AutismKB 2.0

Evidence Details for KIRREL


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Basic Information Top
Gene Symbol:KIRREL ( FLJ10845,MGC129542,MGC129543,NEPH1 )
Gene Full Name: kin of IRRE like (Drosophila)
Band: 1q21-q25
Quick LinksEntrez ID:55243; OMIM: 607428; Uniprot ID:KIRR1_HUMAN; ENSEMBL ID: ENSG00000183853; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIRREL|55243|nucleotide
ATGCTGAGCCTCCTCGTCTGGATCCTCACTCTCTCCGATACTTTCTCCCAAGGGACCCAGACCCGCTTCAGCCAGGAGCCAGCTGACCAGACGGTGGTGGCTGGA
CAGCGGGCCGTGCTCCCCTGTGTGCTGCTCAACTACTCTGGAATTGTGCAATGGACCAAGGACGGGCTGGCCCTGGGCATGGGCCAGGGCCTCAAAGCCTGGCCA
CGGTACCGGGTTGTGGGCTCCGCAGACGCTGGGCAGTACAACCTGGAGATCACAGATGCTGAGCTCTCTGACGACGCCTCTTACGAGTGCCAGGCCACGGAGGCC
GCCCTGCGCTCTCGGCGGGCCAAACTCACCGTGCTCATCCCCCCAGAGGACACCAGGATTGACGGAGGCCCTGTGATTCTACTGCAGGCAGGCACCCCCCACAAC
CTCACATGCCGGGCCTTCAATGCGAAGCCTGCTGCCACCATCATCTGGTTCCGGGACGGGACGCAGCAGGAGGGCGCTGTGGCCAGCACGGAATTGCTGAAGGAT
GGGAAGAGGGAGACCACCGTGAGCCAACTGCTTATTAACCCCACGGACCTGGACATAGGGCGTGTCTTCACTTGCCGAAGCATGAACGAAGCCATCCCTAGTGGC
AAGGAGACTTCCATCGAGCTGGATGTGCACCACCCTCCTACAGTGACCCTGTCCATTGAGCCACAGACGGTGCAGGAGGGTGAGCGTGTTGTCTTTACCTGCCAG
GCCACAGCCAACCCCGAGATCTTGGGCTACAGGTGGGCCAAAGGGGGTTTCTTGATTGAAGACGCCCACGAGAGTCGCTATGAGACAAATGTGGATTATTCCTTT
TTCACGGAGCCTGTGTCTTGTGAGGTTCACAACAAAGTGGGAAGCACCAATGTCAGCACTTTAGTAAATGTCCACTTTGCTCCCCGGATTGTAGTTGACCCCAAA
CCCACAACCACAGACATTGGCTCTGATGTGACCCTTACCTGTGTCTGGGTTGGGAATCCCCCCCTCACTCTCACCTGGACCAAAAAGGACTCAAATATGGTCCTG
AGTAACAGCAACCAGCTGCTGCTGAAGTCGGTGACTCAGGCAGACGCTGGCACCTACACCTGCCGGGCCATCGTGCCTCGAATCGGAGTGGCTGAGCGGGAGGTG
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>KIRREL|55243|protein
MLSLLVWILTLSDTFSQGTQTRFSQEPADQTVVAGQRAVLPCVLLNYSGIVQWTKDGLALGMGQGLKAWPRYRVVGSADAGQYNLEITDAELSDDASYECQATEA
ALRSRRAKLTVLIPPEDTRIDGGPVILLQAGTPHNLTCRAFNAKPAATIIWFRDGTQQEGAVASTELLKDGKRETTVSQLLINPTDLDIGRVFTCRSMNEAIPSG
KETSIELDVHHPPTVTLSIEPQTVQEGERVVFTCQATANPEILGYRWAKGGFLIEDAHESRYETNVDYSFFTEPVSCEVHNKVGSTNVSTLVNVHFAPRIVVDPK
PTTTDIGSDVTLTCVWVGNPPLTLTWTKKDSNMVLSNSNQLLLKSVTQADAGTYTCRAIVPRIGVAEREVPLYVNGPPIISSEAVQYAVRGDGGKVECFIGSTPP
PDRIAWAWKENFLEVGTLERYTVERTNSGSGVLSTLTINNVMEADFQTHYNCTAWNSFGPGTAIIQLEEREVLPVGIIAGATIGASILLIFFFIALVFFLYRRRK
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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