AutismKB 2.0

Evidence Details for NOTCH4


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Basic Information Top
Gene Symbol:NOTCH4 ( FLJ16302,INT3,MGC74442,NOTCH3 )
Gene Full Name: notch 4
Band: 6p21.32
Quick LinksEntrez ID:4855; OMIM: 164951; Uniprot ID:NOTC4_HUMAN; ENSEMBL ID: ENSG00000204301; HGNC ID: 7884
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NOTCH4|4855|nucleotide
ATGCAGCCCCCTTCACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTATGTGTCTCAGTGGTCAGACCCAGAGGGCTGCTGTGTGGGAGTTTCCCAGAACCCTGT
GCCAATGGAGGCACCTGCCTGAGCCTGTCTCTGGGACAAGGGACCTGCCAGTGTGCCCCTGGCTTCCTGGGTGAGACGTGCCAGTTTCCTGACCCCTGCCAGAAC
GCCCAGCTCTGCCAAAATGGAGGCAGCTGCCAAGCCCTGCTTCCCGCTCCCCTAGGGCTCCCCAGCTCTCCCTCTCCATTGACACCCAGCTTCTTGTGCACTTGC
CTCCCTGGCTTCACTGGTGAGAGATGCCAGGCCAAGCTTGAAGACCCTTGTCCTCCCTCCTTCTGTTCCAAAAGGGGCCGCTGCCACATCCAGGCCTCGGGCCGC
CCACAGTGCTCCTGCATGCCTGGATGGACAGGTGAGCAGTGCCAGCTTCGGGACTTCTGTTCAGCCAACCCATGTGTTAATGGAGGGGTGTGTCTGGCCACATAC
CCCCAGATCCAGTGCCACTGCCCACCGGGCTTCGAGGGCCATGCCTGTGAACGTGATGTCAACGAGTGCTTCCAGGACCCAGGACCCTGCCCCAAAGGCACCTCC
TGCCATAACACCCTGGGCTCCTTCCAGTGCCTCTGCCCTGTGGGGCAGGAGGGTCCACGTTGTGAGCTGCGGGCAGGACCCTGCCCTCCTAGGGGCTGTTCGAAT
GGGGGCACCTGCCAGCTGATGCCAGAGAAAGACTCCACCTTTCACCTCTGCCTCTGTCCCCCAGGTTTCATAGGCCCAGACTGTGAGGTGAATCCAGACAACTGT
GTCAGCCACCAGTGTCAGAATGGGGGCACTTGCCAGGATGGGCTGGACACCTACACCTGCCTCTGCCCAGAAACCTGGACAGGCTGGGACTGCTCCGAAGATGTG
GATGAGTGTGAGACCCAGGGTCCCCCTCACTGCAGAAACGGGGGCACCTGCCAGAACTCTGCTGGTAGCTTTCACTGCGTGTGTGTGAGTGGCTGGGGCGGCACA
AGCTGTGAGGAGAACCTGGATGACTGTATTGCTGCCACCTGTGCCCCGGGATCCACCTGCATTGACCGGGTGGGCTCTTTCTCCTGCCTCTGCCCACCTGGACGC
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>NOTCH4|4855|protein
MQPPSLLLLLLLLLLLCVSVVRPRGLLCGSFPEPCANGGTCLSLSLGQGTCQCAPGFLGETCQFPDPCQNAQLCQNGGSCQALLPAPLGLPSSPSPLTPSFLCTC
LPGFTGERCQAKLEDPCPPSFCSKRGRCHIQASGRPQCSCMPGWTGEQCQLRDFCSANPCVNGGVCLATYPQIQCHCPPGFEGHACERDVNECFQDPGPCPKGTS
CHNTLGSFQCLCPVGQEGPRCELRAGPCPPRGCSNGGTCQLMPEKDSTFHLCLCPPGFIGPDCEVNPDNCVSHQCQNGGTCQDGLDTYTCLCPETWTGWDCSEDV
DECETQGPPHCRNGGTCQNSAGSFHCVCVSGWGGTSCEENLDDCIAATCAPGSTCIDRVGSFSCLCPPGRTGLLCHLEDMCLSQPCHGDAQCSTNPLTGSTLCLC
QPGYSGPTCHQDLDECLMAQQGPSPCEHGGSCLNTPGSFNCLCPPGYTGSRCEADHNECLSQPCHPGSTCLDLLATFHCLCPPGLEGQLCEVETNECASAPCLNH
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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 (2) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top