AutismKB 2.0

Evidence Details for RFX2


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Basic Information Top
Gene Symbol:RFX2 ( FLJ14226 )
Gene Full Name: regulatory factor X, 2 (influences HLA class II expression)
Band: 19p13.3
Quick LinksEntrez ID:5990; OMIM: 142765; Uniprot ID:RFX2_HUMAN; ENSEMBL ID: ENSG00000087903; HGNC ID: 9983
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RFX2|5990|nucleotide
ATGCAGAATTCCGAGGGTGGAGCGGATTCGCCAGCGTCCGTGGCTCTGCGTCCCTCGGCGGCAGCCCCGCCTGTGCCAGCCTCCCCGCAGAGGGTGTTGGTCCAG
GCAGCCAGCTCCAATCCCAAAGGGGCCCAGATGCAGCCGATCTCCCTCCCCAGAGTTCAGCAGGTACCCCAGCAGGTGCAGCCGGTGCAGCACGTGTATCCTGCC
CAGGTGCAGTACGTGGAAGGGGGAGACGCCGTCTACACCAATGGAGCCATACGAACAGCCTACACCTACAACCCCGAGCCTCAGATGTACGCCCCCAGCAGCACG
GCTTCTTACTTCGAGGCCCCAGGCGGTGCCCAGGTGACCGTGGCAGCCTCGTCCCCGCCAGCGGTCCCCTCCCACAGCATGGTGGGCATCACCATGGATGTCGGG
GGGAGCCCCATCGTCTCCAGCGCGGGAGCCTATCTCATCCACGGGGGGATGGACAGCACCAGACACTCCCTGGCCCACACCTCCCGCTCATCGCCCGCCACGCTT
GAAATGGCGATTGAAAACCTCCAAAAAAGCGAAGGAATCACATCACACAAAAGCGGTTTACTCAACAGCCATCTCCAGTGGCTGTTGGATAATTATGAAACAGCG
GAAGGTGTGAGTCTCCCCAGAAGTTCTCTTTACAACCACTACCTTCGGCACTGCCAGGAGCACAAGCTAGACCCAGTGAACGCCGCCTCCTTCGGGAAACTGATC
CGTTCTGTGTTTATGGGGCTGAGAACGCGGCGGCTGGGCACCAGGGGCAACTCGAAGTACCATTACTATGGGATTCGTCTGAAGCCGGACTCACCACTGAACCGG
CTGCAGGAGGACACGCAGTACATGGCCATGCGGCAGCAGCCCATGCACCAGAAGCCCAGGTACCGGCCAGCCCAGAAGACGGACAGCCTCGGGGACAGCGGCTCC
CACAGCGGCCTGCACAGCACTCCGGAACAGACCATGGCCGTGCAGAGCCAGCACCACCAGCAGTACATAGATGTCTCCCACGTCTTCCCCGAGTTCCCAGCGCCC
GACCTGGGCAGCTTCCTGCTGCAGGACGGCGTCACACTGCACGACGTCAAGGCCCTGCAGCTGGTGTACAGACGGCACTGCGAGGCAACTGTAGATGTGGTGATG
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>RFX2|5990|protein
MQNSEGGADSPASVALRPSAAAPPVPASPQRVLVQAASSNPKGAQMQPISLPRVQQVPQQVQPVQHVYPAQVQYVEGGDAVYTNGAIRTAYTYNPEPQMYAPSST
ASYFEAPGGAQVTVAASSPPAVPSHSMVGITMDVGGSPIVSSAGAYLIHGGMDSTRHSLAHTSRSSPATLEMAIENLQKSEGITSHKSGLLNSHLQWLLDNYETA
EGVSLPRSSLYNHYLRHCQEHKLDPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGIRLKPDSPLNRLQEDTQYMAMRQQPMHQKPRYRPAQKTDSLGDSGS
HSGLHSTPEQTMAVQSQHHQQYIDVSHVFPEFPAPDLGSFLLQDGVTLHDVKALQLVYRRHCEATVDVVMNLQFHYIEKLWLSFWNSKASSSDGPTSLPASDEDP
EGAVLPKDKLISLCQCDPILRWMRSCDHILYQALVEILIPDVLRPVPSTLTQAIRNFAKSLEGWLTNAMSDFPQQVIQTKVGVVSAFAQTLRRYTSLNHLAQAAR
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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 (0) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top