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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000541714
Querying Taster for transcript #2: ENST00000590545
Querying Taster for transcript #3: ENST00000539908
Querying Taster for transcript #4: ENST00000589378
Querying Taster for transcript #5: ENST00000587686
Querying Taster for transcript #6: ENST00000262968
Querying Taster for transcript #7: ENST00000382008
MT speed 0 s - this script 6.98525 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TJP3polymorphism_automatic0.957955988539034simple_aaeaffectedR38Hsingle base exchangers2067019show file
TJP3polymorphism_automatic0.957955988539034simple_aaeaffectedR19Hsingle base exchangers2067019show file
TJP3polymorphism_automatic0.976380725262402simple_aaeaffectedR28Hsingle base exchangers2067019show file
TJP3polymorphism_automatic0.976380725262402simple_aaeaffectedR19Hsingle base exchangers2067019show file
TJP3polymorphism_automatic0.976380725262402simple_aaeaffectedR38Hsingle base exchangers2067019show file
TJP3polymorphism_automatic1without_aaeaffectedsingle base exchangers2067019show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0420440114609665 (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) chr19:3728609G>AN/A show variant in all transcripts   IGV
HGNC symbol TJP3
Ensembl transcript ID ENST00000262968
Genbank transcript ID NM_001267560
UniProt peptide O95049
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.113G>A
g.20503G>A
AA changes R38H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs2067019
databasehomozygous (A/A)heterozygousallele carriers
1000G2429561198
ExAC39412071324654
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Max, Transcription Factor, Max TF binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8270.995
2.0170.992
(flanking)-0.1170.909
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20506wt: 0.52 / mu: 0.59wt: CCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGATCT
mu: CCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGATCT		 gccg|GGGC
Acc marginally decreased20495wt: 0.9733 / mu: 0.9640 (marginal change - not scored)wt: CTTCCCCTCATCCTCTCTCAGGACCCCCGCCGGGGCTTTGG
mu: CTTCCCCTCATCCTCTCTCAGGACCCCCACCGGGGCTTTGG		 tcag|GACC
Donor gained205030.31mu: CCCCCACCGGGGCTT CCCA|ccgg
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38EQHTATLSKDPRRGFGIAISGGRD
mutated  not conserved    38EQHTATLSKDPHRGFGIAISGGR
Ptroglodytes  all identical  ENSPTRG00000010274  38EQHTATLSKDPRRGFGIAISGGR
Mmulatta  no alignment  ENSMMUG00000028930  n/a
Fcatus  all identical  ENSFCAG00000007142  38EQHTATLCKDPRRGFGIAISGGR
Mmusculus  all identical  ENSMUSG00000034917  19EQHTATLYKDPRRGFGIAVSGGH
Ggallus  not conserved  ENSGALG00000000748  38EQHTVTLSKDPHRGFGFAVSGGR
Trubripes  all conserved  ENSTRUG00000018210  38EQHTITLSKDPKFGFGFAISGGK
Drerio  not conserved  ENSDARG00000002909  180TTLIKKKPTDEYGMKL----
Dmelanogaster  not conserved  FBgn0262614  31EYHTVAVTRVPGYGFGIAVSGGR
Celegans  not conserved  Y105E8A.26  50QLLSVSLHRAANLGFGIAISGGR
Xtropicalis  all identical  ENSXETG00000006407  19EQYTVTLIRDPRRGFGIAISGGR
protein features
start (aa)end (aa)featuredetails 
1193DOMAINPDZ 1.lost
112112MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
159159MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
164164MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
169169MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
195272DOMAINPDZ 2.might get lost (downstream of altered splice site)
203203MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
394460DOMAINPDZ 3.might get lost (downstream of altered splice site)
489563DOMAINSH3.might get lost (downstream of altered splice site)
492496STRANDmight get lost (downstream of altered splice site)
504507STRANDmight get lost (downstream of altered splice site)
515520STRANDmight get lost (downstream of altered splice site)
536541STRANDmight get lost (downstream of altered splice site)
547553STRANDmight get lost (downstream of altered splice site)
556569HELIXmight get lost (downstream of altered splice site)
579579MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
594775DOMAINGuanylate kinase-like.might get lost (downstream of altered splice site)
605605MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
610616HELIXmight get lost (downstream of altered splice site)
620628STRANDmight get lost (downstream of altered splice site)
635639STRANDmight get lost (downstream of altered splice site)
642652HELIXmight get lost (downstream of altered splice site)
654656TURNmight get lost (downstream of altered splice site)
657659STRANDmight get lost (downstream of altered splice site)
675683HELIXmight get lost (downstream of altered splice site)
687690STRANDmight get lost (downstream of altered splice site)
694702HELIXmight get lost (downstream of altered splice site)
708715STRANDmight get lost (downstream of altered splice site)
717727HELIXmight get lost (downstream of altered splice site)
735749HELIXmight get lost (downstream of altered splice site)
750752HELIXmight get lost (downstream of altered splice site)
754759STRANDmight get lost (downstream of altered splice site)
761763STRANDmight get lost (downstream of altered splice site)
765777HELIXmight get lost (downstream of altered splice site)
780785STRANDmight get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
920920MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2859 / 2859
