Evidence Details for MICAL3


Gene Symbol: | MICAL3 ( KIAA0819,MGC189703 ) |
---|---|
Gene Full Name: | microtubule associated monoxygenase, calponin and LIM domain containing 3 |
Band: | 22q11.21 |
Quick Links | Entrez ID:57553; OMIM: 608882; Uniprot ID:MICA3_HUMAN; ENSEMBL ID: ENSG00000093100,ENSG00000243156; HGNC ID: 24694 |
Relate to Another Database: | SFARIGene; denovo-db |


>MICAL3|57553|nucleotide
ATGGAGGAGAGGAAGCATGAGACCATGAACCCAGCTCATGTCCTCTTTGACCGGTTTGTCCAGGCCACCACCTGCAAGGGAACCCTCAAGGCTTTCCAGGAGCTC
TGTGACCACCTGGAACTAAAGCCAAAGGACTACCGCTCCTTCTATCACAAGCTCAAGTCCAAGCTTAACTACTGGAAAGCCAAAGCCCTCTGGGCAAAATTGGAC
AAACGGGGCAGTCACAAAGACTACAAAAAGGGAAAAGCGTGCACTAACACCAAGTGTCTCATCATTGGGGCTGGCCCCTGTGGTCTCCGTACAGCCATCGACTTA
TCCTTACTGGGGGCCAAGGTGGTTGTTATTGAGAAACGAGATGCCTTCTCCCGCAACAACGTCTTGCATCTCTGGCCATTCACCATACATGATCTACGAGGTCTG
GGTGCCAAGAAGTTCTATGGCAAGTTCTGTGCTGGAGCCATCGACCATATCAGTATCCGTCAGCTCCAACTAATACTTTTGAAAGTAGCCTTGATCCTAGGCATT
GAAATCCACGTCAATGTGGAATTCCAAGGACTTATACAGCCTCCTGAGGACCAAGAGAATGAACGGATAGGCTGGCGGGCACTGGTGCACCCCAAGACTCATCCT
GTGTCAGAGTATGAATTTGAAGTGATCATCGGTGGGGATGGTCGGAGGAACACCTTGGAAGGGTTTCGTCGGAAAGAATTCCGTGGCAAACTGGCCATCGCCATC
ACGGCAAATTTTATCAACCGAAATACAACAGCAGAAGCTAAAGTGGAAGAGATCAGTGGTGTGGCTTTTATATTCAACCAAAAATTTTTCCAGGAACTGAGGGAA
GCCACAGGTATTGACTTGGAGAACATCGTTTACTACAAAGATGACACACACTATTTCGTTATGACAGCCAAAAAGCAGAGTTTGCTGGACAAAGGAGTGATACTA
CATGACTACGCCGACACAGAGCTCCTGCTTTCCCGAGAAAACGTGGACCAGGAGGCTCTGCTCAGCTATGCCAGGGAGGCGGCAGACTTCTCTACCCAGCAGCAG
CTGCCGTCTCTGGATTTTGCCATCAATCACTATGGGCAGCCCGATGTGGCCATGTTTGACTTCACTTGTATGTATGCCTCCGAGAACGCCGCCTTGGTGCGGGAG
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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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MEERKHETMNPAHVLFDRFVQATTCKGTLKAFQELCDHLELKPKDYRSFYHKLKSKLNYWKAKALWAKLDKRGSHKDYKKGKACTNTKCLIIGAGPCGLRTAIDL
SLLGAKVVVIEKRDAFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGAIDHISIRQLQLILLKVALILGIEIHVNVEFQGLIQPPEDQENERIGWRALVHPKTHP
VSEYEFEVIIGGDGRRNTLEGFRRKEFRGKLAIAITANFINRNTTAEAKVEEISGVAFIFNQKFFQELREATGIDLENIVYYKDDTHYFVMTAKKQSLLDKGVIL
HDYADTELLLSRENVDQEALLSYAREAADFSTQQQLPSLDFAINHYGQPDVAMFDFTCMYASENAALVREQNGHQLLVALVGDSLLEPFWPMGTGIARGFLAAMD
SAWMVRSWSLGTSPLEVLAERESIYRLLPQTTPENVSKNFSQYSIDPVTRYPNINVNFLRPSQVRHLYDTGETKDIHLEMESLVNSRTTPKLTRNESVARSSKLL
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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) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Roubertie, 2001 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Niklasson, 2002 | Sweden | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Ramelli, 2008 | - | FISH | ![]() | ![]() | ASD | - | - | - | - | 1 | - | 1 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bailey, 1998 | - | microsatellite-based genomic screen | ![]() | ![]() | PDD | 99 | - | 99 | - | - | - | - |






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. |






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