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7030 209446 Ensembl ENSG00000068323 ENSMUSG00000000134 UniProt P19532 Q64092 RefSeq (mRNA) NM_001282142 NM_006521 NM_001105196 NM_001105197 NM_001271489 NM_001271490 NM_001271491 NM_172472 RefSeq (protein) NP_001269071 NP_006512 NP_001098666 NP_001098667 NP_001258418 NP_001258419 NP_001258420 NP_766060 Location (UCSC) Chr X: 49.03 – 49.04 Mb Chr X: 7.63 – 7.64 Mb PubMed search Wikidata ...
In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. These cases are called translocation trisomy 13.
For example, Slade et al. applied this method to fine map a de novo balanced translocation in a child with Wilms' tumor. [15] For this study, 50 million reads were generated, but only 11.6% of these could be mapped uniquely to the reference genome, which represents approximately a sixfold coverage.
Alveolar rhabdomyosarcoma (ARMS) is an aggressive soft tissue sarcoma that occurs in children and is usually characterized by a recurrent t(2;13)(q35;q14) chromosomal translocation. [ 33 ] [ 34 ] This 2;13 translocation breaks and rejoins portions of the PAX3 and FOXO1 genes to generate a PAX3-FOXO1 fusion gene that expresses a PAX3-FOXO1 ...
Insertions or deletions can occur due to single mutations, unbalanced crossover in meiosis, slipped strand mispairing, and chromosomal translocation. [2] The notion of a gap in an alignment is important in many biological applications, since the insertions or deletions comprise an entire sub-sequence and often occur from a single mutational ...
Ah, Zion — a superstar talent with devastating injury concerns. Zion's history of missing games (he's played in 21 games this season) makes him almost a surefire candidate for "shutdown watch."
21676 Ensembl ENSG00000187079 ENSMUSG00000055320 UniProt P28347 P30051 RefSeq (mRNA) NM_021961 NM_001166584 NM_001166585 NM_009346 NM_175559 RefSeq (protein) NP_068780 NP_001160056 NP_001160057 NP_033372 Location (UCSC) Chr 11: 12.67 – 12.94 Mb Chr 7: 112.28 – 112.51 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Transcriptional enhancer factor TEF-1 also known as TEA domain ...
235320 Ensembl ENSG00000109906 ENSMUSG00000066687 UniProt Q05516 Q3UQ17 RefSeq (mRNA) NM_001018011 NM_006006 NM_001354750 NM_001354751 NM_001354752 NM_001033324 NM_001364543 RefSeq (protein) NP_001018011 NP_005997 NP_001341679 NP_001341680 NP_001341681 NP_001028496 NP_001351472 Location (UCSC) Chr 11: 114.06 – 114.26 Mb Chr 9: 48.57 – 48.75 Mb PubMed search Wikidata View/Edit Human View ...