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 11 transcript(s)...
Querying Taster for transcript #1: ENST00000380569
Querying Taster for transcript #2: ENST00000587652
Querying Taster for transcript #3: ENST00000380568
Querying Taster for transcript #4: ENST00000380561
Querying Taster for transcript #5: ENST00000574161
Querying Taster for transcript #6: ENST00000572390
Querying Taster for transcript #7: ENST00000396180
Querying Taster for transcript #8: ENST00000380560
Querying Taster for transcript #9: ENST00000267853
Querying Taster for transcript #10: ENST00000380565
Querying Taster for transcript #11: ENST00000380563
MT speed 0 s - this script 6.754926 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
GCOM1	polymorphism_automatic	0.999977582205515	simple_aae		affected		A277V	single base exchange	rs16977629		show file
GCOM1	polymorphism_automatic	0.999977582205515	simple_aae		affected		A277V	single base exchange	rs16977629		show file
GCOM1	polymorphism_automatic	0.999977582205515	simple_aae		affected		A277V	single base exchange	rs16977629		show file
GCOM1	polymorphism_automatic	0.999977582205515	simple_aae		affected		A246V	single base exchange	rs16977629		show file
GCOM1	polymorphism_automatic	0.999977582205515	simple_aae		affected		A277V	single base exchange	rs16977629		show file
GCOM1	polymorphism_automatic	0.999977582205515	simple_aae		affected		A277V	single base exchange	rs16977629		show file
GCOM1	polymorphism_automatic	0.999977582205515	simple_aae		affected		A208V	single base exchange	rs16977629		show file
GCOM1	polymorphism_automatic	0.999977582205515	simple_aae		affected		A246V	single base exchange	rs16977629		show file
POLR2M	polymorphism_automatic	1	without_aae		affected			single base exchange	rs16977629		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.24177944847819e-05 (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)

chr15:57925836C>TN/A show variant in all transcripts IGV

HGNC symbol

GCOM1

Ensembl transcript ID

ENST00000380569

Genbank transcript ID

NM_001018090

UniProt peptide

P0CAP1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.830C>T
cDNA.957C>T
g.41731C>T

AA changes

A277V Score: 64 explain score(s)

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

277

frameshift

known variant

Reference ID: rs16977629

database	homozygous (T/T)	heterozygous	allele carriers
1000G	126	677	803
ExAC	1081	11177	12258

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.272	1
	4.81	0.998
(flanking)	-4.248	0.002

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	41729	wt: 0.6055 / mu: 0.6524 (marginal change - not scored)	wt: CTGAAAGCGATTGAA mu: CTGAAAGTGATTGAA	GAAA\|gcga
Donor increased	41724	wt: 0.40 / mu: 0.93	wt: GTTTTCTGAAAGCGA mu: GTTTTCTGAAAGTGA	TTTC\|tgaa
Donor marginally increased	41733	wt: 0.9805 / mu: 0.9843 (marginal change - not scored)	wt: AAGCGATTGAAGAAG mu: AAGTGATTGAAGAAG	GCGA\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

277

mutated

not conserved

277

Ptroglodytes

all identical

ENSPTRG00000007112

277

Mmulatta

all identical

ENSMMUG00000012690

277

Fcatus

all identical

ENSFCAG00000014906

252

Mmusculus

all identical

ENSMUSG00000041361

277

Ggallus

all identical

ENSGALG00000004283

254

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000075017

304

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010875

305

protein features

start (aa)	end (aa)	feature	details
174	418	COILED	Potential.	lost
424	425	MOTIF	Required for DYNLL1-binding.	might get lost (downstream of altered splice site)
436	436	MUTAGEN	Q->G: No effect on DYNLL1-binding; when associated with G-448.	might get lost (downstream of altered splice site)
448	448	MUTAGEN	R->G: No effect on DYNLL1-binding; when associated with G-436.	might get lost (downstream of altered splice site)
450	450	MUTAGEN	Y->G: No effect on DYNLL1-binding.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1653 / 1653

