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
MUC4	3	195512768	T	A	NM_018406	0.0012	neutral	0	0	0
MUC4	3	195513364	C	T	NM_018406	0.0099	neutral	0	0	0
MUC4	3	195515198	C	G	NM_018406	0.0064	neutral	0	0	0
MUC4	3	195515997	G	T	NM_018406	0.0159	neutral	0	0	0
WDR53	3	196287884	A	G	NM_182627	0.7007	deleterious	0.01	0.997	0.959
LRCH3	3	197562676	C	T	NM_032773	0.9817	deleterious	0.01	1	0.987
TOP2B	3	25671897	G	A	NM_001068	0.9882	deleterious	0	0.618	0.453
ZNF860	3	32030783	T	C	NM_001137674	0.0136	neutral	0	0.208	0.033
CLASP2	3	33558580	C	T	NM_001207044	0.6494	deleterious	0	0.043	0.04
PDCD6IP	3	33868145	C	A	NM_001256192	0.024	neutral	0	0.865	0.824
DCLK3	3	36759633	C	T	NM_033403	0.9181	deleterious	0	1	0.998
MLH1	3	37081770	A	C	NM_001167618	0.9197	deleterious	0	0	0
ITGA9	3	37785454	G	A	NM_002207	0.0567	neutral	0.09	0.947	0.671
PLCD1	3	38051211	G	A	NM_006225	0.6798	deleterious	0.22	0.998	0.93
DLEC1	3	38101247	A	G	NM_007335	0.0495	neutral	0.01	0.991	0.813
DLEC1	3	38105382	C	A	NM_007335	0.0718	neutral	0.6	0.996	0.894
CHL1	3	386367	C	G	NM_001253387	0.0159	neutral	0	0.233	0.113
XIRP1	3	39230164	C	T	NM_001198621	0.9427	deleterious	0	1	0.999
CX3CR1	3	39307946	C	G	NM_001171171	0.0324	neutral	0	0	0
MYRIP	3	40085652	C	T	NM_001284425	0.0342	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