AutismKB 2.0

Evidence Details for MICALCL


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Basic Information Top
Gene Symbol:MICALCL ( Ebitein1,FLJ14966 )
Gene Full Name: MICAL C-terminal like
Band: 11p15.3
Quick LinksEntrez ID:84953; OMIM: 612355; Uniprot ID:MICLK_HUMAN; ENSEMBL ID: ENSG00000133808; HGNC ID: 25933
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MICALCL|84953|nucleotide
ATGTCACCTCCTAAGGACCCTTCTCCTTCTCTTCCTCTTCCTTCATCGTCTTCCCATTCATCTTCCCCACCATCTTCTTCTTCAACCAGTGTTTCTGGGAATGCT
CCAGATGGTTCCTCCCCGCCTCAGATGACAGCTTCTGAGCCCCTCTCGCAAGTCTCGAGAGGTCATCCAAGTCCTCCCACCCCAAACTTTCGGAGGCGAGCCGTA
GCCCAAGGAGCACCCAGGGAAATTCCCCTGTATCTGCCTCATCACCCAAAGCCAGAGTGGGCAGAGTACTGCCTGGTGAGCCCTGGTGAAGATGGCCTCTCAGAC
CCTGCAGAGATGACTTCTGATGAGTGCCAGCCAGCAGAGGCCCCTCTTGGGGACATCGGAAGCAACCACAGAGACCCACACCCCATCTGGGGGAAGGACAGGAGC
TGGACAGGGCAAGAGCTATCTCCCTTGGCTGGAGAAGACCGGGAAAAAGGGAGTACTGGAGCCAGGAAGGAAGAAGAGGGAGGGCCAGTGCTGGTAAAGGAGAAG
TTGGGCCTGAAGAAGTTAGTCCTCACTCAGGAGCAGAAGACCATGTTGTTGGATTGGAATGACTCCATCCCTGAGAGTGTGCACCTCAAAGCTGGGGAGCGAATT
TCCCAGAAAAGTGCTGAGAATGGTAGAGGAGGCCGTGTGCTAAAACCAGTCCGCCCCCTGCTGCTCCCTAGGGCAGCAGGAGAGCCCCTGCCAACCCAGAGAGGG
GCCCAGGAGAAGATGGGGACCCCTGCGGAACAAGCTCAAGGGGAGCGAAACGTGCCTCCACCCAAGTCCCCACTGCGGCTCATAGCCAATGCCATCCGAAGGTCT
CTAGAGCCCCTCCTTTCCAACTCTGAAGGCGGGAAGAAGGCCTGGGCCAAGCAAGAATCCAAAACTTTGCCCGCACAGGCCTGCACTCGCTCATTCAGCCTTCGG
AAAACCAATTCCAATAAAGACGGGGACCAGCATTCCCCTGGGAGAAACCAGTCCTCAGCCTTTAGCCCTCCTGACCCTGCCCTCCGCACCCACAGTTTGCCCAAT
CGGCCATCCAAGGTCTTTCCTGCACTTAGGTCCCCACCCTGCAGCAAGATTGAAGATGTCCCCACACTCCTCGAGAAAGTGAGTTTGCAAGAGAACTTCCCAGAT
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>MICALCL|84953|protein
MSPPKDPSPSLPLPSSSSHSSSPPSSSSTSVSGNAPDGSSPPQMTASEPLSQVSRGHPSPPTPNFRRRAVAQGAPREIPLYLPHHPKPEWAEYCLVSPGEDGLSD
PAEMTSDECQPAEAPLGDIGSNHRDPHPIWGKDRSWTGQELSPLAGEDREKGSTGARKEEEGGPVLVKEKLGLKKLVLTQEQKTMLLDWNDSIPESVHLKAGERI
SQKSAENGRGGRVLKPVRPLLLPRAAGEPLPTQRGAQEKMGTPAEQAQGERNVPPPKSPLRLIANAIRRSLEPLLSNSEGGKKAWAKQESKTLPAQACTRSFSLR
KTNSNKDGDQHSPGRNQSSAFSPPDPALRTHSLPNRPSKVFPALRSPPCSKIEDVPTLLEKVSLQENFPDASKPPKKRISLFSSLRLKDKSFESFLQESRQRKDI
RDLFGSPKRKVLPEDSAQALEKLLQPFKSTSLRQAAPPPPPPPPPPPPPPTAGGADSKNFPLRAQVTEASSSASSTSSSSADEEFDPQLSLQLKEKKTLRRRKKL
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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) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018