Evidence Details for UPF3B
Basic Information Top
| Gene Symbol: | UPF3B ( HUPF3B,MRXS14,RENT3B,UPF3X ) |
|---|---|
| Gene Full Name: | UPF3 regulator of nonsense transcripts homolog B (yeast) |
| Band: | Xq24 |
| Quick Links | Entrez ID:65109; OMIM: 300298; Uniprot ID:REN3B_HUMAN; ENSEMBL ID: ENSG00000125351; HGNC ID: 20439 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>UPF3B|65109|nucleotide
ATGAAGGAAGAGAAGGAGCACAGGCCTAAGGAGAAGCGAGTAACCCTGTTAACCCCCGCCGGGGCCACAGGCAGCGGTGGTGGGACCTCGGGGGACAGCTCCAAG
GGGGAAGATAAGCAGGATCGCAACAAGGAGAAGAAAGAAGCGCTGAGCAAGGTGGTAATTCGAAGATTACCTCCCACTTTGACCAAGGAGCAGCTTCAGGAACAT
CTTCAACCTATGCCTGAGCATGATTATTTTGAGTTTTTTTCTAATGATACGAGTTTGTATCCTCATATGTATGCCAGAGCATACATCAACTTTAAAAACCAAGAG
GACATTATTTTGTTCAGGGATCGCTTTGATGGTTATGTATTCCTTGACAATAAAGGTCAGGAATATCCCGCTATAGTAGAATTTGCACCTTTTCAAAAAGCTGCA
AAAAAGAAGACTAAGAAAAGAGATACCAAAGTCGGGACTATCGATGATGATCCAGAATATAGAAAGTTTTTGGAAAGTTATGCCACAGATAATGAGAAAATGACA
TCTACTCCAGAGACACTGCTAGAGGAAATAGAAGCAAAAAATAGAGAATTAATAGCTAAAAAGACAACCCCACTTTTGAGCTTCCTGAAAAACAAGCAGAGAATG
AGAGAAGAAAAGAGAGAAGAAAGGAGGAGGAGAGAAATAGAAAGAAAAAGACAAAGAGAAGAAGAGAGGAGGAAATGGAAAGAAGAAGAGAAACGAAAAAGGAAA
GATATAGAAAAGCTAAAGAAGATAGACAGAATTCCAGAAAGGGACAAATTAAAGGATGAACCAAAGATTAAGCTGCTCAAGAAGCCAGAAAAAGGAGATGAAAAA
GAATTGGACAAAAGAGAAAAAGCCAAGAAATTGGACAAAGAGAATCTCAGTGATGAAAGAGCCAGTGGGCAAAGTTGTACATTGCCCAAGCGTTCTGATAGCGAA
CTTAAAGATGAAAAACCAAAGAGACCTGAAGATGAGAGCGGCAGAGACTATAGGGAGAGGGAACGGGAATATGAACGAGATCAGGAGCGCATACTTCGAGAAAGA
GAGAGGCTGAAGCGGCAAGAAGAAGAGCGCCGTAGGCAGAAGGAGCGCTATGAGAAAGAGAAGACTTTTAAGAGAAAAGAAGAAGAAATGAAAAAAGAGAAAGAC
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ATGAAGGAAGAGAAGGAGCACAGGCCTAAGGAGAAGCGAGTAACCCTGTTAACCCCCGCCGGGGCCACAGGCAGCGGTGGTGGGACCTCGGGGGACAGCTCCAAG
GGGGAAGATAAGCAGGATCGCAACAAGGAGAAGAAAGAAGCGCTGAGCAAGGTGGTAATTCGAAGATTACCTCCCACTTTGACCAAGGAGCAGCTTCAGGAACAT
CTTCAACCTATGCCTGAGCATGATTATTTTGAGTTTTTTTCTAATGATACGAGTTTGTATCCTCATATGTATGCCAGAGCATACATCAACTTTAAAAACCAAGAG
GACATTATTTTGTTCAGGGATCGCTTTGATGGTTATGTATTCCTTGACAATAAAGGTCAGGAATATCCCGCTATAGTAGAATTTGCACCTTTTCAAAAAGCTGCA
AAAAAGAAGACTAAGAAAAGAGATACCAAAGTCGGGACTATCGATGATGATCCAGAATATAGAAAGTTTTTGGAAAGTTATGCCACAGATAATGAGAAAATGACA
TCTACTCCAGAGACACTGCTAGAGGAAATAGAAGCAAAAAATAGAGAATTAATAGCTAAAAAGACAACCCCACTTTTGAGCTTCCTGAAAAACAAGCAGAGAATG
