AutismKB 2.0

View de novo Variants from PubMed ID: 28263302


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
AutG23505TMEM131 2 98429018 C T HiSeq X and Sanger
AutG51322WAC 10 28903528 frameshift deletion TCACA TCA HiSeq X and Sanger
AutG55975KLHL7 7 23191720 stopgain C T HiSeq X and Sanger
AutG9066SYT7 11 61314661 stopgain G A HiSeq X and Sanger
AutG6601SMARCC2 12 56567574 stopgain G A HiSeq X and Sanger
AutG22979EFR3B 2 25360307 frameshift deletion CAGCATCGAGC CAGC HiSeq X and Sanger
AutG23089PEG10 7 94294003 frameshift insertion TC TCC HiSeq X and Sanger
AutG5510PPP1R7 2 242098627 frameshift deletion ACT A HiSeq X and Sanger
STKLD1 9 136245993 G A HiSeq X and Sanger
AutG64324NSD1 5 176636717 stopgain C T HiSeq X and Sanger
AutG121512FGD4 12 32786564 frameshift deletion AT A HiSeq X and Sanger
AutG813CALU 7 128379486 G T HiSeq X and Sanger
AutG2897GRIK1 21 30961290 stopgain G T HiSeq X and Sanger 0.0025 neutral
AutG55636CHD7 8 61769254 frameshift deletion ACCAGTGTCTG A HiSeq X and Sanger
AutG11344TWF2 3 52263209 frameshift deletion ATC A HiSeq X and Sanger
AutG55076TMEM45A 3 100295832 stopgain C T HiSeq X and Sanger
AutG3371TNC 9 117808799 frameshift insertion C CG HiSeq X and Sanger
AutG10847SRCAP 16 30740737 frameshift deletion ATGCC A HiSeq X and Sanger
AutG134265AFAP1L1 5 148681996 frameshift insertion C CA HiSeq X and Sanger
AutG9321TRIP11 14 92470325 frameshift deletion CT C HiSeq X and Sanger
AutG23394ADNP 20 49508080 stopgain A T HiSeq X and Sanger
AutG4204MECP2 X 153296591 frameshift insertion C CG HiSeq X and Sanger
AutG1121CHM X 85233895 C T HiSeq X and Sanger 0.6339 deleterious
NME8 7 37889877 frameshift insertion A AAAAAACG HiSeq X and Sanger
AutG4849CNOT3 19 54653359 frameshift deletion CAG C HiSeq X and Sanger
AutG22941SHANK2 11 70336410 stopgain G A HiSeq X and Sanger
AutG84056KATNAL1 13 30815116 frameshift deletion GATA GA HiSeq X and Sanger
AutG9603NFE2L3 7 26224263 frameshift insertion CAT CATAT HiSeq X and Sanger
AutG83999KREMEN1 22 29490351 stopgain C A HiSeq X and Sanger
AutG6418SET 9 131446286 G C HiSeq X and Sanger 0.3018 neutral
AutG6418SET 9 131446286 G C HiSeq X and Sanger 0.3018 neutral
SLC35G1 10 95660507 G C HiSeq X and Sanger
AutG388536ZNF790 19 37310284 stopgain G A HiSeq X and Sanger
AutG100129654TCF24 8 67860293 stopgain G A HiSeq X and Sanger
AutG1654DDX3X X 41202564 frameshift deletion AT A HiSeq X and Sanger
AutG57680CHD8 14 21861804 frameshift insertion G GT HiSeq X and Sanger
AutG9344TAOK2 16 30002794 frameshift deletion TGGGCCCCCCTGCTGCCGCGGTGCCC T HiSeq X and Sanger
AutG253512SLC25A30 13 45980041 stopgain G A HiSeq X and Sanger
AutG11128POLR3A 10 79743676 C T HiSeq X and Sanger
AutG7403KDM6A X 44938511 frameshift insertion CT CTT HiSeq X and Sanger
AutG114783LMTK3 19 49002674 frameshift deletion GC G HiSeq X and Sanger
AutG5306PITPNA 17 1437418 stopgain C A HiSeq X and Sanger
AutG55074OXR1 8 107752663 stopgain C T HiSeq X and Sanger
AutG93517SDR42E1 16 82033419 stopgain C A HiSeq X and Sanger
AutG64768IPPK 9 95432255 frameshift insertion CTT CTTT HiSeq X and Sanger
CCM2L 20 30602724 stopgain C T HiSeq X and Sanger
AutG1762DMWD 19 46289385 frameshift deletion CA C HiSeq X and Sanger
