AutismKB 2.0

Evidence Details for COBLL1


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Basic Information Top
Gene Symbol:COBLL1 ( COBLR1,KIAA0977 )
Gene Full Name: COBL-like 1
Band: 2q24.3
Quick LinksEntrez ID:22837; OMIM: 610318; Uniprot ID:COBL1_HUMAN; ENSEMBL ID: ENSG00000082438; HGNC ID: 23571
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COBLL1|22837|nucleotide
ATGGACGGCCGAACCCCGCGCCCGCAGGACGCCCCAGCCAGGAGAAAACCAAAAGCCAAGGCACCACTTCCTCCAGCTGAGACCAAATATACTGATGTCTCTTCA
GCTGCTGATTCTGTAGAATCCACTGCTTTCATCATGGAACAGAAAGAAAACATGATAGATAAAGACGTTGAACTCTCAGTGGTCCTACCTGGGGATATTATCAAA
TCTACTACTGTTCATGGCAGTAAACCTATGATGGACTTGTTGATATTCCTTTGTGCACAGTATCACTTAAATCCATCAAGTTACACAATCGATCTGTTGTCAGCT
GAACAGAACCACATTAAATTTAAGCCAAACACACCAATAGGAATGTTGGAGGTAGAGAAGGTAATTTTAAAGCCAAAAATGTTGGATAAGAAAAAACCTACACCT
ATAATACCAGAGAAAACTGTGAGAGTAGTGATTAATTTTAAGAAAACACAGAAGACCATAGTGAGAGTGAGTCCACATGCATCGCTTCAAGAGCTTGCCCCTATT
ATATGTAGCAAATGTGAGTTTGATCCGTTGCATACACTATTGTTGAAAGATTATCAATCGCAGGAGCCTCTTGACTTGACAAAATCTCTTAATGACCTGGGACTA
AGAGAATTATATGCGATGGATGTCAACAGAGAGTCCTGCCAAATATCACAAAACCTAGATATTATGAAGGAGAAAGAAAATAAAGGGTTTTTCAGTTTTTTTCAA
CGCAGTAAGAAAAAGCGAGACCAAACTGCAAGTGCCCCTGCAACCCCTCTAGTAAATAAGCACCGCCCAACTTTTACAAGGTCCAATACCATTTCCAAACCATAT
ATTTCCAACACCCTGCCGTCGGATGCACCCAAGAAGAGGCGGGCTCCACTGCCCCCGATGCCAGCATCTCAGAGTGTCCCCCAAGACCTTGCACACATCCAGGAG
AGGCCTGCTTCTTGTATAGTGAAATCCATGAGCGTGGATGAGACAGATAAGAGTCCCTGTGAAGCAGGAAGAGTGAGGGCAGGTTCACTGCAGCTCAGCAGCATG
TCTGCAGGGAATTCATCTTTGAGAAGGACAAAGCGAAAAGCACCTTCCCCACCCTCCAAAATACCCCCGCATCAAAGTGATGAAAATAGTCGTGTGACTGCCTTA
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>COBLL1|22837|protein
MDGRTPRPQDAPARRKPKAKAPLPPAETKYTDVSSAADSVESTAFIMEQKENMIDKDVELSVVLPGDIIKSTTVHGSKPMMDLLIFLCAQYHLNPSSYTIDLLSA
EQNHIKFKPNTPIGMLEVEKVILKPKMLDKKKPTPIIPEKTVRVVINFKKTQKTIVRVSPHASLQELAPIICSKCEFDPLHTLLLKDYQSQEPLDLTKSLNDLGL
RELYAMDVNRESCQISQNLDIMKEKENKGFFSFFQRSKKKRDQTASAPATPLVNKHRPTFTRSNTISKPYISNTLPSDAPKKRRAPLPPMPASQSVPQDLAHIQE
RPASCIVKSMSVDETDKSPCEAGRVRAGSLQLSSMSAGNSSLRRTKRKAPSPPSKIPPHQSDENSRVTALQPVDGVPPDSASEANSPEELSSPETFHPGLSSQEQ
CTAPKLMEETSVFECPGTPEAAITSLTSGISSDYSLEEIDEKEELSEVPKVEAENISPKSQDIPFVSTDIINTLKNDPDSALGNGSGEFSQNSMEEKQETKSTDG
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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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top