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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018