AutismKB 2.0

Evidence Details for ESCO2


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Basic Information Top
Gene Symbol:ESCO2 ( 2410004I17Rik,EFO2,RBS )
Gene Full Name: establishment of cohesion 1 homolog 2 (S. cerevisiae)
Band: 8p21.1
Quick LinksEntrez ID:157570; OMIM: 609353; Uniprot ID:ESCO2_HUMAN; ENSEMBL ID: ENSG00000171320; HGNC ID: 27230
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ESCO2|157570|nucleotide
ATGGCAGCTCTTACTCCAAGGAAGAGGAAGCAGGATTCTTTGAAGTGTGACAGCCTTTTACACTTCACTGAAAATCTGTTTCCATCACCTAATAAAAAGCACTGT
TTTTATCAAAACAGTGATAAAAATGAAGAAAACCTGCATTGCTCTCAACAAGAGCATTTTGTTTTAAGTGCGCTCAAAACAACTGAAATAAATAGACTGCCATCA
GCAAATCAAGGCTCACCATTTAAATCTGCGCTCTCCACTGTATCTTTTTACAACCAAAATAAGTGGTACCTCAATCCACTGGAGAGAAAGCTGATAAAAGAGAGT
AGATCTACTTGTCTAAAAACTAATGATGAAGATAAATCTTTTCCCATTGTGACAGAAAAAATGCAAGGAAAACCAGTCTGCTCCAAGAAGAACAACAAAAAACCA
CAGAAGAGTTTAACTGCTAAGTATCAACCAAAGTATAGACACATCAAGCCTGTATCAAGGAATTCTAGAAATTCCAAGCAAAATCGAGTGATCTATAAGCCAATT
GTGGAGAAGGAAAATAATTGTCATTCAGCTGAAAATAATTCCAATGCTCCTCGGGTTCTGAGCCAAAAAATAAAACCACAAGTTACACTCCAGGGTGGAGCAGCA
TTTTTTGTTAGAAAAAAATCTTCTCTTAGAAAATCGTCCCTGGAAAATGAGCCGTCACTGGGACGCACCCAAAAGAGTAAATCAGAAGTCATTGAAGATTCTGAT
GTAGAGACTGTCAGTGAAAAAAAAACTTTTGCGACAAGGCAAGTGCCAAAGTGCTTGGTCCTAGAAGAGAAATTGAAAATTGGACTACTGAGTGCAAGCAGTAAA
AATAAAGAGAAATTAATAAAGGATTCATCAGATGACAGAGTTTCTTCAAAGGAACATAAAGTTGATAAAAATGAGGCTTTTTCTTCAGAGGATTCTCTTGGTGAG
AATAAGACAATTTCTCCTAAGTCCACTGTCTATCCAATCTTCAGTGCATCTTCAGTCAATTCAAAAAGATCTTTAGGTGAAGAACAGTTTTCTGTGGGATCTGTC
AACTTCATGAAACAGACCAATATCCAGAAAAATACTAATACCAGAGATACAAGTAAAAAAACAAAAGACCAGCTCATCATCGACGCTGGTCAGAAACATTTTGGG
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>ESCO2|157570|protein
MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEENLHCSQQEHFVLSALKTTEINRLPSANQGSPFKSALSTVSFYNQNKWYLNPLERKLIKES
RSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKPQKSLTAKYQPKYRHIKPVSRNSRNSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIKPQVTLQGGAA
FFVRKKSSLRKSSLENEPSLGRTQKSKSEVIEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLSASSKNKEKLIKDSSDDRVSSKEHKVDKNEAFSSEDSLGE
NKTISPKSTVYPIFSASSVNSKRSLGEEQFSVGSVNFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTASNPEDEMQHVQHHHRFLEGIKY
VGWKKERVVAEFWDGKIVLVLPHDPSFAIKKVEDVQELVDNELGFQQVVPKCPNKIKTFLFISDEKRVVGCLIAEPIKQAFRVLSEPIGPESPSSTECPRAWQCS
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top