XRCC4

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)5.45344037
2axon ensheathment in central nervous system (GO:0032291)5.45344037
3CENP-A containing nucleosome assembly (GO:0034080)5.16029362
4proteasome assembly (GO:0043248)5.15630103
5chromatin remodeling at centromere (GO:0031055)5.14222533
6mitotic metaphase plate congression (GO:0007080)4.78264776
7DNA double-strand break processing (GO:0000729)4.51826539
8histone exchange (GO:0043486)4.36750645
9metaphase plate congression (GO:0051310)4.36017778
10negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.34879123
11regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.31019289
12long-chain fatty acid biosynthetic process (GO:0042759)4.29924727
13presynaptic membrane assembly (GO:0097105)4.28583019
14positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.22696452
15mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.22198324
16anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.19607775
17kinetochore organization (GO:0051383)4.09282858
18establishment of protein localization to mitochondrial membrane (GO:0090151)4.03609717
19protein localization to kinetochore (GO:0034501)3.99714478
20regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.95929241
21cullin deneddylation (GO:0010388)3.93672408
22neuron cell-cell adhesion (GO:0007158)3.93168869
23presynaptic membrane organization (GO:0097090)3.91898914
24negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.90938922
25negative regulation of ligase activity (GO:0051352)3.90938922
26telomere maintenance via semi-conservative replication (GO:0032201)3.84696671
27DNA replication-independent nucleosome organization (GO:0034724)3.82881703
28DNA replication-independent nucleosome assembly (GO:0006336)3.82881703
29histone H2B ubiquitination (GO:0033523)3.79029370
30establishment of chromosome localization (GO:0051303)3.76778011
31kinetochore assembly (GO:0051382)3.76679059
32DNA catabolic process, exonucleolytic (GO:0000738)3.71227392
33meiotic chromosome segregation (GO:0045132)3.70413491
34exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.70337524
35nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.68376523
36protein deneddylation (GO:0000338)3.68277328
37DNA strand elongation involved in DNA replication (GO:0006271)3.68029718
38limb bud formation (GO:0060174)3.67519054
39* establishment of integrated proviral latency (GO:0075713)3.66541950
40regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.66304254
41regulation of mitotic spindle checkpoint (GO:1903504)3.66304254
42chaperone-mediated protein transport (GO:0072321)3.65445916
43energy coupled proton transport, down electrochemical gradient (GO:0015985)3.63699274
44ATP synthesis coupled proton transport (GO:0015986)3.63699274
45positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.62064350
46replication fork processing (GO:0031297)3.57742224
47DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.56697845
48keratinocyte development (GO:0003334)3.56441099
49signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.54542803
50signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.54542803
51signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.54542803
52ribosome assembly (GO:0042255)3.54318574
53DNA strand elongation (GO:0022616)3.52265078
54intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.51618532
55signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.51618532
56mitotic recombination (GO:0006312)3.50989019
57mitotic sister chromatid segregation (GO:0000070)3.50219026
58negative regulation of neurotransmitter transport (GO:0051589)3.49604892
59righting reflex (GO:0060013)3.49396164
60spindle checkpoint (GO:0031577)3.49127371
61protein localization to chromosome, centromeric region (GO:0071459)3.47109017
62* positive regulation of ligase activity (GO:0051351)3.45490469
63regulation of cellular amino acid metabolic process (GO:0006521)3.43828531
64negative regulation of synaptic transmission, GABAergic (GO:0032229)3.43340124
65synapsis (GO:0007129)3.40826973
66signal transduction involved in DNA damage checkpoint (GO:0072422)3.40134436
67signal transduction involved in DNA integrity checkpoint (GO:0072401)3.40134436
68telomere maintenance via recombination (GO:0000722)3.38462133
69DNA replication checkpoint (GO:0000076)3.38000012
70sister chromatid segregation (GO:0000819)3.37593675
71signal transduction involved in cell cycle checkpoint (GO:0072395)3.37314418
72* DNA ligation (GO:0006266)3.36610998
73startle response (GO:0001964)3.36398379
74mitotic G2/M transition checkpoint (GO:0044818)3.34554655
75mitotic spindle checkpoint (GO:0071174)3.30241088
76negative regulation of DNA-dependent DNA replication (GO:2000104)3.29731802
77protein neddylation (GO:0045116)3.27130524
78regulation of ubiquitin-protein transferase activity (GO:0051438)3.26286409
79regulation of timing of cell differentiation (GO:0048505)3.25680551
80negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.24502338
81negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.24502338
82negative regulation of mitotic sister chromatid segregation (GO:0033048)3.24502338
83negative regulation of mitotic sister chromatid separation (GO:2000816)3.24502338
84negative regulation of sister chromatid segregation (GO:0033046)3.24502338
85maturation of 5.8S rRNA (GO:0000460)3.22283505
86regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.21577963
87regulation of mitotic metaphase/anaphase transition (GO:0030071)3.21577963
88negative regulation of chromosome segregation (GO:0051985)3.20393618
89G1/S transition of mitotic cell cycle (GO:0000082)3.20385733
90cell cycle G1/S phase transition (GO:0044843)3.20385733
91nucleotide-excision repair, DNA gap filling (GO:0006297)3.19090585
92negative regulation of DNA recombination (GO:0045910)3.18799706
93regulation of chromosome segregation (GO:0051983)3.18623606
94organelle disassembly (GO:1903008)3.15855253
95transcription elongation from RNA polymerase I promoter (GO:0006362)3.14261658
96* regulation of ligase activity (GO:0051340)3.13564356
97histone mRNA metabolic process (GO:0008334)3.13185048
98telomere maintenance via telomere lengthening (GO:0010833)3.12619184
99microtubule depolymerization (GO:0007019)3.12139341
100positive regulation of inositol phosphate biosynthetic process (GO:0060732)3.11329311
101mitotic spindle assembly checkpoint (GO:0007094)3.09629815
