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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 Symbol	Chr	Position	refNT	altNT	transcript	iFish Probability	iFish Prediction	SIFT	Polyhen2_HDIV	Polyhen2_HVAR
PPP2R5D	6	42975009	G	A	NM_180976	0.4696	neutral	0	0	0
PPP2R5D	6	42977066	G	A	NM_001270476	0.4696	neutral	0	0	0
PPP2R5D	6	42978887	A	G	NM_001270476	0.4696	neutral	0	0	0
CUL7	6	43011218	G	A	NM_014780	0.1183	neutral	0.05	0.001	0.008
CUL7	6	43014022	G	A	NM_014780	0.1183	neutral	0.01	0.011	0.063
PTK7	6	43099768	G	A	NM_002821	0.6867	deleterious	0	0.995	0.909
PTK7	6	43109472	G	A	NM_152881	0.2916	neutral	0	0.998	0.951
CUL9	6	43191842	G	A	NM_015089	0.2007	neutral	0.2	0.007	0.004
SLC22A7	6	43269430	G	T	NM_006672	0.9841	deleterious	0	0.998	0.978
ZNF318	6	43309923	C	A	NM_014345	0.9287	deleterious	0	1	0.999
POLR1C	6	43487568	G	A	NM_203290	0.9711	deleterious	0	0.982	0.593
XPO5	6	43492367	T	C	NM_020750	0.7446	deleterious	0.25	0.958	0.477
POLH	6	43582176	C	A	NM_001291969	0.9524	deleterious	0	0	0
SLC29A1	6	44201210	G	A	NM_001078175	0.0198	neutral	0	0	0
SLC35B2	6	44224229	C	G	NM_001286511	0.0013	neutral	0	0	0
SUPT3H	6	44971489	C	G	NM_003599	0.1501	neutral	0	0	0
RUNX2	6	45459840	G	A	NM_001278478	0.0865	neutral	0	0	0
PLA2G7	6	46684253	G	A	NM_001168357	0.8577	deleterious	0	0	0
CRISP2	6	49663567	A	G	NM_001142407	0.8984	deleterious	0	0	0
PKHD1	6	51618094	A	G	NM_138694	0.9919	deleterious	0	1	0.999

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Simple Query:

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

AutismKB 2.0

View Variant Prediction

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics