mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 6.48296931947906e-06 (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)

chr6:71238105A>GN/A show variant in all transcripts IGV

HGNC symbol

FAM135A

Ensembl transcript ID

ENST00000370479

Genbank transcript ID

NM_020819

UniProt peptide

Q9P2D6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3086A>G
cDNA.3604A>G
g.115462A>G

AA changes

D1029G Score: 94 explain score(s)

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

1029

frameshift

known variant

Reference ID: rs2747701

database	homozygous (G/G)	heterozygous	allele carriers
1000G	403	893	1296
ExAC	11472	9823	21295

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.885	1
	3.329	0.994
(flanking)	-1.799	0

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
Donor marginally increased	115459	wt: 0.8212 / mu: 0.8316 (marginal change - not scored)	wt: AGAAGAGGATGGTTC mu: AGAAGAGGGTGGTTC	AAGA\|ggat
Donor gained	115456	0.46	mu: AGAAGAAGAGGGTGG	AAGA\|agag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1029

mutated

not conserved

1029

Ptroglodytes

all identical

ENSPTRG00000018330

1046

Mmulatta

all identical

ENSMMUG00000009060

1028

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026153

1233

Ggallus

all identical

ENSGALG00000015969

1232

Trubripes

all conserved

ENSTRUG00000016258

1080

Drerio

all conserved

ENSDARG00000059843

1065

Dmelanogaster

no homologue

Celegans

not conserved

C09D4.4

609

SLVIGDPVV

Xtropicalis

all identical

ENSXETG00000017907

1234

protein features

start (aa)	end (aa)	feature	details
1330	1330	CONFLICT	N -> D (in Ref. 2; CAH18110).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3909 / 3909

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

1303 / 1303

position of stopcodon in wt / mu cDNA

4427 / 4427

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

519 / 519

chromosome

strand

last intron/exon boundary

4222

theoretical NMD boundary in CDS

3653

length of CDS

3909

coding sequence (CDS) position

3086

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

3604

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

115462

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

71238105

original gDNA sequence snippet

TTTTAGTGTAGAAGAAGAGGATGGTTCTGAAGATGGAGTAC

altered gDNA sequence snippet

TTTTAGTGTAGAAGAAGAGGGTGGTTCTGAAGATGGAGTAC

original cDNA sequence snippet

TTTTAGTGTAGAAGAAGAGGATGGTTCTGAAGATGGAGTAC

altered cDNA sequence snippet

TTTTAGTGTAGAAGAAGAGGGTGGTTCTGAAGATGGAGTAC

wildtype AA sequence

MTEVQAMVEF SVELNKFYNV DLFQRGKTFQ ILYKNEEVVL NDVMIFKVKM LLDERKIEET
LEEMNFLLSL DLHFTDGDYS ADDLNALQLI SSRTLKLHFS PHRGLHHHVN VMFDYFHLSV
VSVTVHASLV ALHQPLISFP RPVKTTWLNR NAPAQNKDSV IPTLESVVFG INYTKQLSPD
GCSFIIADSF LHHAYRFHYT LCATLLLAFK GLHSYFITVT EEIPSCQKLE LAKANMQLLY
ERLLRRKQLR TQKDNHLEEM DVEARLTELC EEVKKIENPD ELAELINMNL AQLCSLLMAL
WGQFLEVITL HEELRILLAQ EHHTLRVRRF SEAFFCFEHP REAAIAYQEL HAQSHLQMCT
AIKNTSFCSS LPPLPIECSE LDGDLNSLPI IFEDRYLDSV TEGKLDISQD DSEITQMEHN
LASRRSSDDC HDHQTTPSLG VRTIEIKPSN KDPFSGENIT VKLGPWTELR QEEILVDNLL
PNFESLESNG KSKSIEITFE KEALQEAKCL SIGESLTKLR SNLPAPSTKE YHVVVSGDTI
KLPDISATYA SSRFSDSGVE SEPSSFATHP NTDLVFETVQ GQGPCNSERL FPQLLMKPDY
NVKFSLGNHC TESTSAISEI QSSLTSINSL PSDDELSPDE NSKKSVVPEC HLNDSKTVLN
LGTTDLPKCD DTKKSSITLQ QQSVVFSGNL DNETVAIHSL NSSIKDPLQF VFSDEETSSD
VKSSCSSKPN LDTMCKGFQS PDKSNNSTGT AITLNSKLIC LGTPCVISGS ISSNTDVSED
RTMKKNSDVL NLTQMYSEIP TVESETHLGT SDPFSASTDI VKQGLVENYF GSQSSTDISD
TCAVSYSNAL SPQKETSEKE ISNLQQEQDK EDEEEEQDQQ MVQNGYYEET DYSALDGTIN
AHYTSRDELM EERLTKSEKI NSDYLRDGIN MPTVCTSGCL SFPSAPRESP CNVKYSSKSK
FDAITKQPSS TSYNFTSSIS WYESSPKPQI QAFLQAKEEL KLLKLPGFMY SEVPLLASSV
PYFSVEEEDG SEDGVHLIVC VHGLDGNSAD LRLVKTYIEL GLPGGRIDFL MSERNQNDTF
ADFDSMTDRL LDEIIQYIQI YSLTVSKISF IGHSLGNLII RSVLTRPRFK YYLNKLHTFL
SLSGPHLGTL YNSSALVNTG LWFMQKWKKS GSLLQLTCRD HSDPRQTFLY KLSNKAGLHY
FKNVVLVGSL QDRYVPYHSA RIEMCKTALK DKQSGQIYSE MIHNLLRPVL QSKDCNLVRY
NVINALPNTA DSLIGRAAHI AVLDSEIFLE KFFLVAALKY FQ*

