AutismKB 2.0

Evidence Details for IRX4


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Basic Information Top
Gene Symbol:IRX4 ( IRXA3,MGC131996 )
Gene Full Name: iroquois homeobox 4
Band: 5p15.33
Quick LinksEntrez ID:50805; OMIM: 606199; Uniprot ID:IRX4_HUMAN; ENSEMBL ID: ENSG00000113430; HGNC ID: 6129
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IRX4|50805|nucleotide
ATGTCCTACCCGCAGTTTGGATACCCCTACTCCTCGGCTCCCCAGTTCTTGATGGCCACCAACTCCCTGAGCACGTGCTGCGAGTCCGGAGGCCGCACGCTGGCG
GACTCCGGGCCCGCCGCCTCGGCCCAGGCGCCGGTCTACTGCCCGGTCTACGAGAGCCGGCTGCTGGCCACCGCGCGCCACGAGCTCAACTCGGCCGCGGCGCTG
GGCGTCTATGGGGGTCCCTATGGCGGATCGCAGGGCTATGGCAACTACGTGACCTACGGCTCGGAGGCGTCCGCCTTCTACTCGCTGAACAGCTTTGATTCCAAG
GATGGTTCGGGATCTGCGCATGGGGGCCTGGCACCAGCCGCTGCCGCCTACTACCCTTACGAGCCAGCTCTGGGCCAGTACCCCTATGACAGGTATGGAACCATG
GACAGCGGCACGCGGCGCAAGAACGCCACGCGCGAGACCACCAGCACGCTCAAGGCCTGGCTGCAGGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAG
ATCATGCTGGCCATCATCACCAAGATGACCCTCACACAGGTCTCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAGGAGAACAAGATGACGTGGCCGCCG
CGGAACAAGTGCGCAGACGAGAAGCGGCCCTACGCGGAGGGCGAGGAGGAGGAGGGGGGCGAGGAGGAGGCGCGGGAGGAGCCCCTCAAGAGCTCCAAGAACGCA
GAGCCCGTGGGCAAAGAGGAGAAGGAGCTGGAGCTTAGTGACTTGGACGACTTCGACCCGCTGGAAGCAGAGCCGCCGGCGTGCGAGCTGAAGCCGCCCTTCCAC
TCCCTGGACGGCGGTCTGGAGCGCGTCCCCGCCGCGCCCGACGGCCCGGTCAAGGAGGCCTCAGGCGCGCTCCGGATGTCTCTGGCCGCGGGTGGCGGAGCTGCT
CTGGACGAGGACCTGGAGAGGGCCCGGAGCTGTCTCCGCAGCGCGGCGGCCGGGCCGGAGCCACTGCCGGGCGCAGAGGGCGGCCCTCAGGTCTGCGAGGCCAAG
CTGGGGTTTGTGCCGGCGGGGGCGTCGGCAGGCCTGGAGGCTAAGCCGCGCATCTGGTCCCTGGCCCACACAGCCACCGCCGCCGCCGCCGCCGCCACCTCCCTG
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>IRX4|50805|protein
MSYPQFGYPYSSAPQFLMATNSLSTCCESGGRTLADSGPAASAQAPVYCPVYESRLLATARHELNSAAALGVYGGPYGGSQGYGNYVTYGSEASAFYSLNSFDSK
DGSGSAHGGLAPAAAAYYPYEPALGQYPYDRYGTMDSGTRRKNATRETTSTLKAWLQEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWPP
RNKCADEKRPYAEGEEEEGGEEEAREEPLKSSKNAEPVGKEEKELELSDLDDFDPLEAEPPACELKPPFHSLDGGLERVPAAPDGPVKEASGALRMSLAAGGGAA
LDEDLERARSCLRSAAAGPEPLPGAEGGPQVCEAKLGFVPAGASAGLEAKPRIWSLAHTATAAAAAATSLSQTEFPSCMLKRQGPAAPAAVSSAPATSPSVALPH
SGALDRHQDSPVTSLRNWVDGVFHDPILRHSTLNQAWATAKGALLDPGPLGRSLGAGANVLTAPLARAFPPAVPQDAPAAGAARELLALPKAGGKPFCA
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (4)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top