chromosome breakage Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. (Human Phenotype Ontology, HP_0003220)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004028
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Genes

50 gene mutations causing the chromosome breakage phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ANXA7 annexin A7
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
BLM Bloom syndrome, RecQ helicase-like
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
COPS5 COP9 signalosome subunit 5
DCLRE1C DNA cross-link repair 1C
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCG Fanconi anemia, complementation group G
FUS FUS RNA binding protein
HMGB1 high mobility group box 1
HUS1 HUS1 checkpoint homolog (S. pombe)
LATS2 large tumor suppressor kinase 2
LIG4 ligase IV, DNA, ATP-dependent
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)
MBD1 methyl-CpG binding domain protein 1
MCM4 minichromosome maintenance complex component 4
MCM8 minichromosome maintenance complex component 8
MCM9 minichromosome maintenance complex component 9
MCPH1 microcephalin 1
MDC1 mediator of DNA-damage checkpoint 1
MET MET proto-oncogene, receptor tyrosine kinase
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MUS81 MUS81 structure-specific endonuclease subunit
MYC v-myc avian myelocytomatosis viral oncogene homolog
NBN nibrin
NHEJ1 nonhomologous end-joining factor 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
PARP1 poly (ADP-ribose) polymerase 1
PARP2 poly (ADP-ribose) polymerase 2
POLQ polymerase (DNA directed), theta
RAG1 recombination activating gene 1
RECQL RecQ helicase-like
RECQL4 RecQ protein-like 4
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
RPA1 replication protein A1, 70kDa
SIRT6 sirtuin 6
SLX1A SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae)
SLX4 SLX4 structure-specific endonuclease subunit
SMC1A structural maintenance of chromosomes 1A
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TYR tyrosinase
UIMC1 ubiquitin interaction motif containing 1
USP1 ubiquitin specific peptidase 1
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)