Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999244413401654 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr10:128974220G>AN/A show variant in all transcripts   IGV
HGNC symbol DOCK1
Ensembl transcript ID ENST00000280333
Genbank transcript ID NM_001380
UniProt peptide Q14185
alteration type single base exchange
alteration region intron
DNA changes g.380243G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs11594560
databasehomozygous (A/A)heterozygousallele carriers
1000G121588709
ExAC39562106525021
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.50
1.6720.003
(flanking)-0.2990
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 increased380246wt: 0.9917 / mu: 0.9933 (marginal change - not scored)wt: CCTCGTTCTTCTCTTTCGCATCTGTTAGAAACCCATTGTTT
mu: CCTCGTTCTTCTCTTTCACATCTGTTAGAAACCCATTGTTT		 gcat|CTGT
Acc marginally increased380237wt: 0.7019 / mu: 0.7387 (marginal change - not scored)wt: TGGGTCCAGCCTCGTTCTTCTCTTTCGCATCTGTTAGAAAC
mu: TGGGTCCAGCCTCGTTCTTCTCTTTCACATCTGTTAGAAAC		 ttct|CTTT
Acc marginally increased380243wt: 0.9873 / mu: 0.9909 (marginal change - not scored)wt: CAGCCTCGTTCTTCTCTTTCGCATCTGTTAGAAACCCATTG
mu: CAGCCTCGTTCTTCTCTTTCACATCTGTTAGAAACCCATTG		 ttcg|CATC
Acc gained3802450.51mu: GCCTCGTTCTTCTCTTTCACATCTGTTAGAAACCCATTGTT caca|TCTG
distance from splice site 48192
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
12071617DOMAINDHR-2.might get lost (downstream of altered splice site)
14011402MUTAGENYI->AA: Abolishes Rac GEF activity.might get lost (downstream of altered splice site)
14871489MUTAGENISP->AAA: Abolishes Rac GEF activity.might get lost (downstream of altered splice site)
16871695REGIONPhosphoinositide-binding (Potential).might get lost (downstream of altered splice site)
17511751MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17561756MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
17931819REGIONInteraction with NCK2 second and third SH3 domain (minor).might get lost (downstream of altered splice site)
17991805MOTIFSH3-binding; interaction with CRK (Potential).might get lost (downstream of altered splice site)
18111811MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
18201836REGIONInteraction with NCK2 third SH3 domain (major).might get lost (downstream of altered splice site)
18371852REGIONInteraction with NCK2 (minor).might get lost (downstream of altered splice site)
18381843MOTIFSH3-binding; interaction with CRK (Potential).might get lost (downstream of altered splice site)
18571857CONFLICTA -> T (in Ref. 1; BAA09454).might get lost (downstream of altered splice site)
18581858MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 110 / 110
