Evidence Details for MYO3B
Basic Information Top
| Gene Symbol: | MYO3B ( - ) |
|---|---|
| Gene Full Name: | myosin IIIB |
| Band: | 2q31.1 |
| Quick Links | Entrez ID:140469; OMIM: 610040; Uniprot ID:MYO3B_HUMAN; ENSEMBL ID: ENSG00000071909; HGNC ID: 15576 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MYO3B|140469|nucleotide
ATGAAACATCTGTATGGATTATTTCACTATAATCCTATGATGCTTGGACTTGAATCACTTCCAGATCCCACAGACACCTGGGAAATTATAGAGACCATTGGTAAA
GGCACCTATGGCAAAGTCTACAAGGTAACTAACAAGAGAGATGGGAGCCTGGCTGCAGTGAAAATTCTGGATCCAGTCAGTGATATGGATGAAGAAATTGAGGCA
GAATACAACATTTTGCAGTTCCTTCCTAATCATCCCAATGTTGTAAAGTTTTATGGGATGTTTTACAAAGCGGATCACTGTGTAGGGGGACAGCTGTGGCTGGTC
CTGGAGCTGTGTAATGGGGGCTCAGTCACTGAGCTTGTCAAAGGTCTACTCAGATGTGGCCAGCGGTTGGATGAAGCAATGATCTCATACATCTTGTACGGGGCC
CTCTTGGGCCTTCAGCATTTGCACAACAACCGAATCATCCACCGTGATGTGAAGGGGAATAACATTCTTCTGACAACAGAAGGAGGAGTTAAGCTCGTTGACTTT
GGTGTTTCAGCTCAACTCACCAGTACACGTCTGCGGAGAAACACATCTGTTGGCACCCCGTTCTGGATGGCCCCTGAGGTCATTGCCTGTGAGCAGCAGTATGAC
TCTTCCTATGACGCTCGCTGTGACGTCTGGTCCTTGGGGATCACAGCTATTGAACTGGGGGATGGAGACCCTCCCCTCTTTGACATGCATCCTGTGAAAACACTC
TTTAAGATTCCAAGAAATCCTCCACCTACTTTACTTCATCCAGAAAAATGGTGTGAAGAATTCAACCACTTTATTTCACAGTGTCTTATTAAGGATTTTGAAAGG
CGACCTTCCGTCACACATCTCCTTGACCACCCATTTATTAAAGGAGTACATGGAAAAGTTCTGTTTCTGCAAAAACAGCTGGCCAAGGTTCTCCAAGACCAGAAG
CATCAAAATCCTGTTGCTAAAACCAGGCATGAGAGGATGCATACCAGAAGACCTTATCATGTGGAAGATGCTGAAAAATACTGCCTTGAGGATGATTTGGTCAAC
CTAGAGGTTCTGGATGAGGATACAATTATCCATCAGTTGCAGAAACGTTATGCAGACTTGCTAATTTACACATATGTTGGAGACATCTTAATTGCCTTAAACCCC
Show »
ATGAAACATCTGTATGGATTATTTCACTATAATCCTATGATGCTTGGACTTGAATCACTTCCAGATCCCACAGACACCTGGGAAATTATAGAGACCATTGGTAAA
GGCACCTATGGCAAAGTCTACAAGGTAACTAACAAGAGAGATGGGAGCCTGGCTGCAGTGAAAATTCTGGATCCAGTCAGTGATATGGATGAAGAAATTGAGGCA
GAATACAACATTTTGCAGTTCCTTCCTAATCATCCCAATGTTGTAAAGTTTTATGGGATGTTTTACAAAGCGGATCACTGTGTAGGGGGACAGCTGTGGCTGGTC
CTGGAGCTGTGTAATGGGGGCTCAGTCACTGAGCTTGTCAAAGGTCTACTCAGATGTGGCCAGCGGTTGGATGAAGCAATGATCTCATACATCTTGTACGGGGCC
CTCTTGGGCCTTCAGCATTTGCACAACAACCGAATCATCCACCGTGATGTGAAGGGGAATAACATTCTTCTGACAACAGAAGGAGGAGTTAAGCTCGTTGACTTT
GGTGTTTCAGCTCAACTCACCAGTACACGTCTGCGGAGAAACACATCTGTTGGCACCCCGTTCTGGATGGCCCCTGAGGTCATTGCCTGTGAGCAGCAGTATGAC
