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
EPHB3	3	184294872	A	T	NM_004443	0.8102	deleterious	0	0.073	0.069
VPS8	3	184632833	A	G	NM_015303	0.9673	deleterious	0	1	0.997
EHHADH	3	184910031	G	A	NM_001166415	0.0727	neutral	0	0	0
EHHADH	3	184910078	G	A	NM_001166415	0.08	neutral	0	0	0
TMEM41A	3	185209431	A	G	NM_080652	0.2869	neutral	0.09	0	0.001
LIPH	3	185229388	T	C	NM_139248	0.8186	deleterious	0.04	0.382	0.206
DGKG	3	186006628	C	A	NM_001080744	0.0591	neutral	0.53	0	0.001
CRYGS	3	186256586	G	A	NM_017541	0.9223	deleterious	0.01	0.731	0.522
FETUB	3	186369071	G	C	NM_001308079	0.1168	neutral	0	0	0
RTP2	3	187419873	T	A	NM_001004312	0.2964	neutral	0.05	0.995	0.85
TP63	3	189607152	C	A	NM_001114980	0.227	neutral	0	0.971	0.856
P3H2	3	189838228	G	A	NM_018192	0.059	neutral	0	0.198	0.059
ATP13A4	3	193185128	A	G	NM_032279	0.1752	neutral	0	0.281	0.182
HES1	3	193854213	C	T	NM_005524	0.8146	deleterious	0	1	0.987
KCNH8	3	19491606	C	T	NM_144633	0.992	deleterious	0	0.988	0.919
ACAP2	3	195063205	G	A	NM_012287	0.3257	neutral	0.71	0.343	0.216
MUC20	3	195456546	G	C	NM_001291833	0.1354	neutral	0	0	0
MUC4	3	195511844	T	G	NM_018406	0.0683	neutral	0	0	0
MUC4	3	195512399	G	T	NM_018406	0.0218	neutral	0	0	0
MUC4	3	195512542	G	A	NM_018406	0.0163	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