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
ZNF596	8	196337	A	C	NM_001287399	0.289	neutral	0	0	0
MYOM2	8	2050520	G	A	NM_003970	0.9647	deleterious	0	0.995	0.93
DMTN	8	21931296	C	T	NM_001302817	0.0186	neutral	0	0	0
CCAR2	8	22476678	G	A	NM_021174	0.2423	neutral	0	0.002	0.001
EGR3	8	22548464	T	A	NM_001199881	0.0518	neutral	0	0	0
RHOBTB2	8	22862104	G	T	NM_015178	0.9863	deleterious	0	0.995	0.851
TNFRSF10C	8	22974278	C	T	NM_003841	0.0458	neutral	0.06	0.618	0.187
TNFRSF10C	8	22974315	A	C	NM_003841	0.0872	neutral	0.19	0.618	0.168
DOCK5	8	25258469	C	T	NM_024940	0.9869	deleterious	0.02	0.999	0.959
CDCA2	8	25364646	G	T	NM_152562	0.0016	neutral	0.31	0	0
EBF2	8	25898178	G	T	NM_022659	0.9987	deleterious	0.01	1	0.999
DPYSL2	8	26501494	C	A	NM_001244604	0.453	neutral	0	0	0
ADRA1A	8	26721888	A	C	NM_000680	0.0627	neutral	0	1	0.997
ADRA1A	8	26722027	A	C	NM_000680	0.36	neutral	0	0.926	0.812
PTK2B	8	27308294	G	A	NM_173175	0.062	neutral	0	0.257	0.052
CSMD1	8	2800085	C	T	NM_033225	0.0151	neutral	0	0	0
KIF13B	8	28976449	G	C	NM_015254	0.1262	neutral	0	0.746	0.548
CSMD1	8	2965294	G	C	NM_033225	0.649	deleterious	0	1	0.999
CSMD1	8	2965314	T	C	NM_033225	0.004	neutral	0	0.003	0.007
TEX15	8	30701097	T	C	NM_031271	0.0765	neutral	0	0.933	0.557

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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