mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999836750142 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr20:61870727G>CN/A show variant in all transcripts IGV

HGNC symbol

BIRC7

Ensembl transcript ID

ENST00000395306

Genbank transcript ID

N/A

UniProt peptide

Q96CA5

alteration type

single base exchange

alteration region

intron

DNA changes

g.3493G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1077019

database	homozygous (C/C)	heterozygous	allele carriers
1000G	168	899	1067
ExAC	2309	17862	20171

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.13	0.005
	0.102	0.008
(flanking)	0.738	0.015

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	3497	wt: 0.53 / mu: 0.61	wt: CGAGGCCCAGAGGGC mu: CCAGGCCCAGAGGGC	AGGC\|ccag
Donor marginally increased	3484	wt: 0.9371 / mu: 0.9728 (marginal change - not scored)	wt: GGGTCAGTCCAGCCG mu: GGGTCAGTCCAGCCC	GTCA\|gtcc
Donor gained	3495	0.36	mu: GCCCAGGCCCAGAGG	CCAG\|gccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
90	155	REPEAT	BIR.	might get lost (downstream of altered splice site)
130	132	STRAND		might get lost (downstream of altered splice site)
138	138	MUTAGEN	D->A: Abolishes inhibition of caspases, SMAC binding and anti-apoptotic activity.	might get lost (downstream of altered splice site)
140	147	HELIX		might get lost (downstream of altered splice site)
144	144	METAL	Zinc.	might get lost (downstream of altered splice site)
151	151	METAL	Zinc.	might get lost (downstream of altered splice site)
152	158	HELIX		might get lost (downstream of altered splice site)
160	168	HELIX		might get lost (downstream of altered splice site)
243	249	HELIX		might get lost (downstream of altered splice site)
252	286	ZN_FING	RING-type.	might get lost (downstream of altered splice site)
253	255	TURN		might get lost (downstream of altered splice site)
256	259	STRAND		might get lost (downstream of altered splice site)
262	265	STRAND		might get lost (downstream of altered splice site)
273	275	TURN		might get lost (downstream of altered splice site)
276	278	HELIX		might get lost (downstream of altered splice site)
283	285	TURN		might get lost (downstream of altered splice site)
291	294	STRAND		might get lost (downstream of altered splice site)

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

7 / 7

chromosome

strand

last intron/exon boundary

395

theoretical NMD boundary in CDS

338

length of CDS

582

coding sequence (CDS) position

N/A

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

N/A

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

3493

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

61870727

original gDNA sequence snippet

TAGGAGGGGTCAGTCCAGCCGAGGCCCAGAGGGCGTGGTGG

altered gDNA sequence snippet

TAGGAGGGGTCAGTCCAGCCCAGGCCCAGAGGGCGTGGTGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MPLPWDYPEA PWRRLHSSPP RPCPRALQGG GRRGPNPDPR GSKGLKQTVG ALNPNLHLWG
ICSCQFLLRS KGRDFVHSVQ ETHSQLLGSW DPWEEPEDAA PVAPSVPASG YPELPTPRRE
VQSESAQEPG ARDVEAQLRR LQEERTCKVC LDRAVSIVFV PCGHLVCAEC APGLQLCPIC
RAPVRSRVRT FLS*

mutated AA sequence

N/A

speed

0.13 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