16p11.2 distal deletion syndrome (Homo sapiens)

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RNA geneChromosome 16:28,740,000 - 28,950,000 bpTUFMATP2A1-AS1SH2B1NPIPB9RABEP2CD19ATP2A1hsa-mir-4721ATXN2L


Description

16p11.2 distal deletion syndrome is a rare genetic disorder (copy number variation) caused by a deletion on chromosome 16 in the range 28.74-28.95-Mb.

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Ontology Terms

 

Bibliography

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History

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CompareRevisionActionTimeUserComment
111260view15:35, 27 July 2020FehrhartOntology Term : 'genetic disease' added !
111259view15:35, 27 July 2020FehrhartOntology Term : 'disease pathway' added !
111258view15:35, 27 July 2020FehrhartOntology Term : 'chromosome 16p11.2 deletion syndrome, 220kb' added !
111254view15:33, 27 July 2020FehrhartModified description
111252view15:28, 27 July 2020FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ATP2A1-AS1GeneProductENSG00000260442 (Ensembl)
ATP2A1GeneProductENSG00000196296 (Ensembl)
ATXN2LGeneProductENSG00000168488 (Ensembl)
CD19GeneProductENSG00000177455 (Ensembl)
NPIPB9GeneProductENSG00000196993 (Ensembl)
RABEP2GeneProductENSG00000177548 (Ensembl)
SH2B1GeneProductENSG00000178188 (Ensembl)
TUFMGeneProductENSG00000178952 (Ensembl)
hsa-mir-4721GeneProductMI0017356 (miRBase Sequence)

Annotated Interactions

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