AutismKB 2.0

View de novo Variants from PubMed ID: 27525107


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
AutG6521SLC4A1 17 42335477 exonic G A Sanger sequencing 0.9884 deleterious
AutG80267EDEM3 1 184706797 exonic G A Sanger sequencing
AutG55197RPRD1A 18 33611043 exonic C A Sanger sequencing 0.7899 deleterious
AutG3482IGF2R 6 160499238 exonic G A Sanger sequencing
AutG23524SRRM2 16 2813215 exonic C T Sanger sequencing 0.1135 neutral
AutG140699C20orf132 20 35788537 exonic T G Sanger sequencing
AutG9904RBM19 12 114362501 splicing C T Sanger sequencing
AutG284252KCTD1 18 24060769 intronic T C Sanger sequencing
AutG1977EIF4E 4 99812415 exonic T A Sanger sequencing 0.9944 deleterious
AutG23581CASP14 19 15166323 exonic T C Sanger sequencing
AutG54790TET2 4 106157491 exonic G A Sanger sequencing 0.0824 neutral
AutG8853ASAP2 2 9463296 exonic A T Sanger sequencing 0.322 neutral
AutG284391ZNF844 19 12185210 exonic G A Sanger sequencing
AutG9690UBE3C 7 157041159 exonic C T Sanger sequencing 0.9207 deleterious
AutG150864FAM117B 2 203560677 exonic T C Sanger sequencing
AutG56109PCDHGA6 5 140754841 exonic A G Sanger sequencing
AutG163882CNST 1 246810623 exonic C T Sanger sequencing 0.9785 deleterious
AutG147945NLRP4 19 56370219 exonic A C Sanger sequencing 0.2426 neutral
AutG57464FAM40B 7 129125422 exonic A T Sanger sequencing
AutG6489ST8SIA1 12 22441355 intronic G A Sanger sequencing
AutG6489ST8SIA1 12 22441359 intronic G A Sanger sequencing
AutG339291LRRC30 18 7231443 exonic G T Sanger sequencing 0.9725 deleterious
AutG55245UQCC 20 33969789 exonic T C Sanger sequencing
AutG5413SEPT5 22 19707757 exonic G A Sanger sequencing 0.2954 neutral
DESI1 22 42003310 exonic C A Sanger sequencing 0.5152 deleterious
AutG23077MYCBP2 13 77831901 exonic C T Sanger sequencing 0.0379 neutral
AutG257364SNX33 15 75942562 exonic C T Sanger sequencing
AutG63978PRDM14 8 70964491 exonic C A Sanger sequencing 0.9986 deleterious
AutG9204ZMYM6 1 35453426 exonic C T Sanger sequencing 0.2526 neutral
AutG285025CCDC141 2 179783568 exonic C T Sanger sequencing 0.0095 neutral
AutG8500PPFIA1 11 70194448 exonic G A Sanger sequencing
AutG57092PCNP 3 101316414 intergenic C T Sanger sequencing
AutG57092PCNP 3 101316415 intergenic T G Sanger sequencing
AutG140803TRPM6 9 77353334 exonic A T Sanger sequencing
AutG64319FBRS 16 30676715 exonic A C Sanger sequencing 0.5129 deleterious
AutG2516NR5A1 9 127262722 exonic C T Sanger sequencing 0.6208 deleterious
AutG9353SLIT2 4 20490587 exonic C T Sanger sequencing
AutG23114NFASC 1 204955245 intronic A T Sanger sequencing
AutG259266ASPM 1 197111815 exonic T G Sanger sequencing 0.0539 neutral
AutG388536ZNF790 19 37310285 exonic G A Sanger sequencing
AutG81631MAP1LC3B 16 87436582 exonic A G Sanger sequencing 0.4642 deleterious
AutG116983ACAP3 1 1235431 exonic G A Sanger sequencing
AutG9726ZNF646 16 31091869 exonic G A Sanger sequencing
AutG3720JARID2 6 15504762 exonic G A Sanger sequencing 0.0832 neutral
AutG9904RBM19 12 114352870 exonic C T Sanger sequencing 0.029 neutral
AutG23066CAND2 3 12861637 exonic G A Sanger sequencing
AutG22850ADNP2 18 77895382 exonic T G Sanger sequencing 0.9634 deleterious
AutG10648SCGB1D1 11 61959705 exonic C T Sanger sequencing 0.0012 neutral
