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: ENST00000354340
Querying Taster for transcript #2: ENST00000337401
Querying Taster for transcript #3: ENST00000253426
Querying Taster for transcript #4: ENST00000536500
MT speed 2.5 s - this script 6.556167 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF112polymorphism_automatic7.94397880810038e-12simple_aaeaffectedY479Hsingle base exchangers2722722show file
ZNF112polymorphism_automatic7.94397880810038e-12simple_aaeaffectedY485Hsingle base exchangers2722722show file
ZNF112polymorphism_automatic7.94397880810038e-12simple_aaeaffectedY484Hsingle base exchangers2722722show file
ZNF112polymorphism_automatic7.94397880810038e-12simple_aaeaffectedY502Hsingle base exchangers2722722show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999992056 (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) chr19:44832875A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF112
Ensembl transcript ID ENST00000354340
Genbank transcript ID NM_013380
UniProt peptide Q9UJU3
alteration type single base exchange
alteration region CDS
DNA changes c.1435T>C
cDNA.1487T>C
g.72900T>C
AA changes Y479H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS
479
frameshift no
known variant Reference ID: rs2722722
databasehomozygous (G/G)heterozygousallele carriers
1000G112610362162
ExAC26114-194616653
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1110
0.0560
(flanking)-5.0640
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased72895wt: 0.28 / mu: 0.57wt: CCATAATTTATATCT
mu: CCATAATTTACATCT
 ATAA|ttta
distance from splice site 1215
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      479YVCSNSFSHNLYLQGHPKIHIGEK
mutated  all conserved    479YVCSNSFSHNLHLQGHPKIHIGE
Ptroglodytes  all identical  ENSPTRG00000011113  496YMCSNSFSHNLYLQGHPKIHIGE
Mmulatta  all identical  ENSMMUG00000012802  485YVCGNSFSHSLYLQGHPKIHIGE
Fcatus  all identical  ENSFCAG00000009947  483YLQGHQKIHIGE
Mmusculus  not conserved  ENSMUSG00000052675  486SQTLCLQGHQKLHIRE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
471493ZN_FINGC2H2-type 3; degenerate.lost
497519ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
525547ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
553575ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
581603ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
609631ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
637659ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
665687ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
693715ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
721743ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
749771ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
777799ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
805827ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
813813CONFLICTG -> A (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
833855ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
861883ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2724 / 2724
