| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000498707(MANE Select) | ADAMTS9 | Benign | 12|188 | without_ | Yes | Single base exchange | N/A |
| |||||
| ADAMTS9 | Benign | 12|188 | without_ | Yes | Single base exchange | N/A |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr3:64649783G>A (GRCh38) | |||||||||||||
| Gene symbol | ADAMTS9 | |||||||||||||
| Gene constraints | LOEUF: 0.47, LOF (oe): 0.40, misssense (oe): 0.92, synonymous (oe): 1.07 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000498707.5 | |||||||||||||
| Genbank transcript ID | NM_182920 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | ATS9_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.1464-5C>T g.38218C>T | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | MaxEntScan:
| |||||||||||||
| Distance from splice site | 5 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 3 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGTGTGTTTCTGTGTGTTTCCGTAGCACTGGTTATGGCGAG | |||||||||||||
| Altered gDNA sequence snippet | TGTGTGTTTCTGTGTGTTTCTGTAGCACTGGTTATGGCGAG | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MQFVSWATLL TLLVRDLAEM GSPDAAAAVR KDRLHPRQVK LLETLSEYEI VSPIRVNALG EPFPTNVHFK RTRRSINSAT DPWPAFASSS SSSTSSQAHY RLSAFGQQFL FNLTANAGFI APLFTVTLLG TPGVNQTKFY SEEEAELKHC FYKGYVNTNS EHTAVISLCS GMLGTFRSHD GDYFIEPLQS MDEQEDEEEQ NKPHIIYRRS APQREPSTGR HACDTSEHKN RHSKDKKKTR ARKWGERINL AGDVAALNSG LATEAFSAYG NKTDNTREKR THRRTKRFLS YPRFVEVLVV ADNRMVSYHG ENLQHYILTL MSIVASIYKD PSIGNLINIV IVNLIVIHNE QDGPSISFNA QTTLKNFCQW QHSKNSPGGI HHDTAVLLTR QDICRAHDKC DTLGLAELGT ICDPYRSCSI SEDSGLSTAF TIAHELGHVF NMPHDDNNKC KEEGVKSPQH VMAPTLNFYT NPWMWSKCSR KYITEFLDTG YGECLLNEPE SRPYPLPVQL PGILYNVNKQ CELIFGPGSQ VCPYMMQCRR LWCNNVNGVH KGCRTQHTPW ADGTECEPGK HCKYGFCVPK EMDVPVTDGS WGSWSPFGTC SRTCGGGIKT AIRECNRPEP KNGGKYCVGR RMKFKSCNTE PCLKQKRDFR DEQCAHFDGK HFNINGLLPN VRWVPKYSGI LMKDRCKLFC RVAGNTAYYQ LRDRVIDGTP CGQDTNDICV QGLCRQAGCD HVLNSKARRD KCGVCGGDNS SCKTVAGTFN TVHYGYNTVV RIPAGATNID VRQHSFSGET DDDNYLALSS SKGEFLLNGN FVVTMAKREI RIGNAVVEYS GSETAVERIN STDRIEQELL LQVLSVGKLY NPDVRYSFNI PIEDKPQQFY WNSHGPWQAC SKPCQGERKR KLVCTRESDQ LTVSDQRCDR LPQPGHITEP CGTDCDLRWH VASRSECSAQ CGLGYRTLDI YCAKYSRLDG KTEKVDDGFC SSHPKPSNRE KCSGECNTGG WRYSAWTECS KSCDGGTQRR RAICVNTRND VLDDSKCTHQ EKVTIQRCSE FPCPQWKSGD WSECLVTCGK GHKHRQVWCQ FGEDRLNDRM CDPETKPTSM QTCQQPECAS WQAGPWGQCS VTCGQGYQLR AVKCIIGTYM SVVDDNDCNA ATRPTDTQDC ELPSCHPPPA