AutismKB 2.0

Evidence Details for MICAL3


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Basic Information Top
Gene Symbol:MICAL3 ( KIAA0819,MGC189703 )
Gene Full Name: microtubule associated monoxygenase, calponin and LIM domain containing 3
Band: 22q11.21
Quick LinksEntrez ID:57553; OMIM: 608882; Uniprot ID:MICA3_HUMAN; ENSEMBL ID: ENSG00000093100,ENSG00000243156; HGNC ID: 24694
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MICAL3|57553|nucleotide
ATGGAGGAGAGGAAGCATGAGACCATGAACCCAGCTCATGTCCTCTTTGACCGGTTTGTCCAGGCCACCACCTGCAAGGGAACCCTCAAGGCTTTCCAGGAGCTC
TGTGACCACCTGGAACTAAAGCCAAAGGACTACCGCTCCTTCTATCACAAGCTCAAGTCCAAGCTTAACTACTGGAAAGCCAAAGCCCTCTGGGCAAAATTGGAC
AAACGGGGCAGTCACAAAGACTACAAAAAGGGAAAAGCGTGCACTAACACCAAGTGTCTCATCATTGGGGCTGGCCCCTGTGGTCTCCGTACAGCCATCGACTTA
TCCTTACTGGGGGCCAAGGTGGTTGTTATTGAGAAACGAGATGCCTTCTCCCGCAACAACGTCTTGCATCTCTGGCCATTCACCATACATGATCTACGAGGTCTG
GGTGCCAAGAAGTTCTATGGCAAGTTCTGTGCTGGAGCCATCGACCATATCAGTATCCGTCAGCTCCAACTAATACTTTTGAAAGTAGCCTTGATCCTAGGCATT
GAAATCCACGTCAATGTGGAATTCCAAGGACTTATACAGCCTCCTGAGGACCAAGAGAATGAACGGATAGGCTGGCGGGCACTGGTGCACCCCAAGACTCATCCT
GTGTCAGAGTATGAATTTGAAGTGATCATCGGTGGGGATGGTCGGAGGAACACCTTGGAAGGGTTTCGTCGGAAAGAATTCCGTGGCAAACTGGCCATCGCCATC
ACGGCAAATTTTATCAACCGAAATACAACAGCAGAAGCTAAAGTGGAAGAGATCAGTGGTGTGGCTTTTATATTCAACCAAAAATTTTTCCAGGAACTGAGGGAA
GCCACAGGTATTGACTTGGAGAACATCGTTTACTACAAAGATGACACACACTATTTCGTTATGACAGCCAAAAAGCAGAGTTTGCTGGACAAAGGAGTGATACTA
CATGACTACGCCGACACAGAGCTCCTGCTTTCCCGAGAAAACGTGGACCAGGAGGCTCTGCTCAGCTATGCCAGGGAGGCGGCAGACTTCTCTACCCAGCAGCAG
CTGCCGTCTCTGGATTTTGCCATCAATCACTATGGGCAGCCCGATGTGGCCATGTTTGACTTCACTTGTATGTATGCCTCCGAGAACGCCGCCTTGGTGCGGGAG
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>MICAL3|57553|protein
MEERKHETMNPAHVLFDRFVQATTCKGTLKAFQELCDHLELKPKDYRSFYHKLKSKLNYWKAKALWAKLDKRGSHKDYKKGKACTNTKCLIIGAGPCGLRTAIDL
SLLGAKVVVIEKRDAFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGAIDHISIRQLQLILLKVALILGIEIHVNVEFQGLIQPPEDQENERIGWRALVHPKTHP
VSEYEFEVIIGGDGRRNTLEGFRRKEFRGKLAIAITANFINRNTTAEAKVEEISGVAFIFNQKFFQELREATGIDLENIVYYKDDTHYFVMTAKKQSLLDKGVIL
HDYADTELLLSRENVDQEALLSYAREAADFSTQQQLPSLDFAINHYGQPDVAMFDFTCMYASENAALVREQNGHQLLVALVGDSLLEPFWPMGTGIARGFLAAMD
SAWMVRSWSLGTSPLEVLAERESIYRLLPQTTPENVSKNFSQYSIDPVTRYPNINVNFLRPSQVRHLYDTGETKDIHLEMESLVNSRTTPKLTRNESVARSSKLL
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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 (3) 1 (1) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 24 (6)
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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Ramelli, 2008 - FISHASD - - - - 1 - 1
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bailey, 1998 - microsatellite-based genomic screenPDD 99 - 99 - - - -
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
Jiang YH, 2013 - 32 39 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome seque
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (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