AutismKB 2.0

Evidence Details for SCRIB


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Basic Information Top
Gene Symbol:SCRIB ( CRIB1,SCRB1,SCRIB1,Vartul )
Gene Full Name: scribbled homolog (Drosophila)
Band: 8q24.3
Quick LinksEntrez ID:23513; OMIM: 607733; Uniprot ID:SCRIB_HUMAN; ENSEMBL ID: ENSG00000180900; HGNC ID: 30377
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCRIB|23513|nucleotide
ATGCTCAAGTGCATCCCGCTGTGGCGCTGCAACCGGCACGTGGAGTCGGTGGACAAGCGGCACTGTTCGCTGCAGGCCGTGCCGGAGGAGATCTACCGCTACAGC
CGCAGCCTGGAGGAGCTGCTGCTCGACGCCAACCAGCTGCGCGAGCTGCCCAAGCCTTTTTTCCGGCTGCTGAACTTGCGCAAGCTGGGCCTGAGCGACAACGAG
ATCCAGCGGTTGCCTCCCGAGGTGGCCAACTTCATGCAGCTGGTGGAGCTGGACGTGTCCCGGAACGATATCCCTGAGATCCCGGAGAGCATCAAGTTCTGCAAG
GCTCTGGAGATCGCGGACTTCAGCGGGAACCCCCTCTCCAGGCTCCCTGATGGCTTCACTCAGCTGCGCAGCCTGGCTCACCTGGCCCTGAATGATGTGTCTCTG
CAGGCACTGCCCGGGGACGTGGGCAACCTCGCCAACCTGGTGACCCTGGAGCTCCGGGAGAACCTGCTCAAGTCCCTGCCAGCGTCCCTGTCATTTCTGGTCAAG
CTGGAACAGCTGGATCTGGGAGGCAACGATCTGGAAGTGCTGCCAGACACTCTGGGGGCTCTGCCCAATCTTCGGGAGCTGTGGCTTGACCGGAACCAGCTGTCA
GCACTGCCCCCGGAGCTCGGGAACCTGCGGCGCCTGGTGTGCCTGGACGTGTCGGAAAACCGGCTGGAGGAGCTGCCTGCTGAGCTCGGCGGGCTGGTGCTGCTC
ACTGACCTGCTGCTGTCCCAGAACCTGCTGCGGAGGCTGCCCGACGGCATCGGTCAGCTGAAGCAGCTATCCATCCTAAAGGTAGACCAGAATCGGCTGTGCGAG
GTGACTGAGGCCATCGGGGACTGTGAGAACCTCTCTGAGCTGATCCTCACGGAGAACCTGCTGATGGCCCTGCCCCGCTCCCTGGGAAAGCTGACTAAGCTGACC
AACCTCAACGTGGACCGGAACCACCTCGAGGCGCTGCCGCCCGAGATCGGGGGCTGTGTGGCACTCAGCGTCCTCTCCTTGAGGGACAACCGCCTGGCCGTCCTG
CCACCAGAGCTGGCCCACACGACAGAGCTGCACGTGCTGGACGTGGCGGGGAACCGCCTGCAGAGTCTGCCGTTCGCGCTCACCCACCTCAATCTCAAGGCCCTG
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>SCRIB|23513|protein
MLKCIPLWRCNRHVESVDKRHCSLQAVPEEIYRYSRSLEELLLDANQLRELPKPFFRLLNLRKLGLSDNEIQRLPPEVANFMQLVELDVSRNDIPEIPESIKFCK
ALEIADFSGNPLSRLPDGFTQLRSLAHLALNDVSLQALPGDVGNLANLVTLELRENLLKSLPASLSFLVKLEQLDLGGNDLEVLPDTLGALPNLRELWLDRNQLS
ALPPELGNLRRLVCLDVSENRLEELPAELGGLVLLTDLLLSQNLLRRLPDGIGQLKQLSILKVDQNRLCEVTEAIGDCENLSELILTENLLMALPRSLGKLTKLT
NLNVDRNHLEALPPEIGGCVALSVLSLRDNRLAVLPPELAHTTELHVLDVAGNRLQSLPFALTHLNLKALWLAENQAQPMLRFQTEDDARTGEKVLTCYLLPQQP
PLSLEDAGQQGSLSETWSDAPPSRVSVIQFLEAPIGDEDAEEAAAEKRGLQRRATPHPSELKVMKRSIEGRRSEACPCQPDSGSPLPAEEEKRLSAESGLSEDSR
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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) 0 (0) 0 (2) 1 (1) 0 (0) 0 (0) 1 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top