APETRRSTYS APRTQWRFGS WTPCSATCGK GTRMRYVSCR DENGSVADES ACATLPRPVA KEECSVTPCG QWKALDWSSC SVTCGQGRAT RQVMCVNYSD HVIDRSECDQ DYIPETDQDC SMSPCPQRTP DSGLAQHPFQ NEDYRPRSAS PSRTHVLGGN QWRTGPWGAC SSTCAGGSQR RVVVCQDENG YTANDCVERI KPDEQRACES GPCPQWAYGN WGECTKLCGG GIRTRLVVCQ RSNGERFPDL SCEILDKPPD REQCNTHACP HDAAWSTGPW SSCSVSCGRG HKQRNVYCMA KDGSHLESDY CKHLAKPHGH RKCRGGRCPK WKAGAWSQCS VSCGRGVQQR HVGCQIGTHK IARETECNPY TRPESERDCQ GPRCPLYTWR AEEWQECTKT CGEGSRYRKV VCVDDNKNEV HGARCDVSKR PVDRESCSLQ PCEYVWITGE WSECSVTCGK GYKQRLVSCS EIYTGKENYE YSYQTTINCP GTQPPSVHPC YLRDCPVSAT WRVGNWGSCS VSCGVGVMQR SVQCLTNEDQ PSHLCHTDLK PEERKTCRNV YNCELPQNCK EVKRLKGASE DGEYFLMIRG KLLKIFCAGM HSDHPKEYVT LVHGDSENFS EVYGHRLHNP TECPYNGSRR DDCQCRKDYT AAGFSSFQKI RIDLTSMQII TTDLQFARTS EGHPVPFATA GDCYSAAKCP QGRFSINLYG TGLSLTESAR WISQGNYAVS DIKKSPDGTR VVGKCGGYCG KCTPSSGTGL EVRVL* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| 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 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 344 / 344 | |||||||||||||
| Last intron/exon boundary | 6156 | |||||||||||||
| Theoretical NMD boundary in CDS | 5762 | |||||||||||||
| Length of CDS | 5808 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 38218 | |||||||||||||
| Chromosomal position | 64649783 | |||||||||||||
| Speed | 0.04 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 | Chr3:64649783G>A (GRCh38) | |||||||||||||
| Gene symbol | ADAMTS9 | |||||||||||||
| Gene constraints | LOEUF: 0.47, LOF (oe): 0.40, misssense (oe): 0.92, synonymous (oe): 1.07 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000295903.8 | |||||||||||||
| Genbank transcript ID | NM_001318781 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | ATS9_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.1380-5C>T g.38218C>T | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | MaxEntScan:
| |||||||||||||
| Distance from splice site | 5 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 3 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGTGTGTTTCTGTGTGTTTCCGTAGCACTGGTTATGGCGAG | |||||||||||||
