AutismKB 2.0

View de novo Variants from PubMed ID: 28344757


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
AutG54834GDAP2 1 118426130 synonymous SNV G A
AutG54556ING3 7 120614925 . A G
AutG22992KDM2A 11 67007740 frameshift insertion C CT
AutG6566SLC16A1 1 113460234 nonsynonymous SNV A G 0.9995 deleterious
AutG90187EMILIN3 20 39991214 nonsynonymous SNV A G 0.942 deleterious
AutG5803PTPRZ1 7 121684623 . G T
AutG9739SETD1A 16 30975596 nonsynonymous SNV C T 0.1021 neutral
AutG353131LCE1A 1 152800137 synonymous SNV G A
AutG11120BTN2A1 6 26463682 nonsynonymous SNV T C 0.0431 neutral
AutG91369ANKRD40 17 48776796 nonsynonymous SNV A G 0.0999 neutral
AutG26257NKX2-8 14 37050458 synonymous SNV G A
AutG4036LRP2 2 170030556 nonsynonymous SNV G C 0.8903 deleterious
AutG399909PCNXL3 11 65403905 synonymous SNV G A
AutG727910TLCD2 17 1611428 nonsynonymous SNV C A 0.6577 deleterious
AutG288ANK3 10 62023648 nonsynonymous SNV G A 0.0285 neutral
AutG9332CD163 12 7647881 nonsynonymous SNV C G 0.282 neutral
AutG2049EPHB3 3 184297701 synonymous SNV C T
AutG6888TALDO1 11 758966 nonsynonymous SNV A G 0.087 neutral
AutG83595SOX7 8 10583812 synonymous SNV C T
AutG10509SEMA4B 15 90771256 nonsynonymous SNV C T 0.0299 neutral
AutG57644MYH7B 20 33567509 nonsynonymous SNV C G 0.3484 neutral
AutG221545C6orf136 6 30615559 nonsynonymous SNV C G 0.0023 neutral
AutG55295KLHL26 19 18778486 synonymous SNV C T
AutG10607TBL3 16 2025006 stopgain C G
AutG80834TAS1R2 1 19166809 nonsynonymous SNV G T 0.364 neutral
AutG219473OR8K3 11 56086068 nonsynonymous SNV T C 0.2183 neutral
AutG80313LRRC27 10 134158126 synonymous SNV C T
AutG9846GAB2 11 77938015 nonsynonymous SNV C G 0.1352 neutral
CEP295 11 93458987 synonymous SNV T C
AutG10411RAPGEF3 12 48152505 . A C
AutG147660ZNF578 19 53015256 frameshift insertion G GT
AutG11234HPS5 11 18313160 nonsynonymous SNV T C 0.0034 neutral
AutG78994PRR14 16 30666220 nonsynonymous SNV G A 0.1116 neutral
AutG84318CCDC77 12 551033 frameshift deletion AAG A
AutG1045CDX2 13 28543127 nonsynonymous SNV A C 0.9977 deleterious
AutG57700FAM160B1 10 116621094 . G A
AutG4146MATN1 1 31194365 nonsynonymous SNV G A 0.7368 deleterious
APMAP 20 24964537 . A G
AutG85295KRTAP2-3 17 39216220 nonsynonymous SNV G A 0.8137 deleterious
AutG23140ZZEF1 17 3978572 nonsynonymous SNV C T 0.9968 deleterious
AutG10562OLFM4 13 53624124 nonsynonymous SNV G A 0.3377 neutral
AutG9948WDR1 4 10117822 nonsynonymous SNV C T 0.4777 deleterious
AutG23042PDXDC1 16 15112743 nonsynonymous SNV G A 0.604 deleterious
AutG6687SPG7 16 89613072 nonsynonymous SNV C T 0.1251 neutral
AutG2898GRIK2 6 102483286 nonsynonymous SNV A G 0.3423 neutral
AutG89932PAPLN 14 73729315 nonsynonymous SNV G A 0.0581 neutral
AutG9175MAP3K13 3 185198194 synonymous SNV G A
AutG1750DLX6 7 96635679 synonymous SNV C T
AutG25865PRKD2 19 47181869 nonsynonymous SNV G A 0.0145 neutral
AutG1936EEF1D 8 144671359 nonsynonymous SNV G A 0.0189 neutral
AutG1936EEF1D 8 144671357 nonsynonymous SNV G A 0.0108 neutral
AutG57680CHD8 14 21873391 nonsynonymous SNV C T 0.999 deleterious
AutG348807CCDC37 3 126114864 synonymous SNV T C
AutG57862ZNF410 14 74353493 . G C
AutG5947RBP1 3 139257724 nonsynonymous SNV T C 0.0376 neutral
AutG7482WNT2B 1 113010107 . C A
AutG54464XRN1 3 142083987 nonsynonymous SNV C T 0.3149 neutral
AutG57223SMEK2 2 55825640 nonsynonymous SNV G C
AutG1778DYNC1H1 14 102508760 stopgain G A
AutG23130ATG2A 11 64667998 nonsynonymous SNV G A 0.076 neutral
AutG57498KIDINS220 2 8871599 nonsynonymous SNV C T 0.9695 deleterious
AutG5881RAC3 17 79990682 nonsynonymous SNV G A 0.9562 deleterious
AutG23347SMCHD1 18 2667020 synonymous SNV A G
AutG55341LSG1 3 194386345 synonymous SNV C T
AutG92610TIFA 4 113199374 stopgain G A
