AutismKB 2.0

Evidence Details for SYNE1


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Basic Information Top
Gene Symbol:SYNE1 ( 8B,ARCA1,C6orf98,CPG2,DKFZp781J13156,EDMD4,FLJ30878,FLJ41140,KIAA0796,KIAA1262,KIAA1756,MYNE1,SCAR8,dJ45H2.2 )
Gene Full Name: spectrin repeat containing, nuclear envelope 1
Band: 6q25.2
Quick LinksEntrez ID:23345; OMIM: 608441; Uniprot ID:SYNE1_HUMAN; ENSEMBL ID: ENSG00000131018; HGNC ID: 17089
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SYNE1|23345|nucleotide
ATGGAATTAGATGCAGCAGTACAGAAATTCTTGGAACAGAATGGCCAACTGGGTAAGCCACTGGCCAAGAAGATAGGAAAACTGACTGAACTTCACCAGCAGACC
ATTAGACAAGCTGAGAATCGGCTCTCCAAGCTCAATCAGGCAGCATCACATTTAGAAGAATACAATGAAATGCTTGAATTAATTTTGAAGTGGATTGAAAAAGCT
AAAGTCTTGGCTCATGGAACTATTGCATGGAATTCTGCAAGCCAGCTTCGGGAACAATATATTTTGCATCAGACCCTGCTAGAAGAATCCAAAGAAATTGACAGT
GAGCTGGAAGCAATGACTGAGAAATTACAGTACCTCACTAGCGTGTACTGTACAGAAAAAATGTCTCAGCAAGTGGCAGAACTGGGACGGGAGACTGAGGAGTTG
CGACAGATGATCAAAATTCGTTTGCAGAACCTCCAAGATGCAGCTAAGGATATGAAAAAATTTGAAGCAGAGTTGAAAAAGTTACAAGCTGCCTTGGAGCAAGCC
CAGGCAACACTGACTTCTCCAGAAGTTGGACGTCTCAGTCTCAAGGAGCAGCTCTCTCATCGGCAGCATTTGTTGTCTGAGATGGAGTCACTGAAGCCGAAGGTG
CAAGCAGTGCAGCTCTGCCAGAGTGCCCTCCGGATCCCCGAGGATGTGGTTGCCAGCTTACCTCTCTGTCATGCTGCTCTGCGGCTGCAGGAAGAGGCCAGCCGG
CTGCAGCACACCGCCATCCAGCAGTGTAACATCATGCAGGCAGCTGTGGTACAATATGAACAATATGAGCAAGAAATGAAACATCTCCAGCAACTGATAGAAGGA
GCTCACAGAGAGATTGAGGATAAACCTGTTGCCACCAGTAACATACAGGAGCTGCAGGCTCAGATTTCTCGGCATGAGGAGCTGGCGCAGAAAATTAAGGGCTAC
CAGGAGCAGATCGCTTCTTTGAATTCCAAGTGCAAGATGCTGACGATGAAAGCCAAGCACGCCACCATGCTGCTGACGGTGACCGAGGTCGAGGGGCTGGCGGAA
GGGACAGAGGACCTGGATGGGGAGCTCCTCCCCACGCCTTCGGCCCACCCCTCTGTGGTCATGATGACTGCAGGTCGCTGTCACACTTTGCTGTCACCGGTCACT
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>SYNE1|23345|protein
MELDAAVQKFLEQNGQLGKPLAKKIGKLTELHQQTIRQAENRLSKLNQAASHLEEYNEMLELILKWIEKAKVLAHGTIAWNSASQLREQYILHQTLLEESKEIDS
ELEAMTEKLQYLTSVYCTEKMSQQVAELGRETEELRQMIKIRLQNLQDAAKDMKKFEAELKKLQAALEQAQATLTSPEVGRLSLKEQLSHRQHLLSEMESLKPKV
QAVQLCQSALRIPEDVVASLPLCHAALRLQEEASRLQHTAIQQCNIMQAAVVQYEQYEQEMKHLQQLIEGAHREIEDKPVATSNIQELQAQISRHEELAQKIKGY
QEQIASLNSKCKMLTMKAKHATMLLTVTEVEGLAEGTEDLDGELLPTPSAHPSVVMMTAGRCHTLLSPVTEESGEEGTNSEISSPPACRSPSPVANTDASVNQDI
AYYQALSAERLQTDAAKIHPSTSASQEFYEPGLEPSATAKLGDLQRSWETLKNVISEKQRTLYEALERQQKYQDSLQSISTKMEAIELKLSESPEPGRSPESQMA
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Evidence summary Top

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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 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (7) 1 (1) 0 (1) 0 (0) 11 (10)
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)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		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