11p11.2 Copy Number Variation - CNVs Booklet

11p11.2 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr11:43940000-46020000

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Disorder Information from Orphanet

  1. ORPHA: 52022 Deletion syndrome
    OMIM: 601224
    Disease description: No description available.
    World-wide prevalence: <1 / 1 000 000
    Very frequent (99–80%) phenotypic features: Brachycephaly, Epicanthus, Micrognathia, Prominent nasal bridge, Underdeveloped nasal alae, Depressed nasal tip, Broad nasal tip, Global developmental delay, Decreased skull ossification, Exostoses

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
ALKBH3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase 221120 ENSG00000166199 Q96Q83
C11orf96 chromosome 11 open reading frame 96 387763 ENSG00000187479 Q7Z7L8
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) 84680 ENSG00000110455 Q96QU6
EXT2 exostosin glycosyltransferase 2 2132 ENSG00000151348 Q93063
ALX4 ALX homeobox 4 60529 ENSG00000052850 Q9H161
CD82 CD82 molecule 3732 ENSG00000085117 P27701
TSPAN18 tetraspanin 18 90139 ENSG00000157570 Q96SJ8
TP53I11 tumor protein p53 inducible protein 11 9537 ENSG00000175274 O14683
PRDM11 PR/SET domain 11 56981 ENSG00000019485 Q9NQV5
SYT13 synaptotagmin 13 57586 ENSG00000019505 Q7L8C5
CHST1 carbohydrate sulfotransferase 1 8534 ENSG00000175264 O43916
SLC35C1 solute carrier family 35 member C1 55343 ENSG00000181830 Q96A29
CRY2 cryptochrome circadian regulator 2 1408 ENSG00000121671 Q49AN0
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 9479 ENSG00000121653 Q9UQF2
FREY1 Frey regulator of sperm-oocyte fusion 1 143678 ENSG00000234776 C9JXX5
PEX16 peroxisomal biogenesis factor 16 9409 ENSG00000121680 Q9Y5Y5
LARGE2 LARGE xylosyl- and glucuronyltransferase 2 120071 ENSG00000165905 Q8N3Y3
PHF21A PHD finger protein 21A 51317 ENSG00000135365 Q96BD5