102GPI anchor biosynthetic process (GO:0006506)3.07881142
103chromosome segregation (GO:0007059)3.07737950
104regulation of helicase activity (GO:0051095)3.07657962
105regulation of sister chromatid segregation (GO:0033045)3.06173553
106regulation of mitotic sister chromatid separation (GO:0010965)3.06173553
107regulation of mitotic sister chromatid segregation (GO:0033047)3.06173553
108spindle assembly checkpoint (GO:0071173)3.06156162
109cilium or flagellum-dependent cell motility (GO:0001539)3.05440180
110termination of RNA polymerase I transcription (GO:0006363)3.05368231
1117-methylguanosine mRNA capping (GO:0006370)3.05117687
112purine nucleobase biosynthetic process (GO:0009113)3.04341641
113rRNA modification (GO:0000154)3.04190745
114somatic diversification of immune receptors via somatic mutation (GO:0002566)3.03570084
115somatic hypermutation of immunoglobulin genes (GO:0016446)3.03570084
116dopamine biosynthetic process (GO:0042416)3.02079319
117axonemal dynein complex assembly (GO:0070286)3.00356033
118GPI anchor metabolic process (GO:0006505)2.99579507
119preassembly of GPI anchor in ER membrane (GO:0016254)2.97949644
120cerebral cortex radially oriented cell migration (GO:0021799)2.95568097
121negative regulation of execution phase of apoptosis (GO:1900118)2.94047712
122negative regulation of neurotransmitter secretion (GO:0046929)2.88250363
123superoxide anion generation (GO:0042554)2.88077464
124neuron remodeling (GO:0016322)2.87360627
125positive regulation of action potential (GO:0045760)2.86070013
126cilium movement (GO:0003341)2.85544032
127postsynaptic membrane organization (GO:0001941)2.79448076
128dopamine transport (GO:0015872)2.78965158
129ionotropic glutamate receptor signaling pathway (GO:0035235)2.75992819
130regulation of platelet aggregation (GO:0090330)2.73787397
131mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.73253252
132retina layer formation (GO:0010842)2.71203300
133response to redox state (GO:0051775)2.70937431
134epithelial cilium movement (GO:0003351)2.70571233
135glucosamine-containing compound catabolic process (GO:1901072)2.70244086
136positive regulation of synapse assembly (GO:0051965)2.69028270
137fatty acid elongation (GO:0030497)2.68665587
138negative regulation of protein localization to cell surface (GO:2000009)2.67353978
139nonmotile primary cilium assembly (GO:0035058)2.65676477
140nucleotide transmembrane transport (GO:1901679)2.65661604
141developmental pigmentation (GO:0048066)2.65303798
142regulation of development, heterochronic (GO:0040034)2.64309855
143positive regulation of protein homodimerization activity (GO:0090073)2.64202623
144protein localization to cilium (GO:0061512)2.62862485
145regulation of feeding behavior (GO:0060259)2.62697320
146response to epinephrine (GO:0071871)2.62238176
147regulation of pigment cell differentiation (GO:0050932)2.61168121
148oligodendrocyte differentiation (GO:0048709)2.61042458
149glutamate receptor signaling pathway (GO:0007215)2.60262991
150regulation of memory T cell differentiation (GO:0043380)2.59619580
151cranial nerve morphogenesis (GO:0021602)2.58634182
152gamma-aminobutyric acid signaling pathway (GO:0007214)2.57347243
153cellular response to epinephrine stimulus (GO:0071872)2.57027932
154acrosome reaction (GO:0007340)2.55728099
155reflex (GO:0060004)2.54642135
156myelination (GO:0042552)2.53916854
157centriole replication (GO:0007099)2.53081902
158regulation of neuron projection regeneration (GO:0070570)2.52663425
159regulation of axon regeneration (GO:0048679)2.52663425
160mannosylation (GO:0097502)2.51605090
161glycerophospholipid catabolic process (GO:0046475)2.50605090
162centriole assembly (GO:0098534)2.50162712
163spinal cord motor neuron differentiation (GO:0021522)2.50078250
164photoreceptor cell differentiation (GO:0046530)2.49719214
165eye photoreceptor cell differentiation (GO:0001754)2.49719214
166regulation of inositol phosphate biosynthetic process (GO:0010919)2.49650506
167transmission of nerve impulse (GO:0019226)2.48746678
168serotonin receptor signaling pathway (GO:0007210)2.45063920
169regulation of catecholamine metabolic process (GO:0042069)2.43254837
170regulation of dopamine metabolic process (GO:0042053)2.43254837
171cell morphogenesis involved in neuron differentiation (GO:0048667)2.42343802
172ensheathment of neurons (GO:0007272)2.42309403
173axon ensheathment (GO:0008366)2.42309403
174cranial nerve development (GO:0021545)2.41561018
175negative regulation of homotypic cell-cell adhesion (GO:0034111)2.41175737
176RNA destabilization (GO:0050779)2.40316582
177motile cilium assembly (GO:0044458)2.40091952
178detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.40078388
179negative regulation of myoblast differentiation (GO:0045662)2.38821845
180positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)2.38248884
181sympathetic nervous system development (GO:0048485)2.36825862
182mesenchymal cell differentiation involved in renal system development (GO:2001012)2.36647500
183mesenchymal cell differentiation involved in kidney development (GO:0072161)2.36647500
184inner ear receptor stereocilium organization (GO:0060122)2.35753154
185import into cell (GO:0098657)2.34964041
186G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.34866030
187cyclic nucleotide catabolic process (GO:0009214)2.33520445
188female gonad development (GO:0008585)2.33064435
189positive regulation of cellular amine metabolic process (GO:0033240)2.32750871
190glycolipid biosynthetic process (GO:0009247)2.31687848
191spinal cord association neuron differentiation (GO:0021527)2.30959179
192photoreceptor cell maintenance (GO:0045494)2.30217066
193regulation of collateral sprouting (GO:0048670)2.30111813
194regulation of synapse assembly (GO:0051963)2.29769303
195cell differentiation in spinal cord (GO:0021515)2.29720616
196polyol transport (GO:0015791)2.27734648
197activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.27396958
198GTP biosynthetic process (GO:0006183)2.26880806

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.50724419
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.03665552
3* E2F4_17652178_ChIP-ChIP_JURKAT_Human4.04105161
4* GABP_17652178_ChIP-ChIP_JURKAT_Human4.02918664
5GBX2_23144817_ChIP-Seq_PC3_Human3.92473646
6* EST1_17652178_ChIP-ChIP_JURKAT_Human3.89958318
7EZH2_22144423_ChIP-Seq_EOC_Human3.55270270
