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
COMP	19	18897440	T	C	NM_000095	0.3607	neutral	0.01	1	0.999
UPF1	19	18962981	C	T	NM_001297549	0.8804	deleterious	0	0	0
UPF1	19	18965942	G	A	NM_002911	0.9763	deleterious	0	1	0.996
NCAN	19	19338832	C	G	NM_004386	0.0066	neutral	0.5	0.022	0.02
NCAN	19	19359533	T	C	NM_004386	0.6974	deleterious	0.02	0.999	0.978
MAU2	19	19460025	C	T	NM_015329	0.8612	deleterious	0.01	1	0.973
PBX4	19	19680287	C	T	NM_025245	0.9537	deleterious	0	1	0.999
ZNF253	19	20003524	A	T	NM_021047	0.0205	neutral	0	0.918	0.583
ZNF208	19	22154331	A	G	NM_007153	0.0181	neutral	0	0	0
ZNF208	19	22155362	G	C	NM_007153	0.0005	neutral	0	0	0
JSRP1	19	2252771	G	A	NM_144616	0.3356	neutral	0.27	0	0
ZNF681	19	23927743	A	C	NM_138286	0.9876	deleterious	0	1	0.997
GADD45B	19	2477173	T	C	NM_015675	0.9827	deleterious	0	1	1
POP4	19	30104871	G	T	NM_006627	0.4248	neutral	0.06	0.297	0.206
MIER2	19	326548	C	T	NM_017550	0.2443	neutral	0	0.994	0.544
DPY19L3	19	32971365	G	A	NM_001172774	0.3217	neutral	0	0.991	0.627
ANKRD27	19	33135343	A	G	NM_032139	0.9771	deleterious	0	0.998	0.913
CEBPG	19	33870437	A	C	NM_001252296	0.7464	deleterious	0	0	0
LSM14A	19	34706203	G	A	NM_001114093	0.4104	neutral	0	0.994	0.921
FZR1	19	3527699	G	A	NM_001136198	0.9992	deleterious	0	1	0.995

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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