position (AA) of stopcodon in wt / mu AA sequence 908 / 908
position of stopcodon in wt / mu cDNA 2776 / 2776
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 53 / 53
chromosome 19
strand -1
last intron/exon boundary 273
theoretical NMD boundary in CDS 170
length of CDS 2724
coding sequence (CDS) position 1435
cDNA position
(for ins/del: last normal base / first normal base)
1487
gDNA position
(for ins/del: last normal base / first normal base)
72900
chromosomal position
(for ins/del: last normal base / first normal base)
44832875
original gDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered gDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
original cDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered cDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
wildtype AA sequence MVTFKDVAVV FTEEELGLLD SVQRKLYRDV MLENFRNLLL VAHQPFKPDL ISQLEREEKL
LMVETETPRD GCSGRKNQQK MESIQEVTVS YFSPKELSSR QTWQQSAGGL IRCQDFLKVF
QGKNSQLQEQ GNSLGQVWAG IPVQISEDKN YIFTHIGNGS NYIKSQGYPS WRAHHSWRKM
YLKESHNYQC RCQQISMKNH FCKCDSVSWL SHHNDKLEVH RKENYSCHDC GEDIMKVSLL
NQESIQTEEK PYPCTGYRKA FSNDSSSEVH QQFHLEGKPY TYSSCGKGCN YSSLLHIHQN
IEREDDIENS HLKSYQRVHT EEKPCKCGEY GENFNHCSPL NTYELIHTGE MSYRHNIYEK
AFSHSLDLNS IFRVHTRDEP HEYEENENVF NQSSCLQVHQ KIHTEEKLYT DIEYGKSFIC
SSNLDIQHRV HMEENSYNSE ECGNGFSLAS HFQDLQIVHT KEQPYKRYVC SNSFSHNLYL
QGHPKIHIGE KPRKEHGNGF NWSSKLKDHQ RVHTGQKPYK CNICGKGFNH RSVLNVHQRV
HTGEKPYKCE ECDKGFSRSS YLQAHQRVHT GEKPYKCEEC GKGFSRNSYL QGHQRVHTGE
KPYKCEECGK GFSRSSHLQG HQRVHTGEKP FKCEECGKGF SWSFNLQIHQ RVHTGEKPYK
CEECGKGFSK ASTLLAHQRV HTGEKPYQCD ECGKSFSQRS YLQSHQSVHS GERPYICEVC
GKGFSQRAYL QGHQRVHTRV KPYKCEMCGK GFSQSSRLEA HRRVHTGGKP YKCEVCTKGF
SESSRLQAHQ RVHVEGRPYK CEQCGKGFSG YSSLQAHHRV HTGEKPYKCE VCGKGFSQRS
NLQAHQRVHT GEKPYKCDAC GKGFRWSSGL LIHQRVHSSD KFYKSEDYGK DYPSSENLHR
NEDSVLF*
mutated AA sequence MVTFKDVAVV FTEEELGLLD SVQRKLYRDV MLENFRNLLL VAHQPFKPDL ISQLEREEKL
LMVETETPRD GCSGRKNQQK MESIQEVTVS YFSPKELSSR QTWQQSAGGL IRCQDFLKVF
QGKNSQLQEQ GNSLGQVWAG IPVQISEDKN YIFTHIGNGS NYIKSQGYPS WRAHHSWRKM
YLKESHNYQC RCQQISMKNH FCKCDSVSWL SHHNDKLEVH RKENYSCHDC GEDIMKVSLL
NQESIQTEEK PYPCTGYRKA FSNDSSSEVH QQFHLEGKPY TYSSCGKGCN YSSLLHIHQN
IEREDDIENS HLKSYQRVHT EEKPCKCGEY GENFNHCSPL NTYELIHTGE MSYRHNIYEK
AFSHSLDLNS IFRVHTRDEP HEYEENENVF NQSSCLQVHQ KIHTEEKLYT DIEYGKSFIC
SSNLDIQHRV HMEENSYNSE ECGNGFSLAS HFQDLQIVHT KEQPYKRYVC SNSFSHNLHL
QGHPKIHIGE KPRKEHGNGF NWSSKLKDHQ RVHTGQKPYK CNICGKGFNH RSVLNVHQRV
HTGEKPYKCE ECDKGFSRSS YLQAHQRVHT GEKPYKCEEC GKGFSRNSYL QGHQRVHTGE
KPYKCEECGK GFSRSSHLQG HQRVHTGEKP FKCEECGKGF SWSFNLQIHQ RVHTGEKPYK
CEECGKGFSK ASTLLAHQRV HTGEKPYQCD ECGKSFSQRS YLQSHQSVHS GERPYICEVC
GKGFSQRAYL QGHQRVHTRV KPYKCEMCGK GFSQSSRLEA HRRVHTGGKP YKCEVCTKGF
SESSRLQAHQ RVHVEGRPYK CEQCGKGFSG YSSLQAHHRV HTGEKPYKCE VCGKGFSQRS
NLQAHQRVHT GEKPYKCDAC GKGFRWSSGL LIHQRVHSSD KFYKSEDYGK DYPSSENLHR
NEDSVLF*
speed 0.54 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: 0.999999999992056 (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) chr19:44832875A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF112
Ensembl transcript ID ENST00000337401
