AutismKB 2.0

Evidence Details for SYNE2


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Basic Information Top
Gene Symbol:SYNE2 ( DKFZp434H2235,DKFZp686E01115,DKFZp686H1931,EDMD5,FLJ11014,FLJ43727,FLJ45710,FLJ46790,KIAA1011,NUA,NUANCE,Nesprin-2,SYNE-2,TROPH )
Gene Full Name: spectrin repeat containing, nuclear envelope 2
Band: 14q23.2
Quick LinksEntrez ID:23224; OMIM: 608442; Uniprot ID:SYNE2_HUMAN; ENSEMBL ID: ENSG00000054654; HGNC ID: 17084
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SYNE2|23224|nucleotide
ATGGCATCTAGTCCTGAGCTTCCCACCGAAGATGAACAGGGTTCCTGGGGCATCGACGATCTCCATATTTCATTGCAAGCTGAACAGGAAGACACCCAGAAGAAA
GCCTTCACGTGCTGGATAAACTCACAGTTGGCCAGGCACACTTCTCCCTCAGTTATATCCGACCTATTCACAGACATTAAAAAGGGGCATGTCCTCCTGGATCTG
CTAGAAGTACTTTCTGGGCAACAGTTGCCTCGGGATAAAGGATCTAATACCTTCCAGTGTAGAATCAATATAGAACATGCCTTGACATTCCTAAGAAACCGATCA
ATTAAGCTAATAAATATTCATGTTACTGATATCATTGATGGAAACCCATCCATTATCCTTGGCCTAATTTGGACAATTATCCTGCACTTTCATATTGAGAAGCTT
GCCCAGACTCTTTCTTGCAATTACAATCAGCCTTCCCTGGATGATGTGAGTGTGGTTGACTCATCTCCTGCCTCAAGTCCTCCAGCTAAGAAATGCTCTAAAGTG
CAAGCAAGATGGCAAATGTCTGCAAGAAAGGCCCTTCTTTTGTGGGCTCAGGAACAATGCGCCACCTATGAGTCTGTCAATGTGACCGATTTTAAGTCAAGTTGG
AGAAATGGGATGGCTTTTTTGGCCATCATTCATGCCTTGCGACCAGACCTAATTGACATGAAGAGTGTGAAGCATAGATCCAACAAAGACAATCTGAGAGAGGCC
TTCAGAATTGCAGAACAAGAATTAAAAATCCCCAGATTGCTGGAACCAGAAGATGTGGATGTTGTTGATCCTGATGAAAAGTCCATCATGACCTATGTGGCACAG
TTTCTGCAGTATTCCAAAGATGCCCCTGGGACTGGAGAGGAGGCTCAGGGAAAGGTGAAAGATGCTATGGGCTGGTTAACTCTGCAAAAGGAAAAACTACAGAAG
TTGCTAAAGGATTCAGAGAATGATACCTACTTTAAAAAGTATAATAGCCTGCTGTCCTTTATGGAGTCATTCAATGAAGAAAAAAAGTCCTTTTTGGATGTCCTG
TCAATAAAACGGGATCTGGATGAGCTGGACAAGGATCATTTACAGTTGAGAGAAGCCTGGGATGGCCTCGATCACCAGATTAATGCATGGAAAATAAAGCTAAAT
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>SYNE2|23224|protein
MASSPELPTEDEQGSWGIDDLHISLQAEQEDTQKKAFTCWINSQLARHTSPSVISDLFTDIKKGHVLLDLLEVLSGQQLPRDKGSNTFQCRINIEHALTFLRNRS
IKLINIHVTDIIDGNPSIILGLIWTIILHFHIEKLAQTLSCNYNQPSLDDVSVVDSSPASSPPAKKCSKVQARWQMSARKALLLWAQEQCATYESVNVTDFKSSW
RNGMAFLAIIHALRPDLIDMKSVKHRSNKDNLREAFRIAEQELKIPRLLEPEDVDVVDPDEKSIMTYVAQFLQYSKDAPGTGEEAQGKVKDAMGWLTLQKEKLQK
LLKDSENDTYFKKYNSLLSFMESFNEEKKSFLDVLSIKRDLDELDKDHLQLREAWDGLDHQINAWKIKLNYALPPPLHQTEAWLQEVEELMDEDLSASQDHSQAV
TLIQEKMTLFKSLMDRFEHHSNILLTFENKDENHLPLVPPNKLEEMKRRINNILEKKFILLLEFHYYKCLVLGLVDEVKSKLDIWNIKYGSRESVELLLEDWHKF
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 4 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
MIXED/OTHERS
Anney R, 2012_1 - Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray 1301 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top