AutismKB 2.0

Evidence Details for IRS4


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Basic Information Top
Gene Symbol:IRS4 ( IRS-4,PY160 )
Gene Full Name: insulin receptor substrate 4
Band: Xq22.3
Quick LinksEntrez ID:8471; OMIM: 603510; Uniprot ID:IRS4_HUMAN; ENSEMBL ID: ENSG00000133124; HGNC ID: 6128
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IRS4|8471|nucleotide
ATGGCGAGTTGCTCCTTCACTCGCGACCAAGCGACAAGAAGACTAAGAGGTGCAGCAGCGGCGGCAGCGGCAGCTCTAGCAGCAGTGGTGACCACCCCGCTTCTT
TCCTCGGGAACCCCGACCGCACTCATTGGGACCGGGTCGTCTTGTCCGGGAGCCATGTGGCTCTCCACGGCCACTGGCTCCCGGTCAGACTCCGAGTCCGAAGAG
GAGGACCTGCCCGTCGGGGAGGAAGTCTGCAAACGCGGCTACCTGCGGAAACAGAAGCATGGGCACAGGCGCTACTTCGTGCTCAAACTCGAGACTGCTGACGCC
CCAGCTCGGCTGGAATACTACGAAAATGCCAGGAAGTTCCGGCACAGTGTCCGCGCCGCGGCGGCTGCAGCAGCGGCGGCCGCCTCTGGCGCCGCGATCCCCCCG
CTCATTCCACCGCGGCGCGTGATCACCCTATACCAGTGCTTTTCCGTGAGCCAGCGAGCAGATGCAAGGTACCGACACCTCATTGCTCTTTTCACCCAAGACGAA
TACTTCGCGATGGTGGCCGAGAACGAGTCGGAGCAGGAAAGCTGGTACTTGCTGCTCAGCCGCCTCATCCTCGAGAGCAAGCGCCGCCGCTGCGGCACGCTCGGC
GCGCAGCCGGACGGAGAGCCGGCCGCGCTGGCGGCGGCAGCGGCGGCGGAGCCACCCTTCTATAAAGATGTGTGGCAGGTAATAGTCAAACCCAGGGGGCTGGGG
CACAGAAAAGAGCTGAGCGGCGTGTTCCGGCTGTGTCTAACCGACGAGGAGGTCGTGTTTGTGAGGCTGAACACCGAAGTGGCCAGCGTGGTCGTCCAGCTCCTG
AGCATCCGTCGCTGTGGACACTCGGAGCAGTATTTCTTCTTGGAAGTAGGCAGGTCCACTGTCATCGGTCCGGGAGAGCTCTGGATGCAGGTCGATGACTGTGTG
GTTGCCCAAAACATGCATGAGCTGTTTTTGGAGAAGATGAGAGCCTTGTGTGCAGACGAATACAGAGCCCGCTGCCGCAGCTACAGCATCAGCATCGGCGCCCAC
CTGTTAACCCTGCTGTCCGCTAGGAGGCACCTGGGCTTGGTGCCGCTCGAGCCGGGAGGCTGGCTCAGAAGGTCCCGCTTTGAGCAGTTTTGCCACCTCAGGGCC
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>IRS4|8471|protein
MASCSFTRDQATRRLRGAAAAAAAALAAVVTTPLLSSGTPTALIGTGSSCPGAMWLSTATGSRSDSESEEEDLPVGEEVCKRGYLRKQKHGHRRYFVLKLETADA
PARLEYYENARKFRHSVRAAAAAAAAAASGAAIPPLIPPRRVITLYQCFSVSQRADARYRHLIALFTQDEYFAMVAENESEQESWYLLLSRLILESKRRRCGTLG
AQPDGEPAALAAAAAAEPPFYKDVWQVIVKPRGLGHRKELSGVFRLCLTDEEVVFVRLNTEVASVVVQLLSIRRCGHSEQYFFLEVGRSTVIGPGELWMQVDDCV
VAQNMHELFLEKMRALCADEYRARCRSYSISIGAHLLTLLSARRHLGLVPLEPGGWLRRSRFEQFCHLRAIGDGEDEMLFTRRFVTPSEPVAHSRRGRLHLPRGR
RSRRAVSVPASFFRRLAPSPARPRHPAEAPNNGARLSSEVSGSGSGNFGEEGNPQGKEDQEGSGGDYMPMNNWGSGNGRGSGGGQGSNGQGSSSHSSGGNQCSGE
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top