AutismKB 2.0

Evidence Details for SYNGR1


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Basic Information Top
Gene Symbol:SYNGR1 ( MGC:1939 )
Gene Full Name: synaptogyrin 1
Band: 22q13.1
Quick LinksEntrez ID:9145; OMIM: 603925; Uniprot ID:SNG1_HUMAN; ENSEMBL ID: ENSG00000100321; HGNC ID: 11498
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SYNGR1|9145|nucleotide
ATGGAAGGGGGTGCGTACGGAGCGGGCAAAGCCGGGGGCGCCTTCGACCCCTACACCCTGGTCCGGCAGCCGCACACCATCCTGCGCGTCGTGTCTTGGCTGTTC
TCCATAGTGGTGTTCGGCTCCATCGTGAACGAGGGCTACCTCAACAGCGCCTCCGAGGGGGAGGAGTTCTGCATCTACAACCGCAACCCCAACGCCTGCAGCTAT
GGCGTGGCCGTGGGCGTGCTCGCCTTCCTCACCTGCCTGCTGTACCTGGCCCTGGACGTGTACTTCCCGCAGATCAGCAGCGTCAAGGACCGCAAGAAAGCCGTC
CTGTCCGACATCGGTGTCTCGGCCTTCTGGGCTTTCCTCTGGTTCGTGGGATTCTGCTACCTGGCCAACCAGTGGCAGGTCTCCAAGCCCAAGGACAACCCACTG
AACGAAGGGACGGACGCAGCCCGGGCCGCCATCGCCTTCTCCTTTTTCTCCATCTTCACCTGGGCGGGCCAGGCTGTGCTGGCCTTCCAGCGGTACCAGATTGGC
GCCGACTCGGCCCTCTTCTCCCAGGACTACATGGACCCCAGCCAGGACTCCAGCATGCCTTACGCGCCCTACGTGGAGCCCACTGGGCCGGATCCCGCCGGTATG
GGCGGCACCTACCAGCAGCCGGCCAACACCTTCGACACCGAGCCCCAGGGCTACCAGTCGCAGGGCTACTGA




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>SYNGR1|9145|protein
MEGGAYGAGKAGGAFDPYTLVRQPHTILRVVSWLFSIVVFGSIVNEGYLNSASEGEEFCIYNRNPNACSYGVAVGVLAFLTCLLYLALDVYFPQISSVKDRKKAV
LSDIGVSAFWAFLWFVGFCYLANQWQVSKPKDNPLNEGTDAARAAIAFSFFSIFTWAGQAVLAFQRYQIGADSALFSQDYMDPSQDSSMPYAPYVEPTGPDPAGM
GGTYQQPANTFDTEPQGYQSQGY


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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) No 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top