AutismKB 2.0

View de novo Variants from PubMed ID: 23849776


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
AutG1188CLCNKB 1 16376358 missense C G c.408C>G p.Ile136Met Sanger sequencing 0.2456 neutral
AutG4343MOV10 1 113235478 missense G A c.1067G>A p.Arg356Gln Sanger sequencing 0.105 neutral
AutG25790CCDC19 1 159846398 missense C T c.1300G>A p.Ala434Thr Sanger sequencing
AutG89796NAV1 1 201687561 missense C A c.904C>A p.Arg302Ser Sanger sequencing 0.8286 deleterious
AutG56243KIAA1217 10 24802273 missense T C c.2087T>C p.Leu696Pro Sanger sequencing 0.5963 deleterious
AutG6441SFTPD 10 81702258 missense G A c.319C>T p.Pro107Ser Sanger sequencing 0.6319 deleterious
AutG9748SLK 10 105768025 missense C T c.2695C>T p.Arg899Cys Sanger sequencing 0.935 deleterious
AutG4076CAPRIN1 11 34107924 nonsense C T c.1195C>T p.Gln399Unk Sanger sequencing
AutG7542ZFPL1 11 64852255 missense G A c.85G>A p.Val29Ile Sanger sequencing 0.3114 neutral
AutG120114FAT3 11 92600180 missense G A c.11932G>A p.Val3978Met Sanger sequencing 0.5186 deleterious
AutG23329TBC1D30 12 65269243 missense C T c.1961C>T p.Ala654Val Sanger sequencing 0.002 neutral
HCAR1 12 123213933 synonymous G A c.954C>T p.Leu318Leu Sanger sequencing
AutG283638KIAA0284 14 105354151 missense G A c.3365G>A p.Arg1122His Sanger sequencing
AutG9318COPS2 15 49426143 missense G A c.899C>T p.Pro300Leu Sanger sequencing 0.998 deleterious
AutG51763INPP5K 17 1411432 missense C T c.415G>A p.Gly139Ser Sanger sequencing 0.0123 neutral
AutG79877DCAKD 17 43111636 synonymous G T c.235C>A p.Arg79Arg Sanger sequencing
AutG1788DNMT3A 2 25466800 missense G A c.1903C>T p.Arg635Trp Sanger sequencing 0.3113 neutral
AutG10865ARID5A 2 97215971 missense G T c.359G>T p.Gly120Val Sanger sequencing 0.79 deleterious
AutG151188ARL6IP6 2 153575211 missense C G c.73C>G p.Arg25Gly Sanger sequencing 0.0134 neutral
AutG27131SNX5 20 17923824 missense T C c.1094A>G p.Lys365Arg Sanger sequencing 0.5007 deleterious
AutG57553MICAL3 22 18387403 missense T C c.467A>G p.His156Arg Sanger sequencing 0.9836 deleterious
AutG4134MAP4 3 47957453 missense T C c.1864A>G p.Met622Val Sanger sequencing 0.0103 neutral
AutG1294COL7A1 3 48621941 missense G A c.4096C>T p.Arg1366Trp Sanger sequencing 0.329 neutral
AutG3615IMPDH2 3 49064457 missense C G c.555G>C p.Leu185Glu Sanger sequencing 0.1613 neutral
AutG9515STXBP5L 3 120628487 missense G A c.62G>A p.Gly21Asp Sanger sequencing 0.0015 neutral
AutG57491AHRR 5 422895 missense C G c.505C>G p.Gln169Glu Sanger sequencing 0.3953 deleterious
AutG3702ITK 5 156679654 missense G A c.1829G>A p.Arg610His Sanger sequencing 0.4986 deleterious
AutG6586SLIT3 5 168175351 synonymous C A c.2226G>T p.Gly742Gly Sanger sequencing
AutG23345SYNE1 6 152771947 missense G A c.3229C>T p.Pro1077Ser Sanger sequencing 0.3053 neutral
AutG7432VIP 6 153075412 nonsense T A c.219T>A p.Tyr73Unk Sanger sequencing
AutG64101LRRC4 7 127670456 missense G C c.238C>G p.Leu80Val Sanger sequencing 0.9764 deleterious
