AutismKB 2.0

View de novo Variants from PubMed ID: 22495309


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
AutG64579NDST4 4 115997959 coding-synonymous A R Sanger sequencing
AutG9690UBE3C 7 157041114 missense C Y Sanger sequencing
AutG342372PKD1L3 16 71978060 coding-synonymous C Y Sanger sequencing
AutG7204TRIO 5 14388774 missense C Y Sanger sequencing
AutG7113TMPRSS2 21 42842590 missense C Y Sanger sequencing
AutG47ACLY 17 40042385 coding-synonymous G R Sanger sequencing
AutG10721POLQ 3 121208072 missense T W Sanger sequencing
AutG3185HNRNPF 10 43883191 missense T Y Sanger sequencing
AutG11218DDX20 1 112308784 missense T K Sanger sequencing
AutG9857CEP350 1 179983048 missense A M Sanger sequencing
AutG23339VPS39 15 42461938 missense A R Sanger sequencing
AutG389362PSMG4 6 3263960 missense G R Sanger sequencing
AutG9372ZFYVE9 1 52704550 coding-synonymous T K Sanger sequencing
- 20 31473369 missense G R Sanger sequencing
AutG4987OPRL1 20 62729390 missense C Y Sanger sequencing
AutG5047PAEP 9 138454266 missense G K Sanger sequencing
AutG220001VWCE 11 61026394 missense C Y Sanger sequencing
AutG83394PITPNM3 17 6371601 missense T Y Sanger sequencing
AutG58508MLL3 7 151842339 nonsense G K Sanger sequencing
AutG4929NR4A2 2 157185876 missense A R Sanger sequencing
AutG84717HDGFRP2 19 4475539 missense G R Sanger sequencing
AutG6421SFPQ 1 35656105 missense T Y Sanger sequencing
AutG4854NOTCH3 19 15290235 missense C S Sanger sequencing
AutG4666NACA 12 57106655 missense A R Sanger sequencing
AutG4035LRP1 12 57532354 coding-synonymous C Y Sanger sequencing
AutG84465MEGF11 15 66208524 missense G R Sanger sequencing
AutG8120AP3B2 15 83346497 missense C Y Sanger sequencing
AutG80210ARMC9 2 232127057 coding-synonymous C S Sanger sequencing
AutG8607RUVBL1 3 127806574 missense A W Sanger sequencing
AutG154807VKORC1L1 7 65419074 coding-synonymous C Y Sanger sequencing
AutG26262TSPAN17 5 176078840 nonsense C M Sanger sequencing
AutG6294SAFB 19 5657356 coding-synonymous T Y Sanger sequencing
AutG163882CNST 1 246754937 missense G R Sanger sequencing
AutG57084SLC17A6 11 22397637 coding-synonymous T W Sanger sequencing
AutG5728PTEN 10 89711882 missense C M Sanger sequencing
AutG54103PION 7 77006604 missense T K Sanger sequencing
AutG55070DET1 15 89056251 coding-synonymous G R Sanger sequencing
AutG8452CUL3 2 225376218 nonsense C M Sanger sequencing
AutG200558APLF 2 68794512 coding-synonymous G R Sanger sequencing
AutG89797NAV2 11 20119143 coding-synonymous C Y Sanger sequencing
AutG91614DEPDC7 11 33053025 missense C Y Sanger sequencing
AutG57611ISLR2 15 74425536 coding-synonymous C Y Sanger sequencing
AutG4486MST1R 3 49933686 missense T Y Sanger sequencing
AutG144501KRT80 12 52566841 missense A W Sanger sequencing
AutG121340SP7 12 53722742 missense G R Sanger sequencing
AutG23613ZMYND8 20 45875004 missense C Y Sanger sequencing
AutG10716TBR1 2 162273322 frameshift * 1D, -G Sanger sequencing
AutG30061SLC40A1 2 190428392 coding-synonymous A R Sanger sequencing