position (AA) of stopcodon in wt / mu AA sequence 953 / 953
position of stopcodon in wt / mu cDNA 2859 / 2859
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 19
strand 1
last intron/exon boundary 2757
theoretical NMD boundary in CDS 2706
length of CDS 2859
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 113
gDNA position
(for ins/del: last normal base / first normal base)		 20503
chromosomal position
(for ins/del: last normal base / first normal base)		 3728609
original gDNA sequence snippet CATCCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered gDNA sequence snippet CATCCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGA
original cDNA sequence snippet CACACTGTCCAAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered cDNA sequence snippet CACACTGTCCAAGGACCCCCACCGGGGCTTTGGCATTGCGA
wildtype AA sequence MNLCGLMPIF PAPLDQVADM EELTIWEQHT ATLSKDPRRG FGIAISGGRD RPGGSMVVSD
VVPGGPAEGR LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK
ASPSSPGRQD SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG
RRSPGGGSEA NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD
SGLAARHRGL QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP
AVSDSDSSPL EEGVTMADEM SSPPADISDL ASELSQAPPS HIPPPPRHAQ RSPEASQTDS
PVESPRLRRE SSVDSRTISE PDEQRSELPR ESSYDIYRVP SSQSMEDRGY SPDTRVVRFL
KGKSIGLRLA GGNDVGIFVS GVQAGSPADG QGIQEGDQIL QVNDVPFQNL TREEAVQFLL
GLPPGEEMEL VTQRKQDIFW KMVQSRVGDS FYIRTHFELE PSPPSGLGFT RGDVFHVLDT
LHPGPGQSHA RGGHWLAVRM GRDLREQERG IIPNQSRAEQ LASLEAAQRA VGVGPGSSAG
SNARAEFWRL RGLRRGAKKT TQRSREDLSA LTRQGRYPPY ERVVLREASF KRPVVILGPV
ADIAMQKLTA EMPDQFEIAE TVSRTDSPSK IIKLDTVRVI AEKDKHALLD VTPSAIERLN
YVQYYPIVVF FIPESRPALK ALRQWLAPAS RRSTRRLYAQ AQKLRKHSSH LFTATIPLNG
TSDTWYQELK AIIREQQTRP IWTAEDQLDG SLEDNLDLPH HGLADSSADL SCDSRVNSDY
ETDGEGGAYT DGEGYTDGEG GPYTDVDDEP PAPALARSSE PVQADESQSP RDRGRISAHQ
GAQVDSRHPQ GQWRQDSMRT YEREALKKKF MRVHDAESSD EDGYDWGPAT DL*
mutated AA sequence MNLCGLMPIF PAPLDQVADM EELTIWEQHT ATLSKDPHRG FGIAISGGRD RPGGSMVVSD
VVPGGPAEGR LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK
ASPSSPGRQD SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG
RRSPGGGSEA NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD
SGLAARHRGL QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP
AVSDSDSSPL EEGVTMADEM SSPPADISDL ASELSQAPPS HIPPPPRHAQ RSPEASQTDS
PVESPRLRRE SSVDSRTISE PDEQRSELPR ESSYDIYRVP SSQSMEDRGY SPDTRVVRFL
KGKSIGLRLA GGNDVGIFVS GVQAGSPADG QGIQEGDQIL QVNDVPFQNL TREEAVQFLL
GLPPGEEMEL VTQRKQDIFW KMVQSRVGDS FYIRTHFELE PSPPSGLGFT RGDVFHVLDT
LHPGPGQSHA RGGHWLAVRM GRDLREQERG IIPNQSRAEQ LASLEAAQRA VGVGPGSSAG
SNARAEFWRL RGLRRGAKKT TQRSREDLSA LTRQGRYPPY ERVVLREASF KRPVVILGPV
ADIAMQKLTA EMPDQFEIAE TVSRTDSPSK IIKLDTVRVI AEKDKHALLD VTPSAIERLN
YVQYYPIVVF FIPESRPALK ALRQWLAPAS RRSTRRLYAQ AQKLRKHSSH LFTATIPLNG
TSDTWYQELK AIIREQQTRP IWTAEDQLDG SLEDNLDLPH HGLADSSADL SCDSRVNSDY
ETDGEGGAYT DGEGYTDGEG GPYTDVDDEP PAPALARSSE PVQADESQSP RDRGRISAHQ
GAQVDSRHPQ GQWRQDSMRT YEREALKKKF MRVHDAESSD EDGYDWGPAT DL*
speed 1.23 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: 0.0420440114609665 (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) chr19:3728609G>AN/A show variant in all transcripts   IGV
HGNC symbol TJP3
Ensembl transcript ID ENST00000382008
Genbank transcript ID N/A
UniProt peptide O95049
alteration type single base exchange
alteration region CDS
DNA changes c.56G>A
cDNA.239G>A
g.20503G>A
AA changes R19H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 19
frameshift no
known variant Reference ID: rs2067019
databasehomozygous (A/A)heterozygousallele carriers
1000G2429561198
ExAC39412071324654
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Max, Transcription Factor, Max TF binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8270.995
2.0170.992
(flanking)-0.1170.909
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20506wt: 0.52 / mu: 0.59wt: CCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGATCT
mu: CCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGATCT		 gccg|GGGC
Acc marginally decreased20495wt: 0.9733 / mu: 0.9640 (marginal change - not scored)wt: CTTCCCCTCATCCTCTCTCAGGACCCCCGCCGGGGCTTTGG
mu: CTTCCCCTCATCCTCTCTCAGGACCCCCACCGGGGCTTTGG		 tcag|GACC
Donor gained205030.31mu: CCCCCACCGGGGCTT CCCA|ccgg
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      19EQHTATLSKDPRRGFGIAISGGRD
mutated  not conserved    19EQHTATLSKDPHRGFGIAISGGR
Ptroglodytes  all identical  ENSPTRG00000010274  38EQHTATLSKDPRRGFGIAISGGR
Mmulatta  no alignment  ENSMMUG00000028930  n/a
Fcatus  all identical  ENSFCAG00000007142  37EQHTATLCKDPRRGFGIAISGGR
Mmusculus  all identical  ENSMUSG00000034917  19EQHTATLYKDPRRGFGIAVSGGH
Ggallus  not conserved  ENSGALG00000000748  38EQHTVTLSKDPHRGFGFAVSGGR
Trubripes  all conserved  ENSTRUG00000018210  38EQHTITLSKDPKFGFGFAISGGK
Drerio  not conserved  ENSDARG00000002909  180TTLIKKKPTDEYGMKL----
Dmelanogaster  not conserved  FBgn0262614  31EYHTVAVTRVPGYGFGIAVSGGR
Celegans  not conserved  Y105E8A.26  53QLLSVSLHRAANLGFGIAISGGR
Xtropicalis  all identical  ENSXETG00000006407  19EQYTVTLIRDPRRGFGIAISGGR
protein features
start (aa)end (aa)featuredetails 
1193DOMAINPDZ 1.lost
1919CONFLICTR -> H (in Ref. 3; AAI08907).lost
112112MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
159159MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
164164MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
169169MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
195272DOMAINPDZ 2.might get lost (downstream of altered splice site)
