mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGB6

Ensembl transcript ID

ENST00000520790

Genbank transcript ID

NM_018926

UniProt peptide

Q9Y5F9

alteration type

single base exchange

alteration region

intron

DNA changes

g.5238A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

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 gained	5247	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	5232	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

2820

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
713	930	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

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

1 / 1

chromosome

strand

last intron/exon boundary

2567

theoretical NMD boundary in CDS

2516

length of CDS

2793

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)

5238

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

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGGSCAQRRR AGPRQVLFPL LLPLFYPTLS EPIRYSIPEE LAKGSVVGNL AKDLGLSVLD
VSARKLRVSA EKLHFSVDAE SGDLLVKNRI DREQICKERR RCELQLEAVV ENPLNIFHVI
VVIEDVNDHA PQFDKKEIHL EIFESASAGT RLSLDPATDP DININSIKDY KINSNPYFSL
MVRVNSDGGK YPELSLEKLL DREEQRSHSL ILTALDGGDP PRSATAHIEI SVKDTNDNPP
VFSRDEYRIS LSENLPPGSP VLQVTATDQD EGVNAEINYY FRSTAQSTKH MFSLDEKTGM
IKNNQSFDFE DVERYTMEVE AKDGGGLSTQ CKVIIEILDE NDNSPEIIIT SLSDQILENS
PPGMVVALFK TRDLDFGGNG EVRCNIETDI PFKIYSSSNN YYKLVTDGAL DREQTPEYNV
TIVATDRGKP PLSSSRSITL YVADINDNAP VFDQTSYVVH VAENNPPGAS IAQVSASDPD
LGLNGHISYS IVASDLEPLA VSSYVSVSAQ SGVVFAQRAF DHEQLRAFAL TLQARDHGSP
TLSANVSLRV LVGDRNDNAP RVLYPALGPD GSAFFDMVPR SAEPGYLVTK VVAVDADSGH
NAWLSYHVLQ ASEPGLFSLG LRTGEVRTAR ALGDRDAARQ RLLVAVRDGG QPPLSATATL
HLVFADNLQE ILPDLSDRPV LSDPQAELQF YLVVALALIS VLFLLAVILA IALRLRRSLS
PATWDCFHPG LCVKSGPVVP PNYSEGTLPY SYNLCIAHTG TKEFNFLKCS VPLHSNEDMV
CSVSPGALIP PHGGEDLTSH PETLTSQAPP NTDWRFSQAQ RPGTSGSQNG DDTGTWPNNQ
FDTEMLQAMI LASASEAADG SSTLGGGAGT MGLSARYGPQ FTLQHVPDYR QNVYIPGSNA
TLTNAAGKRD GKAPAGGNGN KKKSGKKEKK *

mutated AA sequence

N/A

speed

1.07 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