Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000511367
Querying Taster for transcript #2: ENST00000513349
Querying Taster for transcript #3: ENST00000344624
Querying Taster for transcript #4: ENST00000442743
MT speed 0 s - this script 4.693555 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DROSHApolymorphism_automatic1.20372045664396e-10simple_aaeaffectedS321Lsingle base exchangers55656741show file
DROSHApolymorphism_automatic1.20372045664396e-10simple_aaeaffectedS321Lsingle base exchangers55656741show file
DROSHApolymorphism_automatic2.06161805960114e-07without_aaeaffectedsingle base exchangers55656741show file
DROSHApolymorphism_automatic2.06161805960114e-07without_aaeaffectedsingle base exchangers55656741show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999879628 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:31515657G>AN/A show variant in all transcripts   IGV
HGNC symbol DROSHA
Ensembl transcript ID ENST00000511367
Genbank transcript ID NM_013235
UniProt peptide Q9NRR4
alteration type single base exchange
alteration region CDS
DNA changes c.962C>T
cDNA.1207C>T
g.16647C>T
AA changes S321L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 321
frameshift no
known variant Reference ID: rs55656741
databasehomozygous (A/A)heterozygousallele carriers
1000G2958221117
ExAC221351577370
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.620.005
0.5540.008
(flanking)0.1210.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased16648wt: 0.4971 / mu: 0.5043 (marginal change - not scored)wt: TTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTGG
mu: TTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTGG		 atcg|GTTG
Acc increased16656wt: 0.39 / mu: 0.57wt: TTACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACAC
mu: TTACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACAC		 ttcc|TGAA
Acc increased16657wt: 0.30 / mu: 0.50wt: TACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACC
mu: TACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACC		 tcct|GAAC
Acc increased16658wt: 0.51 / mu: 0.64wt: ACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACCA
mu: ACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACCA		 cctg|AACC
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      321EYKRSGRSYGLSVVPEPAGCTPEL
mutated  not conserved    321EYKRSGRSYGLLVVPEPAGCTPE
Ptroglodytes  all identical  ENSPTRG00000016762  321EYKRSGRSYGLSVVPEPAGCTPE
Mmulatta  all identical  ENSMMUG00000012193  320EYKRSGRSYGLSVVPEPAGCTPE
Fcatus  no alignment  ENSFCAG00000000360  n/a
Mmusculus  not conserved  ENSMUSG00000022191  320EYKRSGRSYALPVAPEPAGCTPE
Ggallus  not conserved  ENSGALG00000012916  320DYKRAGS----------------
Trubripes  not conserved  ENSTRUG00000017778  319PHS--------------------
Drerio  not conserved  ENSDARG00000055563  279ARNRSG-----------------
Dmelanogaster  not conserved  FBgn0026722  214-YGSAARN------
Celegans  not conserved  F26E4.10  58PSTSSAPPDTVEKIPLPTESTSA
Xtropicalis  all identical  ENSXETG00000016701  325RPKRYYNLYIVAGSYSVNYAGVKYE
protein features
start (aa)end (aa)featuredetails 
4901374REGIONNecessary for interaction with DGCR8 and pri-miRNA processing activity.might get lost (downstream of altered splice site)
612612CONFLICTL -> P (in Ref. 3; CAB45133).might get lost (downstream of altered splice site)
