AutismKB 2.0

Evidence Details for RBFOX1


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Basic Information Top
Gene Symbol:RBFOX1 ( A2BP1,FOX-1,FOX1,HRNBP1 )
Gene Full Name: RNA binding protein, fox-1 homolog (C. elegans) 1
Band: 16p13.3
Quick LinksEntrez ID:54715; OMIM: 605104; Uniprot ID:RFOX1_HUMAN; ENSEMBL ID: ENSG00000078328; HGNC ID: 18222
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBFOX1|54715|nucleotide
ATGAATTGTGAAAGAGAGCAGCTAAGGGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAAC
GGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAG
ACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAA
CCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTT
GGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAA
TTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAA
TTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGTGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTG
CGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCA
GACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTAC
CACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTC
GTTCTTTCTTCATTGCAGGCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAA
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>RBFOX1|54715|protein
MNCEREQLRGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQ
PSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWK
LNPVVGAVYSPEFYAVPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPY
HHALAPAPTYGVGAMNAFAPLTDAKTRSHADDVGLVLSSLQASIYRGGYNRFAPY

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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 (6) 2 (5) 0 (2) 2 (2) 0 (1) 0 (0) 0 (1) 2 (2) 28 (19)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Kanduri C, 2016 Finnish -autism 83 - - - 257 288 545
Linkage Studies Top