Genbank transcript ID NM_001083335
UniProt peptide Q9UJU3
alteration type single base exchange
alteration region CDS
DNA changes c.1453T>C
cDNA.1542T>C
g.72900T>C
AA changes Y485H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS
485
frameshift no
known variant Reference ID: rs2722722
databasehomozygous (G/G)heterozygousallele carriers
1000G112610362162
ExAC26114-194616653
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1110
0.0560
(flanking)-5.0640
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased72895wt: 0.28 / mu: 0.57wt: CCATAATTTATATCT
mu: CCATAATTTACATCT
 ATAA|ttta
distance from splice site 1215
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      485YVCSNSFSHNLYLQGHPKIHIGEK
mutated  all conserved    485SHNLHLQGHPKIHIGE
Ptroglodytes  all identical  ENSPTRG00000011113  496SHNLYLQGHPKIHIGE
Mmulatta  all identical  ENSMMUG00000012802  485SHSLYLQGHPKIHIGE
Fcatus  all identical  ENSFCAG00000009947  483NSYLQGHQKIHIGE
Mmusculus  not conserved  ENSMUSG00000052675  486LCRTGFSQTLCLQGHQKLHIRE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
471493ZN_FINGC2H2-type 3; degenerate.lost
497519ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
525547ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
553575ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
581603ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
609631ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
637659ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
665687ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
693715ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
721743ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
749771ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
777799ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
805827ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
813813CONFLICTG -> A (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
833855ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
861883ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2742 / 2742
position (AA) of stopcodon in wt / mu AA sequence 914 / 914
position of stopcodon in wt / mu cDNA 2831 / 2831
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 90 / 90
chromosome 19
strand -1
last intron/exon boundary 328
theoretical NMD boundary in CDS 188
length of CDS 2742
coding sequence (CDS) position 1453
cDNA position
(for ins/del: last normal base / first normal base)
1542
gDNA position
(for ins/del: last normal base / first normal base)
72900
chromosomal position
(for ins/del: last normal base / first normal base)
44832875
original gDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered gDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
original cDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered cDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
wildtype AA sequence MTKFQEMVTF KDVAVVFTEE ELGLLDSVQR KLYRDVMLEN FRNLLLVAHQ PFKPDLISQL
EREEKLLMVE TETPRDGCSG RKNQQKMESI QEVTVSYFSP KELSSRQTWQ QSAGGLIRCQ
DFLKVFQGKN SQLQEQGNSL GQVWAGIPVQ ISEDKNYIFT HIGNGSNYIK SQGYPSWRAH
