AutismKB 2.0

View de novo Variants from PubMed ID: 28191889


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
AutG59269HIVEP3 1 41976742 stop_gained G A c.6601C>T p.Gln2201Ter
AutG23126POGZ 1 151380659 frameshift_variant G c.2131_2132delCCinsC p.Pro711LeufsTer27
AutG23126POGZ 1 151396736 stop_gained G T c.1053C>A p.Tyr351Ter
AutG55870ASH1L 1 155307491 frameshift_variant TTT c.8868_8869delAAinsAAA p.Arg2957LysfsTer19
AutG55870ASH1L 1 155448955 frameshift_variant G c.3704_3705delCTinsC p.Glu1236LysfsTer6
AutG1660DHX9 1 182822497 stop_gained C T c.421C>T p.Arg141Ter
AutG6326SCN2A 2 166164448 splice_donor_variant A c.476+1G>A
AutG6326SCN2A 2 166229813 frameshift_variant T c.3929_3930delCTinsT p.Ala1310ValfsTer2
AutG117583PARD3B 2 206057982 frameshift C c.2081_2082del
AutG285175UNC80 2 210834493 stop_gained,splice_region_variant C T c.7810C>T p.Arg2604Ter
AutG8452CUL3 2 225378301 frameshift_variant CTTCG c.387_395delCGAAGGAAGinsCGAAG p.Gly131AspfsTer28
AutG9320TRIP12 2 230632431 stop_gained A c.5920C>T p.Arg1974Ter
AutG9901SRGAP3 3 9106142 missense G A c.610C>T 0.9473 deleterious
AutG55209SETD5 3 9483895 missense_variant A c.749G>A p.Arg250Gln
AutG6529SLC6A1 3 11067143 stop_gained A c.723C>A p.Tyr241Ter
AutG5364PLXNB1 3 48455336 stop_gained A c.4318C>T p.Arg1440Ter
AutG5364PLXNB1 3 48459731 missense G A c.3091C>T 0.9173 deleterious
AutG27086FOXP1 3 71019886 frameshift_variant CTGTAAAGCTGCACTGTAAAGCTGCAT c.1757_1770delATGCAGCTTTACAGinsATGCA p.Ala591CysfsTer9
AutG79718TBL1XR1 3 176750796 missense_variant T c.1379G>A p.Gly460Asp
AutG287ANK2 4 114302686 missense A
AutG80155NAA15 4 140258086 frameshift_variant T c.225_230delTGACTTinsT p.Asp76GlufsTer20
AutG80155NAA15 4 140264105 frameshift_variant A c.529_531delACAinsA p.Gln178ThrfsTer5
AutG80155NAA15 4 140283033 stop_gained T A c.1695T>A p.Tyr565Ter
AutG80155NAA15 4 140299939 stop_gained A T c.2086A>T p.Lys696Ter
AutG7204TRIO 5 14461227 missense A c.5303G>A
AutG51720UIMC1 5 176334157 stop-gained A c.1870C>T
AutG5754PTK7 6 43106896 frameshift_variant A c.1386_1387delGAinsA p.Asn463MetfsTer20
AutG55023PHIP 6 79725374 stop_gained T c.1362C>A p.Tyr454Ter
AutG57492ARID1B 6 157256598 splice-acceptor G c.1888-2A>G
AutG57492ARID1B 6 157469898 stop-gained T c.2653C>T
AutG57492ARID1B 6 157502271 stop_gained C T c.3265C>T p.Arg1089Ter
AutG57492ARID1B 6 157527539 frameshift_variant A c.5226_5230delAGAAAinsA p.Glu1743AlafsTer9
AutG8295TRRAP 7 98550994 missense_variant G A c.5647G>A p.Gly1883Arg 0.6471 deleterious
AutG5649RELN 7 103155785 missense_variant C T c.7966G>A p.Asp2656Asn 0.8648 deleterious
AutG5649RELN 7 103163929 stop_gained G A c.7399C>T p.Gln2467Ter
AutG5649RELN 7 103207069 stop_gained G A c.4726C>T p.Arg1576Ter
AutG64478CSMD1 8 2954369 splice-donor A G c.7138+2T>C
AutG51322WAC 10 28872407 frameshift_variant AAA c.220_221delAAinsAAA p.Asn74LysfsTer2
