AutismKB 2.0

Evidence Details for ERI2


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Basic Information Top
Gene Symbol:ERI2 ( EXOD1,KIAA1504,MGC16943 )
Gene Full Name: ERI1 exoribonuclease family member 2
Band: 16p12.3
Quick LinksEntrez ID:112479; OMIM: NA; Uniprot ID:ERI2_HUMAN; ENSEMBL ID: ENSG00000196678; HGNC ID: 30541
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ERI2|112479|nucleotide
ATGGCGACCAAGCGGCTCGCGCGGCAGCTTGGATTAATTAGGAGAAAGTCAATTGCGCCAGCAAATGGAAATCTCGGAAGAAGCAAATCCAAGCAGTTGTTTGAC
TACTTAATTGTCATTGATTTTGAATCGACATGCTGGAATGATGGGAAGCACCACCATAGCCAGGAAATAATTGAGTTTCCAGCAGTGTTGCTGAACACATCAACT
GGACAGATTGACTCTGAGTTCCAGGCTTATGTTCAACCTCAGGAACATCCAATTCTTTCAGAATTTTGCATGGAATTGACAGGCATAAAGCAGGCTCAAGTTGAT
GAAGGAGTCCCTCTGAAGATTTGCTTATCTCAGTTCTGTAAATGGATTCATAAGATTCAGCAACAGAAGAACATTATTTTTGCTACTGGGATTTCAGAGCCTTCT
GCTTCTGAAGTAAAATTATGTGCATTTGTTACTTGGTCAGACTGGGACTTGGGGGTTTGCCTGGAGTATGAGTGTAAAAGAAAGCAGCTGTTAAAACCTGTGTTT
TTAAATTCTTGGATTGATCTCAGAGCAACTTACAAGCTTTTCTATAGGAGAAAACCAAAAGGACTAAGTGGTGCCTTGCAGGAAGTAGGAATAGAATTCTCAGGA
CGAGAACATTCTGGGTTGGACGATTCTCGGAATACTGCCCTTCTTGCTTGGAAAATGATCAGAGATGGTTGTGTAATGAAAATTACAAGGTCGTTGAACAAGGTT
CCCACTAAGAAGAATTTCAGCATTCTGGCCAGAAATTTGAATACAATTCAAGTTGAAGAAATGTCTGCCTGTAACATTAGCATCCAGGGTCCCAGCATATATAAT
AAGGAGCCTAAAAATATAATAAATCCTCATGAAAAAGTTCAAATGAAGTCAATTTGTGCAAATTCTCCTATAAAGGCACAACAGGATCAATTACAAGTAAAAAAC
AATATAAAAGCAAGTCTTCACAATGTCAAAAGTTCCTTACCTCTTTTTAATACTAAGTCCTCTACTTCTGTGGGGCAGTTGCAGTCTCCTACCTTGAATTCACCT
ATCTATATGCAAAAGCAAGGAAAAAATGAACATCTTGCATTTAATACCAAATCTAAGGCTTCAACAGTTGGTTCAGAATTGGTACTTGTTTCTACCACCGTTCCA
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>ERI2|112479|protein
MATKRLARQLGLIRRKSIAPANGNLGRSKSKQLFDYLIVIDFESTCWNDGKHHHSQEIIEFPAVLLNTSTGQIDSEFQAYVQPQEHPILSEFCMELTGIKQAQVD
EGVPLKICLSQFCKWIHKIQQQKNIIFATGISEPSASEVKLCAFVTWSDWDLGVCLEYECKRKQLLKPVFLNSWIDLRATYKLFYRRKPKGLSGALQEVGIEFSG
REHSGLDDSRNTALLAWKMIRDGCVMKITRSLNKVPTKKNFSILARNLNTIQVEEMSACNISIQGPSIYNKEPKNIINPHEKVQMKSICANSPIKAQQDQLQVKN
NIKASLHNVKSSLPLFNTKSSTSVGQLQSPTLNSPIYMQKQGKNEHLAFNTKSKASTVGSELVLVSTTVPTVHHVSDLEMSSTLDCLPVLADWEDVVLLPASQPE
ENVDCTVPISDSDLEISFNSGERLMVLKELEMSSHENFGDIEETPQKSETSKSIVYKSPHTTIYNVKEAKDPGSDISAFKLPEHKSSTFNRVNANMSHPLVLGKH
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top