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
DNAH11	7	21737764	A	G	NM_001277115	0.5422	deleterious	0	0	0
DNAH11	7	21765433	C	G	NM_001277115	0.3026	neutral	0	0	0
CDCA7L	7	21947980	G	A	NM_001127371	0.0385	neutral	0	0.036	0.017
GPNMB	7	23296615	G	A	NM_001005340	0.8101	deleterious	0	0.999	0.928
EIF3B	7	2416614	C	G	NM_001037283	0.0081	neutral	0	0	0
MPP6	7	24681464	A	G	NM_001303037	0.6044	deleterious	0.07	0	0
DFNA5	7	24742438	C	T	NM_001127454	0.0464	neutral	0	0	0
OSBPL3	7	24905795	C	T	NM_015550	0.9973	deleterious	0.08	1	0.999
IQCE	7	2629665	A	G	NM_001287501	0.0341	neutral	0	0	0
PLEKHA8	7	30101537	A	G	NM_001197026	0.4576	neutral	0	0	0
GHRHR	7	31018852	T	C	NM_000823	0.119	neutral	0.02	0.026	0.006
PDE1C	7	31855578	G	T	NM_001191056	0.1524	neutral	0	0.004	0.006
NT5C3A	7	33055445	A	G	NM_001166118	0.1535	neutral	0	0	0
BBS9	7	33384197	C	T	NM_001033604	0.7449	deleterious	0	0.999	0.953
RALA	7	39726339	G	A	NM_005402	0.9998	deleterious	0	1	1
GLI3	7	42005456	T	G	NM_000168	0.974	deleterious	0.01	0.998	0.954
HECW1	7	43540299	G	A	NM_001287059	0.9957	deleterious	0	0	0
POLM	7	44118394	C	G	NM_001284330	0.6348	deleterious	0	0	0
CAMK2B	7	44259671	G	A	NM_172084	0.289	neutral	0	1	1
NPC1L1	7	44561344	G	A	NM_001101648	0.5245	deleterious	0	0.001	0.002

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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