203203MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
394460DOMAINPDZ 3.might get lost (downstream of altered splice site)
489563DOMAINSH3.might get lost (downstream of altered splice site)
492496STRANDmight get lost (downstream of altered splice site)
504507STRANDmight get lost (downstream of altered splice site)
515520STRANDmight get lost (downstream of altered splice site)
536541STRANDmight get lost (downstream of altered splice site)
547553STRANDmight get lost (downstream of altered splice site)
556569HELIXmight get lost (downstream of altered splice site)
579579MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
594775DOMAINGuanylate kinase-like.might get lost (downstream of altered splice site)
605605MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
610616HELIXmight get lost (downstream of altered splice site)
620628STRANDmight get lost (downstream of altered splice site)
635639STRANDmight get lost (downstream of altered splice site)
642652HELIXmight get lost (downstream of altered splice site)
654656TURNmight get lost (downstream of altered splice site)
657659STRANDmight get lost (downstream of altered splice site)
675683HELIXmight get lost (downstream of altered splice site)
687690STRANDmight get lost (downstream of altered splice site)
694702HELIXmight get lost (downstream of altered splice site)
708715STRANDmight get lost (downstream of altered splice site)
717727HELIXmight get lost (downstream of altered splice site)
735749HELIXmight get lost (downstream of altered splice site)
750752HELIXmight get lost (downstream of altered splice site)
754759STRANDmight get lost (downstream of altered splice site)
761763STRANDmight get lost (downstream of altered splice site)
765777HELIXmight get lost (downstream of altered splice site)
780785STRANDmight get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
920920MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2802 / 2802
position (AA) of stopcodon in wt / mu AA sequence 934 / 934
position of stopcodon in wt / mu cDNA 2985 / 2985
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 184 / 184
chromosome 19
strand 1
last intron/exon boundary 2883
theoretical NMD boundary in CDS 2649
length of CDS 2802
coding sequence (CDS) position 56
cDNA position
(for ins/del: last normal base / first normal base)		 239
gDNA position
(for ins/del: last normal base / first normal base)		 20503
chromosomal position
(for ins/del: last normal base / first normal base)		 3728609
original gDNA sequence snippet CATCCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered gDNA sequence snippet CATCCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGA
original cDNA sequence snippet CACACTGTCCAAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered cDNA sequence snippet CACACTGTCCAAGGACCCCCACCGGGGCTTTGGCATTGCGA
wildtype AA sequence MEELTIWEQH TATLSKDPRR GFGIAISGGR DRPGGSMVVS DVVPGGPAEG RLQTGDHIVM
VNGVSMENAT SAFAIQILKT CTKMANITVK RPRRIHLPAT KASPSSPGRQ DSDEDDGPQR
VEEVDQGRGY DGDSSSGSGR SWDERSRRPR PGRRGRAGSH GRRSPGGGSE ANGLALVSGF
KRLPRQDVQM KPVKSVLVKR RDSEEFGVKL GSQIFIKHIT DSGLAARHRG LQEGDLILQI
NGVSSQNLSL NDTRRLIEKS EGKLSLLVLR DRGQFLVNIP PAVSDSDSSP LEEGVTMADE
MSSPPADISD LASELSQAPP SHIPPPPRHA QRSPEASQTD SPVESPRLRR ESSVDSRTIS
EPDEQRSELP RESSYDIYRV PSSQSMEDRG YSPDTRVVRF LKGKSIGLRL AGGNDVGIFV
SGVQAGSPAD GQGIQEGDQI LQVNDVPFQN LTREEAVQFL LGLPPGEEME LVTQRKQDIF
WKMVQSRVGD SFYIRTHFEL EPSPPSGLGF TRGDVFHVLD TLHPGPGQSH ARGGHWLAVR
MGRDLREQER GIIPNQSRAE QLASLEAAQR AVGVGPGSSA GSNARAEFWR LRGLRRGAKK
TTQRSREDLS ALTRQGRYPP YERVVLREAS FKRPVVILGP VADIAMQKLT AEMPDQFEIA
ETVSRTDSPS KIIKLDTVRV IAEKDKHALL DVTPSAIERL NYVQYYPIVV FFIPESRPAL
KALRQWLAPA SRRSTRRLYA QAQKLRKHSS HLFTATIPLN GTSDTWYQEL KAIIREQQTR
PIWTAEDQLD GSLEDNLDLP HHGLADSSAD LSCDSRVNSD YETDGEGGAY TDGEGYTDGE
GGPYTDVDDE PPAPALARSS EPVQADESQS PRDRGRISAH QGAQVDSRHP QGQWRQDSMR
TYEREALKKK FMRVHDAESS DEDGYDWGPA TDL*
mutated AA sequence MEELTIWEQH TATLSKDPHR GFGIAISGGR DRPGGSMVVS DVVPGGPAEG RLQTGDHIVM
VNGVSMENAT SAFAIQILKT CTKMANITVK RPRRIHLPAT KASPSSPGRQ DSDEDDGPQR
VEEVDQGRGY DGDSSSGSGR SWDERSRRPR PGRRGRAGSH GRRSPGGGSE ANGLALVSGF
KRLPRQDVQM KPVKSVLVKR RDSEEFGVKL GSQIFIKHIT DSGLAARHRG LQEGDLILQI
NGVSSQNLSL NDTRRLIEKS EGKLSLLVLR DRGQFLVNIP PAVSDSDSSP LEEGVTMADE
MSSPPADISD LASELSQAPP SHIPPPPRHA QRSPEASQTD SPVESPRLRR ESSVDSRTIS
EPDEQRSELP RESSYDIYRV PSSQSMEDRG YSPDTRVVRF LKGKSIGLRL AGGNDVGIFV
SGVQAGSPAD GQGIQEGDQI LQVNDVPFQN LTREEAVQFL LGLPPGEEME LVTQRKQDIF
WKMVQSRVGD SFYIRTHFEL EPSPPSGLGF TRGDVFHVLD TLHPGPGQSH ARGGHWLAVR
MGRDLREQER GIIPNQSRAE QLASLEAAQR AVGVGPGSSA GSNARAEFWR LRGLRRGAKK
TTQRSREDLS ALTRQGRYPP YERVVLREAS FKRPVVILGP VADIAMQKLT AEMPDQFEIA
ETVSRTDSPS KIIKLDTVRV IAEKDKHALL DVTPSAIERL NYVQYYPIVV FFIPESRPAL
KALRQWLAPA SRRSTRRLYA QAQKLRKHSS HLFTATIPLN GTSDTWYQEL KAIIREQQTR
PIWTAEDQLD GSLEDNLDLP HHGLADSSAD LSCDSRVNSD YETDGEGGAY TDGEGYTDGE
GGPYTDVDDE PPAPALARSS EPVQADESQS PRDRGRISAH QGAQVDSRHP QGQWRQDSMR
TYEREALKKK FMRVHDAESS DEDGYDWGPA TDL*
speed 0.99 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: 0.0236192747375977 (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) chr19:3728609G>AN/A show variant in all transcripts   IGV
HGNC symbol TJP3
Ensembl transcript ID ENST00000589378
Genbank transcript ID NM_001267561
UniProt peptide O95049
alteration type single base exchange
alteration region CDS
DNA changes c.83G>A
cDNA.239G>A
g.20503G>A
AA changes R28H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 28
frameshift no