8761056DOMAINRNase III 1.might get lost (downstream of altered splice site)
993993MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
10201020CONFLICTR -> P (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
10451045MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
11071233DOMAINRNase III 2.might get lost (downstream of altered splice site)
11471147METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
11711171MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
12151215SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
12191219METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12221222MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
12221222METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12301230CONFLICTI -> T (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
12601334DOMAINDRBM.might get lost (downstream of altered splice site)
12631271HELIXmight get lost (downstream of altered splice site)
12751277STRANDmight get lost (downstream of altered splice site)
12841286STRANDmight get lost (downstream of altered splice site)
12921294STRANDmight get lost (downstream of altered splice site)
12981304STRANDmight get lost (downstream of altered splice site)
13121316STRANDmight get lost (downstream of altered splice site)
13171329HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4125 / 4125
position (AA) of stopcodon in wt / mu AA sequence 1375 / 1375
position of stopcodon in wt / mu cDNA 4370 / 4370
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 246 / 246
chromosome 5
strand -1
last intron/exon boundary 4240
theoretical NMD boundary in CDS 3944
length of CDS 4125
coding sequence (CDS) position 962
cDNA position
(for ins/del: last normal base / first normal base)		 1207
gDNA position
(for ins/del: last normal base / first normal base)		 16647
chromosomal position
(for ins/del: last normal base / first normal base)		 31515657
original gDNA sequence snippet TTTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTG
altered gDNA sequence snippet TTTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTG
original cDNA sequence snippet TGGAAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTG
altered cDNA sequence snippet TGGAAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTG
wildtype AA sequence MMQGNTCHRM SFHPGRGCPR GRGGHGARPS APSFRPQNLR LLHPQQPPVQ YQYEPPSAPS
TTFSNSPAPN FLPPRPDFVP FPPPMPPSAQ GPLPPCPIRP PFPNHQMRHP FPVPPCFPPM
PPPMPCPNNP PVPGAPPGQG TFPFMMPPPS MPHPPPPPVM PQQVNYQYPP GYSHHNFPPP
SFNSFQNNPS SFLPSANNSS SPHFRHLPPY PLPKAPSERR SPERLKHYDD HRHRDHSHGR
GERHRSLDRR ERGRSPDRRR QDSRYRSDYD RGRTPSRHRS YERSRERERE RHRHRDNRRS
PSLERSYKKE YKRSGRSYGL SVVPEPAGCT PELPGEIIKN TDSWAPPLEI VNHRSPSREK
KRARWEEEKD RWSDNQSSGK DKNYTSIKEK EPEETMPDKN EEEEEELLKP VWIRCTHSEN
YYSSDPMDQV GDSTVVGTSR LRDLYDKFEE ELGSRQEKAK AARPPWEPPK TKLDEDLESS
SESECESDED STCSSSSDSE VFDVIAEIKR KKAHPDRLHD ELWYNDPGQM NDGPLCKCSA
KARRTGIRHS IYPGEEAIKP CRPMTNNAGR LFHYRITVSP PTNFLTDRPT VIEYDDHEYI
FEGFSMFAHA PLTNIPLCKV IRFNIDYTIH FIEEMMPENF CVKGLELFSL FLFRDILELY
DWNLKGPLFE DSPPCCPRFH FMPRFVRFLP DGGKEVLSMH QILLYLLRCS KALVPEEEIA
NMLQWEELEW QKYAEECKGM IVTNPGTKPS SVRIDQLDRE QFNPDVITFP IIVHFGIRPA
QLSYAGDPQY QKLWKSYVKL RHLLANSPKV KQTDKQKLAQ REEALQKIRQ KNTMRREVTV
ELSSQGFWKT GIRSDVCQHA MMLPVLTHHI RYHQCLMHLD KLIGYTFQDR CLLQLAMTHP
SHHLNFGMNP DHARNSLSNC GIRQPKYGDR KVHHMHMRKK GINTLINIMS RLGQDDPTPS
RINHNERLEF LGDAVVEFLT SVHLYYLFPS LEEGGLATYR TAIVQNQHLA MLAKKLELDR
