AutismKB 2.0

Evidence Details for HELQ


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Basic Information Top
Gene Symbol:HELQ ( HEL308,MGC20604 )
Gene Full Name: helicase, POLQ-like
Band: 4q21.23
Quick LinksEntrez ID:113510; OMIM: 606769; Uniprot ID:HELQ_HUMAN; ENSEMBL ID: ENSG00000163312; HGNC ID: 18536
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HELQ|113510|nucleotide
ATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAGCTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGAG
CCCGGAGATGAGGGGAAAGAGGAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTACAGCCCCTTCTACTCTCAGAT
TCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGACCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTG
GACATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAACAAAAATATATGCAACTCCCTGAACATAAGAAACATGCT
ACAGACTTTGCCACTGAAAATCTTTGCTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACTGATAAGCACACAGAG
AACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTTTGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCA
AATGATTTGGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAACTGCCCCATAATTGCATAGAGCAACCCCAGCAA
AATGATGAGTCCTCTTCCAAAGTCAGAACTAGTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGCGAAGGCCCAG
ACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAAATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCT
TTTTATTCATTACCCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGAATGGCAACATACTTGTTTAACATTGAATTCTGTGCAA
GAAAGAAAAAATTTAATATATTCCTTGCCAACAAGTGGTGGAAAAACCCTCGTGGCTGAGATTTTAATGCTGCAAGAACTGCTTTGCTGTCGGAAAGATGTTTTA
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>HELQ|113510|protein
MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELEPGDEGKEEEEMVAENRRRKTAGVLPVEVQPLLLSDSPECLVLGGGDTNPDLLRHMPTDRGVGDQPNDSEV
DMFGDYDSFTENSFIAQVDDLEQKYMQLPEHKKHATDFATENLCSESIKNKLSITTIGNLTELQTDKHTENQSGYEGVTIEPGADLLYDVPSSQAIYFENLQNSS
NDLGDHSMKERDWKSSSHNTVNEELPHNCIEQPQQNDESSSKVRTSSDMNRRKSIKDHLKNAMTGNAKAQTPIFSRSKQLKDTLLSEEINVAKKTVESSSNDLGP
FYSLPSKVRDLYAQFKGIEKLYEWQHTCLTLNSVQERKNLIYSLPTSGGKTLVAEILMLQELLCCRKDVLMILPYVAIVQEKISGLSSFGIELGFFVEEYAGSKG
RFPPTKRREKKSLYIATIEKGHSLVNSLIETGRIDSLGLVVVDELHMIGEGSRGATLEMTLAKILYTSKTTQIIGMSATLNNVEDLQKFLQAEYYTSQFRPVELK
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top