HSWRKMYLKE SHNYQCRCQQ ISMKNHFCKC DSVSWLSHHN DKLEVHRKEN YSCHDCGEDI
MKVSLLNQES IQTEEKPYPC TGYRKAFSND SSSEVHQQFH LEGKPYTYSS CGKGCNYSSL
LHIHQNIERE DDIENSHLKS YQRVHTEEKP CKCGEYGENF NHCSPLNTYE LIHTGEMSYR
HNIYEKAFSH SLDLNSIFRV HTRDEPHEYE ENENVFNQSS CLQVHQKIHT EEKLYTDIEY
GKSFICSSNL DIQHRVHMEE NSYNSEECGN GFSLASHFQD LQIVHTKEQP YKRYVCSNSF
SHNLYLQGHP KIHIGEKPRK EHGNGFNWSS KLKDHQRVHT GQKPYKCNIC GKGFNHRSVL
NVHQRVHTGE KPYKCEECDK GFSRSSYLQA HQRVHTGEKP YKCEECGKGF SRNSYLQGHQ
RVHTGEKPYK CEECGKGFSR SSHLQGHQRV HTGEKPFKCE ECGKGFSWSF NLQIHQRVHT
GEKPYKCEEC GKGFSKASTL LAHQRVHTGE KPYQCDECGK SFSQRSYLQS HQSVHSGERP
YICEVCGKGF SQRAYLQGHQ RVHTRVKPYK CEMCGKGFSQ SSRLEAHRRV HTGGKPYKCE
VCTKGFSESS RLQAHQRVHV EGRPYKCEQC GKGFSGYSSL QAHHRVHTGE KPYKCEVCGK
GFSQRSNLQA HQRVHTGEKP YKCDACGKGF RWSSGLLIHQ RVHSSDKFYK SEDYGKDYPS
SENLHRNEDS VLF*
mutated AA sequence MTKFQEMVTF KDVAVVFTEE ELGLLDSVQR KLYRDVMLEN FRNLLLVAHQ PFKPDLISQL
EREEKLLMVE TETPRDGCSG RKNQQKMESI QEVTVSYFSP KELSSRQTWQ QSAGGLIRCQ
DFLKVFQGKN SQLQEQGNSL GQVWAGIPVQ ISEDKNYIFT HIGNGSNYIK SQGYPSWRAH
HSWRKMYLKE SHNYQCRCQQ ISMKNHFCKC DSVSWLSHHN DKLEVHRKEN YSCHDCGEDI
MKVSLLNQES IQTEEKPYPC TGYRKAFSND SSSEVHQQFH LEGKPYTYSS CGKGCNYSSL
LHIHQNIERE DDIENSHLKS YQRVHTEEKP CKCGEYGENF NHCSPLNTYE LIHTGEMSYR
HNIYEKAFSH SLDLNSIFRV HTRDEPHEYE ENENVFNQSS CLQVHQKIHT EEKLYTDIEY
GKSFICSSNL DIQHRVHMEE NSYNSEECGN GFSLASHFQD LQIVHTKEQP YKRYVCSNSF
SHNLHLQGHP KIHIGEKPRK EHGNGFNWSS KLKDHQRVHT GQKPYKCNIC GKGFNHRSVL
NVHQRVHTGE KPYKCEECDK GFSRSSYLQA HQRVHTGEKP YKCEECGKGF SRNSYLQGHQ
RVHTGEKPYK CEECGKGFSR SSHLQGHQRV HTGEKPFKCE ECGKGFSWSF NLQIHQRVHT
GEKPYKCEEC GKGFSKASTL LAHQRVHTGE KPYQCDECGK SFSQRSYLQS HQSVHSGERP
YICEVCGKGF SQRAYLQGHQ RVHTRVKPYK CEMCGKGFSQ SSRLEAHRRV HTGGKPYKCE
VCTKGFSESS RLQAHQRVHV EGRPYKCEQC GKGFSGYSSL QAHHRVHTGE KPYKCEVCGK
GFSQRSNLQA HQRVHTGEKP YKCDACGKGF RWSSGLLIHQ RVHSSDKFYK SEDYGKDYPS
SENLHRNEDS VLF*
speed 0.80 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: 0.999999999992056 (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) chr19:44832875A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF112
Ensembl transcript ID ENST00000253426
Genbank transcript ID N/A
UniProt peptide Q9UJU3
alteration type single base exchange
alteration region CDS
DNA changes c.1450T>C
cDNA.1534T>C
g.72900T>C
AA changes Y484H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS
484
frameshift no
known variant Reference ID: rs2722722
databasehomozygous (G/G)heterozygousallele carriers
1000G112610362162
ExAC26114-194616653
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1110
0.0560
(flanking)-5.0640
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased72895wt: 0.28 / mu: 0.57wt: CCATAATTTATATCT
mu: CCATAATTTACATCT
 ATAA|ttta
distance from splice site 1215
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      484YVCSNSFSHNLYLQGHPKIHIGEK
mutated  all conserved    484HNLHLQGHPKIHIGE
Ptroglodytes  all identical  ENSPTRG00000011113  496SHNLYLQGHPKIHIGE
Mmulatta  all identical  ENSMMUG00000012802  485SHSLYLQGHPKIHIGE
Fcatus  all identical  ENSFCAG00000009947  483YLQGHQKIHIGE
