View Variant Prediction

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
DHX57	2	39065068	T	C	NM_198963	0.2942	neutral	0	0.291	0.155
ARHGEF33	2	39184185	A	G	NM_001145451	0.2792	neutral	0.06	0	0
LRPPRC	2	44184566	G	A	NM_133259	0.171	neutral	0.36	0.017	0.003
SRBD1	2	45778322	T	A	NM_018079	0.5763	deleterious	0	0.994	0.795
MCFD2	2	47136241	C	T	NM_001171506	0.051	neutral	0.45	0	0
MSH2	2	47672716	T	A	NM_001258281	0.4028	neutral	0	1	0.988
NRXN1	2	50318536	C	T	NM_004801	0.0458	neutral	0	0	0
NRXN1	2	50733692	C	T	NM_004801	0.5914	deleterious	0	0	0
NRXN1	2	50765412	G	T	NM_004801	0.5607	deleterious	0	0	0
NRXN1	2	50850511	T	G	NM_004801	0.8128	deleterious	0	0	0
NRXN1	2	51254825	G	T	NM_001135659	0.2804	neutral	0	0	0
NRXN1	2	51255348	C	G	NM_001135659	0.5385	deleterious	0	0	0
PSME4	2	54114533	G	A	NM_014614	0.036	neutral	0.31	0.007	0.008
PSME4	2	54135923	A	C	NM_014614	0.6628	deleterious	0.33	0.954	0.653
SPTBN1	2	54858514	G	C	NM_178313	0.3097	neutral	0.12	0.188	0.436
CLHC1	2	55436920	T	G	NM_152385	0.021	neutral	0.79	0	0
PPP4R3B	2	55808728	G	C	NM_001122964	0.6634	deleterious	0	1	0.999
PPP4R3B	2	55825640	G	C	NM_001122964	0.2803	neutral	0	0.982	0.909
BCL11A	2	60773348	C	A	NM_018014	0.9732	deleterious	0	1	1
BCL11A	2	60773435	G	A	NM_018014	0.6801	deleterious	0	0.788	0.328

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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