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: ENST00000371754
Querying Taster for transcript #2: ENST00000371752
Querying Taster for transcript #3: ENST00000371744
Querying Taster for transcript #4: ENST00000396105
MT speed 0 s - this script 3.151144 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNFX1polymorphism_automatic0.113455067160512simple_aaeQ924Hsingle base exchangers238221show file
ZNFX1polymorphism_automatic0.283369210433796simple_aaeQ924Hsingle base exchangers238221show file
ZNFX1polymorphism_automatic0.283369210433796simple_aaeQ924Hsingle base exchangers238221show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.886544932839488 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:47872377C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNFX1
Ensembl transcript ID ENST00000371754
Genbank transcript ID N/A
UniProt peptide Q9P2E3
alteration type single base exchange
alteration region CDS
DNA changes c.2772G>C
cDNA.3226G>C
g.22587G>C
AA changes Q924H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS
924
frameshift no
known variant Reference ID: rs238221
databasehomozygous (G/G)heterozygousallele carriers
1000G81412112025
ExAC28291-238154476
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1671
0.1280.998
(flanking)2.5041
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased22592wt: 0.3618 / mu: 0.4402 (marginal change - not scored)wt: GCTGGACCTCAGTTC
mu: CCTGGACCTCAGTTC
 TGGA|cctc
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      924AAEANEIEDVWQLDLSSRWQLYRL
mutated  not conserved    924AAEANEIEDVWHLDLSSRWQLYR
Ptroglodytes  all identical  ENSPTRG00000013603  924AAEASEIEDVWQLDLSSRWQLYR
Mmulatta  all identical  ENSMMUG00000023623  924AAEANEIEDVWQLDLSSRWQLYR
Fcatus  not conserved  ENSFCAG00000001449  925XXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000039501  917KAEANGIQDVWQLDLSSRWQLYR
Ggallus  all identical  ENSGALG00000004859  840ETEAYAIQDLWQLDMNSRWRLYR
Trubripes  not conserved  ENSTRUG00000014181  774EEEERAVDNIWILSLPDRWRLYR
Drerio  not conserved  ENSDARG00000074028  868EKEERRIRDVWSLSLKDRWKLYR
Dmelanogaster  no alignment  FBgn0039165  n/a
Celegans  not conserved  ZK1067.2  1385YIFSLARLKRWSLYI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
886967COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3813 / 3813
position (AA) of stopcodon in wt / mu AA sequence 1271 / 1271
position of stopcodon in wt / mu cDNA 4267 / 4267
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 455 / 455