AutG57621ZBTB2 6 151687957 nonsynonymous SNV T C 0.9705 deleterious
AutG11187PKP3 11 396860 nonsynonymous SNV C T 0.3794 deleterious
AutG23352UBR4 1 19403354 nonsynonymous SNV G C 0.5125 deleterious
AutG777CACNA1E 1 181686288 nonsynonymous SNV C T 0.9758 deleterious
AutG10260DENND4A 15 66048521 nonsynonymous SNV A G 0.9726 deleterious
AutG84079ANKRD27 19 33135343 nonsynonymous SNV A G 0.9771 deleterious
AutG4135MAP6 11 75319204 nonsynonymous SNV G A 0.8272 deleterious
AutG8021NUP214 9 134000981 . C G
AutG149041RC3H1 1 173947674 stopgain G A
AutG2264FGFR4 5 176520523 synonymous SNV C T
AutG3115HLA-DPB1 6 33053592 nonsynonymous SNV C T 0.2993 neutral
AutG8310ACOX3 4 8401309 nonsynonymous SNV C T 0.2768 neutral
AutG8000PSCA 8 143762748 nonsynonymous SNV C G 0.0103 neutral
AutG51116MRPS2 9 138392846 nonsynonymous SNV G T 0.0118 neutral
AutG57182ANKRD50 4 125591221 nonsynonymous SNV G T 0.8869 deleterious
AutG127247ASB17 1 76387833 nonsynonymous SNV C T 0.0083 neutral
AutG8688KRT37 17 39577674 nonsynonymous SNV G A 0.2328 neutral
AutG4583MUC2 11 1075819 nonsynonymous SNV C T 0.0078 neutral
AutG338APOB 2 21229188 nonsynonymous SNV T G 0.5468 deleterious
AutG27086FOXP1 3 71027145 frameshift insertion G GGACTT
AutG11137PWP1 12 108090356 nonsynonymous SNV C T 0.6024 deleterious
AutG9958USP15 12 62778084 . G A
AutG5799PTPRN2 7 157959743 nonsynonymous SNV C T 0.0074 neutral
AutG717C2 6 31896646 nonsynonymous SNV C T 0.0853 neutral
AutG23286WWC1 5 167887718 nonsynonymous SNV C A 0.0028 neutral
AutG100271715ARHGEF33 2 39184185 nonsynonymous SNV A G 0.2792 neutral
AutG7025NR2F1 5 92920811 stopgain C T
AutG9070ASH2L 8 37993231 nonsynonymous SNV G C 0.0171 neutral
AutG22874PLEKHA6 1 204237413 nonsynonymous SNV C T 0.0364 neutral
AutG125061AFMID 17 76183461 nonsynonymous SNV G T 0.2181 neutral
AutG1462VCAN 5 82833531 nonsynonymous SNV T G 0.0131 neutral
AutG84033OBSCN 1 228447223 nonsynonymous SNV A G 0.0862 neutral
AutG7297TYK2 19 10464269 nonsynonymous SNV C T 0.8918 deleterious
AutG3660IRF2 4 185320175 synonymous SNV C T
AutG283948NHLRC4 16 617668 . G A
AutG54894RNF43 17 56435546 nonsynonymous SNV G A 0.0016 neutral
AutG4643MYO1E 15 59487682 nonsynonymous SNV G A 0.5 deleterious
AutG79726WDR59 16 74927685 nonsynonymous SNV C T 0.5995 deleterious
CEMIP 15 81224214 nonsynonymous SNV G C 0.7605 deleterious
AutG200879LIPH 3 185229388 nonsynonymous SNV T C 0.8186 deleterious
AutG53827FXYD5 19 35655068 frameshift deletion CT C
AutG9682KDM4A 1 44132164 nonsynonymous SNV C T 0.1292 neutral
AutG10020GNE 9 36246115 nonsynonymous SNV G A 0.8697 deleterious
AutG23635SSBP2 5 80714132 . A G
AutG200008CDCP2 1 54610291 nonsynonymous SNV T C 0.8203 deleterious
AutG56934CA10 17 50235121 nonsynonymous SNV A G 0.5125 deleterious
AutG57622LRFN1 19 39805743 synonymous SNV G A
AutG26999CYFIP2 5 156819928 nonsynonymous SNV G A 0.988 deleterious
VWA8 13 42265576 nonsynonymous SNV C A 0.0896 neutral
AutG93649MYOCD 17 12656157 nonsynonymous SNV G T 0.9984 deleterious
AutG5930RBBP6 16 24580513 synonymous SNV T C
AutG6916TBXAS1 7 139652364 synonymous SNV C T
AutG11133KPTN 19 47986791 synonymous SNV G T
AutG6652SORD 15 45353297 stopgain C T
AutG283149BCL9L 11 118779312 nonsynonymous SNV G A 0.135 neutral
AutG9064MAP3K6 1 27685327 nonsynonymous SNV A G 0.0195 neutral
AutG10765KDM5B 1 202719900 stopgain G A
AutG57463AMIGO1 1 110050709 nonsynonymous SNV G A 0.0671 neutral
AutG54821ERCC6L X 71428206 synonymous SNV G A
AutG2036EPB41L1 20 34765932 nonsynonymous SNV A G 0.9995 deleterious
AutG5339PLEC 8 144998708 nonsynonymous SNV G A 0.7985 deleterious
AutG8515ITGA10 1 145534964 nonsynonymous SNV G A 0.0731 neutral
AutG23527ACAP2 3 195063205 nonsynonymous SNV G A 0.3257 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved