Evidence Details for ACTR3B
Basic Information Top
| Gene Symbol: | ACTR3B ( ARP11,ARP3BETA,DKFZp686O24114 ) |
|---|---|
| Gene Full Name: | ARP3 actin-related protein 3 homolog B (yeast) |
| Band: | 7q36.1-q36.2 |
| Quick Links | Entrez ID:57180; OMIM: NA; Uniprot ID:ARP3B_HUMAN; ENSEMBL ID: ENSG00000133627; HGNC ID: 17256 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ACTR3B|57180|nucleotide
ATGGCAGGCTCCCTGCCTCCCTGCGTGGTGGACTGTGGCACCGGGTATACCAAGCTTGGCTACGCAGGCAACACTGAGCCCCAGTTCATTATTCCTTCATGTATT
GCCATCAGAGAGTCAGCAAAGGTAGTTGACCAAGCTCAAAGGAGAGTGTTGAGGGGAGTTGATGACCTTGACTTTTTCATAGGAGATGAAGCCATCGATAAACCT
ACATATGCTACAAAGTGGCCGATACGACATGGAATCATTGAAGACTGGGATCTTATGGAAAGGTTCATGGAGCAAGTGGTTTTTAAATATCTTCGAGCTGAACCT
GAGGACCATTATTTTTTAATGACAGAACCTCCACTCAATACACCAGAAAACAGAGAGTATCTTGCAGAAATTATGTTTGAATCATTTAACGTACCAGGACTCTAC
ATTGCAGTTCAGGCAGTGCTGGCCTTGGCGGCATCTTGGACATCTCGACAAGTGGGTGAACGTACGTTAACGGGGATAGTCATTGACAGCGGAGATGGAGTCACC
CATGTTATCCCAGTGGCAGAAGGTTATGTAATTGGAAGCTGCATCAAACACATCCCGATTGCAGGTAGAGATATTACGTATTTCATTCAACAGCTGCTAAGGGAG
AGGGAGGTGGGAATCCCTCCTGAGCAGTCACTGGAGACCGCAAAAGCCATTAAGGAGAAATACTGTTACATTTGCCCCGATATAGTCAAGGAATTTGCCAAGTAT
GATGTGGATCCCCGGAAGTGGATCAAACAGTACACGGGTATCAATGCGATCAACCAGAAGAAGTTTGTTATAGACGTTGGTTACGAAAGATTCCTGGGACCTGAA
ATATTCTTTCACCCGGAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTG
TATAAGCCCGAGTTCTTTCAGGTCTGCCACACCAAGAAGGACTATGAAGAGTACGGGCCCAGCATCTGCCGCCACAACCCCGTCTTTGGAGTCATGTCCTAG
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ATGGCAGGCTCCCTGCCTCCCTGCGTGGTGGACTGTGGCACCGGGTATACCAAGCTTGGCTACGCAGGCAACACTGAGCCCCAGTTCATTATTCCTTCATGTATT
GCCATCAGAGAGTCAGCAAAGGTAGTTGACCAAGCTCAAAGGAGAGTGTTGAGGGGAGTTGATGACCTTGACTTTTTCATAGGAGATGAAGCCATCGATAAACCT
ACATATGCTACAAAGTGGCCGATACGACATGGAATCATTGAAGACTGGGATCTTATGGAAAGGTTCATGGAGCAAGTGGTTTTTAAATATCTTCGAGCTGAACCT
GAGGACCATTATTTTTTAATGACAGAACCTCCACTCAATACACCAGAAAACAGAGAGTATCTTGCAGAAATTATGTTTGAATCATTTAACGTACCAGGACTCTAC
ATTGCAGTTCAGGCAGTGCTGGCCTTGGCGGCATCTTGGACATCTCGACAAGTGGGTGAACGTACGTTAACGGGGATAGTCATTGACAGCGGAGATGGAGTCACC
CATGTTATCCCAGTGGCAGAAGGTTATGTAATTGGAAGCTGCATCAAACACATCCCGATTGCAGGTAGAGATATTACGTATTTCATTCAACAGCTGCTAAGGGAG
AGGGAGGTGGGAATCCCTCCTGAGCAGTCACTGGAGACCGCAAAAGCCATTAAGGAGAAATACTGTTACATTTGCCCCGATATAGTCAAGGAATTTGCCAAGTAT
GATGTGGATCCCCGGAAGTGGATCAAACAGTACACGGGTATCAATGCGATCAACCAGAAGAAGTTTGTTATAGACGTTGGTTACGAAAGATTCCTGGGACCTGAA
ATATTCTTTCACCCGGAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTG
TATAAGCCCGAGTTCTTTCAGGTCTGCCACACCAAGAAGGACTATGAAGAGTACGGGCCCAGCATCTGCCGCCACAACCCCGTCTTTGGAGTCATGTCCTAG
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>ACTR3B|57180|protein
MAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFFIGDEAIDKPTYATKWPIRHGIIEDWDLMERFMEQVVFKYLRAEP
EDHYFLMTEPPLNTPENREYLAEIMFESFNVPGLYIAVQAVLALAASWTSRQVGERTLTGIVIDSGDGVTHVIPVAEGYVIGSCIKHIPIAGRDITYFIQQLLRE
REVGIPPEQSLETAKAIKEKYCYICPDIVKEFAKYDVDPRKWIKQYTGINAINQKKFVIDVGYERFLGPEIFFHPEFANPDFMESISDVVDEVIQNCPIDVRRPL
YKPEFFQVCHTKKDYEEYGPSICRHNPVFGVMS
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MAGSLPPCVVDCGTGYTKLGYAGNTEPQFIIPSCIAIRESAKVVDQAQRRVLRGVDDLDFFIGDEAIDKPTYATKWPIRHGIIEDWDLMERFMEQVVFKYLRAEP
EDHYFLMTEPPLNTPENREYLAEIMFESFNVPGLYIAVQAVLALAASWTSRQVGERTLTGIVIDSGDGVTHVIPVAEGYVIGSCIKHIPIAGRDITYFIQQLLRE
REVGIPPEQSLETAKAIKEKYCYICPDIVKEFAKYDVDPRKWIKQYTGINAINQKKFVIDVGYERFLGPEIFFHPEFANPDFMESISDVVDEVIQNCPIDVRRPL
YKPEFFQVCHTKKDYEEYGPSICRHNPVFGVMS
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Evidence summary Top
Click 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 (0) | 0 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Liu, 2001 | USA | microsatellite-based genomic screen | ![]() | ![]() | autism, ASD | 110 | - | 110 | - | - | - | - |
| Molloy, 2005 | USA | microsatellite-based genomic screen | ![]() | ![]() | ASD | 34 | - | 34 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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