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
CUX1	7	101821789	T	C	NM_001202545	0.0366	neutral	0	0	0.001
SLC26A5	7	103014942	G	C	NM_001167962	0.0256	neutral	0	0.898	0.282
RELN	7	103130237	C	T	NM_005045	0.9949	deleterious	0	0	0
RELN	7	103155785	C	T	NM_005045	0.8648	deleterious	0	0	0
RELN	7	103162572	A	G	NM_005045	0.9014	deleterious	0	0	0
RELN	7	103194122	G	T	NM_005045	0.6015	deleterious	0	0	0
RELN	7	103234202	C	T	NM_005045	0.7065	deleterious	0	0	0
KMT2E	7	104747899	G	T	NM_018682	0.1679	neutral	0.03	0	0
CBLL1	7	107399132	T	G	NM_001284291	0.0011	neutral	0	0	0
SLC26A3	7	107427322	A	C	NM_000111	0.2027	neutral	0.18	0.917	0.617
SLC26A3	7	107434192	A	T	NM_000111	0.9968	deleterious	0.01	1	0.999
LAMB1	7	107564710	A	G	NM_002291	0.667	deleterious	0.09	1	0.998
LAMB4	7	107669504	C	G	NM_007356	0.2014	neutral	0	1	0.994
NRCAM	7	107822355	G	A	NM_001193583	0.8241	deleterious	0	0.915	0.853
PNPLA8	7	108128243	C	G	NM_001256010	0.1669	neutral	0	0	0
MET	7	116398602	G	A	NM_000245	0.5103	deleterious	0	0.952	0.462
ST7	7	116593742	A	C	NM_018412	0.3325	neutral	0	0.127	0.025
ASZ1	7	117022166	A	C	NM_001301821	0.0996	neutral	0.01	0	0
KCND2	7	120373051	G	A	NM_012281	0.998	deleterious	0	1	0.997
AASS	7	121766464	C	A	NM_005763	0.9992	deleterious	0	0.997	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