| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000394688(MANE Select) | BRD7 | Benign | 17|183 | without_ | No | Single base exchange | Normal |
| |||||
| BRD7 | Benign | 17|183 | without_ | No | Single base exchange | Normal |
| ||||||
| BRD7 | Benign | 34|166 | without_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr16:50334752G>A (GRCh38) | |||||||||||||
| Gene symbol | BRD7 | |||||||||||||
| Gene constraints | LOEUF: 0.34, LOF (oe): 0.21, misssense (oe): 0.86, synonymous (oe): 0.88 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000394688.8 | |||||||||||||
| Genbank transcript ID | NM_013263 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.846C>T g.34237C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGAGAGGACTCTGGAGATGCCGAAGCACACGCCTTCAAGAG | |||||||||||||
| Altered gDNA sequence snippet | AGAGAGGACTCTGGAGATGCTGAAGCACACGCCTTCAAGAG | |||||||||||||
| Original cDNA sequence snippet | AGAGAGGACTCTGGAGATGCCGAAGCACACGCCTTCAAGAG | |||||||||||||
| Altered cDNA sequence snippet | AGAGAGGACTCTGGAGATGCTGAAGCACACGCCTTCAAGAG | |||||||||||||
| Wildtype AA sequence | MGKKHKKHKS DKHLYEEYVE KPLKLVLKVG GNEVTELSTG SSGHDSSLFE DKNDHDKHKD RKRKKRKKGE KQIPGEEKGR KRRRVKEDKK KRDRDRVENE AEKDLQCHAP VRLDLPPEKP LTSSLAKQEE VEQTPLQEAL NQLMRQLQRK DPSAFFSFPV TDFIAPGYSM IIKHPMDFST MKEKIKNNDY QSIEELKDNF KLMCTNAMIY NKPETIYYKA AKKLLHSGMK ILSQERIQSL KQSIDFMADL QKTRKQKDGT DTSQSGEDGG CWQREREDSG DAEAHAFKSP SKENKKKDKD MLEDKFKSNN LEREQEQLDR IVKESGGKLT RRLVNSQCEF ERRKPDGTTT LGLLHPVDPI VGEPGYCPVR LGMTTGRLQS GVNTLQGFKE DKRNKVTPVL YLNYGPYSSY APHYDSTFAN ISKDDSDLIY STYGEDSDLP SDFSIHEFLA TCQDYPYVMA DSLLDVLTKG GHSRTLQEME MSLPEDEGHT RTLDTAKEME ITEVEPPGRL DSSTQDRLIA LKAVTNFGVP VEVFDSEEAE IFQKKLDETT RLLRELQEAQ NERLSTRPPP NMICLLGPSY REMHLAEQVT NNLKELAQQV TPGDIVSTYG VRKAMGISIP SPVMENNFVD LTEDTEEPKK TDVAECGPGG S* | |||||||||||||
| Mutated AA sequence | MGKKHKKHKS DKHLYEEYVE KPLKLVLKVG GNEVTELSTG SSGHDSSLFE DKNDHDKHKD RKRKKRKKGE KQIPGEEKGR KRRRVKEDKK KRDRDRVENE AEKDLQCHAP VRLDLPPEKP LTSSLAKQEE VEQTPLQEAL NQLMRQLQRK DPSAFFSFPV TDFIAPGYSM IIKHPMDFST MKEKIKNNDY QSIEELKDNF KLMCTNAMIY NKPETIYYKA AKKLLHSGMK ILSQERIQSL KQSIDFMADL QKTRKQKDGT DTSQSGEDGG CWQREREDSG DAEAHAFKSP SKENKKKDKD MLEDKFKSNN LEREQEQLDR IVKESGGKLT RRLVNSQCEF ERRKPDGTTT LGLLHPVDPI VGEPGYCPVR LGMTTGRLQS GVNTLQGFKE DKRNKVTPVL YLNYGPYSSY APHYDSTFAN ISKDDSDLIY STYGEDSDLP SDFSIHEFLA TCQDYPYVMA DSLLDVLTKG GHSRTLQEME MSLPEDEGHT RTLDTAKEME ITEVEPPGRL DSSTQDRLIA LKAVTNFGVP VEVFDSEEAE IFQKKLDETT RLLRELQEAQ NERLSTRPPP NMICLLGPSY REMHLAEQVT NNLKELAQQV TPGDIVSTYG VRKAMGISIP SPVMENNFVD LTEDTEEPKK TDVAECGPGG S* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1956 / 1956 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 652 / 652 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2170 / 2170 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 215 / 215 | |||||||||||||
| Last intron/exon boundary | 2114 | |||||||||||||
| Theoretical NMD boundary in CDS | 1849 | |||||||||||||
