mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 6.71190891345765e-19 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:24909475C>GN/A show variant in all transcripts IGV

HGNC symbol

KHNYN

Ensembl transcript ID

ENST00000251343

Genbank transcript ID

NM_015299

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.5160C>G
g.10984C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3211056

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1542	748	2290
ExAC	-	-	-

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.034	1
	2.149	1
(flanking)	2.357	1

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

splice sites

splice site change occurs after stopcodon (at aa 1671)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	10981	wt: 0.9950 / mu: 0.9959 (marginal change - not scored)	wt: GCAGCACCCAAGGTC mu: GCAGCACCGAAGGTC	AGCA\|ccca
Donor gained	10978	0.52	mu: AGGGCAGCACCGAAG	GGCA\|gcac

distance from splice site

1066

Kozak consensus sequence altered?

N/A

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

140 / 140

chromosome

strand

last intron/exon boundary

1927

theoretical NMD boundary in CDS

1737

length of CDS

2037

coding sequence (CDS) position

N/A

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

5160

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

10984

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

24909475

original gDNA sequence snippet

CGGCGGCCCAGGGCAGCACCCAAGGTCTGGGCAAACTCAGC

altered gDNA sequence snippet

CGGCGGCCCAGGGCAGCACCGAAGGTCTGGGCAAACTCAGC

original cDNA sequence snippet

CGGCGGCCCAGGGCAGCACCCAAGGTCTGGGCAAACTCAGC

altered cDNA sequence snippet

CGGCGGCCCAGGGCAGCACCGAAGGTCTGGGCAAACTCAGC

wildtype AA sequence

MPTWGARPAS PDRFAVSAEA ENKVREQQPH VERIFSVGVS VLPKDCPDNP HIWLQLEGPK
ENASRAKEYL KGLCSPELQD EIHYPPKLHC IFLGAQGFFL DCLAWSTSAH LVPRAPGSLM
ISGLTEAFVM AQSRVEELAE RLSWDFTPGP SSGASQCTGV LRDFSALLQS PGDAHREALL
QLPLAVQEEL LSLVQEASSG QGPGALASWE GRSSALLGAQ CQGVRAPPSD GRESLDTGSM
GPGDCRGARG DTYAVEKEGG KQGGPREMDW GWKELPGEEA WEREVALRPQ SVGGGARESA
PLKGKALGKE EIALGGGGFC VHREPPGAHG SCHRAAQSRG ASLLQRLHNG NASPPRVPSP
PPAPEPPWHC GDRGDCGDRG DVGDRGDKQQ GMARGRGPQW KRGARGGNLV TGTQRFKEAL
QDPFTLCLAN VPGQPDLRHI VIDGSNVAMV HGLQHYFSSR GIAIAVQYFW DRGHRDITVF
VPQWRFSKDA KVRESHFLQK LYSLSLLSLT PSRVMDGKRI SSYDDRFMVK LAEETDGIIV
SNDQFRDLAE ESEKWMAIIR ERLLPFTFVG NLFMVPDDPL GRNGPTLDEF LKKPARTQGS
SKAQHPSRGF AEHGKQQQGR EEEKGSGGIR KTRETERLRR QLLEVFWGQD HKVDFILQRE
PYCRDINQLS EALLSLNF*

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