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
ANKRD17	4	74026943	C	T	NM_001286771	0.0863	neutral	0	0	0
AFP	4	74318320	C	T	NM_001134	0.0805	neutral	0	0.994	0.805
RASSF6	4	74447930	T	C	NM_001270392	0.1254	neutral	0	1	0.999
RASSF6	4	74450943	C	T	NM_001270392	0.0064	neutral	0	0.022	0.007
G3BP2	4	76580350	A	G	NM_012297	0.9649	deleterious	0	0.883	0.439
PPEF2	4	76812814	G	T	NM_006239	0.3768	neutral	0.35	0.868	0.312
SCARB2	4	77100764	A	G	NM_005506	0.7276	deleterious	0.19	0.749	0.463
CCNI	4	77969491	G	A	NM_006835	0.1277	neutral	0.03	0.528	0.044
AFAP1	4	7840289	C	T	NM_001134647	0.0742	neutral	0	1	1
FRAS1	4	79353580	G	A	NM_001166133	0.0689	neutral	0	0.002	0.001
ANTXR2	4	80954694	C	T	NM_001286780	0.1046	neutral	0	0	0
THAP9	4	83839760	C	A	NM_024672	0.2814	neutral	0.19	0.536	0.272
ACOX3	4	8401309	C	T	NM_001101667	0.2768	neutral	0	0.416	0.093
ACOX3	4	8412052	C	T	NM_001101667	0.8804	deleterious	0	1	0.999
HELQ	4	84342874	C	T	NM_001297757	0.0035	neutral	0	0	0
TRMT44	4	8467199	C	T	NM_152544	0.9108	deleterious	0	0.999	0.772
WDFY3	4	85609385	C	T	NM_014991	0.2294	neutral	0	0.059	0.052
WDFY3	4	85742365	T	A	NM_014991	0.9134	deleterious	0	1	0.947
CPZ	4	8613762	G	T	NM_001014448	0.0953	neutral	0	0	0
CPZ	4	8620162	C	T	NM_001014448	0.0953	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