mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999902624613 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:46946157C>TN/A show variant in all transcripts IGV

HGNC symbol

RUBCNL

Ensembl transcript ID

ENST00000409879

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.66169G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1408184

database	homozygous (T/T)	heterozygous	allele carriers
1000G	544	1173	1717
ExAC	9029	14709	23738

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.388	0.004
	-0.008	0
(flanking)	-0.613	0

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
Acc marginally increased	66159	wt: 0.6242 / mu: 0.6628 (marginal change - not scored)	wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC	gccc\|ACAA

distance from splice site

3207

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

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1062 / 1062

chromosome

strand

-1

last intron/exon boundary

2467

theoretical NMD boundary in CDS

1355

length of CDS

1518

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)

66169

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

46946157

original gDNA sequence snippet

TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA

altered gDNA sequence snippet

TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVSNHYFLLC VNLPLREIHT PGAVQVSRRT ISSNSFSPEV FVLPVDVEKE NAHFYVADMI
ISAMEKMKCN ILSQQQTESW SKEVSGLLGS DQPDSEMTFD TNIKQESGSS TSSYSGYEGN
AVLQVSPVTE TRTYHDVKEI CKCDVDEFVI LELGDFNDIT ETCSCSCSSS KSVTYEPDFN
SAELLAKELY RVFQKCWILS VVNSQLAGSL SAAGSIVVNE ECVRKDFESS MNVVQEIKFK
SRIRGTEDWA PPRFQIIFNI HPPLKRDLVV AAQNFFCAGC GTPVEPKFVK RLRYCEYLGK
YFCDCCHSYA ESCIPARILM MWDFKKYYVS NFSKQLLDSI WHQPIFNLLS IGQSLYAKAK
ELDRVKEIQE QLFHIKKLLK TCRFANSALK EFEQVPGHLT DELHLFSLED LVRIKKGLLA
PLLKDILKAS LAHVAGCELC QGKGFICEFC QNTTVIFPFQ TATCRRCSAC RACFHKQCFQ
SSECPRCARI TARRKLLESV ASAAT*

mutated AA sequence

N/A

speed

0.73 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