chromosome 20
strand -1
last intron/exon boundary 3881
theoretical NMD boundary in CDS 3376
length of CDS 3813
coding sequence (CDS) position 2772
cDNA position
(for ins/del: last normal base / first normal base)
3226
gDNA position
(for ins/del: last normal base / first normal base)
22587
chromosomal position
(for ins/del: last normal base / first normal base)
47872377
original gDNA sequence snippet GAGATCGAGGATGTTTGGCAGCTGGACCTCAGTTCTCGCTG
altered gDNA sequence snippet GAGATCGAGGATGTTTGGCACCTGGACCTCAGTTCTCGCTG
original cDNA sequence snippet GAGATCGAGGATGTTTGGCAGCTGGACCTCAGTTCTCGCTG
altered cDNA sequence snippet GAGATCGAGGATGTTTGGCACCTGGACCTCAGTTCTCGCTG
wildtype AA sequence MEERRPHLDA RPRNSHTNHR GPVDGELPPR ARNQANNPPA NALRGGASHP GRHPRANNHP
AAYWQREERF RAMGRNPHQG RRNQEGHASD EARDQRHDQE NDTRWRNGNQ DCRNRRPPWS
NDNFQQWRTP HQKPTEQPQQ AKKLGYKFLE SLLQKDPSEV VITLATSLGL KELLSHSSMK
SNFLELICQV LRKACSSKMD RQSVLHVLGI LKNSKFLKVC LPAYVVGMIT EPIPDIRNQY
PEHISNIISL LQDLVSVFPA SSVQETSMLV SLLPTSLNAL RASGVDIEEE TEKNLEKVQT
IIEHLQEKRR EGTLRVDTYT LVQPEAEDHV ESYRTMPIYP TYNEVHLDER PFLRPNIISG
KYDSTAIYLD THFRLLREDF VRPLREGILE LLQSFEDQGL RKRKFDDIRI YFDTRIITPM
CSSSGIVYKV QFDTKPLKFV RWQNSKRLLY GSLVCMSKDN FETFLFATVS NREQEDLCRG
IVQLCFNEQS QQLLAEVQPS DSFLMVETTA YFEAYRHVLE GLQEVQEEDV PFQRNIVECN
SHVKEPRYLL MGGRYDFTPL IENPSATGEF LRNVEGLRHP RINVLDPGQW PSKEALKLDD
SQMEALQFAL TRELAIIQGP PGTGKTYVGL KIVQALLTNE SVWQISLQKF PILVVCYTNH
ALDQFLEGIY NCQKTSIVRV GGRSNSEILK QFTLRELRNK REFRRNLPMH LRRAYMSIMT
QMKESEQELH EGAKTLECTM RGVLREQYLQ KYISPQHWES LMNGPVQDSE WICFQHWKHS
MMLEWLGLGV GSFTQSVSPA GPENTAQAEG DEEEEGEEES SLIEIAEEAD LIQADRVIEE
EEVVRPQRRK KEESGADQEL AKMLLAMRLD HCGTGTAAGQ EQATGEWQTQ RNQKKKMKKR
VKDELRKLNT MTAAEANEIE DVWQLDLSSR WQLYRLWLQL YQADTRRKIL SYERQYRTSA
ERMAELRLQE DLHILKDAQV VGMTTTGAAK YRQILQKVEP RIVIVEEAAE VLEAHTIATL
SKACQHLILI GDHQQLRPSA NVYDLAKNFN LEVSLFERLV KVNIPFVRLN YQHRMCPEIA
RLLTPHIYQD LENHPSVLKY EKIKAKSNSC RALATGMRRK HKISGMILSF FKLTIRSARF
QLLLSGSWTT ASFPFSRSRF AVLICRDNKR MPAVKPVSTN TGSHGLQMPG ALMGETFQKG
STSRDAAACL LSSLVNKIPP RSLTWASDCC ISFSSASSCR TAYTSFSIFS ILSRNLRMTS
QWEKIKRIYK *
mutated AA sequence MEERRPHLDA RPRNSHTNHR GPVDGELPPR ARNQANNPPA NALRGGASHP GRHPRANNHP
AAYWQREERF RAMGRNPHQG RRNQEGHASD EARDQRHDQE NDTRWRNGNQ DCRNRRPPWS
NDNFQQWRTP HQKPTEQPQQ AKKLGYKFLE SLLQKDPSEV VITLATSLGL KELLSHSSMK
SNFLELICQV LRKACSSKMD RQSVLHVLGI LKNSKFLKVC LPAYVVGMIT EPIPDIRNQY
PEHISNIISL LQDLVSVFPA SSVQETSMLV SLLPTSLNAL RASGVDIEEE TEKNLEKVQT
