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