known variant Reference ID: rs2067019
databasehomozygous (A/A)heterozygousallele carriers
1000G2429561198
ExAC39412071324654
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Max, Transcription Factor, Max TF binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8270.995
2.0170.992
(flanking)-0.1170.909
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20506wt: 0.52 / mu: 0.59wt: CCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGATCT
mu: CCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGATCT		 gccg|GGGC
Acc marginally decreased20495wt: 0.9733 / mu: 0.9640 (marginal change - not scored)wt: CTTCCCCTCATCCTCTCTCAGGACCCCCGCCGGGGCTTTGG
mu: CTTCCCCTCATCCTCTCTCAGGACCCCCACCGGGGCTTTGG		 tcag|GACC
Donor gained205030.31mu: CCCCCACCGGGGCTT CCCA|ccgg
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      28EQHTATLSKDPRRGFGIAISGGRD
mutated  not conserved    28EQHTATLSKDPHRGFGIAISGGR
Ptroglodytes  all identical  ENSPTRG00000010274  38EQHTATLSKDPRRGFGIAISGGR
Mmulatta  no alignment  ENSMMUG00000028930  n/a
Fcatus  all identical  ENSFCAG00000007142  37EQHTATLCKDPRRGFGIAISGGR
Mmusculus  all identical  ENSMUSG00000034917  19EQHTATLYKDPRRGFGIAVSGGH
Ggallus  not conserved  ENSGALG00000000748  38EQHTVTLSKDPHRGFGFAVSGGR
Trubripes  all conserved  ENSTRUG00000018210  38EQHTITLSKDPKFGFGFAISGGK
Drerio  all conserved  ENSDARG00000002909  19EQHTVTLSKDSKVGFGFAVSGGL
Dmelanogaster  not conserved  FBgn0262614  31EYHTVAVTRVPGYGFGIAVSGGR
Celegans  not conserved  Y105E8A.26  53QLLSVSLHRAANLGFGIAISGGR
Xtropicalis  all identical  ENSXETG00000006407  19EQYTVTLIRDPRRGFGIAISGGR
protein features
start (aa)end (aa)featuredetails 
1193DOMAINPDZ 1.lost
112112MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
159159MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
164164MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
169169MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
195272DOMAINPDZ 2.might get lost (downstream of altered splice site)
203203MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
394460DOMAINPDZ 3.might get lost (downstream of altered splice site)
489563DOMAINSH3.might get lost (downstream of altered splice site)
492496STRANDmight get lost (downstream of altered splice site)
504507STRANDmight get lost (downstream of altered splice site)
515520STRANDmight get lost (downstream of altered splice site)
536541STRANDmight get lost (downstream of altered splice site)
547553STRANDmight get lost (downstream of altered splice site)
556569HELIXmight get lost (downstream of altered splice site)
579579MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
594775DOMAINGuanylate kinase-like.might get lost (downstream of altered splice site)
605605MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
610616HELIXmight get lost (downstream of altered splice site)
620628STRANDmight get lost (downstream of altered splice site)
635639STRANDmight get lost (downstream of altered splice site)
642652HELIXmight get lost (downstream of altered splice site)
654656TURNmight get lost (downstream of altered splice site)
657659STRANDmight get lost (downstream of altered splice site)
675683HELIXmight get lost (downstream of altered splice site)
687690STRANDmight get lost (downstream of altered splice site)
694702HELIXmight get lost (downstream of altered splice site)
708715STRANDmight get lost (downstream of altered splice site)
717727HELIXmight get lost (downstream of altered splice site)
735749HELIXmight get lost (downstream of altered splice site)
750752HELIXmight get lost (downstream of altered splice site)
754759STRANDmight get lost (downstream of altered splice site)
761763STRANDmight get lost (downstream of altered splice site)
765777HELIXmight get lost (downstream of altered splice site)
780785STRANDmight get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
920920MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2787 / 2787
position (AA) of stopcodon in wt / mu AA sequence 929 / 929
position of stopcodon in wt / mu cDNA 2943 / 2943
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 157 / 157
chromosome 19
strand 1
last intron/exon boundary 2841
theoretical NMD boundary in CDS 2634
length of CDS 2787
coding sequence (CDS) position 83
cDNA position
(for ins/del: last normal base / first normal base)		 239
gDNA position
(for ins/del: last normal base / first normal base)		 20503
chromosomal position
(for ins/del: last normal base / first normal base)		 3728609
original gDNA sequence snippet CATCCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered gDNA sequence snippet CATCCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGA
original cDNA sequence snippet CACACTGTCCAAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered cDNA sequence snippet CACACTGTCCAAGGACCCCCACCGGGGCTTTGGCATTGCGA
wildtype AA sequence MAVRFQVADM EELTIWEQHT ATLSKDPRRG FGIAISGGRD RPGGSMVVSD VVPGGPAEGR
LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK ASPSSPGRQD
SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG RRSPGGGSEA
NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD SGLAARHRGL
QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP AVSDSDSSPL
EDISDLASEL SQAPPSHIPP PPRHAQRSPE ASQTDSPVES PRLRRESSVD SRTISEPDEQ
RSELPRESSY DIYRVPSSQS MEDRGYSPDT RVVRFLKGKS IGLRLAGGND VGIFVSGVQA
GSPADGQGIQ EGDQILQVND VPFQNLTREE AVQFLLGLPP GEEMELVTQR KQDIFWKMVQ
SRVGDSFYIR THFELEPSPP SGLGFTRGDV FHVLDTLHPG PGQSHARGGH WLAVRMGRDL