IIEHLQEKRR EGTLRVDTYT LVQPEAEDHV ESYRTMPIYP TYNEVHLDER PFLRPNIISG
KYDSTAIYLD THFRLLREDF VRPLREGILE LLQSFEDQGL RKRKFDDIRI YFDTRIITPM
CSSSGIVYKV QFDTKPLKFV RWQNSKRLLY GSLVCMSKDN FETFLFATVS NREQEDLCRG
IVQLCFNEQS QQLLAEVQPS DSFLMVETTA YFEAYRHVLE GLQEVQEEDV PFQRNIVECN
SHVKEPRYLL MGGRYDFTPL IENPSATGEF LRNVEGLRHP RINVLDPGQW PSKEALKLDD
SQMEALQFAL TRELAIIQGP PGTGKTYVGL KIVQALLTNE SVWQISLQKF PILVVCYTNH
ALDQFLEGIY NCQKTSIVRV GGRSNSEILK QFTLRELRNK REFRRNLPMH LRRAYMSIMT
QMKESEQELH EGAKTLECTM RGVLREQYLQ KYISPQHWES LMNGPVQDSE WICFQHWKHS
MMLEWLGLGV GSFTQSVSPA GPENTAQAEG DEEEEGEEES SLIEIAEEAD LIQADRVIEE
EEVVRPQRRK KEESGADQEL AKMLLAMRLD HCGTGTAAGQ EQATGEWQTQ RNQKKKMKKR
VKDELRKLNT MTAAEANEIE DVWHLDLSSR WQLYRLWLQL YQADTRRKIL SYERQYRTSA
ERMAELRLQE DLHILKDAQV VGMTTTGAAK YRQILQKVEP RIVIVEEAAE VLEAHTIATL
SKACQHLILI GDHQQLRPSA NVYDLAKNFN LEVSLFERLV KVNIPFVRLN YQHRMCPEIA
RLLTPHIYQD LENHPSVLKY EKIKAKSNSC RALATGMRRK HKISGMILSF FKLTIRSARF
QLLLSGSWTT ASFPFSRSRF AVLICRDNKR MPAVKPVSTN TGSHGLQMPG ALMGETFQKG
STSRDAAACL LSSLVNKIPP RSLTWASDCC ISFSSASSCR TAYTSFSIFS ILSRNLRMTS
QWEKIKRIYK *
speed 0.76 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: 0.716630789566204 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:47872377C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNFX1
Ensembl transcript ID ENST00000371752
Genbank transcript ID N/A
UniProt peptide Q9P2E3
alteration type single base exchange
alteration region CDS
DNA changes c.2772G>C
cDNA.2857G>C
g.22587G>C
AA changes Q924H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS
924
frameshift no
known variant Reference ID: rs238221
databasehomozygous (G/G)heterozygousallele carriers
1000G81412112025
ExAC28291-238154476
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1671
0.1280.998
(flanking)2.5041
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased22592wt: 0.3618 / mu: 0.4402 (marginal change - not scored)wt: GCTGGACCTCAGTTC
mu: CCTGGACCTCAGTTC
 TGGA|cctc
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      924AAEANEIEDVWQLDLSSRWQLYRL
mutated  not conserved    924AAEANEIEDVWHLDLSSRWQLYR
Ptroglodytes  all identical  ENSPTRG00000013603  924AAEASEIEDVWQLDLSSRWQLYR
Mmulatta  all identical  ENSMMUG00000023623  924AAEANEIEDVWQLDLSSRWQLYR
Fcatus  no alignment  ENSFCAG00000001449  n/a
Mmusculus  all identical  ENSMUSG00000039501  917KAEANGIQDVWQLDLSSRWQLYR
Ggallus  all identical  ENSGALG00000004859  840ETEAYAIQDLWQLDMNSRWRLYR
Trubripes  not conserved  ENSTRUG00000014181  774EEEERAVDNIWILSLPDRWRLYR