8FOXM1_23109430_ChIP-Seq_U2OS_Human3.33066792
9* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.14377920
10* ELK1_19687146_ChIP-ChIP_HELA_Human3.09472183
11* MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.08888855
12CREB1_15753290_ChIP-ChIP_HEK293T_Human2.99126213
13MYC_18555785_ChIP-Seq_MESCs_Mouse2.91111497
14* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.85729433
15TAF15_26573619_Chip-Seq_HEK293_Human2.78444461
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.74371758
17JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.64383141
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.60233658
19HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.54223090
20ETS1_20019798_ChIP-Seq_JURKAT_Human2.52334434
21PCGF2_27294783_Chip-Seq_ESCs_Mouse2.46637643
22E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.45246546
23VDR_23849224_ChIP-Seq_CD4+_Human2.42169585
24BMI1_23680149_ChIP-Seq_NPCS_Mouse2.36638648
25PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.35838630
26* ELF1_17652178_ChIP-ChIP_JURKAT_Human2.31429731
27FLI1_27457419_Chip-Seq_LIVER_Mouse2.30651490
28POU3F2_20337985_ChIP-ChIP_501MEL_Human2.30119064
29JARID2_20064375_ChIP-Seq_MESCs_Mouse2.27893327
30* FOXP3_21729870_ChIP-Seq_TREG_Human2.21517403
31NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.19693393
32TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.19612461
33SALL1_21062744_ChIP-ChIP_HESCs_Human2.19027968
34IGF1R_20145208_ChIP-Seq_DFB_Human2.17420173
35CBX2_27304074_Chip-Seq_ESCs_Mouse2.12685596
36SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.10417826
37VDR_22108803_ChIP-Seq_LS180_Human2.08681901
38* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.05288564
39EZH2_27304074_Chip-Seq_ESCs_Mouse2.05147678
40EED_16625203_ChIP-ChIP_MESCs_Mouse2.03605935
41CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.03049091
42SUZ12_27294783_Chip-Seq_NPCs_Mouse2.02595962
43* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.97826354
44PCGF2_27294783_Chip-Seq_NPCs_Mouse1.97097295
45PADI4_21655091_ChIP-ChIP_MCF-7_Human1.96082678
46AR_21909140_ChIP-Seq_LNCAP_Human1.94681518
47P300_19829295_ChIP-Seq_ESCs_Human1.93352044
48MYC_19079543_ChIP-ChIP_MESCs_Mouse1.93105005
49GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.92565048
50* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.90722754
51SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.90584392
52SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.89486345
53NFE2_27457419_Chip-Seq_LIVER_Mouse1.88549492
54SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.88519059
55HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.88295244
56SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.84020882
57FUS_26573619_Chip-Seq_HEK293_Human1.82781860
58CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82167100
59DCP1A_22483619_ChIP-Seq_HELA_Human1.82009712
60NANOG_18555785_Chip-Seq_ESCs_Mouse1.80036140
61EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.79783001
62EZH2_27294783_Chip-Seq_NPCs_Mouse1.79584652
63TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.79232109
64CTBP2_25329375_ChIP-Seq_LNCAP_Human1.77394046
65HOXB4_20404135_ChIP-ChIP_EML_Mouse1.75159442
66RNF2_27304074_Chip-Seq_NSC_Mouse1.74891817
67KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.74437239
68SRF_21415370_ChIP-Seq_HL-1_Mouse1.73987404
69SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.72898493
70* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.69515332
71NELFA_20434984_ChIP-Seq_ESCs_Mouse1.68765733
72E2F1_18555785_ChIP-Seq_MESCs_Mouse1.68284242
73E2F1_21310950_ChIP-Seq_MCF-7_Human1.68115891
74SUZ12_18555785_Chip-Seq_ESCs_Mouse1.67805121
75CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.67471902
76P53_22387025_ChIP-Seq_ESCs_Mouse1.66530755
77EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.65953831
78ER_23166858_ChIP-Seq_MCF-7_Human1.64867237
79JARID2_20075857_ChIP-Seq_MESCs_Mouse1.62734644
80EZH2_18974828_ChIP-Seq_MESCs_Mouse1.62069383
81RNF2_18974828_ChIP-Seq_MESCs_Mouse1.62069383
82E2F1_18555785_Chip-Seq_ESCs_Mouse1.61800661
83PIAS1_25552417_ChIP-Seq_VCAP_Human1.60883081
84STAT3_18555785_Chip-Seq_ESCs_Mouse1.60171669
85EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.59078662
86YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.58704138
87CMYC_18555785_Chip-Seq_ESCs_Mouse1.58077297
88P300_18555785_Chip-Seq_ESCs_Mouse1.57420634
89HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.56577979
90AR_21572438_ChIP-Seq_LNCaP_Human1.56296863
91CDX2_19796622_ChIP-Seq_MESCs_Mouse1.55971035
92RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.55901801
93BP1_19119308_ChIP-ChIP_Hs578T_Human1.55457962
94MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.54578247
95SMAD3_21741376_ChIP-Seq_EPCs_Human1.53223140
96SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.52024434
97THAP11_20581084_ChIP-Seq_MESCs_Mouse1.51934919
98TTF2_22483619_ChIP-Seq_HELA_Human1.51880412
99ZNF274_21170338_ChIP-Seq_K562_Hela1.50987214
100EZH2_27294783_Chip-Seq_ESCs_Mouse1.50930792
101PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.50736834
102MYC_18940864_ChIP-ChIP_HL60_Human1.49114941
103RUNX1_27457419_Chip-Seq_LIVER_Mouse1.48594191
104NMYC_18555785_Chip-Seq_ESCs_Mouse1.48011550
105* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.46194658
106EWS_26573619_Chip-Seq_HEK293_Human1.45699004
107SMAD4_21799915_ChIP-Seq_A2780_Human1.45388137
108RNF2_27304074_Chip-Seq_ESCs_Mouse1.44764025
109TAL1_26923725_Chip-Seq_HPCs_Mouse1.44519993
110* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.44298078
111SUZ12_27294783_Chip-Seq_ESCs_Mouse1.43952948
112GABP_19822575_ChIP-Seq_HepG2_Human1.42976860
113UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.40840450
114OCT4_18555785_Chip-Seq_ESCs_Mouse1.40665849
115SOX2_18555785_Chip-Seq_ESCs_Mouse1.39969762
116TOP2B_26459242_ChIP-Seq_MCF-7_Human1.39414672
117MTF2_20144788_ChIP-Seq_MESCs_Mouse1.39106185
118* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38813144
119MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.36396098
120MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.36110912
121CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34305333
122SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.33897498
123KLF4_18555785_Chip-Seq_ESCs_Mouse1.33557733
124ZFX_18555785_Chip-Seq_ESCs_Mouse1.32008650
125FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.29796617
126CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.29781380
127PU1_27457419_Chip-Seq_LIVER_Mouse1.28477423
128PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.28408085
129CRX_20693478_ChIP-Seq_RETINA_Mouse1.27939128
130SMAD1_18555785_Chip-Seq_ESCs_Mouse1.27801982
131ESRRB_18555785_Chip-Seq_ESCs_Mouse1.25969631
132ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.24724719
133CTCF_18555785_Chip-Seq_ESCs_Mouse1.24492772
134AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.24423375
135OCT4_21477851_ChIP-Seq_ESCs_Mouse1.23729999
136FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.22754619
137POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.21015534
138IRF1_19129219_ChIP-ChIP_H3396_Human1.20647363
139ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.19992914
140KDM2B_26808549_Chip-Seq_REH_Human1.19183811
141POU5F1_16153702_ChIP-ChIP_HESCs_Human1.17816072
142SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.17746248
143SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17705156
144TP53_18474530_ChIP-ChIP_U2OS_Human1.17345955
145XRN2_22483619_ChIP-Seq_HELA_Human1.14884656
146CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.14211463
147RUNX2_22187159_ChIP-Seq_PCA_Human1.14177438
148RBPJ_22232070_ChIP-Seq_NCS_Mouse1.13198733
149ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.11872413
150STAT3_23295773_ChIP-Seq_U87_Human1.11501017
151NOTCH1_21737748_ChIP-Seq_TLL_Human1.10349100
152TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09923640
153POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.09923640
154POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.09743147
155YY1_21170310_ChIP-Seq_MESCs_Mouse1.09441739
156TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08436703
157SMAD_19615063_ChIP-ChIP_OVARY_Human1.07992037
158HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.06299685
159NANOG_16153702_ChIP-ChIP_HESCs_Human1.05855456
160* ELK1_22589737_ChIP-Seq_MCF10A_Human0.99687420
161E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.99337406
162SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.98875352
163* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88855926
164* PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.87743456
165ERG_20887958_ChIP-Seq_HPC-7_Mouse0.87080883
166ZFX_18555785_ChIP-Seq_MESCs_Mouse0.85830616
167EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.85609103
168RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.84856607
169SALL4_22934838_ChIP-ChIP_CD34+_Human0.84448660
170MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.83803108
171SOX2_16153702_ChIP-ChIP_HESCs_Human0.83774611
172NANOG_19829295_ChIP-Seq_ESCs_Human0.81182370
173SOX2_19829295_ChIP-Seq_ESCs_Human0.81182370
174* SOX17_20123909_ChIP-Seq_XEN_Mouse0.80806276
175NANOG_18555785_ChIP-Seq_MESCs_Mouse0.80555926
176IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.78813350
177SOX2_18555785_ChIP-Seq_MESCs_Mouse0.77165230
178FOXA1_27270436_Chip-Seq_PROSTATE_Human0.75524966
179FOXA1_25329375_ChIP-Seq_VCAP_Human0.75524966
180CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.74121884

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0010094_abnormal_chromosome_stability4.71874354
2* MP0008058_abnormal_DNA_repair4.44150788
3MP0004957_abnormal_blastocyst_morpholog4.09143577
4MP0001188_hyperpigmentation4.01649786
5MP0003880_abnormal_central_pattern3.90675075
6MP0003693_abnormal_embryo_hatching3.69956798
7MP0003136_yellow_coat_color3.67689870
8MP0003718_maternal_effect3.46042643
9MP0003111_abnormal_nucleus_morphology3.40166512
10MP0009697_abnormal_copulation3.37267611
11MP0003806_abnormal_nucleotide_metabolis3.34448577
12MP0003077_abnormal_cell_cycle3.18622665
13MP0005409_darkened_coat_color3.10898360
14MP0002102_abnormal_ear_morphology2.92624478
15MP0008932_abnormal_embryonic_tissue2.75952133
16MP0005379_endocrine/exocrine_gland_phen2.68938681
17MP0003786_premature_aging2.64174094
18MP0008007_abnormal_cellular_replicative2.46610607
19MP0006292_abnormal_olfactory_placode2.43547426
20MP0001986_abnormal_taste_sensitivity2.39508853
21MP0004381_abnormal_hair_follicle2.31635801
22MP0004742_abnormal_vestibular_system2.25811222
23MP0001486_abnormal_startle_reflex2.21763654
24MP0001905_abnormal_dopamine_level2.21235255
25MP0005171_absent_coat_pigmentation2.20006255
26MP0000566_synostosis2.18412901
27MP0001529_abnormal_vocalization2.18224106
28MP0003186_abnormal_redox_activity2.12211612
29MP0005084_abnormal_gallbladder_morpholo2.08326331
30MP0006276_abnormal_autonomic_nervous2.02683276
31MP0005645_abnormal_hypothalamus_physiol1.88369790
32MP0005646_abnormal_pituitary_gland1.83633061
33MP0009745_abnormal_behavioral_response1.81524759
34MP0002163_abnormal_gland_morphology1.79047223
35MP0004142_abnormal_muscle_tone1.75199351
36MP0006035_abnormal_mitochondrial_morpho1.73288915
37MP0002272_abnormal_nervous_system1.72947771
38MP0005451_abnormal_body_composition1.71141257
39MP0005423_abnormal_somatic_nervous1.68647952
40MP0003890_abnormal_embryonic-extraembry1.67919926
41MP0008789_abnormal_olfactory_epithelium1.67260008
42MP0001968_abnormal_touch/_nociception1.67001535
43MP0002736_abnormal_nociception_after1.65303682
44MP0002735_abnormal_chemical_nociception1.63687421
45MP0005410_abnormal_fertilization1.63588993
46MP0002277_abnormal_respiratory_mucosa1.63072264
47MP0000920_abnormal_myelination1.61991628
48MP0000026_abnormal_inner_ear1.61775209
49MP0009379_abnormal_foot_pigmentation1.60715965
50MP0002572_abnormal_emotion/affect_behav1.59930707
51MP0001929_abnormal_gametogenesis1.59147575
52MP0003787_abnormal_imprinting1.55544102
53MP0009046_muscle_twitch1.55335917
54MP0000383_abnormal_hair_follicle1.53848093
55MP0001440_abnormal_grooming_behavior1.53796185
56MP0006036_abnormal_mitochondrial_physio1.52111071
57MP0004147_increased_porphyrin_level1.51220448
58MP0001963_abnormal_hearing_physiology1.50414649
59MP0001293_anophthalmia1.48720586
60MP0002210_abnormal_sex_determination1.48415629
61MP0002064_seizures1.44659132
62MP0000778_abnormal_nervous_system1.44225402
63MP0005551_abnormal_eye_electrophysiolog1.42617970
64MP0002638_abnormal_pupillary_reflex1.42145638
65MP0003950_abnormal_plasma_membrane1.38706370
66MP0002067_abnormal_sensory_capabilities1.38672859
67MP0003635_abnormal_synaptic_transmissio1.38651122
68MP0005408_hypopigmentation1.37642443
