mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.33488416388006e-05 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58572979G>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF135

Ensembl transcript ID

ENST00000506786

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.493G>A
g.2373G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1469087

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1618	683	2301
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.468	0.839
	0.134	0.843
(flanking)	-0.065	0.86

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
Donor marginally increased	2378	wt: 0.9789 / mu: 0.9810 (marginal change - not scored)	wt: GCTTCAGCCAGGAGG mu: ACTTCAGCCAGGAGG	TTCA\|gcca

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

555 / 555

chromosome

strand

last intron/exon boundary

685

theoretical NMD boundary in CDS

length of CDS

1851

coding sequence (CDS) position

N/A

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

493

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

2373

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

58572979

original gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

original cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

wildtype AA sequence

MLDTFRLLVS VGHWLPKPNV ISLLEQEAEL WAVESRLPQG VYPDLETRPK VKLSVLKQGI
SEEISNSVIL VERFLWDGLW YCRGEDTEGH WEWSCESLES LAVPVAFTPV KTPVLEQWQR
NGFGENISLN PDLPHQPMTP ERQSPHTWGT RGKREKPDLN VLQKTCVKEK PYKCQECGKA
FSHSSALIEH HRTHTGERPY ECHECLKGFR NSSALTKHQR IHTGEKPYKC TQCGRTFNQI
APLIQHQRTH TGEKPYECSE CGKSFSFRSS FSQHERTHTG EKPYECSECG KAFRQSIHLT
QHLRIHTGEK PYQCGECGKA FSHSSSLTKH QRIHTGEKPY ECHECGKAFT QITPLIQHQR
THTGEKPYEC GECGKAFSQS TLLTEHRRIH TGEKPYGCNE CGKTFSHSSS LSQHERTHTG
EKPYECSQCG KAFRQSTHLT QHQRIHTGEK PYECNDCGKA FSHSSSLTKH QRIHTGEKPY
ECNQCGRAFS QLAPLIQHQR IHTGEKPYEC NQCGRAFSQS SLLIEHQRIH TKEKPYGCNE
CGKSFSHSSS LSQHERTHTG EKPYECHDCG KSFRQSTHLT QHRRIHTGEK PYACRDCGKA
FTHSSSLTKH QRTHTG*

mutated AA sequence

N/A

speed

0.62 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