Drerio  not conserved  ENSDARG00000074028  868EKEERRIRDVWSLSLKDRWKLYR
Dmelanogaster  no alignment  FBgn0039165  n/a
Celegans  not conserved  ZK1067.2  1385YIFSLARLKRWSLYI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
886967COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5757 / 5757
position (AA) of stopcodon in wt / mu AA sequence 1919 / 1919
position of stopcodon in wt / mu cDNA 5842 / 5842
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 86 / 86
chromosome 20
strand -1
last intron/exon boundary 3398
theoretical NMD boundary in CDS 3262
length of CDS 5757
coding sequence (CDS) position 2772
cDNA position
(for ins/del: last normal base / first normal base)
2857
gDNA position
(for ins/del: last normal base / first normal base)
22587
chromosomal position
(for ins/del: last normal base / first normal base)
47872377
original gDNA sequence snippet GAGATCGAGGATGTTTGGCAGCTGGACCTCAGTTCTCGCTG
altered gDNA sequence snippet GAGATCGAGGATGTTTGGCACCTGGACCTCAGTTCTCGCTG
original cDNA sequence snippet GAGATCGAGGATGTTTGGCAGCTGGACCTCAGTTCTCGCTG
altered cDNA sequence snippet GAGATCGAGGATGTTTGGCACCTGGACCTCAGTTCTCGCTG
wildtype AA sequence MEERRPHLDA RPRNSHTNHR GPVDGELPPR ARNQANNPPA NALRGGASHP GRHPRANNHP
AAYWQREERF RAMGRNPHQG RRNQEGHASD EARDQRHDQE NDTRWRNGNQ DCRNRRPPWS
NDNFQQWRTP HQKPTEQPQQ AKKLGYKFLE SLLQKDPSEV VITLATSLGL KELLSHSSMK
SNFLELICQV LRKACSSKMD RQSVLHVLGI LKNSKFLKVC LPAYVVGMIT EPIPDIRNQY
PEHISNIISL LQDLVSVFPA SSVQETSMLV SLLPTSLNAL RASGVDIEEE TEKNLEKVQT
IIEHLQEKRR EGTLRVDTYT LVQPEAEDHV ESYRTMPIYP TYNEVHLDER PFLRPNIISG
KYDSTAIYLD THFRLLREDF VRPLREGILE LLQSFEDQGL RKRKFDDIRI YFDTRIITPM
CSSSGIVYKV QFDTKPLKFV RWQNSKRLLY GSLVCMSKDN FETFLFATVS NREQEDLCRG
IVQLCFNEQS QQLLAEVQPS DSFLMVETTA YFEAYRHVLE GLQEVQEEDV PFQRNIVECN
SHVKEPRYLL MGGRYDFTPL IENPSATGEF LRNVEGLRHP RINVLDPGQW PSKEALKLDD
SQMEALQFAL TRELAIIQGP PGTGKTYVGL KIVQALLTNE SVWQISLQKF PILVVCYTNH
ALDQFLEGIY NCQKTSIVRV GGRSNSEILK QFTLRELRNK REFRRNLPMH LRRAYMSIMT
QMKESEQELH EGAKTLECTM RGVLREQYLQ KYISPQHWES LMNGPVQDSE WICFQHWKHS
MMLEWLGLGV GSFTQSVSPA GPENTAQAEG DEEEEGEEES SLIEIAEEAD LIQADRVIEE
EEVVRPQRRK KEESGADQEL AKMLLAMRLD HCGTGTAAGQ EQATGEWQTQ RNQKKKMKKR
VKDELRKLNT MTAAEANEIE DVWQLDLSSR WQLYRLWLQL YQADTRRKIL SYERQYRTSA
ERMAELRLQE DLHILKDAQV VGMTTTGAAK YRQILQKVEP RIVIVEEAAE VLEAHTIATL
SKACQHLILI GDHQQLRPSA NVYDLAKNFN LEVSLFERLV KVNIPFVRLN YQHRMCPEIA
RLLTPHIYQD LENHPSVLKY EKIKGVSSNL FFVEHNFPEQ EIQEGKSHQN QHEAHFVVEL
CKYFLCQEYL PSQITILTTY TGQLFCLRKL MPAKTFAGVR VHVVDKYQGE ENDIILLSLV
