AutismKB 2.0

Evidence Details for SYPL1


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Basic Information Top
Gene Symbol:SYPL1 ( H-SP1,SYPL )
Gene Full Name: synaptophysin-like 1
Band: 7q22.2
Quick LinksEntrez ID:6856; OMIM: NA; Uniprot ID:SYPL1_HUMAN; ENSEMBL ID: ENSG00000008282; HGNC ID: 11507
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SYPL1|6856|nucleotide
ATGGCGCCCAACATCTACTTGGTTCGCCAGCGGATCAGTCGACTCGGCCAGAGGATGTCCGGCTTCCAGATCAACCTCAACCCGCTCAAGGAGCCACTCGGCTTC
ATCAAGGTCCTCGAGTGGATTGCTTCTATCTTTGCTTTTGCCACCTGTGGAGGTTTTAAGGGCCAAACAGAAATTCAAGTGAATTGTCCTCCTGCAGTTACTGAG
AATAAAACTGTTACAGCTACTTTTGGTTATCCATTCAGGTTGAATGAGGCATCATTTCAGCCACCTCCAGGTGTAAACATATGTGATGTAAATTGGAAAGATTAC
GTCCTCATAGGCGATTACTCTTCTTCTGCACAATTCTATGTTACCTTTGCAGTCTTTGTGTTCCTGTACTGCATTGCTGCCCTTCTGCTTTATGTTGGCTACACG
AGTCTGTATCTGGATAGTCGTAAACTTCCTATGATAGACTTTGTTGTTACACTTGTTGCCACTTTTTTGTGGTTGGTGAGCACTTCAGCCTGGGCTAAAGCTCTG
ACAGATATTAAAATAGCTACTGGTCACAATATTATTGATGAACTTCCGCCTTGTAAGAAGAAAGCAGTACTGTGTTACTTTGGCTCTGTGACCAGTATGGGATCC
CTAAATGTATCTGTGATATTTGGCTTTCTAAATATGATACTCTGGGGAGGAAATGCTTGGTTTGTGTACAAGGAGACCAGCCTACACAGTCCATCAAATACATCT
GCCCCTCATAGCCAAGGAGGTATTCCACCTCCTACCGGAATATAA



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>SYPL1|6856|protein
MAPNIYLVRQRISRLGQRMSGFQINLNPLKEPLGFIKVLEWIASIFAFATCGGFKGQTEIQVNCPPAVTENKTVTATFGYPFRLNEASFQPPPGVNICDVNWKDY
VLIGDYSSSAQFYVTFAVFVFLYCIAALLLYVGYTSLYLDSRKLPMIDFVVTLVATFLWLVSTSAWAKALTDIKIATGHNIIDELPPCKKKAVLCYFGSVTSMGS
LNVSVIFGFLNMILWGGNAWFVYKETSLHSPSNTSAPHSQGGIPPPTGI


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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 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 6 (3)
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
Maestrini, 2009_2 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127 127
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Maestrini, 2009_5 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127
(20.47%)
ASD -
-
- 188
(21.28%)
-
-
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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

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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