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

ENST00000505868

Genbank transcript ID

N/A

UniProt peptide

Q9P2D6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3725A>G
cDNA.3725A>G
g.115462A>G

AA changes

D1242G Score: 94 explain score(s)

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

1242

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

1242

mutated

not conserved

1242

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

1235

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

4410 / 4410

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

1470 / 1470

position of stopcodon in wt / mu cDNA

4410 / 4410

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

1 / 1

chromosome

strand

last intron/exon boundary

4229

theoretical NMD boundary in CDS

4178

length of CDS

4410

coding sequence (CDS) position

3725

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

3725

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 DLFQRGFYQI RASMKIPSRI PHRVEASLLH ATGMTLAFPA
SVHDSLICSK TFQILYKNEE VVLNDVMIFK VKMLLDERKI EETLEEMNFL LSLDLHFTDG
DYSADDLNAL QLISSRTLKL HFSPHRGLHH HVNVMFDYFH LSVVSVTVHA SLVALHQPLI
SFPRPVKTTW LNRNAPAQNK DSVIPTLESV VFGINYTKQL SPDGCSFIIA DSFLHHAYRF
HYTLCATLLL AFKGLHSYFI TVTEEIPSCQ KLELEEMDVE ARLTELCEEV KKIENPDELA
ELINMNLAQL CSLLMALWGQ FLEVITLHEE LRILLAQEHH TLRVRRFSEA FFCFEHPREA
AIAYQELHAQ SHLQMCTAIK NTSFCSSLPP LPIECSELDG DLNSLPIIFE DRYLDSVTED
LDAPWMGIQN LQRSESSKMD KYETEESSVA GLSSPELKVR PAGASSIWYT EGEKQLTKSL
KGKNEESNKS KVKVTKLMKT MKSENTKKLI KQNSKDSVVL VGYKCLKSTA SNDLIKCFEG
NPSHSQKEGL DPTICGYNFD PKTYMRQTSQ KEASCLPTNT ERTEQKSPDI ENVQPDQFDP
LNSGNLNLCA NLSISGKLDI SQDDSEITQM EHNLASRRSS DDCHDHQTTP SLGVRTIEIK
PSNKDPFSGE NITVKLGPWT ELRQEEILVD NLLPNFESLE SNGKSKSIEI TFEKEALQEA
KCLSIGESLT KLRSNLPAPS TKEYHVVVSG DTIKLPDISA TYASSRFSDS GVESEPSSFA
THPNTDLVFE TVQGQGPCNS ERLFPQLLMK PDYNVKFSLG NHCTESTSAI SEIQSSLTSI
NSLPSDDELS PDENSKKSVV PECHLNDSKT VLNLGTTDLP KCDDTKKSSI TLQQQSVVFS
GNLDNETVAI HSLNSSIKDP LQFVFSDEET SSDVKSSCSS KPNLDTMCKG FQSPDKSNNS
TGTAITLNSK LICLGTPCVI SGSISSNTDV SEDRTMKKNS DVLNLTQMYS EIPTVESETH
LGTSDPFSAS TDIVKQGLVE NYFGSQSSTD ISDTCAVSYS NALSPQKETS EKEISNLQQE
QDKEDEEEEQ DQQMVQNGYY EETDYSALDG TINAHYTSRD ELMEERLTKS EKINSDYLRD
GINMPTVCTS GCLSFPSAPR ESPCNVKYSS KSKFDAITKQ PSSTSYNFTS SISWYESSPK
PQIQAFLQAK EELKLLKLPG FMYSEVPLLA SSVPYFSVEE EDGSEDGVHL IVCVHGLDGN
SADLRLVKTY IELGLPGGRI DFLMSERNQN DTFADFDSMT DRLLDEIIQY IQIYSLTVSK
ISFIGHSLGN LIIRSVLTRP RFKYYLNKLH TFLSLSGPHL GTLYNSSALV NTGLWFMQKW
KKSGSLLQLT CRDHSDPRQT FLYKLSNKAG LHYFKNVVLV GSLQDRYVPY HSARIEMCKT
ALKDKQSGNG IKLFQRVIGI NELFPKFFL*