69MP0000372_irregular_coat_pigmentation1.35946315
70MP0008877_abnormal_DNA_methylation1.33494117
71MP0003938_abnormal_ear_development1.32872033
72MP0001501_abnormal_sleep_pattern1.31004271
73MP0003011_delayed_dark_adaptation1.28273848
74MP0000358_abnormal_cell_content/1.28128495
75MP0002876_abnormal_thyroid_physiology1.24450768
76MP0001485_abnormal_pinna_reflex1.24317058
77MP0000653_abnormal_sex_gland1.23075997
78MP0000631_abnormal_neuroendocrine_gland1.22955243
79MP0004270_analgesia1.22440638
80MP0000350_abnormal_cell_proliferation1.22185785
81MP0001697_abnormal_embryo_size1.21711827
82MP0001145_abnormal_male_reproductive1.21585324
83MP0002557_abnormal_social/conspecific_i1.20336156
84MP0002734_abnormal_mechanical_nocicepti1.19120972
85MP0004215_abnormal_myocardial_fiber1.18474754
86MP0003937_abnormal_limbs/digits/tail_de1.17426399
87MP0001730_embryonic_growth_arrest1.15167389
88MP0005499_abnormal_olfactory_system1.14554011
89MP0005394_taste/olfaction_phenotype1.14554011
90MP0010307_abnormal_tumor_latency1.14240543
91MP0000015_abnormal_ear_pigmentation1.12974830
92MP0006072_abnormal_retinal_apoptosis1.11940649
93MP0002063_abnormal_learning/memory/cond1.11027141
94MP0002184_abnormal_innervation1.10634345
95MP0002752_abnormal_somatic_nervous1.10201312
96MP0004133_heterotaxia1.10044425
97MP0003941_abnormal_skin_development1.09249423
98MP0008260_abnormal_autophagy1.08707511
99MP0001119_abnormal_female_reproductive1.08203490
100MP0000462_abnormal_digestive_system1.06683560
101MP0003121_genomic_imprinting1.02088788
102MP0002233_abnormal_nose_morphology1.01994548
103MP0006054_spinal_hemorrhage1.01239810
104MP0010030_abnormal_orbit_morphology1.01028409
105MP0005174_abnormal_tail_pigmentation1.00717468
106MP0002938_white_spotting1.00606115
107MP0001502_abnormal_circadian_rhythm1.00389040
108* MP0000313_abnormal_cell_death1.00140335
109MP0008872_abnormal_physiological_respon0.99493918
110MP0002148_abnormal_hypersensitivity_rea0.98874588
111MP0005253_abnormal_eye_physiology0.98486528
112MP0005395_other_phenotype0.98458052
113MP0008995_early_reproductive_senescence0.98001579
114MP0001764_abnormal_homeostasis0.97387443
115MP0002160_abnormal_reproductive_system0.97035184
116MP0001970_abnormal_pain_threshold0.96996872
117MP0000049_abnormal_middle_ear0.96427709
118MP0003724_increased_susceptibility_to0.95636010
119MP0005367_renal/urinary_system_phenotyp0.91498164
120MP0000516_abnormal_urinary_system0.91498164
121MP0002085_abnormal_embryonic_tissue0.90473769
122MP0000749_muscle_degeneration0.89967070
123MP0002095_abnormal_skin_pigmentation0.89876436
124MP0002084_abnormal_developmental_patter0.89444480
125* MP0002080_prenatal_lethality0.89008860
126MP0001984_abnormal_olfaction0.87664867
127MP0002090_abnormal_vision0.87349393
128MP0002751_abnormal_autonomic_nervous0.86145155
129MP0002132_abnormal_respiratory_system0.86113016
130MP0008875_abnormal_xenobiotic_pharmacok0.85691658
131MP0001672_abnormal_embryogenesis/_devel0.85490386
132MP0005380_embryogenesis_phenotype0.85490386
133MP0004859_abnormal_synaptic_plasticity0.83692568
134MP0002882_abnormal_neuron_morphology0.82767941
135MP0003567_abnormal_fetal_cardiomyocyte0.82563810
136MP0009250_abnormal_appendicular_skeleto0.81676045
137MP0001664_abnormal_digestion0.80869870
138MP0002733_abnormal_thermal_nociception0.80206276
139MP0002249_abnormal_larynx_morphology0.77561588
140MP0008057_abnormal_DNA_replication0.76410355
141MP0001346_abnormal_lacrimal_gland0.76234129
142MP0002234_abnormal_pharynx_morphology0.76171007
143MP0000569_abnormal_digit_pigmentation0.75610493
144MP0002019_abnormal_tumor_incidence0.75254855
145MP0001286_abnormal_eye_development0.74842507
146MP0002837_dystrophic_cardiac_calcinosis0.74196845
147MP0000762_abnormal_tongue_morphology0.72886120
148MP0010678_abnormal_skin_adnexa0.72848146
149MP0000613_abnormal_salivary_gland0.72748191
150MP0001727_abnormal_embryo_implantation0.71883115
151MP0002282_abnormal_trachea_morphology0.71283414
152MP0003195_calcinosis0.70351049
153MP0002229_neurodegeneration0.70127437
154MP0001661_extended_life_span0.68170796
155MP0005195_abnormal_posterior_eye0.66402398
156MP0005075_abnormal_melanosome_morpholog0.66387068
157MP0000427_abnormal_hair_cycle0.66181594
158MP0002177_abnormal_outer_ear0.66085697
159MP0005389_reproductive_system_phenotype0.66028178
160MP0003698_abnormal_male_reproductive0.65994025
161MP0002928_abnormal_bile_duct0.65910059
162MP0000647_abnormal_sebaceous_gland0.64593806
163MP0002066_abnormal_motor_capabilities/c0.63481387
164MP0004084_abnormal_cardiac_muscle0.62718195
165MP0000955_abnormal_spinal_cord0.62371267
166MP0008569_lethality_at_weaning0.61857011
167MP0010386_abnormal_urinary_bladder0.61735143
168MP0003123_paternal_imprinting0.61650568
169MP0003984_embryonic_growth_retardation0.60777217
170MP0001853_heart_inflammation0.60455373
171MP0002006_tumorigenesis0.59712541

Predicted human phenotypes

RankGene SetZ-score
1Absent/shortened dynein arms (HP:0200106)4.23362469
2Dynein arm defect of respiratory motile cilia (HP:0012255)4.23362469
3Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.08649367
4Acute encephalopathy (HP:0006846)3.94342592
5Abnormal ciliary motility (HP:0012262)3.90510276
6Abnormal mitochondria in muscle tissue (HP:0008316)3.82242647
7Increased CSF lactate (HP:0002490)3.76683659
8Parakeratosis (HP:0001036)3.45638096
9Hepatocellular necrosis (HP:0001404)3.44179067
10Abnormal respiratory motile cilium physiology (HP:0012261)3.43630212
11Abnormal respiratory epithelium morphology (HP:0012253)3.42471054
12Abnormal respiratory motile cilium morphology (HP:0005938)3.42471054
13Chromosomal breakage induced by crosslinking agents (HP:0003221)3.34225772
14Abnormality of chromosome stability (HP:0003220)3.28255531
15Hepatic necrosis (HP:0002605)3.16968539
16Patchy hypopigmentation of hair (HP:0011365)3.14062964
17Meckel diverticulum (HP:0002245)3.10866169
18Abnormality of the labia minora (HP:0012880)3.08104333
19Septo-optic dysplasia (HP:0100842)3.03900029
20Hypothermia (HP:0002045)3.03572886
21Upper limb muscle weakness (HP:0003484)3.02201216
22Chromsome breakage (HP:0040012)3.01889936
23Abnormality of the ileum (HP:0001549)2.99953477
24White forelock (HP:0002211)2.97543264
25Cerebral edema (HP:0002181)2.91335101
26Febrile seizures (HP:0002373)2.89713701
27Abnormal lung lobation (HP:0002101)2.89475268
28Focal motor seizures (HP:0011153)2.87980691
