MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000418814
Querying Taster for transcript #2: ENST00000505769
Querying Taster for transcript #3: ENST00000457062
Querying Taster for transcript #4: ENST00000361499
Querying Taster for transcript #5: ENST00000505868
Querying Taster for transcript #6: ENST00000370479
MT speed 0 s - this script 4.226054 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FAM135A	polymorphism_automatic	0.999993517030681	simple_aae		affected		D1242G	single base exchange	rs2747701		show file
FAM135A	polymorphism_automatic	0.999993517030681	simple_aae		affected		D822G	single base exchange	rs2747701		show file
FAM135A	polymorphism_automatic	0.999993517030681	simple_aae		affected		D1046G	single base exchange	rs2747701		show file
FAM135A	polymorphism_automatic	0.999993517030681	simple_aae		affected		D1029G	single base exchange	rs2747701		show file
FAM135A	polymorphism_automatic	0.999993517030681	simple_aae		affected		D1242G	single base exchange	rs2747701		show file
FAM135A	polymorphism_automatic	0.999993517030681	simple_aae		affected		D1029G	single base exchange	rs2747701		show file

Taster files

mutation t@sting

documentation

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

ENST00000418814

Genbank transcript ID

NM_001162529

UniProt peptide

Q9P2D6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3725A>G
cDNA.4339A>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

4548 / 4548

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

1516 / 1516

position of stopcodon in wt / mu cDNA

5162 / 5162

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

615 / 615

chromosome

strand

last intron/exon boundary

4957

theoretical NMD boundary in CDS

4292

length of CDS

4548

coding sequence (CDS) position

3725

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

4339

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
ALKDKQSGQI YSEMIHNLLR PVLQSKDCNL VRYNVINALP NTADSLIGRA AHIAVLDSEI
FLEKFFLVAA LKYFQ*

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
ALKDKQSGQI YSEMIHNLLR PVLQSKDCNL VRYNVINALP NTADSLIGRA AHIAVLDSEI
FLEKFFLVAA LKYFQ*

speed

0.62 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
back to results table

mutation t@sting

documentation

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

ENST00000505769

Genbank transcript ID

N/A

UniProt peptide

Q9P2D6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2465A>G
cDNA.2872A>G
g.115462A>G

AA changes

D822G Score: 94 explain score(s)

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

822

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

822

mutated

not conserved

822

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

3288 / 3288

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

1096 / 1096

position of stopcodon in wt / mu cDNA

3695 / 3695

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

408 / 408

chromosome

strand

last intron/exon boundary

3490

theoretical NMD boundary in CDS

3032

length of CDS

3288

coding sequence (CDS) position

2465

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

2872

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 DRYLDSVTEG
KLDISQDDSE ITQMEHNLAS RRSSDDCHDH QTTPSLGVRT IEIKPSNKDP FSGENITVKL
GPWTELRQEE ILVDNLLPNF ESLESNDEET 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
ALKDKQSGQI YSEMIHNLLR PVLQSKDCNL VRYNVINALP NTADSLIGRA AHIAVLDSEI
FLEKFFLVAA LKYFQ*

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 DRYLDSVTEG
KLDISQDDSE ITQMEHNLAS RRSSDDCHDH QTTPSLGVRT IEIKPSNKDP FSGENITVKL
GPWTELRQEE ILVDNLLPNF ESLESNDEET 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
ALKDKQSGQI YSEMIHNLLR PVLQSKDCNL VRYNVINALP NTADSLIGRA AHIAVLDSEI
FLEKFFLVAA LKYFQ*

speed

0.66 s

mutation t@sting

documentation

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

ENST00000361499

Genbank transcript ID

NM_001105531

UniProt peptide

Q9P2D6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3137A>G
cDNA.3481A>G
g.115462A>G

AA changes

D1046G Score: 94 explain score(s)

