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
TBC1D31	8	124113166	T	A	NM_001145088	0.3109	neutral	0	0.432	0.135
TBC1D31	8	124140567	G	C	NM_001145088	0.0215	neutral	0	0.06	0.034
RNF139	8	125499557	C	T	NM_007218	0.1874	neutral	0.06	0.129	0.048
EFR3A	8	132952779	G	A	NM_015137	0.9932	deleterious	0	1	0.993
EFR3A	8	132982744	T	C	NM_015137	0.9888	deleterious	0	1	0.988
EFR3A	8	132998507	A	G	NM_015137	0.0433	neutral	0.32	0	0.001
KCNQ3	8	133141789	C	T	NM_001204824	0.0923	neutral	0	0	0
KCNQ3	8	133192475	G	A	NM_001204824	0.6706	deleterious	0	0	0
COL22A1	8	139815174	C	G	NM_152888	0.7307	deleterious	0.33	1	0.96
TRAPPC9	8	141381255	G	A	NM_001160372	0.51	deleterious	0	1	0.99
DENND3	8	142170768	G	A	NM_014957	0.018	neutral	0.54	0.867	0.085
ADGRB1	8	143592361	A	G	NM_001702	0.0533	neutral	0.13	0.042	0.089
PSCA	8	143762748	C	G	NM_005672	0.0103	neutral	0	0	0
EEF1D	8	144671357	G	A	NM_001130053	0.0108	neutral	0	0	0
EEF1D	8	144671359	G	A	NM_001130053	0.0189	neutral	0	0	0
SCRIB	8	144891120	G	A	NM_015356	0.2495	neutral	0.59	0.036	0.021
SCRIB	8	144895053	C	G	NM_015356	0.9229	deleterious	0.01	1	1
PUF60	8	144899878	G	A	NM_001271100	0.0141	neutral	0	0	0
EPPK1	8	144941198	T	G	NM_031308	0.1152	neutral	0	0.004	0.006
EPPK1	8	144945296	C	T	NM_031308	0.0529	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