AutismKB 2.0

Evidence Details for BICC1


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Basic Information Top
Gene Symbol:BICC1 ( DKFZp686I21119 )
Gene Full Name: bicaudal C homolog 1 (Drosophila)
Band: 10q21.1
Quick LinksEntrez ID:80114; OMIM: NA; Uniprot ID:BICC1_HUMAN; ENSEMBL ID: ENSG00000122870; HGNC ID: 19351
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BICC1|80114|nucleotide
ATGGCCGCCCAGGGAGAGCCCGGCTACCTGGCGGCGCAGTCGGACCCCGGCTCCAACAGCGAGCGCAGCACCGACTCCCCAGTGCCCGGCTCCGAGGACGACTTG
GTCGCCGGGGCGACCCTGCACAGCCCGGAGTGGAGCGAGGAGCGCTTCCGCGTGGACAGGAAGAAACTTGAGGCCATGTTACAAGCTGCTGCTGAAGGGAAAGGC
AGAAGTGGGGAAGACTTTTTTCAAAAGATCATGGAGGAAACAAATACGCAGATTGCTTGGCCATCAAAACTGAAGATCGGAGCCAAATCCAAGAAAGATCCCCAT
ATTAAGGTTTCTGGAAAGAAAGAAGATGTTAAAGAAGCCAAGGAAATGATCATGTCTGTCTTAGACACAAAAAGCAATCGAGTCACACTGAAGATGGATGTTTCA
CATACAGAACATTCACATGTAATCGGCAAAGGTGGCAACAATATTAAAAAAGTGATGGAAGAAACCGGATGCCATATCCACTTTCCAGATTCCAACAGGAATAAC
CAAGCAGAAAAAAGCAACCAGGTATCTATAGCGGGACAACCAGCAGGAGTAGAATCTGCCCGAGTTAGAATTCGGGAGCTGCTTCCTTTGGTGCTGATGTTTGAG
CTACCAATTGCTGGAATTCTTCAACCGGTTCCTGATCCTAATTCCCCCTCTATTCAGCATATATCACAAACGTACAATATTTCAGTATCATTTAAACAGCGTTCC
CGAATGTATGGTGCTACTGTCATAGTACGAGGGTCTCAGAATAACACTAGTGCTGTGAAGGAAGGAACTGCCATGCTGTTAGAACATCTTGCTGGGAGCTTAGCA
TCAGCTATTCCTGTGAGCACACAACTAGATATTGCAGCTCAACATCATCTCTTTATGATGGGTCGAAATGGGAGCAACATCAAACATATCATGCAGAGAACAGGT
GCTCAGATCCACTTTCCTGATCCCAGTAATCCACAAAAGAAATCTACCGTCTACCTCCAGGGCACCATTGAGTCTGTCTGTCTTGCAAGGCAATATCTCATGGGT
TGTCTTCCTCTTGTGTTGATGTTTGATATGAAGGAAGAAATTGAAGTAGATCCACAATTCATTGCGCAGTTGATGGAACAGCTTGATGTCTTCATCAGTATTAAA
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>BICC1|80114|protein
MAAQGEPGYLAAQSDPGSNSERSTDSPVPGSEDDLVAGATLHSPEWSEERFRVDRKKLEAMLQAAAEGKGRSGEDFFQKIMEETNTQIAWPSKLKIGAKSKKDPH
IKVSGKKEDVKEAKEMIMSVLDTKSNRVTLKMDVSHTEHSHVIGKGGNNIKKVMEETGCHIHFPDSNRNNQAEKSNQVSIAGQPAGVESARVRIRELLPLVLMFE
LPIAGILQPVPDPNSPSIQHISQTYNISVSFKQRSRMYGATVIVRGSQNNTSAVKEGTAMLLEHLAGSLASAIPVSTQLDIAAQHHLFMMGRNGSNIKHIMQRTG
AQIHFPDPSNPQKKSTVYLQGTIESVCLARQYLMGCLPLVLMFDMKEEIEVDPQFIAQLMEQLDVFISIKPKPKQPSKSVIVKSVERNALNMYEARKCLLGLESS
GVTIATSPSPASCPAGLACPSLDILASAGLGLTGLGLLGPTTLSLNTSTTPNSLLNALNSSVSPLQSPSSGTPSPTLWAPPLANTSSATGFSAIPHLMIPSTAQA
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top