AutG151ADRA2B 2 96780980 exonic C T Sanger sequencing
AutG6897TARS 5 33458697 exonic A G Sanger sequencing
AutG5218CDK14 7 90355990 exonic G A Sanger sequencing 0.9166 deleterious
AutG79608RIC3 11 8148296 exonic T C Sanger sequencing 0.05 neutral
AutG10015PDCD6IP 3 33868145 exonic C A Sanger sequencing 0.024 neutral
AutG11085ADAM30 1 120438252 exonic A T Sanger sequencing
AutG199713NLRP7 19 55450865 exonic T C Sanger sequencing 0.3543 neutral
AutG9256BZRAP1 17 56404969 exonic C A Sanger sequencing
AutG85476GFM1 3 158380348 intronic A T Sanger sequencing
AutG5727PTCH1 9 98221922 exonic G A Sanger sequencing
AutG57713SFMBT2 10 7213014 exonic G A Sanger sequencing 0.0109 neutral
ARHGEF28 5 73144882 exonic C T Sanger sequencing 0.2981 neutral
AutG642852LOC642852 21 46714389 ncRNA_exonic G T Sanger sequencing
AutG642852LOC642852 21 46714390 ncRNA_exonic A T Sanger sequencing
AutG1016CDH18 5 19473795 exonic C T Sanger sequencing 0.2473 neutral
AutG84687PPP1R9B 17 48213378 exonic C T Sanger sequencing
AutG255057C19orf26 19 1235958 intronic C T Sanger sequencing
AutG1612DAPK1 9 90301541 exonic C T Sanger sequencing 0.0817 neutral
AutG4622MYH4 17 10355401 exonic T C Sanger sequencing 0.9986 deleterious
AutG55214LEPREL1 3 189838228 exonic G A Sanger sequencing
AutG55835CENPJ 13 25486801 exonic G C Sanger sequencing 0.2085 neutral
AutG3714JAG2 14 105617992 exonic G A Sanger sequencing 0.2807 neutral
AutG79623GALNT14 2 31168706 exonic C T Sanger sequencing 0.0342 neutral
AutG10439OLFM1 9 138011670 exonic C T Sanger sequencing
AutG9378NRXN1 2 50733692 exonic C T Sanger sequencing 0.5914 deleterious
AutG4703NEB 2 152424685 exonic T C Sanger sequencing 0.6034 deleterious
AutG8736MYOM1 18 3067506 exonic C T Sanger sequencing
AutG9651PLCH2 1 2434058 intronic C T Sanger sequencing 0.0522 neutral
AutG113146AHNAK2 14 105423832 exonic G A Sanger sequencing 0.4526 neutral
AutG8120AP3B2 15 83348481 exonic C G Sanger sequencing 0.6582 deleterious
AutG9361LONP1 19 5713148 exonic C G Sanger sequencing 0.1468 neutral
AutG22941SHANK2 11 70336411 exonic G A Sanger sequencing
AutG4329ALDH6A1 14 74533566 exonic C G Sanger sequencing 0.931 deleterious
AutG2178FANCE 6 35425695 exonic G A Sanger sequencing
AutG7783ZP2 16 21214376 intronic A T Sanger sequencing
AutG7783ZP2 16 21214377 intronic C T Sanger sequencing
AutG2555GABRA2 4 46258318 intronic A T Sanger sequencing 0.4142 deleterious
AutG6529SLC6A1 3 11067982 exonic T C Sanger sequencing 0.9973 deleterious
AutG23013SPEN 1 16258127 exonic C T Sanger sequencing
AutG1801DPH1 17 1943117 exonic G T Sanger sequencing 0.9801 deleterious
AutG256536TCERG1L 10 132965082 exonic C T Sanger sequencing 0.0169 neutral
AutG5581PRKCE 2 45910260 intronic T C Sanger sequencing
AutG5581PRKCE 2 45910289 intronic T C Sanger sequencing
AutG1767DNAH5 5 13714585 exonic G A Sanger sequencing 0.8673 deleterious
AutG7410VAV2 9 136633668 exonic C T Sanger sequencing 0.9262 deleterious
AutG27020NPTN 15 73862669 exonic G A Sanger sequencing
AutG8697CDC23 5 137524696 exonic G A Sanger sequencing 0.8967 deleterious
AutG51474LIMA1 12 50570945 exonic C G Sanger sequencing 0.3381 neutral
AutG9150CTDP1 18 77464903 exonic C A Sanger sequencing 0.6058 deleterious
AutG80336PABPC1L 20 43545506 exonic G A Sanger sequencing 0.7515 deleterious
