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
ATP11A	13	113516804	C	T	NM_015205	0.68	deleterious	0	0.48	0.048
ATP11A	13	113530101	A	G	NM_015205	0.0246	neutral	0	0	0
ADPRHL1	13	114107662	T	C	NM_138430	0.0105	neutral	0.32	0	0
TPTE2	13	20006639	T	A	NM_001141968	0.34	neutral	0	0.986	0.924
MICU2	13	22077136	G	A	NM_152726	0.7658	deleterious	0	1	0.997
SACS	13	23905698	A	G	NM_001278055	0.8908	deleterious	0	0	0
SACS	13	23914892	C	G	NM_014363	0.7641	deleterious	0.18	0	0
RNF17	13	25373552	C	A	NM_001184993	0.0319	neutral	0.54	0.042	0.038
CENPJ	13	25486801	G	C	NM_018451	0.2085	neutral	0.53	0.421	0.04
MTMR6	13	25823414	C	A	NM_004685	0.1404	neutral	0	0.006	0.004
RNF6	13	26788664	C	T	NM_005977	0.2237	neutral	0	0	0
CDK8	13	26967554	A	G	NM_001260	0.9469	deleterious	0.05	0.124	0.121
CDX2	13	28542803	T	C	NM_001265	0.1907	neutral	0.56	0.078	0.062
CDX2	13	28543127	A	C	NM_001265	0.9977	deleterious	0	1	0.987
RXFP2	13	32366048	C	G	NM_001166058	0.5089	deleterious	0	0.983	0.851
FRY	13	32698445	T	A	NM_023037	0.1173	neutral	0	0.573	0.303
FRY	13	32785102	G	A	NM_023037	0.8619	deleterious	0	0.999	0.961
BRCA2	13	32915264	G	A	NM_000059	0.0395	neutral	0	0	0
BRCA2	13	32929306	G	A	NM_000059	0.4272	neutral	0	0	0
BRCA2	13	32968952	G	A	NM_000059	0.9696	deleterious	0	0.542	0.034

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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