REQERGIIPN QSRAEQLASL EAAQRAVGVG PGSSAGSNAR AEFWRLRGLR RGAKKTTQRS
REDLSALTRQ GRYPPYERVV LREASFKRPV VILGPVADIA MQKLTAEMPD QFEIAETVSR
TDSPSKIIKL DTVRVIAEKD KHALLDVTPS AIERLNYVQY YPIVVFFIPE SRPALKALRQ
WLAPASRRST RRLYAQAQKL RKHSSHLFTA TIPLNGTSDT WYQELKAIIR EQQTRPIWTA
EDQLDGSLED NLDLPHHGLA DSSADLSCDS RVNSDYETDG EGGAYTDGEG YTDGEGGPYT
DVDDEPPAPA LARSSEPVQA DESQSPRDRG RISAHQGAQV DSRHPQGQWR QDSMRTYERE
ALKKKFMRVH DAESSDEDGY DWGPATDL*
mutated AA sequence MAVRFQVADM EELTIWEQHT ATLSKDPHRG FGIAISGGRD RPGGSMVVSD VVPGGPAEGR
LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK ASPSSPGRQD
SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG RRSPGGGSEA
NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD SGLAARHRGL
QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP AVSDSDSSPL
EDISDLASEL SQAPPSHIPP PPRHAQRSPE ASQTDSPVES PRLRRESSVD SRTISEPDEQ
RSELPRESSY DIYRVPSSQS MEDRGYSPDT RVVRFLKGKS IGLRLAGGND VGIFVSGVQA
GSPADGQGIQ EGDQILQVND VPFQNLTREE AVQFLLGLPP GEEMELVTQR KQDIFWKMVQ
SRVGDSFYIR THFELEPSPP SGLGFTRGDV FHVLDTLHPG PGQSHARGGH WLAVRMGRDL
REQERGIIPN QSRAEQLASL EAAQRAVGVG PGSSAGSNAR AEFWRLRGLR RGAKKTTQRS
REDLSALTRQ GRYPPYERVV LREASFKRPV VILGPVADIA MQKLTAEMPD QFEIAETVSR
TDSPSKIIKL DTVRVIAEKD KHALLDVTPS AIERLNYVQY YPIVVFFIPE SRPALKALRQ
WLAPASRRST RRLYAQAQKL RKHSSHLFTA TIPLNGTSDT WYQELKAIIR EQQTRPIWTA
EDQLDGSLED NLDLPHHGLA DSSADLSCDS RVNSDYETDG EGGAYTDGEG YTDGEGGPYT
DVDDEPPAPA LARSSEPVQA DESQSPRDRG RISAHQGAQV DSRHPQGQWR QDSMRTYERE
ALKKKFMRVH DAESSDEDGY DWGPATDL*
speed 0.44 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: 0.0236192747375976 (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) chr19:3728609G>AN/A show variant in all transcripts   IGV
HGNC symbol TJP3
Ensembl transcript ID ENST00000541714
Genbank transcript ID N/A
UniProt peptide O95049
alteration type single base exchange
alteration region CDS
DNA changes c.56G>A
cDNA.518G>A
g.20503G>A
AA changes R19H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 19
frameshift no
known variant Reference ID: rs2067019
databasehomozygous (A/A)heterozygousallele carriers
1000G2429561198
ExAC39412071324654
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Max, Transcription Factor, Max TF binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8270.995
2.0170.992
(flanking)-0.1170.909
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20506wt: 0.52 / mu: 0.59wt: CCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGATCT
mu: CCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGATCT		 gccg|GGGC
Acc marginally decreased20495wt: 0.9733 / mu: 0.9640 (marginal change - not scored)wt: CTTCCCCTCATCCTCTCTCAGGACCCCCGCCGGGGCTTTGG
mu: CTTCCCCTCATCCTCTCTCAGGACCCCCACCGGGGCTTTGG		 tcag|GACC
Donor gained205030.31mu: CCCCCACCGGGGCTT CCCA|ccgg
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      19EQHTATLSKDPRRGFGIAISGGRD
mutated  not conserved    19EQHTATLSKDPHRGFGIAISGGR
Ptroglodytes  all identical  ENSPTRG00000010274  38EQHTATLSKDPRRGFGIAISGGR
Mmulatta  no alignment  ENSMMUG00000028930  n/a
Fcatus  all identical  ENSFCAG00000007142  37EQHTATLCKDPRRGFGIAISGGR
Mmusculus  all identical  ENSMUSG00000034917  19EQHTATLYKDPRRGFGIAVSGGH
Ggallus  not conserved  ENSGALG00000000748  38EQHTVTLSKDPHRGFGFAVSGGR
Trubripes  all conserved  ENSTRUG00000018210  38EQHTITLSKDPKFGFGFAISGGK
Drerio  all conserved  ENSDARG00000002909  19EQHTVTLSKDSKVGFGFAVSGGL
Dmelanogaster  not conserved  FBgn0262614  31EYHTVAVTRVPGYGFGIAVSGGR
Celegans  not conserved  Y105E8A.26  53QLLSVSLHRAANLGFGIAISGGR
Xtropicalis  all identical  ENSXETG00000006407  19EQYTVTLIRDPRRGFGIAISGGR
protein features
start (aa)end (aa)featuredetails 
1193DOMAINPDZ 1.lost
1919CONFLICTR -> H (in Ref. 3; AAI08907).lost
112112MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
159159MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
164164MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
169169MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
195272DOMAINPDZ 2.might get lost (downstream of altered splice site)
203203MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
394460DOMAINPDZ 3.might get lost (downstream of altered splice site)
489563DOMAINSH3.might get lost (downstream of altered splice site)
492496STRANDmight get lost (downstream of altered splice site)
504507STRANDmight get lost (downstream of altered splice site)
515520STRANDmight get lost (downstream of altered splice site)
536541STRANDmight get lost (downstream of altered splice site)
547553STRANDmight get lost (downstream of altered splice site)
556569HELIXmight get lost (downstream of altered splice site)
579579MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
594775DOMAINGuanylate kinase-like.might get lost (downstream of altered splice site)
605605MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
610616HELIXmight get lost (downstream of altered splice site)
620628STRANDmight get lost (downstream of altered splice site)
635639STRANDmight get lost (downstream of altered splice site)
642652HELIXmight get lost (downstream of altered splice site)
654656TURNmight get lost (downstream of altered splice site)
657659STRANDmight get lost (downstream of altered splice site)
675683HELIXmight get lost (downstream of altered splice site)
687690STRANDmight get lost (downstream of altered splice site)
694702HELIXmight get lost (downstream of altered splice site)
708715STRANDmight get lost (downstream of altered splice site)
717727HELIXmight get lost (downstream of altered splice site)