chromosome 10
strand 1
last intron/exon boundary 5612
theoretical NMD boundary in CDS 5452
length of CDS 5598
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 380243
chromosomal position
(for ins/del: last normal base / first normal base)		 128974220
original gDNA sequence snippet CAGCCTCGTTCTTCTCTTTCGCATCTGTTAGAAACCCATTG
altered gDNA sequence snippet CAGCCTCGTTCTTCTCTTTCACATCTGTTAGAAACCCATTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MTRWVPTKRE EKYGVAFYNY DARGADELSL QIGDTVHILE TYEGWYRGYT LRKKSKKGIF
PASYIHLKEA IVEGKGQHET VIPGDLPLIQ EVTTTLREWS TIWRQLYVQD NREMFRSVRH
MIYDLIEWRS QILSGTLPQD ELKELKKKVT AKIDYGNRIL DLDLVVRDED GNILDPELTS
TISLFRAHEI ASKQVEERLQ EEKSQKQNID INRQAKFAAT PSLALFVNLK NVVCKIGEDA
EVLMSLYDPV ESKFISENYL VRWSSSGLPK DIDRLHNLRA VFTDLGSKDL KREKISFVCQ
IVRVGRMELR DNNTRKLTSG LRRPFGVAVM DVTDIINGKV DDEDKQHFIP FQPVAGENDF
LQTVINKVIA AKEVNHKGQG LWVTLKLLPG DIHQIRKEFP HLVDRTTAVA RKTGFPEIIM
PGDVRNDIYV TLVQGDFDKG SKTTAKNVEV TVSVYDEDGK RLEHVIFPGA GDEAISEYKS
VIYYQVKQPR WFETVKVAIP IEDVNRSHLR FTFRHRSSQD SKDKSEKIFA LAFVKLMRYD
GTTLRDGEHD LIVYKAEAKK LEDAATYLSL PSTKAELEEK GHSATGKSMQ SLGSCTISKD
SFQISTLVCS TKLTQNVDLL GLLKWRSNTS LLQQNLRQLM KVDGGEVVKF LQDTLDALFN
IMMENSESET FDTLVFDALV FIIGLIADRK FQHFNPVLET YIKKHFSATL AYTKLTKVLK
NYVDGAEKPG VNEQLYKAMK ALESIFKFIV RSRILFNQLY ENKGEADFVE SLLQLFRSIN
DMMSSMSDQT VRVKGAALKY LPTIVNDVKL VFDPKELSKM FTEFILNVPM GLLTIQKLYC
LIEIVHSDLF TQHDCREILL PMMTDQLKYH LERQEDLEAC CQLLSHILEV LYRKDVGPTQ
RHVQIIMEKL LRTVNRTVIS MGRDSELIGN FVACMTAILR QMEDYHYAHL IKTFGKMRTD
VVDFLMETFI MFKNLIGKNV YPFDWVIMNM VQNKVFLRAI NQYADMLNKK FLDQANFELQ
LWNNYFHLAV AFLTQESLQL ENFSSAKRAK ILNKYGDMRR QIGFEIRDMW YNLGQHKIKF
IPEMVGPILE MTLIPETELR KATIPIFFDM MQCEFHSTRS FQMFENEIIT KLDHEVEGGR
GDEQYKVLFD KILLEHCRKH KYLAKTGETF VKLVVRLMER LLDYRTIMHD ENKENRMSCT
VNVLNFYKEI EREEMYIRYL YKLCDLHKEC DNYTEAAYTL LLHAKLLKWS EDVCVAHLTQ
RDGYQATTQG QLKEQLYQEI IHYFDKGKMW EEAIALGKEL AEQYENEMFD YEQLSELLKK
QAQFYENIVK VIRPKPDYFA VGYYGQGFPT FLRGKVFIYR GKEYERREDF EARLLTQFPN
AEKMKTTSPP GDDIKNSPGQ YIQCFTVKPK LDLPPKFHRP VSEQIVSFYR VNEVQRFEYS
RPIRKGEKNP DNEFANMWIE RTIYTTAYKL PGILRWFEVK SVFMVEISPL ENAIETMQLT
NDKINSMVQQ HLDDPSLPIN PLSMLLNGIV DPAVMGGFAN YEKAFFTDRY LQEHPEAHEK
IEKLKDLIAW QIPFLAEGIR IHGDKVTEAL RPFHERMEAC FKQLKEKVEK EYGVRIMPSS
LDDRRGSRPR SMVRSFTMPS SSRPLSVASV SSLSSDSTPS RPGSDGFALE PLLPKKMHSR
SQDKLDKDDL EKEKKDKKKE KRNSKHQEIF EKEFKPTDIS LQQSEAVILS ETISPLRPQR
PKSQVMNVIG SERRFSVSPS SPSSQQTPPP VTPRAKLSFS MQSSLELNGM TGADVADVPP
PLPLKGSVAD YGNLMENQDL LGSPTPPPPP PHQRHLPPPL PSKTPPPPPP KTTRKQASVD
SGIVQ*
mutated AA sequence N/A
speed 0.89 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