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
KDM4A	1	44132164	C	T	NM_014663	0.1292	neutral	0	1	1
KLF17	1	44595425	C	G	NM_173484	0.2916	neutral	0.01	0.445	0.082
DMAP1	1	44680521	G	A	NM_001034023	0.7376	deleterious	0	0	0
PTCH2	1	45295296	C	T	NM_001166292	0.3857	neutral	0	0	0
RAD54L	1	46726433	G	A	NM_001142548	0.9614	deleterious	0	0	0
DMBX1	1	46977822	C	A	NM_172225	0.4772	deleterious	0.69	0.998	0.99
CYP4B1	1	47280830	A	G	NM_000779	0.0408	neutral	0.04	0.329	0.496
CYP4X1	1	47498961	G	A	NM_178033	0.0265	neutral	0.03	0.562	0.219
STIL	1	47746815	T	C	NM_001282938	0.0256	neutral	0	0	0
TTC39A	1	51771704	T	C	NM_001297664	0.0234	neutral	0.28	0	0
OSBPL9	1	52253139	G	C	NM_148904	0.0099	neutral	0	0	0
CPT2	1	53676893	T	C	NM_000098	0.9995	deleterious	0	1	1
CDCP2	1	54610291	T	C	NM_201546	0.8203	deleterious	0.07	1	0.999
ACOT11	1	55050353	G	A	NM_015547	0.0115	neutral	0	0.04	0.008
ACOT11	1	55060359	A	G	NM_015547	0.2074	neutral	0	0.001	0.004
C1orf168	1	57254697	G	A	NM_001004303	0.5251	deleterious	0.02	1	0.984
MYSM1	1	59147575	T	C	NM_001085487	0.1887	neutral	0.51	0	0.001
NPHP4	1	5935138	T	C	NM_001291593	0.4932	neutral	0	0	0
NPHP4	1	5965455	C	T	NM_001291593	0.4932	neutral	0	0	0
FGGY	1	60106970	T	G	NM_001113411	0.007	neutral	0	0.001	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