MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: abnormal class switch recombination
Accession: MP:0004816
browse the term
Definition: anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions
Synonyms: exact_synonym: abnormal CSR; abnormal isotype switching
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Aicda
activation-induced cytidine deaminase
IAGP
MGI
PMID:11007474 PMID:12810694 PMID:18455451 PMID:18838546 PMID:19196992 PMID:20368578 PMID:33098766 More...
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Aplf
aprataxin and PNKP like factor
IAGP
MGI
PMID:21211721
NCBI chr 6:87,605,407...87,649,244
Ensembl chr 6:87,605,406...87,649,175
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Arid3a
AT-rich interaction domain 3A
IAGP
MGI
PMID:21199920
NCBI chr10:79,762,877...79,790,852
Ensembl chr10:79,762,877...79,790,852
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Atm
ataxia telangiectasia mutated
IAGP
MGI
PMID:19450527 PMID:22869596 PMID:27798842
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Bach2
BTB and CNC homology, basic leucine zipper transcription factor 2
IAGP
MGI
PMID:15152264
NCBI chr 4:32,238,413...32,586,109
Ensembl chr 4:32,238,804...32,586,108
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Batf
basic leucine zipper transcription factor, ATF-like
IAGP
MGI
PMID:20421391
NCBI chr12:85,733,494...85,755,861
Ensembl chr12:85,733,443...85,755,861
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Bcl3
B cell leukemia/lymphoma 3
IAGP
MGI
PMID:9133427
NCBI chr 7:19,542,387...19,556,691
Ensembl chr 7:19,542,387...19,556,695
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Blm
Bloom syndrome, RecQ like helicase
IAGP
MGI
PMID:23254285
NCBI chr 7:80,104,839...80,184,896
Ensembl chr 7:80,104,481...80,184,867
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Bod1l
biorientation of chromosomes in cell division 1-like
IAGP
MGI
PMID:35439434
NCBI chr 5:41,944,881...42,001,695
Ensembl chr 5:41,944,881...42,001,658
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Brca1
breast cancer 1, early onset
IAGP
MGI
PMID:33857404
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
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Ccr7
C-C motif chemokine receptor 7
IAGP
MGI
PMID:10520991
NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
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Cd19
CD19 antigen
IAGP
MGI
PMID:11420047 PMID:17000121 PMID:18178811 PMID:18490492 PMID:19270713 PMID:21339646 PMID:22547703 PMID:23023393 PMID:23254285 PMID:24242374 PMID:32547538 PMID:32609329 More...
NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
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Cd22
CD22 antigen
IAGP
MGI
PMID:17420268
NCBI chr 7:30,564,829...30,579,767
Ensembl chr 7:30,564,827...30,579,767
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Cd28
CD28 antigen
IAGP
MGI
PMID:7688139 PMID:12752681 PMID:15024044
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cd37
CD37 antigen
IAGP
MGI
PMID:10891477
NCBI chr 7:44,883,056...44,888,701
Ensembl chr 7:44,883,056...44,888,539
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Cd3e
CD3 antigen, epsilon polypeptide
IAGP
MGI
PMID:22761313
NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925
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Cd40
CD40 antigen
IAGP
MGI
PMID:16973390
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
IAGP
MGI
PMID:7882172 PMID:7964465 PMID:22761313
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd79a
CD79A antigen (immunoglobulin-associated alpha)
IAGP
MGI
PMID:17420268 PMID:21464221 PMID:22213803 PMID:22761313 PMID:23343763
NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622
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Clptm1l
CLPTM1-like
IAGP
MGI
PMID:30042348
NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724
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Clta
clathrin light chain A
IAGP
MGI
PMID:27540116
NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846
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Commd10
COMM domain containing 10
IAGP
MGI
PMID:18676810
NCBI chr18:47,091,917...47,242,435
Ensembl chr18:47,091,883...47,367,351
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Cr2
complement receptor 2
IAGP
MGI
PMID:19706534
NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024
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Ctnnbl1
catenin, beta like 1
IAGP
MGI
PMID:23343763
NCBI chr 2:157,579,321...157,733,823
Ensembl chr 2:157,579,321...157,733,534
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Cyld
CYLD lysine 63 deubiquitinase
IAGP
MGI
PMID:17923499
NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573
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Cyren
cell cycle regulator of NHEJ
IAGP
MGI
PMID:30017584 PMID:31795137
NCBI chr 6:34,848,706...34,855,024
Ensembl chr 6:34,848,706...34,854,995
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Dbr1
debranching RNA lariats 1
IAGP
MGI
PMID:25957684
NCBI chr 9:99,457,839...99,467,060
Ensembl chr 9:99,457,852...99,466,554
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Dclre1c
DNA cross-link repair 1C