AGAGAAGAAAAGAGAGAAGAAAGGAGGAGGAGAGAAATAGAAAGAAAAAGACAAAGAGAAGAAGAGAGGAGGAAATGGAAAGAAGAAGAGAAACGAAAAAGGAAA
GATATAGAAAAGCTAAAGAAGATAGACAGAATTCCAGAAAGGGACAAATTAAAGGATGAACCAAAGATTAAGCTGCTCAAGAAGCCAGAAAAAGGAGATGAAAAA
GAATTGGACAAAAGAGAAAAAGCCAAGAAATTGGACAAAGAGAATCTCAGTGATGAAAGAGCCAGTGGGCAAAGTTGTACATTGCCCAAGCGTTCTGATAGCGAA
CTTAAAGATGAAAAACCAAAGAGACCTGAAGATGAGAGCGGCAGAGACTATAGGGAGAGGGAACGGGAATATGAACGAGATCAGGAGCGCATACTTCGAGAAAGA
GAGAGGCTGAAGCGGCAAGAAGAAGAGCGCCGTAGGCAGAAGGAGCGCTATGAGAAAGAGAAGACTTTTAAGAGAAAAGAAGAAGAAATGAAAAAAGAGAAAGAC
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>UPF3B|65109|protein
MKEEKEHRPKEKRVTLLTPAGATGSGGGTSGDSSKGEDKQDRNKEKKEALSKVVIRRLPPTLTKEQLQEHLQPMPEHDYFEFFSNDTSLYPHMYARAYINFKNQE
DIILFRDRFDGYVFLDNKGQEYPAIVEFAPFQKAAKKKTKKRDTKVGTIDDDPEYRKFLESYATDNEKMTSTPETLLEEIEAKNRELIAKKTTPLLSFLKNKQRM
REEKREERRRREIERKRQREEERRKWKEEEKRKRKDIEKLKKIDRIPERDKLKDEPKIKLLKKPEKGDEKELDKREKAKKLDKENLSDERASGQSCTLPKRSDSE
LKDEKPKRPEDESGRDYREREREYERDQERILRERERLKRQEEERRRQKERYEKEKTFKRKEEEMKKEKDTLRDKGKKAESTESIGSSEKTEKKEEVVKRDRIRN
KDRPAMQLYQPGARSRNRLCPPDDSTKSGDSAAERKQESGISHRKEGGEE
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MKEEKEHRPKEKRVTLLTPAGATGSGGGTSGDSSKGEDKQDRNKEKKEALSKVVIRRLPPTLTKEQLQEHLQPMPEHDYFEFFSNDTSLYPHMYARAYINFKNQE
DIILFRDRFDGYVFLDNKGQEYPAIVEFAPFQKAAKKKTKKRDTKVGTIDDDPEYRKFLESYATDNEKMTSTPETLLEEIEAKNRELIAKKTTPLLSFLKNKQRM
REEKREERRRREIERKRQREEERRKWKEEEKRKRKDIEKLKKIDRIPERDKLKDEPKIKLLKKPEKGDEKELDKREKAKKLDKENLSDERASGQSCTLPKRSDSE
LKDEKPKRPEDESGRDYREREREYERDQERILRERERLKRQEEERRRQKERYEKEKTFKRKEEEMKKEKDTLRDKGKKAESTESIGSSEKTEKKEEVVKRDRIRN
KDRPAMQLYQPGARSRNRLCPPDDSTKSGDSAAERKQESGISHRKEGGEE
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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) | Yes | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Mental retardation, X-linked, syndromic 14 (300676) |
| Description | Non-syndromic X-linked ID with or without autism |
| Reference(s) | 20820168; 19238151; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow 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 |
|---|---|---|---|---|
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
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.