AutismKB 2.0

Evidence Details for EEPD1


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Basic Information Top
Gene Symbol:EEPD1 ( HSPC107,KIAA1706 )
Gene Full Name: endonuclease/exonuclease/phosphatase family domain containing 1
Band: 7p14.2
Quick LinksEntrez ID:80820; OMIM: NA; Uniprot ID:EEPD1_HUMAN; ENSEMBL ID: ENSG00000122547; HGNC ID: 22223
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EEPD1|80820|nucleotide
ATGGGGAGCACCCTGGGCTGCCACCGCTCCATCCCCAGGGACCCCTCGGACCTGTCCCATAGCCGCAAGTTCAGCGCAGCCTGTAACTTCAGCAACATTCTAGTG
AATCAGGAGCGGCTCAACATCAACACTGCCACGGAGGAGGAGCTGATGACCCTGCCTGGGGTGACGCGTGCCGTGGCACGCAGCATCGTGGAGTACCGAGAGTAT
ATCGGTGGCTTCAAGAAGGTGGAGGACCTGGCATTGGTCAGTGGTGTAGGCGCCACCAAGCTGGAGCAGGTCAAGTTTGAGATCTGTGTGAGCAGCAAGGGCAGC
TCAGCGCAGCACTCTCCCAGTTCCCTGCGGCGGGACCTGCTAGCGGAGCAGCAGCCTCACCACCTGGCCACAGCTGTGCCCCTCACCCCACGTGTTAACATCAAC
ACAGCCACCCCGGCCCAGCTCATGAGCGTGCGAGGCCTCTCGGAGAAAATGGCCCTCAGCATCGTGGACTTCCGCCGTGAGCATGGGCCCTTTCGCAGCGTTGAG
GACCTAGTGAGGATGGATGGTATCAATGCCGCCTTCCTGGACAGGATCCGGCACCAGGTGTTTGCTGAGAGGTCCAGGCCCCCATCCACCCACACGAACGGGGGA
CTGACCTTCACCGCCAAGCCTCACCCGAGCCCCACTTCCCTGAGCCTGCAGAGTGAGGACCTGGACCTGCCGCCAGGGGGGCCCACCCAGATTATCTCCACTCGG
CCGTCCGTGGAGGCCTTTGGAGGCACAAGGGATGGGAGGCCTGTGCTGAGGCTGGCCACCTGGAACTTGCAGGGCTGTTCCGTGGAGAAGGCCAACAACCCCGGG
GTGCGAGAGGTGGTGTGCATGACACTCCTGGAAAACAGCATCAAGCTTCTAGCTGTGCAAGAACTGCTTGACAGAGAGGCCTTGGAAAAGTTCTGCACGGAGCTA
AACCAGCCGACCCTGCCCAACATCCGCAAGTGGAAGGGGCCCCGGGGATGCTGGAAGGCTGTTGTTGCTGAGAAGCCCTCGAGTCAGCTCCAGAAGGGAGCTGGG
TATGCAGGATTCCTATGGGACGCGGCTGCCGGCATGGAGCTGAGAGACGCGGGTTCACAGGAGAGCTCGCCAAGCAACGGGCACGGGAAGCTGGCGGGCCCCAGC
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>EEPD1|80820|protein
MGSTLGCHRSIPRDPSDLSHSRKFSAACNFSNILVNQERLNINTATEEELMTLPGVTRAVARSIVEYREYIGGFKKVEDLALVSGVGATKLEQVKFEICVSSKGS
SAQHSPSSLRRDLLAEQQPHHLATAVPLTPRVNINTATPAQLMSVRGLSEKMALSIVDFRREHGPFRSVEDLVRMDGINAAFLDRIRHQVFAERSRPPSTHTNGG
LTFTAKPHPSPTSLSLQSEDLDLPPGGPTQIISTRPSVEAFGGTRDGRPVLRLATWNLQGCSVEKANNPGVREVVCMTLLENSIKLLAVQELLDREALEKFCTEL
NQPTLPNIRKWKGPRGCWKAVVAEKPSSQLQKGAGYAGFLWDAAAGMELRDAGSQESSPSNGHGKLAGPSPYLGRFKVGSHDLTLVNLHLAALTLLGSENPSKNH
SDGHRLASFAQTLQETLKGEKDVIILGDFGQGPDSNDYDILRKEKFHHLIPAHTFTNISTKNPQGSKSLDNIWISKSLKKVFTGHWAVVREGLTNPWIPDNWSWG
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top