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

551 / 551

position of stopcodon in wt / mu cDNA

1780 / 1780

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

128 / 128

chromosome

strand

last intron/exon boundary

1637

theoretical NMD boundary in CDS

1459

length of CDS

1653

coding sequence (CDS) position

830

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

957

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

41731

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

57925836

original gDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered gDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

original cDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered cDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

wildtype AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVRAT LEKVRKRMYG
DYDEMRQKIR QLTQELSVSH AQQEYLENHI QTQSSALDRF NAMNSALASD SIGLQKTLVD
VTLENSNIKD QIRNLQQTYE ASMDKLREKQ RQLEVAQVEN QLLKMKVESS QEANAEVMRE
MTKKLYSQYE EKLQEEQRKH SAEKEALLEE TNSFLKAIEE ANKKMQAAEI SLEEKDQRIG
ELDRLIERME KERHQLQLQL LEHETEMSGE LTDSDKERYQ QLEEASASLR ERIRHLDDMV
HCQQKKVKQM VEEIESLKKK LQQKQLLILQ LLEKISFLEG ENNELQSRLD YLTETQAKTE
VETREIGVGC DLLPRLPFRQ NDSSSHCQKS GSPISSEERR RRDKQHLDDI TAARLLPLHH
MPTQLLSIEE SLALQKQQKQ NYEEMQAKLA AQKLAERLNI KMRSYNPEGE SSGRYREVRD
EDDDWSSDEF *

mutated AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVRAT LEKVRKRMYG
DYDEMRQKIR QLTQELSVSH AQQEYLENHI QTQSSALDRF NAMNSALASD SIGLQKTLVD
VTLENSNIKD QIRNLQQTYE ASMDKLREKQ RQLEVAQVEN QLLKMKVESS QEANAEVMRE
MTKKLYSQYE EKLQEEQRKH SAEKEALLEE TNSFLKVIEE ANKKMQAAEI SLEEKDQRIG
ELDRLIERME KERHQLQLQL LEHETEMSGE LTDSDKERYQ QLEEASASLR ERIRHLDDMV
HCQQKKVKQM VEEIESLKKK LQQKQLLILQ LLEKISFLEG ENNELQSRLD YLTETQAKTE
VETREIGVGC DLLPRLPFRQ NDSSSHCQKS GSPISSEERR RRDKQHLDDI TAARLLPLHH
MPTQLLSIEE SLALQKQQKQ NYEEMQAKLA AQKLAERLNI KMRSYNPEGE SSGRYREVRD
EDDDWSSDEF *

speed

1.02 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: 2.24177944847819e-05 (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)

chr15:57925836C>TN/A show variant in all transcripts IGV

HGNC symbol

GCOM1

Ensembl transcript ID

ENST00000587652

Genbank transcript ID

N/A

UniProt peptide

P0CAP1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.830C>T
cDNA.851C>T
g.41731C>T

AA changes

A277V Score: 64 explain score(s)

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

277

frameshift

known variant

Reference ID: rs16977629

database	homozygous (T/T)	heterozygous	allele carriers
1000G	126	677	803
ExAC	1081	11177	12258

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.272	1
	4.81	0.998
(flanking)	-4.248	0.002

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	41729	wt: 0.6055 / mu: 0.6524 (marginal change - not scored)	wt: CTGAAAGCGATTGAA mu: CTGAAAGTGATTGAA	GAAA\|gcga
Donor increased	41724	wt: 0.40 / mu: 0.93	wt: GTTTTCTGAAAGCGA mu: GTTTTCTGAAAGTGA	TTTC\|tgaa
Donor marginally increased	41733	wt: 0.9805 / mu: 0.9843 (marginal change - not scored)	wt: AAGCGATTGAAGAAG mu: AAGTGATTGAAGAAG	GCGA\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

277

mutated

not conserved

277

Ptroglodytes

all identical

ENSPTRG00000007112

277

Mmulatta

all identical

ENSMMUG00000012690

277

Fcatus

all identical

ENSFCAG00000014906

252

Mmusculus

all identical

ENSMUSG00000041361

277

Ggallus

all identical

ENSGALG00000004283

254

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000075017

304

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010875

305

protein features

start (aa)	end (aa)	feature	details
174	418	COILED	Potential.	lost
424	425	MOTIF	Required for DYNLL1-binding.	might get lost (downstream of altered splice site)
436	436	MUTAGEN	Q->G: No effect on DYNLL1-binding; when associated with G-448.	might get lost (downstream of altered splice site)
448	448	MUTAGEN	R->G: No effect on DYNLL1-binding; when associated with G-436.	might get lost (downstream of altered splice site)
450	450	MUTAGEN	Y->G: No effect on DYNLL1-binding.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2298 / 2298

