AutismKB 2.0

Evidence Details for IGF2R


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Basic Information Top
Gene Symbol:IGF2R ( CD222,CIMPR,M6P-R,MPR1,MPRI )
Gene Full Name: insulin-like growth factor 2 receptor
Band: 6q25.3
Quick LinksEntrez ID:3482; OMIM: 147280; Uniprot ID:MPRI_HUMAN; ENSEMBL ID: ENSG00000197081; HGNC ID: 5467
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IGF2R|3482|nucleotide
ATGGGGGCCGCCGCCGGCCGGAGCCCCCACCTGGGGCCCGCGCCCGCCCGCCGCCCGCAGCGCTCTCTGCTCCTGCTGCAGCTGCTGCTGCTCGTCGCTGCCCCG
GGGTCCACGCAGGCCCAGGCCGCCCCGTTCCCCGAGCTGTGCAGTTATACATGGGAAGCTGTTGATACCAAAAATAATGTACTTTATAAAATCAACATCTGTGGA
AGTGTGGATATTGTCCAGTGCGGGCCATCAAGTGCTGTTTGTATGCACGACTTGAAGACACGCACTTATCATTCAGTGGGTGACTCTGTTTTGAGAAGTGCAACC
AGATCTCTCCTGGAATTCAACACAACAGTGAGCTGTGACCAGCAAGGCACAAATCACAGAGTCCAGAGCAGCATTGCCTTCCTGTGTGGGAAAACCCTGGGAACT
CCTGAATTTGTAACTGCAACAGAATGTGTGCACTACTTTGAGTGGAGGACCACTGCAGCCTGCAAGAAAGACATATTTAAAGCAAATAAGGAGGTGCCATGCTAT
GTGTTTGATGAAGAGTTGAGGAAGCATGATCTCAATCCTCTGATCAAGCTTAGTGGTGCCTACTTGGTGGATGACTCCGATCCGGACACTTCTCTATTCATCAAT
GTTTGTAGAGACATAGACACACTACGAGACCCAGGTTCACAGCTGCGGGCCTGTCCCCCCGGCACTGCCGCCTGCCTGGTAAGAGGACACCAGGCGTTTGATGTT
GGCCAGCCCCGGGACGGACTGAAGCTGGTGCGCAAGGACAGGCTTGTCCTGAGTTACGTGAGGGAAGAGGCAGGAAAGCTAGACTTTTGTGATGGTCACAGCCCT
GCGGTGACTATTACATTTGTTTGCCCGTCGGAGCGGAGAGAGGGCACCATTCCCAAACTCACAGCTAAATCCAACTGCCGCTATGAAATTGAGTGGATTACTGAG
TATGCCTGCCACAGAGATTACCTGGAAAGTAAAACTTGTTCTCTGAGCGGCGAGCAGCAGGATGTCTCCATAGACCTCACACCACTTGCCCAGAGCGGAGGTTCA
TCCTATATTTCAGATGGAAAAGAATATTTGTTTTATTTGAATGTCTGTGGAGAAACTGAAATACAGTTCTGTAATAAAAAACAAGCTGCAGTTTGCCAAGTGAAA
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>IGF2R|3482|protein
MGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKNNVLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSAT
RSLLEFNTTVSCDQQGTNHRVQSSIAFLCGKTLGTPEFVTATECVHYFEWRTTAACKKDIFKANKEVPCYVFDEELRKHDLNPLIKLSGAYLVDDSDPDTSLFIN
VCRDIDTLRDPGSQLRACPPGTAACLVRGHQAFDVGQPRDGLKLVRKDRLVLSYVREEAGKLDFCDGHSPAVTITFVCPSERREGTIPKLTAKSNCRYEIEWITE
YACHRDYLESKTCSLSGEQQDVSIDLTPLAQSGGSSYISDGKEYLFYLNVCGETEIQFCNKKQAAVCQVKKSDTSQVKAAGRYHNQTLRYSDGDLTLIYFGGDEC
SSGFQRMSVINFECNKTAGNDGKGTPVFTGEVDCTYFFTWDTEYACVKEKEDLLCGATDGKKRYDLSALVRHAEPEQNWEAVDGSQTETEKKHFFINICHRVLQE
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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) 0 (0) 0 (0) 0 (0) 0 (3) 0 (1) 0 (0) 0 (0) 0 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top