29Aplasia/Hypoplasia of the uvula (HP:0010293)2.87594823
30Dyschromatopsia (HP:0007641)2.83834143
31Increased serum lactate (HP:0002151)2.83474690
32Aplasia cutis congenita (HP:0001057)2.82746638
33Abnormality of the preputium (HP:0100587)2.81682678
34Small intestinal stenosis (HP:0012848)2.76776699
35Duodenal stenosis (HP:0100867)2.76776699
36Colon cancer (HP:0003003)2.75603868
37Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.75128547
38Exertional dyspnea (HP:0002875)2.70628612
39Duplicated collecting system (HP:0000081)2.67765009
40Decreased activity of mitochondrial respiratory chain (HP:0008972)2.67292800
41Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.67292800
42Abnormality of secondary sexual hair (HP:0009888)2.64289026
43Abnormality of the axillary hair (HP:0100134)2.64289026
44Amniotic constriction ring (HP:0009775)2.62229776
45Abnormality of placental membranes (HP:0011409)2.62229776
46Methylmalonic acidemia (HP:0002912)2.61595911
47Volvulus (HP:0002580)2.60577752
48Medial flaring of the eyebrow (HP:0010747)2.59992599
49Degeneration of the lateral corticospinal tracts (HP:0002314)2.57787198
50Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.57787198
51Increased intramyocellular lipid droplets (HP:0012240)2.57093628
52Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.53378228
53Congenital, generalized hypertrichosis (HP:0004540)2.52601641
54Congenital sensorineural hearing impairment (HP:0008527)2.50718193
55Tubulointerstitial nephritis (HP:0001970)2.49991291
56Nephronophthisis (HP:0000090)2.49838154
57Decreased central vision (HP:0007663)2.48331780
58Lactic acidosis (HP:0003128)2.47173421
59Abnormality of the renal collecting system (HP:0004742)2.46081233
60Cupped ear (HP:0000378)2.44893080
61Abnormality of the duodenum (HP:0002246)2.41331509
62Pancreatic cysts (HP:0001737)2.40459224
63Respiratory difficulties (HP:0002880)2.38559034
64True hermaphroditism (HP:0010459)2.37882493
65Abnormality of the anterior horn cell (HP:0006802)2.35458425
66Degeneration of anterior horn cells (HP:0002398)2.35458425
673-Methylglutaconic aciduria (HP:0003535)2.34588663
68Abnormality of methionine metabolism (HP:0010901)2.31098223
69Anomalous pulmonary venous return (HP:0010772)2.30042649
70Renal Fanconi syndrome (HP:0001994)2.27571899
71Sloping forehead (HP:0000340)2.27231173
72Increased serum pyruvate (HP:0003542)2.27220099
73Abnormality of the renal medulla (HP:0100957)2.26425448
74Abnormality of aspartate family amino acid metabolism (HP:0010899)2.25670222
75Absent septum pellucidum (HP:0001331)2.25568888
76Respiratory failure (HP:0002878)2.22562893
77Increased hepatocellular lipid droplets (HP:0006565)2.22095539
78Nephroblastoma (Wilms tumor) (HP:0002667)2.21903754
79Type I transferrin isoform profile (HP:0003642)2.21751111
80Agnosia (HP:0010524)2.20819814
81Hyperglycinemia (HP:0002154)2.19977454
82Optic nerve hypoplasia (HP:0000609)2.18477767
83Double outlet right ventricle (HP:0001719)2.18360753
84Congenital malformation of the right heart (HP:0011723)2.18360753
85Embryonal renal neoplasm (HP:0011794)2.15572027
86Leukodystrophy (HP:0002415)2.15476447
87Aplastic anemia (HP:0001915)2.14828644
88Median cleft lip (HP:0000161)2.12837266
89Abnormal hair whorl (HP:0010721)2.12111500
90Hyperventilation (HP:0002883)2.10773767
91Congenital stationary night blindness (HP:0007642)2.10458510
92Myelodysplasia (HP:0002863)2.10197589
93Abnormality of the parathyroid morphology (HP:0011766)2.09337344
94Acute necrotizing encephalopathy (HP:0006965)2.08516560
95Duplication of thumb phalanx (HP:0009942)2.08502851
96Pancytopenia (HP:0001876)2.07468001
97Male pseudohermaphroditism (HP:0000037)2.06857632
98Prostate neoplasm (HP:0100787)2.06274364
99Ependymoma (HP:0002888)2.06029336
100Increased corneal curvature (HP:0100692)2.05823124
101Keratoconus (HP:0000563)2.05823124
102Methylmalonic aciduria (HP:0012120)2.05442611
103Intestinal atresia (HP:0011100)2.05013352
104Neoplasm of the adrenal gland (HP:0100631)2.02683556
105Osteomalacia (HP:0002749)2.02598426
106Exercise intolerance (HP:0003546)2.02562424
107Medulloblastoma (HP:0002885)2.02560545
108Abnormality of the septum pellucidum (HP:0007375)2.01886597
109Genital tract atresia (HP:0001827)2.00911012
110Abnormality of the pulmonary veins (HP:0011718)1.99681246
111Abnormal spermatogenesis (HP:0008669)1.99274937
112Vaginal atresia (HP:0000148)1.99186746
113Abnormality of renal resorption (HP:0011038)1.98639958
114Rhabdomyosarcoma (HP:0002859)1.98111968
115Oral leukoplakia (HP:0002745)1.97075381
116Conical tooth (HP:0000698)1.97048026
117Fair hair (HP:0002286)1.96953561
118Attenuation of retinal blood vessels (HP:0007843)1.96789985
119Reticulocytopenia (HP:0001896)1.96724005
120Abnormality of glycolysis (HP:0004366)1.95556207
121Aplasia/Hypoplasia of the fovea (HP:0008060)1.95299352
122Hypoplasia of the fovea (HP:0007750)1.95299352
123Chin dimple (HP:0010751)1.94134310
124Gait imbalance (HP:0002141)1.94119207
125Abnormality of serum amino acid levels (HP:0003112)1.93017339
126Pancreatic fibrosis (HP:0100732)1.92481838
127Optic disc pallor (HP:0000543)1.92261506
128Increased muscle lipid content (HP:0009058)1.90977874
129Congenital primary aphakia (HP:0007707)1.90544203
130Rhinitis (HP:0012384)1.90079886
131Nasolacrimal duct obstruction (HP:0000579)1.88413010
132Retinal dysplasia (HP:0007973)1.88410325
133Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.87616113
134Abnormality of the lacrimal duct (HP:0011481)1.86923108
135Glycosuria (HP:0003076)1.86839416
136Abnormality of urine glucose concentration (HP:0011016)1.86839416
137Type 2 muscle fiber atrophy (HP:0003554)1.85968245
138Renal cortical cysts (HP:0000803)1.85526005
139Epileptic encephalopathy (HP:0200134)1.85121675
140Nonprogressive disorder (HP:0003680)1.84460246
141Nephrogenic diabetes insipidus (HP:0009806)1.84236424
142Aplasia/Hypoplasia of the lens (HP:0008063)1.83871393
143Aplasia/Hypoplasia of the sacrum (HP:0008517)1.83830918
144Triphalangeal thumb (HP:0001199)1.83804910
145Peripheral hypomyelination (HP:0007182)1.83763111
146Abnormality of the nasolacrimal system (HP:0000614)1.83762996
147Birth length less than 3rd percentile (HP:0003561)1.82798490
148Lethargy (HP:0001254)1.82221903
149Abnormal biliary tract physiology (HP:0012439)1.81513462
150Bile duct proliferation (HP:0001408)1.81513462
151Neoplasm of the colon (HP:0100273)1.81133591
152Abnormality of DNA repair (HP:0003254)1.80731465
