mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999917724926 (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)

chr19:45912406G>AN/A show variant in all transcripts IGV

HGNC symbol

ERCC1

Ensembl transcript ID

ENST00000300853

Genbank transcript ID

NM_001983

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.2013C>T
g.69681C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2336219

database	homozygous (A/A)	heterozygous	allele carriers
1000G	233	949	1182
ExAC	3123	18675	21798

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.065	0
	-0.278	0
(flanking)	-0.487	0

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

splice sites

splice site change occurs after stopcodon (at aa 476) splice site change occurs after stopcodon (at aa 477) splice site change occurs after stopcodon (at aa 478)

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	69692	wt: 0.38 / mu: 0.46	wt: CTGTGGCATCTTGCTGTTTTTCTTTCTTCGTCTTCTTTTTG mu: CTGTGGCATTTTGCTGTTTTTCTTTCTTCGTCTTCTTTTTG	tttt\|CTTT
Acc increased	69687	wt: 0.29 / mu: 0.49	wt: CTCCACTGTGGCATCTTGCTGTTTTTCTTTCTTCGTCTTCT mu: CTCCACTGTGGCATTTTGCTGTTTTTCTTTCTTCGTCTTCT	gctg\|TTTT
Acc increased	69690	wt: 0.44 / mu: 0.70	wt: CACTGTGGCATCTTGCTGTTTTTCTTTCTTCGTCTTCTTTT mu: CACTGTGGCATTTTGCTGTTTTTCTTTCTTCGTCTTCTTTT	gttt\|TTCT
Acc marginally increased	69677	wt: 0.2340 / mu: 0.2488 (marginal change - not scored)	wt: CTGTCTCTGGCTCCACTGTGGCATCTTGCTGTTTTTCTTTC mu: CTGTCTCTGGCTCCACTGTGGCATTTTGCTGTTTTTCTTTC	gtgg\|CATC

distance from splice site

578

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

593 / 593

chromosome

strand

-1

last intron/exon boundary

1436

theoretical NMD boundary in CDS

793

length of CDS

894

coding sequence (CDS) position

N/A

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

2013

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

69681

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

45912406

original gDNA sequence snippet

CTCTGGCTCCACTGTGGCATCTTGCTGTTTTTCTTTCTTCG

altered gDNA sequence snippet

CTCTGGCTCCACTGTGGCATTTTGCTGTTTTTCTTTCTTCG

original cDNA sequence snippet

CTCTGGCTCCACTGTGGCATCTTGCTGTTTTTCTTTCTTCG

altered cDNA sequence snippet

CTCTGGCTCCACTGTGGCATTTTGCTGTTTTTCTTTCTTCG

wildtype AA sequence

MDPGKDKEGV PQPSGPPARK KFVIPLDEDE VPPGVAKPLF RSTQSLPTVD TSAQAAPQTY
AEYAISQPLE GAGATCPTGS EPLAGETPNQ ALKPGAKSNS IIVSPRQRGN PVLKFVRNVP
WEFGDVIPDY VLGQSTCALF LSLRYHNLHP DYIHGRLQSL GKNFALRVLL VQVDVKDPQQ
ALKELAKMCI LADCTLILAW SPEEAGRYLE TYKAYEQKPA DLLMEKLEQD FVSRVTECLT
TVKSVNKTDS QTLLTTFGSL EQLIAASRED LALCPGLGPQ KARRLFDVLH EPFLKVP*

mutated AA sequence

N/A

speed

0.93 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