Evidence Details for SYPL1
Basic Information Top
Gene Symbol: | SYPL1 ( H-SP1,SYPL ) |
---|---|
Gene Full Name: | synaptophysin-like 1 |
Band: | 7q22.2 |
Quick Links | Entrez 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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ATGGCGCCCAACATCTACTTGGTTCGCCAGCGGATCAGTCGACTCGGCCAGAGGATGTCCGGCTTCCAGATCAACCTCAACCCGCTCAAGGAGCCACTCGGCTTC
ATCAAGGTCCTCGAGTGGATTGCTTCTATCTTTGCTTTTGCCACCTGTGGAGGTTTTAAGGGCCAAACAGAAATTCAAGTGAATTGTCCTCCTGCAGTTACTGAG
AATAAAACTGTTACAGCTACTTTTGGTTATCCATTCAGGTTGAATGAGGCATCATTTCAGCCACCTCCAGGTGTAAACATATGTGATGTAAATTGGAAAGATTAC
GTCCTCATAGGCGATTACTCTTCTTCTGCACAATTCTATGTTACCTTTGCAGTCTTTGTGTTCCTGTACTGCATTGCTGCCCTTCTGCTTTATGTTGGCTACACG
AGTCTGTATCTGGATAGTCGTAAACTTCCTATGATAGACTTTGTTGTTACACTTGTTGCCACTTTTTTGTGGTTGGTGAGCACTTCAGCCTGGGCTAAAGCTCTG
ACAGATATTAAAATAGCTACTGGTCACAATATTATTGATGAACTTCCGCCTTGTAAGAAGAAAGCAGTACTGTGTTACTTTGGCTCTGTGACCAGTATGGGATCC
CTAAATGTATCTGTGATATTTGGCTTTCTAAATATGATACTCTGGGGAGGAAATGCTTGGTTTGTGTACAAGGAGACCAGCCTACACAGTCCATCAAATACATCT
GCCCCTCATAGCCAAGGAGGTATTCCACCTCCTACCGGAATATAA
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>SYPL1|6856|protein
MAPNIYLVRQRISRLGQRMSGFQINLNPLKEPLGFIKVLEWIASIFAFATCGGFKGQTEIQVNCPPAVTENKTVTATFGYPFRLNEASFQPPPGVNICDVNWKDY
VLIGDYSSSAQFYVTFAVFVFLYCIAALLLYVGYTSLYLDSRKLPMIDFVVTLVATFLWLVSTSAWAKALTDIKIATGHNIIDELPPCKKKAVLCYFGSVTSMGS
LNVSVIFGFLNMILWGGNAWFVYKETSLHSPSNTSAPHSQGGIPPPTGI
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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
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
CAUCASIAN | ||||||||||
Bonora, 2005_1 | IMGSAC | ABI377 sequencing machines | 207 | 438 (20.32%) | ASD | - - |
- - |
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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