mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999178503038 (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)

chr19:868115C>TN/A show variant in all transcripts IGV

HGNC symbol

MED16

Ensembl transcript ID

ENST00000312090

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.2967G>A
g.25104G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs13090

database	homozygous (T/T)	heterozygous	allele carriers
1000G	213	775	988
ExAC	4072	20657	24729

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.653	0.015
	-0.179	0.008
(flanking)	-0.243	0.005

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

splice sites

splice site change occurs after stopcodon (at aa 946)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	25100	wt: 0.81 / mu: 0.94	wt: CTGCATCCAGAGGAC mu: CTGCATCCAAAGGAC	GCAT\|ccag
Donor marginally increased	25105	wt: 0.9235 / mu: 0.9555 (marginal change - not scored)	wt: TCCAGAGGACCGTCC mu: TCCAAAGGACCGTCC	CAGA\|ggac

distance from splice site

155

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

127 / 127

chromosome

strand

-1

last intron/exon boundary

2583

theoretical NMD boundary in CDS

2406

length of CDS

2583

coding sequence (CDS) position

N/A

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

2967

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

25104

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

868115

original gDNA sequence snippet

CCCTGGACCATCTGCATCCAGAGGACCGTCCGTGACGGCCG

altered gDNA sequence snippet

CCCTGGACCATCTGCATCCAAAGGACCGTCCGTGACGGCCG

original cDNA sequence snippet

CCCTGGACCATCTGCATCCAGAGGACCGTCCGTGACGGCCG

altered cDNA sequence snippet

CCCTGGACCATCTGCATCCAAAGGACCGTCCGTGACGGCCG

wildtype AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV
VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICF PSTGPCSVWV LLGWQPLPGR
DEGPASEPDE ALVDECCLLP SQLLIPSLDW LPASDGLVSR LQPKQPLRLQ FGRAPTLPGS
AATLQLDGLA RAPGQPKIDH LRRLHLGACP TEECKACTRC GCVTMLKSPN RTTAVKQWEQ
RWIKNCLCGG LWWRVPLSYP *

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