AutismKB 2.0

Evidence Details for SMC2


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Basic Information Top
Gene Symbol:SMC2 ( CAP-E,CAPE,FLJ10093,SMC2L1,hCAP-E )
Gene Full Name: structural maintenance of chromosomes 2
Band: 9q31.1
Quick LinksEntrez ID:10592; OMIM: 605576; Uniprot ID:SMC2_HUMAN; ENSEMBL ID: ENSG00000136824; HGNC ID: 14011
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMC2|10592|nucleotide
ATGCATATTAAGTCAATTATTCTAGAGGGATTCAAGTCCTATGCTCAGAGGACCGAAGTCAATGGTTTTGACCCCCTCTTCAATGCTATCACTGGCTTAAATGGT
AGTGGGAAATCCAACATATTGGACTCCATCTGCTTTTTGCTGGGCATCTCCAACCTGTCTCAGGTTCGGGCTTCTAATTTACAAGATTTAGTTTACAAAAATGGG
CAGGCTGGTATTACCAAAGCCTCTGTGTCAATCACTTTTGATAATTCTGACAAAAAGCAAAGTCCTTTAGGATTTGAGGTTCATGATGAAATCACAGTAACAAGG
CAGGTGGTTATTGGTGGTAGAAATAAATATTTAATCAATGGAGTCAATGCCAACAACACCAGAGTACAGGATCTCTTCTGTTCTGTTGGCCTTAATGTTAACAAC
CCTCACTTTCTCATCATGCAGGGCCGAATTACAAAAGTATTGAATATGAAACCTCCAGAGATTTTATCCATGATAGAAGAAGCAGCTGGAACCAGGATGTATGAA
TACAAAAAAATAGCTGCACAGAAAACTATAGAAAAAAAGGAGGCTAAGCTGAAAGAAATTAAGACGATACTTGAAGAAGAGATTACTCCAACCATTCAAAAATTA
AAAGAGGAAAGATCGTCCTACTTGGAGTACCAAAAAGTAATGAGAGAAATAGAACATTTGAGTCGTTTATATATTGCTTATCAGTTTTTGCTGGCTGAAGATACC
AAAGTACGCTCAGCTGAGGAATTAAAAGAAATGCAAGATAAAGTTATAAAGCTTCAGGAAGAATTGTCTGAGAATGATAAAAAAATAAAAGCACTTAATCATGAA
ATAGAAGAATTGGAAAAAAGAAAAGATAAGGAAACTGGAGGTATACTTCGATCTTTAGAAGATGCTCTTGCAGAGGCTCAGCGAGTTAATACTAAATCTCAAAGC
GCATTTGATCTCAAGAAGAAAAATCTGGCATGTGAGGAAAGCAAACGCAAAGAGCTGGAAAAAAATATGGTTGAGGACTCAAAAACTTTAGCAGCAAAGGAAAAA
GAGGTTAAAAAGATAACAGATGGACTGCATGCCCTTCAAGAAGCAAGTAATAAAGATGCTGAAGCTCTGGCAGCTGCACAGCAGCACTTCAATGCTGTTTCCGCT
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>SMC2|10592|protein
MHIKSIILEGFKSYAQRTEVNGFDPLFNAITGLNGSGKSNILDSICFLLGISNLSQVRASNLQDLVYKNGQAGITKASVSITFDNSDKKQSPLGFEVHDEITVTR
QVVIGGRNKYLINGVNANNTRVQDLFCSVGLNVNNPHFLIMQGRITKVLNMKPPEILSMIEEAAGTRMYEYKKIAAQKTIEKKEAKLKEIKTILEEEITPTIQKL
KEERSSYLEYQKVMREIEHLSRLYIAYQFLLAEDTKVRSAEELKEMQDKVIKLQEELSENDKKIKALNHEIEELEKRKDKETGGILRSLEDALAEAQRVNTKSQS
AFDLKKKNLACEESKRKELEKNMVEDSKTLAAKEKEVKKITDGLHALQEASNKDAEALAAAQQHFNAVSAGLSSNEDGAEATLAGQMMACKNDISKAQTEAKQAQ
MKLKHAQQELKNKQAEVKKMDSGYRKDQEALEAVKRLKEKLEAEMKKLNYEENKEESLLEKRRQLSRDIGRLKETYEALLARFPNLRFAYKDPEKNWNRNCVKGL
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top