AutismKB 2.0

View de novo Variants from PubMed ID: 23160955


Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.

Gene ID Gene Symbol Chr Position Effect Ref Alt Coding Change Protein Change Validation iFish Probability iFish Prediction
AutG111ADCY5 3 123049782 missenonsensee C Y p.Ala534Thr Sanger sequencing
AutG111ADCY5 3 123046605 missenonsensee G R p.Arg603Cys Sanger sequencing
AutG23394ADNP 20 49510027 frameshifting indel * -TT/* p.Lys408ValfsX31 Sanger sequencing
AutG23394ADNP 20 49509094 frameshifting indel * +T/* p.Tyr719Unk Sanger sequencing
AutG57492ARID1B 6 157510805 frameshifting indel * +C/* p.Gln1196ProfsX14 Sanger sequencing
AutG57492ARID1B 6 157527664 frameshifting indel * -TGTT/* p.Phe1798LeufsX52 Sanger sequencing
AutG57680CHD8 14 21899618 nonsense G S p.Ser62Unk Sanger sequencing
AutG57680CHD8 14 21878133 frameshifting indel * +T/* p.Tyr747Unk Sanger sequencing
AutG57680CHD8 14 21871373 splice-site T Y c.3519-2A>G Sanger sequencing
AutG57680CHD8 14 21871178 nonsense G R p.Gln1238Unk Sanger sequencing
AutG57680CHD8 14 21870169 nonsense G R p.Arg1337Unk Sanger sequencing
AutG57680CHD8 14 21861643 frameshifting indel * -CTTC/* p.Glu2103ArgfsX3 Sanger sequencing
AutG57680CHD8 14 21861376 frameshifting indel * -CT/* p.Leu2120ProfsX13 Sanger sequencing
AutG57680CHD8 14 21859175 frameshifting indel * +T/* p.Asn2371LysfsX2 Sanger sequencing
AutG57680CHD8 14 21854022 single amino acid deletion * -GGT/* p.His2498del Sanger sequencing
AutG1499CTNNB1 3 41275346 nonsense G R p.Trp504Unk Sanger sequencing
AutG1499CTNNB1 3 41275757 missenonsensee C Y p.Thr551Met Sanger sequencing
AutG1859DYRK1A 21 38845116 frameshifting indel * -AT/* p.Ile48LysfsX2 Sanger sequencing
AutG1859DYRK1A 21 38865466 splice-site G R c.1098+1G>A Sanger sequencing
AutG1859DYRK1A 21 38877833 frameshifting indel * -C/* p.Ala498ProfsX94 Sanger sequencing
AutG2904GRIN2B 12 14019043 frameshifting indel * +G/* p.Ser34GlnfsX25 Sanger sequencing
AutG2904GRIN2B 12 13768560 missenonsensee C Y p.Cys456Tyr Sanger sequencing 0.9369 deleterious
AutG2904GRIN2B 12 13764762 nonsense C Y p.Trp559Unk Sanger sequencing
AutG2904GRIN2B 12 13722953 splice-site T Y c.2172-2A>G Sanger sequencing
AutG10319LAMC3 9 133914290 missenonsensee A R p.Asp339Gly Sanger sequencing 0.5885 deleterious
AutG10319LAMC3 9 133952690 missenonsensee A R p.Tyr1249Cys Sanger sequencing
AutG22854NTNG1 1 107691283 missenonsensee A R p.Tyr23Cys Sanger sequencing
AutG22854NTNG1 1 107867061 missenonsensee C Y p.Thr135Ile Sanger sequencing
AutG5728PTEN 10 89692908 missenonsensee C Y p.Thr131Ile Sanger sequencing 0.9811 deleterious
AutG5728PTEN 10 89692920 frameshifting indel * +A/* p.Cys136MetfsX44 Sanger sequencing
AutG5728PTEN 10 89711882 missenonsensee C M p.Thr167Asn Sanger sequencing
AutG6305SBF1 22 50901032 missenonsensee G R p.Arg695Trp Sanger sequencing
AutG6305SBF1 22 50899030 missenonsensee T Y p.Thr1027Ala Sanger sequencing
AutG6323SCN1A 2 166848071 missenonsensee G R p.Pro1905Leu Sanger sequencing
AutG6323SCN1A 2 166848006 missenonsensee T Y p.Arg1927Gly Sanger sequencing
AutG29072SETD2 3 47166005 missenonsensee T W p.Ile41Phe Sanger sequencing
