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
KIRREL3	11	126343313	C	T	NM_001161707	0.8623	deleterious	0	0.994	0.799
MUC5B	11	1265831	T	C	NM_002458	0.0003	neutral	0	0	0
MUC5B	11	1269758	C	T	NM_002458	0.0265	neutral	0	0	0
TEAD1	11	12785933	C	T	NM_021961	0.8201	deleterious	0	0	0
ETS1	11	128442976	G	A	NM_001143820	0.0175	neutral	0.51	0	0
ARHGAP32	11	128839782	G	A	NM_014715	0.704	deleterious	0	0	0
ST14	11	130069939	C	G	NM_021978	0.0241	neutral	0.29	0.008	0.019
SNX19	11	130775881	C	T	NM_001301089	0.0032	neutral	0	0	0
IGSF9B	11	133795695	T	A	NM_001277285	0.7712	deleterious	0	0	0
IGSF9B	11	133805548	G	A	NM_001277285	0.7895	deleterious	0	0	0
NCAPD3	11	134072722	A	G	NM_015261	0.005	neutral	0	0	0
KRTAP5-1	11	1606038	A	G	NM_001005922	0.0956	neutral	0.03	0	0.001
PLEKHA7	11	16863104	A	C	NM_175058	0.1597	neutral	0.53	0.007	0.009
PIK3C2A	11	17139181	T	C	NM_002645	0.1356	neutral	0.75	0	0
NUCB2	11	17333437	T	C	NM_005013	0.5742	deleterious	0	0.2	0.069
KCNC1	11	17793530	G	A	NM_001112741	0.6134	deleterious	0.65	0.552	0.26
MRGPRX4	11	18195609	C	T	NM_054032	0.7968	deleterious	0	1	0.999
HPS5	11	18313160	T	C	NM_007216	0.0034	neutral	0	0	0
GTF2H1	11	18380128	G	A	NM_001142307	0.0609	neutral	0	0	0
UEVLD	11	18591900	C	T	NM_001261385	0.0421	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