AutismKB 2.0

Evidence Details for ESCO1


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Basic Information Top
Gene Symbol:ESCO1 ( A930014I12Rik,CTF,ECO1,EFO1,ESO1,KIAA1911,MGC105022 )
Gene Full Name: establishment of cohesion 1 homolog 1 (S. cerevisiae)
Band: 18q11.2
Quick LinksEntrez ID:114799; OMIM: 609674; Uniprot ID:ESCO1_HUMAN; ENSEMBL ID: ENSG00000141446; HGNC ID: 24645
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ESCO1|114799|nucleotide
ATGATGTCCATTCAGGAGAAATCAAAAGAGAATTCCTCCAAAGTTACTAAAAAAAGTGACGATAAGAATTCAGAAACAGAAATTCAGGATTCTCAAAAGAATCTA
GCAAAAAAATCAGGTCCAAAGGAGACTATAAAATCACAGGCTAAATCTTCCAGTGAAAGTAAAATAAATCAGCCAGAATTGGAAACACGCATGAGTACAAGGTCA
TCAAAGGCAGCATCTAATGATAAAGCTACTAAATCCATTAATAAAAATACGGTGACTGTGAGGGGATATTCACAAGAATCTACAAAAAAGAAATTATCTCAGAAA
AAATTAGTACATGAAAACCCTAAAGCAAATGAACAGCTTAACCGGAGATCACAAAGGCTACAACAATTAACAGAGGTTTCAAGAAGGTCGTTACGCAGTAGAGAA
ATTCAGGGTCAAGTTCAAGCAGTTAAACAGAGTTTGCCACCAACTAAAAAAGAGCAGTGTAGCAGTACTCAGAGTAAATCTAATAAAACAAGTCAAAAACATGTG
AAGAGAAAAGTACTGGAAGTAAAGTCTGACTCTAAAGAAGATGAAAATCTAGTAATTAATGAAGTAATAAATTCTCCCAAAGGGAAAAAACGCAAGGTAGAACAT
CAGACAGCTTGTGCTTGTAGTTCTCAATGCACGCAAGGATCTGAAAAGTGTCCTCAGAAGACTACTAGAAGAGACGAAACGAAACCTGTGCCTGTAACTTCTGAG
GTGAAAAGATCAAAAATGGCTACTTCAGTGGTCCCGAAAAAGAATGAGATGAAGAAGTCGGTTCATACACAAGTGAATACTAACACAACACTCCCAAAAAGTCCA
CAGCCATCAGTGCCTGAACAAAGTGATAATGAGCTGGAGCAAGCAGGAAAGAGCAAACGAGGTAGTATTCTCCAGCTCTGTGAAGAAATTGCTGGTGAAATTGAG
TCAGATAATGTAGAGGTAAAAAAGGAATCTTCACAAATGGAAAGTGTAAAGGAAGAAAAGCCCACAGAAATAAAATTGGAAGAGACCAGTGTTGAAAGACAAATA
CTTCATCAGAAGGAAACAAATCAGGATGTGCAATGTAATCGTTTTTTCCCAAGTAGAAAAACAAAGCCTGTGAAATGTATACTAAATGGAATAAACAGCTCAGCC
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>ESCO1|114799|protein
MMSIQEKSKENSSKVTKKSDDKNSETEIQDSQKNLAKKSGPKETIKSQAKSSSESKINQPELETRMSTRSSKAASNDKATKSINKNTVTVRGYSQESTKKKLSQK
KLVHENPKANEQLNRRSQRLQQLTEVSRRSLRSREIQGQVQAVKQSLPPTKKEQCSSTQSKSNKTSQKHVKRKVLEVKSDSKEDENLVINEVINSPKGKKRKVEH
QTACACSSQCTQGSEKCPQKTTRRDETKPVPVTSEVKRSKMATSVVPKKNEMKKSVHTQVNTNTTLPKSPQPSVPEQSDNELEQAGKSKRGSILQLCEEIAGEIE
SDNVEVKKESSQMESVKEEKPTEIKLEETSVERQILHQKETNQDVQCNRFFPSRKTKPVKCILNGINSSAKKNSNWTKIKLSKFNSVQHNKLDSQVSPKLGLLRT
SFSPPALEMHHPVTQSTFLGTKLHDRNITCQQEKMKEINSEEVKINDITVEINKTTERAPENCHLANEIKPSDPPLDNQMKHSFDSASNKNFSQCLESKLENSPV
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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) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top