AutismKB 2.0

Evidence Details for CELSR3


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Basic Information Top
Gene Symbol:CELSR3 ( CDHF11,EGFL1,FMI1,HFMI1,MEGF2,RESDA1 )
Gene Full Name: cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila)
Band: 3p21.31
Quick LinksEntrez ID:1951; OMIM: 604264; Uniprot ID:CELR3_HUMAN; ENSEMBL ID: ENSG00000008300; HGNC ID: 3230
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CELSR3|1951|nucleotide
ATGATGGCGAGGCGGCCGCCGTGGCGGGGCCTCGGGGGACGGTCGACCCCCATACTCCTGCTCCTTCTCCTCTCTTTGTTCCCCCTCAGCCAGGAGGAGCTGGGG
GGCGGTGGGCACCAGGGCTGGGACCCAGGCTTAGCTGCCACTACGGGGCCAAGGGCGCATATCGGTGGCGGAGCCTTAGCTCTTTGTCCGGAGTCTTCCGGGGTC
CGGGAGGATGGGGGGCCTGGCCTGGGGGTCAGGGAGCCTATCTTCGTGGGGCTCCGAGGGAGAAGGCAAAGCGCCCGGAATAGTCGAGGGCCCCCTGAGCAGCCG
AATGAGGAGCTGGGGATTGAACACGGCGTCCAGCCATTGGGCAGCCGCGAACGAGAGACAGGACAGGGACCAGGGTCTGTGTTATACTGGCGCCCAGAGGTCTCC
TCTTGCGGGCGGACAGGACCTTTGCAAAGAGGTAGTCTGTCACCAGGGGCTCTGTCCTCAGGGGTCCCGGGCTCGGGGAACAGCTCGCCCCTCCCTTCAGACTTT
TTGATTCGGCACCACGGTCCCAAGCCGGTGTCCTCCCAGCGGAACGCTGGGACAGGCTCCCGCAAAAGAGTGGGCACCGCGCGCTGCTGTGGGGAATTATGGGCA
ACAGGGAGCAAGGGTCAGGGCGAGAGAGCCACGACATCCGGAGCAGAAAGGACAGCCCCCCGGCGGAACTGTCTTCCAGGGGCCTCGGGATCTGGCCCCGAGCTG
GATTCAGCACCACGCACGGCGAGGACAGCTCCTGCATCAGGTTCAGCACCCCGCGAGTCTCGGACAGCTCCCGAGCCGGCGCCCAAGCGCATGCGCTCCCGGGGT
CTCTTCCGCTGCCGCTTCCTCCCGCAGCGCCCCGGGCCGCGTCCCCCGGGACTCCCGGCCCGTCCTGAAGCCAGGAAAGTAACCTCGGCGAACCGGGCACGCTTT
CGTCGCGCCGCAAACCGCCACCCGCAGTTTCCGCAGTACAACTACCAGACGCTGGTGCCGGAGAATGAGGCAGCAGGCACCGCGGTGCTACGCGTGGTTGCTCAG
GACCCGGACGCCGGCGAGGCCGGGCGCCTAGTCTACTCGCTGGCGGCACTCATGAACAGCCGCTCGCTGGAGCTGTTCAGCATCGACCCGCAGAGCGGCCTTATC
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>CELSR3|1951|protein
MMARRPPWRGLGGRSTPILLLLLLSLFPLSQEELGGGGHQGWDPGLAATTGPRAHIGGGALALCPESSGVREDGGPGLGVREPIFVGLRGRRQSARNSRGPPEQP
NEELGIEHGVQPLGSRERETGQGPGSVLYWRPEVSSCGRTGPLQRGSLSPGALSSGVPGSGNSSPLPSDFLIRHHGPKPVSSQRNAGTGSRKRVGTARCCGELWA
TGSKGQGERATTSGAERTAPRRNCLPGASGSGPELDSAPRTARTAPASGSAPRESRTAPEPAPKRMRSRGLFRCRFLPQRPGPRPPGLPARPEARKVTSANRARF
RRAANRHPQFPQYNYQTLVPENEAAGTAVLRVVAQDPDAGEAGRLVYSLAALMNSRSLELFSIDPQSGLIRTAAALDRESMERHYLRVTAQDHGSPRLSATTMVA
VTVADRNDHSPVFEQAQYRETLRENVEEGYPILQLRATDGDAPPNANLRYRFVGPPAARAAAAAAFEIDPRSGLISTSGRVDREHMESYELVVEASDQGQEPGPR
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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) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top