Evidence Details for CELSR2

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Basic Information Top

Gene Symbol:	CELSR2 ( CDHF10,EGFL2,FLJ34118,FLJ42737,FLJ45143,FLJ45845,Flamingo1,KIAA0279,MEGF3 )
Gene Full Name:	cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)
Band:	1p13.3
Quick Links	Entrez ID:1952; OMIM: 604265; Uniprot ID:CELR2_HUMAN; ENSEMBL ID: ENSG00000143126; HGNC ID: 3231
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>CELSR2|1952|nucleotide
ATGCGGAGCCCGGCCACCGGCGTCCCCCTCCCAACGCCGCCGCCGCCGCTGCTGCTGCTGTTGCTGCTGCTGCTGCCGCCGCCACTATTGGGAGACCAAGTGGGG
CCCTGTCGTTCCTTGGGGTCCAGGGGACGAGGCTCTTCGGGGGCCTGCGCCCCCATGGGCTGGCTCTGTCCATCCTCAGCGTCGAACCTCTGGCTCTACACCAGC
CGCTGCAGGGATGCGGGCACTGAGCTGACTGGCCACCTGGTACCCCACCACGATGGCCTGAGGGTTTGGTGTCCAGAATCCGAGGCCCATATTCCCCTACCACCA
GCTCCTGAAGGCTGCCCCTGGAGCTGTCGCCTCCTGGGCATTGGAGGCCACCTTTCCCCACAGGGCAAGCTCACACTGCCCGAGGAGCACCCGTGCTTAAAGGCT
CCACGGCTCAGATGCCAGTCCTGCAAGCTGGCACAGGCCCCCGGGCTCAGGGCAGGGGAAAGGTCACCAGAAGAGTCCCTGGGTGGGCGTCGGAAAAGGAATGTA
AATACAGCCCCCCAGTTCCAGCCCCCCAGCTACCAGGCCACAGTGCCGGAGAACCAGCCAGCAGGCACCCCTGTTGCATCCCTGAGGGCCATCGACCCGGACGAG
GGTGAGGCAGGTCGACTGGAGTACACCATGGATGCCCTCTTTGATAGCCGCTCCAACCAGTTCTTCTCCCTGGACCCAGTCACTGGTGCAGTAACCACAGCCGAG
GAGCTGGATCGTGAGACCAAGAGCACCCACGTCTTCAGGGTCACGGCGCAGGACCACGGCATGCCCCGACGAAGTGCCCTGGCTACACTCACCATCTTGGTTACT
GACACCAATGACCATGACCCTGTGTTCGAGCAGCAGGAGTACAAGGAGAGCCTCAGGGAGAACCTGGAGGTTGGCTATGAGGTGCTCACTGTCAGGGCCACGGAT
GGTGATGCCCCTCCCAATGCCAATATTCTGTACCGCCTGCTGGAGGGGTCTGGGGGCAGCCCCTCTGAAGTCTTTGAGATCGACCCTCGCTCTGGGGTGATCCGA
ACCCGTGGCCCTGTGGATCGGGAAGAGGTGGAATCCTACCAGCTGACGGTAGAGGCAAGTGACCAGGGTCGGGACCCGGGTCCTCGGAGTACCACAGCCGCTGTT
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>CELSR2|1952|protein
MRSPATGVPLPTPPPPLLLLLLLLLPPPLLGDQVGPCRSLGSRGRGSSGACAPMGWLCPSSASNLWLYTSRCRDAGTELTGHLVPHHDGLRVWCPESEAHIPLPP
APEGCPWSCRLLGIGGHLSPQGKLTLPEEHPCLKAPRLRCQSCKLAQAPGLRAGERSPEESLGGRRKRNVNTAPQFQPPSYQATVPENQPAGTPVASLRAIDPDE
GEAGRLEYTMDALFDSRSNQFFSLDPVTGAVTTAEELDRETKSTHVFRVTAQDHGMPRRSALATLTILVTDTNDHDPVFEQQEYKESLRENLEVGYEVLTVRATD
GDAPPNANILYRLLEGSGGSPSEVFEIDPRSGVIRTRGPVDREEVESYQLTVEASDQGRDPGPRSTTAAVFLSVEDDNDNAPQFSEKRYVVQVREDVTPGAPVLR
VTASDRDKGSNAVVHYSIMSGNARGQFYLDAQTGALDVVSPLDYETTKEYTLRVRAQDGGRPPLSNVSGLVTVQVLDINDNAPIFVSTPFQATVLESVPLGYLVL
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

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)	0 (0)	0 (0)	0 (1)	0 (0)	0 (0)	0 (1)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	Platform	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No matched CNVs !

Linkage Studies Top

AutismKB 2.0

Evidence Details for CELSR2