mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999995 (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)

chr10:123970530T>CN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000368999

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.824T>C
cDNA.1159T>C
g.221842T>C

AA changes

V275A Score: 64 explain score(s)

position(s) of altered AA
if AA alteration in CDS

275

frameshift

known variant

Reference ID: rs2295873

database	homozygous (C/C)	heterozygous	allele carriers
1000G	437	880	1317
ExAC	3946	16424	20370

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.156	0
	0.636	0
(flanking)	-0.178	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	221844	wt: 0.4491 / mu: 0.4842 (marginal change - not scored)	wt: CGCCCCTTGAGCCCGCTGTGGGGCCCAAAGCTGCCTGCCCT mu: CGCCCCTTGAGCCCGCTGCGGGGCCCAAAGCTGCCTGCCCT	gtgg\|GGCC
Donor gained	221837	0.58	mu: GAGCCCGCTGCGGGG	GCCC\|gctg

distance from splice site

619

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

275

mutated

not conserved

275

Ptroglodytes

not conserved

ENSPTRG00000003008

2180

Mmulatta

not conserved

ENSMMUG00000013033

2179

Fcatus

no alignment

ENSFCAG00000003650

n/a

Mmusculus

not conserved

ENSMUSG00000030852

2093

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000062790

583

Dmelanogaster

no alignment

FBgn0026620

n/a

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000015587

271

protein features

start (aa)	end (aa)	feature	details
482	549	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
493	493	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
571	571	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
575	575	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
758	758	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
962	962	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1267	1267	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1313	1313	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1562	1562	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1946	1946	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1949	1949	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1956	2016	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2073	2073	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2226	2226	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2246	2246	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2256	2256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2315	2403	DOMAIN	SPAZ.	might get lost (downstream of altered splice site)
2317	2317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2321	2321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2359	2359	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2390	2390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2392	2392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2394	2394	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2403	2403	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2420	2423	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
2512	2512	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> 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

3117 / 3117

position (AA) of stopcodon in wt / mu AA sequence

1039 / 1039

position of stopcodon in wt / mu cDNA

3452 / 3452

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

336 / 336

chromosome

strand

last intron/exon boundary

3387

theoretical NMD boundary in CDS

3001

length of CDS

3117

coding sequence (CDS) position

824

cDNA position
(for ins/del: last normal base / first normal base)

1159

gDNA position
(for ins/del: last normal base / first normal base)

221842

chromosomal position
(for ins/del: last normal base / first normal base)

123970530

original gDNA sequence snippet

GACGCCCCTTGAGCCCGCTGTGGGGCCCAAAGCTGCCTGCC

altered gDNA sequence snippet

GACGCCCCTTGAGCCCGCTGCGGGGCCCAAAGCTGCCTGCC

original cDNA sequence snippet

GACGCCCCTTGAGCCCGCTGTGGGGCCCAAAGCTGCCTGCC

altered cDNA sequence snippet

GACGCCCCTTGAGCCCGCTGCGGGGCCCAAAGCTGCCTGCC

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 KTPLKTMVED VMSVCSLFDT FRVKKSPKRS PLSDPPSQDP
TPAATPETPP VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF
SSPTEELDYR NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP
TPCSGSSFEE TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI
EITAPEGSFA SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQE ELEFAIMRIE
ALKLARQIAL ASRSHQDAKR EAAHPTDVSI SKTALYSRIG TAEVEKPAGL LFQQPDLDSA
LQIARAEIIT KEREVSEWKD KYEESRREVM EMRKIVAEYE KTIAQMIEDE QREKSVSHQT
VQQLVLEKEQ ALADLNSVEK SLADLFRRYE KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE
EQRYQALKVH AEEKLDRANA EIAQVRGKAQ QEQAAHQASL RKEQLRVDAL ERTLEQKNKE
IEELTKICDE LIAKMGKS*

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 LEPAAGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTMVED VMSVCSLFDT FRVKKSPKRS PLSDPPSQDP
TPAATPETPP VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF
SSPTEELDYR NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP
TPCSGSSFEE TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI
EITAPEGSFA SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQE ELEFAIMRIE
ALKLARQIAL ASRSHQDAKR EAAHPTDVSI SKTALYSRIG TAEVEKPAGL LFQQPDLDSA
LQIARAEIIT KEREVSEWKD KYEESRREVM EMRKIVAEYE KTIAQMIEDE QREKSVSHQT
VQQLVLEKEQ ALADLNSVEK SLADLFRRYE KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE
EQRYQALKVH AEEKLDRANA EIAQVRGKAQ QEQAAHQASL RKEQLRVDAL ERTLEQKNKE
IEELTKICDE LIAKMGKS*

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