AutismKB 2.0

Evidence Details for INSRR


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Basic Information Top
Gene Symbol:INSRR ( IRR )
Gene Full Name: insulin receptor-related receptor
Band: 1q23.1
Quick LinksEntrez ID:3645; OMIM: 147671; Uniprot ID:INSRR_HUMAN; ENSEMBL ID: ENSG00000027644; HGNC ID: 6093
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>INSRR|3645|nucleotide
ATGGCAGTGCCTAGTCTGTGGCCCTGGGGAGCATGCCTGCCTGTGATCTTCCTCTCCTTGGGATTTGGCCTGGATACAGTAGAGGTGTGCCCCAGCCTGGATATT
CGCTCAGAGGTGGCAGAGCTTCGTCAGCTGGAGAACTGCAGCGTGGTGGAGGGCCACCTGCAGATCCTGCTCATGTTCACAGCCACCGGGGAGGACTTCCGCGGC
CTCAGCTTCCCTCGCCTCACCCAGGTCACCGACTACCTGCTGCTCTTCCGTGTCTACGGACTGGAGAGCCTGCGCGACCTCTTCCCCAACCTAGCAGTCATCCGC
GGGACGCGCCTCTTCCTGGGCTATGCACTGGTCATCTTTGAGATGCCACATCTGCGTGACGTGGCACTGCCTGCACTTGGGGCCGTGCTGCGTGGGGCTGTGCGT
GTGGAGAAGAACCAGGAGCTCTGCCACCTCTCCACCATTGACTGGGGACTGCTGCAGCCAGCACCTGGCGCCAACCACATCGTGGGCAACAAGCTGGGCGAGGAG
TGTGCTGACGTGTGCCCTGGTGTGCTGGGTGCTGCTGGTGAGCCCTGTGCCAAGACCACCTTCAGCGGGCACACTGACTACAGATGCTGGACCTCCAGCCACTGC
CAGAGAGTGTGCCCCTGCCCCCATGGGATGGCTTGCACAGCGAGGGGCGAGTGCTGCCACACCGAATGCCTGGGGGGCTGCAGCCAGCCAGAAGACCCTCGTGCC
TGTGTAGCTTGCCGCCACCTCTACTTCCAGGGTGCCTGCCTGTGGGCCTGCCCGCCAGGCACCTACCAGTATGAGTCCTGGCGCTGTGTCACAGCTGAGCGCTGT
GCCAGCCTGCACTCTGTGCCCGGCCGTGCCTCCACCTTCGGCATACACCAGGGCAGTTGCCTGGCCCAGTGCCCTTCTGGCTTCACCCGTAATAGCAGCAGCATA
TTCTGCCACAAGTGCGAGGGGCTGTGCCCTAAAGAGTGCAAGGTAGGCACCAAGACCATCGACTCCATCCAGGCGGCACAGGATCTTGTGGGCTGCACGCATGTG
GAGGGAAGCCTCATCCTCAACCTTCGCCAGGGCTACAACCTGGAGCCACAGCTGCAGCACAGCCTGGGGCTGGTAGAAACCATTACTGGCTTCCTCAAAATCAAG
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>INSRR|3645|protein
MAVPSLWPWGACLPVIFLSLGFGLDTVEVCPSLDIRSEVAELRQLENCSVVEGHLQILLMFTATGEDFRGLSFPRLTQVTDYLLLFRVYGLESLRDLFPNLAVIR
GTRLFLGYALVIFEMPHLRDVALPALGAVLRGAVRVEKNQELCHLSTIDWGLLQPAPGANHIVGNKLGEECADVCPGVLGAAGEPCAKTTFSGHTDYRCWTSSHC
QRVCPCPHGMACTARGECCHTECLGGCSQPEDPRACVACRHLYFQGACLWACPPGTYQYESWRCVTAERCASLHSVPGRASTFGIHQGSCLAQCPSGFTRNSSSI
FCHKCEGLCPKECKVGTKTIDSIQAAQDLVGCTHVEGSLILNLRQGYNLEPQLQHSLGLVETITGFLKIKHSFALVSLGFFKNLKLIRGDAMVDGNYTLYVLDNQ
NLQQLGSWVAAGLTIPVGKIYFAFNPRLCLEHIYRLEEVTGTRGRQNKAEINPRTNGDRAACQTRTLRFVSNVTEADRILLRWERYEPLEARDLLSFIVYYKESP
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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 (0) 0 (0) 0 (0) 0 (2)
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