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
RASEF	9	85677691	T	C	NM_152573	0.0628	neutral	0	0.002	0.004
FRMD3	9	85926860	A	G	NM_001244960	0.6572	deleterious	0	0	0
KIF27	9	86518307	C	T	NM_001271927	0.01	neutral	0	0	0.001
HNRNPK	9	86585713	C	T	NM_002140	0.4304	neutral	0	0	0
NTRK2	9	87338598	G	T	NM_001007097	0.6836	deleterious	0	0.014	0.056
DAPK1	9	90264933	G	A	NM_001288729	0.0817	neutral	0	0	0
DAPK1	9	90301541	C	T	NM_001288729	0.0817	neutral	0	0	0
SECISBP2	9	91964798	C	G	NM_001282689	0.1125	neutral	0.63	0	0
NFIL3	9	94172880	A	C	NM_001289999	0.4612	neutral	0.13	0	0
NOL8	9	95077470	T	A	NM_001256394	0.001	neutral	0.03	0	0
FGD3	9	95782633	A	G	NM_001083536	0.5565	deleterious	0	0.103	0.094
FBP2	9	97321404	A	G	NM_003837	1	deleterious	0	1	1
FBP2	9	97333814	G	A	NM_003837	0.9876	deleterious	0.53	0.999	0.905
PTCH1	9	98239927	C	T	NM_001083604	0.4747	deleterious	0	0	0
HNRNPH2	X	100667398	T	A	NM_001032393	0.0608	neutral	0	0	0
WWC3	X	10104728	G	A	NM_015691	0.9939	deleterious	0	1	0.999
GPRASP1	X	101912545	C	T	NM_001099410	0.9882	deleterious	0	1	0.999
GPRASP1	X	101912889	A	G	NM_001099410	0.1421	neutral	0	0.866	0.55
NRK	X	105190409	A	G	NM_198465	0.268	neutral	0.36	0.997	0.994
RGAG1	X	109695812	C	T	NM_020769	0.0845	neutral	0	0.939	0.272

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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