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
R3HDM4	19	900951	A	G	NM_138774	0.2464	neutral	0.43	0.649	0.355
MUC16	19	9060456	G	T	NM_024690	0.0024	neutral	0	0.867	0.451
MUC16	19	9084772	G	C	NM_024690	0.0156	neutral	0	0.991	0.934
ZNF559	19	9451802	A	T	NM_001202406	0.0067	neutral	0	0	0
ZNF559	19	9452698	G	A	NM_001202407	0.0247	neutral	0	0	0
ZNF266	19	9524715	A	G	NM_001271314	0.0845	neutral	0	0	0
ZNF560	19	9577895	T	G	NM_152476	0.0402	neutral	0.03	0.714	0.381
ZNF426	19	9640036	A	G	NM_001300883	0.0433	neutral	0	0	0
FBXL12	19	9921616	T	C	NM_001316937	0.1084	neutral	0	0	0
RFX8	2	102083246	A	C	NM_001145664	0.148	neutral	0	1	0.998
IL1RL1	2	102965622	G	A	NM_016232	0.3204	neutral	0.03	0.998	0.981
C2orf48	2	10350638	A	C	NM_182626	0.0168	neutral	0	0	0
NOL10	2	10747348	A	C	NM_001261394	0.003	neutral	0.05	0.925	0.54
SEPT10	2	110323354	C	G	NM_178584	0.9747	deleterious	0	1	1
SLC20A1	2	113417216	G	T	NM_005415	0.8294	deleterious	0.21	0.02	0.021
PSD4	2	113940833	C	T	NM_012455	0.1058	neutral	0	0.559	0.276
NTSR2	2	11802293	A	T	NM_012344	0.8895	deleterious	0	1	0.999
LPIN1	2	11945252	G	C	NM_145693	0.9899	deleterious	0	1	1
MARCO	2	119739065	G	A	NM_006770	0.9857	deleterious	0	0.981	0.666
CLASP1	2	122122758	T	G	NM_001142274	0.8044	deleterious	0	0.999	0.994

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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