Mmusculus  not conserved  ENSMUSG00000052675  486FSQTLCLQGHQKLHIRE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
471493ZN_FINGC2H2-type 3; degenerate.lost
497519ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
525547ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
553575ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
581603ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
609631ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
637659ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
665687ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
693715ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
721743ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
749771ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
777799ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
805827ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
813813CONFLICTG -> A (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
833855ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
861883ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2739 / 2739
position (AA) of stopcodon in wt / mu AA sequence 913 / 913
position of stopcodon in wt / mu cDNA 2823 / 2823
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 85 / 85
chromosome 19
strand -1
last intron/exon boundary 320
theoretical NMD boundary in CDS 185
length of CDS 2739
coding sequence (CDS) position 1450
cDNA position
(for ins/del: last normal base / first normal base)
1534
gDNA position
(for ins/del: last normal base / first normal base)
72900
chromosomal position
(for ins/del: last normal base / first normal base)
44832875
original gDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered gDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
original cDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered cDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
wildtype AA sequence MIKFQMVTFK DVAVVFTEEE LGLLDSVQRK LYRDVMLENF RNLLLVAHQP FKPDLISQLE
REEKLLMVET ETPRDGCSGR KNQQKMESIQ EVTVSYFSPK ELSSRQTWQQ SAGGLIRCQD
FLKVFQGKNS QLQEQGNSLG QVWAGIPVQI SEDKNYIFTH IGNGSNYIKS QGYPSWRAHH
SWRKMYLKES HNYQCRCQQI SMKNHFCKCD SVSWLSHHND KLEVHRKENY SCHDCGEDIM
KVSLLNQESI QTEEKPYPCT GYRKAFSNDS SSEVHQQFHL EGKPYTYSSC GKGCNYSSLL
HIHQNIERED DIENSHLKSY QRVHTEEKPC KCGEYGENFN HCSPLNTYEL IHTGEMSYRH
NIYEKAFSHS LDLNSIFRVH TRDEPHEYEE NENVFNQSSC LQVHQKIHTE EKLYTDIEYG
KSFICSSNLD IQHRVHMEEN SYNSEECGNG FSLASHFQDL QIVHTKEQPY KRYVCSNSFS
HNLYLQGHPK IHIGEKPRKE HGNGFNWSSK LKDHQRVHTG QKPYKCNICG KGFNHRSVLN
VHQRVHTGEK PYKCEECDKG FSRSSYLQAH QRVHTGEKPY KCEECGKGFS RNSYLQGHQR
VHTGEKPYKC EECGKGFSRS SHLQGHQRVH TGEKPFKCEE CGKGFSWSFN LQIHQRVHTG
EKPYKCEECG KGFSKASTLL AHQRVHTGEK PYQCDECGKS FSQRSYLQSH QSVHSGERPY
ICEVCGKGFS QRAYLQGHQR VHTRVKPYKC EMCGKGFSQS SRLEAHRRVH TGGKPYKCEV
CTKGFSESSR LQAHQRVHVE GRPYKCEQCG KGFSGYSSLQ AHHRVHTGEK PYKCEVCGKG
FSQRSNLQAH QRVHTGEKPY KCDACGKGFR WSSGLLIHQR VHSSDKFYKS EDYGKDYPSS
ENLHRNEDSV LF*
mutated AA sequence MIKFQMVTFK DVAVVFTEEE LGLLDSVQRK LYRDVMLENF RNLLLVAHQP FKPDLISQLE
REEKLLMVET ETPRDGCSGR KNQQKMESIQ EVTVSYFSPK ELSSRQTWQQ SAGGLIRCQD