FMLYAHGPDL CRESDLRHAM ANCFEALIGA VYLEGSLEEA KQLFGRLLFN DPDLREVWLN
YPLHPLQLQE PNTDRQLIET SPVLQKLTEF EEAIGVIFTH VRLLARAFTL RTVGFNHLTL
GHNQRMEFLG DSIMQLVATE YLFIHFPDHH EGHLTLLRSS LVNNRTQAKV AEELGMQEYA
ITNDKTKRPV ALRTKTLADL LESFIAALYI DKDLEYVHTF MNVCFFPRLK EFILNQDWND
PKSQLQQCCL TLRTEGKEPD IPLYKTLQTV GPSHARTYTV AVYFKGERIG CGKGPSIQQA
EMGAAMDALE KYNFPQMAHQ KRFIERKYRQ ELKEMRWERE HQEREPDETE DIKK*
mutated AA sequence MMQGNTCHRM SFHPGRGCPR GRGGHGARPS APSFRPQNLR LLHPQQPPVQ YQYEPPSAPS
TTFSNSPAPN FLPPRPDFVP FPPPMPPSAQ GPLPPCPIRP PFPNHQMRHP FPVPPCFPPM
PPPMPCPNNP PVPGAPPGQG TFPFMMPPPS MPHPPPPPVM PQQVNYQYPP GYSHHNFPPP
SFNSFQNNPS SFLPSANNSS SPHFRHLPPY PLPKAPSERR SPERLKHYDD HRHRDHSHGR
GERHRSLDRR ERGRSPDRRR QDSRYRSDYD RGRTPSRHRS YERSRERERE RHRHRDNRRS
PSLERSYKKE YKRSGRSYGL LVVPEPAGCT PELPGEIIKN TDSWAPPLEI VNHRSPSREK
KRARWEEEKD RWSDNQSSGK DKNYTSIKEK EPEETMPDKN EEEEEELLKP VWIRCTHSEN
YYSSDPMDQV GDSTVVGTSR LRDLYDKFEE ELGSRQEKAK AARPPWEPPK TKLDEDLESS
SESECESDED STCSSSSDSE VFDVIAEIKR KKAHPDRLHD ELWYNDPGQM NDGPLCKCSA
KARRTGIRHS IYPGEEAIKP CRPMTNNAGR LFHYRITVSP PTNFLTDRPT VIEYDDHEYI
FEGFSMFAHA PLTNIPLCKV IRFNIDYTIH FIEEMMPENF CVKGLELFSL FLFRDILELY
DWNLKGPLFE DSPPCCPRFH FMPRFVRFLP DGGKEVLSMH QILLYLLRCS KALVPEEEIA
NMLQWEELEW QKYAEECKGM IVTNPGTKPS SVRIDQLDRE QFNPDVITFP IIVHFGIRPA
QLSYAGDPQY QKLWKSYVKL RHLLANSPKV KQTDKQKLAQ REEALQKIRQ KNTMRREVTV
ELSSQGFWKT GIRSDVCQHA MMLPVLTHHI RYHQCLMHLD KLIGYTFQDR CLLQLAMTHP
SHHLNFGMNP DHARNSLSNC GIRQPKYGDR KVHHMHMRKK GINTLINIMS RLGQDDPTPS
RINHNERLEF LGDAVVEFLT SVHLYYLFPS LEEGGLATYR TAIVQNQHLA MLAKKLELDR
FMLYAHGPDL CRESDLRHAM ANCFEALIGA VYLEGSLEEA KQLFGRLLFN DPDLREVWLN
YPLHPLQLQE PNTDRQLIET SPVLQKLTEF EEAIGVIFTH VRLLARAFTL RTVGFNHLTL
GHNQRMEFLG DSIMQLVATE YLFIHFPDHH EGHLTLLRSS LVNNRTQAKV AEELGMQEYA
ITNDKTKRPV ALRTKTLADL LESFIAALYI DKDLEYVHTF MNVCFFPRLK EFILNQDWND
PKSQLQQCCL TLRTEGKEPD IPLYKTLQTV GPSHARTYTV AVYFKGERIG CGKGPSIQQA
EMGAAMDALE KYNFPQMAHQ KRFIERKYRQ ELKEMRWERE HQEREPDETE DIKK*
speed 1.05 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999879628 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:31515657G>AN/A show variant in all transcripts   IGV
HGNC symbol DROSHA
Ensembl transcript ID ENST00000344624
Genbank transcript ID N/A
UniProt peptide Q9NRR4
alteration type single base exchange
alteration region CDS
DNA changes c.962C>T
cDNA.1009C>T
g.16647C>T
AA changes S321L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 321
frameshift no
known variant Reference ID: rs55656741
databasehomozygous (A/A)heterozygousallele carriers
1000G2958221117
ExAC221351577370
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.620.005
0.5540.008
(flanking)0.1210.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased16648wt: 0.4971 / mu: 0.5043 (marginal change - not scored)wt: TTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTGG
mu: TTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTGG		 atcg|GTTG
Acc increased16656wt: 0.39 / mu: 0.57wt: TTACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACAC
mu: TTACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACAC		 ttcc|TGAA
Acc increased16657wt: 0.30 / mu: 0.50wt: TACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACC
mu: TACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACC		 tcct|GAAC
Acc increased16658wt: 0.51 / mu: 0.64wt: ACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACCA
