| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000389857(MANE Select) | CCDC88C | Benign | 67|133 | without_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr14:91272685C>T (GRCh38) | |||||||||||||
| Gene symbol | CCDC88C | |||||||||||||
| Gene constraints | LOEUF: 0.76, LOF (oe): 0.65, misssense (oe): 1.02, synonymous (oe): 1.10 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000389857.11 | |||||||||||||
| Genbank transcript ID | NM_001080414 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6027G>A g.145160G>A | |||||||||||||
| 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 | 14 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGCGTCTCAAAGAGCAGTCCGGCCTCCCCGGAGCCCGGCGG | |||||||||||||
| Altered gDNA sequence snippet | AGCGTCTCAAAGAGCAGTCCAGCCTCCCCGGAGCCCGGCGG | |||||||||||||
| Original cDNA sequence snippet | AGCGTCTCAAAGAGCAGTCCGGCCTCCCCGGAGCCCGGCGG | |||||||||||||
| Altered cDNA sequence snippet | AGCGTCTCAAAGAGCAGTCCAGCCTCCCCGGAGCCCGGCGG | |||||||||||||
| Wildtype AA sequence | MDVTVSELLE LFLQSPLVTW VKTFGPFGSG SQDNLTMYMD LVDGIFLNQI MLQIDPRPTN QRINKHVNND VNLRIQNLTI LVRNIKTYYQ EVLQQLIVMN LPNVLMIGRD PLSGKSMEEI KKVLLLVLGC AVQCERKEEF IERIKQLDIE TQAGIVAHIQ EVTHNQENVF DLQWLELPDV APEELEALSR SMVLHLRRLI DQRDECTELI VDLTQERDYL QAQHPPSPIK SSSADSTPSP TSSLSSEDKQ HLAVELADTK ARLRRVRQEL EDKTEQLVDT RHEVDQLVLE LQKVKQENIQ LAADARSARA YRDELDSLRE KANRVERLEL ELTRCKEKLH DVDFYKARME ELREDNIILI ETKAMLEEQL TAARARGDKV HELEKENLQL KSKLHDLELD RDTDKKRIEE LLEENMVLEI AQKQSMNESA HLGWELEQLS KNADLSDASR KSFVFELNEC ASSRILKLEK ENQSLQSTIQ GLRDASLVLE ESGLKCGELE KENHQLSKKI EKLQTQLERE KQSNQDLETL SEELIREKEQ LQSDMETLKA DKARQIKDLE QEKDHLNRAM WSLRERSQVS SEARMKDVEK ENKALHQTVT EANGKLSQLE FEKRQLHRDL EQAKEKGERA EKLERELQRL QEENGRLARK VTSLETATEK VEALEHESQG LQLENRTLRK SLDTLQNVSL QLEGLERDNK QLDAENLELR RLVETMRFTS TKLAQMEREN QQLEREKEEL RKNVDLLKAL GKKSERLELS YQSVSAENLR LQQSLESSSH KTQTLESELG ELEAERQALR RDLEALRLAN AQLEGAEKDR KALEQEVAQL EKDKKLLEKE AKRLWQQVEL KDAVLDDSTA KLSAVEKESR ALDKELARCR DAAGKLKELE KDNRDLTKQV TVHARTLTTL REDLVLEKLK SQQLSSELDK LSQELEKVGL NRELLLQEDD SGSDTKYKIL EGRNESALKT TLAMKEEKIV LLEAQMEEKA SLNRQLESEL QMLKKECETL RQNQGEGQHL QNSFKHPAGK TAASHQGKEA WGPGHKEATM ELLRVKDRAI ELERNNAALQ AEKQLLKEQL QHLETQNVTF SSQILTLQKQ SAFLQEHNTT LQTQTAKLQV ENSTLSSQSA ALTAQYTLLQ NHHTAKETEN ESLQRQQEQL TAAYEALLQD HEHLGTLHER QSAEYEALIR QHSCLKTLHR NLELEHKELG ERHGDMLKRK AELEEREKVL TTEREALQQE QRTNALAMGE NQRLRGELDR VNFLHHQLKG EYEELHAHTK ELKTSLNNAQ LELNRWQARF DELKEQHQTM DISLTKLDNH CELLSRLKGN LEEENHHLLS QIQLLSQQNQ MLLEQNMENK EQYHEEQKQY IDKLNALRRH KEKLEEKIMD QYKFYDPPPK KKNHWIGAKA LVKLIKPKKE GSRERLKSTV DSPPWQLESS DPASPAASQP LRSQAENPDT PALGSNCAEE RDAHNGSVGK GPGDLKPKRG SPHRGSLDRT DASTDLAMRS WPSELGSRTC STSATTTAPS NSTPIARHPG RTKGYNSDDN LCEPSLEFEV PNHRQYVSRP SSLESSRNTS SNSSPLNLKG SSEQLHGRSE SFSSEDLIPS RDLATLPREA STPGRNALGR HEYPLPRNGP LPQEGAQKRG TAPPYVGVRP CSASPSSEMV TLEEFLEESN RSSPTHDTPS CRDDLLSDYF RKASDPPAIG GQPGPPAKKE GAKMPTNFVA PTVKMAAPTS EGRPLKPGQY VKPNFRLTEA EAPPSVAPRQ AQPPQSLSLG RPRQAPVPPA SHAPASRSAS LSRAFSLASA DLLRASGPEA CKQESPQKLG APEALGGRET GSHTLQSPAP PSSHSLARER TPLVGKAGSS CQGPGPRSRP LDTRRFSLAP PKEERLAPLH QSATAPAIAT AGAGAAAAGS GSNSQLLHFS PAAAPAARTK PKAPPRSGEV ATITPVRAGL SLSEGDGVPG QGCSEGLPAK SPGRSPDLAP HLGRALEDCS RGSVSKSSPA SPEPGGDPQT VWYEYGCV* | |||||||||||||
