AutismKB 2.0

Evidence Details for CHL1


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Basic Information Top
Gene Symbol:CHL1 ( CALL,FLJ44930,L1CAM2,MGC132578 )
Gene Full Name: cell adhesion molecule with homology to L1CAM (close homolog of L1)
Band: 3p26.3
Quick LinksEntrez ID:10752; OMIM: 607416; Uniprot ID:CHL1_HUMAN; ENSEMBL ID: ENSG00000134121; HGNC ID: 1939
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHL1|10752|nucleotide
ATGGAGCCGCTTTTACTTGGAAGAGGACTAATCGTATATCTAATGTTCCTCCTGTTAAAATTCTCAAAAGCAATTGAAATACCATCTTCAGTTCAACAGGTTCCA
ACAATCATAAAACAGTCAAAAGTCCAAGTTGCCTTTCCCTTCGATGAGTATTTTCAAATTGAATGTGAAGCTAAAGGAAATCCAGAACCAACATTTTCGTGGACT
AAGGATGGCAACCCTTTTTATTTCACTGACCATCGGATAATTCCATCGAACAATTCAGGAACATTCAGGATCCCAAACGAGGGGCACATATCTCACTTTCAAGGG
AAATACCGCTGCTTTGCTTCAAATAAACTGGGAATCGCTATGTCAGAAGAAATAGAATTTATAGTTCCAAGTGTTCCAAAATTCCCAAAAGAAAAAATTGACCCT
CTTGAAGTGGAGGAGGGAGATCCAATTGTCCTCCCATGCAATCCTCCCAAAGGCCTCCCACCTTTACACATTTATTGGATGAATATTGAATTAGAACACATCGAA
CAAGATGAAAGAGTATACATGAGCCAAAAGGGAGATCTATACTTCGCAAACGTGGAAGAAAAGGACAGTCGCAATGACTACTGTTGCTTTGCTGCATTTCCAAGA
TTAAGGACTATTGTACAGAAAATGCCAATGAAACTAACAGTTAACAGTTTAAAGCATGCTAATGACTCAAGTTCATCCACAGAAATTGGTTCCAAGGCAAATTCC
ATCAAGCAAAGAAAACCCAAACTGCTGTTGCCTCCCACTGAGAGTGGCAGTGAGTCTTCAATTACCATCCTCAAAGGGGAAATCTTGCTGCTTGAGTGTTTTGCT
GAAGGCTTGCCAACTCCACAGGTTGATTGGAACAAAATTGGTGGTGACTTACCAAAGGGGAGAGAAACAAAAGAAAATTATGGCAAGACTTTGAAGATAGAGAAT
GTCTCCTACCAGGACAAAGGAAATTATCGCTGCACAGCCAGCAATTTCTTGGGAACAGCCACTCACGATTTTCACGTTATAGTAGAAGAGCCTCCTCGCTGGACA
AAGAAGCCTCAGAGTGCTGTGTATAGCACCGGAAGCAATGGCATCTTGTTATGTGAGGCTGAAGGAGAACCTCAACCCACAATCAAGTGGAGAGTCAATGGCTCC
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>CHL1|10752|protein
MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEPTFSWTKDGNPFYFTDHRIIPSNNSGTFRIPNEGHISHFQG
KYRCFASNKLGIAMSEEIEFIVPSVPKFPKEKIDPLEVEEGDPIVLPCNPPKGLPPLHIYWMNIELEHIEQDERVYMSQKGDLYFANVEEKDSRNDYCCFAAFPR
LRTIVQKMPMKLTVNSLKHANDSSSSTEIGSKANSIKQRKPKLLLPPTESGSESSITILKGEILLLECFAEGLPTPQVDWNKIGGDLPKGRETKENYGKTLKIEN
VSYQDKGNYRCTASNFLGTATHDFHVIVEEPPRWTKKPQSAVYSTGSNGILLCEAEGEPQPTIKWRVNGSPVDNHPFAGDVVFPREISFTNLQPNHTAVYQCEAS
NVHGTILANANIDVVDVRPLIQTKDGENYATVVGYSAFLHCEFFASPEAVVSWQKVEEVKPLEGRRYHIYENGTLQINRTTEEDAGSYSCWVENAIGKTAVTANL
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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) 1 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 2 (6)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Hu J, 2015 - aCGH;FISH--ASD - - - - 3724 - 3724
Li C, 2016 - Array CGHASD - - - - 1 - 1
Linkage Studies Top