mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM960103)
known disease mutation: rs3023 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:108199929T>GN/A show variant in all transcripts IGV

HGNC symbol

C11orf65

Ensembl transcript ID

ENST00000525729

Genbank transcript ID

N/A

UniProt peptide

Q8NCR3

alteration type

single base exchange

alteration region

intron

DNA changes

g.138330A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs28904921

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	3	3

known disease mutation: rs3023 (pathogenic for Breast neoplasm|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Ataxia-telangiectasia variant|T-cell prolymphocytic leukemia|Breast cancer, susceptibility to|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960103)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960103)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960103)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.447	1
	5.047	1
(flanking)	0.523	1

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 marginally increased	138323	wt: 0.4553 / mu: 0.4638 (marginal change - not scored)	wt: TGAATTTTATGTTCCCTAAGGAGACCTACTTCCTCTTTGGC mu: TGAATTTTATGTTCCCTAAGGAGACCTCCTTCCTCTTTGGC	aagg\|AGAC
Acc marginally increased	138320	wt: 0.2874 / mu: 0.3191 (marginal change - not scored)	wt: GTCTGAATTTTATGTTCCCTAAGGAGACCTACTTCCTCTTT mu: GTCTGAATTTTATGTTCCCTAAGGAGACCTCCTTCCTCTTT	ccta\|AGGA
Acc increased	138340	wt: 0.55 / mu: 0.89	wt: AAGGAGACCTACTTCCTCTTTGGCTCTTTTCAGGAGAGCTT mu: AAGGAGACCTCCTTCCTCTTTGGCTCTTTTCAGGAGAGCTT	cttt\|GGCT
Acc increased	138338	wt: 0.27 / mu: 0.59	wt: CTAAGGAGACCTACTTCCTCTTTGGCTCTTTTCAGGAGAGC mu: CTAAGGAGACCTCCTTCCTCTTTGGCTCTTTTCAGGAGAGC	ctct\|TTGG
Acc increased	138341	wt: 0.60 / mu: 0.85	wt: AGGAGACCTACTTCCTCTTTGGCTCTTTTCAGGAGAGCTTG mu: AGGAGACCTCCTTCCTCTTTGGCTCTTTTCAGGAGAGCTTG	tttg\|GCTC
Acc marginally increased	138321	wt: 0.8589 / mu: 0.8918 (marginal change - not scored)	wt: TCTGAATTTTATGTTCCCTAAGGAGACCTACTTCCTCTTTG mu: TCTGAATTTTATGTTCCCTAAGGAGACCTCCTTCCTCTTTG	ctaa\|GGAG
Donor marginally increased	138321	wt: 0.6168 / mu: 0.6178 (marginal change - not scored)	wt: CCCTAAGGAGACCTA mu: CCCTAAGGAGACCTC	CTAA\|ggag

distance from splice site

20131

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

no protein features affected

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

71 / 71

chromosome

strand

-1

last intron/exon boundary

711

theoretical NMD boundary in CDS

590

length of CDS

741

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)

138330

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

108199929

original gDNA sequence snippet

TATGTTCCCTAAGGAGACCTACTTCCTCTTTGGCTCTTTTC

altered gDNA sequence snippet

TATGTTCCCTAAGGAGACCTCCTTCCTCTTTGGCTCTTTTC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MPWKEESEFT KQDKAARVIQ QAWKSFLVKF PPDIYYKIFT HRPIEDLCAN SPRNYAKLPA
KHTSHNKNDH LQEEDHSGWY HRIENNGWRP VSDTFWLSTD GMVVEDKKES EFHFSKLKRR
QDLEKKRKLR KIEWMRQMYY SGSLEAKSTH HETLGLIHTA TKGLIRAFED GGIDSVMEWE
VDEVLNWTNT LNFDEYIASW KEIATSNSSA NFKGIFFRIL FSIKMEYEEF LSSPTPANVN
TILPQW*

mutated AA sequence

N/A

speed

0.78 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