FLKVFQGKNS QLQEQGNSLG QVWAGIPVQI SEDKNYIFTH IGNGSNYIKS QGYPSWRAHH
SWRKMYLKES HNYQCRCQQI SMKNHFCKCD SVSWLSHHND KLEVHRKENY SCHDCGEDIM
KVSLLNQESI QTEEKPYPCT GYRKAFSNDS SSEVHQQFHL EGKPYTYSSC GKGCNYSSLL
HIHQNIERED DIENSHLKSY QRVHTEEKPC KCGEYGENFN HCSPLNTYEL IHTGEMSYRH
NIYEKAFSHS LDLNSIFRVH TRDEPHEYEE NENVFNQSSC LQVHQKIHTE EKLYTDIEYG
KSFICSSNLD IQHRVHMEEN SYNSEECGNG FSLASHFQDL QIVHTKEQPY KRYVCSNSFS
HNLHLQGHPK IHIGEKPRKE HGNGFNWSSK LKDHQRVHTG QKPYKCNICG KGFNHRSVLN
VHQRVHTGEK PYKCEECDKG FSRSSYLQAH QRVHTGEKPY KCEECGKGFS RNSYLQGHQR
VHTGEKPYKC EECGKGFSRS SHLQGHQRVH TGEKPFKCEE CGKGFSWSFN LQIHQRVHTG
EKPYKCEECG KGFSKASTLL AHQRVHTGEK PYQCDECGKS FSQRSYLQSH QSVHSGERPY
ICEVCGKGFS QRAYLQGHQR VHTRVKPYKC EMCGKGFSQS SRLEAHRRVH TGGKPYKCEV
CTKGFSESSR LQAHQRVHVE GRPYKCEQCG KGFSGYSSLQ AHHRVHTGEK PYKCEVCGKG
FSQRSNLQAH QRVHTGEKPY KCDACGKGFR WSSGLLIHQR VHSSDKFYKS EDYGKDYPSS
ENLHRNEDSV LF*
speed 0.61 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: simple_aae, prob: 0.999999999992056 (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) chr19:44832875A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF112
Ensembl transcript ID ENST00000536500
Genbank transcript ID N/A
UniProt peptide Q9UJU3
alteration type single base exchange
alteration region CDS
DNA changes c.1504T>C
cDNA.1624T>C
g.72900T>C
AA changes Y502H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS
502
frameshift no
known variant Reference ID: rs2722722
databasehomozygous (G/G)heterozygousallele carriers
1000G112610362162
ExAC26114-194616653
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1110
0.0560
(flanking)-5.0640
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased72895wt: 0.28 / mu: 0.57wt: CCATAATTTATATCT
mu: CCATAATTTACATCT
 ATAA|ttta
distance from splice site 1215
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      502YVCSNSFSHNLYLQGHPKIHIGEK
mutated  all conserved    502YVCSNSFSHNLHLQGHPKIHIGE
Ptroglodytes  all identical  ENSPTRG00000011113  496YMCSNSFSHNLYLQGHPKIHIGE
Mmulatta  all identical  ENSMMUG00000012802  485SHSLYLQGHPKIHIGE
Fcatus  all identical  ENSFCAG00000009947  483NSYLQGHQKIHIGE
Mmusculus  not conserved  ENSMUSG00000052675  486LCRTGFSQTLCLQGHQKLHIRE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
497519ZN_FINGC2H2-type 4; degenerate.lost
525547ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
553575ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
581603ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
609631ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
637659ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
665687ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
693715ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
721743ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
749771ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
777799ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
805827ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
813813CONFLICTG -> A (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
833855ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
