abnormal chromosome stability Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity (Mammalian Phenotype Ontology, MP_0010094)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010094
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Genes

149 gene mutations causing the abnormal chromosome stability phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ADAR adenosine deaminase, RNA-specific
AICDA activation-induced cytidine deaminase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
AMOTL1 angiomotin like 1
AMPD3 adenosine monophosphate deaminase 3
ANXA7 annexin A7
ASXL1 additional sex combs like transcriptional regulator 1
ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1
ATAD5 ATPase family, AAA domain containing 5
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
AURKA aurora kinase A
BBX bobby sox homolog (Drosophila)
BLM Bloom syndrome, RecQ helicase-like
BRCA2 breast cancer 2, early onset
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C2ORF54 chromosome 2 open reading frame 54
CCDC137 coiled-coil domain containing 137
CDCA8 cell division cycle associated 8
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CENPE centromere protein E, 312kDa
CENPJ centromere protein J
CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
COPS5 COP9 signalosome subunit 5
CTC1 CTS telomere maintenance complex component 1
CTCF CCCTC-binding factor (zinc finger protein)
CUL4A cullin 4A
CYP20A1 cytochrome P450, family 20, subfamily A, polypeptide 1
DCLRE1C DNA cross-link repair 1C
DHRS2 dehydrogenase/reductase (SDR family) member 2
DLG4 discs, large homolog 4 (Drosophila)
DNA2 DNA replication helicase/nuclease 2
DSCC1 DNA replication and sister chromatid cohesion 1
DUSP4 dual specificity phosphatase 4
DYNLL1 dynein, light chain, LC8-type 1
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EPS15 epidermal growth factor receptor pathway substrate 15
ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXO1 exonuclease 1
FAHD2B fumarylacetoacetate hydrolase domain containing 2B
FAM104A family with sequence similarity 104, member A
FAM107B family with sequence similarity 107, member B
FAM134C family with sequence similarity 134, member C
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCG Fanconi anemia, complementation group G
FOXN1 forkhead box N1
FUS FUS RNA binding protein
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
H2AFX H2A histone family, member X
HDAC1 histone deacetylase 1
HMGB1 high mobility group box 1
HUS1 HUS1 checkpoint homolog (S. pombe)
IRF1 interferon regulatory factor 1
JMJD1C jumonji domain containing 1C
KAZN kazrin, periplakin interacting protein
KIF21B kinesin family member 21B
KLK9 kallikrein-related peptidase 9
LATS2 large tumor suppressor kinase 2
LIG1 ligase I, DNA, ATP-dependent
LIG4 ligase IV, DNA, ATP-dependent
LSM10 LSM10, U7 small nuclear RNA associated
LSM11 LSM11, U7 small nuclear RNA associated
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAP2K2 mitogen-activated protein kinase kinase 2
MARCH5 membrane-associated ring finger (C3HC4) 5
MBD1 methyl-CpG binding domain protein 1
MCM2 minichromosome maintenance complex component 2
MCM3 minichromosome maintenance complex component 3
MCM4 minichromosome maintenance complex component 4
MCM6 minichromosome maintenance complex component 6
MCM7 minichromosome maintenance complex component 7
MCM8 minichromosome maintenance complex component 8
MCM9 minichromosome maintenance complex component 9
MCPH1 microcephalin 1
MDC1 mediator of DNA-damage checkpoint 1
MED22 mediator complex subunit 22
MET MET proto-oncogene, receptor tyrosine kinase
MIER1 mesoderm induction early response 1, transcriptional regulator
MIR155 microRNA 155
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MUS81 MUS81 structure-specific endonuclease subunit
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYSM1 Myb-like, SWIRM and MPN domains 1
NABP2 nucleic acid binding protein 2
NBEAL2 neurobeachin-like 2
NBN nibrin
NCAPH non-SMC condensin I complex, subunit H
NEK7 NIMA-related kinase 7
NHEJ1 nonhomologous end-joining factor 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
PARP1 poly (ADP-ribose) polymerase 1
PARP2 poly (ADP-ribose) polymerase 2
PDS5B PDS5 cohesin associated factor B
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1
PLIN2 perilipin 2
PLXNB2 plexin B2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPO pyridoxamine 5'-phosphate oxidase
POLB polymerase (DNA directed), beta
POLQ polymerase (DNA directed), theta
POLR3F polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa
PRMT1 protein arginine methyltransferase 1
PRMT7 protein arginine methyltransferase 7
RAD18 RAD18 E3 ubiquitin protein ligase
RAG1 recombination activating gene 1
RCOR2 REST corepressor 2
RECQL RecQ helicase-like
RECQL4 RecQ protein-like 4
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RGCC regulator of cell cycle
RNF10 ring finger protein 10
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
RPA1 replication protein A1, 70kDa
RPGRIP1L RPGRIP1-like
SCIMP SLP adaptor and CSK interacting membrane protein
SETD5 SET domain containing 5
SGOL1 shugoshin-like 1 (S. pombe)
SIRT6 sirtuin 6
SLX1A SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae)
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
TBC1D10A TBC1 domain family, member 10A
TERC telomerase RNA component
TERF2IP telomeric repeat binding factor 2, interacting protein
TERT telomerase reverse transcriptase
THEMIS2 thymocyte selection associated family member 2
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TP63 tumor protein p63
TREX1 three prime repair exonuclease 1
TRIM66 tripartite motif containing 66
TYR tyrosinase
UIMC1 ubiquitin interaction motif containing 1
USP1 ubiquitin specific peptidase 1
USP44 ubiquitin specific peptidase 44
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
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)
ZC3HC1 zinc finger, C3HC-type containing 1
ZNF367 zinc finger protein 367