Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999991695 (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) chr19:1074000A>TN/A show variant in all transcripts   IGV
HGNC symbol ARHGAP45
Ensembl transcript ID ENST00000539243
Genbank transcript ID N/A
UniProt peptide Q92619
alteration type single base exchange
alteration region CDS
DNA changes c.825A>T
cDNA.928A>T
g.8079A>T
AA changes E275D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 275
frameshift no
known variant Reference ID: rs2074442
databasehomozygous (T/T)heterozygousallele carriers
1000G15418072348
ExAC26577-203876190
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.0430.086
-0.7180.027
(flanking)1.1080.042
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased8071wt: 0.53 / mu: 0.66wt: CTCCCAGCCTGGAAG
mu: CTCCCAGCCTGGATG		 CCCA|gcct
distance from splice site 14
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      275GPGSEGTPPSLEDCDAGCLPAEEV
mutated  all conserved    275GPGSEGTPPSLDDCDAGCLPAEE
Ptroglodytes  all conserved  ENSPTRG00000010180  259GPGSEGTPPSLDDCDAGC
Mmulatta  all conserved  ENSMMUG00000015301  259GPGSEGTPPGLDDCDAGC
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035697  269GAGTEGPPHNVEECEEGCLPP
Ggallus  not conserved  ENSGALG00000002559  189GI----TPLPLHSHITVRPA
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000062049  284HGSSHT---WGDSSELAMSAEE
Dmelanogaster  no homologue    
Celegans  not conserved  ZK669.1  185STHQTNPDPN----DQSTEKVME
Xtropicalis  all identical  ENSXETG00000003287  274GGLSGGEGALSNAPEYLEAGS
protein features
start (aa)end (aa)featuredetails 
305305MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
376412COILEDPotential.might get lost (downstream of altered splice site)
440499COILEDPotential.might get lost (downstream of altered splice site)
569569MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
578578MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
619619MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
702747ZN_FINGPhorbol-ester/DAG-type.might get lost (downstream of altered splice site)
761974DOMAINRho-GAP.might get lost (downstream of altered splice site)
10271027MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10301030MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10321032MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3459 / 3459
position (AA) of stopcodon in wt / mu AA sequence 1153 / 1153
position of stopcodon in wt / mu cDNA 3562 / 3562
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 104 / 104
chromosome 19
strand 1
last intron/exon boundary 3216
theoretical NMD boundary in CDS 3062
length of CDS 3459
coding sequence (CDS) position 825
cDNA position
(for ins/del: last normal base / first normal base)		 928
gDNA position
(for ins/del: last normal base / first normal base)		 8079
chromosomal position
(for ins/del: last normal base / first normal base)		 1074000
