AutismKB 2.0

Evidence Details for CERCAM


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Basic Information Top
Gene Symbol:CERCAM ( CEECAM1,GLT25D3,MGC149620,MGC149621 )
Gene Full Name: cerebral endothelial cell adhesion molecule
Band: 9q34.11
Quick LinksEntrez ID:51148; OMIM: NA; Uniprot ID:GT253_HUMAN; ENSEMBL ID: ENSG00000167123; HGNC ID: 23723
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CERCAM|51148|nucleotide
ATGCGCGCTGCCCGCGCCGCGCCGCTGCTCCAGCTGCTGCTCCTGCTGGGGCCGTGGCTGGAGGCTGCGGGCGTTGCGGAGTCGCCGCTGCCCGCCGTGGTCCTT
GCCATCCTGGCCCGCAATGCCGAACACTCGCTGCCCCACTACCTGGGCGCTCTGGAGCGGCTGGACTACCCCCGGGCCAGGATGGCCCTCTGGTGTGCCACGGAC
CACAATGTGGACAACACCACAGAGATGCTGCAGGAGTGGCTGGCGGCTGTGGGCGATGACTATGCTGCTGTGGTCTGGAGGCCTGAGGGCGAGCCCAGGTTCTAC
CCAGATGAAGAGGGTCCCAAGCACTGGACCAAAGAAAGGCACCAGTTTCTGATGGAGCTGAAGCAGGAAGCCCTCACCTTTGCCAGGAACTGGGGGGCCGACTAT
ATCCTGTTTGCAGACACAGACAACATTCTGACCAACAATCAGACTCTGCGGCTTCTCATGGGGCAGGGGCTTCCAGTGGTGGCCCCAATGCTGGACTCCCAGACC
TACTACTCCAACTTCTGGTGTGGGATCACCCCCCAGGGCTACTACCGCCGCACAGCCGAGTACTTCCCCACCAAGAACCGCCAGCGCCGGGGCTGCTTCCGTGTC
CCCATGGTCCACTCCACCTTCCTTGCATCCCTGCGGGCTGAAGGGGCAGACCAGCTTGCTTTCTACCCGCCACATCCCAACTACACTTGGCCTTTCGACGACATC
ATCGTCTTCGCCTATGCCTGCCAGGCTGCTGGGGTCTCCGTCCACGTGTGCAATGAGCACCGTTATGGGTACATGAATGTGCCGGTGAAATCCCACCAGGGGCTG
GAAGACGAGAGGGTCAACTTCATCCACCTGATCTTAGAAGCACTAGTGGACGGCCCCCGCATGCAGGCCTCAGCTCATGTGACTCGGCCCTCTAAGAGGCCCAGC
AAGATAGGGTTTGACGAGGTCTTTGTCATCAGCCTGGCTCGCAGGCCTGACCGTCGGGAACGCATGCTCGCCTCGCTCTGGGAGATGGAGATCTCTGGGAGGGTG
GTGGACGCTGTGGATGGCTGGATGCTCAACAGCAGTGCCATCAGGAACCTCGGCGTAGACCTGCTCCCGGGCTACCAGGACCCTTACTCGGGCCGCACTCTGACC
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>CERCAM|51148|protein
MRAARAAPLLQLLLLLGPWLEAAGVAESPLPAVVLAILARNAEHSLPHYLGALERLDYPRARMALWCATDHNVDNTTEMLQEWLAAVGDDYAAVVWRPEGEPRFY
PDEEGPKHWTKERHQFLMELKQEALTFARNWGADYILFADTDNILTNNQTLRLLMGQGLPVVAPMLDSQTYYSNFWCGITPQGYYRRTAEYFPTKNRQRRGCFRV
PMVHSTFLASLRAEGADQLAFYPPHPNYTWPFDDIIVFAYACQAAGVSVHVCNEHRYGYMNVPVKSHQGLEDERVNFIHLILEALVDGPRMQASAHVTRPSKRPS
KIGFDEVFVISLARRPDRRERMLASLWEMEISGRVVDAVDGWMLNSSAIRNLGVDLLPGYQDPYSGRTLTKGEVGCFLSHYSIWEEVVARGLARVLVFEDDVRFE
SNFRGRLERLMEDVEAEKLSWDLIYLGRKQVNPEKETAVEGLPGLVVAGYSYWTLAYALRLAGARKLLASQPLRRMLPVDEFLPIMFDQHPNEQYKAHFWPRDLV
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top