mutated AA sequence

MTEVQAMVEF SVELNKFYNV DLFQRGFYQI RASMKIPSRI PHRVEASLLH ATGMTLAFPA
SVHDSLICSK TFQILYKNEE VVLNDVMIFK VKMLLDERKI EETLEEMNFL LSLDLHFTDG
DYSADDLNAL QLISSRTLKL HFSPHRGLHH HVNVMFDYFH LSVVSVTVHA SLVALHQPLI
SFPRPVKTTW LNRNAPAQNK DSVIPTLESV VFGINYTKQL SPDGCSFIIA DSFLHHAYRF
HYTLCATLLL AFKGLHSYFI TVTEEIPSCQ KLELEEMDVE ARLTELCEEV KKIENPDELA
ELINMNLAQL CSLLMALWGQ FLEVITLHEE LRILLAQEHH TLRVRRFSEA FFCFEHPREA
AIAYQELHAQ SHLQMCTAIK NTSFCSSLPP LPIECSELDG DLNSLPIIFE DRYLDSVTED
LDAPWMGIQN LQRSESSKMD KYETEESSVA GLSSPELKVR PAGASSIWYT EGEKQLTKSL
KGKNEESNKS KVKVTKLMKT MKSENTKKLI KQNSKDSVVL VGYKCLKSTA SNDLIKCFEG
NPSHSQKEGL DPTICGYNFD PKTYMRQTSQ KEASCLPTNT ERTEQKSPDI ENVQPDQFDP
LNSGNLNLCA NLSISGKLDI SQDDSEITQM EHNLASRRSS DDCHDHQTTP SLGVRTIEIK
PSNKDPFSGE NITVKLGPWT ELRQEEILVD NLLPNFESLE SNGKSKSIEI TFEKEALQEA
KCLSIGESLT KLRSNLPAPS TKEYHVVVSG DTIKLPDISA TYASSRFSDS GVESEPSSFA
THPNTDLVFE TVQGQGPCNS ERLFPQLLMK PDYNVKFSLG NHCTESTSAI SEIQSSLTSI
NSLPSDDELS PDENSKKSVV PECHLNDSKT VLNLGTTDLP KCDDTKKSSI TLQQQSVVFS
GNLDNETVAI HSLNSSIKDP LQFVFSDEET SSDVKSSCSS KPNLDTMCKG FQSPDKSNNS
TGTAITLNSK LICLGTPCVI SGSISSNTDV SEDRTMKKNS DVLNLTQMYS EIPTVESETH
LGTSDPFSAS TDIVKQGLVE NYFGSQSSTD ISDTCAVSYS NALSPQKETS EKEISNLQQE
QDKEDEEEEQ DQQMVQNGYY EETDYSALDG TINAHYTSRD ELMEERLTKS EKINSDYLRD
GINMPTVCTS GCLSFPSAPR ESPCNVKYSS KSKFDAITKQ PSSTSYNFTS SISWYESSPK
PQIQAFLQAK EELKLLKLPG FMYSEVPLLA SSVPYFSVEE EGGSEDGVHL IVCVHGLDGN
SADLRLVKTY IELGLPGGRI DFLMSERNQN DTFADFDSMT DRLLDEIIQY IQIYSLTVSK
ISFIGHSLGN LIIRSVLTRP RFKYYLNKLH TFLSLSGPHL GTLYNSSALV NTGLWFMQKW
KKSGSLLQLT CRDHSDPRQT FLYKLSNKAG LHYFKNVVLV GSLQDRYVPY HSARIEMCKT
ALKDKQSGNG IKLFQRVIGI NELFPKFFL*

speed

0.96 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