RSNQEGKVGF LQISNRICVA LSRAKKGMYC IGNMQMLAKV PLWSKIIHTL RENNQIGPML
RLCCQNHPET HTLVSKASDF QKVPEGGCSL PCEFRLGCGH VCTRACHPYD SSHKEFQCMK
PCQKVICQEG HRCPLVCFQE CQPCQVKVPK TIPRCGHEQM VPCSVPESDF CCQEPCSKSL
RCGHRCSHPC GEDCVQLCSE MVTIKLKCGH SQPVKCGHVE GLLYGGLLVK CTTKCGTILD
CGHPCPGSCH SCFEGRFHER CQQPCKRLLI CSHKCQEPCI GECPPCQRTC QNRCVHSQCK
KKCGELCSPC VEPCVWRCQH YQCTKLCSEP CNRPPCYVPC TKLLVCGHPC IGLCGEPCPK
KCRICHMDEV TQIFFGFEDE PDARFVQLED CSHIFEVQAL DRYMNEQKDD EVAIRLKVCP
ICQVPIRKNL RYGTSIKQRL EEIEIIKEKI QGSAGEIATS QERLKALLER KSLLHQLLPE
DFLMLKEKLA QKNLSVKDLG LVENYISFYD HLASLWDSLK KMHVLEEKRV RTRLEQVHEW
LAKKRLSFTS QELSDLRSEI QRLTYLVNLL TRYKIAEKKV KDSIAVEVYS VQNILEKTCK
FTQEDEQLVQ EKMEALKATL PCSGLGISEE ERVQIVSAIG YPRGHWFKCR NGHIYVIGDC
GGAMERGTCP DCKEVIGGTN HTLERSNQLA SEMDGAQHAA WSDTANNLMN FEEIQGMM*
mutated AA sequence MEERRPHLDA RPRNSHTNHR GPVDGELPPR ARNQANNPPA NALRGGASHP GRHPRANNHP
AAYWQREERF RAMGRNPHQG RRNQEGHASD EARDQRHDQE NDTRWRNGNQ DCRNRRPPWS
NDNFQQWRTP HQKPTEQPQQ AKKLGYKFLE SLLQKDPSEV VITLATSLGL KELLSHSSMK
SNFLELICQV LRKACSSKMD RQSVLHVLGI LKNSKFLKVC LPAYVVGMIT EPIPDIRNQY
PEHISNIISL LQDLVSVFPA SSVQETSMLV SLLPTSLNAL RASGVDIEEE TEKNLEKVQT
IIEHLQEKRR EGTLRVDTYT LVQPEAEDHV ESYRTMPIYP TYNEVHLDER PFLRPNIISG
KYDSTAIYLD THFRLLREDF VRPLREGILE LLQSFEDQGL RKRKFDDIRI YFDTRIITPM
CSSSGIVYKV QFDTKPLKFV RWQNSKRLLY GSLVCMSKDN FETFLFATVS NREQEDLCRG
IVQLCFNEQS QQLLAEVQPS DSFLMVETTA YFEAYRHVLE GLQEVQEEDV PFQRNIVECN
SHVKEPRYLL MGGRYDFTPL IENPSATGEF LRNVEGLRHP RINVLDPGQW PSKEALKLDD
SQMEALQFAL TRELAIIQGP PGTGKTYVGL KIVQALLTNE SVWQISLQKF PILVVCYTNH
ALDQFLEGIY NCQKTSIVRV GGRSNSEILK QFTLRELRNK REFRRNLPMH LRRAYMSIMT
QMKESEQELH EGAKTLECTM RGVLREQYLQ KYISPQHWES LMNGPVQDSE WICFQHWKHS
MMLEWLGLGV GSFTQSVSPA GPENTAQAEG DEEEEGEEES SLIEIAEEAD LIQADRVIEE
EEVVRPQRRK KEESGADQEL AKMLLAMRLD HCGTGTAAGQ EQATGEWQTQ RNQKKKMKKR
VKDELRKLNT MTAAEANEIE DVWHLDLSSR WQLYRLWLQL YQADTRRKIL SYERQYRTSA
ERMAELRLQE DLHILKDAQV VGMTTTGAAK YRQILQKVEP RIVIVEEAAE VLEAHTIATL
SKACQHLILI GDHQQLRPSA NVYDLAKNFN LEVSLFERLV KVNIPFVRLN YQHRMCPEIA
RLLTPHIYQD LENHPSVLKY EKIKGVSSNL FFVEHNFPEQ EIQEGKSHQN QHEAHFVVEL
CKYFLCQEYL PSQITILTTY TGQLFCLRKL MPAKTFAGVR VHVVDKYQGE ENDIILLSLV
RSNQEGKVGF LQISNRICVA LSRAKKGMYC IGNMQMLAKV PLWSKIIHTL RENNQIGPML
RLCCQNHPET HTLVSKASDF QKVPEGGCSL PCEFRLGCGH VCTRACHPYD SSHKEFQCMK
PCQKVICQEG HRCPLVCFQE CQPCQVKVPK TIPRCGHEQM VPCSVPESDF CCQEPCSKSL
RCGHRCSHPC GEDCVQLCSE MVTIKLKCGH SQPVKCGHVE GLLYGGLLVK CTTKCGTILD
CGHPCPGSCH SCFEGRFHER CQQPCKRLLI CSHKCQEPCI GECPPCQRTC QNRCVHSQCK
