mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 6.50949668021815e-58 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B-GALNT4

Ensembl transcript ID

ENST00000547474

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1107G>A
g.3229G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

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
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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

splice sites

splice site change occurs after stopcodon (at aa 246) splice site change occurs after stopcodon (at aa 248)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	3231	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	3227	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor marginally increased	3220	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor marginally increased	3222	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor gained	3225	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

640

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

368 / 368

chromosome

strand

-1

last intron/exon boundary

468

theoretical NMD boundary in CDS

length of CDS

129

coding sequence (CDS) position

N/A

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

1107

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

3229

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered cDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

wildtype AA sequence

MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLGKGQADI KN*

mutated AA sequence

N/A

speed

1.23 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