AutG90957DHX57 2 39090539 stopgain G A HiSeq X and Sanger
AutG51232CRIM1 2 36668494 frameshift deletion TGGGG TGGG HiSeq X and Sanger
AutG8942KYNU 2 143798227 G T HiSeq X and Sanger
AutG6942TCF20 22 42610275 stopgain G A HiSeq X and Sanger
AutG6812STXBP1 9 130444715 frameshift deletion GC G HiSeq X and Sanger
AutG4863NPAT 11 108044473 stopgain G A HiSeq X and Sanger
AutG23394ADNP 20 49510211 frameshift deletion TTGACTGAC TTGAC HiSeq X and Sanger
AutG6326SCN2A 2 166245189 frameshift deletion TCC TC HiSeq X and Sanger
AutG254048UBN2 7 138958061 stopgain C T HiSeq X and Sanger
AutG57492ARID1B 6 157150546 stopgain C T HiSeq X and Sanger
AutG3832KIF11 10 94373232 frameshift deletion AG A HiSeq X and Sanger
AutG374354NHLRC2 10 115636458 frameshift deletion CGTGGAAACATGTTGTTT C HiSeq X and Sanger
AutG3785KCNQ2 20 62038127 frameshift insertion C CT HiSeq X and Sanger
AutG55833UBAP2 9 33989058 frameshift deletion CTCTTT CT HiSeq X and Sanger
AutG128240APOA1BP 1 156562184 frameshift insertion G GC HiSeq X and Sanger
KMT2A 11 118374300 frameshift deletion CTG C HiSeq X and Sanger
HYKK 15 78805672 frameshift deletion GA G HiSeq X and Sanger
AutG9904RBM19 12 114362500 C T HiSeq X and Sanger
AutG200035NUDT17 1 145589056 T A HiSeq X and Sanger
AutG140803TRPM6 9 77353333 stopgain A T HiSeq X and Sanger
AutG8864PER2 2 239171590 frameshift deletion ACTCT ACT HiSeq X and Sanger
AutG23001WDFY3 4 85605093 frameshift deletion ACCC ACC HiSeq X and Sanger
AutG23013SPEN 1 16258126 stopgain C T HiSeq X and Sanger
AutG8906AP1G2 14 24034326 C T HiSeq X and Sanger
AutG563AZGP1 7 99573612 frameshift deletion GA G HiSeq X and Sanger
AutG57680CHD8 14 21865979 A T HiSeq X and Sanger
AutG10659CELF2 10 11299712 frameshift insertion GAAAA GAAAAA HiSeq X and Sanger
AutG221786FAM200A 7 99145990 frameshift deletion CT C HiSeq X and Sanger
AutG85442KNDC1 10 135027506 frameshift deletion ACC AC HiSeq X and Sanger
AutG4285MIPEP 13 24436437 TA TAA HiSeq X and Sanger
AutG9515STXBP5L 3 120673792 frameshift deletion CG C HiSeq X and Sanger
AutG9908G3BP2 4 76582915 T C HiSeq X and Sanger
AutG389075RESP18 2 220193654 frameshift deletion TATAG T HiSeq X and Sanger
HECTD4 12 112669402 frameshift insertion T TG HiSeq X and Sanger
AutG2077ERF 19 42753716 stopgain G A HiSeq X and Sanger
AutG6323SCN1A 2 166848294 frameshift deletion CTG C HiSeq X and Sanger
ANOS1 X 8522079 stopgain G A HiSeq X and Sanger
AutG4076CAPRIN1 11 34107923 stopgain C T HiSeq X and Sanger
AutG55108BSDC1 1 32852480 frameshift deletion CCA C HiSeq X and Sanger
AutG8455ATRN 20 3452126 frameshift insertion GT GTT HiSeq X and Sanger
AutG11112HIBADH 7 27669027 frameshift deletion TTCTC T HiSeq X and Sanger
AutG10765KDM5B 1 202727532 frameshift insertion TG TGG HiSeq X and Sanger
AutG159195USP54 10 75294479 frameshift insertion TCC TCCC HiSeq X and Sanger
AutG23152CIC 19 42777516 stopgain C T HiSeq X and Sanger
AutG142686ASB14 3 57321934 frameshift deletion GAA G HiSeq X and Sanger
AutG55127HEATR1 1 236759211 frameshift deletion TC T HiSeq X and Sanger
PRR14L 22 32108904 stopgain A T HiSeq X and Sanger 0.5334 deleterious
AutG85358SHANK3 22 51160792 frameshift insertion TGGGGG TGGGGGG HiSeq X and Sanger