IRF2BPL 14 77494046 missense G S Sanger sequencing
AutG23019CNOT1 16 58589410 missense G S Sanger sequencing
AutG29850TRPM5 11 2428988 splice C Y Sanger sequencing
AutG115330GPR146 7 1097719 missense A R Sanger sequencing
AutG26873OPLAH 8 145114848 missense C Y Sanger sequencing
AutG27352SGSM3 22 40802589 missense C Y Sanger sequencing
AutG360023ZBTB41 1 197128563 missense A R Sanger sequencing
AutG22949PTGR1 9 114341206 missense C Y Sanger sequencing
AutG221188GPR114 16 57604401 missense G R Sanger sequencing
AutG57125PLXDC1 17 37296037 missense C Y Sanger sequencing
AutG94025MUC16 19 9074510 missense T W Sanger sequencing
AutG23507LRRC8B 1 90049523 coding-synonymous G R Sanger sequencing
AutG8658TNKS 8 9567684 missense G complex, S & intronic Sanger sequencing
AutG8065CUL5 11 107944174 missense G R Sanger sequencing
AutG8632DNAH17 17 76420174 missense G R Sanger sequencing 0.1593 neutral
ERV3-1 7 64452895 coding-synonymous C Y Sanger sequencing
AutG120776OR2D2 11 6913162 coding-synonymous T Y Sanger sequencing
AutG11276SYNRG 17 35946557 missense T K Sanger sequencing
AutG6093ROCK1 18 18572849 coding-synonymous G R Sanger sequencing
AutG3069HDLBP 2 242186202 missense C M Sanger sequencing
AutG1767DNAH5 5 13923403 frameshift * 1D, -A Sanger sequencing
AutG26267FBXO10 9 37541606 missense C Y Sanger sequencing
AutG6487ST3GAL3 1 44201955 missense C Y Sanger sequencing
AutG111ADCY5 3 123046605 missense G R Sanger sequencing
AutG22854NTNG1 1 107867061 missense C Y Sanger sequencing
AutG773CACNA1A 19 13445217 coding-synonymous C S Sanger sequencing
AutG280AMY2B 1 104121995 missense G S Sanger sequencing
AutG3619INCENP 11 61907717 missense G S Sanger sequencing
AutG3316HSPB2 11 111784275 missense C Y Sanger sequencing
AutG5133PDCD1 2 242795103 frameshift * complex, -G & K at 242795103 Sanger sequencing
AutG23199KIAA0182 16 85690061 missense G R Sanger sequencing
AutG142680SLC34A3 9 140127091 coding-synonymous C Y Sanger sequencing
AutG56624ASAH2 10 52005130 frameshift * 1I, +G Sanger sequencing
AutG317APAF1 12 99076979 missense T Y Sanger sequencing
AutG777CACNA1E 1 181708295 missense G R Sanger sequencing
AutG84626KRBA1 7 149420891 missense C S Sanger sequencing
AutG64848YTHDC2 5 112868624 missense C Y Sanger sequencing
AutG54836BSPRY 9 116122804 coding-synonymous G R Sanger sequencing
AutG83667SESN2 1 28595739 missense G R Sanger sequencing
AutG26046LTN1 21 30318550 nonsense C M Sanger sequencing
AutG776CACNA1D 3 53764493 missense C S Sanger sequencing
AutG83473KATNAL2 18 44603833 splice G S Sanger sequencing
AutG23331TTC28 22 28501597 coding-synonymous G K Sanger sequencing
AutG9535GMFG 19 39819156 coding-synonymous A R Sanger sequencing
AutG114571SLC22A9 11 63177286 coding-synonymous C S Sanger sequencing
AutG4193MDM2 12 69233432 missense/nonsense G R Sanger sequencing
AutG374739TEPP 16 58011869 missense G R Sanger sequencing
AutG340554ZC3H12B X 64708914 missense G R Sanger sequencing
AutG55160ARHGEF10L 1 17907117 missense G K Sanger sequencing
