AutismKB 2.0

Evidence Details for NBEAL1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NBEAL1 ( A530083I02Rik,ALS2CR16,ALS2CR17,FLJ22838,FLJ26555,MGC164581,MGC168834 )
Gene Full Name: neurobeachin-like 1
Band: 2q33.2
Quick LinksEntrez ID:65065; OMIM: 609816; Uniprot ID:NBEL1_HUMAN; ENSEMBL ID: ENSG00000144426; HGNC ID: 20681
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NBEAL1|65065|nucleotide
ATGGCATCCAGAGAGAGGCTCTTTGAACTTTGGATGCTTTATTGTACAAAGAAAGATCCAGATTACCTGAAGCTGTGGTTGGACACTTTTGTTTCTAGCTATGAA
CAATTTTTAGACGTTGACTTTGAAAAGCTGCCTACCAGGGTAGATGATATGCCTCCAGGAATATCTCTGCTTCCTGATAATATTCTGCAGGTTCTGAGGATCCAG
CTTCTACAGTGTGTTCAGAAAATGGCAGATGGGTTAGAGGAACAACAGCAAGCCTTGTCAATTTTGCTTGTCAAGTTCTTCATTATTCTTTGCAGAAATCTATCA
AATGTGGAAGAAATTGGGACTTGCTCGTACATTAATTATGTCATCACCATGACAACACTCTATATTCAGCAATTAAAAAGCAAAAAAAAAGAGAAGGAAATGGCA
GATCAGACATGTATTGAAGAATTTGTGATCCACGCATTGGCATTTTGTGAAAGCTTATATGATCCATATCGGAATTGGAGACATAGAATTTCAGGACGAATCCTT
AGTACTGTGGAAAAGAGCAGACAGAAATATAAACCAGCTTCTCTCACAGTGGAATTCGTCCCTTTCTTTTATCAATGTTTTCAGGAAAGTGAACATCTCAAGGAA
AGTCTTAAATGTTGCTTATTGCATCTCTTTGGAGCCATTGTAGCCGGTGGGCAGAGGAATGCTTTGCAAGCAATTTCTCCAGCCACTATGGAAGTTCTTATGCGA
GTATTGGCAGATTGTGATTCCTGGGAGGATGGAGATCCTGAAGAAGTGGGTAGGAAGGCAGAACTAACTCTGAAGTGCCTTACAGAAGTGGTACATATCCTTCTC
AGTAGCAACTCTGATCAGCGTCAAGTGGAAACCAGTACTATTCTGGAGAACTATTTTAAATTGCTAAATTCAGATCATTCAGCTTTACCTAATCAAAGGAGGTCC
AGACAGTGGGAAAACCGATTTATTGCTCTACAGATCAAAATGCTGAATACCATCACAGCCATGTTAGATTGTACAGATAGACCTGTTCTTCAGGCCATTTTTCTT
AACAGCAATTGCTTTGAACATCTCATACGACTGCTACAGAACTGCAAGGTGTTTCAGGGACAATTGGATTGTTTGGCCATATCAACCATTCAGGCTTTGACCGCA
Show »

>NBEAL1|65065|protein
MASRERLFELWMLYCTKKDPDYLKLWLDTFVSSYEQFLDVDFEKLPTRVDDMPPGISLLPDNILQVLRIQLLQCVQKMADGLEEQQQALSILLVKFFIILCRNLS
NVEEIGTCSYINYVITMTTLYIQQLKSKKKEKEMADQTCIEEFVIHALAFCESLYDPYRNWRHRISGRILSTVEKSRQKYKPASLTVEFVPFFYQCFQESEHLKE
SLKCCLLHLFGAIVAGGQRNALQAISPATMEVLMRVLADCDSWEDGDPEEVGRKAELTLKCLTEVVHILLSSNSDQRQVETSTILENYFKLLNSDHSALPNQRRS
RQWENRFIALQIKMLNTITAMLDCTDRPVLQAIFLNSNCFEHLIRLLQNCKVFQGQLDCLAISTIQALTAVMNKSPAAKEVFKERIGYTHMLEVLKSLGQPPLEL
LKELMNMAVEGDHTSVGILGISNVQPLLLLIQWLPELQSHDLQIFISDWLKRICCINRQSRTTCVNANMGIRIIETLDLHSSLHQTCAENLIAIHGSLGSQSVSS
Show »

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 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top