mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999995695578045 (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)

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

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000369000

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.1311T>C
g.221842T>C

AA changes

N/A

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

N/A

frameshift

N/A

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

splice site change before start ATG (at aa -101) |

effect	gDNA position	score	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?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
197	197	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
201	201	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
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

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

1610 / 1610

chromosome

strand

last intron/exon boundary

3260

theoretical NMD boundary in CDS

1600

length of CDS

1716

coding sequence (CDS) position

N/A

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

1311

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

MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT FDIDKWDDPN FNPFSSTSKM
QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA SFEIPASAME ANGVDGDGLN
KPAKKKKTPL KTVKKSPKRS PLSDPPSQDP TPAATPETPP VISAVVHATD EEKLAVTNQK
WTCMTVDLEA DKQDYPQPSD LSTFVNETKF SSPTEELDYR NSYEIEYMEK IGSSLPQDDD
APKKQALYLM FDTSQESPVK SSPVRMSESP TPCSGSSFEE TEALVNTAAK NQHPVPRGLA
PNQESHLQVP EKSSQKELEA MGLGTPSEAI EIREAAHPTD VSISKTALYS RIGTAEVEKP
AGLLFQQPDL DSALQIARAE IITKEREVSE WKDKYEESRR EVMEMRKIVA EYEKTIAQMI
EDEQREKSVS HQTVQQLVLE KEQALADLNS VEKSLADLFR RYEKMKEVLE GFRKNEEVLK
RCAQEYLSRV KKEEQRYQAL KVHAEEKLDR ANAEIAQVRG KAQQEQAAHQ ASLRKEQLRV
DALERTLEQK NKEIEELTKI CDELIAKMGK S*

mutated AA sequence

N/A

speed

0.91 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