Evidence Details for MYO5B
Basic Information Top
| Gene Symbol: | MYO5B ( KIAA1119 ) |
|---|---|
| Gene Full Name: | myosin VB |
| Band: | 18q |
| Quick Links | Entrez ID:4645; OMIM: 606540; Uniprot ID:MYO5B_HUMAN; ENSEMBL ID: ENSG00000167306; HGNC ID: 7603 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MYO5B|4645|nucleotide
ATGTCGGTGGGCGAGCTCTACAGCCAGTGCACAAGGGTCTGGATCCCTGACCCTGATGAGGTATGGCGCTCAGCTGAGTTAACCAAGGACTACAAAGAAGGAGAC
AAGAGCCTACAGCTCAGACTGGAGGATGAAACGATTCTGGAATACCCAATTGATGTACAACGCAACCAGCTGCCCTTCTTACGGAATCCAGATATCTTGGTGGGA
GAAAATGACCTGACTGCCCTTAGCTATCTTCATGAGCCTGCAGTTTTGCATAATTTGAAGGTCCGTTTCCTGGAGTCCAACCATATCTACACTTACTGTGGTATC
GTACTTGTTGCCATTAATCCTTATGAACAGTTGCCAATCTATGGACAAGATGTCATCTATACCTACAGTGGCCAAAACATGGGAGACATGGACCCCCACATCTTT
GCTGTGGCAGAAGAAGCCTACAAGCAGATGGCCAGAGATGAGAAGAATCAGTCCATCATAGTCAGTGGGGAGTCTGGAGCCGGGAAGACGGTATCAGCCAAGTAT
GCCATGCGCTATTTCGCCACCGTTGGTGGCTCGGCCAGTGAAACCAACATCGAAGAGAAGGTGCTGGCATCCAGTCCCATCATGGAGGCCATTGGAAATGCCAAG
ACCACCCGCAATGACAACAGCAGCCGTTTTGGCAAGTACATCCAGATTGGCTTTGACAAAAGGTACCACATCATCGGGGCCAACATGAGGACTTACCTCTTGGAG
AAGTCCAGAGTGGTCTTCCAGGCAGATGATGAGAGGAATTACCACATCTTTTACCAGCTCTGTGCTGCTGCCGGTCTTCCAGAATTTAAAGAGCTTGCACTAACA
AGTGCAGAGGACTTTTTCTATACATCACAGGGAGGAGACACTTCCATCGAGGGTGTGGACGATGCTGAGGACTTTGAGAAGACTCGACAAGCCTTCACACTCCTC
GGAGTGAAAGAGTCCCATCAGATGAGCATTTTTAAGATAATTGCTTCTATCTTGCACCTTGGAAGTGTGGCGATTCAGGCTGAGCGTGATGGTGATTCCTGTAGT
ATATCACCCCAGGATGTATACCTAAGCAACTTCTGCCGACTGCTAGGGGTGGAGCACAGTCAGATGGAGCACTGGCTGTGTCATCGCAAGCTGGTCACCACCTCG
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ATGTCGGTGGGCGAGCTCTACAGCCAGTGCACAAGGGTCTGGATCCCTGACCCTGATGAGGTATGGCGCTCAGCTGAGTTAACCAAGGACTACAAAGAAGGAGAC
AAGAGCCTACAGCTCAGACTGGAGGATGAAACGATTCTGGAATACCCAATTGATGTACAACGCAACCAGCTGCCCTTCTTACGGAATCCAGATATCTTGGTGGGA
GAAAATGACCTGACTGCCCTTAGCTATCTTCATGAGCCTGCAGTTTTGCATAATTTGAAGGTCCGTTTCCTGGAGTCCAACCATATCTACACTTACTGTGGTATC
GTACTTGTTGCCATTAATCCTTATGAACAGTTGCCAATCTATGGACAAGATGTCATCTATACCTACAGTGGCCAAAACATGGGAGACATGGACCCCCACATCTTT
GCTGTGGCAGAAGAAGCCTACAAGCAGATGGCCAGAGATGAGAAGAATCAGTCCATCATAGTCAGTGGGGAGTCTGGAGCCGGGAAGACGGTATCAGCCAAGTAT
GCCATGCGCTATTTCGCCACCGTTGGTGGCTCGGCCAGTGAAACCAACATCGAAGAGAAGGTGCTGGCATCCAGTCCCATCATGGAGGCCATTGGAAATGCCAAG
