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
ABCF1	6	30554028	C	T	NM_001090	0.3893	neutral	0	0.992	0.731
C6orf136	6	30615559	C	G	NM_001161376	0.0023	neutral	0.26	0	0.002
PPP1R18	6	30652729	G	A	NM_001134870	0.8607	deleterious	0	0.148	0.04
MDC1	6	30672041	C	T	NM_014641	0.244	neutral	0	0.016	0.01
MDC1	6	30679963	A	C	NM_014641	0.0511	neutral	0	0.096	0.036
MDC1	6	30680968	C	T	NM_014641	0.0282	neutral	0	0.023	0.012
MDC1	6	30681921	A	G	NM_014641	0.4896	deleterious	0	0.708	0.144
RIPK1	6	3083327	C	G	NM_003804	0.9989	deleterious	0	1	1
MICA	6	31378965	G	A	NM_000247	0.0059	neutral	0	0	0
BPHL	6	3140676	G	A	NM_001302777	0.2199	neutral	0	0	0
BPHL	6	3152781	A	G	NM_001302777	0.1335	neutral	0	0	0
PRRC2A	6	31603009	A	G	NM_004638	0.0406	neutral	0	0	0
LY6G6F	6	31675849	G	A	NM_001003693	0.0181	neutral	0.03	0.935	0.309
MSH5	6	31726346	G	A	NM_002441	0.1408	neutral	0	0	0
VARS	6	31747474	C	A	NM_006295	0.427	neutral	0.17	0.032	0.048
VARS	6	31760609	G	A	NM_006295	0.1374	neutral	0.01	0.941	0.417
EHMT2	6	31864538	G	A	NM_001289413	0.0549	neutral	0.01	0	0
C2	6	31896646	C	T	NM_001282458	0.0853	neutral	0	0	0
SKIV2L	6	31929737	C	T	NM_006929	0.5562	deleterious	0.02	0.964	0.536
DXO	6	31938187	C	T	NM_005510	0.3526	neutral	0.03	0	0

Page Counts: 150/181
150 First Previous 149 150 151 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