mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.995306172962773 (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)

chr6:116973182T>CN/A show variant in all transcripts IGV

HGNC symbol

ZUP1

Ensembl transcript ID

ENST00000368573

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1210A>G
g.16776A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4946188

database	homozygous (C/C)	heterozygous	allele carriers
1000G	430	1170	1600
ExAC	8138	16491	24629

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.38	0.523
	0.279	0.347
(flanking)	-0.345	0.326

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

splice sites

splice site change occurs after stopcodon (at aa 322)

effect	gDNA position	score	detection sequence	exon-intron border
Donor gained	16775	0.85	mu: GCTTACGACGATTGC	TTAC\|gacg

distance from splice site

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

245 / 245

chromosome

strand

-1

last intron/exon boundary

1037

theoretical NMD boundary in CDS

742

length of CDS

843

coding sequence (CDS) position

N/A

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

1210

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

16776

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

116973182

original gDNA sequence snippet

TATTACAAAATGATGCTTACAACGATTGCTTAAAAGGTATG

altered gDNA sequence snippet

TATTACAAAATGATGCTTACGACGATTGCTTAAAAGGTATG

original cDNA sequence snippet

TATTACAAAATGATGCTTACAACGATTGCTTAAAAG

altered cDNA sequence snippet

TATTACAAAATGATGCTTACGACGATTGCTTAAAAG

wildtype AA sequence

MLSCNICGET VTSEPDMKAH LIVHMESEII CPFCKLSGVN YDEMCFHIET AHFEQNTLER
NFERINTVQY GTSDNKKDNT LQCGMEVNSS ILSGCASNHP KNSAQNLTKD STLKHEGFYS
ENLTESRKFL KSREKQSSLT EIKGSVYETT YSPPECPFCG KIEEHSEDME THVKTKHANL
LDIPLEDCDQ PLYDCPMCGL ICTNYHILQE HVDLHLEENS FQQGMDRVQC SGDLQLAHQL
QQEEDRKRRS EESRQEIEEF QKLQELLKHF IGIIRMLPQM *

mutated AA sequence

N/A

speed

0.97 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