AutismKB 2.0

Evidence Details for NBEAL2


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Basic Information Top
Gene Symbol:NBEAL2 ( KIAA0540 )
Gene Full Name: neurobeachin-like 2
Band: 3p21.31
Quick LinksEntrez ID:23218; OMIM: NA; Uniprot ID:NBEL2_HUMAN; ENSEMBL ID: ENSG00000160796; HGNC ID: 31928
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NBEAL2|23218|nucleotide
ATGGCCGCCTCGGAGCGGCTGTACGAGTTGTGGCTGCTCTACTACGCGCAGAAGGACCTGGGTTACCTGCAGCAGTGGCTGAAGGCCTTTGTAGGTGCCTTCAAG
AAGAGCATCTCACTGTCCTCTCTGGAGCCACGAAGGCCAGAGGAGGCAGGTGCAGAGGTCCCGCTGCTACCACTGGATGAGCTGCATGTGCTGGCCGAACAGCTG
CACCAGGCTGACCTGGAGCAAGCCCTCCTGCTGCTCAAGCTCTTCATCATTCTCTGCAGGAACCTGGAGAACATAGAGGCAGGCCGGGGCCAAGTGCTAGTGCCC
CGAGTGCTGGCACTGTTGACCAAGTTGGTGGCGGAGCTGAAAGGATGCCCACCACCCCAGGGCCGAGGCACGCAGTTGGAGAATGTGGCCCTACATGCTCTGCTT
CTCTGCGAGGGCCTCTTTGACCCTTACCAAACCTGGCGGCGCCAGCGCAGTGGGGAAGTCATCAGCTCCAAGGAGAAGAGCAAATACAAGTTCCCTCCTGCTGCT
TTGCCCCAGGAATTCAGCGCCTTCTTCCAAGAGAGCCTACAGAATGCAGACCACTTGCCTCCCATACTGCTGTTACGTCTCATCCACCTCTTCTGCGCCGTCCTC
GCTGGAGGAAAGGAGAACGGGCAGATGGCTGTAAGTGATGGCTCTGTGAAGGGCCTGCTGAGTGTGGTGCGGGGCTGGAGCCGTGGGCCAGCCCCGGACCCGTGC
CTAGTGCCACTGGCTCTAGAGGCACTGGTAGGTGCAGTCCATGTCTTGCATGCCAGCCGCGCACCTCCTCGTGGCCCAGAGCTTCGTGCCCTGCTTGAGAGCTAC
TTCCATGTCCTTAATGCTGACTGGCCAGCTGGTCTGAGCTCAGGCCCCGAAGAGGCCCTTGTCACCCTCCGGGTCAGCATGCTCGACGCCATCCCCATGATGCTG
GCATGTGAAGACCGGCCAGTGCTGCAAGCCACCTTCCTCAGCAACAATTGCTTTGAACACCTCACTCGGCTCATTCAGAACAGCAAGCTGTACCTGCAGTCCCGG
GCGCCCCCCGAGGGGGACAGTGACCTGGCTACCCGGTTACTGACTGAGCCCGATGTCCAAAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTC
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>NBEAL2|23218|protein
MAASERLYELWLLYYAQKDLGYLQQWLKAFVGAFKKSISLSSLEPRRPEEAGAEVPLLPLDELHVLAEQLHQADLEQALLLLKLFIILCRNLENIEAGRGQVLVP
RVLALLTKLVAELKGCPPPQGRGTQLENVALHALLLCEGLFDPYQTWRRQRSGEVISSKEKSKYKFPPAALPQEFSAFFQESLQNADHLPPILLLRLIHLFCAVL
AGGKENGQMAVSDGSVKGLLSVVRGWSRGPAPDPCLVPLALEALVGAVHVLHASRAPPRGPELRALLESYFHVLNADWPAGLSSGPEEALVTLRVSMLDAIPMML
ACEDRPVLQATFLSNNCFEHLTRLIQNSKLYLQSRAPPEGDSDLATRLLTEPDVQKVLDQDTDAIAVHVVRVLTCIMSDSPSAKEVFKERIGYPHLQEVLQSHGP
PTHRLLQELLNMAVEGDHSMCPPPPIRNEQPVLVLAQWLPSLPTAELRLFLAQRLRWLCDSCPASRATCVQAGLVGCLLETLSTGLALEARCQEQLLALLQALGR
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top