Evidence Details for EPN2
Basic Information Top
| Gene Symbol: | EPN2 ( EHB21,KIAA1065 ) |
|---|---|
| Gene Full Name: | epsin 2 |
| Band: | 17p11.2 |
| Quick Links | Entrez ID:22905; OMIM: 607263; Uniprot ID:EPN2_HUMAN; ENSEMBL ID: ENSG00000072134; HGNC ID: 18639 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EPN2|22905|nucleotide
ATGAGCAGAGAAGTGGCTGAGCAGGAAGAACGCCTCAGGCGGGGTGATGACCTCAGATTACAGATGGCCCTGGAAGAAAGCCGAAGGGACACAGTTAAAATTCCA
AAAAAGAAAGAGCATGGCTCTCTCCCACAGCAGACTACGCTGTTGGATTTAATGGATGCTCTCCCCAGCTCGGGCCCCGCGGCCCAGAAAGCAGAGCCCTGGGGC
CCGTCAGCCTCCACTAACCAGACCAACCCCTGGGGCGGGCCAGCGGCTCCTGCGAGTACTTCAGACCCCTGGCCATCGTTTGGTACCAAGCCAGCTGCCTCCATT
GACCCATGGGGGGTGCCCACTGGAGCCACCGTACAATCTGTCCCCAAGAACTCGGACCCCTGGGCAGCTTCACAGCAGCCTGCCTCCAGTGCTGGGAAAAGAGCT
TCTGACGCGTGGGGCGCAGTCTCCACCACCAAGCCCGTGTCTGTCTCTGGGTCCTTTGAGCTCTTCAGTAATCTGAATGGTACAATTAAAGATGACTTTTCTGAA
TTTGACAACCTTCGGACTTCAAAAAAAACAGCCGAATCTGTGACCTCTCTGCCATCCCAAAACAATGGAACTACCAGCCCTGACCCCTTTGAGTCTCAACCCCTG
ACTGTCGCCTCAAGCAAGCCCAGCAGTGCCCGGAAAACACCTGAGTCCTTCCTGGGCCCCAACGCGGCCCTGGTGAACCTGGACTCACTGGTGACCAGGCCTGCC
CCACCAGCCCAGTCCCTCAACCCTTTCCTGGCACCAGGTGCTCCCGCCACCTCGGCCCCTGTTAACCCTTTCCAGGTGAACCAGCCCCAGCCGCTGACACTGAAC
CAGCTTCGGGGGAGCCCAGTCCTGGGGACCAGCACATCCTTTGGGCCTGGCCCAGGAGTGGAGTCCATGGCTGTGGCCTCGATGACCTCCGCGGCCCCACAGCCA
GCTCTGGGGGCCACTGGTTCCTCTCTGACACCACTGGGCCCTGCAATGATGAACATGGTGGGCAGTGTGGGTATACCCCCATCAGCAGCCCAGGCCACTGGCACA
ACCAACCCTTTCCTTCTCTAG
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ATGAGCAGAGAAGTGGCTGAGCAGGAAGAACGCCTCAGGCGGGGTGATGACCTCAGATTACAGATGGCCCTGGAAGAAAGCCGAAGGGACACAGTTAAAATTCCA
AAAAAGAAAGAGCATGGCTCTCTCCCACAGCAGACTACGCTGTTGGATTTAATGGATGCTCTCCCCAGCTCGGGCCCCGCGGCCCAGAAAGCAGAGCCCTGGGGC
CCGTCAGCCTCCACTAACCAGACCAACCCCTGGGGCGGGCCAGCGGCTCCTGCGAGTACTTCAGACCCCTGGCCATCGTTTGGTACCAAGCCAGCTGCCTCCATT
GACCCATGGGGGGTGCCCACTGGAGCCACCGTACAATCTGTCCCCAAGAACTCGGACCCCTGGGCAGCTTCACAGCAGCCTGCCTCCAGTGCTGGGAAAAGAGCT
TCTGACGCGTGGGGCGCAGTCTCCACCACCAAGCCCGTGTCTGTCTCTGGGTCCTTTGAGCTCTTCAGTAATCTGAATGGTACAATTAAAGATGACTTTTCTGAA
TTTGACAACCTTCGGACTTCAAAAAAAACAGCCGAATCTGTGACCTCTCTGCCATCCCAAAACAATGGAACTACCAGCCCTGACCCCTTTGAGTCTCAACCCCTG
ACTGTCGCCTCAAGCAAGCCCAGCAGTGCCCGGAAAACACCTGAGTCCTTCCTGGGCCCCAACGCGGCCCTGGTGAACCTGGACTCACTGGTGACCAGGCCTGCC
CCACCAGCCCAGTCCCTCAACCCTTTCCTGGCACCAGGTGCTCCCGCCACCTCGGCCCCTGTTAACCCTTTCCAGGTGAACCAGCCCCAGCCGCTGACACTGAAC
CAGCTTCGGGGGAGCCCAGTCCTGGGGACCAGCACATCCTTTGGGCCTGGCCCAGGAGTGGAGTCCATGGCTGTGGCCTCGATGACCTCCGCGGCCCCACAGCCA
GCTCTGGGGGCCACTGGTTCCTCTCTGACACCACTGGGCCCTGCAATGATGAACATGGTGGGCAGTGTGGGTATACCCCCATCAGCAGCCCAGGCCACTGGCACA
ACCAACCCTTTCCTTCTCTAG
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>EPN2|22905|protein
MSREVAEQEERLRRGDDLRLQMALEESRRDTVKIPKKKEHGSLPQQTTLLDLMDALPSSGPAAQKAEPWGPSASTNQTNPWGGPAAPASTSDPWPSFGTKPAASI
DPWGVPTGATVQSVPKNSDPWAASQQPASSAGKRASDAWGAVSTTKPVSVSGSFELFSNLNGTIKDDFSEFDNLRTSKKTAESVTSLPSQNNGTTSPDPFESQPL
TVASSKPSSARKTPESFLGPNAALVNLDSLVTRPAPPAQSLNPFLAPGAPATSAPVNPFQVNQPQPLTLNQLRGSPVLGTSTSFGPGPGVESMAVASMTSAAPQP
ALGATGSSLTPLGPAMMNMVGSVGIPPSAAQATGTTNPFLL
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MSREVAEQEERLRRGDDLRLQMALEESRRDTVKIPKKKEHGSLPQQTTLLDLMDALPSSGPAAQKAEPWGPSASTNQTNPWGGPAAPASTSDPWPSFGTKPAASI
DPWGVPTGATVQSVPKNSDPWAASQQPASSAGKRASDAWGAVSTTKPVSVSGSFELFSNLNGTIKDDFSEFDNLRTSKKTAESVTSLPSQNNGTTSPDPFESQPL
TVASSKPSSARKTPESFLGPNAALVNLDSLVTRPAPPAQSLNPFLAPGAPATSAPVNPFQVNQPQPLTLNQLRGSPVLGTSTSFGPGPGVESMAVASMTSAAPQP
ALGATGSSLTPLGPAMMNMVGSVGIPPSAAQATGTTNPFLL
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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) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Potocki, 2007 | - | aCGH |  | | autism | - | - | - | - | 1 | - | 1 |
| Nakamine, 2008 | Costa Rica | SNP microarray | | | autsim | - | - | - | - | 1 | - | 1 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top