AutismKB 2.0

Evidence Details for LIN54


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Basic Information Top
Gene Symbol:LIN54 ( CXCDC1,DKFZp686L1814,JC8.6,MGC129905,MIP120 )
Gene Full Name: lin-54 homolog (C. elegans)
Band: 4q21.22
Quick LinksEntrez ID:132660; OMIM: 613367; Uniprot ID:LIN54_HUMAN; ENSEMBL ID: ENSG00000189308; HGNC ID: 25397
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LIN54|132660|nucleotide
ATGGAGGTGGTGCCAGCTGAGATTGCTAAGAAGCCTCGAACGCCAACCTCTGGTCCAGTAATCACGAAGCTGATCTTTGCAAAACCAATTAATAGTAAAGCAGTT
ACAGGACAGACAACTCAAGTTTCACCACCAGTCATTGCAGGTAGGGTTCTTTCACAGTCTACTCCCGGAACTCCATCAAAGACCATAACAATATCTGAAAGTGGT
GTTATTGGATCAACTTTAAATTCTACAACACAGACACCAAATAAAATAGCCATCTCACCTTTGAAATCGCCAAATAAGGCAGTGAAATCAACTGTGCAGACCATC
ACTGTTGGAGGAGTGAGCACATCACAGTTTAAGACAATTATTCCTCTGGCAACTGCTCCCAATGTCCAGCAGATTCAAGTGCCTGGAAGCAAGTTTCATTATGTC
CGACTTGTTACTGCCACATCAGCCAGTAGCTCAACCCAGCCAGTTAGTCAGAATCCCAGTACAAACACTCAGCCTCTTCAGCAAGCAAAGCCAGTGGTTGTTAAT
ACAACCCCAGTGCGGATGTCAGTTCCAATTGTCTCAGCTCAGGCTGTCAAACAAGTTGTTCCAAAACCAATCAATCCAACTTCACAAATAGTAACTACTAGCCAG
CCACAGCAACGGCTTATCATGCCTGCCACACCACTGCCACAGATCCAGCCCAACCTCACTAACCTGCCACCAGGCACTGTCCTGGCACCAGCTCCGGGAACAGGG
AATGTGGGTTATGCAGTGCTTCCAGCTCAGTATGTTACTCAGCTACAGCAGTCTTCATATGTATCAATAGCAAGCAACTCTACCTTTACTGGAACATCTGGTATC
CAGACCCAGGCACGGCTTCCATTCAATGGCATAATCCCATCAGAGTCGGCCAGTCGGCCCCGAAAGCCCTGTAATTGTACAAAATCACTGTGTTTGAAATTGTAT
TGTGATTGCTTTGCAAATGGTGAATTTTGCAACAACTGCAATTGTACTAATTGTTACAACAATTTGGAACATGAAAATGAAAGGCAAAAAGCAATAAAGGCATGC
CTTGACAGAAATCCAGAAGCCTTTAAGCCTAAGATAGGGAAAGGAAAGGAGGGAGAATCTGATCGACGTCATAGCAAAGGGTGTAATTGCAAACGATCAGGATGT
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>LIN54|132660|protein
MEVVPAEIAKKPRTPTSGPVITKLIFAKPINSKAVTGQTTQVSPPVIAGRVLSQSTPGTPSKTITISESGVIGSTLNSTTQTPNKIAISPLKSPNKAVKSTVQTI
TVGGVSTSQFKTIIPLATAPNVQQIQVPGSKFHYVRLVTATSASSSTQPVSQNPSTNTQPLQQAKPVVVNTTPVRMSVPIVSAQAVKQVVPKPINPTSQIVTTSQ
PQQRLIMPATPLPQIQPNLTNLPPGTVLAPAPGTGNVGYAVLPAQYVTQLQQSSYVSIASNSTFTGTSGIQTQARLPFNGIIPSESASRPRKPCNCTKSLCLKLY
CDCFANGEFCNNCNCTNCYNNLEHENERQKAIKACLDRNPEAFKPKIGKGKEGESDRRHSKGCNCKRSGCLKNYCECYEAKIMCSSICKCIGCKNFEESPERKTL
MHLADAAEVRVQQQTAAKTKLSSQISDLLTRPTPALNSGGGKLPFTFVTKEVAEATCNCLLAQAEQADKKGKSKAAAERMILEEFGRCLMSVINSAGKAKSDPCA
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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 (2) 0 (0) 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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top