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
LCN10	9	139636334	G	A	NM_001001712	0.0787	neutral	0	1	0.998
LCN12	9	139849847	G	C	NM_178536	0.0534	neutral	0	0.744	0.23
ABCA2	9	139905870	C	T	NM_001606	0.2475	neutral	0	0	0
ABCA2	9	139917312	G	C	NM_212533	0.7908	deleterious	0	0.986	0.831
NPDC1	9	139934810	G	A	NM_015392	0.6973	deleterious	0	1	0.996
NDOR1	9	140107044	T	C	NM_001144026	0.9343	deleterious	0	1	0.999
CACNA1B	9	140772650	A	G	NM_000718	0.4965	deleterious	0	0.993	0.968
CACNA1B	9	140777199	G	T	NM_000718	0.9905	deleterious	0	1	0.985
NFIB	9	14307297	G	A	NM_001190738	0.9517	deleterious	0	0	0
DENND4C	9	19360248	T	G	NM_017925	0.0221	neutral	0	0	0
ACER2	9	19446308	G	C	NM_001010887	0.9942	deleterious	0	1	0.998
SLC24A2	9	19619608	A	T	NM_001193288	0.9997	deleterious	0	0.746	0.561
SMARCA2	9	2076312	T	A	NM_001289396	0.0831	neutral	0	0	0
FOCAD	9	20926307	C	T	NM_017794	0.0197	neutral	0	0.986	0.541
IFNA4	9	21187406	G	C	NM_021068	0.012	neutral	0.66	0	0.003
EQTN	9	27291044	G	T	NM_001161585	0.0192	neutral	0	0.992	0.833
DOCK8	9	312134	G	A	NM_001190458	0.1844	neutral	0	0.782	0.155
DDX58	9	32493940	C	T	NM_014314	0.194	neutral	0	0.66	0.2
TOPORS	9	32542278	T	C	NM_001195622	0.0003	neutral	0	0	0
TOPORS	9	32542613	G	A	NM_001195622	0.0011	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