AutG649BMP1 8 22067161 missense G R Sanger sequencing
AutG29970SCHIP1 3 159604035 coding-synonymous C Y Sanger sequencing
AutG404636FAM45A 10 120877119 missense G R Sanger sequencing 0.0221 neutral
AutG3991LIPE 19 42910539 coding-synonymous G R Sanger sequencing
AutG728635DHRS4L1 14 24513037 nonsense G R Sanger sequencing
AutG23241PACS2 14 105843213 missense G R Sanger sequencing
AutG57410SCYL1 11 65304530 coding-synonymous G R Sanger sequencing
AutG9699RIMS2 8 104778570 missense G R Sanger sequencing
AutG6734SRPR 11 126134982 missense C Y Sanger sequencing 0.8295 deleterious
AutG1003CDH5 16 66434715 missense C Y Sanger sequencing
AutG84570COL25A1 4 109790273 frameshift * 1D, -T Sanger sequencing
AutG23394ADNP 20 49510027 frameshift * 2D, -TT Sanger sequencing
AutG84725PLEKHA8 7 30085846 missense C M Sanger sequencing
AutG55746NUP133 1 229596508 coding-synonymous T Y Sanger sequencing
AutG22871NLGN1 3 173999004 missense C Y Sanger sequencing
AutG4162MCAM 11 119185283 missense C Y Sanger sequencing
AutG50937CDON 11 125891290 coding-synonymous A R Sanger sequencing
AutG55739CARKD 13 111290774 missense C Y Sanger sequencing
AutG130507UBR3 2 170732427 frameshift * complex, -AAA,+C Sanger sequencing
AutG22996TTC39A 1 51768226 coding-synonymous G R Sanger sequencing
AutG8666EIF3G 19 10229773 coding-synonymous G R Sanger sequencing
AutG116444GRIN3B 19 1004871 coding-synonymous C Y Sanger sequencing
AutG4921DDR2 1 162737120 missense A R Sanger sequencing
AutG643338C15orf62 15 41063220 read-through A W Sanger sequencing
AutG20ABCA2 9 139906388 missense C Y Sanger sequencing
AutG10044SH2D3C 9 130513455 missense C Y Sanger sequencing
AutG63891RNF123 3 49743440 missense A R Sanger sequencing
AutG55133SRBD1 2 45789855 missense G R Sanger sequencing
AutG54962TIPIN 15 66629505 missense T Y Sanger sequencing
AutG23524SRRM2 16 2815062 coding-synonymous C Y Sanger sequencing
AutG375775PNPLA7 9 140357232 missense T K Sanger sequencing
AutG57519STARD9 15 42979758 missense T K Sanger sequencing
AutG1981EIF4G1 3 184042810 missense A M Sanger sequencing
AutG51720UIMC1 5 176409516 missense C Y Sanger sequencing
AutG9056SLC7A7 14 23243580 nonsense G R Sanger sequencing
AutG6491STIL 1 47746823 missense A complex, R & Y at 47746810 Sanger sequencing
AutG26147PHF19 9 123636848 missense C Y Sanger sequencing
AutG5663PSEN1 14 73685855 missense C Y Sanger sequencing
AutG27148STK36 2 219537583 missense G R Sanger sequencing
AutG79718TBL1XR1 3 176765107 missense A R Sanger sequencing
AutG55193PBRM1 3 52643512 missense T Y Sanger sequencing
AutG6596HLTF 3 148773129 coding-synonymous T W Sanger sequencing
AutG10514MYBBP1A 17 4444853 missense G K Sanger sequencing
AutG55777MBD5 2 149225965 frameshift * 2D, -TC Sanger sequencing
AutG6925TCF4 18 52928697 coding-synonymous C Y Sanger sequencing
AutG90121TSR2 X 54467212 missense T K Sanger sequencing
AutG6261RYR1 19 39038884 missense A R Sanger sequencing
AutG54487DGCR8 22 20074137 coding-synonymous C Y Sanger sequencing
