AutismKB 2.0

Evidence Details for FBLN2


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Basic Information Top
Gene Symbol:FBLN2 ( - )
Gene Full Name: fibulin 2
Band: 3p25.1
Quick LinksEntrez ID:2199; OMIM: 135821; Uniprot ID:FBLN2_HUMAN; ENSEMBL ID: ENSG00000163520; HGNC ID: 3601
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBLN2|2199|nucleotide
ATGGTGCTGCTCTGGGAGCCTGCAGGAGCCTGGCTTGCTCTGGGCCTGGCCCTGGCCCTGGGCCCCAGCGTGGCCGCAGCTGCCCCTCGGCAGGACTGCACGGGC
GTGGAGTGCCCGCCGCTGGAGAACTGCATTGAGGAGGCGCTGGAGCCGGGTGCCTGCTGTGCCACGTGTGTGCAGCAGGGCTGCGCCTGCGAGGGCTACCAGTAC
TATGACTGCCTACAGGGTGGCTTCGTGCGCGGCCGCGTGCCCGCCGGTCAGTCCTATTTTGTGGACTTCGGGAGCACTGAGTGCTCCTGCCCACCAGGCGGCGGC
AAGATCAGCTGCCAGTTCATGCTGTGCCCGGAGCTGCCGCCCAACTGCATCGAGGCTGTAGTGGTGGCTGACAGCTGCCCACAGTGCGGCCAGGTGGGCTGCGTC
CACGCGGGCCACAAGTACGCCGCTGGCCACACTGTTCACCTGCCGCCCTGCCGGGCCTGCCACTGCCCTGACGCCGGTGGAGAGCTCATCTGCTACCAGCTCCCC
GGTTGCCACGGGAACTTCTCAGATGCCGAGGAGGGTGACCCCGAGCGACACTACGAAGACCCCTACAGCTATGACCAGGAGGTGGCCGAGGTGGAAGCAGCAACA
GCCCTGGGGGGTGAGGTCCAGGCGGGTGCAGTCCAGGCAGGCGCAGGGGGCCCCCCAGCTGCTCTGGGAGGTGGGAGTCAGCCACTGTCCACCATCCAGGCACCC
CCCTGGCCAGCTGTCCTCCCCAGGCCCACAGCGGCTGCTGCCCTGGGTCCCCCAGCCCCAGTGCAGGCCAAAGCTAGGAGAGTGACCGAGGACAGTGAGGAGGAA
GAAGAGGAGGAGGAGGAGAGAGAGGAAATGGCTGTCACTGAGCAGCTGGCAGCAGGTGGCCACAGGGGGCTGGATGGGCTGCCCACTACAGCCCCAGCTGGACCC
AGTCTTCCTATCCAGGAGGAGAGGGCAGAAGCTGGGGCAAGGGCAGAAGCTGGGGCAAGGCCTGAAGAGAACCTCATCCTGGATGCCCAAGCCACGTCCCGCAGC
ACTGGGCCGGAGGGCGTGACGCATGCACCGAGCCTGGGCAAGGCTGCTCTCGTCCCAACTCAGGCCGTGCCTGGCTCTCCCAGGGACCCAGTCAAGCCCAGCCCC
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>FBLN2|2199|protein
MVLLWEPAGAWLALGLALALGPSVAAAAPRQDCTGVECPPLENCIEEALEPGACCATCVQQGCACEGYQYYDCLQGGFVRGRVPAGQSYFVDFGSTECSCPPGGG
KISCQFMLCPELPPNCIEAVVVADSCPQCGQVGCVHAGHKYAAGHTVHLPPCRACHCPDAGGELICYQLPGCHGNFSDAEEGDPERHYEDPYSYDQEVAEVEAAT
ALGGEVQAGAVQAGAGGPPAALGGGSQPLSTIQAPPWPAVLPRPTAAAALGPPAPVQAKARRVTEDSEEEEEEEEEREEMAVTEQLAAGGHRGLDGLPTTAPAGP
SLPIQEERAEAGARAEAGARPEENLILDAQATSRSTGPEGVTHAPSLGKAALVPTQAVPGSPRDPVKPSPHNILSTSLPDAAWIPPTREVPRKPQVLPHSHVEED
TDPNSVHSIPRSSPEGSTKDLIETCCAAGQQWAIDNDECLEIPESGTEDNVCRTAQRHCCVSYLQEKSCMAGVLGAKEGETCGAEDNDSCGISLYKQCCDCCGLG
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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 (1) 0 (0) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top