AutismKB 2.0

Evidence Details for LRFN1


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Basic Information Top
Gene Symbol:LRFN1 ( KIAA1484,SALM2 )
Gene Full Name: leucine rich repeat and fibronectin type III domain containing 1
Band: 19q13.2
Quick LinksEntrez ID:57622; OMIM: 612807; Uniprot ID:LRFN1_HUMAN; ENSEMBL ID: ENSG00000128011; HGNC ID: 29290
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRFN1|57622|nucleotide
ATGGCTCCAGGACCCTTCTCCTCGGCCCTCCTCTCGCCGCCGCCCGCTGCCCTGCCCTTTCTGCTGCTGCTCTGGGCGGGGGCATCTCGTGGCCAGCCCTGCCCC
GGCCGCTGCATCTGCCAGAACGTGGCGCCCACACTGACAATGCTGTGCGCCAAGACCGGCTTGCTCTTTGTGCCGCCCGCCATCGACCGGCGCGTGGTGGAGCTG
CGGCTCACCGACAACTTCATCGCCGCCGTGCGCCGCCGAGACTTCGCCAACATGACCAGCCTGGTGCACCTCACTCTCTCCCGGAACACCATCGGCCAGGTGGCA
GCTGGCGCCTTCGCCGACCTGCGTGCCCTCCGGGCCCTGCACCTGGACAGCAACCGCCTGGCGGAGGTGCGCGGCGACCAGCTCCGCGGCCTGGGCAACCTCCGC
CACCTGATCCTTGGAAACAACCAGATCCGCCGGGTGGAGTCGGCGGCCTTTGACGCCTTCCTGTCCACCGTGGAGGACCTGGATCTGTCCTACAACAACCTGGAG
GCCCTGCCGTGGGAGGCGGTGGGCCAGATGGTGAACCTAAACACCCTCACGCTGGACCACAACCTCATCGACCACATCGCGGAGGGGACCTTCGTGCAGCTTCAC
AAGCTGGTCCGTCTGGACATGACCTCCAACCGCCTGCATAAACTCCCGCCCGACGGGCTCTTCCTGAGGTCGCAGGGCACCGGGCCCAAGCCGCCCACCCCGCTG
ACCGTCAGCTTCGGCGGCAACCCCCTGCACTGCAACTGCGAGCTGCTCTGGCTGCGGCGGCTGACCCGCGAGGACGACTTAGAGACCTGCGCCACGCCCGAACAC
CTCACCGACCGCTACTTCTGGTCCATCCCCGAGGAGGAGTTCCTGTGTGAGCCCCCGCTGATCACACGGCAGGCGGGGGGCCGGGCCCTGGTGGTGGAAGGCCAG
GCGGTGAGCCTGCGCTGCCGAGCGGTGGGTGACCCCGAGCCGGTGGTGCACTGGGTGGCACCTGATGGGCGGCTGCTGGGGAACTCCAGCCGGACCCGGGTCCGG
GGGGACGGGACGCTGGATGTGACCATCACCACCTTGAGGGACAGTGGCACCTTCACTTGTATCGCCTCCAATGCTGCTGGGGAAGCGACGGCGCCCGTGGAGGTG
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>LRFN1|57622|protein
MAPGPFSSALLSPPPAALPFLLLLWAGASRGQPCPGRCICQNVAPTLTMLCAKTGLLFVPPAIDRRVVELRLTDNFIAAVRRRDFANMTSLVHLTLSRNTIGQVA
AGAFADLRALRALHLDSNRLAEVRGDQLRGLGNLRHLILGNNQIRRVESAAFDAFLSTVEDLDLSYNNLEALPWEAVGQMVNLNTLTLDHNLIDHIAEGTFVQLH
KLVRLDMTSNRLHKLPPDGLFLRSQGTGPKPPTPLTVSFGGNPLHCNCELLWLRRLTREDDLETCATPEHLTDRYFWSIPEEEFLCEPPLITRQAGGRALVVEGQ
AVSLRCRAVGDPEPVVHWVAPDGRLLGNSSRTRVRGDGTLDVTITTLRDSGTFTCIASNAAGEATAPVEVCVVPLPLMAPPPAAPPPLTEPGSSDIATPGRPGAN
DSAAERRLVAAELTSNSVLIRWPAQRPVPGIRMYQVQYNSSVDDSLVYRMIPSTSQTFLVNDLAAGRAYDLCVLAVYDDGATALPATRVVGCVQFTTAGDPAPCR
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top