mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 4.21975279954579e-12 (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)

chr5:179280379T>CN/A show variant in all transcripts IGV

HGNC symbol

MRNIP

Ensembl transcript ID

ENST00000403396

Genbank transcript ID

N/A

UniProt peptide

Q6NTE8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.171A>G
cDNA.189A>G
g.8795A>G

AA changes

no AA changes

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

N/A

frameshift

known variant

Reference ID: rs1650893

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	25523	-18279	7244

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.111	1
	0.284	0.982
(flanking)	0.906	0.976

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	8796	sequence motif lost	-	wt: GCAG\|gtga mu: GCGG.gtga
Acc marginally increased	8800	wt: 0.9383 / mu: 0.9397 (marginal change - not scored)	wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA	gtga\|GTCC
Acc marginally decreased	8796	wt: 0.8480 / mu: 0.8448 (marginal change - not scored)	wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA	gcag\|GTGA
Acc increased	8794	wt: 0.22 / mu: 0.49	wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG	ttgc\|AGGT
Donor marginally increased	8795	wt: 0.9897 / mu: 0.9913 (marginal change - not scored)	wt: TTTGCAGGTGAGTCC mu: TTTGCGGGTGAGTCC	TGCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

no protein features affected

length of protein

normal

AA sequence altered

position of stopcodon in wt / mu CDS

816 / 816

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

272 / 272

position of stopcodon in wt / mu cDNA

834 / 834

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

19 / 19

chromosome

strand

-1

last intron/exon boundary

808

theoretical NMD boundary in CDS

739

length of CDS

816

coding sequence (CDS) position

171

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

189

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

8795

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

179280379

original gDNA sequence snippet

AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA

altered gDNA sequence snippet

AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA

original cDNA sequence snippet

AGAGAAGCAGTCCTTTTTGCAGAGTTCCCCAGACACGGAGC

altered cDNA sequence snippet

AGAGAAGCAGTCCTTTTTGCGGAGTTCCCCAGACACGGAGC

wildtype AA sequence

MQSARAWLPG DCTSRDGVAS AFSGATLLQL PPLPGAPGKK ECQVDMQSLW REAVLFAEFP
RHGAPASELP VPSGSEMDGA ESGKAYGEGS GADCRRHVQK LNLLQGQVSE LPLRSLEETV
SASEEENVGH QQAGNVKQQE KSQPSESRWL KYLEKDSQEL ELEGTGVCFS KQPSSKMEEP
GPRFSQDLPR KRKWSRSTVQ PPCSRGVQDS GGSEVAWGPQ KGQAGLTWKV KQGSSPCLQE
NSADCSAGEL RGPGKELWSP IQQDGYKEIL F*

mutated AA sequence

speed

0.64 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