KKCGELCSPC VEPCVWRCQH YQCTKLCSEP CNRPPCYVPC TKLLVCGHPC IGLCGEPCPK
KCRICHMDEV TQIFFGFEDE PDARFVQLED CSHIFEVQAL DRYMNEQKDD EVAIRLKVCP
ICQVPIRKNL RYGTSIKQRL EEIEIIKEKI QGSAGEIATS QERLKALLER KSLLHQLLPE
DFLMLKEKLA QKNLSVKDLG LVENYISFYD HLASLWDSLK KMHVLEEKRV RTRLEQVHEW
LAKKRLSFTS QELSDLRSEI QRLTYLVNLL TRYKIAEKKV KDSIAVEVYS VQNILEKTCK
FTQEDEQLVQ EKMEALKATL PCSGLGISEE ERVQIVSAIG YPRGHWFKCR NGHIYVIGDC
GGAMERGTCP DCKEVIGGTN HTLERSNQLA SEMDGAQHAA WSDTANNLMN FEEIQGMM*
speed 0.45 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: 0.716630789566204 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:47872377C>GN/A show variant in all transcripts   IGV
HGNC symbol ZNFX1
Ensembl transcript ID ENST00000396105
Genbank transcript ID NM_021035
UniProt peptide Q9P2E3
alteration type single base exchange
alteration region CDS
DNA changes c.2772G>C
cDNA.3019G>C
g.22587G>C
AA changes Q924H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS
924
frameshift no
known variant Reference ID: rs238221
databasehomozygous (G/G)heterozygousallele carriers
1000G81412112025
ExAC28291-238154476
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1671
0.1280.998
(flanking)2.5041
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased22592wt: 0.3618 / mu: 0.4402 (marginal change - not scored)wt: GCTGGACCTCAGTTC
mu: CCTGGACCTCAGTTC
 TGGA|cctc
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      924AAEANEIEDVWQLDLSSRWQLYRL
mutated  not conserved    924AAEANEIEDVWHLDLSSRWQLYR
Ptroglodytes  all identical  ENSPTRG00000013603  924AAEASEIEDVWQLDLSSRWQLYR
Mmulatta  all identical  ENSMMUG00000023623  924AAEANEIEDVWQLDLSSRWQLYR
Fcatus  no alignment  ENSFCAG00000001449  n/a
Mmusculus  all identical  ENSMUSG00000039501  917KAEANGIQDVWQLDLSSRWQLYR
Ggallus  all identical  ENSGALG00000004859  840ETEAYAIQDLWQLDMNSRWRLYR
Trubripes  not conserved  ENSTRUG00000014181  774EEEERAVDNIWILSLPDRWRLYR
Drerio  not conserved  ENSDARG00000074028  868EKEERRIRDVWSLSLKDRWKLYR
Dmelanogaster  no alignment  FBgn0039165  n/a
Celegans  not conserved  ZK1067.2  1385YIFSLARLKRWSLYI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
886967COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5757 / 5757
position (AA) of stopcodon in wt / mu AA sequence 1919 / 1919
position of stopcodon in wt / mu cDNA 6004 / 6004
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 248 / 248
chromosome 20
strand -1
last intron/exon boundary 3560
theoretical NMD boundary in CDS 3262
length of CDS 5757