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

766 / 766

position of stopcodon in wt / mu cDNA

2319 / 2319

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

22 / 22

chromosome

strand

last intron/exon boundary

2176

theoretical NMD boundary in CDS

2104

length of CDS

2298

coding sequence (CDS) position

830

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

851

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

41731

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

57925836

original gDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered gDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

original cDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered cDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

wildtype AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVRAT LEKVRKRMYG
DYDEMRQKIR QLTQELSVSH AQQEYLENHI QTQSSALDRF NAMNSALASD SIGLQKTLVD
VTLENSNIKD QIRNLQQTYE ASMDKLREKQ RQLEVAQVEN QLLKMKVESS QEANAEVMRE
MTKKLYSQYE EKLQEEQRKH SAEKEALLEE TNSFLKAIEE ANKKMQAAEI SLEEKDQRIG
ELDRLIERME KERHQLQLQL LEHETEMSGE LTDSDKERYQ QLEEASASLR ERIRHLDDMV
HCQQKKVKQM VEEIESLKKK LQQKQLLILQ LLEKISFLEG ENNELQSRLD YLTETQAKTE
VETREIGVGC DLLPRKFICK LPDKGKKIFD SFAKLKAAIA ECEEVRRKSE LFNPVSLDCK
LRQKAIAEVD VGTDKAQNSD PILDTSSLVP GCSSVDNIKS SQTSQNQGLG RPTLEGDEET
SEVEYTVNKG PASSNRDRVP PSSEASEHHP RHRVSSQAED TSSSFDNLFI DRLQRITIAD
QGEQQSEENA STKNLTGLSS GTEKKPHYME VLEMRAKNPV PQLRKFKTNV LPFRQNDSSS
HCQKSGSPIS SEERRRRDKQ HLDDITAARL LPLHHMPTQL LSIEESLALQ KQQKQNYEEM
QAKLAAQKLA ERLNIKMRSY NPEGESSGRY REVRDEDDDW SSDEF*

mutated AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVRAT LEKVRKRMYG
DYDEMRQKIR QLTQELSVSH AQQEYLENHI QTQSSALDRF NAMNSALASD SIGLQKTLVD
VTLENSNIKD QIRNLQQTYE ASMDKLREKQ RQLEVAQVEN QLLKMKVESS QEANAEVMRE
MTKKLYSQYE EKLQEEQRKH SAEKEALLEE TNSFLKVIEE ANKKMQAAEI SLEEKDQRIG
ELDRLIERME KERHQLQLQL LEHETEMSGE LTDSDKERYQ QLEEASASLR ERIRHLDDMV
HCQQKKVKQM VEEIESLKKK LQQKQLLILQ LLEKISFLEG ENNELQSRLD YLTETQAKTE
VETREIGVGC DLLPRKFICK LPDKGKKIFD SFAKLKAAIA ECEEVRRKSE LFNPVSLDCK
LRQKAIAEVD VGTDKAQNSD PILDTSSLVP GCSSVDNIKS SQTSQNQGLG RPTLEGDEET
SEVEYTVNKG PASSNRDRVP PSSEASEHHP RHRVSSQAED TSSSFDNLFI DRLQRITIAD
QGEQQSEENA STKNLTGLSS GTEKKPHYME VLEMRAKNPV PQLRKFKTNV LPFRQNDSSS
HCQKSGSPIS SEERRRRDKQ HLDDITAARL LPLHHMPTQL LSIEESLALQ KQQKQNYEEM
QAKLAAQKLA ERLNIKMRSY NPEGESSGRY REVRDEDDDW SSDEF*

speed

1.03 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.24177944847819e-05 (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)

chr15:57925836C>TN/A show variant in all transcripts IGV

HGNC symbol

GCOM1

Ensembl transcript ID

ENST00000380568

Genbank transcript ID

NM_001018091

UniProt peptide

P0CAP1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.830C>T
cDNA.832C>T
g.41731C>T

AA changes

A277V Score: 64 explain score(s)

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

277

frameshift

known variant

Reference ID: rs16977629

database	homozygous (T/T)	heterozygous	allele carriers
1000G	126	677	803
ExAC	1081	11177	12258

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.272	1
	4.81	0.998
(flanking)	-4.248	0.002