| Length of CDS | 1956 | |||||||||||||
| Coding sequence (CDS) position | 846 | |||||||||||||
| cDNA position | 1060 | |||||||||||||
| gDNA position | 34237 | |||||||||||||
| Chromosomal position | 50334752 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr16:50334752G>A (GRCh38) | |||||||||||||
| Gene symbol | BRD7 | |||||||||||||
| Gene constraints | LOEUF: 0.34, LOF (oe): 0.21, misssense (oe): 0.86, synonymous (oe): 0.88 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000394689.2 | |||||||||||||
| Genbank transcript ID | NM_001173984 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.846C>T g.34237C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGAGAGGACTCTGGAGATGCCGAAGCACACGCCTTCAAGAG | |||||||||||||
| Altered gDNA sequence snippet | AGAGAGGACTCTGGAGATGCTGAAGCACACGCCTTCAAGAG | |||||||||||||
| Original cDNA sequence snippet | AGAGAGGACTCTGGAGATGCCGAAGCACACGCCTTCAAGAG | |||||||||||||
| Altered cDNA sequence snippet | AGAGAGGACTCTGGAGATGCTGAAGCACACGCCTTCAAGAG | |||||||||||||
| Wildtype AA sequence | MGKKHKKHKS DKHLYEEYVE KPLKLVLKVG GNEVTELSTG SSGHDSSLFE DKNDHDKHKD RKRKKRKKGE KQIPGEEKGR KRRRVKEDKK KRDRDRVENE AEKDLQCHAP VRLDLPPEKP LTSSLAKQEE VEQTPLQEAL NQLMRQLQRK DPSAFFSFPV TDFIAPGYSM IIKHPMDFST MKEKIKNNDY QSIEELKDNF KLMCTNAMIY NKPETIYYKA AKKLLHSGMK ILSQERIQSL KQSIDFMADL QKTRKQKDGT DTSQSGEDGG CWQREREDSG DAEAHAFKSP SKENKKKDKD MLEDKFKSNN LEREQEQLDR IVKESGGKLT RRLVNSQCEF ERRKPDGTTT LGLLHPVDPI VGEPGYCPVR LGMTTGRLQS GVNTLQGFKE DKRNKVTPVL YLNYGPYSSY APHYDSTFAN ISKDDSDLIY STYGEDSDLP SDFSIHEFLA TCQDYPYVMA DSLLDVLTKG GHSRTLQEME MSLPEDEGHT RTLDTAKEME QITEVEPPGR LDSSTQDRLI ALKAVTNFGV PVEVFDSEEA EIFQKKLDET TRLLRELQEA QNERLSTRPP PNMICLLGPS YREMHLAEQV TNNLKELAQQ VTPGDIVSTY GVRKAMGISI PSPVMENNFV DLTEDTEEPK KTDVAECGPG GS* | |||||||||||||
| Mutated AA sequence | MGKKHKKHKS DKHLYEEYVE KPLKLVLKVG GNEVTELSTG SSGHDSSLFE DKNDHDKHKD RKRKKRKKGE KQIPGEEKGR KRRRVKEDKK KRDRDRVENE AEKDLQCHAP VRLDLPPEKP LTSSLAKQEE VEQTPLQEAL NQLMRQLQRK DPSAFFSFPV TDFIAPGYSM IIKHPMDFST MKEKIKNNDY QSIEELKDNF KLMCTNAMIY NKPETIYYKA AKKLLHSGMK ILSQERIQSL KQSIDFMADL QKTRKQKDGT DTSQSGEDGG CWQREREDSG DAEAHAFKSP SKENKKKDKD MLEDKFKSNN LEREQEQLDR IVKESGGKLT RRLVNSQCEF ERRKPDGTTT LGLLHPVDPI VGEPGYCPVR LGMTTGRLQS GVNTLQGFKE DKRNKVTPVL YLNYGPYSSY APHYDSTFAN ISKDDSDLIY STYGEDSDLP SDFSIHEFLA TCQDYPYVMA DSLLDVLTKG GHSRTLQEME MSLPEDEGHT RTLDTAKEME QITEVEPPGR LDSSTQDRLI ALKAVTNFGV PVEVFDSEEA EIFQKKLDET TRLLRELQEA QNERLSTRPP PNMICLLGPS YREMHLAEQV TNNLKELAQQ VTPGDIVSTY GVRKAMGISI PSPVMENNFV DLTEDTEEPK KTDVAECGPG GS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1959 / 1959 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 653 / 653 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1964 / 1964 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 6 / 6 | |||||||||||||
| Last intron/exon boundary | 1908 | |||||||||||||
| Theoretical NMD boundary in CDS | 1852 | |||||||||||||
| Length of CDS | 1959 | |||||||||||||
| Coding sequence (CDS) position | 846 | |||||||||||||
