mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 2.04013373683515e-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)

chr5:141019110C>AN/A show variant in all transcripts IGV

HGNC symbol

FCHSD1

Ensembl transcript ID

ENST00000435817

Genbank transcript ID

NM_033449

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.4079G>T
g.11877G>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs14251

database	homozygous (A/A)	heterozygous	allele carriers
1000G	435	1121	1556
ExAC	10624	11519	22143

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.301	1
	2.155	1
(flanking)	3.492	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 1342)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	11868	wt: 0.7315 / mu: 0.7906 (marginal change - not scored)	wt: GCGGCTGCAATGGAG mu: GCGGCTGCAATGGAT	GGCT\|gcaa
Donor marginally increased	11877	wt: 0.9101 / mu: 0.9238 (marginal change - not scored)	wt: ATGGAGGCAAGGGGC mu: ATGGATGCAAGGGGC	GGAG\|gcaa
Donor increased	11872	wt: 0.42 / mu: 0.74	wt: CTGCAATGGAGGCAA mu: CTGCAATGGATGCAA	GCAA\|tgga

distance from splice site

242

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

52 / 52

chromosome

strand

-1

last intron/exon boundary

2059

theoretical NMD boundary in CDS

1957

length of CDS

2073

coding sequence (CDS) position

N/A

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

4079

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

11877

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

141019110

original gDNA sequence snippet

CTTGCTGCGGCTGCAATGGAGGCAAGGGGCTGCAGAGCCCA

altered gDNA sequence snippet

CTTGCTGCGGCTGCAATGGATGCAAGGGGCTGCAGAGCCCA

original cDNA sequence snippet

CTTGCTGCGGCTGCAATGGAGGCAAGGGGCTGCAGAGCCCA

altered cDNA sequence snippet

CTTGCTGCGGCTGCAATGGATGCAAGGGGCTGCAGAGCCCA

wildtype AA sequence

MQPPPRKVKP AQEVKLRFLE QLSILQTWQQ READLLEDIR SYSKQRAAIE REYGQALQKL
AGPFLKREGH RSGEMDSRGR TVFGAWRCLL DATVAGGQTR LQASDRYRDL AGGTGRSAKE
QVLRKGTENL QRAQAEVLQS VRELSRSRKL YGQRERVWAL AQEKAADVQA RLNRSDHGIF
HSRTSLQKLS TKLSAQSAQY SQQLQAARNE YLLNLVATNA HLDHYYQEEL PALLKALVSE
LSEHLRDPLT SLSHTELEAA EVILEHAHRG EQTTSQVSWE QDLKLFLQEP GVFSPTPPQQ
FQPAGTDQVC VLEWGAEGVA GKSGLEKEVQ RLTSRAARDY KIQNHGHRVL QRLEQRRQQA
SEREAPSIEQ RLQEVRESIR RAQVSQVKGA ARLALLQGAG LDVERWLKPA MTQAQDEVEQ
ERRLSEARLS QRDLSPTAED AELSDFEECE ETGELFEEPA PQALATRALP CPAHVVFRYQ
AGREDELTIT EGEWLEVIEE GDADEWVKAR NQHGEVGFVP ERYLNFPDLS LPESSQDSDN
PCGAEPTAFL AQALYSYTGQ SAEELSFPEG ALIRLLPRAQ DGVDDGFWRG EFGGRVGVFP
SLLVEELLGP PGPPELSDPE QMLPSPSPPS FSPPAPTSVL DGPPAPVLPG DKALDFPGFL
DMMAPRLRPM RPPPPPPAKA PDPGHPDPLT *

mutated AA sequence

N/A

speed

1.16 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