AutG54464XRN1 3 142139977 frameshift insertion G GT HiSeq X and Sanger
AutG1586CYP17A1 10 104596940 frameshift deletion AT A HiSeq X and Sanger
AutG84909C9orf3 9 97718193 frameshift deletion ACTTCCTTC ACTTC HiSeq X and Sanger
AutG6780STAU1 20 47739663 stopgain G A HiSeq X and Sanger
AutG91662NLRP12 19 54308705 T G HiSeq X and Sanger
AutG27258LSM3 3 14223146 stopgain C T HiSeq X and Sanger
AutG80816ASXL3 18 31324717 stopgain C T HiSeq X and Sanger
AutG6453ITSN1 21 35190683 frameshift deletion CAT C HiSeq X and Sanger
AutG9821RB1CC1 8 53537291 stopgain GT GTT HiSeq X and Sanger
AutG10146G3BP1 5 151166276 G A HiSeq X and Sanger 0.0793 neutral
AutG55870ASH1L 1 155324287 stopgain G A HiSeq X and Sanger
AutG9398CD101 1 117554182 frameshift deletion ACCC ACC HiSeq X and Sanger
AutG10253SPRY2 13 80911548 stopgain G A HiSeq X and Sanger
AutG114788CSMD3 8 114388958 ATATCTA ATATCTATCTA HiSeq X and Sanger
AutG53827FXYD5 19 35648394 stopgain C T HiSeq X and Sanger
AutG79869CPSF7 11 61183967 stopgain G A HiSeq X and Sanger
AutG8295TRRAP 7 98574116 frameshift insertion TGAGATAAG TGAGATAAGAGATAAG HiSeq X and Sanger
AutG2972BRF1 14 105695155 C A HiSeq X and Sanger
AutG8396PIP4K2B 17 36927265 frameshift deletion CTTTCATGGCTTTTCATGGC CTTTCATGGC HiSeq X and Sanger
AutG140775SMCR8 17 18221161 frameshift insertion GACA GACACA HiSeq X and Sanger
AutG10059DNM1L 12 32861132 frameshift deletion CAGA CA HiSeq X and Sanger
AutG57592ZNF687 1 151260449 frameshift deletion CACCTGCA C HiSeq X and Sanger
HELZ2 20 62194948 frameshift deletion GCCC GCC HiSeq X and Sanger
AutG85358SHANK3 22 51153475 G A HiSeq X and Sanger
AutG6660SOX5 12 23999045 stopgain G A HiSeq X and Sanger
AutG162681C18orf54 18 51889162 frameshift insertion CTT CTTT HiSeq X and Sanger
AutG79142PHF23 17 7140735 frameshift deletion CCAAAACAAAAC CCAAAAC HiSeq X and Sanger
AutG5684PSMA3 14 58737715 GGT G HiSeq X and Sanger
AutG54677CROT 7 86988627 frameshift insertion A AG HiSeq X and Sanger
AutG85358SHANK3 22 51159130 frameshift deletion AG A HiSeq X and Sanger
AutG54487DGCR8 22 20074157 frameshift deletion CG C HiSeq X and Sanger
AutG145447ABHD12B 14 51355598 frameshift deletion GTATCAATTATC GTATC HiSeq X and Sanger
AutG10864SLC22A7 6 43269430 G T HiSeq X and Sanger 0.9841 deleterious
AutG414318C9orf106 9 132084673 frameshift deletion CA C HiSeq X and Sanger
AutG80155NAA15 4 140264104 frameshift deletion AACACA AACA HiSeq X and Sanger
AutG6529SLC6A1 3 11067142 stopgain C A HiSeq X and Sanger
AutG6529SLC6A1 3 11067142 stopgain C A HiSeq X and Sanger
ADTRP 6 11723582 stopgain C T HiSeq X and Sanger 0.3085 neutral
AutG202243CCDC125 5 68578753 frameshift deletion ATTTTTTT ATTTTTT HiSeq X and Sanger
AutG55802DCP1A 3 53321635 stopgain G A HiSeq X and Sanger
AutG29909GPR171 3 150916906 frameshift insertion TA TAA HiSeq X and Sanger
AutG4436MSH2 2 47643525 stopgain G A HiSeq X and Sanger
AutG1879EBF1 5 158140033 stopgain G T HiSeq X and Sanger
AutG22895RPH3A 12 113314541 stopgain C T HiSeq X and Sanger
AutG1488CTBP2 10 126681769 C T HiSeq X and Sanger
AutG9578CDC42BPB 14 103442067 frameshift deletion ATTTCTTT ATTT HiSeq X and Sanger
AutG5601MAPK9 5 179675991 frameshift deletion ACCC ACC HiSeq X and Sanger
