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
SLC6A8	X	152959387	C	A	NM_001142806	0.2144	neutral	0	0	0
SLC6A8	X	152960226	C	G	NM_001142806	0.1287	neutral	0	0	0
FLNA	X	153580387	C	T	NM_001456	0.4562	neutral	0	0.99	0.728
FLNA	X	153593613	C	T	NM_001110556	0.5221	deleterious	0	0.999	0.953
FLNA	X	153594754	C	T	NM_001110556	0.9935	deleterious	0	0.999	0.98
PLXNA3	X	153698849	C	T	NM_017514	0.7883	deleterious	0	0.999	0.966
GAB3	X	153908482	G	A	NM_080612	0.0848	neutral	0.05	0.019	0.003
RAB39B	X	154493543	G	A	NM_171998	0.8781	deleterious	0.04	1	0.989
TXLNG	X	16847829	A	T	NM_001168683	0.4665	deleterious	0	0.178	0.126
NHS	X	17750042	G	C	NM_001291868	0.0454	neutral	0	0	0
CDKL5	X	18622983	C	A	NM_001037343	0.939	deleterious	0	0	0
CXorf23	X	19947974	G	A	NM_198279	0.1347	neutral	0	1	0.923
ARX	X	25031277	C	T	NM_139058	0.048	neutral	0.55	0.437	0.08
NR0B1	X	30327222	C	A	NM_000475	0.2428	neutral	0	1	0.999
DMD	X	32364161	G	C	NM_004010	0.1842	deleterious	0	0	0
MXRA5	X	3248358	T	C	NM_015419	0.8912	deleterious	0	1	0.998
USP9X	X	41025217	A	T	NM_001039590	0.9798	deleterious	0	1	1
DDX3X	X	41203604	G	A	NM_001193417	0.4004	neutral	0	1	0.999
CASK	X	41519760	G	A	NM_001126054	0.9635	deleterious	0	0.999	0.968
CASK	X	41524649	C	T	NM_001126054	0.9794	deleterious	0	1	1

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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