861883ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2793 / 2793
position (AA) of stopcodon in wt / mu AA sequence 931 / 931
position of stopcodon in wt / mu cDNA 2913 / 2913
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 121 / 121
chromosome 19
strand -1
last intron/exon boundary 410
theoretical NMD boundary in CDS 239
length of CDS 2793
coding sequence (CDS) position 1504
cDNA position
(for ins/del: last normal base / first normal base)
1624
gDNA position
(for ins/del: last normal base / first normal base)
72900
chromosomal position
(for ins/del: last normal base / first normal base)
44832875
original gDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered gDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
original cDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered cDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
wildtype AA sequence MGLGPRSLPF SRKRKRKMTK FQEMVTFKDV AVVFTEEELG LLDSVQRKLY RDVMLENFRN
LLLVAHQPFK PDLISQLERE EKLLMVETET PRDGCSGRKN QQKMESIQEV TVSYFSPKEL
SSRQTWQQSA GGLIRCQDFL KVFQGKNSQL QEQGNSLGQV WAGIPVQISE DKNYIFTHIG
NGSNYIKSQG YPSWRAHHSW RKMYLKESHN YQCRCQQISM KNHFCKCDSV SWLSHHNDKL
EVHRKENYSC HDCGEDIMKV SLLNQESIQT EEKPYPCTGY RKAFSNDSSS EVHQQFHLEG
KPYTYSSCGK GCNYSSLLHI HQNIEREDDI ENSHLKSYQR VHTEEKPCKC GEYGENFNHC
SPLNTYELIH TGEMSYRHNI YEKAFSHSLD LNSIFRVHTR DEPHEYEENE NVFNQSSCLQ
VHQKIHTEEK LYTDIEYGKS FICSSNLDIQ HRVHMEENSY NSEECGNGFS LASHFQDLQI
VHTKEQPYKR YVCSNSFSHN LYLQGHPKIH IGEKPRKEHG NGFNWSSKLK DHQRVHTGQK
PYKCNICGKG FNHRSVLNVH QRVHTGEKPY KCEECDKGFS RSSYLQAHQR VHTGEKPYKC
EECGKGFSRN SYLQGHQRVH TGEKPYKCEE CGKGFSRSSH LQGHQRVHTG EKPFKCEECG
KGFSWSFNLQ IHQRVHTGEK PYKCEECGKG FSKASTLLAH QRVHTGEKPY QCDECGKSFS
QRSYLQSHQS VHSGERPYIC EVCGKGFSQR AYLQGHQRVH TRVKPYKCEM CGKGFSQSSR
LEAHRRVHTG GKPYKCEVCT KGFSESSRLQ AHQRVHVEGR PYKCEQCGKG FSGYSSLQAH
HRVHTGEKPY KCEVCGKGFS QRSNLQAHQR VHTGEKPYKC DACGKGFRWS SGLLIHQRVH
SSDKFYKSED YGKDYPSSEN LHRNEDSVLF *
mutated AA sequence MGLGPRSLPF SRKRKRKMTK FQEMVTFKDV AVVFTEEELG LLDSVQRKLY RDVMLENFRN
LLLVAHQPFK PDLISQLERE EKLLMVETET PRDGCSGRKN QQKMESIQEV TVSYFSPKEL
SSRQTWQQSA GGLIRCQDFL KVFQGKNSQL QEQGNSLGQV WAGIPVQISE DKNYIFTHIG
NGSNYIKSQG YPSWRAHHSW RKMYLKESHN YQCRCQQISM KNHFCKCDSV SWLSHHNDKL
EVHRKENYSC HDCGEDIMKV SLLNQESIQT EEKPYPCTGY RKAFSNDSSS EVHQQFHLEG
KPYTYSSCGK GCNYSSLLHI HQNIEREDDI ENSHLKSYQR VHTEEKPCKC GEYGENFNHC
SPLNTYELIH TGEMSYRHNI YEKAFSHSLD LNSIFRVHTR DEPHEYEENE NVFNQSSCLQ
VHQKIHTEEK LYTDIEYGKS FICSSNLDIQ HRVHMEENSY NSEECGNGFS LASHFQDLQI
VHTKEQPYKR YVCSNSFSHN LHLQGHPKIH IGEKPRKEHG NGFNWSSKLK DHQRVHTGQK
PYKCNICGKG FNHRSVLNVH QRVHTGEKPY KCEECDKGFS RSSYLQAHQR VHTGEKPYKC
EECGKGFSRN SYLQGHQRVH TGEKPYKCEE CGKGFSRSSH LQGHQRVHTG EKPFKCEECG
KGFSWSFNLQ IHQRVHTGEK PYKCEECGKG FSKASTLLAH QRVHTGEKPY QCDECGKSFS
QRSYLQSHQS VHSGERPYIC EVCGKGFSQR AYLQGHQRVH TRVKPYKCEM CGKGFSQSSR
LEAHRRVHTG GKPYKCEVCT KGFSESSRLQ AHQRVHVEGR PYKCEQCGKG FSGYSSLQAH
HRVHTGEKPY KCEVCGKGFS QRSNLQAHQR VHTGEKPYKC DACGKGFRWS SGLLIHQRVH
SSDKFYKSED YGKDYPSSEN LHRNEDSVLF *
speed 0.55 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