AutismKB 2.0

Evidence Details for SYP


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Basic Information Top
Gene Symbol:SYP ( MRXSYP )
Gene Full Name: synaptophysin
Band: Xp11.23
Quick LinksEntrez ID:6855; OMIM: 313475; Uniprot ID:SYPH_HUMAN; ENSEMBL ID: ENSG00000102003; HGNC ID: 11506
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SYP|6855|nucleotide
ATGCTGCTGCTGGCGGACATGGACGTGGTGAATCAGCTGGTGGCTGGGGGTCAGTTCCGGGTGGTCAAGGAGCCCCTCGGCTTTGTGAAGGTGCTGCAATGGGTC
TTCGCCATCTTCGCCTTTGCCACATGCGGCAGCTACAGTGGGGAGCTCCAGCTGAGCGTGGATTGTGCCAACAAGACCGAGAGTGACCTCAGCATCGAGGTCGAG
TTCGAGTACCCCTTCAGGCTGCACCAAGTGTACTTTGATGCACCCACCTGCCGAGGGGGCACCACCAAGGTCTTCTTAGTTGGGGACTACTCCTCGTCAGCCGAA
TTCTTTGTCACCGTGGCCGTGTTTGCCTTCCTCTACTCCATGGGGGCTCTGGCCACCTACATCTTCCTGCAGAACAAGTACCGAGAGAATAACAAAGGGCCCATG
CTGGACTTTCTGGCCACGGCTGTGTTCGCCTTCATGTGGCTAGTTAGCTCATCGGCATGGGCCAAGGGGCTGTCAGATGTGAAGATGGCCACAGACCCAGAGAAC
ATTATCAAGGAGATGCCTGTCTGCCGCCAGACAGGGAACACATGCAAGGAGCTGAGAGACCCTGTGACCTCGGGACTCAACACCTCGGTGGTGTTCGGCTTCCTG
AACCTGGTGCTCTGGGTCGGCAACCTGTGGTTCGTGTTTAAGGAGACAGGCTGGGCCGCCCCGTTCCTGCGCGCGCCTCCCGGCGCCCCCGAGAAACAACCGGCA
CCCGGGGACGCCTACGGCGATGCAGGCTACGGGCAGGGCCCCGGCGGGTACGGGCCCCAGGATTCCTACGGGCCTCAGGGCGGCTACCAGCCTGACTATGGTCAA
CCAGCCGGCAGCGGTGGCAGTGGCTACGGGCCTCAGGGCGACTATGGGCAGCAAGGCTACGGCCCGCAGGGTGCACCCACCTCCTTCTCCAATCAGATGTAG


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>SYP|6855|protein
MLLLADMDVVNQLVAGGQFRVVKEPLGFVKVLQWVFAIFAFATCGSYSGELQLSVDCANKTESDLSIEVEFEYPFRLHQVYFDAPTCRGGTTKVFLVGDYSSSAE
FFVTVAVFAFLYSMGALATYIFLQNKYRENNKGPMLDFLATAVFAFMWLVSSSAWAKGLSDVKMATDPENIIKEMPVCRQTGNTCKELRDPVTSGLNTSVVFGFL
NLVLWVGNLWFVFKETGWAAPFLRAPPGAPEKQPAPGDAYGDAGYGQGPGGYGPQDSYGPQGGYQPDYGQPAGSGGSGYGPQGDYGQQGYGPQGAPTSFSNQM


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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 0 (0) 1 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Chung, 2011 - SNP microarrayASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

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  (e.g. CHD8)

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