AutismKB 2.0

Evidence Details for NCAM1


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Basic Information Top
Gene Symbol:NCAM1 ( CD56,MSK39,NCAM )
Gene Full Name: neural cell adhesion molecule 1
Band: 11q23.2
Quick LinksEntrez ID:4684; OMIM: 116930; Uniprot ID:NCAM1_HUMAN; ENSEMBL ID: ENSG00000149294; HGNC ID: 7656
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCAM1|4684|nucleotide
ATGCTGCAAACTAAGGATCTCATCTGGACTTTGTTTTTCCTGGGAACTGCAGTTTCTCTGCAGGTGGATATTGTTCCCAGCCAGGGGGAGATCAGCGTTGGAGAG
TCCAAATTCTTCTTATGCCAAGTGGCAGGAGATGCCAAAGATAAAGACATCTCCTGGTTCTCCCCCAATGGAGAAAAGCTCACCCCAAACCAGCAGCGGATCTCA
GTGGTGTGGAATGATGATTCCTCCTCCACCCTCACCATCTATAACGCCAACATCGACGACGCCGGCATTTACAAGTGTGTGGTTACAGGCGAGGATGGCAGTGAG
TCAGAGGCCACCGTCAACGTGAAGATCTTTCAGAAGCTCATGTTCAAGAATGCGCCAACCCCACAGGAGTTCCGGGAGGGGGAAGATGCCGTGATTGTGTGTGAT
GTGGTCAGCTCCCTCCCACCAACCATCATCTGGAAACACAAAGGCCGAGATGTCATCCTGAAAAAAGATGTCCGATTCATAGTCCTGTCCAACAACTACCTGCAG
ATCCGGGGCATCAAGAAAACAGATGAGGGCACTTATCGCTGTGAGGGCAGAATCCTGGCACGGGGGGAGATCAACTTCAAGGACATTCAGGTCATTGTGAATGTG
CCACCTACCATCCAGGCCAGGCAGAATATTGTGAATGCCACCGCCAACCTCGGCCAGTCCGTCACCCTGGTGTGCGATGCCGAAGGCTTCCCAGAGCCCACCATG
AGCTGGACAAAGGATGGGGAACAGATAGAGCAAGAGGAAGACGATGAGAAGTACATCTTCAGCGACGATAGTTCCCAGCTGACCATCAAAAAGGTGGATAAGAAC
GACGAGGCTGAGTACATCTGCATTGCTGAGAACAAGGCTGGCGAGCAGGATGCGACCATCCACCTCAAAGTCTTTGCAAAACCCAAAATCACATATGTAGAGAAC
CAGACTGCCATGGAATTAGAGGAGCAGGTCACTCTTACCTGTGAAGCCTCCGGAGACCCCATTCCCTCCATCACCTGGAGGACTTCTACCCGGAACATCAGCAGC
GAAGAAAAGACTCTGGATGGGCACATGGTGGTGCGTAGCCATGCCCGTGTGTCGTCGCTGACCCTGAAGAGCATCCAGTACACTGATGCCGGAGAGTACATCTGC
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>NCAM1|4684|protein
MLQTKDLIWTLFFLGTAVSLQVDIVPSQGEISVGESKFFLCQVAGDAKDKDISWFSPNGEKLTPNQQRISVVWNDDSSSTLTIYNANIDDAGIYKCVVTGEDGSE
SEATVNVKIFQKLMFKNAPTPQEFREGEDAVIVCDVVSSLPPTIIWKHKGRDVILKKDVRFIVLSNNYLQIRGIKKTDEGTYRCEGRILARGEINFKDIQVIVNV
PPTIQARQNIVNATANLGQSVTLVCDAEGFPEPTMSWTKDGEQIEQEEDDEKYIFSDDSSQLTIKKVDKNDEAEYICIAENKAGEQDATIHLKVFAKPKITYVEN
QTAMELEEQVTLTCEASGDPIPSITWRTSTRNISSEEKTLDGHMVVRSHARVSSLTLKSIQYTDAGEYICTASNTIGQDSQSMYLEVQYAPKLQGPVAVYTWEGN
QVNITCEVFAYPSATISWFRDGQLLPSSNYSNIKIYNTPSASYLEVTPDSENDFGNYNCTAVNRIGQESLEFILVQADTPSSPSIDQVEPYSSTAQVQFDEPEAT
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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 (0) 0 (0) 1 (2) 0 (0) 0 (1) 0 (0) 0 (0) 1 (2) 12 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top