mutated AA sequence

MTEVQAMVEF SVELNKFYNV DLFQRGKTFQ ILYKNEEVVL NDVMIFKVKM LLDERKIEET
LEEMNFLLSL DLHFTDGDYS ADDLNALQLI SSRTLKLHFS PHRGLHHHVN VMFDYFHLSV
VSVTVHASLV ALHQPLISFP RPVKTTWLNR NAPAQNKDSV IPTLESVVFG INYTKQLSPD
GCSFIIADSF LHHAYRFHYT LCATLLLAFK GLHSYFITVT EEIPSCQKLE LAKANMQLLY
ERLLRRKQLR TQKDNHLEEM DVEARLTELC EEVKKIENPD ELAELINMNL AQLCSLLMAL
WGQFLEVITL HEELRILLAQ EHHTLRVRRF SEAFFCFEHP REAAIAYQEL HAQSHLQMCT
AIKNTSFCSS LPPLPIECSE LDGDLNSLPI IFEDRYLDSV TEGKLDISQD DSEITQMEHN
LASRRSSDDC HDHQTTPSLG VRTIEIKPSN KDPFSGENIT VKLGPWTELR QEEILVDNLL
PNFESLESNG KSKSIEITFE KEALQEAKCL SIGESLTKLR SNLPAPSTKE YHVVVSGDTI
KLPDISATYA SSRFSDSGVE SEPSSFATHP NTDLVFETVQ GQGPCNSERL FPQLLMKPDY
NVKFSLGNHC TESTSAISEI QSSLTSINSL PSDDELSPDE NSKKSVVPEC HLNDSKTVLN
LGTTDLPKCD DTKKSSITLQ QQSVVFSGNL DNETVAIHSL NSSIKDPLQF VFSDEETSSD
VKSSCSSKPN LDTMCKGFQS PDKSNNSTGT AITLNSKLIC LGTPCVISGS ISSNTDVSED
RTMKKNSDVL NLTQMYSEIP TVESETHLGT SDPFSASTDI VKQGLVENYF GSQSSTDISD
TCAVSYSNAL SPQKETSEKE ISNLQQEQDK EDEEEEQDQQ MVQNGYYEET DYSALDGTIN
AHYTSRDELM EERLTKSEKI NSDYLRDGIN MPTVCTSGCL SFPSAPRESP CNVKYSSKSK
FDAITKQPSS TSYNFTSSIS WYESSPKPQI QAFLQAKEEL KLLKLPGFMY SEVPLLASSV
PYFSVEEEGG SEDGVHLIVC VHGLDGNSAD LRLVKTYIEL GLPGGRIDFL MSERNQNDTF
ADFDSMTDRL LDEIIQYIQI YSLTVSKISF IGHSLGNLII RSVLTRPRFK YYLNKLHTFL
SLSGPHLGTL YNSSALVNTG LWFMQKWKKS GSLLQLTCRD HSDPRQTFLY KLSNKAGLHY
FKNVVLVGSL QDRYVPYHSA RIEMCKTALK DKQSGQIYSE MIHNLLRPVL QSKDCNLVRY
NVINALPNTA DSLIGRAAHI AVLDSEIFLE KFFLVAALKY FQ*

speed

0.55 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