AutismKB 2.0

Evidence Details for SYN1


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Basic Information Top
Gene Symbol:SYN1 ( SYN1a,SYN1b,SYNI )
Gene Full Name: synapsin I
Band: Xp11.3-p11.23
Quick LinksEntrez ID:6853; OMIM: 313440; Uniprot ID:SYN1_HUMAN; ENSEMBL ID: ENSG00000008056; HGNC ID: 11494
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SYN1|6853|nucleotide
ATGAACTACCTGCGGCGCCGCCTGTCGGACAGCAACTTTATGGCCAATCTGCCAAATGGGTACATGACAGACCTGCAGCGTCCGCAGCCGCCCCCACCGCCGCCC
GGTGCCCACAGCCCCGGAGCCACGCCCGGTCCCGGGACCGCCACTGCCGAGAGGTCCTCCGGGGTCGCCCCAGCGGCCTCTCCGGCCGCCCCTAGCCCCGGGTCC
TCGGGGGGCGGTGGCTTCTTCTCGTCGCTGTCCAACGCGGTCAAGCAGACCACGGCGGCGGCAGCTGCCACCTTCAGCGAGCAGGTGGGCGGCGGCTCTGGGGGC
GCAGGCCGCGGGGGAGCCGCCTCCAGGGTGCTGCTGGTCATCGACGAGCCGCACACCGACTGGGCAAAATACTTCAAAGGGAAAAAGATCCATGGAGAAATTGAC
ATTAAAGTAGAACAGGCCGAATTCTCTGATCTCAACCTTGTGGCCCATGCCAATGGTGGATTCTCTGTGGATATGGAAGTTCTTCGGAATGGGGTGAAGGTCGTG
CGGTCTCTGAAGCCGGATTTTGTGCTGATCCGCCAGCACGCCTTCAGCATGGCACGCAACGGAGACTACCGCAGTTTGGTCATTGGGCTGCAGTATGCTGGAATC
CCCAGTGTTAACTCCTTGCATTCTGTCTACAACTTCTGTGACAAGCCCTGGGTGTTTGCCCAGATGGTTCGACTGCATAAGAAACTGGGGACAGAAGAATTCCCT
CTAATTGATCAGACCTTCTACCCCAATCACAAAGAAATGCTCAGCAGTACAACGTACCCCGTGGTTGTGAAGATGGGGCACGCACACTCTGGGATGGGCAAGGTC
AAGGTTGACAACCAGCATGACTTCCAGGACATCGCAAGTGTCGTGGCACTGACCAAGACGTATGCCACTGCCGAGCCCTTCATCGATGCCAAATATGACGTGCGT
GTCCAGAAGATTGGGCAGAACTACAAGGCCTACATGAGGACGTCAGTGTCAGGGAACTGGAAGACCAATACTGGCTCTGCGATGCTGGAGCAAATTGCCATGTCT
GACAGATACAAGCTGTGGGTGGACACGTGCTCAGAGATTTTTGGGGGACTGGACATCTGCGCAGTGGAAGCGCTACATGGCAAGGACGGAAGGGATCACATCATT
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>SYN1|6853|protein
MNYLRRRLSDSNFMANLPNGYMTDLQRPQPPPPPPGAHSPGATPGPGTATAERSSGVAPAASPAAPSPGSSGGGGFFSSLSNAVKQTTAAAAATFSEQVGGGSGG
AGRGGAASRVLLVIDEPHTDWAKYFKGKKIHGEIDIKVEQAEFSDLNLVAHANGGFSVDMEVLRNGVKVVRSLKPDFVLIRQHAFSMARNGDYRSLVIGLQYAGI
PSVNSLHSVYNFCDKPWVFAQMVRLHKKLGTEEFPLIDQTFYPNHKEMLSSTTYPVVVKMGHAHSGMGKVKVDNQHDFQDIASVVALTKTYATAEPFIDAKYDVR
VQKIGQNYKAYMRTSVSGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEIFGGLDICAVEALHGKDGRDHIIEVVGSSMPLIGDHQDEDKQLIVELVVNKMAQALPR
QRQRDASPGRGSHGQTPSPGALPLGRQTSQQPAGPPAQQRPPPQGGPPQPGPGPQRQGPPLQQRPPPQGQQHLSGLGPPAGSPLPQRLPSPTSAPQQPASQAAPP
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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) Yes 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 1 (1) 12 (5)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMEpilepsy, X-linked, with variable learning disabilities and behavior disorders (300491)
DescriptionX-linked epilepsy with variable learning disabilities and behavior disorders
Reference(s)14985377;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Woodbury-Smith M, 2017 - MicroarrayASD - - - - 1 - -
Linkage Studies Top