AutG64168NECAB1 8 91821724 intronic G A Sanger sequencing
AutG64168NECAB1 8 91821744 intronic T C Sanger sequencing
AutG55917CTTNBP2NL 1 112999487 exonic G A Sanger sequencing 0.9747 deleterious
AutG10509SEMA4B 15 90763059 exonic C T Sanger sequencing 0.0023 neutral
AutG9810RNF40 16 30778067 exonic C T Sanger sequencing
AutG60412EXOC4 7 133689775 exonic A G Sanger sequencing 0.9235 deleterious
AutG112ADCY6 12 49168253 exonic G A Sanger sequencing 0.6341 deleterious
AutG3615IMPDH2 3 49064457 exonic C G Sanger sequencing 0.1613 neutral
AutG3702ITK 5 156679654 exonic G A Sanger sequencing 0.4986 deleterious
AutG11004KIF2C 1 45214051 intronic C G Sanger sequencing
AutG84871AGBL4 1 49899272 intronic A G Sanger sequencing
AutG256435ST6GALNAC3 1 76550237 intronic T C Sanger sequencing
AutG26052DNM3 1 172084189 intronic A G Sanger sequencing
AutG493ATP2B4 1 203596409 intronic A G Sanger sequencing
AutG115019SLC26A9 1 205894856 intronic C T Sanger sequencing
AutG100132987LOC100132987 10 80321645 intergenic C T Sanger sequencing
AutG57698KIAA1598 10 118700511 intronic T C Sanger sequencing
AutG119710C11orf74 11 38289233 intergenic C T Sanger sequencing
AutG81318OR4A5 11 51487490 intergenic C T Sanger sequencing
AutG50507NOX4 11 89159108 intronic A G Sanger sequencing
AutG23329TBC1D30 12 65269243 exonic C T Sanger sequencing 0.002 neutral
LINC00366 13 39193399 intergenic G A Sanger sequencing
AutG283491OR7E156P 13 65747083 intergenic T C Sanger sequencing
AutG5494PPM1A 14 60754950 UTR3 A G Sanger sequencing
AutG27133KCNH5 14 63301375 intronic C T Sanger sequencing
CEP128 14 81413266 intergenic G A Sanger sequencing
AutG23359FAM189A1 15 29718700 intronic C T Sanger sequencing
AutG388135C15orf59 15 74156205 intergenic G C Sanger sequencing
AutG283867LOC283867 16 65609464 ncRNA_intronic C G Sanger sequencing
AutG54386TERF2IP 16 76191098 intergenic C A Sanger sequencing
AutG339230CCDC137 17 79635638 intronic G A Sanger sequencing
LINC00470 18 1794249 intergenic T G Sanger sequencing
AutG64693CTAGE1 18 20266482 intergenic A T Sanger sequencing
AutG643542LOC643542 18 66325763 intergenic G A Sanger sequencing
AutG5178PEG3 19 57322607 UTR3 A C Sanger sequencing
AutG200504GKN2 2 69188286 intergenic T C Sanger sequencing
AutG2274FHL2 2 106076320 intergenic G C Sanger sequencing
AutG7852CXCR4 2 137490484 intergenic T C Sanger sequencing
AutG100144595LOC100144595 2 155332366 intergenic G A Sanger sequencing
AutG11122PTPRT 20 42082225 intergenic C T Sanger sequencing
AutG8202NCOA3 20 46165011 intronic C T Sanger sequencing
AutG57088PLSCR4 3 146107178 intergenic T G Sanger sequencing
AutG29063ZCCHC4 4 25350626 intronic G A Sanger sequencing
AutG27152INTU 4 128637320 intronic A G Sanger sequencing
AutG132430PABPC4L 4 135420890 intergenic G C Sanger sequencing
LINC00499 4 139728418 intergenic G A Sanger sequencing
AutG2993GYPA 4 145357639 intergenic C G Sanger sequencing
AutG2993GYPA 4 145358759 intergenic A T Sanger sequencing
AutG115827RAB3C 5 58156183 intergenic G C Sanger sequencing
AutG57528KCTD16 5 143814440 intronic C A Sanger sequencing
AutG662BNIP1 5 172608287 intergenic G A Sanger sequencing
C6orf228 6 11100341 intronic T C Sanger sequencing
AutG9734HDAC9 7 18885284 intronic A G Sanger sequencing
