AutismKB 2.0

Evidence Details for EVPL


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Basic Information Top
Gene Symbol:EVPL ( EVPK )
Gene Full Name: envoplakin
Band: 17q25.1
Quick LinksEntrez ID:2125; OMIM: 601590; Uniprot ID:EVPL_HUMAN; ENSEMBL ID: ENSG00000167880; HGNC ID: 3503
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EVPL|2125|nucleotide
ATGTTCAAGGGGCTGAGCAAAGGCTCCCAGGGGAAGGGGTCCCCCAAGGGCTCCCCCGCCAAGGGGTCCCCCAAAGGCTCCCCCAGCAGGCACAGCCGGGCTGCC
ACCCAGGAGCTGGCCCTTCTCATCTCCCGCATGCAAGCCAACGCCGACCAGGTGGAGCGGGACATCCTGGAGACGCAGAAGAGGCTGCAGCAGGACCGGCTGAAC
AGTGAGCAGAGCCAGGCCCTGCAGCACCAGCAGGAGACGGGCCGCAGCCTGAAGGAGGCTGAGGTGCTGCTCAAGGACCTCTTCCTGGACGTGGACAAGGCCCGG
CGGCTCAAGCACCCGCAGGCTGAGGAGATTGAGAAGGACATCAAGCAGCTGCACGAGCGGGTGACCCAGGAGTGTGCGGAGTACCGTGCCCTGTACGAGAAGATG
GTGCTGCCCCCCGACGTGGGACCCAGGGTCGACTGGGCACGCGTGCTGGAGCAGAAACAGAAGCAGGTCTGCGCAGGCCAGTACGGGCCGGGCATGGCGGAGCTG
GAGCAACAGATCGCCGAGCACAACATCCTGCAGAAGGAGATCGACGCCTATGGGCAGCAGCTGCGGAGCCTCGTGGGGCCGGATGCAGCCACCATCCGGAGCCAA
TACCGAGACCTACTGAAGGCGGCGTCGTGGCGCGGGCAGAGCCTGGGCAGCCTGTACACGCACCTCCAGGGCTGCACGCGGCAGCTGAGCGCCCTGGCTGAGCAG
CAGCGCCGCATCCTGCAGCAGGACTGGAGCGACCTCATGGCCGACCCTGCGGGCGTGCGGCGGGAGTACGAGCACTTCAAGCAGCACGAGCTGCTGAGCCAGGAG
CAGAGCGTGAACCAGCTGGAGGACGACGGCGAGCGCATGGTGGAGCTGCGGCACCCCGCGGTGGGGCCCATCCAGGCCCACCAGGAGGCCCTGAAGATGGAGTGG
CAGAACTTCCTGAACCTGTGTATCTGCCAGGAGACCCAGCTGCAGCACGTGGAGGACTACCGCCGGTTCCAGGAAGAGGCCGACTCAGTCAGCCAGACCCTGGCG
AAGCTCAACTCCAACTTGGATGCCAAGTACAGCCCTGCACCTGGGGGCCCCCCTGGCGCCCCCACAGAGCTGCTGCAACAGCTGGAGGCAGAGGAAAAACGGCTG
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>EVPL|2125|protein
MFKGLSKGSQGKGSPKGSPAKGSPKGSPSRHSRAATQELALLISRMQANADQVERDILETQKRLQQDRLNSEQSQALQHQQETGRSLKEAEVLLKDLFLDVDKAR
RLKHPQAEEIEKDIKQLHERVTQECAEYRALYEKMVLPPDVGPRVDWARVLEQKQKQVCAGQYGPGMAELEQQIAEHNILQKEIDAYGQQLRSLVGPDAATIRSQ
YRDLLKAASWRGQSLGSLYTHLQGCTRQLSALAEQQRRILQQDWSDLMADPAGVRREYEHFKQHELLSQEQSVNQLEDDGERMVELRHPAVGPIQAHQEALKMEW
QNFLNLCICQETQLQHVEDYRRFQEEADSVSQTLAKLNSNLDAKYSPAPGGPPGAPTELLQQLEAEEKRLAVTERATGDLQRRSRDVAPLPQRRNPPQQPLHVDS
ICDWDSGEVQLLQGERYKLVDNTDPHAWVVQGPGGETKRAPAACFCIPAPDPDAVARASRLASELQALKQKLATVQSRLKASAVESLRPSQQAPSGSDLANPQAQ
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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 (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