AutismKB 2.0

Evidence Details for HECW2


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Basic Information Top
Gene Symbol:HECW2 ( DKFZp686M17164,NEDL2 )
Gene Full Name: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
Band: 2q32.3
Quick LinksEntrez ID:57520; OMIM: NA; Uniprot ID:HECW2_HUMAN; ENSEMBL ID: ENSG00000138411; HGNC ID: 29853
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HECW2|57520|nucleotide
ATGGCTAGTTCAGCCCGGGAGCACCTGCTTTTTGTGAGGCGTCGAAATCCCCAGATGCGGTACACATTGAGCCCAGAGAACCTCCAGAGCCTTGCCGCCCAGAGC
TCCATGCCAGAGAACATGACCCTGCAGCGGGCCAACAGCGACACCGACCTGGTGACTTCTGAGAGCCGCTCCAGCTTAACTGCCAGCATGTACGAGTACACGCTG
GGGCAAGCCCAGAACCTCATTATCTTCTGGGACATTAAAGAGGAGGTGGACCCCAGTGATTGGATTGGACTTTATCATATAGATGAGAATTCTCCAGCCAACTTC
TGGGATTCTAAGAACAGGGGTGTGACTGGAACACAAAAAGGGCAAATTGTATGGAGAATTGAGCCTGGGCCCTATTTCATGGAACCGGAGATAAAAATCTGTTTT
AAATATTACCACGGCATTAGTGGAGCCCTGCGAGCCACGACCCCCTGCATCACCGTGAAGAACCCAGCTGTGATGATGGGGGCAGAAGGCATGGAGGGAGGTGCT
TCAGGAAACCTGCATTCTCGAAAACTTGTTAGCTTTACATTGTCAGATCTTAGGGCAGTTGGGCTAAAGAAAGGGATGTTCTTCAATCCTGACCCTTATCTTAAG
ATGTCAATTCAGCCAGGAAAGAAGAGCAGTTTCCCCACCTGTGCCCACCACGGGCAGGAGAGACGGTCTACTATCATCAGTAACACCACCAATCCAATTTGGCAC
CGAGAGAAATATTCCTTTTTTGCACTTCTTACTGATGTCTTAGAAATTGAAATTAAAGACAAATTTGCCAAGAGCCGTCCCATCATCAAGCGTTTTCTGGGGAAA
CTAACCATTCCAGTCCAGAGGCTGCTGGAGCGACAAGCCATCGGTGATCAAATGCTCAGCTACAACCTTGGCAGAAGGCTCCCAGCTGACCACGTGAGTGGGTAC
CTCCAGTTTAAAGTGGAGGTTACGTCTTCTGTTCATGAAGATGCCTCTCCAGAAGCTGTTGGCACAATACTTGGAGTCAATTCTGTGAATGGAGACTTAGGTAGC
CCTTCCGATGACGAGGACATGCCAGGGAGCCATCACGACAGCCAGGTGTGCTCTAATGGGCCAGTTTCTGAGGACAGTGCTGCCGATGGAACCCCCAAGCATTCA
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>HECW2|57520|protein
MASSAREHLLFVRRRNPQMRYTLSPENLQSLAAQSSMPENMTLQRANSDTDLVTSESRSSLTASMYEYTLGQAQNLIIFWDIKEEVDPSDWIGLYHIDENSPANF
WDSKNRGVTGTQKGQIVWRIEPGPYFMEPEIKICFKYYHGISGALRATTPCITVKNPAVMMGAEGMEGGASGNLHSRKLVSFTLSDLRAVGLKKGMFFNPDPYLK
MSIQPGKKSSFPTCAHHGQERRSTIISNTTNPIWHREKYSFFALLTDVLEIEIKDKFAKSRPIIKRFLGKLTIPVQRLLERQAIGDQMLSYNLGRRLPADHVSGY
LQFKVEVTSSVHEDASPEAVGTILGVNSVNGDLGSPSDDEDMPGSHHDSQVCSNGPVSEDSAADGTPKHSFRTSSTLEIDTEELTSTSSRTSPPRGRQDSLNDYL
DAIEHNGHSRPGTATCSERSMGASPKLRSSFPTDTRLNAMLHIDSDEEDHEFQQDLGYPSSLEEEGGLIMFSRASRADDGSLTSQTKLEDNPVENEEASTHEAAS
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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) 1 (2) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top