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
MME	3	154834771	T	C	NM_000902	0.9997	deleterious	0	0.992	0.995
PLCH1	3	155199428	G	A	NM_014996	0.0442	neutral	0	0	0
PLCH1	3	155208647	G	C	NM_014996	0.8701	deleterious	0	0	0
GMPS	3	155615774	G	T	NM_003875	0.5125	deleterious	0	1	0.999
LEKR1	3	156570593	G	A	NM_001004316	0.0581	neutral	0.17	0	0
NMD3	3	160960410	G	A	NM_015938	0.1799	neutral	0.22	0	0.002
ZBBX	3	166958690	G	T	NM_001199202	0.0411	neutral	0	0	0
MECOM	3	168819995	A	G	NM_001164000	0.5612	deleterious	0	0	0
MECOM	3	168838891	C	T	NM_001105078	0.7881	deleterious	0	0	0
ACTRT3	3	169485485	C	T	NM_032487	0.0112	neutral	0	0	0.001
LRRC34	3	169513985	T	A	NM_001172780	0.3347	neutral	0	0	0
LRRC31	3	169579555	T	A	NM_001277127	0.151	neutral	0	0	0
PHC3	3	169831268	T	C	NM_001308116	0.0128	neutral	0	0	0
SKIL	3	170079096	A	C	NM_001145098	0.2953	neutral	0	0	0
RPL22L1	3	170584249	C	A	NM_001099645	0.9954	deleterious	0	0.94	0.847
SLC2A2	3	170720420	G	A	NM_001278659	0.1029	neutral	0	0	0
FNDC3B	3	172048426	C	T	NM_001135095	0.3595	neutral	0.02	0	0
NLGN1	3	173996749	G	A	NM_014932	0.8636	deleterious	0	0.714	0.477
TBL1XR1	3	176750844	G	C	NM_024665	0.988	deleterious	0	0.963	0.865
TBL1XR1	3	176750853	T	C	NM_024665	0.9966	deleterious	0	0.996	0.968

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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