AutismKB 2.0

Evidence Details for NEBL


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Basic Information Top
Gene Symbol:NEBL ( FLJ53769,LASP2,LNEBL,MGC119746,MGC119747 )
Gene Full Name: nebulette
Band: 10p12.31
Quick LinksEntrez ID:10529; OMIM: 605491; Uniprot ID:NEBL_HUMAN; ENSEMBL ID: ENSG00000078114; HGNC ID: 16932
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NEBL|10529|nucleotide
ATGAACCCCCAGTGCGCCCGTTGCGGAAAAGTCGTGTATCCCACCGAGAAAGTCAACTGCCTGGATAAGTATTGGCATAAAGGATGTTTCCATTGTGAGGTCTGC
AAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGCACACTACCCGAAGCAGTCCTTCACCACGGTGGCAGATACACCTGAA
AATCTTCGCCTGAAGCAGCAAAGTGAATTGCAGAGTCAGGTCAAGTACAAAAGAGATTTTGAAGAAAGCAAAGGGAGGGGCTTCAGCATCGTCACGGACACTCCT
GAGCTACAGAGACTGAAGAGGACTCAGGAGCAAATCAGTAATGTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGAT
CCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATT
GTTGCACCTGTTCTTCCCGGAGCCTATCAGCAAAGCCATTCCCAAGGCTATGGCTACATGCACCAGACCAGTGTGTCATCCATGAGATCAATGCAGCATTCACCA
AATCTAGACCTACCGAGCCATGTACGATTACAGTGCCCAGGATGA




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>NEBL|10529|protein
MNPQCARCGKVVYPTEKVNCLDKYWHKGCFHCEVCKMALNMNNYKGYEKKPYCNAHYPKQSFTTVADTPENLRLKQQSELQSQVKYKRDFEESKGRGFSIVTDTP
ELQRLKRTQEQISNVKYHEDFEKTKGRGFTPVVDDPVTERVRKNTQVVSDAAYKGVHPHIVEMDRRPGIIVAPVLPGAYQQSHSQGYGYMHQTSVSSMRSMQHSP
NLDLPSHVRLQCPG


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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top