mu: ACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACCA		 cctg|AACC
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      321EYKRSGRSYGLSVVPEPAGCTPEL
mutated  not conserved    321EYKRSGRSYGLLVVPEPAGCTPE
Ptroglodytes  all identical  ENSPTRG00000016762  321EYKRSGRSYGLSVVPEPAGCTPE
Mmulatta  all identical  ENSMMUG00000012193  320EYKRSGRSYGLSVVPEPAGCTPE
Fcatus  no alignment  ENSFCAG00000000360  n/a
Mmusculus  not conserved  ENSMUSG00000022191  320EYKRSGRSYALPVAPEPAGCTPE
Ggallus  not conserved  ENSGALG00000012916  320DYKRAGS----------------
Trubripes  not conserved  ENSTRUG00000017778  319PHS--------------------
Drerio  not conserved  ENSDARG00000055563  279ARNRSG-----------------
Dmelanogaster  not conserved  FBgn0026722  214-YGSAARN------
Celegans  not conserved  F26E4.10  58PSTSSAPPDTVEKIPLPTESTSA
Xtropicalis  all identical  ENSXETG00000016701  325RPKRYYNLYIVAGSYSVNYAGVKYE
protein features
start (aa)end (aa)featuredetails 
4901374REGIONNecessary for interaction with DGCR8 and pri-miRNA processing activity.might get lost (downstream of altered splice site)
612612CONFLICTL -> P (in Ref. 3; CAB45133).might get lost (downstream of altered splice site)
8761056DOMAINRNase III 1.might get lost (downstream of altered splice site)
993993MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
10201020CONFLICTR -> P (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
10451045MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
11071233DOMAINRNase III 2.might get lost (downstream of altered splice site)
11471147METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
11711171MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
12151215SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
12191219METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12221222MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
12221222METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12301230CONFLICTI -> T (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
12601334DOMAINDRBM.might get lost (downstream of altered splice site)
12631271HELIXmight get lost (downstream of altered splice site)
12751277STRANDmight get lost (downstream of altered splice site)
12841286STRANDmight get lost (downstream of altered splice site)
12921294STRANDmight get lost (downstream of altered splice site)
12981304STRANDmight get lost (downstream of altered splice site)
13121316STRANDmight get lost (downstream of altered splice site)
13171329HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4125 / 4125
position (AA) of stopcodon in wt / mu AA sequence 1375 / 1375
position of stopcodon in wt / mu cDNA 4172 / 4172
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 48 / 48
chromosome 5
strand -1
last intron/exon boundary 4042
theoretical NMD boundary in CDS 3944
length of CDS 4125
coding sequence (CDS) position 962
cDNA position
(for ins/del: last normal base / first normal base)		 1009
gDNA position
(for ins/del: last normal base / first normal base)		 16647
chromosomal position
(for ins/del: last normal base / first normal base)		 31515657
original gDNA sequence snippet TTTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTG
altered gDNA sequence snippet TTTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTG
original cDNA sequence snippet TGGAAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTG
