mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.00138553888917641 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
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)

chr5:122718736G>CN/A show variant in all transcripts IGV

HGNC symbol

CEP120

Ensembl transcript ID

ENST00000306481

Genbank transcript ID

NM_001166226

UniProt peptide

Q8N960

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1726C>G
cDNA.1839C>G
g.40551C>G

AA changes

L576V Score: 32 explain score(s)

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

576

frameshift

known variant

Reference ID: rs6595440

database	homozygous (C/C)	heterozygous	allele carriers
1000G	448	1169	1617
ExAC	10557	11653	22210

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.1	0.969
	0.356	0.959
(flanking)	0.037	0.959

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 increased	40543	wt: 0.55 / mu: 0.70	wt: GATAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATG mu: GATAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATG	acac\|AGTG
Acc marginally increased	40544	wt: 0.4020 / mu: 0.4194 (marginal change - not scored)	wt: ATAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATGG mu: ATAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATGG	caca\|GTGA
Acc marginally increased	40545	wt: 0.2478 / mu: 0.2516 (marginal change - not scored)	wt: TAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATGGA mu: TAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATGGA	acag\|TGAC
Donor marginally increased	40548	wt: 0.4529 / mu: 0.5220 (marginal change - not scored)	wt: CAGTGACTCTAGAAG mu: CAGTGACTGTAGAAG	GTGA\|ctct
Donor marginally increased	40544	wt: 0.8801 / mu: 0.8949 (marginal change - not scored)	wt: TACACAGTGACTCTA mu: TACACAGTGACTGTA	CACA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

576

mutated

all conserved

576

Ptroglodytes

all identical

ENSPTRG00000017181

602

Mmulatta

all identical

ENSMMUG00000015767

113

Fcatus

no alignment

ENSFCAG00000005023

n/a

Mmusculus

all identical

ENSMUSG00000048799

605

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000011326

614

Drerio

all identical

ENSDARG00000091326

635

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010260

617

protein features

start (aa)	end (aa)	feature	details
669	925	COILED	Potential.	might get lost (downstream of altered splice site)
785	785	CONFLICT	Q -> L (in Ref. 3; BAC04596).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2883 / 2883

position (AA) of stopcodon in wt / mu AA sequence

961 / 961

position of stopcodon in wt / mu cDNA

2996 / 2996

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

114 / 114

chromosome

strand

-1

last intron/exon boundary

2762

theoretical NMD boundary in CDS

2598

length of CDS

2883

coding sequence (CDS) position

1726

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

1839

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

40551

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

122718736

original gDNA sequence snippet

ATCTTTCTTACACAGTGACTCTAGAAGATTATGGACTAGTA

altered gDNA sequence snippet

ATCTTTCTTACACAGTGACTGTAGAAGATTATGGACTAGTA

original cDNA sequence snippet

ATCTTTCTTACACAGTGACTCTAGAAGATTATGGACTAGTA

altered cDNA sequence snippet

ATCTTTCTTACACAGTGACTGTAGAAGATTATGGACTAGTA

wildtype AA sequence

MLVVEAKFDG EQLATDPVDH TDQPEFATEL AWEIDRKALH QHRLQRTPIK LQCFALDPVT
SAKETIGYIV LDLRTAQETK QAPKWYQLLS NKYTKFKSEI QISIALETDT KPPVDSFKAK
GAPPRDGKVP AILAGLDPRD IVAVLNEEGG YHQIGPAEYC TDSFIMSVTI AFATQLEQLI
PCTMKLPERQ PEFFFYYSLL GNDVTNEPFN DLINPNFEPE RASVRIRSSV EILRVYLALQ
SKLQIHLCCG DQSLGSTEIP LTGLLKKGST EINQHPVTVE GAFTLDPPNR AKQKLAPIPV
ELAPTVGVSV ALQREGIDSQ SLIELKTQNE HEPEHSKKKV LTPIKEKTLT GPKSPTVSPV
PSHNQSPPTK DDATESEVES LQYDKDTKPN PKASSSVPAS LAQLVTTSNA SEVASGQKIA
VPATSHHFCF SIDLRSIHAL EIGFPINCIL RYSYPFFGSA APIMTNPPVE VRKNMEVFLP
QSYCAFDFAT MPHQLQDTFL RIPLLVELWH KDKMSKDLLL GIARIQLSNI LSSEKTRFLG
SNGEQCWRQT YSESVPVIAA QGSNNRIADL SYTVTLEDYG LVKMREIFIS DSSQGVSAVQ
QKPSSLPPAP CPSEIQTEPR ETLEYKAALE LEMWKEMQED IFENQLKQKE LAHMQALAEE
WKKRDRERES LVKKKVAEYT ILEGKLQKTL IDLEKREQQL ASVESELQRE KKELQSERQR
NLQELQDSIR RAKEDCIHQV ELERLKIKQL EEDKHRLQQQ LNDAENKYKI LEKEFQQFKD
QQNNKPEIRL QSEINLLTLE KVELERKLES ATKSKLHYKQ QWGRALKELA RLKQREQESQ
MARLKKQQEE LEQMRLRYLA AEEKDTVKTE RQELLDIRNE LNRLRQQEQK QYQDSTEIAS
GKKDGPHGSV LEEGLDDYLT RLIEERDTLM RTGVYNHEDR IISELDRQIR EILAKSNASN
*

mutated AA sequence

MLVVEAKFDG EQLATDPVDH TDQPEFATEL AWEIDRKALH QHRLQRTPIK LQCFALDPVT
SAKETIGYIV LDLRTAQETK QAPKWYQLLS NKYTKFKSEI QISIALETDT KPPVDSFKAK
GAPPRDGKVP AILAGLDPRD IVAVLNEEGG YHQIGPAEYC TDSFIMSVTI AFATQLEQLI
PCTMKLPERQ PEFFFYYSLL GNDVTNEPFN DLINPNFEPE RASVRIRSSV EILRVYLALQ
SKLQIHLCCG DQSLGSTEIP LTGLLKKGST EINQHPVTVE GAFTLDPPNR AKQKLAPIPV
ELAPTVGVSV ALQREGIDSQ SLIELKTQNE HEPEHSKKKV LTPIKEKTLT GPKSPTVSPV
PSHNQSPPTK DDATESEVES LQYDKDTKPN PKASSSVPAS LAQLVTTSNA SEVASGQKIA
VPATSHHFCF SIDLRSIHAL EIGFPINCIL RYSYPFFGSA APIMTNPPVE VRKNMEVFLP
QSYCAFDFAT MPHQLQDTFL RIPLLVELWH KDKMSKDLLL GIARIQLSNI LSSEKTRFLG
SNGEQCWRQT YSESVPVIAA QGSNNRIADL SYTVTVEDYG LVKMREIFIS DSSQGVSAVQ
QKPSSLPPAP CPSEIQTEPR ETLEYKAALE LEMWKEMQED IFENQLKQKE LAHMQALAEE
WKKRDRERES LVKKKVAEYT ILEGKLQKTL IDLEKREQQL ASVESELQRE KKELQSERQR
NLQELQDSIR RAKEDCIHQV ELERLKIKQL EEDKHRLQQQ LNDAENKYKI LEKEFQQFKD
QQNNKPEIRL QSEINLLTLE KVELERKLES ATKSKLHYKQ QWGRALKELA RLKQREQESQ
MARLKKQQEE LEQMRLRYLA AEEKDTVKTE RQELLDIRNE LNRLRQQEQK QYQDSTEIAS
GKKDGPHGSV LEEGLDDYLT RLIEERDTLM RTGVYNHEDR IISELDRQIR EILAKSNASN
*

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