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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
LAMC1	1	183086530	T	C	NM_002293	0.5407	deleterious	0.14	0.009	0.01
LAMC1	1	183094556	C	T	NM_002293	0.258	neutral	0	1	1
LAMC2	1	183184672	C	T	NM_005562	0.1275	neutral	0	0.845	0.65
SMG7	1	183502868	C	T	NM_001174061	0.0488	neutral	0	0.063	0.09
TMEM52	1	1849510	G	C	NM_178545	0.9216	deleterious	0.01	0.999	0.996
HMCN1	1	185833720	C	T	NM_031935	0.0529	neutral	0.23	0.978	0.885
TPR	1	186344048	C	T	NM_003292	0.0164	neutral	0	0.001	0.001
C1orf27	1	186368092	A	C	NM_001164246	0.0837	neutral	0	0	0
PAX7	1	18960904	C	T	NM_001135254	0.9139	deleterious	0	0.999	0.996
CFAP74	1	1900192	C	T	NM_001304360	0.0173	neutral	0	0	0
TAS1R2	1	19166809	G	T	NM_152232	0.364	neutral	0.34	0.993	0.957
RGS1	1	192545954	T	C	NM_002922	0.9964	deleterious	0	1	1
UBR4	1	19403354	G	C	NM_020765	0.5125	deleterious	0	0.979	0.982
UBR4	1	19446711	G	A	NM_020765	0.5125	deleterious	0	1	0.982
UBR4	1	19481533	C	T	NM_020765	0.4875	neutral	0	0.998	0.981
UBR4	1	19528292	T	G	NM_020765	0.4875	neutral	0	0.61	0.146
KCNT2	1	196395019	C	G	NM_001287819	0.9714	deleterious	0	0	0
KCNT2	1	196397281	A	G	NM_001287819	0.9613	deleterious	0	0	0
ASPM	1	197073712	A	G	NM_018136	0.0196	neutral	0.34	0	0.004
ASPM	1	197111815	T	G	NM_001206846	0.0539	neutral	0.38	0.003	0.002

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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