altered cDNA sequence snippet TGGAAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTG
wildtype AA sequence MMQGNTCHRM SFHPGRGCPR GRGGHGARPS APSFRPQNLR LLHPQQPPVQ YQYEPPSAPS
TTFSNSPAPN FLPPRPDFVP FPPPMPPSAQ GPLPPCPIRP PFPNHQMRHP FPVPPCFPPM
PPPMPCPNNP PVPGAPPGQG TFPFMMPPPS MPHPPPPPVM PQQVNYQYPP GYSHHNFPPP
SFNSFQNNPS SFLPSANNSS SPHFRHLPPY PLPKAPSERR SPERLKHYDD HRHRDHSHGR
GERHRSLDRR ERGRSPDRRR QDSRYRSDYD RGRTPSRHRS YERSRERERE RHRHRDNRRS
PSLERSYKKE YKRSGRSYGL SVVPEPAGCT PELPGEIIKN TDSWAPPLEI VNHRSPSREK
KRARWEEEKD RWSDNQSSGK DKNYTSIKEK EPEETMPDKN EEEEEELLKP VWIRCTHSEN
YYSSDPMDQV GDSTVVGTSR LRDLYDKFEE ELGSRQEKAK AARPPWEPPK TKLDEDLESS
SESECESDED STCSSSSDSE VFDVIAEIKR KKAHPDRLHD ELWYNDPGQM NDGPLCKCSA
KARRTGIRHS IYPGEEAIKP CRPMTNNAGR LFHYRITVSP PTNFLTDRPT VIEYDDHEYI
FEGFSMFAHA PLTNIPLCKV IRFNIDYTIH FIEEMMPENF CVKGLELFSL FLFRDILELY
DWNLKGPLFE DSPPCCPRFH FMPRFVRFLP DGGKEVLSMH QILLYLLRCS KALVPEEEIA
NMLQWEELEW QKYAEECKGM IVTNPGTKPS SVRIDQLDRE QFNPDVITFP IIVHFGIRPA
QLSYAGDPQY QKLWKSYVKL RHLLANSPKV KQTDKQKLAQ REEALQKIRQ KNTMRREVTV
ELSSQGFWKT GIRSDVCQHA MMLPVLTHHI RYHQCLMHLD KLIGYTFQDR CLLQLAMTHP
SHHLNFGMNP DHARNSLSNC GIRQPKYGDR KVHHMHMRKK GINTLINIMS RLGQDDPTPS
RINHNERLEF LGDAVVEFLT SVHLYYLFPS LEEGGLATYR TAIVQNQHLA MLAKKLELDR
FMLYAHGPDL CRESDLRHAM ANCFEALIGA VYLEGSLEEA KQLFGRLLFN DPDLREVWLN
YPLHPLQLQE PNTDRQLIET SPVLQKLTEF EEAIGVIFTH VRLLARAFTL RTVGFNHLTL
GHNQRMEFLG DSIMQLVATE YLFIHFPDHH EGHLTLLRSS LVNNRTQAKV AEELGMQEYA
ITNDKTKRPV ALRTKTLADL LESFIAALYI DKDLEYVHTF MNVCFFPRLK EFILNQDWND
PKSQLQQCCL TLRTEGKEPD IPLYKTLQTV GPSHARTYTV AVYFKGERIG CGKGPSIQQA
EMGAAMDALE KYNFPQMAHQ KRFIERKYRQ ELKEMRWERE HQEREPDETE DIKK*
mutated AA sequence MMQGNTCHRM SFHPGRGCPR GRGGHGARPS APSFRPQNLR LLHPQQPPVQ YQYEPPSAPS
TTFSNSPAPN FLPPRPDFVP FPPPMPPSAQ GPLPPCPIRP PFPNHQMRHP FPVPPCFPPM
PPPMPCPNNP PVPGAPPGQG TFPFMMPPPS MPHPPPPPVM PQQVNYQYPP GYSHHNFPPP
SFNSFQNNPS SFLPSANNSS SPHFRHLPPY PLPKAPSERR SPERLKHYDD HRHRDHSHGR
GERHRSLDRR ERGRSPDRRR QDSRYRSDYD RGRTPSRHRS YERSRERERE RHRHRDNRRS
PSLERSYKKE YKRSGRSYGL LVVPEPAGCT PELPGEIIKN TDSWAPPLEI VNHRSPSREK
KRARWEEEKD RWSDNQSSGK DKNYTSIKEK EPEETMPDKN EEEEEELLKP VWIRCTHSEN
YYSSDPMDQV GDSTVVGTSR LRDLYDKFEE ELGSRQEKAK AARPPWEPPK TKLDEDLESS
SESECESDED STCSSSSDSE VFDVIAEIKR KKAHPDRLHD ELWYNDPGQM NDGPLCKCSA
KARRTGIRHS IYPGEEAIKP CRPMTNNAGR LFHYRITVSP PTNFLTDRPT VIEYDDHEYI
FEGFSMFAHA PLTNIPLCKV IRFNIDYTIH FIEEMMPENF CVKGLELFSL FLFRDILELY
DWNLKGPLFE DSPPCCPRFH FMPRFVRFLP DGGKEVLSMH QILLYLLRCS KALVPEEEIA
NMLQWEELEW QKYAEECKGM IVTNPGTKPS SVRIDQLDRE QFNPDVITFP IIVHFGIRPA
QLSYAGDPQY QKLWKSYVKL RHLLANSPKV KQTDKQKLAQ REEALQKIRQ KNTMRREVTV
ELSSQGFWKT GIRSDVCQHA MMLPVLTHHI RYHQCLMHLD KLIGYTFQDR CLLQLAMTHP
SHHLNFGMNP DHARNSLSNC GIRQPKYGDR KVHHMHMRKK GINTLINIMS RLGQDDPTPS
RINHNERLEF LGDAVVEFLT SVHLYYLFPS LEEGGLATYR TAIVQNQHLA MLAKKLELDR
FMLYAHGPDL CRESDLRHAM ANCFEALIGA VYLEGSLEEA KQLFGRLLFN DPDLREVWLN
YPLHPLQLQE PNTDRQLIET SPVLQKLTEF EEAIGVIFTH VRLLARAFTL RTVGFNHLTL
GHNQRMEFLG DSIMQLVATE YLFIHFPDHH EGHLTLLRSS LVNNRTQAKV AEELGMQEYA
ITNDKTKRPV ALRTKTLADL LESFIAALYI DKDLEYVHTF MNVCFFPRLK EFILNQDWND
PKSQLQQCCL TLRTEGKEPD IPLYKTLQTV GPSHARTYTV AVYFKGERIG CGKGPSIQQA
EMGAAMDALE KYNFPQMAHQ KRFIERKYRQ ELKEMRWERE HQEREPDETE DIKK*
speed 1.00 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999793838194 (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) chr5:31515657G>AN/A show variant in all transcripts   IGV
