AutismKB 2.0

Evidence Details for EPHA1


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Basic Information Top
Gene Symbol:EPHA1 ( EPH,EPHT,EPHT1,MGC163163 )
Gene Full Name: EPH receptor A1
Band: 7q34-q35
Quick LinksEntrez ID:2041; OMIM: 179610; Uniprot ID:EPHA1_HUMAN; ENSEMBL ID: ENSG00000146904; HGNC ID: 3385
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EPHA1|2041|nucleotide
ATGGAGCGGCGCTGGCCCCTGGGGCTAGGGCTGGTGCTGCTGCTCTGCGCCCCGCTGCCCCCGGGGGCGCGCGCCAAGGAAGTTACTCTGATGGACACAAGCAAG
GCACAGGGAGAGCTGGGCTGGCTGCTGGATCCCCCAAAAGATGGGTGGAGTGAACAGCAACAGATACTGAATGGGACACCCCTGTACATGTACCAGGACTGCCCA
ATGCAAGGACGCAGAGACACTGACCACTGGCTTCGCTCCAATTGGATCTACCGCGGGGAGGAGGCTTCCCGCGTCCACGTGGAGCTGCAGTTCACCGTGCGGGAC
TGCAAGAGTTTCCCTGGGGGAGCCGGGCCTCTGGGCTGCAAGGAGACCTTCAACCTTCTGTACATGGAGAGTGACCAGGATGTGGGCATTCAGCTCCGACGGCCC
TTGTTCCAGAAGGTAACCACGGTGGCTGCAGACCAGAGCTTCACCATTCGAGACCTTGTGTCTGGCTCCGTGAAGCTGAATGTGGAGCGCTGCTCTCTGGGCCGC
CTGACCCGCCGTGGCCTCTACCTCGCTTTCCACAACCCGGGTGCCTGTGTGGCCCTGGTGTCTGTCCGGGTCTTCTACCAGCGCTGTCCTGAGACCCTGAATGGC
TTGGCCCAATTCCCAGACACTCTGCCTGGCCCCGCTGGGTTGGTGGAAGTGGCGGGGACCTGCTTGCCCCACGCGCGGGCCAGCCCCAGGCCCTCAGGTGCACCC
CGCATGCACTGCAGCCCTGATGGCGAGTGGCTGGTGCCTGTAGGACGGTGCCACTGTGAGCCTGGCTATGAGGAAGGTGGCAGTGGCGAAGCATGTGTTGCCTGC
CCTAGCGGCTCCTACCGGATGGACATGGACACACCCCATTGTCTCACGTGCCCCCAGCAGAGCACTGCTGAGTCTGAGGGGGCCACCATCTGTACCTGTGAGAGC
GGCCATTACAGAGCTCCCGGGGAGGGCCCCCAGGTGGCATGCACAGGTCCCCCCTCGGCCCCCCGAAACCTGAGCTTCTCTGCCTCAGGGACTCAGCTCTCCCTG
CGTTGGGAACCCCCAGCAGATACGGGGGGACGCCAGGATGTCAGATACAGTGTGAGGTGTTCCCAGTGTCAGGGCACAGCACAGGACGGGGGGCCCTGCCAGCCC
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>EPHA1|2041|protein
MERRWPLGLGLVLLLCAPLPPGARAKEVTLMDTSKAQGELGWLLDPPKDGWSEQQQILNGTPLYMYQDCPMQGRRDTDHWLRSNWIYRGEEASRVHVELQFTVRD
CKSFPGGAGPLGCKETFNLLYMESDQDVGIQLRRPLFQKVTTVAADQSFTIRDLVSGSVKLNVERCSLGRLTRRGLYLAFHNPGACVALVSVRVFYQRCPETLNG
LAQFPDTLPGPAGLVEVAGTCLPHARASPRPSGAPRMHCSPDGEWLVPVGRCHCEPGYEEGGSGEACVACPSGSYRMDMDTPHCLTCPQQSTAESEGATICTCES
GHYRAPGEGPQVACTGPPSAPRNLSFSASGTQLSLRWEPPADTGGRQDVRYSVRCSQCQGTAQDGGPCQPCGVGVHFSPGARGLTTPAVHVNGLEPYANYTFNVE
AQNGVSGLGSSGHASTSVSISMGHAESLSGLSLRLVKKEPRQLELTWAGSRPRSPGANLTYELHVLNQDEERYQMVLEPRVLLTELQPDTTYIVRVRMLTPLGPG
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (4)
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