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
NFIA	1	61818236	C	T	NM_001145511	0.0311	neutral	0	0	0
CHD5	1	6191718	G	A	NM_015557	0.9601	deleterious	0	1	0.986
INADL	1	62582847	C	G	NM_176877	0.2128	neutral	0.19	0.573	0.161
DOCK7	1	62959980	C	T	NM_001272000	0.1859	neutral	0	0.227	0.024
FOXD3	1	63789333	A	T	NM_012183	0.9947	deleterious	0	0.999	0.978
EFCAB7	1	64011657	A	G	NM_032437	0.9719	deleterious	0	1	0.998
ACOT7	1	6420658	T	C	NM_181865	0.0017	neutral	0.2	0	0
CACHD1	1	65139072	T	G	NM_001293274	0.0265	neutral	0	0	0
ZBTB48	1	6642301	G	A	NM_001278647	0.5478	deleterious	0	0	0
SGIP1	1	67154953	G	A	NM_001308203	0.2047	neutral	0	0	0
TCTEX1D1	1	67242971	G	A	NM_152665	0.7477	deleterious	0.01	0.335	0.302
LRRC40	1	70614246	T	A	NM_017768	0.7601	deleterious	0.03	0.572	0.309
ASB17	1	76387833	C	T	NM_080868	0.0083	neutral	0	0.993	0.956
USP33	1	78163012	C	T	NM_201624	0.0906	neutral	0	0	0
ADGRL4	1	79392717	C	T	NM_022159	0.0455	neutral	0	0.004	0.027
RERE	1	8418823	C	T	NM_001042681	0.8377	deleterious	0	0	0
RERE	1	8421838	C	A	NM_001042682	0.1686	neutral	0	0	0
ZNHIT6	1	86173504	T	A	NM_001170670	0.0927	neutral	0	0.994	0.81
CLCA4	1	87043692	G	A	NM_012128	0.2126	neutral	0.3	0.038	0.01
ENO1	1	8931983	G	A	NM_001428	0.9988	deleterious	0.02	0.482	0.371

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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