TCTTCCTATGACGCTCGCTGTGACGTCTGGTCCTTGGGGATCACAGCTATTGAACTGGGGGATGGAGACCCTCCCCTCTTTGACATGCATCCTGTGAAAACACTC
TTTAAGATTCCAAGAAATCCTCCACCTACTTTACTTCATCCAGAAAAATGGTGTGAAGAATTCAACCACTTTATTTCACAGTGTCTTATTAAGGATTTTGAAAGG
CGACCTTCCGTCACACATCTCCTTGACCACCCATTTATTAAAGGAGTACATGGAAAAGTTCTGTTTCTGCAAAAACAGCTGGCCAAGGTTCTCCAAGACCAGAAG
CATCAAAATCCTGTTGCTAAAACCAGGCATGAGAGGATGCATACCAGAAGACCTTATCATGTGGAAGATGCTGAAAAATACTGCCTTGAGGATGATTTGGTCAAC
CTAGAGGTTCTGGATGAGGATACAATTATCCATCAGTTGCAGAAACGTTATGCAGACTTGCTAATTTACACATATGTTGGAGACATCTTAATTGCCTTAAACCCC
Show »
>MYO3B|140469|protein
MKHLYGLFHYNPMMLGLESLPDPTDTWEIIETIGKGTYGKVYKVTNKRDGSLAAVKILDPVSDMDEEIEAEYNILQFLPNHPNVVKFYGMFYKADHCVGGQLWLV
LELCNGGSVTELVKGLLRCGQRLDEAMISYILYGALLGLQHLHNNRIIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRLRRNTSVGTPFWMAPEVIACEQQYD
SSYDARCDVWSLGITAIELGDGDPPLFDMHPVKTLFKIPRNPPPTLLHPEKWCEEFNHFISQCLIKDFERRPSVTHLLDHPFIKGVHGKVLFLQKQLAKVLQDQK
HQNPVAKTRHERMHTRRPYHVEDAEKYCLEDDLVNLEVLDEDTIIHQLQKRYADLLIYTYVGDILIALNPFQNLSIYSPQFSRLYHGVKRASNPPHIFASADAAY
QCMVTLSKDQCIVISGESGSGKTESAHLIVQHLTFLGKANNQTLREKILQVNSLVEAFGNSCTAINDNSSRFGKYLEMMFTPTGVVMGARISEYLLEKSRVIKQA
Show »
MKHLYGLFHYNPMMLGLESLPDPTDTWEIIETIGKGTYGKVYKVTNKRDGSLAAVKILDPVSDMDEEIEAEYNILQFLPNHPNVVKFYGMFYKADHCVGGQLWLV
LELCNGGSVTELVKGLLRCGQRLDEAMISYILYGALLGLQHLHNNRIIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRLRRNTSVGTPFWMAPEVIACEQQYD
SSYDARCDVWSLGITAIELGDGDPPLFDMHPVKTLFKIPRNPPPTLLHPEKWCEEFNHFISQCLIKDFERRPSVTHLLDHPFIKGVHGKVLFLQKQLAKVLQDQK
HQNPVAKTRHERMHTRRPYHVEDAEKYCLEDDLVNLEVLDEDTIIHQLQKRYADLLIYTYVGDILIALNPFQNLSIYSPQFSRLYHGVKRASNPPHIFASADAAY
QCMVTLSKDQCIVISGESGSGKTESAHLIVQHLTFLGKANNQTLREKILQVNSLVEAFGNSCTAINDNSSRFGKYLEMMFTPTGVVMGARISEYLLEKSRVIKQA
Show »
Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 | 1 (1) | 0 (1) | 2 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 8 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Maestrini, 2009_4 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 126 (18.25%) |  | | ASD | - - |
- | 188 (18.09%) |
- - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | |  | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.