Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:16p11.2 Deletion Syndrome
go back to main search page
Accession:DOID:9006640 term browser browse the term
Synonyms:exact_synonym: chromosome 16p11.2 deletion syndrome, 593-kb
 related_synonym: AUTS14A;   autism, susceptibility to, 14A
 primary_id: MESH:C579850
 alt_id: OMIM:611913
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
16p11.2 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Aldoart2 aldolase 1 A retrogene 2 JBrowse link 6 76,349,362 76,351,052 RGD:8554872
G Asphd1 aspartate beta-hydroxylase domain containing 1 JBrowse link 1 198,379,060 198,382,982 RGD:8554872
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 JBrowse link 1 197,855,912 197,875,038 RGD:8554872
G Atxn2l ataxin 2-like JBrowse link 1 197,908,087 197,920,400 RGD:8554872
G Cd19 CD19 molecule JBrowse link 1 197,815,422 197,822,123 RGD:8554872
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase JBrowse link 1 198,409,186 198,413,497 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:8554872
G Doc2a double C2 domain alpha JBrowse link 1 198,282,828 198,288,611 RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Hirip3 HIRA interacting protein 3 JBrowse link 1 198,298,138 198,301,164 RGD:8554872
G Ino80e INO80 complex subunit E JBrowse link 1 198,287,489 198,298,076 RGD:8554872
G Kctd13 potassium channel tetramerization domain containing 13 JBrowse link 1 198,360,627 198,378,935 RGD:8554872
G Kif22 kinesin family member 22 JBrowse link 1 198,461,406 198,476,430 RGD:8554872
G Lat linker for activation of T cells JBrowse link 1 197,765,644 197,770,669 RGD:8554872
G LOC308990 hypothetical protein LOC308990 JBrowse link 1 198,528,569 198,531,585 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Maz MYC associated zinc finger protein JBrowse link 1 198,456,699 198,460,126 RGD:8554872
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Nfatc2ip nuclear factor of activated T-cells 2 interacting protein JBrowse link 1 197,785,966 197,800,943 RGD:8554872
G Pagr1 Paxip1-associated glutamate-rich protein 1 JBrowse link 1 198,448,790 198,451,078 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Qprt quinolinate phosphoribosyltransferase JBrowse link 1 198,544,262 198,559,556 RGD:8554872
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 JBrowse link 1 197,839,583 197,855,953 RGD:8554872
G RGD1563217 similar to RIKEN cDNA 4930451I11 JBrowse link 1 198,260,711 198,268,056 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Sh2b1 SH2B adaptor protein 1 JBrowse link 1 197,878,839 197,888,223 RGD:8554872
G Spn sialophorin JBrowse link 1 198,572,999 198,585,664 RGD:8554872
G Spns1 sphingolipid transporter 1 JBrowse link 1 197,771,196 197,778,506 RGD:8554872
G Taok2 TAO kinase 2 JBrowse link 1 198,301,789 198,354,601 RGD:8554872
G Tbx6 T-box transcription factor 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Tlcd3b TLC domain containing 3B JBrowse link 1 198,252,208 198,265,840 RGD:8554872
G Tmem219 transmembrane protein 219 JBrowse link 1 198,322,276 198,360,552 RGD:8554872
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
G Zg16 zymogen granule protein 16 JBrowse link 1 198,483,800 198,486,157 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      chromosomal deletion syndrome 752
        16p11.2 Deletion Syndrome 37
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                pervasive developmental disorder 1733
                  autism spectrum disorder 1727
                    autistic disorder 1569
                      16p11.2 Deletion Syndrome 37
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.