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	41729	wt: 0.6055 / mu: 0.6524 (marginal change - not scored)	wt: CTGAAAGCGATTGAA mu: CTGAAAGTGATTGAA	GAAA\|gcga
Donor increased	41724	wt: 0.40 / mu: 0.93	wt: GTTTTCTGAAAGCGA mu: GTTTTCTGAAAGTGA	TTTC\|tgaa
Donor marginally increased	41733	wt: 0.9805 / mu: 0.9843 (marginal change - not scored)	wt: AAGCGATTGAAGAAG mu: AAGTGATTGAAGAAG	GCGA\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

277

mutated

not conserved

277

Ptroglodytes

all identical

ENSPTRG00000007112

277

Mmulatta

all identical

ENSMMUG00000012690

277

Fcatus

all identical

ENSFCAG00000014906

252

Mmusculus

all identical

ENSMUSG00000041361

277

Ggallus

all identical

ENSGALG00000004283

254

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000075017

304

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010875

305

protein features

start (aa)	end (aa)	feature	details
174	418	COILED	Potential.	lost
424	425	MOTIF	Required for DYNLL1-binding.	might get lost (downstream of altered splice site)
436	436	MUTAGEN	Q->G: No effect on DYNLL1-binding; when associated with G-448.	might get lost (downstream of altered splice site)
448	448	MUTAGEN	R->G: No effect on DYNLL1-binding; when associated with G-436.	might get lost (downstream of altered splice site)
450	450	MUTAGEN	Y->G: No effect on DYNLL1-binding.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1338 / 1338

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

446 / 446

position of stopcodon in wt / mu cDNA

1340 / 1340

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

3 / 3

chromosome

strand

last intron/exon boundary

1307

theoretical NMD boundary in CDS

1254

length of CDS

1338

coding sequence (CDS) position

830

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

832

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

41731

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

57925836

original gDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered gDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

original cDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered cDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

wildtype AA sequence

mutated AA sequence

speed

1.01 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.24177944847819e-05 (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)

chr15:57925836C>TN/A show variant in all transcripts IGV

HGNC symbol

GCOM1

Ensembl transcript ID

ENST00000380561

Genbank transcript ID

N/A

UniProt peptide

P0CAP1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.737C>T
cDNA.856C>T
g.41731C>T

AA changes

A246V Score: 64 explain score(s)

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

246

frameshift

known variant

Reference ID: rs16977629

database	homozygous (T/T)	heterozygous	allele carriers
1000G	126	677	803
ExAC	1081	11177	12258

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.272	1
	4.81	0.998
(flanking)	-4.248	0.002

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	41729	wt: 0.6055 / mu: 0.6524 (marginal change - not scored)	wt: CTGAAAGCGATTGAA mu: CTGAAAGTGATTGAA	GAAA\|gcga
Donor increased	41724	wt: 0.40 / mu: 0.93	wt: GTTTTCTGAAAGCGA mu: GTTTTCTGAAAGTGA	TTTC\|tgaa
Donor marginally increased	41733	wt: 0.9805 / mu: 0.9843 (marginal change - not scored)	wt: AAGCGATTGAAGAAG mu: AAGTGATTGAAGAAG	GCGA\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

246

mutated

not conserved

246

Ptroglodytes

all identical

ENSPTRG00000007112

277

Mmulatta

all identical

ENSMMUG00000012690

277

Fcatus

all identical

ENSFCAG00000014906

252

Mmusculus

all identical

ENSMUSG00000041361

277

Ggallus

all identical

ENSGALG00000004283

254

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000075017

304

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010875

305

protein features

start (aa)	end (aa)	feature	details
174	418	COILED	Potential.	lost
424	425	MOTIF	Required for DYNLL1-binding.	might get lost (downstream of altered splice site)
436	436	MUTAGEN	Q->G: No effect on DYNLL1-binding; when associated with G-448.	might get lost (downstream of altered splice site)
448	448	MUTAGEN	R->G: No effect on DYNLL1-binding; when associated with G-436.	might get lost (downstream of altered splice site)
450	450	MUTAGEN	Y->G: No effect on DYNLL1-binding.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1248 / 1248