IAGP
MGI
PMID:19692705
NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
IAGP
MGI
PMID:33526923
NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206
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Dock2
dedicator of cyto-kinesis 2
IAGP
MGI
PMID:22761313
NCBI chr11:34,176,815...34,674,732
Ensembl chr11:34,176,815...34,674,719
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Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
IAGP
MGI
PMID:15280420
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
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Ercc6l2
excision repair cross-complementing rodent repair deficiency, complementation group 6 like 2
IAGP
MGI
PMID:32355287
NCBI chr13:63,958,793...64,048,116
Ensembl chr13:63,963,054...64,048,116
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Esr1
estrogen receptor 1 (alpha)
IAGP
MGI
PMID:12603601
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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Esr2
estrogen receptor 2 (beta)
IAGP
MGI
PMID:12603601
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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Exo1
exonuclease 1
IAGP
MGI
PMID:23754438
NCBI chr 1:175,708,334...175,738,962
Ensembl chr 1:175,708,147...175,741,055
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Fam72a
family with sequence similarity 72, member A
IAGP
MGI
PMID:34819670
NCBI chr 1:131,454,336...131,466,773
Ensembl chr 1:131,455,641...131,467,610
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Fli1
Friend leukemia integration 1
IAGP
MGI
PMID:18641300
NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:18490492 PMID:21339646 PMID:21613984 PMID:22547703 PMID:22869596 PMID:22897848 PMID:24242374 PMID:33526923 PMID:35439434 More...
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336
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H2ax
H2A.X variant histone
IAGP
MGI
PMID:12810694 PMID:12914700 PMID:23254285
NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374
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Hoxc4
homeobox C4
IAGP
MGI
PMID:19363484
NCBI chr15:102,926,531...102,945,281
Ensembl chr15:102,927,366...102,945,278
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Hspa13
heat shock protein 70 family, member 13
IAGP
MGI
PMID:32547538
NCBI chr16:75,552,078...75,564,575
Ensembl chr16:75,542,319...75,563,992
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Huwe1
HECT, UBA and WWE domain containing 1
IAGP
MGI
PMID:22213803
NCBI chr X:150,583,779...150,718,413
Ensembl chr X:150,583,803...150,718,413
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Icos
inducible T cell co-stimulator
IAGP
MGI
PMID:11343123 PMID:19915142
NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479
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Icosl
icos ligand
IAGP
MGI
PMID:12833154
NCBI chr10:77,904,921...77,915,359
Ensembl chr10:77,905,136...77,919,747
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Ifngr2
interferon gamma receptor 2
IAGP
MGI
PMID:9653170
NCBI chr16:91,343,947...91,360,895
Ensembl chr16:91,343,960...91,362,511
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Igh
immunoglobulin heavy chain complex
IAGP
MGI
PMID:17420268 PMID:17713479 PMID:19450527 PMID:20368578 PMID:20511552 PMID:22250990 PMID:24019479 PMID:29907762 More...
NCBI chr12:113,222,388...115,973,574
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Igh-8
immunoglobulin heavy chain 8 (heavy chain of IgG3)
IAGP
MGI
PMID:16507599 PMID:18077389 PMID:21378751
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Igha
immunoglobulin heavy constant alpha
IAGP
MGI
PMID:8567970
NCBI chr12:113,219,824...113,223,856
Ensembl chr12:113,218,450...113,223,856
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Ighg1
immunoglobulin heavy constant gamma 1 (G1m marker)
IAGP
MGI
PMID:7892607 PMID:8438159 PMID:16767092 PMID:21339646 PMID:22897848
NCBI chr12:113,290,161...113,294,143
Ensembl chr12:113,288,860...113,294,143
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Ighm
immunoglobulin heavy constant mu
IAGP
MGI
PMID:11148220 PMID:21378751
NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350
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Igk
immunoglobulin kappa chain complex
IAGP
MGI
PMID:17713479 PMID:19450527
NCBI chr 6:67,532,620...70,703,738
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Il21
interleukin 21
IAGP
MGI
PMID:16979605
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il2rg
interleukin 2 receptor, gamma chain
IAGP
MGI
PMID:7831294
NCBI chr X:100,307,991...100,311,861
Ensembl chr X:100,307,984...100,311,861
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Irf4
interferon regulatory factor 4
IAGP
MGI
PMID:16767092 PMID:21613984 PMID:22761313
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Kmt5b
lysine methyltransferase 5B
IAGP
MGI
PMID:18676810
NCBI chr19:3,816,436...3,868,303
Ensembl chr19:3,817,421...3,868,303
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Kmt5c
lysine methyltransferase 5C
IAGP
MGI
PMID:18676810
NCBI chr 7:4,743,091...4,750,513
Ensembl chr 7:4,743,114...4,750,513