AutG29072SETD2 3 47098932 frameshifting indel * -T/* p.Asn2114IlefsX33 Sanger sequencing
AutG27352SGSM3 22 40802589 missenonsensee C Y p.Arg370Cys Sanger sequencing
AutG27352SGSM3 22 40804965 missenonsensee A R p.Asp644Gly Sanger sequencing
AutG79718TBL1XR1 3 176765107 missenonsensee A R p.Leu282Pro Sanger sequencing
AutG79718TBL1XR1 3 176752047 frameshifting indel * -A/* p.Ile397SerfsX19 Sanger sequencing
AutG10716TBR1 2 162273322 frameshifting indel * -C/* p.Ala136ProfsX80 Sanger sequencing
AutG10716TBR1 2 162273603 missenonsensee A R p.Lys228Glu Sanger sequencing 0.9691 deleterious
AutG10716TBR1 2 162275481 frameshifting indel * +C/* p.Ser351Unk Sanger sequencing
AutG9690UBE3C 7 157041114 missenonsensee C Y p.Ser845Phe Sanger sequencing
AutG9690UBE3C 7 157049644 missenonsensee T K p.Phe996Cys Sanger sequencing
AutG111ADCY5 3 121567092 missense C p.Ala534Thr
AutG23394ADP 20 50075687 Frameshift p.Tyr719X
AutG57492ARID1B 6 157469113 Frameshift p.Gln1196ProfsX1
AutG57680CHD8 14 22829778 onsense G p.Ser62X
AutG57680CHD8 14 22808293 Frameshift p.Tyr747X
AutG57680CHD8 14 22801533 splice site T c.3519-2A>G
AutG57680CHD8 14 22800329 onsense G p.Arg1337X
AutG57680CHD8 14 22791803 Frameshift p.Glu2103ArgfsX3
AutG57680CHD8 14 22789335 Frameshift p.Asn2371LysfsX2
AutG57680CHD8 14 22784182 non-frameshift indel p.His2498del
AutG1499CTB1 3 41300342 onsense G p.Trp504X
AutG1859DYRK1A 21 39923246 Frameshift p.Ile48LysfsX2
AutG1859DYRK1A 21 39955963 Frameshift p.Ala498ProfsX94
AutG2904GRI2B 12 14127776 Frameshift p.Ser34GlnfsX25
AutG2904GRI2B 12 13877293 missense C p.Cys456Tyr
AutG2904GRI2B 12 13873495 onsense C p.Trp559X
AutG10319LAMC3 9 134962869 missense A p.Tyr1249Cys
AutG5728PTE 10 89702928 missense C p.Thr131Ile
AutG5728PTE 10 89702940 Frameshift p.Cys136MetfsX44
AutG6305SBF1 22 missense G p.Arg695Trp
AutG6323SC1A 2 167139760 missense T p.Arg1927Gly
AutG29072SETD2 3 47191001 missense T p.Ile41Phe
AutG27352SGSM3 22 42475019 missense A p.Asp644Gly
AutG79718TBL1XR1 3 175269353 Frameshift p.Ile397SerfsX19
AutG10716TBR1 2 162565357 missense A p.Lys228Glu
AutG10716TBR1 2 162567235 Frameshift p.Ser351X
AutG9690UBE3C 7 157356883 missense T p.Phe996Cys
AutG111ADCY5 3 121563915 missense G p.Arg603Cys
AutG23394ADP 20 50076620 Frameshift p.Lys408ValfsX31
AutG57492ARID1B 6 157485972 Frameshift p.Phe1798LeufsX5
AutG57680CHD8 14 22801338 missense G p.Gln1238X
AutG57680CHD8 14 22791536 Frameshift p.Leu2120ProfsX13
AutG1499CTB1 3 41300753 missense C p.Thr551Met
AutG1859DYRK1A 21 39943596 splice site G c.1098+1G>A
AutG2904GRI2B 12 13831686 splice site T c.2172-2A>G
AutG10319LAMC3 9 134924469 missense A p.Asp339Gly
AutG22854TG1 1 107889760 missense A p.Tyr23Cys
AutG22854TG1 1 108065538 missense C p.Thr135Ile
AutG5728PTE 10 89721902 missense C p.Thr167Asn
AutG6305SBF1 22 missense T p.Thr1027Ala
AutG6323SC1A 2 167139825 missense G p.Pro1905Leu
AutG29072SETD2 3 47123928 Frameshift p.Asn2114IlefsX33
AutG27352SGSM3 22 42472643 missense C p.Arg370Cys
AutG79718TBL1XR1 3 175282413 missense A p.Leu282Pro
AutG10716TBR1 2 162565076 Frameshift p.Ala136ProfsX80
AutG9690UBE3C 7 157348353 missense C p.Ser845Phe

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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