AutG3751KCND2 7 119973863 intronic G A Sanger sequencing
AutG64478CSMD1 8 5644364 intergenic A T Sanger sequencing
AutG640BLK 8 11420448 intronic C T Sanger sequencing
AutG7486WRN 8 31318573 intergenic G T Sanger sequencing
AutG389763FAM75D1 9 85119714 intergenic T C Sanger sequencing
9 118169892 intergenic C T Sanger sequencing
AutG1788DNMT3A 2 25466800 exonic G A Sanger sequencing 0.3113 neutral
AutG1188CLCNKB 1 16376358 exonic C G Sanger sequencing 0.2456 neutral
AutG9318COPS2 15 49426143 exonic G A Sanger sequencing 0.998 deleterious
AutG1294COL7A1 3 48621941 exonic G A Sanger sequencing 0.329 neutral
AutG79877DCAKD 17 43111636 exonic G T Sanger sequencing
AutG6282S100A11 1 152012714 intergenic G A Sanger sequencing
AutG6282S100A11 1 152012715 intergenic C T Sanger sequencing
AutG57491AHRR 5 422895 exonic C G Sanger sequencing 0.3953 deleterious
AutG7432VIP 6 153075412 exonic T A Sanger sequencing
AutG283710LOC283710 15 31527371 intergenic A C Sanger sequencing
AutG283710LOC283710 15 31527373 intergenic C A Sanger sequencing
AutG4343MOV10 1 113235478 exonic G A Sanger sequencing 0.105 neutral
AutG2104ESRRG 1 217016603 intronic T A Sanger sequencing
AutG4134MAP4 3 47957453 exonic T C Sanger sequencing 0.0103 neutral
AutG6586SLIT3 5 168175351 exonic C A Sanger sequencing
AutG283638KIAA0284 14 105354151 exonic G A Sanger sequencing
AutG9748SLK 10 105768025 exonic C T Sanger sequencing 0.935 deleterious
AutG64101LRRC4 7 127670456 exonic G C Sanger sequencing 0.9764 deleterious
AutG136332LRGUK 7 133842813 exonic A G Sanger sequencing
AutG4076CAPRIN1 11 34107924 exonic C T Sanger sequencing
AutG152138PYDC2 3 191286856 intergenic C T Sanger sequencing
AutG152138PYDC2 3 191286870 intergenic A T Sanger sequencing
HCAR1 12 123213933 exonic G A Sanger sequencing
AutG25790CCDC19 1 159846398 exonic C T Sanger sequencing
AutG6441SFTPD 10 81702258 exonic G A Sanger sequencing 0.6319 deleterious
AutG27131SNX5 20 17923824 exonic T C Sanger sequencing 0.5007 deleterious
AutG83595SOX7 8 10583692 exonic C T Sanger sequencing
AutG7542ZFPL1 11 64852255 exonic G A Sanger sequencing 0.3114 neutral
AutG89796NAV1 1 201687561 exonic C A Sanger sequencing 0.8286 deleterious
AutG57553MICAL3 22 18387403 exonic T C Sanger sequencing 0.9836 deleterious
AutG25879DCAF13 8 104439424 exonic T G Sanger sequencing 0.005 neutral
AutG10319LAMC3 9 133942350 exonic G A Sanger sequencing 0.672 deleterious
AutG23345SYNE1 6 152771947 exonic G A Sanger sequencing 0.3053 neutral
AutG56243KIAA1217 10 24802273 exonic T C Sanger sequencing 0.5963 deleterious
AutG120114FAT3 11 92600180 exonic G A Sanger sequencing 0.5186 deleterious
AutG9515STXBP5L 3 120628487 exonic G A Sanger sequencing 0.0015 neutral
AutG196528ARID2 12 46233500 intronic T A Sanger sequencing
AutG196528ARID2 12 46233502 intronic C A Sanger sequencing
AutG151188ARL6IP6 2 153575211 exonic C G Sanger sequencing 0.0134 neutral
AutG10814CPLX2 5 175261745 intronic C A Sanger sequencing
AutG10814CPLX2 5 175261746 intronic G A Sanger sequencing
AutG100616484MIR4470 8 63043069 intergenic G T Sanger sequencing
AutG100616484MIR4470 8 63043070 intergenic A T Sanger sequencing
AutG29927SEC61A1 3 127786872 exonic G A Sanger sequencing 0.999 deleterious