AutG100132074FOXO6 1 41847733 frameshift deletion GCC GC HiSeq X and Sanger
AutG200186CRTC2 1 153923769 frameshift insertion G GT HiSeq X and Sanger
AutG552AVPR1A 12 63543651 stopgain C T HiSeq X and Sanger
AutG23443SLC35A3 1 100480976 G A HiSeq X and Sanger
AutG10194TSHZ1 18 72997768 frameshift deletion TAAA TAA HiSeq X and Sanger
AutG23307FKBP15 9 115938947 stopgain G A HiSeq X and Sanger
AutG54897CASZ1 1 10699874 frameshift insertion GAA GAAA HiSeq X and Sanger
AutG54897CASZ1 1 10699874 frameshift insertion GAA GAAA HiSeq X and Sanger
AutG219699UNC5B 10 73046443 A T HiSeq X and Sanger
AutG219699UNC5B 10 73046443 A T HiSeq X and Sanger
AutG9866TRIM66 11 8673345 C T HiSeq X and Sanger
AutG10594PRPF8 17 1580857 C G HiSeq X and Sanger
AutG22795NID2 14 52472448 TTTTA TTTTATTTA HiSeq X and Sanger
AutG2178FANCE 6 35423695 stopgain C T HiSeq X and Sanger
AutG23469PHF3 6 64413518 frameshift deletion CACAGACAG CACAG HiSeq X and Sanger
AutG10207INADL 1 62579916 stopgain C T HiSeq X and Sanger
AutG6093ROCK1 18 18562716 CACTTAC CAC HiSeq X and Sanger
AutG150771ITPRIPL1 2 96992507 stopgain C T HiSeq X and Sanger
AutG727C5 9 123753483 frameshift deletion TCC TC HiSeq X and Sanger
AutG7098TLR3 4 186997803 frameshift deletion TGGGGGGG TGGGGGG HiSeq X and Sanger
AutG57835SLC4A5 2 74460634 stopgain C T HiSeq X and Sanger
AutG1298COL9A2 1 40767005 stopgain G A HiSeq X and Sanger
AutG9969MED13 17 60088343 stopgain G A HiSeq X and Sanger
MICU2 13 22096779 frameshift deletion GAAA GAA HiSeq X and Sanger
AutG955ENTPD6 20 25194012 stopgain G T HiSeq X and Sanger
AutG202333CMYA5 5 79025667 frameshift deletion ACAGTCAGT ACAGT HiSeq X and Sanger
AutG9990SLC12A6 15 34536214 stopgain G A HiSeq X and Sanger
AutG3275PRMT2 21 48068399 frameshift insertion CCAC CCACAC HiSeq X and Sanger
AutG64118DUS1L 17 80019814 frameshift deletion CAG C HiSeq X and Sanger
AutG153241CEP120 5 122718490 stopgain G T HiSeq X and Sanger
AutG3061HCRTR1 1 32090596 G C HiSeq X and Sanger
AutG10466COG5 7 106851655 frameshift deletion TGG TG HiSeq X and Sanger
AutG54461FBXW5 9 139836000 stopgain G T HiSeq X and Sanger
ICE1 5 5447859 frameshift insertion GAAAAA GAAAAAA HiSeq X and Sanger
AutG905CCNT2 2 135710843 frameshift insertion A AAT HiSeq X and Sanger
AutG9774BCLAF1 6 136582483 stopgain G C HiSeq X and Sanger 0.9332 deleterious
AutG51281ANKMY1 2 241492374 stopgain G A HiSeq X and Sanger
CFAP43 10 105920793 C T HiSeq X and Sanger
AutG5373PMM2 16 8906896 stopgain C A HiSeq X and Sanger
AutG124641OVCA2 17 1945489 frameshift deletion ACCCCCC ACCCCC HiSeq X and Sanger
AutG7430EZR 6 159240347 C T HiSeq X and Sanger
AutG5728PTEN 10 89692960 stopgain C T HiSeq X and Sanger
AutG55733HHAT 1 210522328 stopgain C T HiSeq X and Sanger
AutG53905DUOX1 15 45436232 G C HiSeq X and Sanger
AutG79572ATP13A3 3 194146080 stopgain G T HiSeq X and Sanger
AutG54431DNAJC10 2 183583006 frameshift deletion AT A HiSeq X and Sanger
AutG3151HMGN2 1 26800626 G T HiSeq X and Sanger 0.3527 neutral
AutG3693ITGB5 3 124560282 stopgain G A HiSeq X and Sanger
AutG10058ABCB6 2 220075779 frameshift deletion AGTGT AGT HiSeq X and Sanger
AutG146802SLC47A2 17 19583282 stopgain T A HiSeq X and Sanger 0.0116 neutral