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

416 / 416

position of stopcodon in wt / mu cDNA

1367 / 1367

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

120 / 120

chromosome

strand

last intron/exon boundary

1247

theoretical NMD boundary in CDS

1077

length of CDS

1248

coding sequence (CDS) position

737

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

856

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

41731

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

57925836

original gDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered gDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

original cDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered cDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

wildtype AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVSHA QQEYLENHIQ
TQSSALDRFN AMNSALASDS IGLQKTLVDV TLENSNIKDQ IRNLQQTYEA SMDKLREKQR
QLEVAQVENQ LLKMKVESSQ EANAEVMREM TKKLYSQYEE KLQEEQRKHS AEKEALLEET
NSFLKAIEEA NKKMQAAEIS LEEKDQRIGE LDRLIERMEK ERHQLQLQLL EHETEMSGEL
TDSDKERYQQ LEEASASLRE RIRHLDDMVH CQQKKVKQMV EENNELQSRL DYLTETQAKT
EVETREIGVG CDLLPRQSRK FEKVLNEFVQ LLPLPHHLLW AFGNVCWRRH FGLLQ*

mutated AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVSHA QQEYLENHIQ
TQSSALDRFN AMNSALASDS IGLQKTLVDV TLENSNIKDQ IRNLQQTYEA SMDKLREKQR
QLEVAQVENQ LLKMKVESSQ EANAEVMREM TKKLYSQYEE KLQEEQRKHS AEKEALLEET
NSFLKVIEEA NKKMQAAEIS LEEKDQRIGE LDRLIERMEK ERHQLQLQLL EHETEMSGEL
TDSDKERYQQ LEEASASLRE RIRHLDDMVH CQQKKVKQMV EENNELQSRL DYLTETQAKT
EVETREIGVG CDLLPRQSRK FEKVLNEFVQ LLPLPHHLLW AFGNVCWRRH FGLLQ*

speed

0.46 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.24177944847819e-05 (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)

chr15:57925836C>TN/A show variant in all transcripts IGV

HGNC symbol

GCOM1

Ensembl transcript ID

ENST00000574161

Genbank transcript ID

NM_001018100

UniProt peptide

P0CAP1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.830C>T
cDNA.949C>T
g.41731C>T

AA changes

A277V Score: 64 explain score(s)

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

277

frameshift

known variant

Reference ID: rs16977629

database	homozygous (T/T)	heterozygous	allele carriers
1000G	126	677	803
ExAC	1081	11177	12258

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.272	1
	4.81	0.998
(flanking)	-4.248	0.002

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	41729	wt: 0.6055 / mu: 0.6524 (marginal change - not scored)	wt: CTGAAAGCGATTGAA mu: CTGAAAGTGATTGAA	GAAA\|gcga
Donor increased	41724	wt: 0.40 / mu: 0.93	wt: GTTTTCTGAAAGCGA mu: GTTTTCTGAAAGTGA	TTTC\|tgaa
Donor marginally increased	41733	wt: 0.9805 / mu: 0.9843 (marginal change - not scored)	wt: AAGCGATTGAAGAAG mu: AAGTGATTGAAGAAG	GCGA\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

277

mutated

not conserved

277

Ptroglodytes

all identical

ENSPTRG00000007112

277

Mmulatta

all identical

ENSMMUG00000012690

277

Fcatus

all identical

ENSFCAG00000014906

252

Mmusculus

all identical

ENSMUSG00000041361

277

Ggallus

all identical

ENSGALG00000004283

254

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000075017

304

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010875

305

protein features

start (aa)	end (aa)	feature	details
174	418	COILED	Potential.	lost
424	425	MOTIF	Required for DYNLL1-binding.	might get lost (downstream of altered splice site)
436	436	MUTAGEN	Q->G: No effect on DYNLL1-binding; when associated with G-448.	might get lost (downstream of altered splice site)
448	448	MUTAGEN	R->G: No effect on DYNLL1-binding; when associated with G-436.	might get lost (downstream of altered splice site)
450	450	MUTAGEN	Y->G: No effect on DYNLL1-binding.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1401 / 1401

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

467 / 467

position of stopcodon in wt / mu cDNA

1520 / 1520

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

120 / 120

chromosome

strand

last intron/exon boundary

1424

theoretical NMD boundary in CDS

1254

length of CDS

1401

coding sequence (CDS) position

830

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

949

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

41731

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

57925836

original gDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered gDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

original cDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered cDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

wildtype AA sequence

mutated AA sequence

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.24177944847819e-05 (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)

chr15:57925836C>TN/A show variant in all transcripts IGV

HGNC symbol

GCOM1

Ensembl transcript ID

ENST00000572390

Genbank transcript ID

NM_152451

UniProt peptide

P0CAP1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.830C>T
cDNA.949C>T
g.41731C>T

AA changes

A277V Score: 64 explain score(s)