AutG9126SMC3 10 112359553 frameshift_variant TTT c.2411_2412delTTinsTTT p.Arg805SerfsTer13
AutG4288MKI67 10 129901679 frameshift_variant TTG c.7343_7344delCAinsCAA p.Gly2449ArgfsTer4
AutG4076CAPRIN1 11 34107924 stop_gained C T c.1195C>T p.Gln399Ter
KMT5B 11 67926254 frameshift_variant T c.1487_1489delAGAinsA p.Asn497SerfsTer33
KMT5B 11 67939085 missense_variant T c.676G>A p.Asp226Asn
KMT5B 11 67939104 frameshift_variant G c.655_656delCTinsC p.Leu219HisfsTer30
AutG1108CHD4 12 6687244 stop_gained A c.5158G>T p.Glu1720Ter
AutG2904GRIN2B 12 13720165 frameshift T c.2384_2391del
AutG2904GRIN2B 12 13768467 missense C G c.1460G>C 0.9369 deleterious
AutG2904GRIN2B 12 13768551 missense_variant C T c.1376G>A p.Gly459Glu 0.9369 deleterious
AutG2904GRIN2B 12 14019043 frameshift_variant GGGGGGGGC c.92_99delGCCCCCCCinsGCCCCCCCC p.Ser34GlnfsTer25
AutG23389MED13L 12 116434859 stop_gained A c.2344G>T p.Glu782Ter
AutG57680CHD8 14 21868156 frameshift_variant A c.4799_4800delTAinsT p.Gly1602ValfsTer13
AutG57680CHD8 14 21871807 frameshift_variant TTTTTTTC c.3316_3322delGAAAAAAinsGAAAAAAA p.Ile1108AsnfsTer7
AutG57680CHD8 14 21897242 stop_gained A c.1096C>T p.Gln366Ter
AutG1106CHD2 15 93521585 missense_variant A c.2693G>A p.Arg898Gln
AutG1106CHD2 15 93552420 missense G A c.4459G>A 0.8625 deleterious
AutG7249TSC2 16 2138510 stop_gained T c.5467A>T p.Lys1823Ter
AutG10847SRCAP 16 30727385 splice_acceptor_variant G c.2494-2A>G
AutG1742DLG4 17 7121959 splice-acceptor G c.20-1G>C
AutG26115TANC2 17 61473156 missense G A c.2882G>A 0.6173 deleterious
AutG9229DLGAP1 18 3879854 missense C T c.215G>A 0.9336 deleterious
AutG83473KATNAL2 18 44589434 frameshift A c.429del
AutG83473KATNAL2 18 44595909 missense_variant C c.727T>C p.Phe243Leu
AutG6925TCF4 18 52896077 splice_donor_variant A c.1489+1G>T
AutG6925TCF4 18 52896231 stop-gained G A c.1726C>T
AutG6925TCF4 18 53017591 stop_gained,splice_region_variant C c.158C>G p.Ser53Ter
AutG6925TCF4 18 53017621 frameshift_variant CTTTG c.119_127delCAAAGAAAGinsCAAAG p.Lys42PhefsTer61
AutG23394ADNP 20 49508081 stop_gained A T c.3170T>A p.Leu1057Ter
AutG23394ADNP 20 49508178 frameshift_variant CTG c.3066_3072delCAGAGAGinsCAG p.Arg1023SerfsTer3
AutG23394ADNP 20 49508751 frameshift_variant TTTAA c.2491_2499delTTAAATAAAinsTTAAA p.Asn832LysfsTer81
AutG23394ADNP 20 49508756 frameshift_variant T c.2490_2494delATTAAinsA p.Leu831IlefsTer82
AutG23394ADNP 20 49509038 stop_gained G C c.2213C>G p.Ser738Ter
AutG23394ADNP 20 49510578 stop_gained G A c.673C>T p.Arg225Ter
AutG1859DYRK1A 21 38862503 stop-gained C T c.691C>T
AutG23112TNRC6B 22 40669452 frameshift_variant GGGGGGGA c.749_755delGGGGGGAinsGGGGGGGA p.Glu252GlyfsTer3

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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