ACCACCCGCAATGACAACAGCAGCCGTTTTGGCAAGTACATCCAGATTGGCTTTGACAAAAGGTACCACATCATCGGGGCCAACATGAGGACTTACCTCTTGGAG
AAGTCCAGAGTGGTCTTCCAGGCAGATGATGAGAGGAATTACCACATCTTTTACCAGCTCTGTGCTGCTGCCGGTCTTCCAGAATTTAAAGAGCTTGCACTAACA
AGTGCAGAGGACTTTTTCTATACATCACAGGGAGGAGACACTTCCATCGAGGGTGTGGACGATGCTGAGGACTTTGAGAAGACTCGACAAGCCTTCACACTCCTC
GGAGTGAAAGAGTCCCATCAGATGAGCATTTTTAAGATAATTGCTTCTATCTTGCACCTTGGAAGTGTGGCGATTCAGGCTGAGCGTGATGGTGATTCCTGTAGT
ATATCACCCCAGGATGTATACCTAAGCAACTTCTGCCGACTGCTAGGGGTGGAGCACAGTCAGATGGAGCACTGGCTGTGTCATCGCAAGCTGGTCACCACCTCG
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>MYO5B|4645|protein
MSVGELYSQCTRVWIPDPDEVWRSAELTKDYKEGDKSLQLRLEDETILEYPIDVQRNQLPFLRNPDILVGENDLTALSYLHEPAVLHNLKVRFLESNHIYTYCGI
VLVAINPYEQLPIYGQDVIYTYSGQNMGDMDPHIFAVAEEAYKQMARDEKNQSIIVSGESGAGKTVSAKYAMRYFATVGGSASETNIEEKVLASSPIMEAIGNAK
TTRNDNSSRFGKYIQIGFDKRYHIIGANMRTYLLEKSRVVFQADDERNYHIFYQLCAAAGLPEFKELALTSAEDFFYTSQGGDTSIEGVDDAEDFEKTRQAFTLL
GVKESHQMSIFKIIASILHLGSVAIQAERDGDSCSISPQDVYLSNFCRLLGVEHSQMEHWLCHRKLVTTSETYVKTMSLQQVINARNALAKHIYAQLFGWIVEHI
NKALHTSLKQHSFIGVLDIYGFETFEVNSFEQFCINYANEKLQQQFNSHVFKLEQEEYMKEQIPWTLIDFYDNQPCIDLIEAKLGILDLLDEECKVPKGTDQNWA
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MSVGELYSQCTRVWIPDPDEVWRSAELTKDYKEGDKSLQLRLEDETILEYPIDVQRNQLPFLRNPDILVGENDLTALSYLHEPAVLHNLKVRFLESNHIYTYCGI
VLVAINPYEQLPIYGQDVIYTYSGQNMGDMDPHIFAVAEEAYKQMARDEKNQSIIVSGESGAGKTVSAKYAMRYFATVGGSASETNIEEKVLASSPIMEAIGNAK
TTRNDNSSRFGKYIQIGFDKRYHIIGANMRTYLLEKSRVVFQADDERNYHIFYQLCAAAGLPEFKELALTSAEDFFYTSQGGDTSIEGVDDAEDFEKTRQAFTLL
GVKESHQMSIFKIIASILHLGSVAIQAERDGDSCSISPQDVYLSNFCRLLGVEHSQMEHWLCHRKLVTTSETYVKTMSLQQVINARNALAKHIYAQLFGWIVEHI
NKALHTSLKQHSFIGVLDIYGFETFEVNSFEQFCINYANEKLQQQFNSHVFKLEQEEYMKEQIPWTLIDFYDNQPCIDLIEAKLGILDLLDEECKVPKGTDQNWA
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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 | 0 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) | | | AS | - (3-21) |
- >70 | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage 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 screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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 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.