original gDNA sequence snippet GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGTAAGCC
altered gDNA sequence snippet GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGTAAGCC
original cDNA sequence snippet GGCACGCCTCCCAGCCTGGAAGACTGTGACGCCGGCTGCCT
altered cDNA sequence snippet GGCACGCCTCCCAGCCTGGATGACTGTGACGCCGGCTGCCT
wildtype AA sequence MSRGQRVLKG LLGWVCTWTW AWRARLGARG CGLHVLCPRD LPLPPEELPR KDGADAVFPG
PSLEPPAGSS GVKATGTLKR PTSLSRHASA AGFPLSGAAS WTLGRSHRSP LTAASPGELP
TEGAGPDVVE DISHLLADVA RFAEGLEKLK ECVLRDDLLE ARRPRAHECL GEALRVMHQI
ISKYPLLNTV ETLTAAGTLI AKVKAFHYES NNDLEKQEFE KALETIAVAF SSTVSEFLMG
EVDSSTLLAV PPGDSSQSME SLYGPGSEGT PPSLEDCDAG CLPAEEVDVL LQRCEGGVDA
ALLYAKNMAK YMKDLISYLE KRTTLEMEFA KGLQKIAHNC RQSVMQEPHM PLLSIYSLAL
EQDLEFGHSM VQAVGTLQTQ TFMQPLTLRR LEHEKRRKEI KEAWHRAQRK LQEAESNLRK
AKQGYVQRCE DHDKARFLVA KAEEEQAGSA PGAGSTATKT LDKRRRLEEE AKNKAEEAMA
TYRTCVADAK TQKQELEDTK VTALRQIQEV IRQSDQTIKS ATISYYQMMH MQTAPLPVHF
QMLCESSKLY DPGQQYASHV RQLQRDQEPD VHYDFEPHVS ANAWSPVMRA RKSSFNVSDV
ARPEAAGSPP EEGGCTEGTP AKDHRAGRGH QVHKSWPLSI SDSDSGLDPG PGAGDFKKFE
RTSSSGTMSS TEELVDPDGG AGASAFEQAD LNGMTPELPV AVPSGPFRHE GLSKAARTHR
LRKLRTPAKC RECNSYVYFQ GAECEECCLA CHKKCLETLA IQCGHKKLQG RLQLFGQDFS
HAARSAPDGV PFIVKKCVCE IERRALRTKG IYRVNGVKTR VEKLCQAFEN GKELVELSQA
SPHDISNVLK LYLRQLPEPL ISFRLYHELV GLAKDSLKAE AEAKAASRGR QDGSESEAVA
VALAGRLREL LRDLPPENRA SLQYLLRHLR RIVEVEQDNK MTPGNLGIVF GPTLLRPRPT
EATVSLSSLV DYPHQARVIE TLIVHYGLVF EEEPEETPGG QDESSNQRAE VVVQVPYLEA
GEAVVYPLQE AAADGCRESR VVSNDSDSDL EEASELLSSS EASALGHLSF LEQQQSEASL
EVASGSHSGS EEQLEATARE DGDGDEDGPA QQLSGFNTNQ SNNVLQAPLP PMRLRGGRMT
LGSCRERQPE FV*
mutated AA sequence MSRGQRVLKG LLGWVCTWTW AWRARLGARG CGLHVLCPRD LPLPPEELPR KDGADAVFPG
PSLEPPAGSS GVKATGTLKR PTSLSRHASA AGFPLSGAAS WTLGRSHRSP LTAASPGELP
TEGAGPDVVE DISHLLADVA RFAEGLEKLK ECVLRDDLLE ARRPRAHECL GEALRVMHQI
ISKYPLLNTV ETLTAAGTLI AKVKAFHYES NNDLEKQEFE KALETIAVAF SSTVSEFLMG
EVDSSTLLAV PPGDSSQSME SLYGPGSEGT PPSLDDCDAG CLPAEEVDVL LQRCEGGVDA
ALLYAKNMAK YMKDLISYLE KRTTLEMEFA KGLQKIAHNC RQSVMQEPHM PLLSIYSLAL
EQDLEFGHSM VQAVGTLQTQ TFMQPLTLRR LEHEKRRKEI KEAWHRAQRK LQEAESNLRK
AKQGYVQRCE DHDKARFLVA KAEEEQAGSA PGAGSTATKT LDKRRRLEEE AKNKAEEAMA
TYRTCVADAK TQKQELEDTK VTALRQIQEV IRQSDQTIKS ATISYYQMMH MQTAPLPVHF
QMLCESSKLY DPGQQYASHV RQLQRDQEPD VHYDFEPHVS ANAWSPVMRA RKSSFNVSDV
ARPEAAGSPP EEGGCTEGTP AKDHRAGRGH QVHKSWPLSI SDSDSGLDPG PGAGDFKKFE
RTSSSGTMSS TEELVDPDGG AGASAFEQAD LNGMTPELPV AVPSGPFRHE GLSKAARTHR
LRKLRTPAKC RECNSYVYFQ GAECEECCLA CHKKCLETLA IQCGHKKLQG RLQLFGQDFS
HAARSAPDGV PFIVKKCVCE IERRALRTKG IYRVNGVKTR VEKLCQAFEN GKELVELSQA
SPHDISNVLK LYLRQLPEPL ISFRLYHELV GLAKDSLKAE AEAKAASRGR QDGSESEAVA
VALAGRLREL LRDLPPENRA SLQYLLRHLR RIVEVEQDNK MTPGNLGIVF GPTLLRPRPT
EATVSLSSLV DYPHQARVIE TLIVHYGLVF EEEPEETPGG QDESSNQRAE VVVQVPYLEA
GEAVVYPLQE AAADGCRESR VVSNDSDSDL EEASELLSSS EASALGHLSF LEQQQSEASL
EVASGSHSGS EEQLEATARE DGDGDEDGPA QQLSGFNTNQ SNNVLQAPLP PMRLRGGRMT
LGSCRERQPE FV*
speed 0.78 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