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
NLRP1	17	5486032	C	T	NM_001033053	0.0452	neutral	0.05	0.002	0.001
AKAP1	17	55183771	G	A	NM_001242902	0.1224	neutral	0	0	0
AKAP1	17	55189193	G	A	NM_001242902	0.8067	deleterious	0	0	0
VEZF1	17	56060162	T	G	NM_007146	0.9898	deleterious	0	0.995	0.977
MKS1	17	56285320	G	A	NM_001165927	0.6952	deleterious	0	0	0
MPO	17	56353059	G	T	NM_000250	0.9528	deleterious	0	1	1
MPO	17	56356401	A	C	NM_000250	0.974	deleterious	0	0.089	0.239
RNF43	17	56435546	G	A	NM_001305545	0.0016	neutral	0	0	0
HSF5	17	56536222	C	T	NM_001080439	0.1291	neutral	0.07	0.779	0.251
TRIM37	17	57105783	T	C	NM_001005207	0.2991	neutral	0	0	0.002
TBX4	17	59544933	C	T	NM_018488	0.9874	deleterious	0	1	0.999
TLK2	17	60655885	A	C	NM_001284363	0.1607	neutral	0	0	0
TANC2	17	61473156	G	A	NM_025185	0.6173	deleterious	0	1	0.989
ACE	17	61566305	A	G	NM_001178057	0.6385	deleterious	0	0.996	0.95
GH1	17	61994789	G	C	NM_022560	0.0252	neutral	0	0.034	0.06
SCN4A	17	62029050	C	T	NM_000334	0.0934	neutral	0.61	0.142	0.059
SCN4A	17	62049125	G	A	NM_000334	0.9999	deleterious	0	1	1
TEX2	17	62290197	C	T	NM_001288732	0.4111	neutral	0	0	0
POLG2	17	62479069	A	C	NM_007215	0.5012	deleterious	0.02	0.934	0.552
DDX5	17	62499353	C	G	NM_004396	0.6751	deleterious	0	1	0.998

Page Counts: 77/181
77 First Previous 76 77 78 Next Last

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