AutismKB 2.0

Evidence Details for HECW1


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Basic Information Top
Gene Symbol:HECW1 ( KIAA0322,NEDL1 )
Gene Full Name: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
Band: 7p14.1-p13
Quick LinksEntrez ID:23072; OMIM: 610384; Uniprot ID:HECW1_HUMAN; ENSEMBL ID: ENSG00000002746; HGNC ID: 22195
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HECW1|23072|nucleotide
ATGCTGCTGCACCTGTGTAGTGTGAAGAATCTGTACCAGAACAGGTTTTTAGGCCTGGCCGCCATGGCGTCTCCTTCTAGAAACTCCCAGAGCCGACGCCGGTGC
AAGGAGCCGCTCCGATACAGCTACAACCCCGACCAGTTCCACAACATGGACCTCAGGGGCGGCCCCCACGATGGCGTCACCATTCCCCGCTCCACCAGCGACACT
GACCTGGTCACCTCGGACAGCCGCTCCACGCTCATGGTCAGCAGCTCCTACTATTCCATCGGGCACTCTCAGGACCTGGTCATCCACTGGGACATAAAGGAGGAA
GTGGACGCTGGGGACTGGATTGGCATGTACCTCATTGATGAGGTCTTGTCCGAAAACTTTCTGGACTATAAAAACCGTGGAGTCAATGGTTCTCATCGGGGCCAG
ATCATCTGGAAGATCGATGCCAGCTCGTACTTTGTGGAACCTGAAACTAAGATCTGCTTCAAATACTACCATGGAGTGAGTGGGGCCCTGCGAGCAACCACCCCC
AGTGTCACGGTCAAAAACTCGGCAGCTCCTATTTTTAAAAGCATTGGTGCTGATGAGACCGTCCAAGGACAAGGAAGTCGGAGGCTGATCAGCTTCTCTCTCTCA
GATTTCCAAGCCATGGGGTTGAAGAAAGGGATGTTTTTCAACCCAGACCCTTATCTGAAGATTTCCATTCAGCCTGGGAAACACAGCATCTTCCCCGCCCTCCCT
CACCATGGACAGGAGAGGAGATCCAAGATCATAGGCAACACCGTGAACCCCATCTGGCAGGCCGAGCAATTCAGTTTTGTGTCCTTGCCCACTGACGTGCTGGAA
ATTGAGGTGAAGGACAAGTTTGCCAAGAGCCGCCCCATCATCAAGCGCTTCTTGGGAAAGCTGTCGATGCCCGTTCAAAGACTCCTGGAGAGACACGCCATAGGG
GATAGGGTGGTCAGCTACACACTTGGCCGCAGGCTTCCAACAGATCATGTGAGTGGACAGCTGCAATTCCGATTTGAGATCACTTCCTCCATCCACCCAGATGAT
GAGGAGATTTCCCTGAGTACCGAGCCTGAGTCAGCCCAAATTCAGGACAGCCCCATGAACAACCTGATGGAAAGCGGCAGTGGGGAACCTCGGTCTGAGGCACCA
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>HECW1|23072|protein
MLLHLCSVKNLYQNRFLGLAAMASPSRNSQSRRRCKEPLRYSYNPDQFHNMDLRGGPHDGVTIPRSTSDTDLVTSDSRSTLMVSSSYYSIGHSQDLVIHWDIKEE
VDAGDWIGMYLIDEVLSENFLDYKNRGVNGSHRGQIIWKIDASSYFVEPETKICFKYYHGVSGALRATTPSVTVKNSAAPIFKSIGADETVQGQGSRRLISFSLS
DFQAMGLKKGMFFNPDPYLKISIQPGKHSIFPALPHHGQERRSKIIGNTVNPIWQAEQFSFVSLPTDVLEIEVKDKFAKSRPIIKRFLGKLSMPVQRLLERHAIG
DRVVSYTLGRRLPTDHVSGQLQFRFEITSSIHPDDEEISLSTEPESAQIQDSPMNNLMESGSGEPRSEAPESSESWKPEQLGEGSVPDGPGNQSIELSRPAEEAA
VITEAGDQGMVSVGPEGAGELLAQVQKDIQPAPSAEELAEQLDLGEEASALLLEDGEAPASTKEEPLEEEATTQSRAGREEEEKEQEEEGDVSTLEQGEGRLQLR
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 4 (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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top