AutismKB 2.0

Evidence Details for FBN2


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Basic Information Top
Gene Symbol:FBN2 ( CCA,DA9 )
Gene Full Name: fibrillin 2
Band: 5q23.3
Quick LinksEntrez ID:2201; OMIM: 612570; Uniprot ID:FBN2_HUMAN; ENSEMBL ID: ENSG00000138829; HGNC ID: 3604
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBN2|2201|nucleotide
ATGGGGAGAAGACGGAGGCTGTGTCTCCAGCTCTACTTCCTGTGGCTGGGCTGTGTGGTGCTCTGGGCGCAGGGCACGGCCGGCCAGCCTCAGCCTCCTCCGCCC
AAGCCGCCCCGGCCCCAGCCGCCGCCGCAACAGGTTCGGTCCGCTACAGCAGGCTCTGAAGGCGGGTTTCTAGCGCCCGAGTATCGCGAGGAGGGTGCCGCAGTG
GCCAGCCGCGTCCGCCGGCGAGGACAGCAGGACGTGCTCCGAGGGCCCAACGTGTGCGGCTCCAGATTCCACTCCTACTGCTGCCCTGGATGGAAGACGCTCCCT
GGAGGAAACCAGTGCATTGTCCCGATTTGTAGAAATAGTTGTGGAGATGGATTTTGTTCCCGTCCTAACATGTGTACTTGTTCCAGTGGGCAAATATCATCAACC
TGTGGATCAAAATCAATTCAGCAGTGCAGTGTGAGATGCATGAATGGTGGGACCTGTGCAGATGACCACTGCCAGTGCCAGAAAGGATATATTGGAACTTATTGT
GGACAACCTGTCTGTGAAAATGGATGTCAGAATGGTGGACGTTGCATCGGACCCAACCGCTGTGCTTGTGTTTATGGGTTCACTGGTCCACAGTGTGAAAGAGAT
TACAGGACAGGCCCGTGTTTCACTCAGGTCAACAACCAGATGTGCCAAGGGCAGCTGACAGGCATTGTCTGCACGAAGACTCTGTGCTGTGCCACCATTGGACGG
GCGTGGGGCCATCCCTGTGAGATGTGTCCAGCCCAGCCTCAGCCCTGCCGACGGGGTTTCATCCCCAACATCCGCACTGGAGCTTGCCAAGATGTTGATGAATGC
CAGGCTATCCCAGGGATATGCCAAGGAGGAAACTGTATCAATACAGTGGGCTCTTTTGAATGCAGATGCCCTGCTGGTCACAAACAGAGTGAAACTACTCAGAAA
TGTGAAGACATTGATGAGTGCAGCATCATTCCTGGGATATGTGAAACTGGTGAATGTTCCAACACCGTGGGAAGCTATTTTTGTGTTTGTCCACGTGGATATGTA
ACCTCAACAGATGGCTCTCGATGCATCGATCAGAGAACAGGCATGTGTTTCTCGGGCCTGGTGAATGGCCGCTGTGCACAAGAGCTCCCGGGGAGAATGACGAAA
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>FBN2|2201|protein
MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLAPEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLP
GGNQCIVPICRNSCGDGFCSRPNMCTCSSGQISSTCGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERD
YRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFECRCPAGHKQSETTQK
CEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCIDQRTGMCFSGLVNGRCAQELPGRMTKMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCMDG
LPMGGIPGSAGSRPGGTGGNGFAPSGNGNGYGPGGTGFIPIPGGNGFSPGVGGAGVGAGGQGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGY
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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 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top