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

277

frameshift

known variant

Reference ID: rs16977629

database	homozygous (T/T)	heterozygous	allele carriers
1000G	126	677	803
ExAC	1081	11177	12258

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.272	1
	4.81	0.998
(flanking)	-4.248	0.002

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	41729	wt: 0.6055 / mu: 0.6524 (marginal change - not scored)	wt: CTGAAAGCGATTGAA mu: CTGAAAGTGATTGAA	GAAA\|gcga
Donor increased	41724	wt: 0.40 / mu: 0.93	wt: GTTTTCTGAAAGCGA mu: GTTTTCTGAAAGTGA	TTTC\|tgaa
Donor marginally increased	41733	wt: 0.9805 / mu: 0.9843 (marginal change - not scored)	wt: AAGCGATTGAAGAAG mu: AAGTGATTGAAGAAG	GCGA\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

277

mutated

not conserved

277

Ptroglodytes

all identical

ENSPTRG00000007112

277

Mmulatta

all identical

ENSMMUG00000012690

277

Fcatus

all identical

ENSFCAG00000014906

252

Mmusculus

all identical

ENSMUSG00000041361

277

Ggallus

all identical

ENSGALG00000004283

254

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000075017

304

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010875

305

protein features

start (aa)	end (aa)	feature	details
174	418	COILED	Potential.	lost
424	425	MOTIF	Required for DYNLL1-binding.	might get lost (downstream of altered splice site)
436	436	MUTAGEN	Q->G: No effect on DYNLL1-binding; when associated with G-448.	might get lost (downstream of altered splice site)
448	448	MUTAGEN	R->G: No effect on DYNLL1-binding; when associated with G-436.	might get lost (downstream of altered splice site)
450	450	MUTAGEN	Y->G: No effect on DYNLL1-binding.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1317 / 1317

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

439 / 439

position of stopcodon in wt / mu cDNA

1436 / 1436

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

120 / 120

chromosome

strand

last intron/exon boundary

1340

theoretical NMD boundary in CDS

1170

length of CDS

1317

coding sequence (CDS) position

830

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

949

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

41731

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

57925836

original gDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered gDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

original cDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered cDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

wildtype AA sequence

mutated AA sequence

speed

1.06 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.24177944847819e-05 (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)

chr15:57925836C>TN/A show variant in all transcripts IGV

HGNC symbol

GCOM1

Ensembl transcript ID

ENST00000380560

Genbank transcript ID

N/A

UniProt peptide

P0CAP1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.623C>T
cDNA.742C>T
g.41731C>T

AA changes

A208V Score: 64 explain score(s)

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

208

frameshift

known variant

Reference ID: rs16977629

database	homozygous (T/T)	heterozygous	allele carriers
1000G	126	677	803
ExAC	1081	11177	12258

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.272	1
	4.81	0.998
(flanking)	-4.248	0.002

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	41729	wt: 0.6055 / mu: 0.6524 (marginal change - not scored)	wt: CTGAAAGCGATTGAA mu: CTGAAAGTGATTGAA	GAAA\|gcga
Donor increased	41724	wt: 0.40 / mu: 0.93	wt: GTTTTCTGAAAGCGA mu: GTTTTCTGAAAGTGA	TTTC\|tgaa
Donor marginally increased	41733	wt: 0.9805 / mu: 0.9843 (marginal change - not scored)	wt: AAGCGATTGAAGAAG mu: AAGTGATTGAAGAAG	GCGA\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

208

mutated

not conserved

208

Ptroglodytes

all identical

ENSPTRG00000007112

251

Mmulatta

all identical

ENSMMUG00000012690

261

Fcatus

all identical

ENSFCAG00000014906

252

Mmusculus

all identical

ENSMUSG00000041361

251

Ggallus

all identical

ENSGALG00000004283

254

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000075017

304

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010875

305

protein features

start (aa)	end (aa)	feature	details
174	418	COILED	Potential.	lost
424	425	MOTIF	Required for DYNLL1-binding.	might get lost (downstream of altered splice site)
436	436	MUTAGEN	Q->G: No effect on DYNLL1-binding; when associated with G-448.	might get lost (downstream of altered splice site)
448	448	MUTAGEN	R->G: No effect on DYNLL1-binding; when associated with G-436.	might get lost (downstream of altered splice site)
450	450	MUTAGEN	Y->G: No effect on DYNLL1-binding.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1194 / 1194