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Lig4
ligase IV, DNA, ATP-dependent
IAGP
MGI
PMID:17713479 PMID:20133803
NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686
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Lta
lymphotoxin A
IAGP
MGI
PMID:12446781 PMID:16705172
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Ltb
lymphotoxin B
IAGP
MGI
PMID:12446781
NCBI chr17:35,413,483...35,415,281
Ensembl chr17:35,413,415...35,415,296
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Lyn
LYN proto-oncogene, Src family tyrosine kinase
IAGP
MGI
PMID:7584145
NCBI chr 4:3,676,865...3,791,613
Ensembl chr 4:3,678,115...3,813,122
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Map3k14
mitogen-activated protein kinase kinase kinase 14
IAGP
MGI
PMID:22761313 PMID:23023393
NCBI chr11:103,110,590...103,158,227
Ensembl chr11:103,110,588...103,158,298
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Mdc1
mediator of DNA damage checkpoint 1
IAGP
MGI
PMID:16427009
NCBI chr17:36,152,390...36,170,562
Ensembl chr17:36,152,407...36,170,562
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Mir155
microRNA 155
IAGP
MGI
PMID:17463290 PMID:18455451
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mre11a
MRE11A homolog A, double strand break repair nuclease
IAGP
MGI
PMID:21826105
NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419
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Msh2
mutS homolog 2
IAGP
MGI
PMID:10369687 PMID:10430621 PMID:14568978 PMID:34819670
NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141
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Nfatc1
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1
IAGP
MGI
PMID:21464221
NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286
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Nfil3
nuclear factor, interleukin 3, regulated
IAGP
MGI
PMID:20080759
NCBI chr13:53,121,245...53,136,914
Ensembl chr13:53,121,245...53,135,109
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Nfkb1
nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105
IAGP
MGI
PMID:8598461 PMID:16973390
NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308
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Nfkb2
nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100
IAGP
MGI
PMID:9432973 PMID:18025196
NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824
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Nfkbid
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, delta
IAGP
MGI
PMID:22761313
NCBI chr 7:30,121,156...30,128,173
Ensembl chr 7:30,121,157...30,128,171
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Nhej1
non-homologous end joining factor 1
IAGP
MGI
PMID:18775323
NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844
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Niban3
niban apoptosis regulator 3
IAGP
MGI
PMID:31412363
NCBI chr 8:72,049,000...72,061,599
Ensembl chr 8:72,050,292...72,060,580
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Pax5
paired box 5
IAGP
MGI
PMID:11420047
NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487
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Paxx
non-homologous end joining factor
IAGP
MGI
PMID:27798842
NCBI chr 2:25,345,132...25,352,666
Ensembl chr 2:25,345,153...25,351,106
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Pcna
proliferating cell nuclear antigen
IAGP
MGI
PMID:18854411
NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234
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Pdap1
PDGFA associated protein 1
IAGP
MGI
PMID:32609329
NCBI chr 5:145,065,580...145,076,835
Ensembl chr 5:145,065,579...145,077,048
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
IAGP
MGI
PMID:18178811
NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
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Pms2
PMS1 homolog2, mismatch repair system component
IAGP
MGI
PMID:20624957
NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786 Ensembl chr 5:143,846,782...143,870,786
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Prkar1a
protein kinase, cAMP dependent regulatory, type I, alpha
IAGP
MGI
PMID:19234474
NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482
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Prkdc
protein kinase, DNA activated, catalytic polypeptide
IAGP
MGI
PMID:19450527 PMID:22761313
NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099
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Pten
phosphatase and tensin homolog
IAGP
MGI
PMID:17000121 PMID:18178811
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptgs2
prostaglandin-endoperoxide synthase 2
IAGP
MGI
PMID:17114452
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Rag1
recombination activating 1
IAGP
MGI
PMID:22761313
NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846
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Rag2
recombination activating gene 2
IAGP
MGI
PMID:19587764
NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874
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Rev3l
REV3 like, DNA directed polymerase zeta catalytic subunit
IAGP
MGI
PMID:19204108 PMID:22547703
NCBI chr10:39,607,557...39,751,207
