AutismKB 2.0

Evidence Details for ELFN2


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Basic Information Top
Gene Symbol:ELFN2 ( KIAA1904,LRRC62,dJ63G5.3 )
Gene Full Name: extracellular leucine-rich repeat and fibronectin type III domain containing 2
Band: 22q13.1
Quick LinksEntrez ID:114794; OMIM: NA; Uniprot ID:LRFN6_HUMAN; ENSEMBL ID: ENSG00000166897; HGNC ID: 29396
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELFN2|114794|nucleotide
ATGCTGCGCCTGGGGCTGTGCGCGGCGGCGCTGCTGTGCGTGTGCCGGCCGGGTGCCGTGCGTGCCGACTGCTGGCTCATTGAGGGCGACAAGGGCTACGTGTGG
CTGGCCATCTGCAGCCAGAACCAGCCGCCCTACGAGACCATCCCGCAGCACATCAATAGCACCGTGCACGACCTGCGGCTCAACGAGAACAAGCTCAAAGCCGTG
CTCTACTCCTCGCTCAACCGCTTTGGGAACCTCACCGACCTCAACCTCACCAAGAACGAGATCTCCTACATCGAGGACGGTGCCTTCCTGGGCCAGTCGAGCCTG
CAGGTCCTGCAGCTGGGCTACAACAAGCTCAGCAACCTGACGGAGGGCATGCTGCGAGGCATGAGCCGCCTGCAGTTCCTCTTTGTCCAGCACAACCTCATCGAG
GTGGTGACGCCCACCGCCTTCTCCGAGTGCCCGAGCCTCATCAGCATCGACCTGTCCTCCAACCGCCTCAGCCGCCTGGACGGTGCCACCTTTGCCAGCCTCGCC
AGCCTGATGGTGTGTGAGCTGGCCGGCAACCCCTTCAACTGTGAGTGCGACCTCTTCGGCTTCCTGGCCTGGCTGGTGGTCTTCAACAACGTCACCAAGAACTAC
GACCGCCTGCAGTGTGAGTCGCCGCGGGAGTTTGCCGGCTACCCGCTGCTGGTGCCCCGGCCCTACCACAGCCTCAACGCCATCACCGTACTCCAGGCCAAGTGT
CGGAATGGCTCGCTGCCCGCCCGGCCCGTGAGCCACCCCACGCCCTACTCCACCGACGCCCAGAGGGAGCCAGACGAGAACTCGGGCTTCAACCCCGACGAGATC
CTTTCGGTGGAGCCGCCGGCCTCGTCCACCACGGATGCGTCGGCAGGGCCAGCCATCAAGCTGCACCACGTCACGTTCACCTCGGCCACCCTGGTGGTCATCATC
CCACACCCCTACAGCAAGATGTACATCCTCGTGCAGTACAACAACAGCTACTTCTCCGACGTCATGACCCTCAAGAACAAGAAGGAGATCGTGACGCTGGACAAA
CTGCGGGCGCACACTGAGTACACCTTCTGCGTGACCTCGCTGCGCAACAGCCGCCGCTTCAACCACACCTGCCTGACCTTCACCACGCGGGACCCCGTCCCCGGA
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>ELFN2|114794|protein
MLRLGLCAAALLCVCRPGAVRADCWLIEGDKGYVWLAICSQNQPPYETIPQHINSTVHDLRLNENKLKAVLYSSLNRFGNLTDLNLTKNEISYIEDGAFLGQSSL
QVLQLGYNKLSNLTEGMLRGMSRLQFLFVQHNLIEVVTPTAFSECPSLISIDLSSNRLSRLDGATFASLASLMVCELAGNPFNCECDLFGFLAWLVVFNNVTKNY
DRLQCESPREFAGYPLLVPRPYHSLNAITVLQAKCRNGSLPARPVSHPTPYSTDAQREPDENSGFNPDEILSVEPPASSTTDASAGPAIKLHHVTFTSATLVVII
PHPYSKMYILVQYNNSYFSDVMTLKNKKEIVTLDKLRAHTEYTFCVTSLRNSRRFNHTCLTFTTRDPVPGDLAPSTSTTTHYIMTILGCLFGMVIVLGAVYYCLR
KRRMQEEKQKSVNVKKTILEMRYGADVDAGSIVHAAQKLGEPPVLPVSRMASIPSMIGEKLPTAKGLEAGLDTPKVATKGNYIEVRTGAGGDGLARPEDDLPDLE
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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