mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999965260963273 (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)

chr6:32333955T>CN/A show variant in all transcripts IGV

HGNC symbol

TSBP1

Ensembl transcript ID

ENST00000442822

Genbank transcript ID

N/A

UniProt peptide

Q5SRN2

alteration type

single base exchange

alteration region

intron

DNA changes

g.5730A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs9268368

database	homozygous (C/C)	heterozygous	allele carriers
1000G	307	1022	1329
ExAC	10614	11539	22153

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.305	0.334
	0.03	0.323
(flanking)	0	0.331

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 increased	5729	wt: 0.59 / mu: 0.85	wt: TCAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTAT mu: TCAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTAT	tcat\|ATGA
Acc increased	5724	wt: 0.40 / mu: 0.48	wt: TTTCTTCAATTCTCTAGACACTTCATATGATAACCGAGGTA mu: TTTCTTCAATTCTCTAGACACTTCATGTGATAACCGAGGTA	acac\|TTCA
Acc marginally increased	5731	wt: 0.8651 / mu: 0.8766 (marginal change - not scored)	wt: AATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATAT mu: AATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATAT	atat\|GATA
Acc marginally increased	5720	wt: 0.8604 / mu: 0.8792 (marginal change - not scored)	wt: AATTTTTCTTCAATTCTCTAGACACTTCATATGATAACCGA mu: AATTTTTCTTCAATTCTCTAGACACTTCATGTGATAACCGA	ctag\|ACAC
Donor gained	5729	0.36	mu: CTTCATGTGATAACC	TCAT\|gtga
Donor gained	5724	0.73	mu: AGACACTTCATGTGA	ACAC\|ttca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
99	119	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	260	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
326	326	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
328	328	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
474	560	COMPBIAS	Lys-rich.	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

194 / 194

chromosome

strand

-1

last intron/exon boundary

1553

theoretical NMD boundary in CDS

1309

length of CDS

1407

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)

5730

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

32333955

original gDNA sequence snippet

CAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATA

altered gDNA sequence snippet

CAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSERSKR DYTPSTNSLA LSRSSIALPQ GSMSSIKCLQ TTEEPPSRTA GAMMQFTAPI
PGATGPIKLS QKTIVQTPGP IVQYPGSNAG PPSAPRGPPM APIIISQRTA SQLAAPIIIS
QRTARIPQVH TMDSSGKITL TPVVILTGYM DEELAKKSCS KIQILKCGGT ARSQNSREEN
KEALKNDIIF TNSVESLKSA HIKEPEREGK GTDLEKDKIG MEVKVDSDAG IPKRQETQLK
ISEMSIPQGQ GAQIKKSVSD VPRGQESQVK KSESGVPKGQ EAQVTKSGLV VLKGQEAQVE
KSEMGVPRRQ ESQVKKSQSG VSKGQEAQVK KRESVVLKGQ EAQVEKSELK VPKGQEGQVE
KTEADVPKEQ EVQEKKSEAG VLKGPESQVK NTECFRNKDT LIYHHPEA*

mutated AA sequence

N/A

speed

0.90 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