Evidence Details for ARRB1
Basic Information Top
| Gene Symbol: | ARRB1 ( ARB1,ARR1 ) |
|---|---|
| Gene Full Name: | arrestin, beta 1 |
| Band: | 11q13.4 |
| Quick Links | Entrez ID:408; OMIM: 107940; Uniprot ID:ARRB1_HUMAN; ENSEMBL ID: ENSG00000137486; HGNC ID: 711 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ARRB1|408|nucleotide
ATGGGCGACAAAGGGACCCGAGTGTTCAAGAAGGCCAGTCCAAATGGAAAGCTCACCGTCTACCTGGGAAAGCGGGACTTTGTGGACCACATCGACCTCGTGGAC
CCTGTGGATGGTGTGGTCCTGGTGGATCCTGAGTATCTCAAAGAGCGGAGAGTCTATGTGACGCTGACCTGCGCCTTCCGCTATGGCCGGGAGGACCTGGATGTC
CTGGGCCTGACCTTTCGCAAGGACCTGTTTGTGGCCAACGTACAGTCGTTCCCACCGGCCCCCGAGGACAAGAAGCCCCTGACGCGGCTGCAGGAACGCCTCATC
AAGAAGCTGGGCGAGCACGCTTACCCTTTCACCTTTGAGATCCCTCCAAACCTTCCATGTTCTGTGACACTGCAGCCGGGGCCCGAAGACACGGGGAAGGCTTGC
GGTGTGGACTATGAAGTCAAAGCCTTCTGCGCGGAGAATTTGGAGGAGAAGATCCACAAGCGGAATTCTGTGCGTCTGGTCATCCGGAAGGTTCAGTATGCCCCA
GAGAGGCCTGGCCCCCAGCCCACAGCCGAGACCACCAGGCAGTTCCTCATGTCGGACAAGCCCTTGCACCTAGAAGCCTCTCTGGATAAGGAGATCTATTACCAT
GGAGAACCCATCAGCGTCAACGTCCACGTCACCAACAACACCAACAAGACGGTGAAGAAGATCAAGATCTCAGTGCGCCAGTATGCAGACATCTGCCTTTTCAAC
ACAGCTCAGTACAAGTGCCCTGTTGCCATGGAAGAGGCTGATGACACTGTGGCACCCAGCTCGACGTTCTGCAAGGTCTACACACTGACCCCCTTCCTAGCCAAT
AACCGAGAGAAGCGGGGCCTCGCCTTGGACGGGAAGCTCAAGCACGAAGACACGAACTTGGCCTCTAGCACCCTGTTGAGGGAAGGTGCCAACCGTGAGATCCTG
GGGATCATTGTTTCCTACAAAGTGAAAGTGAAGCTGGTGGTGTCTCGGGGCGGCCTGTTGGGAGATCTTGCATCCAGCGACGTGGCCGTGGAACTGCCCTTCACC
CTAATGCACCCCAAGCCCAAAGAGGAACCCCCGCATCGGGAAGTTCCAGAGAACGAGACGCCAGTAGATACCAATCTCATAGAACTTGACACAAATGATGACGAC
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ATGGGCGACAAAGGGACCCGAGTGTTCAAGAAGGCCAGTCCAAATGGAAAGCTCACCGTCTACCTGGGAAAGCGGGACTTTGTGGACCACATCGACCTCGTGGAC
CCTGTGGATGGTGTGGTCCTGGTGGATCCTGAGTATCTCAAAGAGCGGAGAGTCTATGTGACGCTGACCTGCGCCTTCCGCTATGGCCGGGAGGACCTGGATGTC
CTGGGCCTGACCTTTCGCAAGGACCTGTTTGTGGCCAACGTACAGTCGTTCCCACCGGCCCCCGAGGACAAGAAGCCCCTGACGCGGCTGCAGGAACGCCTCATC
AAGAAGCTGGGCGAGCACGCTTACCCTTTCACCTTTGAGATCCCTCCAAACCTTCCATGTTCTGTGACACTGCAGCCGGGGCCCGAAGACACGGGGAAGGCTTGC
GGTGTGGACTATGAAGTCAAAGCCTTCTGCGCGGAGAATTTGGAGGAGAAGATCCACAAGCGGAATTCTGTGCGTCTGGTCATCCGGAAGGTTCAGTATGCCCCA
GAGAGGCCTGGCCCCCAGCCCACAGCCGAGACCACCAGGCAGTTCCTCATGTCGGACAAGCCCTTGCACCTAGAAGCCTCTCTGGATAAGGAGATCTATTACCAT
GGAGAACCCATCAGCGTCAACGTCCACGTCACCAACAACACCAACAAGACGGTGAAGAAGATCAAGATCTCAGTGCGCCAGTATGCAGACATCTGCCTTTTCAAC
ACAGCTCAGTACAAGTGCCCTGTTGCCATGGAAGAGGCTGATGACACTGTGGCACCCAGCTCGACGTTCTGCAAGGTCTACACACTGACCCCCTTCCTAGCCAAT
AACCGAGAGAAGCGGGGCCTCGCCTTGGACGGGAAGCTCAAGCACGAAGACACGAACTTGGCCTCTAGCACCCTGTTGAGGGAAGGTGCCAACCGTGAGATCCTG
GGGATCATTGTTTCCTACAAAGTGAAAGTGAAGCTGGTGGTGTCTCGGGGCGGCCTGTTGGGAGATCTTGCATCCAGCGACGTGGCCGTGGAACTGCCCTTCACC
CTAATGCACCCCAAGCCCAAAGAGGAACCCCCGCATCGGGAAGTTCCAGAGAACGAGACGCCAGTAGATACCAATCTCATAGAACTTGACACAAATGATGACGAC
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>ARRB1|408|protein
MGDKGTRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLKERRVYVTLTCAFRYGREDLDVLGLTFRKDLFVANVQSFPPAPEDKKPLTRLQERLI
KKLGEHAYPFTFEIPPNLPCSVTLQPGPEDTGKACGVDYEVKAFCAENLEEKIHKRNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYYH
GEPISVNVHVTNNTNKTVKKIKISVRQYADICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLALDGKLKHEDTNLASSTLLREGANREIL
GIIVSYKVKVKLVVSRGGLLGDLASSDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLIELDTNDDDIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR
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MGDKGTRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLKERRVYVTLTCAFRYGREDLDVLGLTFRKDLFVANVQSFPPAPEDKKPLTRLQERLI
KKLGEHAYPFTFEIPPNLPCSVTLQPGPEDTGKACGVDYEVKAFCAENLEEKIHKRNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYYH
GEPISVNVHVTNNTNKTVKKIKISVRQYADICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLALDGKLKHEDTNLASSTLLREGANREIL
GIIVSYKVKVKLVVSRGGLLGDLASSDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLIELDTNDDDIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR
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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 (0) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 13 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_1 | mixed | lymphoblastoid cell lines | 35 (14.29%) | | | autism | autism | 12 (25.00%) |
1.91 | Up | 0.0495 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
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.