16p13.11 Copy Number Variation - CNVs Booklet

16p13.11 Copy Number Variation

Description

Copy number variations in the region 16p13.11 are risks for neuropsychiatric diseases like schizophrenia.

Genomic location GRCh37/hg19

Chr16:15511655-16293689

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Disorder Information from Orphanet

  1. ORPHA: 261236 Microdeletion syndrome
    OMIM:
    Disease description: No description available.
    World-wide prevalence: 1-9 / 100 000
    Very frequent (99–80%) phenotypic features: Delayed speech and language development, Global developmental delay, Specific learning disability, Intellectual disability, severe
  2. ORPHA: 261243 Microduplication syndrome
    OMIM:
    Disease description: No description available.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
BMERB1 bMERB domain containing 1 89927 ENSG00000166780 Q96MC5
MARF1 meiosis regulator and mRNA stability factor 1 9665 ENSG00000166783 Q9Y4F3
NDE1 nudE neurodevelopment protein 1 54820 ENSG00000072864 Q9NXR1
MYH11 myosin heavy chain 11 4629 ENSG00000133392 P35749
CEP20 centrosomal protein 20 123811 ENSG00000133393 Q96NB1
ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) 4363 ENSG00000103222 P33527
ABCC6 ATP binding cassette subfamily C member 6 368 ENSG00000091262 O95255