mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999127272673147 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
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)

chr1:222886119A>GN/A show variant in all transcripts IGV

HGNC symbol

AIDA

Ensembl transcript ID

ENST00000541237

Genbank transcript ID

N/A

UniProt peptide

Q96BJ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.5T>C
cDNA.408T>C
g.434T>C

AA changes

I2T Score: 89 explain score(s)

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

frameshift

known variant

Reference ID: rs3811465

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1475	842	2317
ExAC	3344	1838	5182

regulatory features

H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
H3K36ac, Histone, Histone 3 Lysine 36 Acetylation
H2AZ, Histone, Histone 2A variant Z
SIX5, Transcription Factor, SIX5 Transcription Factor Binding
ATF3, Transcription Factor, ATF3 Transcription Factor Binding
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
USF1, Transcription Factor, USF1 Transcription Factor Binding
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K56ac, Histone, Histone 3 Lysine 56 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.266	0.994
	0.965	0.998
(flanking)	1.228	1

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 increased	426	wt: 0.66 / mu: 0.80	wt: CCGGCGGCCATGATA mu: CCGGCGGCCATGACA	GGCG\|gcca
Donor increased	435	wt: 0.75 / mu: 0.87	wt: ATGATAGCTACCGAG mu: ATGACAGCTACCGAG	GATA\|gcta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no alignment

ENSPTRG00000002010

n/a

Mmulatta

no alignment

ENSMMUG00000015025

n/a

Fcatus

no alignment

ENSFCAG00000002260

n/a

Mmusculus

no alignment

ENSMUSG00000042901

n/a

Ggallus

no alignment

ENSGALG00000009426

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000014532

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000015034

n/a

protein features

start (aa)	end (aa)	feature	details
27	62	COILED	Potential.	might get lost (downstream of altered splice site)
130	130	CONFLICT	E -> G (in Ref. 1; BAB14281).	might get lost (downstream of altered splice site)
144	144	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
154	221	REGION	Axin-binding (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

849 / 849

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

283 / 283

position of stopcodon in wt / mu cDNA

1252 / 1252

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

404 / 404

chromosome

strand

-1

last intron/exon boundary

1156

theoretical NMD boundary in CDS

702

length of CDS

849

coding sequence (CDS) position

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

408

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

434

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

222886119

original gDNA sequence snippet

ACGTGACCCGGCGGCCATGATAGCTACCGAGGCGGTAGTGC

altered gDNA sequence snippet

ACGTGACCCGGCGGCCATGACAGCTACCGAGGCGGTAGTGC

original cDNA sequence snippet

ACGTGACCCGGCGGCCATGATAGCTACCGAGGCGGTAGTGC

altered cDNA sequence snippet

ACGTGACCCGGCGGCCATGACAGCTACCGAGGCGGTAGTGC

wildtype AA sequence

MIATEAVVRA AQGLARHLQK EAQAQHNNSE FTEEQKKTIG KIATCLELRS AALQSTQSQE
EFKLEDLKKL EPILKNILTY NKEFPFDVQP VPLRRILAPG EEENLEFEED EEEGGAGAGS
PDSFPARVPG TLLPRLPSEP GMTLLTIRIE KIGLKDAGQC IDPYITVSVK DLNGIDLTPV
QDTPVASRKE DTYVHFNVDI ELQKHVEKLT KGAAIFFEFK HYKPKKRFTS TKCFAFMEMD
EIKPGPIVIE LYKKPTDFKR KKLQLLTKKP LYLHLHQTLH KE*

mutated AA sequence

MTATEAVVRA AQGLARHLQK EAQAQHNNSE FTEEQKKTIG KIATCLELRS AALQSTQSQE
EFKLEDLKKL EPILKNILTY NKEFPFDVQP VPLRRILAPG EEENLEFEED EEEGGAGAGS
PDSFPARVPG TLLPRLPSEP GMTLLTIRIE KIGLKDAGQC IDPYITVSVK DLNGIDLTPV
QDTPVASRKE DTYVHFNVDI ELQKHVEKLT KGAAIFFEFK HYKPKKRFTS TKCFAFMEMD
EIKPGPIVIE LYKKPTDFKR KKLQLLTKKP LYLHLHQTLH KE*

speed

0.95 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