16p11.2 proximal deletion syndrome (Homo sapiens)

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142-42-4Chromosome 16: 29,592,751RNA geneLymphocyte traffickingLympthocyte polarizationChromosome 16: 30,190,593GDPD3HIRIP35-phospho-α-D-ribose 1-diphosphateSEZ6L2QPRTMAPK3ASPHD1TMEM219PRRT2TAOK2nicotinate β-D-ribonucleotideMAZTLCD3BCO2YPEL3PPP4Cphthalic acidEZRSMG1P2C16orf54C16orf92ZG16CDIPTOSPMSNPAGR1diphosphate(3−)DOC2ASLC7A5P1INO80Ehsa-mir-3680-2TBX6quinolinateRN7SKP127CORO1ACDIPTKIF22SPNALDOACA5AP1KCTD13MVPpseudo gene12-42-42-42-4


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.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134719view16:18, 26 July 2024Ash iyerannotation for INO80 complex added.
134607view10:08, 23 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
125693view13:00, 7 March 2023Fehrhartremoved pseudogenes
115778view15:17, 11 March 2021FehrhartModified description
113592view08:18, 4 November 2020Fehrhartconnected unconnected lines
113017view05:57, 30 October 2020EgonwReplaced a secondary ChEBI identifier
112993view10:30, 29 October 2020Fehrhartfirst complete draft done
112992view10:19, 29 October 2020Fehrhartwork in progress
112991view09:34, 29 October 2020Fehrhartwork in progress
112982view13:14, 28 October 2020Fehrhartwork in progress
112961view07:25, 23 October 2020EgonwReplaced secondary ChEBI identifiers
112957view15:22, 22 October 2020Fehrhartwork in progress
112956view15:03, 22 October 2020Fehrhartwork in progress
112946view09:01, 22 October 2020Fehrhartwork in progress
112920view10:24, 20 October 2020Fehrhartwork in progress
112918view10:07, 20 October 2020Fehrhartwork in progress
112917view09:36, 20 October 2020Fehrhartwork in progress
112846view05:47, 12 October 2020EgonwReplaced secondary ChEBI IDs with primary IDs
112286view13:02, 9 October 2020Fehrhartwork in progress
112285view12:14, 9 October 2020Fehrhartwork in progress
112284view11:34, 9 October 2020Fehrhartwork in progress
112283view11:05, 9 October 2020Fehrhartwork in progress
112282view10:16, 9 October 2020Fehrhartwork in progress
112269view15:03, 8 October 2020Fehrhartwork in progress
112128view20:40, 25 September 2020Khanspersdecreased board size
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
5-phospho-α-D-ribose 1-diphosphateMetabolite58017 (ChEBI)
ALDOAGeneProductENSG00000149925 (Ensembl)
ASPHD1GeneProductENSG00000174939 (Ensembl)
C16orf54GeneProductENSG00000185905 (Ensembl)
C16orf92GeneProductENSG00000167194 (Ensembl)
CA5AP1GeneProductENSG00000260133 (Ensembl)
CDIPTGeneProductENSG00000103502 (Ensembl)
CDIPTOSPGeneProductENSG00000214725 (Ensembl)
CO2MetaboliteCHEBI:3283 (ChEBI)
CORO1AGeneProductENSG00000102879 (Ensembl)
DOC2AGeneProductENSG00000149927 (Ensembl)
EZRGeneProductENSG00000092820 (Ensembl)
GDPD3GeneProductENSG00000102886 (Ensembl)
HIRIP3GeneProductENSG00000149929 (Ensembl)
INO80EGeneProductENSG00000169592 (Ensembl)
KCTD13GeneProductENSG00000174943 (Ensembl)
KIF22GeneProductENSG00000079616 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MAZGeneProductENSG00000103495 (Ensembl)
MSNGeneProductENSG00000147065 (Ensembl)
MVPGeneProductENSG00000013364 (Ensembl)
PAGR1GeneProductENSG00000280789 (Ensembl)
PPP4CGeneProductENSG00000149923 (Ensembl)
PRRT2GeneProductENSG00000167371 (Ensembl)
QPRTGeneProductENSG00000103485 (Ensembl)
RN7SKP127GeneProductENSG00000222375 (Ensembl)
SEZ6L2GeneProductENSG00000174938 (Ensembl)
SLC7A5P1GeneProductENSG00000260727 (Ensembl)
SMG1P2GeneProductENSG00000205534 (Ensembl)
SPNGeneProductENSG00000197471 (Ensembl) Leukosialin also known as sialophorin or CD43
TAOK2GeneProductENSG00000149930 (Ensembl)
TBX6GeneProductENSG00000149922 (Ensembl)
TLCD3BGeneProductENSG00000149926 (Ensembl)
TMEM219GeneProductENSG00000149932 (Ensembl)
YPEL3GeneProductENSG00000090238 (Ensembl)
ZG16GeneProductENSG00000174992 (Ensembl)
diphosphate(3−) Metabolite33019 (ChEBI)
hsa-mir-3680-2GeneProductMI0019113 (miRBase Sequence)
nicotinate β-D-ribonucleotideMetabolite57502 (ChEBI)
phthalic acidMetaboliteCHEBI:14832 (ChEBI)
quinolinateMetaboliteCHEBI:29959 (ChEBI)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4949"
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