HGNC symbol DROSHA
Ensembl transcript ID ENST00000513349
Genbank transcript ID N/A
UniProt peptide Q9NRR4
alteration type single base exchange
alteration region intron
DNA changes g.16647C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs55656741
databasehomozygous (A/A)heterozygousallele carriers
1000G2958221117
ExAC221351577370
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.620.005
0.5540.008
(flanking)0.1210.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased16648wt: 0.4971 / mu: 0.5043 (marginal change - not scored)wt: TTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTGG
mu: TTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTGG		 atcg|GTTG
Acc increased16656wt: 0.39 / mu: 0.57wt: TTACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACAC
mu: TTACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACAC		 ttcc|TGAA
Acc increased16657wt: 0.30 / mu: 0.50wt: TACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACC
mu: TACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACC		 tcct|GAAC
Acc increased16658wt: 0.51 / mu: 0.64wt: ACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACCA
mu: ACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACCA		 cctg|AACC
distance from splice site 331
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
219316COMPBIASArg-rich.might get lost (downstream of altered splice site)
4901374REGIONNecessary for interaction with DGCR8 and pri-miRNA processing activity.might get lost (downstream of altered splice site)
612612CONFLICTL -> P (in Ref. 3; CAB45133).might get lost (downstream of altered splice site)
8761056DOMAINRNase III 1.might get lost (downstream of altered splice site)
993993MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
10201020CONFLICTR -> P (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
10451045MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
11071233DOMAINRNase III 2.might get lost (downstream of altered splice site)
11471147METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
11711171MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
12151215SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
12191219METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12221222METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12221222MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
12301230CONFLICTI -> T (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
12601334DOMAINDRBM.might get lost (downstream of altered splice site)
12631271HELIXmight get lost (downstream of altered splice site)
12751277STRANDmight get lost (downstream of altered splice site)
12841286STRANDmight get lost (downstream of altered splice site)
12921294STRANDmight get lost (downstream of altered splice site)
12981304STRANDmight get lost (downstream of altered splice site)
13121316STRANDmight get lost (downstream of altered splice site)
13171329HELIXmight 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 370 / 370
chromosome 5
strand -1
last intron/exon boundary 4253
theoretical NMD boundary in CDS 3833
length of CDS 4014
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 16647
chromosomal position
(for ins/del: last normal base / first normal base)		 31515657
original gDNA sequence snippet TTTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTG
