AutismKB 2.0

Evidence Details for CUL5


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Basic Information Top
Gene Symbol:CUL5 ( VACM-1,VACM1 )
Gene Full Name: cullin 5
Band: 11q22.3
Quick LinksEntrez ID:8065; OMIM: 601741; Uniprot ID:CUL5_HUMAN; ENSEMBL ID: ENSG00000166266; HGNC ID: 2556
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CUL5|8065|nucleotide
ATGGCGACGTCTAATCTGTTAAAGAATAAAGGTTCTCTTCAGTTTGAAGACAAATGGGATTTTATGCGCCCGATTGTTTTGAAGCTTTTACGCCAGGAATCTGTT
ACAAAACAGCAGTGGTTTGATCTGTTTTCGGATGTGCATGCAGTCTGTCTTTGGGATGATAAAGGCCCAGCAAAAATTCATCAGGCTTTAAAAGAAGATATTCTT
GAGTTTATTAAGCAAGCACAGGCACGAGTACTGAGCCATCAAGATGATACGGCTTTGCTAAAAGCATATATTGTTGAATGGCGAAAGTTCTTTACACAATGTGAT
ATTTTACCAAAACCTTTTTGTCAACTAGAGATTACTTTAATGGGTAAACAGGGCAGCAATAAAAAATCAAATGTGGAAGACAGTATTGTTCGAAAGCTTATGCTT
GATACATGGAATGAGTCAATCTTTTCAAACATAAAAAACAGACTCCAAGATAGTGCAATGAAGCTGGTACATGCTGAGAGATTGGGAGAAGCTTTTGATTCTCAG
CTGGTTATTGGAGTAAGAGAATCCTATGTTAACCTTTGTTCTAATCCTGAGGATAAACTTCAAATTTATAGGGACAATTTTGAGAAGGCATACTTGGATTCAACA
GAGAGATTTTATAGAACACAAGCACCCTCGTATTTACAACAAAATGGTGTACAGAATTATATGAAATATGCAGATGCTAAATTAAAAGAAGAAGAAAAACGAGCA
CTACGTTATTTAGAAACAAGACGAGAATGTAACTCCGTTGAAGCACTCATGGAATGCTGTGTAAATGCCCTGGTGACATCATTTAAAGAGACTATCTTAGCTGAG
TGCCAAGGCATGATCAAGAGAAATGAAACTGAAAAATTACATTTAATGTTTTCATTGATGGACAAAGTTCCTAATGGTATAGAGCCAATGTTGAAAGACTTGGAG
GAACATATCATTAGTGCTGGCCTGGCAGATATGGTAGCAGCTGCTGAAACTATTACTACTGACTCTGAGAAATACGTTGAGCAGTTACTTACACTATTTAATAGA
TTTAGTAAACTCGTCAAAGAAGCTTTTCAAGATGATCCACGATTTCTTACTGCAAGAGATAAGGCGTATAAAGCAGTTGTTAATGATGCTACCATATTTAAACTT
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>CUL5|8065|protein
MATSNLLKNKGSLQFEDKWDFMRPIVLKLLRQESVTKQQWFDLFSDVHAVCLWDDKGPAKIHQALKEDILEFIKQAQARVLSHQDDTALLKAYIVEWRKFFTQCD
ILPKPFCQLEITLMGKQGSNKKSNVEDSIVRKLMLDTWNESIFSNIKNRLQDSAMKLVHAERLGEAFDSQLVIGVRESYVNLCSNPEDKLQIYRDNFEKAYLDST
ERFYRTQAPSYLQQNGVQNYMKYADAKLKEEEKRALRYLETRRECNSVEALMECCVNALVTSFKETILAECQGMIKRNETEKLHLMFSLMDKVPNGIEPMLKDLE
EHIISAGLADMVAAAETITTDSEKYVEQLLTLFNRFSKLVKEAFQDDPRFLTARDKAYKAVVNDATIFKLELPLKQKGVGLKTQPESKCPELLANYCDMLLRKTP
LSKKLTSEEIEAKLKEVLLVLKYVQNKDVFMRYHKAHLTRRLILDISADSEIEENMVEWLREVGMPADYVNKLARMFQDIKVSEDLNQAFKEMHKNNKLALPADS
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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 (1) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top