mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.987439626478066 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:37947164G>TN/A show variant in all transcripts IGV

HGNC symbol

SFRP4

Ensembl transcript ID

ENST00000436072

Genbank transcript ID

NM_003014

UniProt peptide

Q6FHJ7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.958C>A
cDNA.1336C>A
g.118134C>A

AA changes

P320T Score: 38 explain score(s)

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

320

frameshift

known variant

Reference ID: rs1802073

database	homozygous (T/T)	heterozygous	allele carriers
1000G	764	1190	1954
ExAC	12116	8535	20651

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.024	0.519
	0.372	0.669
(flanking)	1.718	0.975

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	118126	wt: 0.9965 / mu: 0.9980 (marginal change - not scored)	wt: ACCAAAGGGAAAGCC mu: ACCAAAGGGAAAGAC	CAAA\|ggga
Donor increased	118128	wt: 0.23 / mu: 0.29	wt: CAAAGGGAAAGCCTC mu: CAAAGGGAAAGACTC	AAGG\|gaaa

distance from splice site

103

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

320

mutated

not conserved

320

Ptroglodytes

all identical

ENSPTRG00000019092

317

Mmulatta

all identical

ENSMMUG00000021089

320

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000021319

320

Ggallus

not conserved

ENSGALG00000012073

338

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1041 / 1041

position (AA) of stopcodon in wt / mu AA sequence

347 / 347

position of stopcodon in wt / mu cDNA

1419 / 1419

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

379 / 379

chromosome

strand

-1

last intron/exon boundary

1234

theoretical NMD boundary in CDS

805

length of CDS

1041

coding sequence (CDS) position

958

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

1336

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

118134

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

37947164

original gDNA sequence snippet

CCCCCAAACCAAAGGGAAAGCCTCCTGCTCCCAAACCAGCC

altered gDNA sequence snippet

CCCCCAAACCAAAGGGAAAGACTCCTGCTCCCAAACCAGCC

original cDNA sequence snippet

CCCCCAAACCAAAGGGAAAGCCTCCTGCTCCCAAACCAGCC

altered cDNA sequence snippet

CCCCCAAACCAAAGGGAAAGACTCCTGCTCCCAAACCAGCC

wildtype AA sequence

MFLSILVALC LWLHLALGVR GAPCEAVRIP MCRHMPWNIT RMPNHLHHST QENAILAIEQ
YEELVDVNCS AVLRFFLCAM YAPICTLEFL HDPIKPCKSV CQRARDDCEP LMKMYNHSWP
ESLACDELPV YDRGVCISPE AIVTDLPEDV KWIDITPDMM VQERPLDVDC KRLSPDRCKC
KKVKPTLATY LSKNYSYVIH AKIKAVQRSG CNEVTTVVDV KEIFKSSSPI PRTQVPLITN
SSCQCPHILP HQDVLIMCYE WRSRMMLLEN CLVEKWRDQL SKRSIQWEER LQEQRRTVQD
KKKTAGRTSR SNPPKPKGKP PAPKPASPKK NIKTRSAQKR TNPKRV*

mutated AA sequence

speed

0.68 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