AutismKB 2.0

Evidence Details for LIMCH1


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Basic Information Top
Gene Symbol:LIMCH1 ( DKFZp434I0312,DKFZp686A01247,DKFZp686B2470,DKFZp686G18243,DKFZp686G2094,DKFZp781C1754,DKFZp781I1455,LIMCH1A,LMO7B,MGC72127 )
Gene Full Name: LIM and calponin homology domains 1
Band: 4p13
Quick LinksEntrez ID:22998; OMIM: NA; Uniprot ID:LIMC1_HUMAN; ENSEMBL ID: ENSG00000064042; HGNC ID: 29191
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LIMCH1|22998|nucleotide
ATGGCTTGTCCCGCTCTCGGTCTGGAAGCTCTTCAGCCCCTGCAGCCCGAGCCGCCCCCCGAGCCCGCCTTCTCCGAGGCGCAGAAGTGGATTGAGCAAGTAACT
GGCAGAAGTTTTGGTGATAAAGATTTTCGGACAGGTTTAGAAAATGGAATCCTCCTCTGCGAGTTGCTGAATGCTATAAAGCCAGGACTTGTTAAAAAGATCAAT
AGATTGCCTACCCCCATTGCAGGACTGGACAATATTATCTTATTCTTGAGAGGTTGTAAAGAGCTCGGCCTTAAAGAATCTCAACTTTTTGACCCGAGTGACCTC
CAGGATACATCCAACAGAGTAACAGTCAAGAGCCTTGATTATAGTAGGAAGCTGAAAAATGTATTAGTTACCATTTACTGGCTGGGAAAAGCAGCAAACAGCTGC
ACATCCTACAGCGGAACGACACTAAACCTGAAGGAGTTTGAAGGATTGTTGGCTCAGATGCGAAAGGACACTGATGACATTGAAAGTCCTAAACGCAGTATCCGA
GACAGTGGCTACATCGACTGCTGGGATTCCGAGCGCAGCGACTCCCTCTCTCCTCCTCGCCACGGCAGAGATGATTCCTTCGACAGCCTGGATTCCTTTGGCTCT
CGCTCTCGGCAGACGCCTTCACCAGATGTAGTCCTCAGGGGAAGCAGCGATGGGAGAGGAAGCGACTCTGAATCCGACTTGCCTCATCGGAAGCTGCCAGATGTG
AAGAAGGATGACATGTCTGCACGGCGGACTTCCCATGGTGAGCCGAAATCAGCAGTGCCTTTTAACCAGTACCTCCCGAACAAAAGCAATCAGACGGCCTACGTC
CCCGCGCCTCTGAGAAAGAAGAAAGCAGAGAGAGAGGAATACCGCAAGAGCTGGAGTACCGCCACCTCCCCGCTGGGTGGGGAGAGGCCCTTCAGATACGGTCCG
AGAACTCCTGTGTCTGATGACGCAGAGAGCACCAGCATGTTTGACATGCGGTGTGAGGAGGAGGCCGCGGTGCAGCCGCACAGCAGGGCCCGCCAGGAGCAGCTG
CAGCTGATAAATAACCAGCTGAGGGAAGAGGACGACAAATGGCAAGATGACCTGGCTCGTTGGAAGAGTCGTAGAAGAAGTGTTTCTCAGGACTTAATCAAGAAA
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>LIMCH1|22998|protein
MACPALGLEALQPLQPEPPPEPAFSEAQKWIEQVTGRSFGDKDFRTGLENGILLCELLNAIKPGLVKKINRLPTPIAGLDNIILFLRGCKELGLKESQLFDPSDL
QDTSNRVTVKSLDYSRKLKNVLVTIYWLGKAANSCTSYSGTTLNLKEFEGLLAQMRKDTDDIESPKRSIRDSGYIDCWDSERSDSLSPPRHGRDDSFDSLDSFGS
RSRQTPSPDVVLRGSSDGRGSDSESDLPHRKLPDVKKDDMSARRTSHGEPKSAVPFNQYLPNKSNQTAYVPAPLRKKKAEREEYRKSWSTATSPLGGERPFRYGP
RTPVSDDAESTSMFDMRCEEEAAVQPHSRARQEQLQLINNQLREEDDKWQDDLARWKSRRRSVSQDLIKKEEERKKMEKLLAGEDGTSERRKSIKTYREIVQEKE
RRERELHEAYKNARSQEEAEGILQQYIERFTISEAVLERLEMPKILERSHSTEPNLSSFLNDPNPMKYLRQQSLPPPKFTATVETTIARASVLDTSMSAGSGSPS
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Sabaratnam, 2000 - FISHautism - - - - 1 - 1
Linkage Studies Top