coding sequence (CDS) position 2772
cDNA position
(for ins/del: last normal base / first normal base)
3019
gDNA position
(for ins/del: last normal base / first normal base)
22587
chromosomal position
(for ins/del: last normal base / first normal base)
47872377
original gDNA sequence snippet GAGATCGAGGATGTTTGGCAGCTGGACCTCAGTTCTCGCTG
altered gDNA sequence snippet GAGATCGAGGATGTTTGGCACCTGGACCTCAGTTCTCGCTG
original cDNA sequence snippet GAGATCGAGGATGTTTGGCAGCTGGACCTCAGTTCTCGCTG
altered cDNA sequence snippet GAGATCGAGGATGTTTGGCACCTGGACCTCAGTTCTCGCTG
wildtype AA sequence MEERRPHLDA RPRNSHTNHR GPVDGELPPR ARNQANNPPA NALRGGASHP GRHPRANNHP
AAYWQREERF RAMGRNPHQG RRNQEGHASD EARDQRHDQE NDTRWRNGNQ DCRNRRPPWS
NDNFQQWRTP HQKPTEQPQQ AKKLGYKFLE SLLQKDPSEV VITLATSLGL KELLSHSSMK
SNFLELICQV LRKACSSKMD RQSVLHVLGI LKNSKFLKVC LPAYVVGMIT EPIPDIRNQY
PEHISNIISL LQDLVSVFPA SSVQETSMLV SLLPTSLNAL RASGVDIEEE TEKNLEKVQT
IIEHLQEKRR EGTLRVDTYT LVQPEAEDHV ESYRTMPIYP TYNEVHLDER PFLRPNIISG
KYDSTAIYLD THFRLLREDF VRPLREGILE LLQSFEDQGL RKRKFDDIRI YFDTRIITPM
CSSSGIVYKV QFDTKPLKFV RWQNSKRLLY GSLVCMSKDN FETFLFATVS NREQEDLCRG
IVQLCFNEQS QQLLAEVQPS DSFLMVETTA YFEAYRHVLE GLQEVQEEDV PFQRNIVECN
SHVKEPRYLL MGGRYDFTPL IENPSATGEF LRNVEGLRHP RINVLDPGQW PSKEALKLDD
SQMEALQFAL TRELAIIQGP PGTGKTYVGL KIVQALLTNE SVWQISLQKF PILVVCYTNH
ALDQFLEGIY NCQKTSIVRV GGRSNSEILK QFTLRELRNK REFRRNLPMH LRRAYMSIMT
QMKESEQELH EGAKTLECTM RGVLREQYLQ KYISPQHWES LMNGPVQDSE WICFQHWKHS
MMLEWLGLGV GSFTQSVSPA GPENTAQAEG DEEEEGEEES SLIEIAEEAD LIQADRVIEE
EEVVRPQRRK KEESGADQEL AKMLLAMRLD HCGTGTAAGQ EQATGEWQTQ RNQKKKMKKR
VKDELRKLNT MTAAEANEIE DVWQLDLSSR WQLYRLWLQL YQADTRRKIL SYERQYRTSA
ERMAELRLQE DLHILKDAQV VGMTTTGAAK YRQILQKVEP RIVIVEEAAE VLEAHTIATL
SKACQHLILI GDHQQLRPSA NVYDLAKNFN LEVSLFERLV KVNIPFVRLN YQHRMCPEIA
RLLTPHIYQD LENHPSVLKY EKIKGVSSNL FFVEHNFPEQ EIQEGKSHQN QHEAHFVVEL
CKYFLCQEYL PSQITILTTY TGQLFCLRKL MPAKTFAGVR VHVVDKYQGE ENDIILLSLV
RSNQEGKVGF LQISNRICVA LSRAKKGMYC IGNMQMLAKV PLWSKIIHTL RENNQIGPML
RLCCQNHPET HTLVSKASDF QKVPEGGCSL PCEFRLGCGH VCTRACHPYD SSHKEFQCMK
PCQKVICQEG HRCPLVCFQE CQPCQVKVPK TIPRCGHEQM VPCSVPESDF CCQEPCSKSL
RCGHRCSHPC GEDCVQLCSE MVTIKLKCGH SQPVKCGHVE GLLYGGLLVK CTTKCGTILD
CGHPCPGSCH SCFEGRFHER CQQPCKRLLI CSHKCQEPCI GECPPCQRTC QNRCVHSQCK
KKCGELCSPC VEPCVWRCQH YQCTKLCSEP CNRPPCYVPC TKLLVCGHPC IGLCGEPCPK
KCRICHMDEV TQIFFGFEDE PDARFVQLED CSHIFEVQAL DRYMNEQKDD EVAIRLKVCP
ICQVPIRKNL RYGTSIKQRL EEIEIIKEKI QGSAGEIATS QERLKALLER KSLLHQLLPE
DFLMLKEKLA QKNLSVKDLG LVENYISFYD HLASLWDSLK KMHVLEEKRV RTRLEQVHEW
