AutismKB 2.0

Evidence Details for CR2


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Basic Information Top
Gene Symbol:CR2 ( C3DR,CD21,SLEB9 )
Gene Full Name: complement component (3d/Epstein Barr virus) receptor 2
Band: 1q32.2
Quick LinksEntrez ID:1380; OMIM: 120650; Uniprot ID:CR2_HUMAN; ENSEMBL ID: ENSG00000117322; HGNC ID: 2336
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CR2|1380|nucleotide
ATGGGCGCCGCGGGCCTGCTCGGGGTTTTCTTGGCTCTCGTCGCACCGGGGGTCCTCGGGATTTCTTGTGGCTCTCCTCCGCCTATCCTAAATGGCCGGATTAGT
TATTATTCTACCCCCATTGCTGTTGGTACCGTGATAAGGTACAGTTGTTCAGGTACCTTCCGCCTCATTGGAGAAAAAAGTCTATTATGCATAACTAAAGACAAA
GTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCT
ACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCG
ACACGACTACCAACCTGTGTAAGTGTTTTCCCTCTCGAGTGTCCAGCACTTCCTATGATCCACAATGGACATCACACAAGTGAGAATGTTGGCTCCATTGCTCCA
GGATTGTCTGTGACTTACAGCTGTGAATCTGGTTACTTGCTTGTTGGAGAAAAGATCATTAACTGTTTGTCTTCGGGAAAATGGAGTGCTGTCCCCCCCACATGT
GAAGAGGCACGCTGTAAATCTCTAGGACGATTTCCCAATGGGAAGGTAAAGGAGCCTCCAATTCTCCGGGTTGGTGTAACTGCAAACTTTTTCTGTGATGAAGGG
TATCGACTGCAAGGCCCACCTTCTAGTCGGTGTGTAATTGCTGGACAGGGAGTTGCTTGGACCAAAATGCCAGTATGTGAAGAAATTTTTTGCCCATCACCTCCC
CCTATTCTCAATGGAAGACATATAGGCAACTCACTAGCAAATGTCTCATATGGAAGCATAGTCACTTACACTTGTGACCCGGACCCAGAGGAAGGAGTGAACTTC
ATCCTTATTGGAGAGAGCACTCTCCGTTGTACAGTTGATAGTCAGAAGACTGGGACCTGGAGTGGCCCTGCCCCACGCTGTGAACTTTCTACTTCTGCGGTTCAG
TGTCCACATCCCCAGATCCTAAGAGGCCGAATGGTATCTGGGCAGAAAGATCGATATACCTATAACGACACTGTGATATTTGCTTGCATGTTTGGCTTCACCTTG
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>CR2|1380|protein
MGAAGLLGVFLALVAPGVLGISCGSPPPILNGRISYYSTPIAVGTVIRYSCSGTFRLIGEKSLLCITKDKVDGTWDKPAPKCEYFNKYSSCPEPIVPGGYKIRGS
TPYRHGDSVTFACKTNFSMNGNKSVWCQANNMWGPTRLPTCVSVFPLECPALPMIHNGHHTSENVGSIAPGLSVTYSCESGYLLVGEKIINCLSSGKWSAVPPTC
EEARCKSLGRFPNGKVKEPPILRVGVTANFFCDEGYRLQGPPSSRCVIAGQGVAWTKMPVCEEIFCPSPPPILNGRHIGNSLANVSYGSIVTYTCDPDPEEGVNF
ILIGESTLRCTVDSQKTGTWSGPAPRCELSTSAVQCPHPQILRGRMVSGQKDRYTYNDTVIFACMFGFTLKGSKQIRCNAQGTWEPSAPVCEKECQAPPNILNGQ
KEDRHMVRFDPGTSIKYSCNPGYVLVGEESIQCTSEGVWTPPVPQCKVAACEATGRQLLTKPQHQFVRPDVNSSCGEGYKLSGSVYQECQGTIPWFMEIRLCKEI
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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top