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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
ZMYM4	1	35847032	G	A	NM_005095	0.1416	neutral	0.23	0.034	0.053
ZMYM4	1	35852825	A	T	NM_005095	0.58	deleterious	0.18	0.425	0.451
NCDN	1	36026645	C	T	NM_001014841	0.0399	neutral	0	0	0
AGO4	1	36282630	G	T	NM_017629	0.9317	deleterious	0.35	0	0
AGO4	1	36306838	G	T	NM_017629	0.926	deleterious	0.18	0.06	0.038
AGO4	1	36307019	C	T	NM_017629	0.9944	deleterious	0.01	0.999	0.901
AGO1	1	36359358	G	T	NM_001317123	0.987	deleterious	0	0	0
AGO1	1	36367118	C	T	NM_001317123	0.643	deleterious	0	0	0
AGO3	1	36474610	G	A	NM_024852	0.9998	deleterious	0	1	1
ADPRHL2	1	36557256	T	C	NM_017825	0.995	deleterious	0.04	1	1
THRAP3	1	36759462	A	G	NM_005119	0.7166	deleterious	0.44	0.65	0.421
DNALI1	1	38023331	A	G	NM_003462	0.3708	neutral	0.03	0	0
GNL2	1	38047837	C	T	NM_013285	0.9942	deleterious	0.03	0.999	0.917
C1orf174	1	3806547	C	T	NM_207356	0.4511	neutral	0.13	0.996	0.854
MACF1	1	39784265	C	T	NM_012090	0.3202	neutral	0	0	0
MACF1	1	39789893	A	G	NM_012090	0.0853	neutral	0	0	0
ZFP69	1	40961433	A	G	NM_198494	0.2552	neutral	0.77	0.955	0.677
GUCA2A	1	42629116	G	A	NM_033553	0.2221	neutral	0.01	0.922	0.627
CFAP57	1	43687928	G	A	NM_001195831	0.1263	neutral	0	0	0
PTPRF	1	44056693	A	C	NM_002840	0.998	deleterious	0.08	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