AutG11146GLMN 1 92729282 missense C Y Sanger sequencing
AutG124222PAQR4 16 3021892 coding-synonymous C Y Sanger sequencing
AutG1303COL12A1 6 75875492 missense C Y Sanger sequencing
AutG7474WNT5A 3 55504413 coding-synonymous A R Sanger sequencing
AutG3673ITGA2 5 52340901 coding-synonymous C Y Sanger sequencing
AutG3913LAMB2 3 49166218 missense C S Sanger sequencing
AutG4849CNOT3 19 54656675 frameshift * 2D, -TG Sanger sequencing
AutG285237C3orf38 3 88205377 coding-synonymous A R Sanger sequencing
AutG9958USP15 12 62775296 frameshift * 4D, -TGAG Sanger sequencing
AutG22854NTNG1 1 107691283 missense A R Sanger sequencing
AutG285527FRYL 4 48514594 missense T K Sanger sequencing
AutG91283C9orf30 9 103213020 coding-synonymous A R Sanger sequencing
AutG79829NAA40 11 63713339 missense A M Sanger sequencing
AutG29072SETD2 3 47098932 frameshift * 1D, -T Sanger sequencing
AutG84301DDI2 1 15956938 coding-synonymous T K Sanger sequencing
AutG54596L1TD1 1 62672433 missense T Y Sanger sequencing
METTL20 12 31820918 coding-synonymous G R Sanger sequencing
AutG9856KIAA0319 6 24564464 coding-synonymous C Y Sanger sequencing
AutG7249TSC2 16 2136269 missense C Y Sanger sequencing
AutG2571GAD1 2 171704248 coding-synonymous G R Sanger sequencing
AutG971CD72 9 35611807 missense C Y Sanger sequencing
AutG50839TAS2R10 12 10978472 missense T W Sanger sequencing
AutG1107CHD3 17 7812028 missense C Y Sanger sequencing
AutG147798TMC4 19 54672377 missense A R Sanger sequencing 0.5352 deleterious
AutG84146ZNF644 1 91405302 missense C Y Sanger sequencing
AutG731220RFX8 2 102014147 missense C Y Sanger sequencing
AutG53841CDHR5 11 618678 coding-synonymous T K Sanger sequencing
AutG4189DNAJB9 7 108213622 missense T K Sanger sequencing
AutG3633INPP5B 1 38411441 missense C Y Sanger sequencing
AutG1499CTNNB1 3 41275757 missense C Y Sanger sequencing
AutG405ARNT 1 150789281 coding-synonymous C M Sanger sequencing
AutG9797TATDN2 3 10302080 missense C S Sanger sequencing
AutG30846EHD2 19 48221860 missense C Y Sanger sequencing
AutG5578PRKCA 17 64684446 missense G R Sanger sequencing
AutG10788IQGAP2 5 75902128 nonsense C Y Sanger sequencing
AutG2109ETFB 19 51848515 nonsense C M Sanger sequencing
AutG57680CHD8 14 21861376 frameshift * 2D, -CT Sanger sequencing
AutG128368OR10Z1 1 158576351 missense C M Sanger sequencing
AutG4648MYO7B 2 128381815 missense C Y Sanger sequencing
AutG26040SETBP1 18 42532021 frameshift * complex, +GG&-C Sanger sequencing
AutG8997KALRN 3 124281800 coding-synonymous C Y Sanger sequencing
AutG10553HTATIP2 11 20404729 missense C Y Sanger sequencing
AutG9889ZBED4 22 50279386 coding-synonymous C Y Sanger sequencing
AutG23197FAF2 5 175933795 coding-synonymous G R Sanger sequencing
AutG6548SLC9A1 1 27440599 coding-synonymous C S Sanger sequencing
AutG22990PCNX 14 71555929 missense A R Sanger sequencing
AutG6197RPS6KA3 X 20193403 nonsense G S Sanger sequencing
AutG391189OR11L1 1 248005027 missense G S Sanger sequencing
AutG56886UGGT1 2 128938561 missense G R Sanger sequencing
