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. 2016 Dec 1;10(12):GD01–GD03. doi: 10.7860/JCDR/2016/23828.9075

[Table/Fig-7]:

List of genes at the translocation breakpoints reported in this study [20].

Gene Band Role Phenotype
ANKH 5p15.1 Multipass transmembrane Protein Craniometaphyseal dysplasia - AD
PAX4 7q32 Transcription Factors
  • Critical role in fetal development and cancer growth

  • Differentiation of insulin producing beta cells

STAR 8p11.2 Acute regulation of steroid hormone synthesis Congenital adrenal hyperplasia
ERlIN2 8p11.2 SPFH domain-containing family of lipid raft-associated proteins Spastic paraplegia-18
ADAM2 8p11.2 Cell-cell interaction & cell-cell matrix interaction
  • Fertilization, muscle development and neurogenesis

  • Sperm-egg interaction

CBL 11q23.3 Proto-oncogene Noonan syndrome-like disorder
APOC 3 11q23.3 Apolipoprotein C III Hypertriglyceridemia due to increased expression
ETS1 11q23.3 ETS family of transcription factors (activator/repressor)
  • Stem cell development

  • Cell senescence and death

  • Tumorigenesis

HMBS 11q23.3 Hydroxymethlylibane super family Acute intermittent porphyria – AD
PVRL1 11q23.3 Adhesion protein Cleft lip and palate/ ectodermal dysplasia 1 syndrome
TMPRSS4 11q23.3 Serine protease family Multiple human diseases and disorders due to malfunction
C1QTNF5 11q23.3 Cell adhesion Late onset retinal degeneration
DPAGT1 11q23.3 Catalytic enzyme Congenital disorder of glycosylation type Ij
CEP164 11q23.3 Centrosomal protein
  • Microtubule organization

  • DNA damage response

  • Chromosome segregation

ARCN1 11q23.3 Intra-cellular protein Multiple disease-associated chromosome translocations