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
TEX15	8	30702135	C	T	NM_031271	0.0218	neutral	0	0.004	0.006
CSMD1	8	3253832	C	T	NM_033225	0.7149	deleterious	0	0	0
NRG1	8	32617875	C	G	NM_001159996	0.745	deleterious	0	0.939	0.758
CSMD1	8	3265577	C	T	NM_033225	0.0409	neutral	0	0	0
UNC5D	8	35616983	G	A	NM_080872	0.9012	deleterious	0	0.999	0.996
PROSC	8	37623828	C	A	NM_007198	0.997	deleterious	0	0.999	1
ASH2L	8	37993231	G	C	NM_001282272	0.0171	neutral	0	0	0
ADAM2	8	39645715	T	C	NM_001278113	0.1951	neutral	0	0.997	0.972
PLAT	8	42042618	G	C	NM_033011	0.4414	neutral	0	0.999	0.986
MCM4	8	48874628	T	C	NM_005914	0.8672	deleterious	0.32	0	0
MCM4	8	48883381	G	C	NM_005914	0.3055	neutral	0.02	0	0
SNTG1	8	51314822	T	C	NM_001287813	0.337	neutral	0	0	0
SNTG1	8	51705253	T	A	NM_001287814	0.097	neutral	0	0	0
OPRK1	8	54142225	G	T	NM_001282904	0.2319	neutral	0	0	0
CHD7	8	61774804	G	A	NM_017780	0.9801	deleterious	0	0.997	0.968
MCPH1	8	6272346	A	G	NM_001172574	0.9146	deleterious	0	1	0.999
AGPAT5	8	6605326	G	A	NM_018361	0.4875	neutral	0.38	0.017	0.011
ARMC1	8	66534524	C	A	NM_018120	0.1103	neutral	0.07	0.07	0.024
TRIM55	8	67067937	C	T	NM_033058	0.0066	neutral	0	0.741	0.344
CSPP1	8	68084781	A	C	NM_001291339	0.0779	neutral	0	0	0

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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