Evidence Details for EVPL
Basic Information Top
| Gene Symbol: | EVPL ( EVPK ) |
|---|---|
| Gene Full Name: | envoplakin |
| Band: | 17q25.1 |
| Quick Links | Entrez 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
Show »
ATGTTCAAGGGGCTGAGCAAAGGCTCCCAGGGGAAGGGGTCCCCCAAGGGCTCCCCCGCCAAGGGGTCCCCCAAAGGCTCCCCCAGCAGGCACAGCCGGGCTGCC
ACCCAGGAGCTGGCCCTTCTCATCTCCCGCATGCAAGCCAACGCCGACCAGGTGGAGCGGGACATCCTGGAGACGCAGAAGAGGCTGCAGCAGGACCGGCTGAAC
AGTGAGCAGAGCCAGGCCCTGCAGCACCAGCAGGAGACGGGCCGCAGCCTGAAGGAGGCTGAGGTGCTGCTCAAGGACCTCTTCCTGGACGTGGACAAGGCCCGG
CGGCTCAAGCACCCGCAGGCTGAGGAGATTGAGAAGGACATCAAGCAGCTGCACGAGCGGGTGACCCAGGAGTGTGCGGAGTACCGTGCCCTGTACGAGAAGATG
GTGCTGCCCCCCGACGTGGGACCCAGGGTCGACTGGGCACGCGTGCTGGAGCAGAAACAGAAGCAGGTCTGCGCAGGCCAGTACGGGCCGGGCATGGCGGAGCTG
GAGCAACAGATCGCCGAGCACAACATCCTGCAGAAGGAGATCGACGCCTATGGGCAGCAGCTGCGGAGCCTCGTGGGGCCGGATGCAGCCACCATCCGGAGCCAA
TACCGAGACCTACTGAAGGCGGCGTCGTGGCGCGGGCAGAGCCTGGGCAGCCTGTACACGCACCTCCAGGGCTGCACGCGGCAGCTGAGCGCCCTGGCTGAGCAG
CAGCGCCGCATCCTGCAGCAGGACTGGAGCGACCTCATGGCCGACCCTGCGGGCGTGCGGCGGGAGTACGAGCACTTCAAGCAGCACGAGCTGCTGAGCCAGGAG
CAGAGCGTGAACCAGCTGGAGGACGACGGCGAGCGCATGGTGGAGCTGCGGCACCCCGCGGTGGGGCCCATCCAGGCCCACCAGGAGGCCCTGAAGATGGAGTGG
CAGAACTTCCTGAACCTGTGTATCTGCCAGGAGACCCAGCTGCAGCACGTGGAGGACTACCGCCGGTTCCAGGAAGAGGCCGACTCAGTCAGCCAGACCCTGGCG
AAGCTCAACTCCAACTTGGATGCCAAGTACAGCCCTGCACCTGGGGGCCCCCCTGGCGCCCCCACAGAGCTGCTGCAACAGCTGGAGGCAGAGGAAAAACGGCTG
Show »
>EVPL|2125|protein
MFKGLSKGSQGKGSPKGSPAKGSPKGSPSRHSRAATQELALLISRMQANADQVERDILETQKRLQQDRLNSEQSQALQHQQETGRSLKEAEVLLKDLFLDVDKAR
RLKHPQAEEIEKDIKQLHERVTQECAEYRALYEKMVLPPDVGPRVDWARVLEQKQKQVCAGQYGPGMAELEQQIAEHNILQKEIDAYGQQLRSLVGPDAATIRSQ
YRDLLKAASWRGQSLGSLYTHLQGCTRQLSALAEQQRRILQQDWSDLMADPAGVRREYEHFKQHELLSQEQSVNQLEDDGERMVELRHPAVGPIQAHQEALKMEW
QNFLNLCICQETQLQHVEDYRRFQEEADSVSQTLAKLNSNLDAKYSPAPGGPPGAPTELLQQLEAEEKRLAVTERATGDLQRRSRDVAPLPQRRNPPQQPLHVDS
ICDWDSGEVQLLQGERYKLVDNTDPHAWVVQGPGGETKRAPAACFCIPAPDPDAVARASRLASELQALKQKLATVQSRLKASAVESLRPSQQAPSGSDLANPQAQ
Show »
MFKGLSKGSQGKGSPKGSPAKGSPKGSPSRHSRAATQELALLISRMQANADQVERDILETQKRLQQDRLNSEQSQALQHQQETGRSLKEAEVLLKDLFLDVDKAR
RLKHPQAEEIEKDIKQLHERVTQECAEYRALYEKMVLPPDVGPRVDWARVLEQKQKQVCAGQYGPGMAELEQQIAEHNILQKEIDAYGQQLRSLVGPDAATIRSQ
YRDLLKAASWRGQSLGSLYTHLQGCTRQLSALAEQQRRILQQDWSDLMADPAGVRREYEHFKQHELLSQEQSVNQLEDDGERMVELRHPAVGPIQAHQEALKMEW
QNFLNLCICQETQLQHVEDYRRFQEEADSVSQTLAKLNSNLDAKYSPAPGGPPGAPTELLQQLEAEEKRLAVTERATGDLQRRSRDVAPLPQRRNPPQQPLHVDS
ICDWDSGEVQLLQGERYKLVDNTDPHAWVVQGPGGETKRAPAACFCIPAPDPDAVARASRLASELQALKQKLATVQSRLKASAVESLRPSQQAPSGSDLANPQAQ
Show »
Evidence summary TopClick 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen |  | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.