AutismKB 2.0

Evidence Details for LIG1


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Basic Information Top
Gene Symbol:LIG1 ( MGC117397,MGC130025 )
Gene Full Name: ligase I, DNA, ATP-dependent
Band: 19q13.33
Quick LinksEntrez ID:3978; OMIM: 126391; Uniprot ID:DNLI1_HUMAN; ENSEMBL ID: ENSG00000105486; HGNC ID: 6598
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LIG1|3978|nucleotide
ATGCAGCGAAGTATCATGTCATTTTTCCACCCCAAGAAAGAGGGTAAAGCAAAGAAGCCTGAGAAGGAGGCATCCAATAGCAGCAGAGAGACGGAGCCCCCTCCA
AAGGCGGCACTGAAGGAGTGGAATGGAGTGGTGTCCGAGAGTGACTCTCCGGTGAAGAGGCCAGGGAGGAAGGCGGCCCGGGTCCTGGGCAGCGAAGGGGAAGAG
GAGGATGAAGCCCTTAGCCCTGCTAAAGGCCAGAAGCCTGCCCTGGACTGCTCACAGGTCTCCCCGCCCCGTCCTGCCACATCTCCTGAGAACAATGCTTCCCTC
TCTGACACCTCTCCCATGGACAGTTCCCCATCAGGGATTCCGAAGCGTCGCACAGCTCGGAAGCAGCTCCCGAAACGGACCATTCAGGAAGTCCTGGAAGAGCAG
AGTGAGGACGAGGACAGAGAAGCCAAGAGGAAGAAGGAGGAGGAAGAAGAGGAGACCCCGAAAGAAAGCCTCACAGAGGCTGAAGTGGCAACAGAGAAGGAAGGA
GAAGACGGGGACCAGCCCACCACGCCTCCCAAGCCCCTAAAGACCTCCAAAGCAGAGACCCCGACGGAAAGCGTTTCAGAGCCTGAGGTGGCCACGAAGCAGGAA
CTGCAGGAGGAGGAAGAGCAGACCAAGCCTCCCCGCAGAGCTCCCAAGACGCTCAGCAGCTTCTTCACCCCCCGGAAGCCAGCAGTCAAAAAAGAAGTGAAGGAA
GAGGAGCCAGGGGCTCCAGGAAAGGAGGGAGCTGCTGAGGGACCCCTGGATCCATCTGGTTACAATCCTGCCAAGAACAACTATCATCCCGTGGAAGATGCCTGC
TGGAAACCGGGCCAGAAGGTTCCTTACCTGGCTGTGGCCCGGACGTTTGAGAAGATCGAGGAGGTGTCTGCTCGGCTCCGGATGGTGGAGACGCTGAGCAACTTG
CTGCGCTCCGTGGTGGCCCTGTCGCCTCCAGACCTCCTCCCTGTCCTCTACCTCAGCCTCAACCACCTTGGGCCACCCCAGCAGGGCCTGGAGCTTGGCGTGGGT
GATGGTGTCCTTCTCAAGGCAGTGGCCCAGGCCACAGGTCGGCAGCTGGAGTCCGTCCGGGCTGAGGCAGCCGAGAAAGGCGACGTGGGGCTGGTGGCCGAGAAC
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>LIG1|3978|protein
MQRSIMSFFHPKKEGKAKKPEKEASNSSRETEPPPKAALKEWNGVVSESDSPVKRPGRKAARVLGSEGEEEDEALSPAKGQKPALDCSQVSPPRPATSPENNASL
SDTSPMDSSPSGIPKRRTARKQLPKRTIQEVLEEQSEDEDREAKRKKEEEEEETPKESLTEAEVATEKEGEDGDQPTTPPKPLKTSKAETPTESVSEPEVATKQE
LQEEEEQTKPPRRAPKTLSSFFTPRKPAVKKEVKEEEPGAPGKEGAAEGPLDPSGYNPAKNNYHPVEDACWKPGQKVPYLAVARTFEKIEEVSARLRMVETLSNL
LRSVVALSPPDLLPVLYLSLNHLGPPQQGLELGVGDGVLLKAVAQATGRQLESVRAEAAEKGDVGLVAENSRSTQRLMLPPPPLTASGVFSKFRDIARLTGSAST
AKKIDIIKGLFVACRHSEARFIARSLSGRLRLGLAEQSVLAALSQAVSLTPPGQEFPPAMVDAGKGKTAEARKTWLEEQGMILKQTFCEVPDLDRIIPVLLEHGL
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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 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top