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
TNXB	6	32020552	C	T	NM_019105	0.0181	neutral	0	0.927	0.494
TNXB	6	32049895	G	T	NM_019105	0.0175	neutral	1	0.065	0.146
PBX2	6	32155879	T	A	NM_002586	0.8661	deleterious	0.08	0.11	0.098
HLA-DQA1	6	32609173	C	G	NM_002122	0.0092	neutral	0.4	0	0.003
SLC22A23	6	3273431	G	A	NM_001286455	0.2415	neutral	0.22	0	0
BRD2	6	32942326	G	T	NM_001113182	0.2186	neutral	0	0	0
HLA-DPB1	6	33053592	C	T	NM_002121	0.2993	neutral	0	1	0.939
SYNGAP1	6	33391326	G	A	NM_006772	0.2478	neutral	0	0.829	0.614
SYNGAP1	6	33403326	G	A	NM_006772	0.9946	deleterious	0	0.94	0.459
SYNGAP1	6	33408570	C	T	NM_006772	0.7943	deleterious	0	1	0.999
SYNGAP1	6	33411463	C	G	NM_006772	0.1258	neutral	0	0.224	0.066
HMGA1	6	34208681	G	A	NM_145899	0.0969	neutral	0	0.444	0.035
DUSP22	6	345911	G	C	NM_001286555	0.2232	neutral	0	0	0
UHRF1BP1	6	34824175	G	A	NM_017754	0.0619	neutral	0.15	0.001	0.002
ANKS1A	6	34985466	C	T	NM_015245	0.0531	neutral	0.08	0.768	0.181
SCUBE3	6	35212504	G	A	NM_001303136	0.3297	neutral	0	0	0
ZNF76	6	35259464	G	A	NM_001292032	0.9819	deleterious	0	0	0
DEF6	6	35289153	A	C	NM_022047	0.0303	neutral	0.02	0.021	0.008
PPARD	6	35389613	C	T	NM_001171818	0.9537	deleterious	0	0	0
CLPSL1	6	35755695	A	G	NM_001010886	0.002	neutral	0	0	0.001

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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