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
PRR19	19	42813829	G	C	NM_199285	0.4428	neutral	0.04	0.231	0.083
PSG11	19	43529205	A	G	NM_002785	0.0568	neutral	1	0	0
PHLDB3	19	43991217	C	T	NM_198850	0.0282	neutral	0.05	0.01	0.002
ETHE1	19	44015690	T	C	NM_014297	0.9987	deleterious	0	1	1
ZNF576	19	44103310	C	T	NM_001145347	0.2629	neutral	0.02	0	0
UBXN6	19	4446075	C	T	NM_001171091	0.1259	neutral	0	0	0
ZNF233	19	44778797	T	A	NM_001207005	0.0071	neutral	0	0	0
ZNF235	19	44792636	G	A	NM_004234	0.8725	deleterious	0	1	0.988
ZNF112	19	44832737	C	T	NM_013380	0.1273	neutral	0	0	0
ZNF229	19	44932747	C	T	NM_001278510	0.0374	neutral	0	0	0
CLPTM1	19	45490617	C	G	NM_001282176	0.1256	neutral	0	0	0
GIPR	19	46180216	G	A	NM_001308418	0.0252	neutral	0	0	0
DMPK	19	46273858	A	G	NM_001288765	0.0584	neutral	0	0	0
DMPK	19	46280586	C	A	NM_001288765	0.0806	neutral	0	0	0
PPP5C	19	46893372	C	T	NM_001204284	0.2661	neutral	0	0	0
PRKD2	19	47181869	G	A	NM_001079882	0.0145	neutral	0	0	0
PRKD2	19	47207621	G	A	NM_001079880	0.1716	neutral	0	0	0
ZC3H4	19	47584864	T	A	NM_015168	0.9553	deleterious	0	1	0.991
MEIS3	19	47920081	T	C	NM_001009813	0.3684	neutral	0	0.007	0.028
ZNF541	19	48059056	A	G	NM_001277075	0.1025	neutral	0	0.006	0.007

Page Counts: 89/181
89 First Previous 88 89 90 Next Last

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