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

398 / 398

position of stopcodon in wt / mu cDNA

1313 / 1313

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

120 / 120

chromosome

strand

last intron/exon boundary

1217

theoretical NMD boundary in CDS

1047

length of CDS

1194

coding sequence (CDS) position

623

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

742

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

41731

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

57925836

original gDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered gDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

original cDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered cDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

wildtype AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDKTLV DVTLENSNIK
DQIRNLQQTY EASMDKLREK QRQLEVAQVE NQLLKMKVES SQEANAEVMR EMTKKLYSQY
EEKLQEEQRK HSAEKEALLE ETNSFLKAIE EANKKMQAAE ISLEEKDQRI GELDRLIERM
EKERHQLQLQ LLEHETEMSG ELTDSDKERY QQLEEASASL RERIRHLDDM VHCQQKKVKQ
MVEEIESLKK KLQQKQLLIL QLLEKISFLE GENNELQSRL DYLTETQAKT EVETREIGVG
CDLLPSQTGR TREIVMPSRN YTPYTRVLEL TMKKTLT*

mutated AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDKTLV DVTLENSNIK
DQIRNLQQTY EASMDKLREK QRQLEVAQVE NQLLKMKVES SQEANAEVMR EMTKKLYSQY
EEKLQEEQRK HSAEKEALLE ETNSFLKVIE EANKKMQAAE ISLEEKDQRI GELDRLIERM
EKERHQLQLQ LLEHETEMSG ELTDSDKERY QQLEEASASL RERIRHLDDM VHCQQKKVKQ
MVEEIESLKK KLQQKQLLIL QLLEKISFLE GENNELQSRL DYLTETQAKT EVETREIGVG
CDLLPSQTGR TREIVMPSRN YTPYTRVLEL TMKKTLT*

speed

0.94 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.24177944847819e-05 (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)

chr15:57925836C>TN/A show variant in all transcripts IGV

HGNC symbol

GCOM1

Ensembl transcript ID

ENST00000396180

Genbank transcript ID

N/A

UniProt peptide

P0CAP1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.737C>T
cDNA.856C>T
g.41731C>T

AA changes

A246V Score: 64 explain score(s)

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

246

frameshift

known variant

Reference ID: rs16977629

database	homozygous (T/T)	heterozygous	allele carriers
1000G	126	677	803
ExAC	1081	11177	12258

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.272	1
	4.81	0.998
(flanking)	-4.248	0.002

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	41729	wt: 0.6055 / mu: 0.6524 (marginal change - not scored)	wt: CTGAAAGCGATTGAA mu: CTGAAAGTGATTGAA	GAAA\|gcga
Donor increased	41724	wt: 0.40 / mu: 0.93	wt: GTTTTCTGAAAGCGA mu: GTTTTCTGAAAGTGA	TTTC\|tgaa
Donor marginally increased	41733	wt: 0.9805 / mu: 0.9843 (marginal change - not scored)	wt: AAGCGATTGAAGAAG mu: AAGTGATTGAAGAAG	GCGA\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

246

mutated

not conserved

246

Ptroglodytes

all identical

ENSPTRG00000007112

277

Mmulatta

all identical

ENSMMUG00000012690

277

Fcatus

all identical

ENSFCAG00000014906

252

Mmusculus

all identical

ENSMUSG00000041361

277

Ggallus

all identical

ENSGALG00000004283

254

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000075017

304

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010875

305

protein features

start (aa)	end (aa)	feature	details
174	418	COILED	Potential.	lost
424	425	MOTIF	Required for DYNLL1-binding.	might get lost (downstream of altered splice site)
436	436	MUTAGEN	Q->G: No effect on DYNLL1-binding; when associated with G-448.	might get lost (downstream of altered splice site)
448	448	MUTAGEN	R->G: No effect on DYNLL1-binding; when associated with G-436.	might get lost (downstream of altered splice site)
450	450	MUTAGEN	Y->G: No effect on DYNLL1-binding.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1308 / 1308