Ensembl chr10:39,608,114...39,751,207
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Rif1
replication timing regulatory factor 1
IAGP
MGI
PMID:23333305
NCBI chr 2:51,962,725...52,016,781
Ensembl chr 2:51,962,844...52,012,395
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Rnf168
ring finger protein 168
IAGP
MGI
PMID:21552324
NCBI chr16:32,096,279...32,120,260
Ensembl chr16:32,096,277...32,120,252
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Rnf8
ring finger protein 8
IAGP
MGI
PMID:20385750
NCBI chr17:29,833,763...29,860,638
Ensembl chr17:29,833,764...29,863,965
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Rragc
Ras-related GTP binding C
IAGP
MGI
PMID:34260908
NCBI chr 4:123,811,226...123,830,790
Ensembl chr 4:123,811,239...123,830,790
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Ruvbl2
RuvB-like AAA ATPase 2
IAGP
MGI
PMID:22761313
NCBI chr 7:45,071,320...45,084,817
Ensembl chr 7:45,071,184...45,087,520
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Sesn1
sestrin 1
IAGP
MGI
PMID:28114291
NCBI chr10:41,686,570...41,784,432
Ensembl chr10:41,685,931...41,784,420
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Shld1
shieldin complex subunit 1
IAGP
MGI
PMID:33857404
NCBI chr 2:132,528,871...132,592,975
Ensembl chr 2:132,528,851...132,592,975
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Slc3a2
solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2
IAGP
MGI
PMID:19270713
NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733
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Smad7
SMAD family member 7
IAGP
MGI
PMID:16709837
NCBI chr18:75,500,436...75,529,006
Ensembl chr18:75,500,600...75,529,006
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Sppl2a
signal peptide peptidase like 2A
IAGP
MGI
PMID:23267013
NCBI chr 2:126,732,311...126,775,706
Ensembl chr 2:126,732,311...126,775,155
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Stat6
signal transducer and activator of transcription 6
IAGP
MGI
PMID:8602264
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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Swap70
SWA-70 protein
IAGP
MGI
PMID:11500831
NCBI chr 7:109,820,890...109,882,720
Ensembl chr 7:109,820,918...109,882,713
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Tbk1
TANK-binding kinase 1
IAGP
MGI
PMID:23023393
NCBI chr10:121,382,360...121,422,699
Ensembl chr10:121,382,360...121,422,692
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Tnf
tumor necrosis factor
IAGP
MGI
PMID:12446781
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf13b
tumor necrosis factor receptor superfamily, member 13b
IAGP
MGI
PMID:15630136 PMID:16973390
NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198
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Tnfrsf13c
tumor necrosis factor receptor superfamily, member 13c
IAGP
MGI
PMID:16973390
NCBI chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570
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Tnfrsf9
tumor necrosis factor receptor superfamily, member 9
IAGP
MGI
PMID:12752681
NCBI chr 4:151,004,612...151,030,561
Ensembl chr 4:150,999,019...151,030,559
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Tnfsf13
tumor necrosis factor (ligand) superfamily, member 13
IAGP
MGI
PMID:14988498
NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610
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Trp53
transformation related protein 53
IAGP
MGI
PMID:17713479 PMID:22213803
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Trp53bp1
transformation related protein 53 binding protein 1
IAGP
MGI
PMID:20368578 PMID:23254285 PMID:26774285 PMID:33857404
NCBI chr 2:121,025,316...121,126,830
Ensembl chr 2:121,023,762...121,101,888
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Ung
uracil DNA glycosylase
IAGP
MGI
PMID:12401169 PMID:31795137
NCBI chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384
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Vav2
vav 2 oncogene
IAGP
MGI
PMID:11376342
NCBI chr 2:27,152,116...27,317,620
Ensembl chr 2:27,152,116...27,317,045
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Xrcc4
X-ray repair complementing defective repair in Chinese hamster cells 4
IAGP
MGI
PMID:17713479 PMID:19587764
NCBI chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727
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Xrcc5
X-ray repair complementing defective repair in Chinese hamster cells 5
IAGP
MGI
PMID:12810694
NCBI chr 1:72,346,576...72,434,112
Ensembl chr 1:72,346,586...72,434,111
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Zap70
zeta-chain (TCR) associated protein kinase
IAGP
MGI
PMID:22761313
NCBI chr 1:36,800,912...36,821,899
Ensembl chr 1:36,800,879...36,821,899
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Zc3h12a
zinc finger CCCH type containing 12A
IAGP
MGI
PMID:19322177
NCBI chr 4:125,012,207...125,021,674
Ensembl chr 4:125,012,216...125,021,633
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Zeb1
zinc finger E-box binding homeobox 1
IAGP
MGI
PMID:22761313
NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467
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