LAKKRLSFTS QELSDLRSEI QRLTYLVNLL TRYKIAEKKV KDSIAVEVYS VQNILEKTCK
FTQEDEQLVQ EKMEALKATL PCSGLGISEE ERVQIVSAIG YPRGHWFKCR NGHIYVIGDC
GGAMERGTCP DCKEVIGGTN HTLERSNQLA SEMDGAQHAA WSDTANNLMN FEEIQGMM*
mutated AA sequence MEERRPHLDA RPRNSHTNHR GPVDGELPPR ARNQANNPPA NALRGGASHP GRHPRANNHP
AAYWQREERF RAMGRNPHQG RRNQEGHASD EARDQRHDQE NDTRWRNGNQ DCRNRRPPWS
NDNFQQWRTP HQKPTEQPQQ AKKLGYKFLE SLLQKDPSEV VITLATSLGL KELLSHSSMK
SNFLELICQV LRKACSSKMD RQSVLHVLGI LKNSKFLKVC LPAYVVGMIT EPIPDIRNQY
PEHISNIISL LQDLVSVFPA SSVQETSMLV SLLPTSLNAL RASGVDIEEE TEKNLEKVQT
IIEHLQEKRR EGTLRVDTYT LVQPEAEDHV ESYRTMPIYP TYNEVHLDER PFLRPNIISG
KYDSTAIYLD THFRLLREDF VRPLREGILE LLQSFEDQGL RKRKFDDIRI YFDTRIITPM
CSSSGIVYKV QFDTKPLKFV RWQNSKRLLY GSLVCMSKDN FETFLFATVS NREQEDLCRG
IVQLCFNEQS QQLLAEVQPS DSFLMVETTA YFEAYRHVLE GLQEVQEEDV PFQRNIVECN
SHVKEPRYLL MGGRYDFTPL IENPSATGEF LRNVEGLRHP RINVLDPGQW PSKEALKLDD
SQMEALQFAL TRELAIIQGP PGTGKTYVGL KIVQALLTNE SVWQISLQKF PILVVCYTNH
ALDQFLEGIY NCQKTSIVRV GGRSNSEILK QFTLRELRNK REFRRNLPMH LRRAYMSIMT
QMKESEQELH EGAKTLECTM RGVLREQYLQ KYISPQHWES LMNGPVQDSE WICFQHWKHS
MMLEWLGLGV GSFTQSVSPA GPENTAQAEG DEEEEGEEES SLIEIAEEAD LIQADRVIEE
EEVVRPQRRK KEESGADQEL AKMLLAMRLD HCGTGTAAGQ EQATGEWQTQ RNQKKKMKKR
VKDELRKLNT MTAAEANEIE DVWHLDLSSR WQLYRLWLQL YQADTRRKIL SYERQYRTSA
ERMAELRLQE DLHILKDAQV VGMTTTGAAK YRQILQKVEP RIVIVEEAAE VLEAHTIATL
SKACQHLILI GDHQQLRPSA NVYDLAKNFN LEVSLFERLV KVNIPFVRLN YQHRMCPEIA
RLLTPHIYQD LENHPSVLKY EKIKGVSSNL FFVEHNFPEQ EIQEGKSHQN QHEAHFVVEL
CKYFLCQEYL PSQITILTTY TGQLFCLRKL MPAKTFAGVR VHVVDKYQGE ENDIILLSLV
RSNQEGKVGF LQISNRICVA LSRAKKGMYC IGNMQMLAKV PLWSKIIHTL RENNQIGPML
RLCCQNHPET HTLVSKASDF QKVPEGGCSL PCEFRLGCGH VCTRACHPYD SSHKEFQCMK
PCQKVICQEG HRCPLVCFQE CQPCQVKVPK TIPRCGHEQM VPCSVPESDF CCQEPCSKSL
RCGHRCSHPC GEDCVQLCSE MVTIKLKCGH SQPVKCGHVE GLLYGGLLVK CTTKCGTILD
CGHPCPGSCH SCFEGRFHER CQQPCKRLLI CSHKCQEPCI GECPPCQRTC QNRCVHSQCK
KKCGELCSPC VEPCVWRCQH YQCTKLCSEP CNRPPCYVPC TKLLVCGHPC IGLCGEPCPK
KCRICHMDEV TQIFFGFEDE PDARFVQLED CSHIFEVQAL DRYMNEQKDD EVAIRLKVCP
ICQVPIRKNL RYGTSIKQRL EEIEIIKEKI QGSAGEIATS QERLKALLER KSLLHQLLPE
DFLMLKEKLA QKNLSVKDLG LVENYISFYD HLASLWDSLK KMHVLEEKRV RTRLEQVHEW
LAKKRLSFTS QELSDLRSEI QRLTYLVNLL TRYKIAEKKV KDSIAVEVYS VQNILEKTCK
FTQEDEQLVQ EKMEALKATL PCSGLGISEE ERVQIVSAIG YPRGHWFKCR NGHIYVIGDC
GGAMERGTCP DCKEVIGGTN HTLERSNQLA SEMDGAQHAA WSDTANNLMN FEEIQGMM*
speed 0.37 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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