153Atelectasis (HP:0100750)1.80024406
154Abnormality of the fovea (HP:0000493)1.79510623
155Absent thumb (HP:0009777)1.77927252
156Aplasia/Hypoplasia of the tongue (HP:0010295)1.77871153
157Supernumerary spleens (HP:0009799)1.77345213
158Asplenia (HP:0001746)1.76783613
159Abnormality of incisor morphology (HP:0011063)1.76561244
160Concave nail (HP:0001598)1.75937899
161Preaxial hand polydactyly (HP:0001177)1.75821507
162Molar tooth sign on MRI (HP:0002419)1.75560998
163Abnormality of midbrain morphology (HP:0002418)1.75560998
164Mitochondrial inheritance (HP:0001427)1.75371492
165Adrenal hypoplasia (HP:0000835)1.74039612
166IgM deficiency (HP:0002850)1.73410448
167Progressive macrocephaly (HP:0004481)1.73405531
168Central scotoma (HP:0000603)1.71309237
169Hypomagnesemia (HP:0002917)1.69847516
170Renal agenesis (HP:0000104)1.69100862
171Postaxial foot polydactyly (HP:0001830)1.68375745
172Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.68276219
173Broad-based gait (HP:0002136)1.68139587
174Overfolded helix (HP:0000396)1.67938966
175Aplasia/Hypoplasia of the tibia (HP:0005772)1.66596647
176Congenital hepatic fibrosis (HP:0002612)1.63609714
177Lipid accumulation in hepatocytes (HP:0006561)1.62721780
178Absent rod-and cone-mediated responses on ERG (HP:0007688)1.62017062
179Congenital ichthyosiform erythroderma (HP:0007431)1.61273104

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.54907232
2TNIK4.05695147
3BUB13.89876060
4STK163.35537113
5EIF2AK32.96752602
6VRK22.90527906
7CDC72.77496012
8BLK2.70717545
9EIF2AK12.69487172
10TTK2.65099333
11NEK12.63259593
12WEE12.53861566
13PLK32.47432350
14PLK42.36658315
15STK392.29899554
16TRIM282.19803463
17BRSK22.17494758
18GRK12.13255740
19BMPR1B2.01331928
20BMPR21.98058119
21GRK71.87020990
22TSSK61.85269298
23MUSK1.82726585
24OXSR11.78257340
25MKNK21.75878167
26MAP2K71.75628207
27ADRBK21.71821730
28EIF2AK21.66164399
29PLK11.59444644
30MAPKAPK51.57373946
31INSRR1.56445908
32PKN11.55640095
33TXK1.54973474
34NEK61.54804314
35MAPK151.49107989
36CCNB11.49049900
37PBK1.46602963
38TAF11.39997683
39MAPK131.38926816
40NTRK31.38672519
41STK38L1.37088250
42CDK31.36933170
43IRAK41.35983647
44PNCK1.34849666
45BCR1.32585270
46MAP3K141.29035463
47MKNK11.25639935
48YES11.24871227
49MAP4K21.22019326
50EPHA41.21159179
51MST41.20606456
52CLK11.18945902
53FRK1.15619063
54ACVR1B1.14880683
55FGR1.09681225
56MAP3K131.07113164
57VRK11.06630585
58NME21.04109027
59IRAK31.00227786
60FES0.99660753
61PRKCE0.99263536
62BRSK10.98874934
63RIPK40.97351658
64AURKB0.95605714
65NUAK10.92832180
66TEC0.92059797
67CHEK20.92048923
68TIE10.90119507
69NME10.88451094
70IRAK10.88197002
71SRPK10.86261997
72STK30.85907134
73ATR0.82512112
74CAMK2B0.81872532
75PIK3CG0.81839629
76IRAK20.80867388
77PLK20.80666563
78NTRK20.80471260
79CAMK2A0.80194468
80MAPK70.76868382
81CDK190.76640004
82PDK20.75473078
83WNK40.75065274
84CDK80.73499587
85PRPF4B0.73170971
86GRK50.72523981
87PRKCQ0.72403754
88STK40.72316250
89KIT0.71019855
90MAP3K120.70631743
91SIK30.67865449
92PRKD20.66954928
93BCKDK0.65690857
94CSNK1G30.65470232
95NEK20.63985205
96PINK10.61745487
97RPS6KA50.61297346
98DYRK20.61056166
99ZAK0.60995002
100CAMK2D0.60390526
101ATM0.60387392
102LYN0.60246524
103TLK10.59791747
104SGK2230.58522278
105SGK4940.58522278
106CSNK1G10.58191753
107TNK20.58074381
108PIK3CA0.56685994
109STK100.55466785
110PRKG10.54792137
111ERBB40.54237419
112AURKA0.52068345
113WNK10.51566217
114CHEK10.50898267
115CDK70.50646897
116WNK30.50249812
117ERBB30.49985441
118* CSNK2A10.48148118
119CSNK1A1L0.48024368
120NLK0.47965293
121PAK40.47192468
122IKBKB0.47074395
123SYK0.46436783
124PRKACA0.46426498
125UHMK10.46231069
126* CSNK2A20.45796921
127DYRK30.45153389
128MST1R0.45002872
129STK240.42071772
130PASK0.41322535
131TAOK30.41221514
132IKBKE0.40542473
133CSNK1G20.40480879
134CAMK2G0.39942066
135LCK0.39891325
136FLT30.39558672
137PRKAA20.38884886
138MARK10.38343897
139SIK20.38148983
140LATS10.38092581
141OBSCN0.37945773
142BTK0.36781093
143SGK10.36293664
144ADRBK10.36204180
145TGFBR10.35116706
146MAP3K40.34935401
147MYLK0.34409571
148TRPM70.34285382
149CDK10.32570748
150DAPK10.31645608
151RPS6KA40.31292447
152MINK10.30869092
153PRKCI0.29590422
154ABL20.27173466
155FGFR10.27162700
156MARK30.26151185
157MAP3K80.25298882
158BRAF0.24908539
159CSNK1E0.20086624
160CDK20.19849057
161PAK10.18239801
162PRKCG0.18135667

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.78977705
2Mismatch repair_Homo sapiens_hsa034303.87222744
3DNA replication_Homo sapiens_hsa030303.51718424
4Nicotine addiction_Homo sapiens_hsa050333.00455676
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.75341666
6Oxidative phosphorylation_Homo sapiens_hsa001902.63253314
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.61790276
8Nucleotide excision repair_Homo sapiens_hsa034202.51537328
9Phototransduction_Homo sapiens_hsa047442.49094672
10Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.41978742
11* Non-homologous end-joining_Homo sapiens_hsa034502.33459924
12Base excision repair_Homo sapiens_hsa034102.14866060
13Sphingolipid metabolism_Homo sapiens_hsa006002.11377702
14Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.07354666
15RNA transport_Homo sapiens_hsa030132.03796868
16One carbon pool by folate_Homo sapiens_hsa006702.02940445
17Spliceosome_Homo sapiens_hsa030402.02459934
18RNA degradation_Homo sapiens_hsa030182.02279355
19Steroid biosynthesis_Homo sapiens_hsa001002.01127046
20Serotonergic synapse_Homo sapiens_hsa047262.00388024
21Cell cycle_Homo sapiens_hsa041101.96431772
22Fatty acid elongation_Homo sapiens_hsa000621.93027696
23Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.92578531
24Ether lipid metabolism_Homo sapiens_hsa005651.91422373
25Protein export_Homo sapiens_hsa030601.83142403
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.81966701
27Parkinsons disease_Homo sapiens_hsa050121.76977494
28Taste transduction_Homo sapiens_hsa047421.73225261
29Propanoate metabolism_Homo sapiens_hsa006401.69699959
30Alzheimers disease_Homo sapiens_hsa050101.69207148
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.69022503
32Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.67673563
33Pyrimidine metabolism_Homo sapiens_hsa002401.62608906
34Fanconi anemia pathway_Homo sapiens_hsa034601.61451788
35Morphine addiction_Homo sapiens_hsa050321.54646594
36Collecting duct acid secretion_Homo sapiens_hsa049661.53219212