735749HELIXmight get lost (downstream of altered splice site)
750752HELIXmight get lost (downstream of altered splice site)
754759STRANDmight get lost (downstream of altered splice site)
761763STRANDmight get lost (downstream of altered splice site)
765777HELIXmight get lost (downstream of altered splice site)
780785STRANDmight get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
920920MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2760 / 2760
position (AA) of stopcodon in wt / mu AA sequence 920 / 920
position of stopcodon in wt / mu cDNA 3222 / 3222
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 463 / 463
chromosome 19
strand 1
last intron/exon boundary 3120
theoretical NMD boundary in CDS 2607
length of CDS 2760
coding sequence (CDS) position 56
cDNA position
(for ins/del: last normal base / first normal base)		 518
gDNA position
(for ins/del: last normal base / first normal base)		 20503
chromosomal position
(for ins/del: last normal base / first normal base)		 3728609
original gDNA sequence snippet CATCCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered gDNA sequence snippet CATCCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGA
original cDNA sequence snippet CACACTGTCCAAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered cDNA sequence snippet CACACTGTCCAAGGACCCCCACCGGGGCTTTGGCATTGCGA
wildtype AA sequence MEELTIWEQH TATLSKDPRR GFGIAISGGR DRPGGSMVVS DVVPGGPAEG RLQTGDHIVM
VNGVSMENAT SAFAIQILKT CTKMANITVK RPRRIHLPAT KASPSSPGRQ DSDEDDGPQR
VEEVDQGRGY DGDSSSGSGR SWDERSRRPR PGRRGRAGSH GRRSPGGGSE ANGLALVSGF
KRLPRQDVQM KPVKSVLVKR RDSEEFGVKL GSQIFIKHIT DSGLAARHRG LQEGDLILQI
NGVSSQNLSL NDTRRLIEKS EGKLSLLVLR DRGQFLVNIP PAVSDSDSSP LEDISDLASE
LSQAPPSHIP PPPRHAQRSP EASQTDSPVE SPRLRRESSV DSRTISEPDE QRSELPRESS
YDIYRVPSSQ SMEDRGYSPD TRVVRFLKGK SIGLRLAGGN DVGIFVSGVQ AGSPADGQGI
QEGDQILQVN DVPFQNLTRE EAVQFLLGLP PGEEMELVTQ RKQDIFWKMV QSRVGDSFYI
RTHFELEPSP PSGLGFTRGD VFHVLDTLHP GPGQSHARGG HWLAVRMGRD LREQERGIIP
NQSRAEQLAS LEAAQRAVGV GPGSSAGSNA RAEFWRLRGL RRGAKKTTQR SREDLSALTR
QGRYPPYERV VLREASFKRP VVILGPVADI AMQKLTAEMP DQFEIAETVS RTDSPSKIIK
LDTVRVIAEK DKHALLDVTP SAIERLNYVQ YYPIVVFFIP ESRPALKALR QWLAPASRRS
TRRLYAQAQK LRKHSSHLFT ATIPLNGTSD TWYQELKAII REQQTRPIWT AEDQLDGSLE
DNLDLPHHGL ADSSADLSCD SRVNSDYETD GEGGAYTDGE GYTDGEGGPY TDVDDEPPAP
ALARSSEPVQ ADESQSPRDR GRISAHQGAQ VDSRHPQGQW RQDSMRTYER EALKKKFMRV
HDAESSDEDG YDWGPATDL*
mutated AA sequence MEELTIWEQH TATLSKDPHR GFGIAISGGR DRPGGSMVVS DVVPGGPAEG RLQTGDHIVM
VNGVSMENAT SAFAIQILKT CTKMANITVK RPRRIHLPAT KASPSSPGRQ DSDEDDGPQR
VEEVDQGRGY DGDSSSGSGR SWDERSRRPR PGRRGRAGSH GRRSPGGGSE ANGLALVSGF
KRLPRQDVQM KPVKSVLVKR RDSEEFGVKL GSQIFIKHIT DSGLAARHRG LQEGDLILQI
NGVSSQNLSL NDTRRLIEKS EGKLSLLVLR DRGQFLVNIP PAVSDSDSSP LEDISDLASE
LSQAPPSHIP PPPRHAQRSP EASQTDSPVE SPRLRRESSV DSRTISEPDE QRSELPRESS
YDIYRVPSSQ SMEDRGYSPD TRVVRFLKGK SIGLRLAGGN DVGIFVSGVQ AGSPADGQGI
QEGDQILQVN DVPFQNLTRE EAVQFLLGLP PGEEMELVTQ RKQDIFWKMV QSRVGDSFYI
RTHFELEPSP PSGLGFTRGD VFHVLDTLHP GPGQSHARGG HWLAVRMGRD LREQERGIIP
NQSRAEQLAS LEAAQRAVGV GPGSSAGSNA RAEFWRLRGL RRGAKKTTQR SREDLSALTR
QGRYPPYERV VLREASFKRP VVILGPVADI AMQKLTAEMP DQFEIAETVS RTDSPSKIIK
LDTVRVIAEK DKHALLDVTP SAIERLNYVQ YYPIVVFFIP ESRPALKALR QWLAPASRRS
TRRLYAQAQK LRKHSSHLFT ATIPLNGTSD TWYQELKAII REQQTRPIWT AEDQLDGSLE
DNLDLPHHGL ADSSADLSCD SRVNSDYETD GEGGAYTDGE GYTDGEGGPY TDVDDEPPAP
ALARSSEPVQ ADESQSPRDR GRISAHQGAQ VDSRHPQGQW RQDSMRTYER EALKKKFMRV
HDAESSDEDG YDWGPATDL*
speed 1.17 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: 0.0236192747375976 (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) chr19:3728609G>AN/A show variant in all transcripts   IGV
HGNC symbol TJP3
Ensembl transcript ID ENST00000587686
Genbank transcript ID N/A
UniProt peptide O95049
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.113G>A
g.20503G>A
AA changes R38H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs2067019
databasehomozygous (A/A)heterozygousallele carriers
1000G2429561198
ExAC39412071324654
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Max, Transcription Factor, Max TF binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8270.995
2.0170.992
(flanking)-0.1170.909
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20506wt: 0.52 / mu: 0.59wt: CCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGATCT
mu: CCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGATCT		 gccg|GGGC
Acc marginally decreased20495wt: 0.9733 / mu: 0.9640 (marginal change - not scored)wt: CTTCCCCTCATCCTCTCTCAGGACCCCCGCCGGGGCTTTGG
mu: CTTCCCCTCATCCTCTCTCAGGACCCCCACCGGGGCTTTGG		 tcag|GACC
Donor gained205030.31mu: CCCCCACCGGGGCTT CCCA|ccgg
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38EQHTATLSKDPRRGFGIAISGGRD
mutated  not conserved    38EQHTATLSKDPHRGFGIAISGGR
Ptroglodytes  all identical  ENSPTRG00000010274  38EQHTATLSKDPRRGFGIAISGGR
Mmulatta  no alignment  ENSMMUG00000028930  n/a
Fcatus  all identical  ENSFCAG00000007142  38EQHTATLCKDPRRGFGIAISGGR
Mmusculus  all identical  ENSMUSG00000034917  19EQHTATLYKDPRRGFGIAVSGGH
Ggallus  not conserved  ENSGALG00000000748  38EQHTVTLSKDPHRGFGFAVSGGR
Trubripes  all conserved  ENSTRUG00000018210  38EQHTITLSKDPKFGFGFAISGGK
Drerio  all conserved  ENSDARG00000002909  19EQHTVTLSKDSKVGFGFAVSGGL
Dmelanogaster  not conserved  FBgn0262614  31EYHTVAVTRVPGYGFGIAVSGGR
Celegans  not conserved  Y105E8A.26  50QLLSVSLHRAANLGFGIAISGGR
Xtropicalis  all identical  ENSXETG00000006407  19EQYTVTLIRDPRRGFGIAISGGR
protein features
start (aa)end (aa)featuredetails 
