16p11.2 proximal deletion syndrome (Homo sapiens)

From WikiPathways

Jump to: navigation, search
RNA geneChromosome 16: 30,190,593Chromosome 16: 29,592,751TAOK2HIRIP3GDPD3SPNSLC7A5P1PAGR1SMG1P2ALDOACDIPTQPRTINO80ETBX6SEZ6L2PPP4CKIF22RN7SKP127MAPK3CDIPTOSPCA5AP1C16orf54ASPHD1hsa-mir-3680-2ZG16MAZDOC2AKCTD13TMEM219PRRT2TLCD3BYPEL3C16orf92MVPCORO1Apseudo gene


Description

16p11.2 proximal deletion syndrome is a rare genetic disorder (copy number variation) caused by a deletion in the region of chromosome 16 from 29,592,751 to 30,190,593 bp.

Quality Tags

Ontology Terms

 

Bibliography

No bibliography


History

View all...
CompareRevisionActionTimeUserComment
111261view15:35, 27 July 2020FehrhartModified description
111257view15:34, 27 July 2020FehrhartOntology Term : 'chromosome 16p11.2 deletion syndrome, 220kb' added !
111256view15:34, 27 July 2020FehrhartOntology Term : 'disease pathway' added !
111255view15:34, 27 July 2020FehrhartOntology Term : 'genetic disease' added !
111253view15:32, 27 July 2020FehrhartModified description
111251view15:20, 27 July 2020FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ALDOAGeneProductENSG00000149925 (Ensembl)
ASPHD1GeneProductENSG00000174939 (Ensembl)
C16orf54GeneProductENSG00000185905 (Ensembl)
C16orf92GeneProductENSG00000167194 (Ensembl)
CA5AP1GeneProductENSG00000260133 (Ensembl)
CDIPTGeneProductENSG00000103502 (Ensembl)
CDIPTOSPGeneProductENSG00000214725 (Ensembl)
CORO1AGeneProductENSG00000102879 (Ensembl)
DOC2AGeneProductENSG00000149927 (Ensembl)
GDPD3GeneProductENSG00000102886 (Ensembl)
HIRIP3GeneProductENSG00000149929 (Ensembl)
INO80EGeneProductENSG00000169592 (Ensembl)
KCTD13GeneProductENSG00000174943 (Ensembl)
KIF22GeneProductENSG00000079616 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MAZGeneProductENSG00000103495 (Ensembl)
MVPGeneProductENSG00000013364 (Ensembl)
PAGR1GeneProductENSG00000280789 (Ensembl)
PPP4CGeneProductENSG00000149923 (Ensembl)
PRRT2GeneProductENSG00000167371 (Ensembl)
QPRTGeneProductENSG00000103485 (Ensembl)
RN7SKP127GeneProductENSG00000222375 (Ensembl)
SEZ6L2GeneProductENSG00000174938 (Ensembl)
SLC7A5P1GeneProductENSG00000260727 (Ensembl)
SMG1P2GeneProductENSG00000205534 (Ensembl)
SPNGeneProductENSG00000197471 (Ensembl)
TAOK2GeneProductENSG00000149930 (Ensembl)
TBX6GeneProductENSG00000149922 (Ensembl)
TLCD3BGeneProductENSG00000149926 (Ensembl)
TMEM219GeneProductENSG00000149932 (Ensembl)
YPEL3GeneProductENSG00000090238 (Ensembl)
ZG16GeneProductENSG00000174992 (Ensembl)
hsa-mir-3680-2GeneProductMI0019113 (miRBase Sequence)

Annotated Interactions

No annotated interactions

Personal tools