| Altered gDNA sequence snippet | TGTGTGTTTCTGTGTGTTTCTGTAGCACTGGTTATGGCGAG | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MQFVSWATLL TLLVRDLAEM GSPDAAAAVR KDRLHPRQVK LLETLSEYEI VSPIRVNALG EPFPTNVHFK RTRRSINSAT DPWPAFASSS SSSTSSQAHY RLSAFGQQFL FNLTANAGFI APLFTVTLLG TPGVNQTKFY SEEEAELKHC FYKGYVNTNS EHTAVISLCS GMLGTFRSHD GDYFIEPLQS MDEQEDEEEQ NKPHIIYRRS APQREPSTGR HACDTSEHKN RHSKDKKKTR ARKWGERINL AGDVAALNSG LATEAFSAYG NKTDNTREKR THRRTKRFLS YPRFVEVLVV ADNRMVSYHG ENLQHYILTL MSIDGPSISF NAQTTLKNFC QWQHSKNSPG GIHHDTAVLL TRQDICRAHD KCDTLGLAEL GTICDPYRSC SISEDSGLST AFTIAHELGH VFNMPHDDNN KCKEEGVKSP QHVMAPTLNF YTNPWMWSKC SRKYITEFLD TGYGECLLNE PESRPYPLPV QLPGILYNVN KQCELIFGPG SQVCPYMMQC RRLWCNNVNG VHKGCRTQHT PWADGTECEP GKHCKYGFCV PKEMDVPVTD GSWGSWSPFG TCSRTCGGGI KTAIRECNRP EPKNGGKYCV GRRMKFKSCN TEPCLKQKRD FRDEQCAHFD GKHFNINGLL PNVRWVPKYS GILMKDRCKL FCRVAGNTAY YQLRDRVIDG TPCGQDTNDI CVQGLCRQAG CDHVLNSKAR RDKCGVCGGD NSSCKTVAGT FNTVHYGYNT VVRIPAGATN IDVRQHSFSG ETDDDNYLAL SSSKGEFLLN GNFVVTMAKR EIRIGNAVVE YSGSETAVER INSTDRIEQE LLLQVLSVGK LYNPDVRYSF NIPIEDKPQQ FYWNSHGPWQ ACSKPCQGER KRKLVCTRES DQLTVSDQRC DRLPQPGHIT EPCGTDCDLR WHVASRSECS AQCGLGYRTL DIYCAKYSRL DGKTEKVDDG FCSSHPKPSN REKCSGECNT GGWRYSAWTE CSKSCDGGTQ RRRAICVNTR NDVLDDSKCT HQEKVTIQRC SEFPCPQWKS GDWSECLVTC GKGHKHRQVW CQFGEDRLND RMCDPETKPT SMQTCQQPEC ASWQAGPWGQ CSVTCGQGYQ LRAVKCIIGT YMSVVDDNDC NAATRPTDTQ DCELPSCHPP PAAPETRRST YSAPRTQWRF GSWTPCSATC GKGTRMRYVS CRDENGSVAD ESACATLPRP VAKEECSVTP CGQWKALDWS SCSVTCGQGR ATRQVMCVNY SDHVIDRSEC DQDYIPETDQ DCSMSPCPQR TPDSGLAQHP FQNEDYRPRS ASPSRTHVLG GNQWRTGPWG ACSSTCAGGS QRRVVVCQDE NGYTANDCVE RIKPDEQRAC ESGPCPQWAY GNWGECTKLC GGGIRTRLVV CQRSNGERFP DLSCEILDKP PDREQCNTHA CPHDAAWSTG PWSSCSVSCG RGHKQRNVYC MAKDGSHLES DYCKHLAKPH GHRKCRGGRC PKWKAGAWSQ CSVSCGRGVQ QRHVGCQIGT HKIARETECN PYTRPESERD CQGPRCPLYT WRAEEWQECT KTCGEGSRYR KVVCVDDNKN EVHGARCDVS KRPVDRESCS LQPCEYVWIT GEWSECSVTC GKGYKQRLVS CSEIYTGKEN YEYSYQTTIN CPGTQPPSVH PCYLRDCPVS ATWRVGNWGS CSVSCGVGVM QRSVQCLTNE DQPSHLCHTD LKPEERKTCR NVYNCELPQN CKEVKRLKGA SEDGEYFLMI RGKLLKIFCA GMHSDHPKEY VTLVHGDSEN FSEVYGHRLH NPTECPYNGS RRDDCQCRKD YTAAGFSSFQ KIRIDLTSMQ IITTDLQFAR TSEGHPVPFA TAGDCYSAAK CPQGRFSINL YGTGLSLTES ARWISQGNYA VSDIKKSPDG TRVVGKCGGY CGKCTPSSGT GLEVRVL* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| 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 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 23 / 23 | |||||||||||||
| Last intron/exon boundary | 5751 | |||||||||||||
| Theoretical NMD boundary in CDS | 5678 | |||||||||||||
| Length of CDS | 5724 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 38218 | |||||||||||||
| Chromosomal position | 64649783 | |||||||||||||
| Speed | 0.03 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