AutismKB 2.0

Evidence Details for EPN3


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Basic Information Top
Gene Symbol:EPN3 ( FLJ20778,MGC129899 )
Gene Full Name: epsin 3
Band: 17q21.33
Quick LinksEntrez ID:55040; OMIM: 607264; Uniprot ID:EPN3_HUMAN; ENSEMBL ID: ENSG00000049283; HGNC ID: 18235
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EPN3|55040|nucleotide
ATGACGACCTCCGCACTCCGGCGCCAGGTGAAGAACATCGTGCACAACTACTCCGAGGCAGAAATCAAGGTGCGCGAGGCCACCAGCAATGACCCCTGGGGCCCC
CCTAGTTCGCTCATGTCCGAGATCGCTGACCTGACCTTCAACACAGTGGCCTTCACCGAAGTCATGGGCATGCTGTGGCGGCGGCTCAATGACAGCGGCAAGAAC
TGGCGGCACGTGTACAAGGCTCTAACATTGCTGGACTACCTGCTCAAGACGGGCTCCGAGCGGGTGGCCCACCAGTGCCGCGAGAACCTCTACACCATCCAGACA
CTCAAGGACTTCCAGTACATCGACCGCGACGGCAAGGACCAGGGCGTCAACGTGCGCGAGAAGGTCAAGCAGGTGATGGCCCTGCTCAAGGATGAGGAGCGGCTG
CGGCAGGAGCGAACCCACGCCCTCAAGACCAAGGAGCGCATGGCACTGGAGGGCATCGGCATTGGCAGTGGGCAGCTGGGCTTCAGCCGCCGCTACGGCGAGGAC
TACAGCCGCTCCCGGGGCTCCCCGTCCTCCTACAACTCCTCCTCTTCGTCACCCCGCTATACCTCCGACCTGGAGCAGGCCCGGCCTCAGACGTCAGGGGAAGAG
GAACTGCAGCTGCAGCTGGCCCTCGCCATGAGCCGTGAGGAGGCAGAGAAGCCTGTCCCCCCAGCCTCCCACAGGGACGAGGACCTGCAGCTGCAGCTGGCTCTG
CGCCTGAGCCGGCAGGAGCACGAGAAGGAGGTGAGGTCCTGGCAGGGTGATGGCTCCCCCATGGCCAATGGTGCAGGGGCCGTGGTCCACCATCAGCGGGACAGA
GAGCCTGAGAGAGAAGAGAGAAAGGAGGAGGAGAAGCTAAAAACCAGCCAGTCCTCCATCCTGGACTTGGCTGACATCTTCGTACCTGCCCTGGCCCCGCCCTCC
ACACACTGCTCTGCTGACCCATGGGACATCCCAGGTTTTAGGCCGAACACAGAGGCCAGTGGATCCTCCTGGGGGCCTTCTGCAGACCCCTGGTCTCCGATCCCC
TCAGGAACCGTCCTGTCCCGAAGCCAGCCCTGGGATCTGACTCCCATGCTCTCCTCCTCTGAGCCCTGGGGCAGGACCCCAGTGCTGCCTGCTGGGCCCCCCACC
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>EPN3|55040|protein
MTTSALRRQVKNIVHNYSEAEIKVREATSNDPWGPPSSLMSEIADLTFNTVAFTEVMGMLWRRLNDSGKNWRHVYKALTLLDYLLKTGSERVAHQCRENLYTIQT
LKDFQYIDRDGKDQGVNVREKVKQVMALLKDEERLRQERTHALKTKERMALEGIGIGSGQLGFSRRYGEDYSRSRGSPSSYNSSSSSPRYTSDLEQARPQTSGEE
ELQLQLALAMSREEAEKPVPPASHRDEDLQLQLALRLSRQEHEKEVRSWQGDGSPMANGAGAVVHHQRDREPEREERKEEEKLKTSQSSILDLADIFVPALAPPS
THCSADPWDIPGFRPNTEASGSSWGPSADPWSPIPSGTVLSRSQPWDLTPMLSSSEPWGRTPVLPAGPPTTDPWALNSPHHKLPSTGADPWGASLETSDTPGGAS
TFDPFAKPPESTETKEGLEQALPSGKPSSPVELDLFGDPSPSSKQNGTKEPDALDLGILGEALTQPSKEARACRTPESFLGPSASSLVNLDSLVKAPQVAKTRNP
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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) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top