AutG9652TTC37 5 94830465 stopgain A T HiSeq X and Sanger
AutG23431AP4E1 15 51294757 stopgain C T HiSeq X and Sanger
AutG9793CKAP5 11 46811684 stopgain G A HiSeq X and Sanger
AutG406ARNTL 11 13399901 frameshift insertion ACCCC ACCCCC HiSeq X and Sanger
AutG124056NOXO1 16 2031167 stopgain G A HiSeq X and Sanger
AutG4361MRE11A 11 94192626 stopgain G A HiSeq X and Sanger
AutG11201POLI 18 51795940 stopgain G T HiSeq X and Sanger
AutG4038LRP4 11 46897495 stopgain C T HiSeq X and Sanger 0.4888 neutral
AutG57649PHF12 17 27244344 frameshift insertion AGGGGGG AGGGGGGG HiSeq X and Sanger
AutG5528PPP2R5D 6 42978705 frameshift deletion AAGAG AAG HiSeq X and Sanger
AutG9295SRSF11 1 70697982 frameshift deletion CTG C HiSeq X and Sanger
AutG23040MYT1L 2 1926775 frameshift deletion ACTGT A HiSeq X and Sanger
AutG6326SCN2A 2 166170548 frameshift deletion GGCTGAACAGAAGGAAGCTGAATTTCAGCAGAT G HiSeq X and Sanger
AutG6326SCN2A 2 166245189 frameshift deletion TC T HiSeq X and Sanger
AutG80155NAA15 4 140264104 frameshift deletion AAC A HiSeq X and Sanger
AutG23469PHF3 6 64413518 frameshift deletion CACAG C HiSeq X and Sanger
KMT2C 7 151949720 frameshift deletion TA T HiSeq X and Sanger
AutG51322WAC 10 28903528 frameshift deletion TCA T HiSeq X and Sanger
AutG51111SUV420H1 11 67926063 frameshift deletion AGGAGCTGGCTGCAGCTGTTCACCACTGTCGGGGCAAGGTTCCGTCACACTGCTTTTATAGCCATTCAACGTATTTG A HiSeq X and Sanger
KMT2A 11 118371708 frameshift deletion AG A HiSeq X and Sanger
KMT2A 11 118374300 frameshift deletion CTG C HiSeq X and Sanger
AutG4849CNOT3 19 54653359 frameshift deletion CAG C HiSeq X and Sanger
AutG23394ADNP 20 49510211 frameshift deletion TTGAC T HiSeq X and Sanger
AutG1654DDX3X X 41202564 frameshift deletion AT A HiSeq X and Sanger
AutG65109UPF3B X 118971853 frameshift deletion CTTTT C HiSeq X and Sanger
AutG4204MECP2 X 153296070 frameshift deletion GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT G HiSeq X and Sanger
AutG5079PAX5 9 37020767 frameshift insertion A AC HiSeq X and Sanger
AutG22982DIP2C 10 412272 frameshift insertion G GCA HiSeq X and Sanger
AutG57680CHD8 14 21861804 frameshift insertion G GT HiSeq X and Sanger
AutG85358SHANK3 22 51160792 frameshift insertion T TG HiSeq X and Sanger
AutG7403KDM6A X 44938511 frameshift insertion C CT HiSeq X and Sanger
AutG4204MECP2 X 153296591 frameshift insertion C CG HiSeq X and Sanger
AutG55870ASH1L 1 155324287 stopgain G A HiSeq X and Sanger
AutG57492ARID1B 6 157150546 stopgain C T HiSeq X and Sanger
AutG254048UBN2 7 138958061 stopgain C T HiSeq X and Sanger
AutG5728PTEN 10 89692960 stopgain C T HiSeq X and Sanger
AutG22941SHANK2 11 70336410 stopgain G A HiSeq X and Sanger
AutG6601SMARCC2 12 56567574 stopgain G A HiSeq X and Sanger
AutG9969MED13 17 60088343 stopgain G A HiSeq X and Sanger
AutG80816ASXL3 18 31324717 stopgain C T HiSeq X and Sanger
AutG23152CIC 19 42777516 stopgain C T HiSeq X and Sanger
AutG23001WDFY3 4 85605093 AC A HiSeq X and Sanger
AutG57680CHD8 14 21865979 A T HiSeq X and Sanger
AutG85358SHANK3 22 51153475 G A HiSeq X and Sanger
AutG7403KDM6A X 44896898 G A HiSeq X and Sanger

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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