AutismKB 2.0

Evidence Details for LIMA1


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Basic Information Top
Gene Symbol:LIMA1 ( EPLIN,FLJ38853,MGC131726,SREBP3 )
Gene Full Name: LIM domain and actin binding 1
Band: 12q13.12
Quick LinksEntrez ID:51474; OMIM: 608364; Uniprot ID:LIMA1_HUMAN; ENSEMBL ID: ENSG00000050405; HGNC ID: 24636
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LIMA1|51474|nucleotide
ATGGAATCATCTCCATTTAATAGACGGCAATGGACCTCACTATCATTGAGGGTAACAGCCAAAGAACTTTCTCTTGTCAACAAGAACAAGTCATCGGCTATTGTG
GAAATATTCTCCAAGTACCAGAAAGCAGCTGAAGAAACAAACATGGAGAAGAAGAGAAGTAACACCGAAAATCTCTCCCAGCACTTTAGAAAGGGGACCCTGACT
GTGTTAAAGAAGAAGTGGGAGAACCCAGGGCTGGGAGCAGAGTCTCACACAGACTCTCTACGGAACAGCAGCACTGAGATTAGGCACAGAGCAGACCATCCTCCT
GCTGAAGTGACAAGCCACGCTGCTTCTGGAGCCAAAGCTGACCAAGAAGAACAAATCCACCCCAGATCTAGACTCAGGTCACCTCCTGAAGCCCTCGTTCAGGGT
CGATATCCCCACATCAAGGACGGTGAGGATCTTAAAGACCACTCAACAGAAAGTAAAAAAATGGAAAATTGTCTAGGAGAATCCAGGCATGAAGTAGAAAAATCA
GAAATCAGTGAAAACACAGATGCTTCGGGCAAAATAGAGAAATATAATGTTCCGCTGAACAGGCTTAAGATGATGTTTGAGAAAGGTGAACCAACTCAAACTAAG
ATTCTCCGGGCCCAAAGCCGAAGTGCAAGTGGAAGGAAGATCTCTGAAAACAGCTATTCTCTAGATGACCTGGAAATAGGCCCAGGTCAGTTGTCATCTTCTACA
TTTGACTCGGAGAAAAATGAGAGTAGACGAAATCTGGAACTTCCACGCCTCTCAGAAACCTCTATAAAGGATCGAATGGCCAAGTACCAGGCAGCTGTGTCCAAA
CAAAGCAGCTCAACCAACTATACAAATGAGCTGAAAGCCAGTGGTGGCGAAATCAAAATTCATAAAATGGAGCAAAAGGAGAATGTGCCCCCAGGTCCTGAGGTC
TGCATCACCCATCAGGAAGGGGAAAAGATTTCTGCAAATGAGAATAGCCTGGCAGTCCGTTCCACCCCTGCCGAAGATGACTCCCCAGGTGACTCCCAGGTTAAG
AGTGAGGTTCAACAGCCTGTCCATCCCAAGCCACTAAGTCCAGATTCCAGAGCCTCCAGTCTTTCTGAAAGTTCTCCTCCCAAAGCAATGAAGAAGTTTCAGGCA
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>LIMA1|51474|protein
MESSPFNRRQWTSLSLRVTAKELSLVNKNKSSAIVEIFSKYQKAAEETNMEKKRSNTENLSQHFRKGTLTVLKKKWENPGLGAESHTDSLRNSSTEIRHRADHPP
AEVTSHAASGAKADQEEQIHPRSRLRSPPEALVQGRYPHIKDGEDLKDHSTESKKMENCLGESRHEVEKSEISENTDASGKIEKYNVPLNRLKMMFEKGEPTQTK
ILRAQSRSASGRKISENSYSLDDLEIGPGQLSSSTFDSEKNESRRNLELPRLSETSIKDRMAKYQAAVSKQSSSTNYTNELKASGGEIKIHKMEQKENVPPGPEV
CITHQEGEKISANENSLAVRSTPAEDDSPGDSQVKSEVQQPVHPKPLSPDSRASSLSESSPPKAMKKFQAPARETCVECQKTVYPMERLLANQQVFHISCFRCSY
CNNKLSLGTYASLHGRIYCKPHFNQLFKSKGNYDEGFGHRPHKDLWASKNENEEILERPAQLANARETPHSPGVEDAPIAKVGVLAASMEAKASSQQEKEDKPAE
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top