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
RASAL1	12	113544958	C	G	NM_001193521	0.0086	neutral	0	0	0
RBM19	12	114352870	C	T	NM_001146698	0.029	neutral	0	0	0
PRB4	12	11461769	G	T	NM_001261399	0.0334	neutral	0	0	0
MED13L	12	116403994	G	A	NM_015335	0.9469	deleterious	0	1	0.999
MED13L	12	116429238	T	C	NM_015335	0.8739	deleterious	0.2	0.997	0.788
C12orf49	12	117175608	C	T	NM_024738	0.2321	neutral	0.19	0.987	0.709
NOS1	12	117657987	C	T	NM_001204213	0.7719	deleterious	0	0	0
TAOK3	12	118610267	G	A	NM_016281	0.026	neutral	0	0.019	0.004
CIT	12	120220431	C	T	NM_001206999	0.4689	deleterious	0	0.986	0.644
P2RX7	12	121603240	C	T	NM_002562	0.8809	deleterious	0	1	0.987
P2RX4	12	121666863	G	A	NM_001261397	0.0794	neutral	0	0.172	0.031
WDR66	12	122359408	G	A	NM_001178003	0.002	neutral	0	0	0
BCL2L14	12	12247836	C	T	NM_138722	0.1189	neutral	0	0	0
LRRC43	12	122685163	A	G	NM_152759	0.0111	neutral	0	0	0
LRRC43	12	122685164	A	G	NM_152759	0.0144	neutral	0	0	0
CLIP1	12	122825398	C	T	NM_198240	0.1917	neutral	0	0.994	0.731
LRP6	12	12288208	C	T	NM_002336	0.9767	deleterious	0.02	1	0.999
HCAR1	12	123214180	C	T	NM_032554	0.8372	deleterious	0	1	0.999
DENR	12	123246737	G	A	NM_003677	0.991	deleterious	0	0.998	0.966
PITPNM2	12	123470840	G	A	NM_001300801	0.2582	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