AutG64118DUS1L 17 80020802 missense G R Sanger sequencing
AutG56963RGMA 15 93588446 missense C Y Sanger sequencing
AutG5442POLRMT 19 630058 nonsense G R Sanger sequencing
AutG53ACP2 11 47270271 missense C Y Sanger sequencing
AutG147923ZNF420 19 37618120 missense T Y Sanger sequencing
AutG9703KIAA0100 17 26961045 nonsense G R Sanger sequencing
AutG2767GNA11 19 3118953 coding-synonymous C M Sanger sequencing
AutG1803DPP4 2 162865169 coding-synonymous T Y Sanger sequencing
AutG54552GNL3L X 54586960 coding-synonymous C Y Sanger sequencing
AutG4850CNOT4 7 135122938 missense C Y Sanger sequencing
AutG55064C9orf68 9 4605416 coding-synonymous T W Sanger sequencing
AutG9024BRSK2 11 1466811 Del_aa * 3D, -AGA Sanger sequencing
AutG57492ARID1B 6 157527664 frameshift * 4D, -TGTT Sanger sequencing
AutG9221NOLC1 10 103917282 missense T K Sanger sequencing
AutG4288MKI67 10 129903200 missense A R Sanger sequencing
AutG53919SLCO1C1 12 20864352 missense A R Sanger sequencing
AutG7273TTN 2 179436520 missense C Y Sanger sequencing
AutG1154CISH 3 50645313 missense T W Sanger sequencing
AutG79413ZBED2 3 111312622 coding-synonymous G R Sanger sequencing
AutG203062TSNARE1 8 143356191 missense G R Sanger sequencing
AutG26166RGS22 8 100990260 missense C M Sanger sequencing
AutG94239H2AFV 7 44875212 missense G R Sanger sequencing
AutG9578CDC42BPB 14 103434646 nonsense G R Sanger sequencing
AutG5796PTPRK 6 128326372 missense C Y Sanger sequencing
AutG2873GPS1 17 80014816 missense G R Sanger sequencing 0.9322 deleterious
AutG11181TREH 11 118532369 missense C M Sanger sequencing
AutG5226PGD 1 10473286 coding-synonymous C Y Sanger sequencing
AutG9254CACNA2D2 3 50425026 coding-synonymous G R Sanger sequencing
AutG55636CHD7 8 61735090 missense G R Sanger sequencing
AutG1990CELA1 12 51723570 coding-synonymous A R Sanger sequencing
AutG4628MYH10 17 8457299 missense T Y Sanger sequencing
POLR2M 15 58001002 inframe * 3D, -GAA Sanger sequencing
AutG56131PCDHB4 5 140503243 missense G S Sanger sequencing
AutG6305SBF1 22 50899030 missense T Y Sanger sequencing
AutG51163DBR1 3 137885960 missense T Y Sanger sequencing
AutG84694GJA10 6 90605047 missense A R Sanger sequencing
AutG10130PDIA6 2 10931993 missense T Y Sanger sequencing
AutG3690ITGB3 17 45368327 missense G R Sanger sequencing
AutG4134MAP4 3 47969769 missense C M Sanger sequencing
AutG9536PTGES 9 132501907 missense C Y Sanger sequencing
AutG79705LRRK1 15 101569435 coding-synonymous C Y Sanger sequencing
AutG8029CUBN 10 17127755 nonsense G R Sanger sequencing
AutG57680CHD8 14 21871178 nonsense G R Sanger sequencing
AutG22878TRAPPC8 18 29444743 coding-synonymous T Y Sanger sequencing
AutG2956MSH6 2 48026852 missense G R Sanger sequencing
AutG1859DYRK1A 21 38865466 splice G R Sanger sequencing
AutG84261FBXW9 19 12800074 missense C Y Sanger sequencing
AutG54014BRWD1 21 40568453 frameshift * 1D, -T Sanger sequencing

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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