AutismKB 2.0

Evidence Details for EMILIN3


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Basic Information Top
Gene Symbol:EMILIN3 ( C20orf130,DKFZp434A2410,EMILIN5,dJ620E11.4 )
Gene Full Name: elastin microfibril interfacer 3
Band: 20q12
Quick LinksEntrez ID:90187; OMIM: 608929; Uniprot ID:EMIL3_HUMAN; ENSEMBL ID: ENSG00000183798; HGNC ID: 16123
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EMILIN3|90187|nucleotide
ATGGGCCGCCGCCGCCTGCTCGTCTGGCTGTGCGCCGTCGCGGCGCTGCTCTCGGGGGCGCAGGCCAGGGGCACCCCGCTCCTGGCGCGGCCTGCGCCGCCCGGT
GCCTCCCGCTACAGTCTCTACACGACGGGATGGCGCCCGCGGCTGCGCCCGGGGCCGCACAAGGCCCTCTGTGCCTATGTGGTGCACAGGAATGTGACCTGCATC
CTACAGGAGGGAGCGGAGAGCTACGTAAAGGCTGAATACCGGCAGTGTAGATGGGGGCCCAAGTGCCCCGGGACAGTCACGTACCGCACAGTACTCAGACCCAAA
TACAAGGTTGGCTACAAGACAGTGACAGACCTCGCCTGGCGTTGCTGTCCCGGCTTCACTGGGAAACGCTGCCCTGAGCACCTCACGGACCATGGGGCTGCCTCA
CCCCAGCTGGAGCCTGAGCCTCAGATTCCTTCAGGGCAGCTGGACCCAGGCCCCAGGCCCCCTTCCTACAGCAGAGCAGCCCCCAGCCCTCATGGAAGGAAAGGC
CCAGGGCTGTTTGGTGAGCGGCTGGAACGCCTGGAGGGTGATGTCCAGCGCCTGGCTCAAACATATGGTACCCTCAGTGGCCTGGTGGCTAGCCACGAGGATCCC
AACAGGATGACTGGTGGCCCCAGGGCTCCTGCTGTCCCTGTGGGCTTTGGGGTCATCCCTGAGGGGCTTGTGGGCCCAGGAGACAGAGCCAGAGGGCCACTAACA
CCTCCCTTAGACGAGATCCTAAGCAAGGTGACAGAGGTGAGCAACACTCTTCAGACCAAGGTGCAGCTTCTAGACAAGGTGCATGGGCTGGCACTTGGCCATGAG
GCCCACCTGCAGCGGCTGCGGGAAGCCCCACCATCCCCGCTCACCTCCCTGGCCCTGCTGGAGGAGTACGTGGACCGACGGCTGCACCGACTCTGGGGGAGCCTG
CTGGATGGCTTTGAGCAGAAGCTGCAAGGCGTCCAGAGTGAGTGTGACCTGCGGGTGCAGGAGGTACGGCGGCAATGTGAGGAGGGTCAGGCCGCCAGCCGGAGG
CTGCACCAGAGCCTTGATGGCCGGGAGCTGGCCCTGCGCCAGGAGCTGTCACAGCTGGGCAGCCAGCTGCAGGGCCTGAGCGTGTCTGGCAGGGGCAGCTGCTGT
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>EMILIN3|90187|protein
MGRRRLLVWLCAVAALLSGAQARGTPLLARPAPPGASRYSLYTTGWRPRLRPGPHKALCAYVVHRNVTCILQEGAESYVKAEYRQCRWGPKCPGTVTYRTVLRPK
YKVGYKTVTDLAWRCCPGFTGKRCPEHLTDHGAASPQLEPEPQIPSGQLDPGPRPPSYSRAAPSPHGRKGPGLFGERLERLEGDVQRLAQTYGTLSGLVASHEDP
NRMTGGPRAPAVPVGFGVIPEGLVGPGDRARGPLTPPLDEILSKVTEVSNTLQTKVQLLDKVHGLALGHEAHLQRLREAPPSPLTSLALLEEYVDRRLHRLWGSL
LDGFEQKLQGVQSECDLRVQEVRRQCEEGQAASRRLHQSLDGRELALRQELSQLGSQLQGLSVSGRGSCCGQLALINARMDGLERALQAVTETQRGPGAPAGDEL
TRLSAAMLEGGVDGLLEGLETLNGTEGGARGCCLRLDMGGWGVGGFGTMLEERVQSLEERLATLAGELSHDSASPGRSARPLVQTELAVLEQRLVSLETSCTPST
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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) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top