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
MAPK13	6	36106748	C	T	NM_002754	0.9189	deleterious	0	0.999	0.574
TBC1D22B	6	37280756	G	A	NM_017772	0.9927	deleterious	0	0.997	0.976
BTBD9	6	38561774	A	G	NM_152733	0.1444	neutral	0.01	0	0
DNAH8	6	38957948	C	T	NM_001206927	0.3028	neutral	0	0	0
KIF6	6	39512337	C	T	NM_001289020	0.7291	deleterious	0.26	0	0
MOCS1	6	39902097	G	C	NM_001075098	0.4875	neutral	0	0	0.001
NFYA	6	41046839	A	G	NM_002505	0.8242	deleterious	0	0.929	0.52
TFEB	6	41657498	T	A	NM_001271944	0.2257	neutral	0	0	0
PRICKLE4	6	41751917	G	C	NM_013397	0.0223	neutral	0	0.023	0.01
C6orf132	6	42072671	G	T	NM_001164446	0.7684	deleterious	0.11	0	0
C6orf132	6	42072672	C	T	NM_001164446	0.3952	neutral	0.16	0	0
C6orf132	6	42073489	C	T	NM_001164446	0.105	neutral	0.42	0	0
GUCA1B	6	42153428	C	A	NM_002098	0.7654	deleterious	0	0.027	0.058
UBR2	6	42613210	G	A	NM_015255	0.5125	deleterious	0	0.999	0.994
UBR2	6	42627568	C	G	NM_015255	0.5125	deleterious	0.94	0.385	0.108
UBR2	6	42631075	G	A	NM_015255	0.5125	deleterious	0.06	1	1
UBR2	6	42657338	G	T	NM_015255	0.5125	deleterious	0.13	1	1
PEX6	6	42932835	C	T	NM_001316313	0.4875	neutral	0	0	0
PPP2R5D	6	42975000	G	A	NM_180976	0.4696	neutral	0	0	0
PPP2R5D	6	42975003	G	A	NM_180976	0.4696	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