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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
MYOCD	17	12656157	G	T	NM_001146312	0.9984	deleterious	0	1	1
MYO1C	17	1380804	G	C	NM_033375	0.4755	neutral	0	0	0
INPP5K	17	1411432	C	T	NM_001135642	0.0123	neutral	0	0	0
TEKT3	17	15207450	C	G	NM_031898	0.7957	deleterious	0	0.596	0.409
TEKT3	17	15212030	G	A	NM_031898	0.9836	deleterious	0	1	1
PRPF8	17	1561966	G	A	NM_006445	0.9927	deleterious	0	1	0.999
TLCD2	17	1611428	C	A	NM_001164407	0.6577	deleterious	1	0	0
WDR81	17	1636104	G	A	NM_001163809	0.6893	deleterious	0	0	0
WDR81	17	1636946	G	A	NM_001163809	0.0494	neutral	0	0	0
WDR81	17	1637187	C	G	NM_001163809	0.9679	deleterious	0	0	0
RAI1	17	17697926	C	T	NM_030665	0.8161	deleterious	0	0.999	0.996
RAI1	17	17698609	G	A	NM_030665	0.4749	deleterious	0	0	0
MYO15A	17	18039050	T	C	NM_016239	0.9305	deleterious	0	0	0
MYO15A	17	18047280	A	G	NM_016239	0.8078	deleterious	0	0	0
LLGL1	17	18140835	C	T	NM_004140	0.002	neutral	0.23	0.001	0.002
LLGL1	17	18145552	C	A	NM_004140	0.0049	neutral	0.54	0.483	0.113
FLII	17	18148534	C	T	NM_001256265	0.1282	neutral	0	0	0
FLII	17	18151881	G	C	NM_001256265	0.0393	neutral	0	0	0
FLII	17	18152174	C	T	NM_001256265	0.4196	neutral	0	0	0
SMCR8	17	18220895	C	T	NM_144775	0.0406	neutral	0.52	0	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