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
MAP3K7	6	91226345	G	A	NM_003188	0.868	deleterious	0	0.999	0.796
EPHA7	6	93965574	T	C	NM_001288629	0.0189	neutral	0	0	0
KLHL32	6	97561801	C	T	NM_001286251	0.6898	deleterious	0	0	0
MMS22L	6	97627418	A	C	NM_198468	0.9712	deleterious	0.11	0.998	0.914
FAXC	6	99771430	G	A	NM_032511	0.3535	neutral	0.26	0.592	0.056
USP45	6	99887716	G	A	NM_001080481	0.9771	deleterious	0.09	1	1
MEPCE	7	100028771	G	A	NM_019606	0.4763	deleterious	0.98	0.982	0.525
PPP1R35	7	100033271	G	C	NM_145030	0.1943	neutral	0.09	0.993	0.927
TFR2	7	100229477	C	A	NM_001206855	0.6617	deleterious	0	0	0
GNB2	7	100274988	G	A	NM_005273	0.9834	deleterious	0	0.999	0.977
SLC12A9	7	100460363	G	A	NM_001267814	0.3047	neutral	0	0.004	0.004
ACHE	7	100488870	G	A	NM_001282449	0.6754	deleterious	0	0	0
ACHE	7	100491066	G	A	NM_000665	0.9692	deleterious	0.37	1	0.992
ACHE	7	100491403	C	T	NM_000665	0.9971	deleterious	0	1	1
MUC12	7	100643391	T	G	NM_001164462	0.008	neutral	0	0	0
MUC12	7	100643718	T	G	NM_001164462	0.0129	neutral	0	0	0
MUC12	7	100645744	C	T	NM_001164462	0.0179	neutral	0	0	0
MUC12	7	100645791	A	C	NM_001164462	0.0194	neutral	0	0	0
MUC12	7	100645863	C	A	NM_001164462	0.0057	neutral	0	0	0
MUC12	7	100646887	C	G	NM_001164462	0.0016	neutral	0	0	0

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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