Evidence Details for SYN1
Basic Information Top
| Gene Symbol: | SYN1 ( SYN1a,SYN1b,SYNI ) |
|---|---|
| Gene Full Name: | synapsin I |
| Band: | Xp11.3-p11.23 |
| Quick Links | Entrez 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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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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MNYLRRRLSDSNFMANLPNGYMTDLQRPQPPPPPPGAHSPGATPGPGTATAERSSGVAPAASPAAPSPGSSGGGGFFSSLSNAVKQTTAAAAATFSEQVGGGSGG
AGRGGAASRVLLVIDEPHTDWAKYFKGKKIHGEIDIKVEQAEFSDLNLVAHANGGFSVDMEVLRNGVKVVRSLKPDFVLIRQHAFSMARNGDYRSLVIGLQYAGI
PSVNSLHSVYNFCDKPWVFAQMVRLHKKLGTEEFPLIDQTFYPNHKEMLSSTTYPVVVKMGHAHSGMGKVKVDNQHDFQDIASVVALTKTYATAEPFIDAKYDVR
VQKIGQNYKAYMRTSVSGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEIFGGLDICAVEALHGKDGRDHIIEVVGSSMPLIGDHQDEDKQLIVELVVNKMAQALPR
QRQRDASPGRGSHGQTPSPGALPLGRQTSQQPAGPPAQQRPPPQGGPPQPGPGPQRQGPPLQQRPPPQGQQHLSGLGPPAGSPLPQRLPSPTSAPQQPASQAAPP
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Evidence summary TopClick 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) | Yes | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 1 (1) | 12 (5) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Epilepsy, X-linked, with variable learning disabilities and behavior disorders (300491) |
| Description | X-linked epilepsy with variable learning disabilities and behavior disorders |
| Reference(s) | 14985377; |
| Level | Level 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) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Edens, 2011 | Honduras | aCGH |  |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Woodbury-Smith M, 2017 | - | Microarray | | | ASD | - | - | - | - | 1 | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Nava C, 2012 | France | - | | | ASD | 12 | - | 12 | - | - |
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | | | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.