Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999112341 (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) chr10:123996976G>AN/A show variant in all transcripts   IGV
HGNC symbol TACC2
Ensembl transcript ID ENST00000260733
Genbank transcript ID NM_006997
UniProt peptide O95359
alteration type single base exchange
alteration region CDS
DNA changes c.2428G>A
cDNA.2509G>A
g.248288G>A
AA changes A810T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 810
frameshift no
known variant Reference ID: rs2295879
databasehomozygous (A/A)heterozygousallele carriers
1000G1949601154
ExAC58432108126924
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8910
-0.3820.001
(flanking)3.6840.031
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased248278wt: 0.55 / mu: 0.61wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA
mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA		 ccgc|ATCG
Acc marginally increased248282wt: 0.8313 / mu: 0.8516 (marginal change - not scored)wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA
mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA		 atcg|GGAC
Donor increased248288wt: 0.40 / mu: 0.91wt: GGACCGCTGAGGTGG
mu: GGACCACTGAGGTGG		 ACCG|ctga
Donor marginally increased248293wt: 0.9307 / mu: 0.9811 (marginal change - not scored)wt: GCTGAGGTGGAGAAA
mu: ACTGAGGTGGAGAAA		 TGAG|gtgg
Donor gained2482900.44mu: ACCACTGAGGTGGAG CACT|gagg
distance from splice site 67
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      810SKTALYSRIGTAEVEKPAGLLFQQ
mutated  not conserved    810SKTALYSRIGTTEVEKPAGLLFQ
Ptroglodytes  all identical  ENSPTRG00000003008  2715SKTALYSRIGTAEVEKPAGLLFQ
Mmulatta  all identical  ENSMMUG00000013033  2714SKTALYSRIGTAEVEKPAGLLFQ
Fcatus  all identical  ENSFCAG00000003650  2624SKTALYSRIGTAEVDKPAGLLFQ
Mmusculus  not conserved  ENSMUSG00000030852  2663SKTALYSRIGSTEVEKPPGLLFQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000062790  1101SKGSLYSRTGYIEGESP----HL
Dmelanogaster  all conserved  FBgn0026620  1172YEKAIAELI--SEKEQQAQLHER
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000015587  763SHNSLYSRTVAMETGSSA
protein features
start (aa)end (aa)featuredetails 
962962MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10251025MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13131313MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14261426MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
15621562MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19461946MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19491949MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19562016COMPBIASPro-rich.might get lost (downstream of altered splice site)
20722072MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
20732073MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
22262226MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
22462246MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
22562256MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23152403DOMAINSPAZ.might get lost (downstream of altered splice site)
23172317MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23212321MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23592359MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23892389MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23902390MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23922392MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23942394MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24032403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24202423COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
25122512MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
26752703COILEDPotential.might get lost (downstream of altered splice site)
27462947COILEDPotential.might get lost (downstream of altered splice site)
28842884MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
28962896CONFLICTR -> Q (in Ref. 3; AAO62629/AAO62630).might get lost (downstream of altered splice site)
29092909CONFLICTS -> T (in Ref. 5; AAH39311).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3081 / 3081
position (AA) of stopcodon in wt / mu AA sequence 1027 / 1027
position of stopcodon in wt / mu cDNA 3162 / 3162
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 82 / 82
chromosome 10
strand 1
last intron/exon boundary 3097
theoretical NMD boundary in CDS 2965
length of CDS 3081
coding sequence (CDS) position 2428
cDNA position
(for ins/del: last normal base / first normal base)		 2509
gDNA position
(for ins/del: last normal base / first normal base)		 248288
chromosomal position
(for ins/del: last normal base / first normal base)		 123996976
original gDNA sequence snippet TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA
altered gDNA sequence snippet TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA
original cDNA sequence snippet TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA
altered cDNA sequence snippet TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA
wildtype AA sequence MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTDTFR VKKSPKRSPL SDPPSQDPTP AATPETPPVI
SAVVHATDEE KLAVTNQKWT CMTVDLEADK QDYPQPSDLS TFVNETKFSS PTEELDYRNS
YEIEYMEKIG SSLPQDDDAP KKQALYLMFD TSQESPVKSS PVRMSESPTP CSGSSFEETE
ALVNTAAKNQ HPVPRGLAPN QESHLQVPEK SSQKELEAMG LGTPSEAIEI TAPEGSFASA
DALLSRLAHP VSLCGALDYL EPDLAEKNPP LFAQKLQEEL EFAIMRIEAL KLARQIALAS
RSHQDAKREA AHPTDVSISK TALYSRIGTA EVEKPAGLLF QQPDLDSALQ IARAEIITKE
REVSEWKDKY EESRREVMEM RKIVAEYEKT IAQMIEDEQR EKSVSHQTVQ QLVLEKEQAL
ADLNSVEKSL ADLFRRYEKM KEVLEGFRKN EEVLKRCAQE YLSRVKKEEQ RYQALKVHAE
EKLDRANAEI AQVRGKAQQE QAAHQASLRK EQLRVDALER TLEQKNKEIE ELTKICDELI
AKMGKS*
mutated AA sequence MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTDTFR VKKSPKRSPL SDPPSQDPTP AATPETPPVI
SAVVHATDEE KLAVTNQKWT CMTVDLEADK QDYPQPSDLS TFVNETKFSS PTEELDYRNS
YEIEYMEKIG SSLPQDDDAP KKQALYLMFD TSQESPVKSS PVRMSESPTP CSGSSFEETE
ALVNTAAKNQ HPVPRGLAPN QESHLQVPEK SSQKELEAMG LGTPSEAIEI TAPEGSFASA
DALLSRLAHP VSLCGALDYL EPDLAEKNPP LFAQKLQEEL EFAIMRIEAL KLARQIALAS
RSHQDAKREA AHPTDVSISK TALYSRIGTT EVEKPAGLLF QQPDLDSALQ IARAEIITKE
REVSEWKDKY EESRREVMEM RKIVAEYEKT IAQMIEDEQR EKSVSHQTVQ QLVLEKEQAL
ADLNSVEKSL ADLFRRYEKM KEVLEGFRKN EEVLKRCAQE YLSRVKKEEQ RYQALKVHAE
EKLDRANAEI AQVRGKAQQE QAAHQASLRK EQLRVDALER TLEQKNKEIE ELTKICDELI
AKMGKS*
speed 1.11 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