altered gDNA sequence snippet TTTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MMQGNTCHRM SFHPGRGCPR GRGGHGARPS APSFRPQNLR LLHPQQPPVQ YQYEPPSAPS
TTFSNSPAPN FLPPRPDFVP FPPPMPPSAQ GPLPPCPIRP PFPNHQMRHP FPVPPCFPPM
PPPMPCPNNP PVPGAPPGQG TFPFMMPPPS MPHPPPPPVM PQQVNYQYPP GYSHHNFPPP
SFNSFQNNPS SFLPSANNSS SPHFRHLPPY PLPKAPSERR SPERLKHYDD HRHRDHSHGR
GERHRSLDRR ERGRSPDRRR QDSRYRSDYD RGRTPSRHRS YERSRERERE RHRHRDNRRS
PSLERSYKKE YKRSGSRSPS REKKRARWEE EKDRWSDNQS SGKDKNYTSI KEKEPEETMP
DKNEEEEEEL LKPVWIRCTH SENYYSSDPM DQVGDSTVVG TSRLRDLYDK FEEELGSRQE
KAKAARPPWE PPKTKLDEDL ESSSESECES DEDSTCSSSS DSEVFDVIAE IKRKKAHPDR
LHDELWYNDP GQMNDGPLCK CSAKARRTGI RHSIYPGEEA IKPCRPMTNN AGRLFHYRIT
VSPPTNFLTD RPTVIEYDDH EYIFEGFSMF AHAPLTNIPL CKVIRFNIDY TIHFIEEMMP
ENFCVKGLEL FSLFLFRDIL ELYDWNLKGP LFEDSPPCCP RFHFMPRFVR FLPDGGKEVL
SMHQILLYLL RCSKALVPEE EIANMLQWEE LEWQKYAEEC KGMIVTNPGT KPSSVRIDQL
DREQFNPDVI TFPIIVHFGI RPAQLSYAGD PQYQKLWKSY VKLRHLLANS PKVKQTDKQK
LAQREEALQK IRQKNTMRRE VTVELSSQGF WKTGIRSDVC QHAMMLPVLT HHIRYHQCLM
HLDKLIGYTF QDRCLLQLAM THPSHHLNFG MNPDHARNSL SNCGIRQPKY GDRKVHHMHM
RKKGINTLIN IMSRLGQDDP TPSRINHNER LEFLGDAVVE FLTSVHLYYL FPSLEEGGLA
TYRTAIVQNQ HLAMLAKKLE LDRFMLYAHG PDLCRESDLR HAMANCFEAL IGAVYLEGSL
EEAKQLFGRL LFNDPDLREV WLNYPLHPLQ LQEPNTDRQL IETSPVLQKL TEFEEAIGVI
FTHVRLLARA FTLRTVGFNH LTLGHNQRME FLGDSIMQLV ATEYLFIHFP DHHEGHLTLL
RSSLVNNRTQ AKVAEELGMQ EYAITNDKTK RPVALRTKTL ADLLESFIAA LYIDKDLEYV
HTFMNVCFFP RLKEFILNQD WNDPKSQLQQ CCLTLRTEGK EPDIPLYKTL QTVGPSHART
YTVAVYFKGE RIGCGKGPSI QQAEMGAAMD ALEKYNFPQM AHQKRFIERK YRQELKEMRW
EREHQEREPD ETEDIKK*
mutated AA sequence N/A
speed 0.63 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999793838194 (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) chr5:31515657G>AN/A show variant in all transcripts   IGV
HGNC symbol DROSHA
Ensembl transcript ID ENST00000442743
Genbank transcript ID NM_001100412
UniProt peptide Q9NRR4
alteration type single base exchange
alteration region intron
DNA changes g.16647C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs55656741
databasehomozygous (A/A)heterozygousallele carriers
1000G2958221117
ExAC221351577370
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.620.005
0.5540.008
(flanking)0.1210.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased16648wt: 0.4971 / mu: 0.5043 (marginal change - not scored)wt: TTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTGG
mu: TTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTGG		 atcg|GTTG
Acc increased16656wt: 0.39 / mu: 0.57wt: TTACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACAC
mu: TTACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACAC		 ttcc|TGAA
Acc increased16657wt: 0.30 / mu: 0.50wt: TACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACC
mu: TACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACC		 tcct|GAAC
Acc increased16658wt: 0.51 / mu: 0.64wt: ACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACCA
mu: ACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACCA		 cctg|AACC
distance from splice site 331
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
219316COMPBIASArg-rich.might get lost (downstream of altered splice site)
4901374REGIONNecessary for interaction with DGCR8 and pri-miRNA processing activity.might get lost (downstream of altered splice site)
612612CONFLICTL -> P (in Ref. 3; CAB45133).might get lost (downstream of altered splice site)
