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
MUC6	11	1018420	T	G	NM_005961	0.009	neutral	0.19	0.851	0.104
MMP8	11	102593283	G	A	NM_001304441	0.2405	neutral	0	0	0
DYNC2H1	11	103024187	A	C	NM_001080463	0.949	deleterious	0	0.986	0.94
DYNC2H1	11	103175330	A	G	NM_001377	0.949	deleterious	0	0.688	0.62
CWF19L2	11	107207297	G	A	NM_152434	0.9979	deleterious	0.01	0.999	0.994
ELMOD1	11	107501449	A	C	NM_001308018	0.1079	neutral	0	0	0
MUC2	11	1075819	C	T	NM_002457	0.0078	neutral	0	0.047	0.058
CTR9	11	10794110	C	T	NM_014633	0.4977	neutral	0.05	1	0.964
EIF4G2	11	10821664	T	C	NM_001042559	0.4374	neutral	0	0	0
EXPH5	11	108381396	C	A	NM_001144765	0.0725	neutral	0	0	0
EXPH5	11	108384403	T	C	NM_001144765	0.0048	neutral	0	0	0
MUC2	11	1090971	C	T	NM_002457	0.0082	neutral	0	0.001	0.001
MUC2	11	1093562	C	G	NM_002457	0.0016	neutral	0	0.458	0.292
MUC2	11	1094679	G	A	NM_002457	0.0171	neutral	0	0	0
MUC2	11	1101090	G	A	NM_002457	0.0016	neutral	0	0	0
MUC2	11	1104228	G	A	NM_002457	0.0126	neutral	0	0	0
PPP2R1B	11	111626054	G	A	NM_001177563	0.539	deleterious	0	1	0.998
PPP2R1B	11	111630612	C	G	NM_181700	0.5916	deleterious	0	0.997	0.842
ANKK1	11	113270025	G	A	NM_178510	0.2213	neutral	0.01	1	0.99
HTR3A	11	113852013	C	T	NM_001161772	0.6795	deleterious	0	1	1

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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