| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000423059(MANE Select) | THSD7A | Benign | 0|200 | without_ | No | Single base exchange | N/A |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:11554610G>A (GRCh38) | |||||||||||||
| Gene symbol | THSD7A | |||||||||||||
| Gene constraints | LOEUF: 0.50, LOF (oe): 0.42, misssense (oe): 1.08, synonymous (oe): 1.26 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000423059.9 | |||||||||||||
| Genbank transcript ID | NM_015204 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.1454-11493C>T g.277589C>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 | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCAAGGATGCAAGCCTACTCCAATATTAAAAAGTTAGTCA | |||||||||||||
| Altered gDNA sequence snippet | TTCAAGGATGCAAGCCTACTTCAATATTAAAAAGTTAGTCA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MGLQARRWAS GSRGAAGPRR GVLQLLPLPL PLPLLLLLLL RPGAGRAAAQ GEAEAPTLYL WKTGPWGRCM GDECGPGGIQ TRAVWCAHVE GWTTLHTNCK QAERPNNQQN CFKVCDWHKE LYDWRLGPWN QCQPVISKSL EKPLECIKGE EGIQVREIAC IQKDKDIPAE DIICEYFEPK PLLEQACLIP CQQDCIVSEF SAWSECSKTC GSGLQHRTRH VVAPPQFGGS GCPNLTEFQV CQSSPCEAEE LRYSLHVGPW STCSMPHSRQ VRQARRRGKN KEREKDRSKG VKDPEARELI KKKRNRNRQN RQENKYWDIQ IGYQTREVMC INKTGKAADL SFCQQEKLPM TFQSCVITKE CQVSEWSEWS PCSKTCHDMV SPAGTRVRTR TIRQFPIGSE KECPEFEEKE PCLSQGDGVV PCATYGWRTT EWTECRVDPL LSQQDKRRGN QTALCGGGIQ TREVYCVQAN ENLLSQLSTH KNKEASKPMD LKLCTGPIPN TTQLCHIPCP TECEVSPWSA WGPCTYENCN DQQGKKGFKL RKRRITNEPT GGSGVTGNCP HLLEAIPCEE PACYDWKAVR LGNCEPDNGK ECGPGTQVQE VVCINSDGEE VDRQLCRDAI FPIPVACDAP CPKDCVLSTW STWSSCSHTC SGKTTEGKQI RARSILAYAG EEGGIRCPNS SALQEVRSCN EHPCTVYHWQ TGPWGQCIED TSVSSFNTTT TWNGEASCSV GMQTRKVICV RVNVGQVGPK KCPESLRPET VRPCLLPCKK DCIVTPYSDW TSCPSSCKEG DSSIRKQSRH RVIIQLPANG GRDCTDPLYE EKACEAPQAC QSYRWKTHKW RRCQLVPWSV QQDSPGAQEG CGPGRQARAI TCRKQDGGQA GIHECLQYAG PVPALTQACQ IPCQDDCQLT SWSKFSSCNG DCGAVRTRKR TLVGKSKKKE KCKNSHLYPL IETQYCPCDK YNAQPVGNWS DCILPEGKVE VLLGMKVQGD IKECGQGYRY QAMACYDQNG RLVETSRCNS HGYIEEACII PCPSDCKLSE WSNWSRCSKS CGSGVKVRSK WLREKPYNGG RPCPKLDHVN QAQVYEVVPC HSDCNQYLWV TEPWSICKVT FVNMRENCGE GVQTRKVRCM QNTADGPSEH VEDYLCDPEE MPLGSRVCKL PCPEDCVISE WGPWTQCVLP CNQSSFRQRS ADPIRQPADE GRSCPNAVEK EPCNLNKNCY HYDYNVTDWS TCQLSEKAVC GNGIKTRMLD CVRSDGKSVD LKYCEALGLE KNWQMNTSCM VECPVNCQLS DWSPWSECSQ TCGLTGKMIR RRTVTQPFQG DGRPCPSLMD QSKPCPVKPC YRWQYGQWSP CQVQEAQCGE GTRTRNISCV VSDGSADDFS KVVDEEFCAD IELIIDGNKN MVLEESCSQP CPGDCYLKDW SSWSLCQLTC VNGEDLGFGG IQVRSRPVII QELENQHLCP EQMLETKSCY DGQCYEYKWM ASAWKGSSRT VWCQRSDGIN VTGGCLVMSQ PDADRSCNPP CSQPHSYCSE TKTCHCEEGY TEVMSSNSTL EQCTLIPVVV LPTMEDKRGD VKTSRAVHPT QPSSNPAGRG RTWFLQPFGP DGRLKTWVYG VAAGAFVLLI FIVSMIYLAC KKPKKPQRRQ NNRLKPLTLA YDGDADM* | |||||||||||||
| 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 | 253 / 253 | |||||||||||||
| Last intron/exon boundary | 5141 | |||||||||||||
| Theoretical NMD boundary in CDS | 4838 | |||||||||||||
| Length of CDS | 4974 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 277589 | |||||||||||||
| Chromosomal position | 11554610 | |||||||||||||
| 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