1193DOMAINPDZ 1.lost
112112MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
159159MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
164164MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
169169MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
195272DOMAINPDZ 2.might get lost (downstream of altered splice site)
203203MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
394460DOMAINPDZ 3.might get lost (downstream of altered splice site)
489563DOMAINSH3.might get lost (downstream of altered splice site)
492496STRANDmight get lost (downstream of altered splice site)
504507STRANDmight get lost (downstream of altered splice site)
515520STRANDmight get lost (downstream of altered splice site)
536541STRANDmight get lost (downstream of altered splice site)
547553STRANDmight get lost (downstream of altered splice site)
556569HELIXmight get lost (downstream of altered splice site)
579579MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
594775DOMAINGuanylate kinase-like.might get lost (downstream of altered splice site)
605605MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
610616HELIXmight get lost (downstream of altered splice site)
620628STRANDmight get lost (downstream of altered splice site)
635639STRANDmight get lost (downstream of altered splice site)
642652HELIXmight get lost (downstream of altered splice site)
654656TURNmight get lost (downstream of altered splice site)
657659STRANDmight get lost (downstream of altered splice site)
675683HELIXmight get lost (downstream of altered splice site)
687690STRANDmight get lost (downstream of altered splice site)
694702HELIXmight get lost (downstream of altered splice site)
708715STRANDmight get lost (downstream of altered splice site)
717727HELIXmight get lost (downstream of altered splice site)
735749HELIXmight get lost (downstream of altered splice site)
750752HELIXmight get lost (downstream of altered splice site)
754759STRANDmight get lost (downstream of altered splice site)
761763STRANDmight get lost (downstream of altered splice site)
765777HELIXmight get lost (downstream of altered splice site)
780785STRANDmight get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
920920MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2817 / 2817
position (AA) of stopcodon in wt / mu AA sequence 939 / 939
position of stopcodon in wt / mu cDNA 2817 / 2817
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 19
strand 1
last intron/exon boundary 2715
theoretical NMD boundary in CDS 2664
length of CDS 2817
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 113
gDNA position
(for ins/del: last normal base / first normal base)		 20503
chromosomal position
(for ins/del: last normal base / first normal base)		 3728609
original gDNA sequence snippet CATCCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered gDNA sequence snippet CATCCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGA
original cDNA sequence snippet CACACTGTCCAAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered cDNA sequence snippet CACACTGTCCAAGGACCCCCACCGGGGCTTTGGCATTGCGA
wildtype AA sequence MNLCGLMPIF PAPLDQVADM EELTIWEQHT ATLSKDPRRG FGIAISGGRD RPGGSMVVSD
VVPGGPAEGR LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK
ASPSSPGRQD SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG
RRSPGGGSEA NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD
SGLAARHRGL QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP
AVSDSDSSPL EDISDLASEL SQAPPSHIPP PPRHAQRSPE ASQTDSPVES PRLRRESSVD
SRTISEPDEQ RSELPRESSY DIYRVPSSQS MEDRGYSPDT RVVRFLKGKS IGLRLAGGND
VGIFVSGVQA GSPADGQGIQ EGDQILQVND VPFQNLTREE AVQFLLGLPP GEEMELVTQR
KQDIFWKMVQ SRVGDSFYIR THFELEPSPP SGLGFTRGDV FHVLDTLHPG PGQSHARGGH
WLAVRMGRDL REQERGIIPN QSRAEQLASL EAAQRAVGVG PGSSAGSNAR AEFWRLRGLR
RGAKKTTQRS REDLSALTRQ GRYPPYERVV LREASFKRPV VILGPVADIA MQKLTAEMPD
QFEIAETVSR TDSPSKIIKL DTVRVIAEKD KHALLDVTPS AIERLNYVQY YPIVVFFIPE
SRPALKALRQ WLAPASRRST RRLYAQAQKL RKHSSHLFTA TIPLNGTSDT WYQELKAIIR
EQQTRPIWTA EDQLDGSLED NLDLPHHGLA DSSADLSCDS RVNSDYETDG EGGAYTDGEG
YTDGEGGPYT DVDDEPPAPA LARSSEPVQA DESQSPRDRG RISAHQGAQV DSRHPQGQWR
QDSMRTYERE ALKKKFMRVH DAESSDEDGY DWGPATDL*
mutated AA sequence MNLCGLMPIF PAPLDQVADM EELTIWEQHT ATLSKDPHRG FGIAISGGRD RPGGSMVVSD
VVPGGPAEGR LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK
ASPSSPGRQD SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG
RRSPGGGSEA NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD
SGLAARHRGL QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP
AVSDSDSSPL EDISDLASEL SQAPPSHIPP PPRHAQRSPE ASQTDSPVES PRLRRESSVD
SRTISEPDEQ RSELPRESSY DIYRVPSSQS MEDRGYSPDT RVVRFLKGKS IGLRLAGGND
VGIFVSGVQA GSPADGQGIQ EGDQILQVND VPFQNLTREE AVQFLLGLPP GEEMELVTQR
KQDIFWKMVQ SRVGDSFYIR THFELEPSPP SGLGFTRGDV FHVLDTLHPG PGQSHARGGH
WLAVRMGRDL REQERGIIPN QSRAEQLASL EAAQRAVGVG PGSSAGSNAR AEFWRLRGLR
RGAKKTTQRS REDLSALTRQ GRYPPYERVV LREASFKRPV VILGPVADIA MQKLTAEMPD
QFEIAETVSR TDSPSKIIKL DTVRVIAEKD KHALLDVTPS AIERLNYVQY YPIVVFFIPE
SRPALKALRQ WLAPASRRST RRLYAQAQKL RKHSSHLFTA TIPLNGTSDT WYQELKAIIR
EQQTRPIWTA EDQLDGSLED NLDLPHHGLA DSSADLSCDS RVNSDYETDG EGGAYTDGEG
YTDGEGGPYT DVDDEPPAPA LARSSEPVQA DESQSPRDRG RISAHQGAQV DSRHPQGQWR
QDSMRTYERE ALKKKFMRVH DAESSDEDGY DWGPATDL*
speed 1.12 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 6.78175424591092e-19 (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) chr19:3728609G>AN/A show variant in all transcripts   IGV
HGNC symbol TJP3
