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
CPZ	4	8620216	C	T	NM_001014448	0.0953	neutral	0	0	0
PTPN13	4	87705622	C	G	NM_080684	0.1462	neutral	0.09	0.006	0.01
PTPN13	4	87705691	C	A	NM_080684	0.0172	neutral	0.54	0.008	0.015
SPARCL1	4	88412805	G	A	NM_001291976	0.0081	neutral	0	0	0
GAK	4	898481	G	A	NM_005255	0.2725	neutral	0	0.997	0.851
TIGD2	4	90034383	G	T	NM_145715	0.9711	deleterious	0.02	1	1
GPRIN3	4	90170534	C	G	NM_198281	0.0573	neutral	0	0.221	0.187
MMRN1	4	90874301	C	T	NM_007351	0.7103	deleterious	0	1	1
GRID2	4	94377044	C	G	NM_001286838	0.2351	neutral	0	0	0
HPGDS	4	95220672	C	T	NM_014485	0.0001	neutral	1	0	0
HPGDS	4	95220705	T	A	NM_014485	0.0369	neutral	0.19	0.002	0.002
SLC2A9	4	9922187	G	A	NM_001001290	0.1007	neutral	0	0.301	0.157
EIF4E	4	99812415	T	A	NM_001130679	0.9944	deleterious	0	0.96	0.879
PAM	5	102295584	C	G	NM_000919	0.995	deleterious	0	1	1
FAM173B	5	10236693	A	G	NM_001258388	0.152	neutral	0.33	0.102	0.054
PPIP5K2	5	102537298	C	T	NM_015216	0.0494	neutral	0	0	0.001
WDR36	5	110436345	A	C	NM_139281	0.9924	deleterious	0	1	0.976
YTHDC2	5	112899557	C	T	NM_022828	0.6882	deleterious	0.13	0.62	0.53
CTNND2	5	11411650	T	G	NM_001332	0.9636	deleterious	0	0.799	0.197
TICAM2	5	114916409	C	T	NM_021649	0.2639	neutral	0.21	1	0.978

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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