AutG136332LRGUK 7 133842813 synonymous A G c.696A>G p.Gly232Gly Sanger sequencing
AutG83595SOX7 8 10583692 synonymous C T c.723G>A p.Pro241Pro Sanger sequencing
AutG25879DCAF13 8 104439424 missense T G c.1024T>G p.Cys342Gly Sanger sequencing 0.005 neutral
AutG10319LAMC3 9 133942350 missense G A c.2351G>A p.Arg784Gln Sanger sequencing 0.672 deleterious
AutG25878MXRA5 X 3248358 missense T C c.410A>G p.Asn137Ser Sanger sequencing 0.8912 deleterious
AutG3730KAL1 X 8522080 nonsense G A c.1267C>T p.Arg423Unk Sanger sequencing
AutG55841WWC3 X 10104728 missense G A c.2819G>A p.Arg940Gln Sanger sequencing 0.9939 deleterious
AutG190NR0B1 X 30327222 missense C A c.259G>T p.Ala87Ser Sanger sequencing 0.2428 neutral
AutG1188CLCNKB 1 16376358 missense c.C408G 0.2456 neutral
AutG4343MOV10 1 113235478 missense c.G1067A 0.105 neutral
AutG25790CCDC19 1 159846398 missense c.G1300A
AutG89796NAV1 1 201687561 missense c.C904A 0.8286 deleterious
AutG56243KIAA1217 10 24802273 missense c.T2087C 0.5963 deleterious
AutG6441SFTPD 10 81702258 missense c.C319T 0.6319 deleterious
AutG9748SLK 10 105768025 missense c.C2695T 0.935 deleterious
AutG4076CAPRIN1 11 34107924 nonsense c.C1195T
AutG7542ZFPL1 11 64852255 missense c.G85A 0.3114 neutral
AutG120114FAT3 11 92600180 missense c.G11932A 0.5186 deleterious
AutG23329TBC1D30 12 65269243 missense c.C1961T 0.002 neutral
HCAR1 12 123213933 synonymous c.C954T
AutG283638KIAA0284 14 105354151 missense c.G3365A
AutG9318COPS2 15 49426143 missense c.C899T 0.998 deleterious
AutG51763INPP5K 17 1411432 missense c.G415A 0.0123 neutral
AutG79877DCAKD 17 43111636 synonymous c.C235A
AutG1788DNMT3A 2 25466800 missense c.C1903T 0.3113 neutral
AutG10865ARID5A 2 97215971 missense c.G359T 0.79 deleterious
AutG151188ARL6IP6 2 153575211 missense c.C73G 0.0134 neutral
AutG27131SNX5 20 17923824 missense c.A1094G 0.5007 deleterious
AutG57553MICAL3 22 18387403 missense c.A467G 0.9836 deleterious
AutG4134MAP4 3 47957453 missense c.A1864G 0.0103 neutral
AutG1294COL7A1 3 48621941 missense c.C4096T 0.329 neutral
AutG3615IMPDH2 3 49064457 missense c.G555C 0.1613 neutral
AutG9515STXBP5L 3 120628487 missense c.G62A 0.0015 neutral
AutG57491AHRR 5 422895 missense c.C505G 0.3953 deleterious
AutG3702ITK 5 156679654 missense c.G1829A 0.4986 deleterious
AutG6586SLIT3 5 168175351 synonymous c.G2226T
AutG23345SYNE1 6 152771947 missense c.C3229T 0.3053 neutral
AutG7432VIP 6 153075412 nonsense c.T219A
AutG64101LRRC4 7 127670456 missense c.C238G 0.9764 deleterious
AutG136332LRGUK 7 133842813 synonymous c.A696G
AutG83595SOX7 8 10583692 synonymous c.G723A
AutG25879DCAF13 8 104439424 missense c.T1024G 0.005 neutral
AutG10319LAMC3 9 133942350 missense c.G2351A 0.672 deleterious
AutG25878MXRA5 X 3248358 missense c.A410G 0.8912 deleterious
AutG3730KAL1 X 8522080 nonsense c.C1267T
AutG55841WWC3 X 10104728 missense c.G2819A 0.9939 deleterious
AutG190NR0B1 X 30327222 missense c.G259T 0.2428 neutral

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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