AutG5467PPARD 6 35389613 exonic C T Sanger sequencing 0.9537 deleterious
AutG50805IRX4 5 2258056 intergenic T G Sanger sequencing
AutG50805IRX4 5 2258057 intergenic C T Sanger sequencing
AutG2632GBE1 3 82014605 intergenic A T Sanger sequencing
AutG2632GBE1 3 82014614 intergenic T A Sanger sequencing
AutG6530SLC6A2 16 55703492 exonic C T Sanger sequencing 0.9316 deleterious
AutG51366UBR5 8 103300396 exonic C T Sanger sequencing
AutG57697FANCM 14 45650888 exonic C T Sanger sequencing 0.0121 neutral
AutG2832NPBWR2 20 62737215 exonic G A Sanger sequencing 0.9034 deleterious
AutG3763KCNJ6 21 39087336 exonic T C Sanger sequencing 0.325 neutral
AutG146754DNAH2 17 7699902 exonic G A Sanger sequencing 0.0658 neutral
AutG375790AGRN 1 981205 exonic T C Sanger sequencing 0.9994 deleterious
AutG339456TMEM52 1 1849366 exonic C T Sanger sequencing
AutG57659ZBTB4 17 7369185 exonic C T Sanger sequencing
AutG158158RASEF 9 85677691 exonic T C Sanger sequencing 0.0628 neutral
AutG5976UPF1 19 18962981 exonic C T Sanger sequencing 0.8804 deleterious
AutG9924PAN2 12 56721172 exonic G A Sanger sequencing 0.9735 deleterious
AutG7844RNF103 2 86849967 exonic G A Sanger sequencing
AutG55661DDX27 20 47850144 exonic C T Sanger sequencing 0.5012 neutral
AutG143098MPP7 10 28394712 intronic G A Sanger sequencing
AutG143098MPP7 10 28394713 intronic G A Sanger sequencing
AutG8906AP1G2 14 24034327 splicing C T Sanger sequencing
AutG26056RAB11FIP5 2 73339563 exonic G A Sanger sequencing 0.918 deleterious
AutG9730VPRBP 3 51457792 exonic T C Sanger sequencing 0.3925 neutral
AutG6514SLC2A2 3 170720420 exonic G A Sanger sequencing 0.1029 neutral
AutG200035NUDT17 1 145589057 splicing T A Sanger sequencing
AutG2117ETV3 1 157094760 exonic G C Sanger sequencing 0.9441 deleterious
AutG10276NET1 10 5498175 exonic G A Sanger sequencing
AutG9810RNF40 16 30778120 exonic C T Sanger sequencing 0.9609 deleterious
AutG2194FASN 17 80046737 exonic C G Sanger sequencing 0.9735 deleterious
AutG5209PFKFB3 10 6263395 exonic C T Sanger sequencing 0.5932 deleterious
AutG321APBA2 15 29346334 exonic G A Sanger sequencing 0.879 deleterious
AutG6830SUPT6H 17 27003318 exonic A G Sanger sequencing 0.2066 neutral
AutG124359CDYL2 16 80667073 exonic G A Sanger sequencing 0.1091 neutral
AutG6878TAF6 7 99711376 exonic T C Sanger sequencing 0.2797 neutral
AutG79048SECISBP2 9 91964798 exonic C G Sanger sequencing 0.1125 neutral
12 53708082 exonic C T Sanger sequencing
AutG23378RRP8 11 6622574 exonic C T Sanger sequencing 0.6662 deleterious
AutG54762GRAMD1C 3 113656968 exonic C T Sanger sequencing 0.0888 neutral
AutG134391GPR151 5 145905716 intergenic C A Sanger sequencing
AutG134391GPR151 5 145905719 intergenic G A Sanger sequencing
AutG11122PTPRT 20 41385165 exonic G A Sanger sequencing 0.9841 deleterious
AutG124565SLC38A10 17 79225309 exonic C T Sanger sequencing
AutG1427CRYGS 3 186256586 exonic G A Sanger sequencing 0.9223 deleterious
AutG8838WISP3 6 112389528 exonic A G Sanger sequencing 0.2043 neutral
AutG23086EXPH5 11 108384403 exonic T C Sanger sequencing 0.0048 neutral
AutG79913ACTR5 20 37380784 exonic A G Sanger sequencing 0.6204 deleterious
AutG100073347MIMT1 19 57359668 ncRNA_exonic C T Sanger sequencing
AutG100073347MIMT1 19 57359669 ncRNA_exonic G A Sanger sequencing