| Mutated AA sequence | MDVTVSELLE LFLQSPLVTW VKTFGPFGSG SQDNLTMYMD LVDGIFLNQI MLQIDPRPTN QRINKHVNND VNLRIQNLTI LVRNIKTYYQ EVLQQLIVMN LPNVLMIGRD PLSGKSMEEI KKVLLLVLGC AVQCERKEEF IERIKQLDIE TQAGIVAHIQ EVTHNQENVF DLQWLELPDV APEELEALSR SMVLHLRRLI DQRDECTELI VDLTQERDYL QAQHPPSPIK SSSADSTPSP TSSLSSEDKQ HLAVELADTK ARLRRVRQEL EDKTEQLVDT RHEVDQLVLE LQKVKQENIQ LAADARSARA YRDELDSLRE KANRVERLEL ELTRCKEKLH DVDFYKARME ELREDNIILI ETKAMLEEQL TAARARGDKV HELEKENLQL KSKLHDLELD RDTDKKRIEE LLEENMVLEI AQKQSMNESA HLGWELEQLS KNADLSDASR KSFVFELNEC ASSRILKLEK ENQSLQSTIQ GLRDASLVLE ESGLKCGELE KENHQLSKKI EKLQTQLERE KQSNQDLETL SEELIREKEQ LQSDMETLKA DKARQIKDLE QEKDHLNRAM WSLRERSQVS SEARMKDVEK ENKALHQTVT EANGKLSQLE FEKRQLHRDL EQAKEKGERA EKLERELQRL QEENGRLARK VTSLETATEK VEALEHESQG LQLENRTLRK SLDTLQNVSL QLEGLERDNK QLDAENLELR RLVETMRFTS TKLAQMEREN QQLEREKEEL RKNVDLLKAL GKKSERLELS YQSVSAENLR LQQSLESSSH KTQTLESELG ELEAERQALR RDLEALRLAN AQLEGAEKDR KALEQEVAQL EKDKKLLEKE AKRLWQQVEL KDAVLDDSTA KLSAVEKESR ALDKELARCR DAAGKLKELE KDNRDLTKQV TVHARTLTTL REDLVLEKLK SQQLSSELDK LSQELEKVGL NRELLLQEDD SGSDTKYKIL EGRNESALKT TLAMKEEKIV LLEAQMEEKA SLNRQLESEL QMLKKECETL RQNQGEGQHL QNSFKHPAGK TAASHQGKEA WGPGHKEATM ELLRVKDRAI ELERNNAALQ AEKQLLKEQL QHLETQNVTF SSQILTLQKQ SAFLQEHNTT LQTQTAKLQV ENSTLSSQSA ALTAQYTLLQ NHHTAKETEN ESLQRQQEQL TAAYEALLQD HEHLGTLHER QSAEYEALIR QHSCLKTLHR NLELEHKELG ERHGDMLKRK AELEEREKVL TTEREALQQE QRTNALAMGE NQRLRGELDR VNFLHHQLKG EYEELHAHTK ELKTSLNNAQ LELNRWQARF DELKEQHQTM DISLTKLDNH CELLSRLKGN LEEENHHLLS QIQLLSQQNQ MLLEQNMENK EQYHEEQKQY IDKLNALRRH KEKLEEKIMD QYKFYDPPPK KKNHWIGAKA LVKLIKPKKE GSRERLKSTV DSPPWQLESS DPASPAASQP LRSQAENPDT PALGSNCAEE RDAHNGSVGK GPGDLKPKRG SPHRGSLDRT DASTDLAMRS WPSELGSRTC STSATTTAPS NSTPIARHPG RTKGYNSDDN LCEPSLEFEV PNHRQYVSRP SSLESSRNTS SNSSPLNLKG SSEQLHGRSE SFSSEDLIPS RDLATLPREA STPGRNALGR HEYPLPRNGP LPQEGAQKRG TAPPYVGVRP CSASPSSEMV TLEEFLEESN RSSPTHDTPS CRDDLLSDYF RKASDPPAIG GQPGPPAKKE GAKMPTNFVA PTVKMAAPTS EGRPLKPGQY VKPNFRLTEA EAPPSVAPRQ AQPPQSLSLG RPRQAPVPPA SHAPASRSAS LSRAFSLASA DLLRASGPEA CKQESPQKLG APEALGGRET GSHTLQSPAP PSSHSLARER TPLVGKAGSS CQGPGPRSRP LDTRRFSLAP PKEERLAPLH QSATAPAIAT AGAGAAAAGS GSNSQLLHFS PAAAPAARTK PKAPPRSGEV ATITPVRAGL SLSEGDGVPG QGCSEGLPAK SPGRSPDLAP HLGRALEDCS RGSVSKSSPA SPEPGGDPQT VWYEYGCV* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6087 / 6087 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2029 / 2029 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6217 / 6217 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 131 / 131 | |||||||||||||
| Last intron/exon boundary | 5188 | |||||||||||||
| Theoretical NMD boundary in CDS | 5007 | |||||||||||||
| Length of CDS | 6087 | |||||||||||||
| Coding sequence (CDS) position | 6027 | |||||||||||||
| cDNA position | 6157 | |||||||||||||
| gDNA position | 145160 | |||||||||||||
| Chromosomal position | 91272685 | |||||||||||||
| 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