Ensembl transcript ID ENST00000539908
Genbank transcript ID N/A
UniProt peptide O95049
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.67G>A
g.20503G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2067019
databasehomozygous (A/A)heterozygousallele carriers
1000G2429561198
ExAC39412071324654
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Max, Transcription Factor, Max TF binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8270.995
2.0170.992
(flanking)-0.1170.909
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -17) | splice site change before start ATG (at aa -16) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased20506wt: 0.52 / mu: 0.59wt: CCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGATCT
mu: CCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGATCT		 gccg|GGGC
Acc marginally decreased20495wt: 0.9733 / mu: 0.9640 (marginal change - not scored)wt: CTTCCCCTCATCCTCTCTCAGGACCCCCGCCGGGGCTTTGG
mu: CTTCCCCTCATCCTCTCTCAGGACCCCCACCGGGGCTTTGG		 tcag|GACC
Donor gained205030.31mu: CCCCCACCGGGGCTT CCCA|ccgg
distance from splice site 8
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1193DOMAINPDZ 1.might get lost (downstream of altered splice site)
1919CONFLICTR -> H (in Ref. 3; AAI08907).might get lost (downstream of altered splice site)
112112MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
159159MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
164164MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
169169MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
195272DOMAINPDZ 2.might get lost (downstream of altered splice site)
203203MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
394460DOMAINPDZ 3.might get lost (downstream of altered splice site)
489563DOMAINSH3.might get lost (downstream of altered splice site)
492496STRANDmight get lost (downstream of altered splice site)
504507STRANDmight get lost (downstream of altered splice site)
515520STRANDmight get lost (downstream of altered splice site)
536541STRANDmight get lost (downstream of altered splice site)
547553STRANDmight get lost (downstream of altered splice site)
556569HELIXmight get lost (downstream of altered splice site)
579579MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
594775DOMAINGuanylate kinase-like.might get lost (downstream of altered splice site)
605605MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
610616HELIXmight get lost (downstream of altered splice site)
620628STRANDmight get lost (downstream of altered splice site)
635639STRANDmight get lost (downstream of altered splice site)
642652HELIXmight get lost (downstream of altered splice site)
654656TURNmight get lost (downstream of altered splice site)
657659STRANDmight get lost (downstream of altered splice site)
675683HELIXmight get lost (downstream of altered splice site)
687690STRANDmight get lost (downstream of altered splice site)
694702HELIXmight get lost (downstream of altered splice site)
708715STRANDmight get lost (downstream of altered splice site)
717727HELIXmight get lost (downstream of altered splice site)
735749HELIXmight get lost (downstream of altered splice site)
750752HELIXmight get lost (downstream of altered splice site)
754759STRANDmight get lost (downstream of altered splice site)
761763STRANDmight get lost (downstream of altered splice site)
765777HELIXmight get lost (downstream of altered splice site)
780785STRANDmight get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
920920MOD_RESPhosphoserine.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 120 / 120
chromosome 19
strand 1
last intron/exon boundary 2669
theoretical NMD boundary in CDS 2499
length of CDS 2652
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 67
gDNA position
(for ins/del: last normal base / first normal base)		 20503
chromosomal position
(for ins/del: last normal base / first normal base)		 3728609
original gDNA sequence snippet CATCCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered gDNA sequence snippet CATCCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGA
original cDNA sequence snippet GCCTCCTAGACAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered cDNA sequence snippet GCCTCCTAGACAGGACCCCCACCGGGGCTTTGGCATTGCGA
wildtype AA sequence MVVSDVVPGG PAEGRLQTGD HIVMVNGVSM ENATSAFAIQ ILKTCTKMAN ITVKRPRRIH
LPATKASPSS PGRQDSDEDD GPQRVEEVDQ GRGYDGDSSS GSGRSWDERS RRPRPGRRGR
AGSHGRRSPG GGSEANGLAL VSGFKRLPRQ DVQMKPVKSV LVKRRDSEEF GVKLGSQIFI
KHITDSGLAA RHRGLQEGDL ILQINGVSSQ NLSLNDTRRL IEKSEGKLSL LVLRDRGQFL
VNIPPAVSDS DSSPLEDISD LASELSQAPP SHIPPPPRHA QRSPEASQTD SPVESPRLRR
ESSVDSRTIS EPDEQRSELP RESSYDIYRV PSSQSMEDRG YSPDTRVVRF LKGKSIGLRL
AGGNDVGIFV SGVQAGSPAD GQGIQEGDQI LQVNDVPFQN LTREEAVQFL LGLPPGEEME
LVTQRKQDIF WKMVQSRVGD SFYIRTHFEL EPSPPSGLGF TRGDVFHVLD TLHPGPGQSH
ARGGHWLAVR MGRDLREQER GIIPNQSRAE QLASLEAAQR AVGVGPGSSA GSNARAEFWR
LRGLRRGAKK TTQRSREDLS ALTRQGRYPP YERVVLREAS FKRPVVILGP VADIAMQKLT
AEMPDQFEIA ETVSRTDSPS KIIKLDTVRV IAEKDKHALL DVTPSAIERL NYVQYYPIVV
FFIPESRPAL KALRQWLAPA SRRSTRRLYA QAQKLRKHSS HLFTATIPLN GTSDTWYQEL
KAIIREQQTR PIWTAEDQLD GSLEDNLDLP HHGLADSSAD LSCDSRVNSD YETDGEGGAY
TDGEGYTDGE GGPYTDVDDE PPAPALARSS EPVQADESQS PRDRGRISAH QGAQVDSRHP
QGQWRQDSMR TYEREALKKK FMRVHDAESS DEDGYDWGPA TDL*
mutated AA sequence N/A
speed 0.92 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
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Problems

annotation problem

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