AutG284ANGPT1 8 108648303 intergenic G T Sanger sequencing
AutG284ANGPT1 8 108648304 intergenic A T Sanger sequencing
AutG51127TRIM17 1 228598833 exonic C T Sanger sequencing
AutG6332SCN7A 2 167284437 exonic G T Sanger sequencing 0.3571 neutral
AutG23580CDC42EP4 17 71281677 exonic G A Sanger sequencing
AutG57705WDFY4 10 50174653 exonic C T Sanger sequencing 0.0047 neutral
AutG6877TAF5 10 105147781 exonic T A Sanger sequencing 0.9991 deleterious
AutG283638KIAA0284 14 105353348 exonic G A Sanger sequencing
AutG9202ZMYM4 1 35852825 exonic A T Sanger sequencing 0.58 deleterious
AutG89872AQP10 1 154296135 exonic C A Sanger sequencing 0.2143 neutral
AutG29933GPR132 14 105554707 intergenic G A Sanger sequencing
AutG29933GPR132 14 105554708 intergenic C G Sanger sequencing
AutG4864NPC1 18 21134914 exonic G A Sanger sequencing 0.0324 neutral
AutG8737RIPK1 6 3083327 exonic C G Sanger sequencing 0.9989 deleterious
AutG23002DAAM1 14 59782064 exonic G A Sanger sequencing 0.9937 deleterious
AutG149111CNIH3 1 224957399 intergenic G A Sanger sequencing
AutG149111CNIH3 1 224957400 intergenic G A Sanger sequencing
AutG79848CSPP1 8 68084781 exonic A C Sanger sequencing 0.0779 neutral
AP5M1 14 57741429 exonic T C Sanger sequencing 0.4782 deleterious
AutG51439FAM8A1 6 17605188 exonic C G Sanger sequencing 0.5219 deleterious
AutG26053AUTS2 7 70255088 exonic C T Sanger sequencing
AutG22997IGSF9B 11 133805548 exonic G A Sanger sequencing 0.7895 deleterious
AutG8367HIST1H4E 6 26204974 exonic C T Sanger sequencing
AutG152273FGD5 3 14862060 exonic A G Sanger sequencing
AutG1107CHD3 17 7803650 exonic C G Sanger sequencing 0.8026 deleterious
AutG1778DYNC1H1 14 102460577 exonic A G Sanger sequencing
AutG23277KIAA0664 17 2595709 exonic G A Sanger sequencing
AutG5738PTGFRN 1 117491968 exonic C T Sanger sequencing
AutG84623KIRREL3 11 126343313 exonic C T Sanger sequencing 0.8623 deleterious
AutG2905GRIN2C 17 72840498 exonic C T Sanger sequencing 0.2541 neutral
AutG9321TRIP11 14 92470327 exonic T - Sanger sequencing
AutG11073TOPBP1 3 133372233 exonic AT - Sanger sequencing
AutG6938TCF12 15 57355957 exonic A - Sanger sequencing
AutG23394ADNP 20 49510213 exonic TGAC - Sanger sequencing
AutG6326SCN2A 2 166245191 exonic C - Sanger sequencing
PER2 2 239171592 exonic CT - Sanger sequencing
AutG23001WDFY3 4 85605095 splicing C - Sanger sequencing
AutG63891RNF123 3 49737159 exonic TCC - Sanger sequencing
AutG22982DIP2C 10 412273 exonic - CA Sanger sequencing
AutG10659CELF2 10 11299713 exonic - A Sanger sequencing
AutG221786FAM200A 7 99145992 exonic T - Sanger sequencing
AutG22997IGSF9B 11 133790094 exonic GGGGCT - Sanger sequencing
AutG6326SCN2A 2 166170550 exonic GCTGAACAGAAGGAAGCTGAATTTCAGCAGAT - Sanger sequencing
AutG159195USP54 10 75294481 exonic - C Sanger sequencing
AutG142686ASB14 3 57321936 exonic AA - Sanger sequencing
AutG55127HEATR1 1 236759213 exonic C - Sanger sequencing
AutG85358SHANK3 22 51160793 exonic - G Sanger sequencing
AutG54464XRN1 3 142139978 exonic - T Sanger sequencing
AutG8831SYNGAP1 6 33406690 exonic - A Sanger sequencing
AutG8831SYNGAP1 6 33406694 exonic CTGGT - Sanger sequencing
AutG9398CD101 1 117554184 exonic C - 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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