AutismKB 2.0

Evidence Details for GSN


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Basic Information Top
Gene Symbol:GSN ( DKFZp313L0718 )
Gene Full Name: gelsolin
Band: 9q33.2
Quick LinksEntrez ID:2934; OMIM: 137350; Uniprot ID:GELS_HUMAN; ENSEMBL ID: ENSG00000148180; HGNC ID: 4620
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GSN|2934|nucleotide
ATGGCTCCGCACCGCCCCGCGCCCGCGCTGCTTTGCGCGCTGTCCCTGGCGCTGTGCGCGCTGTCGCTGCCCGTCCGCGCGGCCACTGCGTCGCGGGGGGCGTCC
CAGGCGGGGGCGCCCCAGGGGCGGGTGCCCGAGGCGCGGCCCAACAGCATGGTGGTGGAACACCCCGAGTTCCTCAAGGCAGGGAAGGAGCCTGGCCTGCAGATC
TGGCGTGTGGAGAAGTTCGATCTGGTGCCCGTGCCCACCAACCTTTATGGAGACTTCTTCACGGGCGACGCCTACGTCATCCTGAAGACAGTGCAGCTGAGGAAC
GGAAATCTGCAGTATGACCTCCACTACTGGCTGGGCAATGAGTGCAGCCAGGATGAGAGCGGGGCGGCCGCCATCTTTACCGTGCAGCTGGATGACTACCTGAAC
GGCCGGGCCGTGCAGCACCGTGAGGTCCAGGGCTTCGAGTCGGCCACCTTCCTAGGCTACTTCAAGTCTGGCCTGAAGTACAAGAAAGGAGGTGTGGCATCAGGA
TTCAAGCACGTGGTACCCAACGAGGTGGTGGTGCAGAGACTCTTCCAGGTCAAAGGGCGGCGTGTGGTCCGTGCCACCGAGGTACCTGTGTCCTGGGAGAGCTTC
AACAATGGCGACTGCTTCATCCTGGACCTGGGCAACAACATCCACCAGTGGTGTGGTTCCAACAGCAATCGGTATGAAAGACTGAAGGCCACACAGGTGTCCAAG
GGCATCCGGGACAACGAGCGGAGTGGCCGGGCCCGAGTGCACGTGTCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAGGTGCTGGGCCCCAAGCCGGCTCTG
CCTGCAGGTACCGAGGACACCGCCAAGGAGGATGCGGCCAACCGCAAGCTGGCCAAGCTCTACAAGGTCTCCAATGGTGCAGGGACCATGTCCGTCTCCCTCGTG
GCTGATGAGAACCCCTTCGCCCAGGGGGCCCTGAAGTCAGAGGACTGCTTCATCCTGGACCACGGCAAAGATGGGAAAATCTTTGTCTGGAAAGGCAAGCAGGCA
AACACGGAGGAGAGGAAGGCTGCCCTCAAAACAGCCTCTGACTTCATCACCAAGATGGACTACCCCAAGCAGACTCAGGTCTCGGTCCTTCCTGAGGGCGGTGAG
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>GSN|2934|protein
MAPHRPAPALLCALSLALCALSLPVRAATASRGASQAGAPQGRVPEARPNSMVVEHPEFLKAGKEPGLQIWRVEKFDLVPVPTNLYGDFFTGDAYVILKTVQLRN
GNLQYDLHYWLGNECSQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGYFKSGLKYKKGGVASGFKHVVPNEVVVQRLFQVKGRRVVRATEVPVSWESF
NNGDCFILDLGNNIHQWCGSNSNRYERLKATQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKEDAANRKLAKLYKVSNGAGTMSVSLV
ADENPFAQGALKSEDCFILDHGKDGKIFVWKGKQANTEERKAALKTASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDPDQTDGLGLSYLSSHIANVERV
PFDAATLHTSTAMAAQHGMDDDGTGQKQIWRIEGSNKVPVDPATYGQFYGGDSYIILYNYRHGGRQGQIIYNWQGAQSTQDEVAASAILTAQLDEELGGTPVQSR
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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) 0 (1) 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 2 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top