mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 7.13689471653069e-05 (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)

chr11:60531346T>GN/A show variant in all transcripts IGV

HGNC symbol

MS4A15

Ensembl transcript ID

ENST00000337911

Genbank transcript ID

NM_152717

UniProt peptide

Q8N5U1

alteration type

single base exchange

alteration region

intron

DNA changes

g.6921T>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1032939

database	homozygous (G/G)	heterozygous	allele carriers
1000G	544	945	1489
ExAC	13392	5983	19375

regulatory features

CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
EBF, Transcription Factor, EBF Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.057	0.466
	1.314	0.469
(flanking)	-0.81	0.432

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

splice sites

splice site change before start ATG (at aa -6) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	6918	wt: 0.21 / mu: 0.49	wt: GCCACCGCTGGGGGC mu: GCCACCGCGGGGGGC	CACC\|gctg
Donor increased	6912	wt: 0.58 / mu: 0.82	wt: TGAGGAGCCACCGCT mu: TGAGGAGCCACCGCG	AGGA\|gcca
Donor gained	6920	0.62	mu: CACCGCGGGGGGCAC	CCGC\|gggg

distance from splice site

3694

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
73	93	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
100	120	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
144	164	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
173	193	TRANSMEM	Helical; (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

77 / 77

chromosome

strand

last intron/exon boundary

410

theoretical NMD boundary in CDS

283

length of CDS

444

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)

6921

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

60531346

original gDNA sequence snippet

GCAGTTTGAGGAGCCACCGCTGGGGGCACAGACACCAAGGG

altered gDNA sequence snippet

GCAGTTTGAGGAGCCACCGCGGGGGGCACAGACACCAAGGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVRRGHVGIF FIEGGVPFWG GACFIISGSL SVAAEKNHTS CLVRSSLGTN ILSVMAAFAG
TAILLMDFGV TNRDVDRGYL AVLTIFTVLE FFTAVIAMHF GCQAIHAQAS APVIFLPNAF
SADFNIPSPA ASAPPAYDNV AYAQGVV*

mutated AA sequence

N/A

speed

0.75 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