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

436 / 436

position of stopcodon in wt / mu cDNA

1427 / 1427

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

120 / 120

chromosome

strand

last intron/exon boundary

1331

theoretical NMD boundary in CDS

1161

length of CDS

1308

coding sequence (CDS) position

737

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

856

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

41731

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

57925836

original gDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered gDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

original cDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered cDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

wildtype AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVSHA QQEYLENHIQ
TQSSALDRFN AMNSALASDS IGLQKTLVDV TLENSNIKDQ IRNLQQTYEA SMDKLREKQR
QLEVAQVENQ LLKMKVESSQ EANAEVMREM TKKLYSQYEE KLQEEQRKHS AEKEALLEET
NSFLKAIEEA NKKMQAAEIS LEEKDQRIGE LDRLIERMEK ERHQLQLQLL EHETEMSGEL
TDSDKERYQQ LEEASASLRE RIRHLDDMVH CQQKKVKQMV EEIESLKKKL QQKQLLILQL
LEKISFLEGE NNELQSRLDY LTETQAKTEV ETREIGVGCD LLPSQTGRTR EIVMPSRNYT
PYTRVLELTM KKTLT*

mutated AA sequence

MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVSHA QQEYLENHIQ
TQSSALDRFN AMNSALASDS IGLQKTLVDV TLENSNIKDQ IRNLQQTYEA SMDKLREKQR
QLEVAQVENQ LLKMKVESSQ EANAEVMREM TKKLYSQYEE KLQEEQRKHS AEKEALLEET
NSFLKVIEEA NKKMQAAEIS LEEKDQRIGE LDRLIERMEK ERHQLQLQLL EHETEMSGEL
TDSDKERYQQ LEEASASLRE RIRHLDDMVH CQQKKVKQMV EEIESLKKKL QQKQLLILQL
LEKISFLEGE NNELQSRLDY LTETQAKTEV ETREIGVGCD LLPSQTGRTR EIVMPSRNYT
PYTRVLELTM KKTLT*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 4.16040332391115e-48 (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)

chr15:57925836C>TN/A show variant in all transcripts IGV

HGNC symbol

POLR2M

Ensembl transcript ID

ENST00000380563

Genbank transcript ID

N/A

UniProt peptide

P0CAP2

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.739C>T
g.41606C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs16977629

database	homozygous (T/T)	heterozygous	allele carriers
1000G	126	677	803
ExAC	1081	11177	12258

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.272	1
	4.81	0.998
(flanking)	-4.248	0.002

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

splice sites

splice site change before start ATG (at aa -554) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	41604	wt: 0.6055 / mu: 0.6524 (marginal change - not scored)	wt: CTGAAAGCGATTGAA mu: CTGAAAGTGATTGAA	GAAA\|gcga
Donor increased	41599	wt: 0.40 / mu: 0.93	wt: GTTTTCTGAAAGCGA mu: GTTTTCTGAAAGTGA	TTTC\|tgaa
Donor marginally increased	41608	wt: 0.9805 / mu: 0.9843 (marginal change - not scored)	wt: AAGCGATTGAAGAAG mu: AAGTGATTGAAGAAG	GCGA\|ttga

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
171	171	CONFLICT	H -> D (in Ref. 7; CAB43263).	might get lost (downstream of altered splice site)
185	185	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
270	270	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
301	335	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

2396 / 2396

chromosome

strand

last intron/exon boundary

3359

theoretical NMD boundary in CDS

913

length of CDS

1092

coding sequence (CDS) position

N/A

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

739

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

41606

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

57925836

original gDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered gDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

original cDNA sequence snippet

AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA

altered cDNA sequence snippet

AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA

wildtype AA sequence

MCSLPRGFEP QAPEDLAQRS LVELREMLKR QERLLRNEKF ICKLPDKGKK IFDSFAKLKA
AIAECEEVRR KSELFNPVSL DCKLRQKAIA EVDVGTDKAQ NSDPILDTSS LVPGCSSVDN
IKSSQTSQNQ GLGRPTLEGD EETSEVEYTV NKGPASSNRD RVPPSSEASE HHPRHRVSSQ
AEDTSSSFDN LFIDRLQRIT IADQGEQQSE ENASTKNLTG LSSGTEKKPH YMEVLEMRAK
NPVPQLRKFK TNVLPFRQND SSSHCQKSGS PISSEERRRR DKQHLDDITA ARLLPLHHMP
TQLLSIEESL ALQKQQKQNY EERPFYSPQY RSSMNLLSLA AAAKDTRGSK SGKMGSLALL
TKL*

mutated AA sequence

N/A

speed

0.76 s

Problems

data problem

Gene # 100820829 not found on any chromosome

back to results table

data problem

Gene # 100820829 not found on any chromosome

back to results table