mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 6.50949668021815e-58 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B

Ensembl transcript ID

ENST00000549035

Genbank transcript ID

NM_001199777

UniProt peptide

Q8TC44

alteration type

single base exchange

alteration region

intron

DNA changes

g.2991G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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

splice sites

splice site change before start ATG (at aa -8) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	2984	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	2989	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor increased	2993	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	2982	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor gained	2987	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

2086

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
16	55	REPEAT	WD 1.	might get lost (downstream of altered splice site)
58	99	REPEAT	WD 2.	might get lost (downstream of altered splice site)
101	139	REPEAT	WD 3.	might get lost (downstream of altered splice site)
142	181	REPEAT	WD 4.	might get lost (downstream of altered splice site)
183	223	REPEAT	WD 5.	might get lost (downstream of altered splice site)
226	265	REPEAT	WD 6.	might get lost (downstream of altered splice site)
268	307	REPEAT	WD 7.	might get lost (downstream of altered splice site)
321	321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
370	375	COMPBIAS	Poly-Thr.	might get lost (downstream of altered splice site)
414	414	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
431	470	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

471 / 471

chromosome

strand

-1

last intron/exon boundary

1677

theoretical NMD boundary in CDS

1156

length of CDS

1311

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)

2991

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLWNFKPHAR AYRYVGHKDV VTSVQFSPHG NLLASASRDR TVRLWIPDKR GKFSEFKAHT
APVRSVDFSA DGQFLATASE DKSIKVWSMY RQRFLYSLYR HTHWVRCAKF SPDGRLIVSC
SEDKTIKIWD TTNKQCVNNF SDSVGFANFV DFNPSGTCIA SAGSDQTVKV WDVRVNKLLQ
HYQVHSGGVN CISFHPSGNY LITASSDGTL KILDLLEGRL IYTLQGHTGP VFTVSFSKGG
ELFASGGADT QVLLWRTNFD ELHCKGLTKR NLKRLHFDSP PHLLDIYPRT PHPHEEKVET
VEINPKLEVI DLQISTPPVM DILSFDSTTT TETSGRTLPD KGEEACGYFL NPSLMSPECL
PTTTKKKTED MSDLPCESQR SIPLAVTDAL EHIMEQLNVL TQTVSILEQR LTLTEDKLKD
CLENQQKLFS AVQQKS*

mutated AA sequence

N/A

speed

0.47 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