8761056DOMAINRNase III 1.might get lost (downstream of altered splice site)
993993MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
10201020CONFLICTR -> P (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
10451045MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
11071233DOMAINRNase III 2.might get lost (downstream of altered splice site)
11471147METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
11711171MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
12151215SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
12191219METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12221222METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12221222MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
12301230CONFLICTI -> T (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
12601334DOMAINDRBM.might get lost (downstream of altered splice site)
12631271HELIXmight get lost (downstream of altered splice site)
12751277STRANDmight get lost (downstream of altered splice site)
12841286STRANDmight get lost (downstream of altered splice site)
12921294STRANDmight get lost (downstream of altered splice site)
12981304STRANDmight get lost (downstream of altered splice site)
13121316STRANDmight get lost (downstream of altered splice site)
13171329HELIXmight 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 48 / 48
chromosome 5
strand -1
last intron/exon boundary 3931
theoretical NMD boundary in CDS 3833
length of CDS 4014
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 16647
chromosomal position
(for ins/del: last normal base / first normal base)		 31515657
original gDNA sequence snippet TTTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTG
altered gDNA sequence snippet TTTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MMQGNTCHRM SFHPGRGCPR GRGGHGARPS APSFRPQNLR LLHPQQPPVQ YQYEPPSAPS
TTFSNSPAPN FLPPRPDFVP FPPPMPPSAQ GPLPPCPIRP PFPNHQMRHP FPVPPCFPPM
PPPMPCPNNP PVPGAPPGQG TFPFMMPPPS MPHPPPPPVM PQQVNYQYPP GYSHHNFPPP
SFNSFQNNPS SFLPSANNSS SPHFRHLPPY PLPKAPSERR SPERLKHYDD HRHRDHSHGR
GERHRSLDRR ERGRSPDRRR QDSRYRSDYD RGRTPSRHRS YERSRERERE RHRHRDNRRS
PSLERSYKKE YKRSGSRSPS REKKRARWEE EKDRWSDNQS SGKDKNYTSI KEKEPEETMP
DKNEEEEEEL LKPVWIRCTH SENYYSSDPM DQVGDSTVVG TSRLRDLYDK FEEELGSRQE
KAKAARPPWE PPKTKLDEDL ESSSESECES DEDSTCSSSS DSEVFDVIAE IKRKKAHPDR
LHDELWYNDP GQMNDGPLCK CSAKARRTGI RHSIYPGEEA IKPCRPMTNN AGRLFHYRIT
VSPPTNFLTD RPTVIEYDDH EYIFEGFSMF AHAPLTNIPL CKVIRFNIDY TIHFIEEMMP
ENFCVKGLEL FSLFLFRDIL ELYDWNLKGP LFEDSPPCCP RFHFMPRFVR FLPDGGKEVL
SMHQILLYLL RCSKALVPEE EIANMLQWEE LEWQKYAEEC KGMIVTNPGT KPSSVRIDQL
DREQFNPDVI TFPIIVHFGI RPAQLSYAGD PQYQKLWKSY VKLRHLLANS PKVKQTDKQK
LAQREEALQK IRQKNTMRRE VTVELSSQGF WKTGIRSDVC QHAMMLPVLT HHIRYHQCLM
HLDKLIGYTF QDRCLLQLAM THPSHHLNFG MNPDHARNSL SNCGIRQPKY GDRKVHHMHM
RKKGINTLIN IMSRLGQDDP TPSRINHNER LEFLGDAVVE FLTSVHLYYL FPSLEEGGLA
TYRTAIVQNQ HLAMLAKKLE LDRFMLYAHG PDLCRESDLR HAMANCFEAL IGAVYLEGSL
EEAKQLFGRL LFNDPDLREV WLNYPLHPLQ LQEPNTDRQL IETSPVLQKL TEFEEAIGVI
FTHVRLLARA FTLRTVGFNH LTLGHNQRME FLGDSIMQLV ATEYLFIHFP DHHEGHLTLL
RSSLVNNRTQ AKVAEELGMQ EYAITNDKTK RPVALRTKTL ADLLESFIAA LYIDKDLEYV
HTFMNVCFFP RLKEFILNQD WNDPKSQLQQ CCLTLRTEGK EPDIPLYKTL QTVGPSHART
YTVAVYFKGE RIGCGKGPSI QQAEMGAAMD ALEKYNFPQM AHQKRFIERK YRQELKEMRW
EREHQEREPD ETEDIKK*
mutated AA sequence N/A
speed 0.65 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

Problems