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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
TRRAP	7	98506430	G	A	NM_001244580	0.9956	deleterious	0	0.968	0.796
TRRAP	7	98550994	G	A	NM_003496	0.6471	deleterious	0	1	1
ZKSCAN5	7	99123456	A	G	NM_014569	0.0017	neutral	0	0	0
ZKSCAN5	7	99128899	T	C	NM_014569	0.0408	neutral	0	0	0
ZSCAN25	7	99217569	G	A	NM_145115	0.2507	neutral	0	0.013	0.025
CYP3A5	7	99260477	A	G	NM_001291829	0.0673	neutral	0	0	0
CYP3A7	7	99305541	C	G	NM_000765	0.0639	neutral	0	0	0
CYP3A43	7	99457566	G	A	NM_001278921	0.0087	neutral	0	0	0
AZGP1	7	99573589	C	T	NM_001185	0.0226	neutral	0	0.036	0.014
MCM7	7	99695873	G	A	NM_005916	0.9966	deleterious	0.01	1	0.958
AP4M1	7	99702946	C	T	NM_004722	0.8296	deleterious	0	0.967	0.598
TAF6	7	99711308	T	C	NM_005641	0.26	neutral	0.45	0	0
TAF6	7	99711376	T	C	NM_001190415	0.2797	neutral	0	0.009	0.013
C7orf43	7	99755468	T	G	NM_018275	0.3964	neutral	0.24	0.999	0.991
STAG3	7	99802722	T	C	NM_001282716	0.9733	deleterious	0	0	0
PVRIG	7	99817815	G	A	NM_024070	0.2693	neutral	0.04	0.999	0.999
VPS13B	8	100479648	C	T	NM_017890	0.9061	deleterious	0	0.999	0.994
VPS13B	8	100791009	G	A	NM_152564	0.0804	neutral	0.16	0.068	0.012
VPS13B	8	100832259	A	G	NM_152564	0.3438	neutral	0	0.998	0.994
FBXO43	8	101153250	G	C	NM_001029860	0.0577	neutral	0.4	0.002	0.002

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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