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
ELK1	X	47497356	C	T	NM_001114123	0.1279	neutral	0	0.001	0
WDR45	X	48935752	C	G	NM_001029896	0.2242	neutral	0	0.924	0.241
PRICKLE3	X	49032285	G	A	NM_001307979	0.0515	neutral	0	0	0
PRICKLE3	X	49034380	C	T	NM_001307979	0.1997	neutral	0	0	0
CCDC22	X	49105278	A	C	NM_014008	0.0074	neutral	0	0	0
CCDC22	X	49105970	G	A	NM_014008	0.9232	deleterious	0	1	1
PPP1R3F	X	49142473	G	A	NM_033215	0.0823	neutral	0.07	0.155	0.015
CLCN5	X	49834668	C	T	NM_001127898	0.831	deleterious	0	1	0.996
CCNB3	X	50085212	G	T	NM_033031	0.938	deleterious	0	0.99	0.928
IQSEC2	X	53268427	C	T	NM_001111125	0.6895	deleterious	0	1	0.983
PHF8	X	54037669	G	A	NM_001184897	0.0974	neutral	0	1	0.999
FGD1	X	54476713	G	T	NM_004463	0.3417	neutral	1	0.041	0.055
TRO	X	54949846	C	T	NM_001039705	0.024	neutral	0	0.235	0.043
TRO	X	54956008	G	A	NM_001271183	0.0076	neutral	0	0	0
PFKFB1	X	54978349	G	A	NM_001271805	0.6017	deleterious	0	1	0.986
USP51	X	55513637	G	A	NM_201286	0.9718	deleterious	0	1	0.999
FAAH2	X	57313299	T	G	NM_174912	0.0993	neutral	0.15	0.977	0.282
EDA	X	68836277	T	A	NM_001005609	0.9876	deleterious	0	1	0.988
DGAT2L6	X	69421748	C	T	NM_198512	0.6812	deleterious	1	0.098	0.124
MED12	X	70349234	G	A	NM_005120	0.5537	deleterious	0	0.998	0.91

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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