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

1046

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

1046

mutated

not conserved

1046

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

3960 / 3960

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

1320 / 1320

position of stopcodon in wt / mu cDNA

4304 / 4304

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

345 / 345

chromosome

strand

last intron/exon boundary

4099

theoretical NMD boundary in CDS

3704

length of CDS

3960

coding sequence (CDS) position

3137

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

3481

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 DRYLDSVTEG
KLDISQDDSE ITQMEHNLAS RRSSDDCHDH QTTPSLGVRT IEIKPSNKDP FSGENITVKL
GPWTELRQEE ILVDNLLPNF ESLESNGKSK SIEITFEKEA LQEAKCLSIG ESLTKLRSNL
PAPSTKEYHV VVSGDTIKLP DISATYASSR FSDSGVESEP SSFATHPNTD LVFETVQGQG
PCNSERLFPQ LLMKPDYNVK FSLGNHCTES TSAISEIQSS LTSINSLPSD DELSPDENSK
KSVVPECHLN DSKTVLNLGT TDLPKCDDTK KSSITLQQQS VVFSGNLDNE TVAIHSLNSS
IKDPLQFVFS DEETSSDVKS SCSSKPNLDT MCKGFQSPDK SNNSTGTAIT LNSKLICLGT
PCVISGSISS NTDVSEDRTM KKNSDVLNLT QMYSEIPTVE SETHLGTSDP FSASTDIVKQ
GLVENYFGSQ SSTDISDTCA VSYSNALSPQ KETSEKEISN LQQEQDKEDE EEEQDQQMVQ
NGYYEETDYS ALDGTINAHY TSRDELMEER LTKSEKINSD YLRDGINMPT VCTSGCLSFP
SAPRESPCNV KYSSKSKFDA ITKQPSSTSY NFTSSISWYE SSPKPQIQAF LQAKEELKLL
KLPGFMYSEV PLLASSVPYF SVEEEDGSED GVHLIVCVHG LDGNSADLRL VKTYIELGLP
GGRIDFLMSE RNQNDTFADF DSMTDRLLDE IIQYIQIYSL TVSKISFIGH SLGNLIIRSV
LTRPRFKYYL NKLHTFLSLS GPHLGTLYNS SALVNTGLWF MQKWKKSGSL LQLTCRDHSD
PRQTFLYKLS NKAGLHYFKN VVLVGSLQDR YVPYHSARIE MCKTALKDKQ SGQIYSEMIH
NLLRPVLQSK DCNLVRYNVI NALPNTADSL IGRAAHIAVL DSEIFLEKFF LVAALKYFQ*

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 DRYLDSVTEG
KLDISQDDSE ITQMEHNLAS RRSSDDCHDH QTTPSLGVRT IEIKPSNKDP FSGENITVKL
GPWTELRQEE ILVDNLLPNF ESLESNGKSK SIEITFEKEA LQEAKCLSIG ESLTKLRSNL
PAPSTKEYHV VVSGDTIKLP DISATYASSR FSDSGVESEP SSFATHPNTD LVFETVQGQG
PCNSERLFPQ LLMKPDYNVK FSLGNHCTES TSAISEIQSS LTSINSLPSD DELSPDENSK
KSVVPECHLN DSKTVLNLGT TDLPKCDDTK KSSITLQQQS VVFSGNLDNE TVAIHSLNSS
IKDPLQFVFS DEETSSDVKS SCSSKPNLDT MCKGFQSPDK SNNSTGTAIT LNSKLICLGT
PCVISGSISS NTDVSEDRTM KKNSDVLNLT QMYSEIPTVE SETHLGTSDP FSASTDIVKQ
GLVENYFGSQ SSTDISDTCA VSYSNALSPQ KETSEKEISN LQQEQDKEDE EEEQDQQMVQ
NGYYEETDYS ALDGTINAHY TSRDELMEER LTKSEKINSD YLRDGINMPT VCTSGCLSFP
SAPRESPCNV KYSSKSKFDA ITKQPSSTSY NFTSSISWYE SSPKPQIQAF LQAKEELKLL
KLPGFMYSEV PLLASSVPYF SVEEEGGSED GVHLIVCVHG LDGNSADLRL VKTYIELGLP
GGRIDFLMSE RNQNDTFADF DSMTDRLLDE IIQYIQIYSL TVSKISFIGH SLGNLIIRSV
LTRPRFKYYL NKLHTFLSLS GPHLGTLYNS SALVNTGLWF MQKWKKSGSL LQLTCRDHSD
PRQTFLYKLS NKAGLHYFKN VVLVGSLQDR YVPYHSARIE MCKTALKDKQ SGQIYSEMIH
NLLRPVLQSK DCNLVRYNVI NALPNTADSL IGRAAHIAVL DSEIFLEKFF LVAALKYFQ*

speed

0.79 s

mutation t@sting

documentation

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

ENST00000457062

Genbank transcript ID

N/A

UniProt peptide

Q9P2D6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3086A>G
cDNA.3356A>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

4179 / 4179

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

271 / 271

chromosome

strand

last intron/exon boundary

3974

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)

3356

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

0.62 s

mutation t@sting

documentation

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

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

0.74 s

mutation t@sting

documentation

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

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

0.64 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems