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1q21.1 copy number variations

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1q21.1 copy number variations (CNVs)Understanding the impact of 1q21.1 Copy Number Variant; C. Harvard et al; Orphanet Journal of Rare Diseases 2011, 6:54; are rare aberrations of human chromosome 1. [1]

38 relations: ANKRD35, Base pair, BCL9, CD160, CHD1L, Chromosomal inversion, Chromosomal translocation, Chromosome 1, Copy-number variation, Deletion (genetics), FMO5, Gene duplication, GJA5, GJA8, GPR89B, Hemojuvelin, Integrin alpha 10, LIX1L, Low copy repeats, Lysophosphatidic acid phosphatase type 6, Meiosis, Myomegalin, NBPF10, Non-allelic homologous recombination, NUDT17, PDZK1, PEX11B, Phenotype, PIAS3, POLR3C, POLR3GL, PRKAB2, RBM8A, TAR syndrome, TXNIP, ZNF364, 1q21.1 deletion syndrome, 1q21.1 duplication syndrome.

ANKRD35

Ankyrin repeat domain 35 also known as ANKRD35 is a protein which in humans is encoded by the ANKRD35 gene.

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Base pair

A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.

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BCL9

B-cell CLL/lymphoma 9 protein is a protein that in humans is encoded by the BCL9 gene.

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CD160

CD160 antigen is a protein that in humans is encoded by the CD160 gene.

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CHD1L

Chromodomain-helicase-DNA-binding protein 1-like (ALC1) is an enzyme that in humans is encoded by the CHD1L gene.

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Chromosomal inversion

An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end.

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Chromosomal translocation

In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.

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Chromosome 1

Chromosome 1 is the designation for the largest human chromosome.

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Copy-number variation

Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals in the human population.

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Deletion (genetics)

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.

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FMO5

Dimethylaniline monooxygenase 5 is an enzyme that in humans is encoded by the FMO5 gene.

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Gene duplication

Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution.

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GJA5

Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene.

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GJA8

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene.

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GPR89B

Protein GPR89 is a protein that in humans is encoded by the GPR89B gene.

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Hemojuvelin

Hemojuvelin (HJV), also known as repulsive guidance molecule C (RGMc) or hemochromatosis type 2 protein (HFE2), is a membrane-bound and soluble protein in mammals that is responsible for the iron overload condition known as juvenile hemochromatosis in humans, a severe form of hemochromatosis.

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Integrin alpha 10

Integrin alpha-10 also known as ITGA10 is a protein that in humans is encoded by the ITGA10 gene.

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LIX1L

Lix1 homolog (mouse)-like also known as LIX1L is a protein which in humans is encoded by the LIX1L gene.

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Low copy repeats

Low copy repeats (LCRs), also known as segmental duplications (SDs), are highly homologous sequence elements within the eukaryotic genome.

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Lysophosphatidic acid phosphatase type 6

Lysophosphatidic acid phosphatase type 6 is an acid phosphatase enzyme that is encoded in humans by the ACP6 gene.

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Meiosis

Meiosis (from Greek μείωσις, meiosis, which means lessening) is a specialized type of cell division that reduces the chromosome number by half, creating four haploid cells, each genetically distinct from the parent cell that gave rise to them.

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Myomegalin

Myomegalin also known as phosphodiesterase 4D-interacting protein or cardiomyopathy-associated protein 2 is a protein that in humans is encoded by the PDE4DIP gene.

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NBPF10

Neuroblastoma breakpoint family member 10 is a protein that in Homo sapiens is encoded by the NBPF10 gene.

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Non-allelic homologous recombination

Non-allelic homologous recombination (NAHR) is a form of homologous recombination that occurs between two lengths of DNA that have high sequence similarity, but are not alleles.

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NUDT17

Nudix hydrolase 17 is a protein that in humans is encoded by the NUDT17 gene.

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PDZK1

Na(+)/H(+) exchange regulatory cofactor NHE-RF3 is a protein that in humans is encoded by the PDZK1 gene.

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PEX11B

Peroxisomal membrane protein 11B is a protein that in humans is encoded by the PEX11B gene.

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Phenotype

A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).

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PIAS3

E3 SUMO-protein ligase PIAS3 is an enzyme that in humans is encoded by the PIAS3 gene.

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POLR3C

DNA-directed RNA polymerase III subunit RPC3 is an enzyme that in humans is encoded by the POLR3C gene.

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POLR3GL

Polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like also known as POLR3GL is a protein which in humans is encoded by the POLR3GL gene.

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PRKAB2

5'-AMP-activated protein kinase subunit beta-2 is an enzyme that in humans is encoded by the PRKAB2 gene.

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RBM8A

RNA-binding protein 8A is a protein that in humans is encoded by the RBM8A gene.

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TAR syndrome

TAR Syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count.

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TXNIP

Thioredoxin-interacting protein is a protein that in humans is encoded by the TXNIP gene.

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ZNF364

RING finger protein 115 is a protein that in humans is encoded by the RNF115 gene.

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1q21.1 deletion syndrome

1q21.1 deletion syndrome or 1q21.1 (recurrent) microdeletion is a rare aberration of chromosome 1.

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1q21.1 duplication syndrome

1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1.

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References

[1] https://en.wikipedia.org/wiki/1q21.1_copy_number_variations

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