Table 1

 Genes spanning the 17p11.2 deletion

Ensembl gene IDExternal gene IDGene descriptionProtein family description
The list was expanded to contain genes beyond the deletion borders since these genes might also be affected by the deletion. The genes are listed in their chromosomal order with Ubb as the most telomeric gene. Genes identified by SAGE are depicted in bold.
ENSG00000170315.1 UBB Ubiquitin 40S ribosomal s27a
ENSG00000154050.1Unknown
ENSG00000154051.1NM_030970Unknown
ENSG00000175061.1NM_152350Ambiguous
ENSG00000181350.1Q8NAA5Unknown
ENSG00000141040.3ZNF287Zinc finger protein 287Zinc finger
ENSG00000181186.3Arginine/serine rich pre-splicing factor
ENSG00000170187.2Unknown
ENSG00000170160.1O60311Ankyrin repeat domain
ENSG00000183855.1UPF3
ENSG00000128422.4Keratin type I
ENSG00000182235.1Coactosin
ENSG00000128438.1Q9H7M0Ubiquitin carboxyl terminal hydrolase
ENSG00000108516.2TNFRSF13BTumour necrosis factor receptor superfamily member 13bTumour necrosis factor receptor superfamily member 13B transmembrane activator and CAML interactor
ENSG00000133030.3NM_015134Rho interacting protein 3TRIO and F actin binding protein
ENSG00000179598.1NM_178836Similar to CG12314 gene productAmbiguous
ENSG00000154803.2NM_144997Folliculin isoform 1Ambiguous
ENSG00000183815.1NM_032686Unknown
ENSG00000141030.1COPS3COP9 constitutive photomorphogenic homologue subunit 3COP9 homologue subunit 3
ENSG00000010302.1NT5M5′,3′-nucleotidase, mitochondrial precursor5′ 3′ deoxyribonucleotidase cytosolic type
ENSG00000141026.1NM_018019Ambiguous
ENSG00000108551.1RASD1RAS, dexamethasone-induced 1RAS
ENSG00000133027.4PEMTPhosphatidylethanolamine n-methyltransferasePhosphatidylethanolamine n methyltransferase
ENSG00000108557.4RAI1Retinoic acid induced 1 isoform 1Acid induced 1
ENSG00000183564.1SMCR5Smith-Magenis syndrome chromosome region, candidate 5Smith-Magenis syndrome chromosome region candidate 5
ENSG00000072310.2SREBF1Sterol regulatory element binding protein-1Sterol regulatory element binding 1
ENSG00000175715.3Unknown
ENSG00000182822.1Q9UF26Unknown
ENSG00000175662.3 TOM1L2 Target of myb1-like 2 Target of myb 1 src activating and signalling molecule
ENSG00000171962.3NM_031294E07 gene
ENSG00000171953.2ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2Ambiguous
ENSG00000141034.1NM_024052Ambiguous
ENSG00000108591.1DRG2Developmentally regulated GTP binding protein 2Developmentally regulated GTP binding
ENSG00000091536.3MYO15AMyosin XVAmbiguous
ENSG00000091542.1NM_017758Alanine rich region/type I antifreeze protein
ENSG00000131899.2LLGL1Lethal giant larvae homologue 1Lethal 2 giant larvae
ENSG00000177731.1FLIIFlightless-I protein homologueActin
ENSG00000177427.3SMCR7Smith-Magenis syndrome chromosome region, candidate 7Ambiguous
ENSG00000177302.1TOP3ADNA topoisomerase III alphaDNA topoisomerase III
ENSG00000176994.1SMCR8Smith-Magenis syndrome chromosome region, candidate 8Ambiguous
ENSG00000176974.2SHMT1Serine hydroxymethyltransferase, cytosolicSerine hydroxymethyltransferase
ENSG00000170292.1Unknown
ENSG00000183027.2Ubiquitin carboxyl terminal hydrolase
ENSG00000131885.3Keratin type I
ENSG00000171916.3Galectin
ENSG00000167494.1NOS2BNitric oxide synthase IIBNitric oxide synthase
ENSG00000178870.1NM_024974Ambiguous
ENSG00000170299.2Ankyrin repeat domain
ENSG00000160516.1RPS2840S ribosomal protein S28Unknown
ENSG00000154874.1NM_182568Unknown
ENSG00000174977.2Polyadenylate binding interacting 1
ENSG00000174969.2ZNF26Zinc finger protein 26Zinc finger
ENSG00000174973.2Unknown
ENSG00000186060.1Tripartite motif 16 oestrogen responsive b box
ENSG00000171931.1C17orf1ACharcot-Marie-Tooth duplicated region transcript 1Ambiguous
ENSG00000171928.1FAM18BFAM18S
ENSG00000183105.1Unknown
ENSG00000141127.1 PRPSAP2 Phosphoribosyl pyrophosphate synthetase associated protein 2 Phosphoribosyl pyrophosphate synthetase associated
ENSG00000179727.2Q8N2W8Ambiguous
ENSG00000154025.2NM_152351Sodium/glucose cotransporter
ENSG00000154016.2GRAPGRB2-related adaptor proteinGrowth factor receptor bound 2 adapter/SH2/SH3 adapter
ENSG00000072134.3EPN2Epsin 2 isoform BAmbiguous
ENSG00000108641.1NM_015681B9 proteinUnknown
ENSG00000166484.4MAPK7Mitogen-activated protein kinase 7Mitogen activated kinase
ENSG00000166482.3 MFAP4 Microfibril associated glycoprotein 4 precursor Precursor
ENSG00000128482.2ZNF179Zinc finger protein 179Zinc finger 179 brain finger
ENSG00000184001.1Q9BSW540S ribosomal S2
ENSG00000142494.1NM_018242Ambiguous
ENSG00000072210.3ALDH3A2Fatty aldehyde dehydrogenaseAldehyde dehydrogenase dimeric NADP preferring
ENSG00000180638.3NM_152908Ambiguous
ENSG00000108602.4ALDH3A1Aldehyde dehydrogenase, dimeric nadp-preferringAldehyde dehydrogenase dimeric NDAP preferring
ENSG00000083290.4ULK2UNC-51-like kinase 2Serine/threonine kinase ULK1
ENSG00000108599.3AKAP10A kinase anchor protein 10, mitochondrial precursorA kinase anchor 10 mitochondrial
ENSG00000128487.4NM_152904Sperm antigen HCMOGT-1Unknown
ENSG00000154888.1Q9H3A7Ambiguous
ENSG00000154895.4Q8IYA2Unknown
ENSG00000154898.2Ankyrin repeat domain
ENSG00000179302.2UPF3
ENSG00000170298.3Galectin
ENSG00000175417.2Keratin type I
ENSG00000175415.1NM_032249Ambiguous
ENSG00000182906.2Ubiquitin carboxyterminal hydrolase
ENSG00000124422.1 USP22 Ubiquitin carboxyterminal hydrolase 22 Ubiquitin carboxyterminal hydrolase 22