1.might get lost (downstream of altered splice site)
926964REPEATHEAT 2.might get lost (downstream of altered splice site)
10241024CONFLICTR -> S (in Ref. 3; AAH40739).might get lost (downstream of altered splice site)
10251063REPEATHEAT 3.might get lost (downstream of altered splice site)
11471150COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
11511189REPEATHEAT 4.might get lost (downstream of altered splice site)
12131253REPEATHEAT 5.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1743 / 1743
position (AA) of stopcodon in wt / mu AA sequence 581 / 581
position of stopcodon in wt / mu cDNA 1860 / 1860
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 118 / 118
chromosome 3
strand -1
last intron/exon boundary 1774
theoretical NMD boundary in CDS 1606
length of CDS 1743
coding sequence (CDS) position 116
cDNA position
(for ins/del: last normal base / first normal base)		 233
gDNA position
(for ins/del: last normal base / first normal base)		 7787
chromosomal position
(for ins/del: last normal base / first normal base)		 41996136
original gDNA sequence snippet TCTTTGTACTGATAAGTGCAAAAGGCCTGAAATAACCAACT
altered gDNA sequence snippet TCTTTGTACTGATAAGTGCAGAAGGCCTGAAATAACCAACT
original cDNA sequence snippet TCTTTGTACTGATAAGTGCAAAAGGCCTGAAATAACCAACT
altered cDNA sequence snippet TCTTTGTACTGATAAGTGCAGAAGGCCTGAAATAACCAACT
wildtype AA sequence MENFILYEEI GRGSKTVVYK GRRKGTINFV AILCTDKCKR PEITNWVRLT REIKHKNIVT
FHEWYETSNH LWLVVELCTG GSLKTVIAQD ENLPEDVVRE FGIDLISGLH HLHKLGILFC
DISPRKILLE GPGTLKFSNF CLAKVEGENL EEFFALVAAE EGGGDNGENV LKKSMKSRVK
GSPVYTAPEV VRGADFSISS DLWSLGCLLY EMFSGKPPFF SESISELTEK ILCEDPLPPI
PKDSSRPKAS SDFINLLDGL LQRDPQKRLT WTRLLQHSFW KKAFAGADQE SSVEDLSLSR
NTMECSGPQD SKELLQNSQS RQAKGHKSGQ PLGHSFRLEN PTEFRPKSTL EGQLNESMFL
LSSRPTPRTS TAVEVSPGED MTHCSPQKTS PLTKITSGHL SQQDLESQMR ELIYTDSDLV
VTPIIDNPKI MKQPPVKFDA KILHLPTYSV DKLLFLKDQD WNDFLQQVCS QIDSTEKSMG
ASRAKLNLLC YLCVVAGHQE VATRLLHSPL FQLLIQHLRI APNWDIRAKV AHVIGLLASH
TAELQENTPV VETTSSIGIG ILNCLVQHST PVPRQCLVYV *
mutated AA sequence MENFILYEEI GRGSKTVVYK GRRKGTINFV AILCTDKCRR PEITNWVRLT REIKHKNIVT
FHEWYETSNH LWLVVELCTG GSLKTVIAQD ENLPEDVVRE FGIDLISGLH HLHKLGILFC
DISPRKILLE GPGTLKFSNF CLAKVEGENL EEFFALVAAE EGGGDNGENV LKKSMKSRVK
GSPVYTAPEV VRGADFSISS DLWSLGCLLY EMFSGKPPFF SESISELTEK ILCEDPLPPI
PKDSSRPKAS SDFINLLDGL LQRDPQKRLT WTRLLQHSFW KKAFAGADQE SSVEDLSLSR
NTMECSGPQD SKELLQNSQS RQAKGHKSGQ PLGHSFRLEN PTEFRPKSTL EGQLNESMFL
LSSRPTPRTS TAVEVSPGED MTHCSPQKTS PLTKITSGHL SQQDLESQMR ELIYTDSDLV
VTPIIDNPKI MKQPPVKFDA KILHLPTYSV DKLLFLKDQD WNDFLQQVCS QIDSTEKSMG
ASRAKLNLLC YLCVVAGHQE VATRLLHSPL FQLLIQHLRI APNWDIRAKV AHVIGLLASH
TAELQENTPV VETTSSIGIG ILNCLVQHST PVPRQCLVYV *
speed 0.59 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