mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.0725548146448179 (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)

chr4:38879949G>AN/A show variant in all transcripts IGV

HGNC symbol

FAM114A1

Ensembl transcript ID

ENST00000515037

Genbank transcript ID

N/A

UniProt peptide

Q8IWE2

alteration type

single base exchange

alteration region

intron

DNA changes

g.10652G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs11096964

database	homozygous (A/A)	heterozygous	allele carriers
1000G	124	770	894
ExAC	4092	21824	25916

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.397	0.143
	0.593	0.52
(flanking)	1.098	0.817

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

splice sites

splice site change before start ATG (at aa -90) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	10649	wt: 0.53 / mu: 0.63	wt: ACGCCCTGGAGCCCCCTCTCAATGGAGACGTGACTGAGGAT mu: ACGCCCTGGAGCCCCCTCTCAATAGAGACGTGACTGAGGAT	ctca\|ATGG
Acc marginally increased	10653	wt: 0.5736 / mu: 0.5981 (marginal change - not scored)	wt: CCTGGAGCCCCCTCTCAATGGAGACGTGACTGAGGATACAC mu: CCTGGAGCCCCCTCTCAATAGAGACGTGACTGAGGATACAC	atgg\|AGAC
Donor increased	10654	wt: 0.79 / mu: 0.96	wt: AATGGAGACGTGACT mu: AATAGAGACGTGACT	TGGA\|gacg
Donor marginally increased	10652	wt: 0.9956 / mu: 0.9982 (marginal change - not scored)	wt: TCAATGGAGACGTGA mu: TCAATAGAGACGTGA	AATG\|gaga

distance from splice site

10494

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
196	196	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
199	199	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
343	367	COILED	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

358 / 358

chromosome

strand

last intron/exon boundary

1327

theoretical NMD boundary in CDS

919

length of CDS

1071

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)

10652

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

38879949

original gDNA sequence snippet

CCCTGGAGCCCCCTCTCAATGGAGACGTGACTGAGGATACA

altered gDNA sequence snippet

CCCTGGAGCCCCCTCTCAATAGAGACGTGACTGAGGATACA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLSAITNVVQ NTGKSVLTGG LDALEFIGKK TMNVLAESDP GFKRTKTLME RTVSLSQMLR
EAKEKEKQRL AQQLTMERTA HYGMLFDEYQ GLSHLEALEI LSNESESKVQ SFLASLDGEK
LELLKNDLIS IKDIFAAKEL ENEENQEEQG LEEKGEEFAR MLTELLFELH VAATPDKLNK
AMKRAHDWVE EDQTVVSVDV AKVSEEETKK EEKEEKSQDP QEDKKEEKKT KTIEEVYMSS
IESLAEVTAR CIEQLHKVAE LILHGQEEEK PAQDQAKVLI KLTTAMCNEV ASLSKKFTNS
LTTVGSNKKA EVLNPMISSV LLEGCNSTTY IQDAFQLLLP VLQVSHIQTS CLKAQP*

mutated AA sequence

N/A

speed

0.59 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