AutismKB 2.0

Evidence Details for LNX1


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Basic Information Top
Gene Symbol:LNX1 ( LNX,MPDZ,PDZRN2 )
Gene Full Name: ligand of numb-protein X 1
Band: 4q12
Quick LinksEntrez ID:84708; OMIM: 609732; Uniprot ID:LNX1_HUMAN; ENSEMBL ID: ENSG00000072201; HGNC ID: 6657
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LNX1|84708|nucleotide
ATGAACCAGCCAGAGTCTGCCAACGATCCTGAACCCCTGTGTGCAGTGTGTGGCCAAGCCCACTCCTTGGAGGAAAACCACTTCTACAGCTATCCAGAGGAAGTG
GATGATGACCTCATCTGCCACATCTGCCTGCAGGCTTTGCTGGACCCCCTGGACACTCCGTGTGGACACACCTACTGCACCCTCTGCCTCACCAACTTCCTGGTG
GAGAAGGACTTCTGTCCCATGGACCGCAAGCCTCTGGTTCTGCAGCACTGCAAGAAGTCCAGCATCCTGGTCAACAAACTCCTCAACAAGCTACTGGTGACCTGC
CCATTCAGGGAGCACTGCACCCAGGTGTTGCAGCGCTGTGACCTCGAGCATCACTTTCAAACCAGCTGTAAAGGTGCCTCCCACTACGGCCTGACCAAAGATAGG
AAGAGGCGCTCACAAGATGGCTGTCCAGACGGCTGTGCGAGCCTCACAGCCACGGCTCCCTCCCCAGAGGTTTCTGCAGCTGCCACCATCTCCTTAATGACAGAC
GAGCCTGGCCTAGACAACCCTGCCTACGTGTCCTCGGCAGAGGACGGGCAGCCAGCAATCAGCCCAGTGGACTCTGGCCGGAGCAACCGAACTAGGGCACGGCCC
TTTGAGAGATCCACTATTAGAAGCAGATCATTTAAAAAAATAAATCGAGCTTTGAGTGTTCTTCGAAGGACAAAGAGCGGGAGTGCAGTTGCCAACCATGCCGAC
CAGGGCAGGGAAAATTCTGAAAACACCACTGCCCCTGAAGTCTTTCCAAGGTTGTACCACCTGATTCCAGATGGTGAAATTACCAGCATCAAGATCAATCGAGTA
GATCCCAGTGAAAGCCTCTCTATTAGGCTGGTGGGAGGTAGCGAAACCCCACTGGTCCATATCATTATCCAACACATTTATCGTGATGGGGTGATCGCCAGAGAC
GGCCGGCTACTGCCAGGAGACATCATTCTAAAGGTCAACGGGATGGACATCAGCAATGTCCCTCACAACTACGCTGTGCGTCTCCTGCGGCAGCCCTGCCAGGTG
CTGTGGCTGACTGTGATGCGTGAACAGAAGTTCCGCAGCAGGAACAATGGACAGGCCCCGGATGCCTACAGACCCCGAGATGACAGCTTTCATGTGATTCTCAAC
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>LNX1|84708|protein
MNQPESANDPEPLCAVCGQAHSLEENHFYSYPEEVDDDLICHICLQALLDPLDTPCGHTYCTLCLTNFLVEKDFCPMDRKPLVLQHCKKSSILVNKLLNKLLVTC
PFREHCTQVLQRCDLEHHFQTSCKGASHYGLTKDRKRRSQDGCPDGCASLTATAPSPEVSAAATISLMTDEPGLDNPAYVSSAEDGQPAISPVDSGRSNRTRARP
FERSTIRSRSFKKINRALSVLRRTKSGSAVANHADQGRENSENTTAPEVFPRLYHLIPDGEITSIKINRVDPSESLSIRLVGGSETPLVHIIIQHIYRDGVIARD
GRLLPGDIILKVNGMDISNVPHNYAVRLLRQPCQVLWLTVMREQKFRSRNNGQAPDAYRPRDDSFHVILNKSSPEEQLGIKLVRKVDEPGVFIFNVLDGGVAYRH
GQLEENDRVLAINGHDLRYGSPESAAHLIQASERRVHLVVSRQVRQRSPDIFQEAGWNSNGSWSPGPGERSNTPKPLHPTITCHEKVVNIQKDPGESLGMTVAGG
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top