| cDNA position | 851 | |||||||||||||
| gDNA position | 34237 | |||||||||||||
| Chromosomal position | 50334752 | |||||||||||||
| Speed | 0.01 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr16:50334752G>A (GRCh38) | |||||||||||||
| Gene symbol | BRD7 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000710356.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.897C>T g.34237C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGAGAGGACTCTGGAGATGCCGAAGCACACGCCTTCAAGAG | |||||||||||||
| Altered gDNA sequence snippet | AGAGAGGACTCTGGAGATGCTGAAGCACACGCCTTCAAGAG | |||||||||||||
| Original cDNA sequence snippet | AGAGAGGACTCTGGAGATGCCGAAGCACACGCCTTCAAGAG | |||||||||||||
| Altered cDNA sequence snippet | AGAGAGGACTCTGGAGATGCTGAAGCACACGCCTTCAAGAG | |||||||||||||
| Wildtype AA sequence | MGKKHKKHKS DKHLYEEYVE KPLKLVLKVG GNEVTELSTG SSGHDSSLFE DKNDHDKHKD RKRKKRKKGE KQIPGEEKGR KRRRVKVQVV TLLWLCGRHC LFQEDKKKRD RDRVENEAEK DLQCHAPVRL DLPPEKPLTS SLAKQEEVEQ TPLQEALNQL MRQLQRKDPS AFFSFPVTDF IAPGYSMIIK HPMDFSTMKE KIKNNDYQSI EELKDNFKLM CTNAMIYNKP ETIYYKAAKK LLHSGMKILS QERIQSLKQS IDFMADLQKT RKQKDGTDTS QSGEDGGCWQ REREDSGDAE AHAFKSPSKE NKKKDKDMLE DKFKSNNLER EQEQLDRIVK ESGGKLTRRL VNSQCEFERR KPDGTTTLGL LHPVDPIVGE PGYCPVRLGM TTGRLQSGVN TLQGFKEDKR NKVTPVLYLN YGPYSSYAPH YDSTFANISK DDSDLIYSTY GEDSDLPSDF SIHEFLATCQ DYPYVMADSL LDVLTKGGHS RTLQEMEMSL PEDEGHTRTL DTAKEMEITE VEPPGRLDSS TQDRLIALKA VTNFGVPVEV FDSEEAEIFQ KKLDETTRLL RELQEAQNER LSTRPPPNMI CLLGPSYREM HLAEQVTNNL KELAQQVTPG DIVSTYGVRK AMGISIPSPV MENNFVDLTE DTEEPKKTDV AECGPGGS* | |||||||||||||
| Mutated AA sequence | MGKKHKKHKS DKHLYEEYVE KPLKLVLKVG GNEVTELSTG SSGHDSSLFE DKNDHDKHKD RKRKKRKKGE KQIPGEEKGR KRRRVKVQVV TLLWLCGRHC LFQEDKKKRD RDRVENEAEK DLQCHAPVRL DLPPEKPLTS SLAKQEEVEQ TPLQEALNQL MRQLQRKDPS AFFSFPVTDF IAPGYSMIIK HPMDFSTMKE KIKNNDYQSI EELKDNFKLM CTNAMIYNKP ETIYYKAAKK LLHSGMKILS QERIQSLKQS IDFMADLQKT RKQKDGTDTS QSGEDGGCWQ REREDSGDAE AHAFKSPSKE NKKKDKDMLE DKFKSNNLER EQEQLDRIVK ESGGKLTRRL VNSQCEFERR KPDGTTTLGL LHPVDPIVGE PGYCPVRLGM TTGRLQSGVN TLQGFKEDKR NKVTPVLYLN YGPYSSYAPH YDSTFANISK DDSDLIYSTY GEDSDLPSDF SIHEFLATCQ DYPYVMADSL LDVLTKGGHS RTLQEMEMSL PEDEGHTRTL DTAKEMEITE VEPPGRLDSS TQDRLIALKA VTNFGVPVEV FDSEEAEIFQ KKLDETTRLL RELQEAQNER LSTRPPPNMI CLLGPSYREM HLAEQVTNNL KELAQQVTPG DIVSTYGVRK AMGISIPSPV MENNFVDLTE DTEEPKKTDV AECGPGGS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2007 / 2007 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 669 / 669 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2221 / 2221 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 215 / 215 | |||||||||||||
| Last intron/exon boundary | 2165 | |||||||||||||
| Theoretical NMD boundary in CDS | 1900 | |||||||||||||
| Length of CDS | 2007 | |||||||||||||
| Coding sequence (CDS) position | 897 | |||||||||||||
| cDNA position | 1111 | |||||||||||||
| gDNA position | 34237 | |||||||||||||
| Chromosomal position | 50334752 | |||||||||||||
| Speed | 0.01 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project