37Autoimmune thyroid disease_Homo sapiens_hsa053201.52134529
38Caffeine metabolism_Homo sapiens_hsa002321.51302639
39Glutamatergic synapse_Homo sapiens_hsa047241.51092132
40Arachidonic acid metabolism_Homo sapiens_hsa005901.49235450
41Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.44756122
42Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.44200886
43Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.42870539
44Rheumatoid arthritis_Homo sapiens_hsa053231.42497945
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.39462139
46Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.39168998
47Huntingtons disease_Homo sapiens_hsa050161.37298835
48Linoleic acid metabolism_Homo sapiens_hsa005911.33184508
49SNARE interactions in vesicular transport_Homo sapiens_hsa041301.27430372
50Axon guidance_Homo sapiens_hsa043601.24299419
51Allograft rejection_Homo sapiens_hsa053301.22759125
52Folate biosynthesis_Homo sapiens_hsa007901.20343969
53Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.17801535
54Graft-versus-host disease_Homo sapiens_hsa053321.15868965
55Pyruvate metabolism_Homo sapiens_hsa006201.15110340
56Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.14349789
57Histidine metabolism_Homo sapiens_hsa003401.13641566
58Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.12576649
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.12163149
60Cocaine addiction_Homo sapiens_hsa050301.10227279
61Cysteine and methionine metabolism_Homo sapiens_hsa002701.09968469
62Calcium signaling pathway_Homo sapiens_hsa040201.09888804
63alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.08850261
64Basal transcription factors_Homo sapiens_hsa030221.07785895
65Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.04241962
66Oocyte meiosis_Homo sapiens_hsa041141.02816989
67Glutathione metabolism_Homo sapiens_hsa004801.02726398
68Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.01265345
69GABAergic synapse_Homo sapiens_hsa047271.00547489
70Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.99142345
71Amphetamine addiction_Homo sapiens_hsa050310.99078830
72Long-term depression_Homo sapiens_hsa047300.98225142
73Homologous recombination_Homo sapiens_hsa034400.97874912
74RNA polymerase_Homo sapiens_hsa030200.97565407
75Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.97444611
76Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.96980043
77Asthma_Homo sapiens_hsa053100.96807204
78p53 signaling pathway_Homo sapiens_hsa041150.94634905
79African trypanosomiasis_Homo sapiens_hsa051430.90228924
80Hematopoietic cell lineage_Homo sapiens_hsa046400.88946463
81Circadian entrainment_Homo sapiens_hsa047130.85255247
82Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.78258612
83Ovarian steroidogenesis_Homo sapiens_hsa049130.77547878
84Vitamin B6 metabolism_Homo sapiens_hsa007500.76742628
85Renin secretion_Homo sapiens_hsa049240.76377871
86Salivary secretion_Homo sapiens_hsa049700.75557658
87Cardiac muscle contraction_Homo sapiens_hsa042600.73474725
88Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72819828
89Selenocompound metabolism_Homo sapiens_hsa004500.72433269
90Malaria_Homo sapiens_hsa051440.72416908
91Intestinal immune network for IgA production_Homo sapiens_hsa046720.72139963
92NF-kappa B signaling pathway_Homo sapiens_hsa040640.70977127
932-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.69922874
94mRNA surveillance pathway_Homo sapiens_hsa030150.68504687
95Vitamin digestion and absorption_Homo sapiens_hsa049770.68257254
96Peroxisome_Homo sapiens_hsa041460.66464395
97Butanoate metabolism_Homo sapiens_hsa006500.65905904
98Olfactory transduction_Homo sapiens_hsa047400.65049771
99Steroid hormone biosynthesis_Homo sapiens_hsa001400.64943350
100Carbon metabolism_Homo sapiens_hsa012000.64564613
101Primary immunodeficiency_Homo sapiens_hsa053400.63750574
102Other glycan degradation_Homo sapiens_hsa005110.60701983
103Ras signaling pathway_Homo sapiens_hsa040140.60234578
104Phagosome_Homo sapiens_hsa041450.59353820
105Dopaminergic synapse_Homo sapiens_hsa047280.59082129
106Vascular smooth muscle contraction_Homo sapiens_hsa042700.58113579
107Epstein-Barr virus infection_Homo sapiens_hsa051690.54962477
108Purine metabolism_Homo sapiens_hsa002300.54527856
109Ribosome_Homo sapiens_hsa030100.54508799
110Regulation of autophagy_Homo sapiens_hsa041400.54474968
111Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.54373590
112cAMP signaling pathway_Homo sapiens_hsa040240.54356340
113Sulfur metabolism_Homo sapiens_hsa009200.53732365
114Retinol metabolism_Homo sapiens_hsa008300.53514185
115Cholinergic synapse_Homo sapiens_hsa047250.52870436
116Type I diabetes mellitus_Homo sapiens_hsa049400.51925693
117Vibrio cholerae infection_Homo sapiens_hsa051100.51260406
118Wnt signaling pathway_Homo sapiens_hsa043100.49783717
119Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.48441707
120Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48399230
121Systemic lupus erythematosus_Homo sapiens_hsa053220.47564145
122Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.46300578
123Oxytocin signaling pathway_Homo sapiens_hsa049210.45469143
124Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.43526670
125Melanoma_Homo sapiens_hsa052180.42556805
126Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.42361029
127Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41814350
128Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.41661904
129Sphingolipid signaling pathway_Homo sapiens_hsa040710.41372541
130NOD-like receptor signaling pathway_Homo sapiens_hsa046210.40191447
131Biosynthesis of amino acids_Homo sapiens_hsa012300.38417131
132Metabolic pathways_Homo sapiens_hsa011000.38080796
133Tryptophan metabolism_Homo sapiens_hsa003800.37326167
134Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.35450232
135Legionellosis_Homo sapiens_hsa051340.34364488
136Chemokine signaling pathway_Homo sapiens_hsa040620.32624648
137Alcoholism_Homo sapiens_hsa050340.32162785
138Insulin secretion_Homo sapiens_hsa049110.31825472
139Drug metabolism - other enzymes_Homo sapiens_hsa009830.30921489
140Mineral absorption_Homo sapiens_hsa049780.30714153
141N-Glycan biosynthesis_Homo sapiens_hsa005100.30232649
142Synaptic vesicle cycle_Homo sapiens_hsa047210.29159950
143ABC transporters_Homo sapiens_hsa020100.29027171
144Measles_Homo sapiens_hsa051620.28901880
145Pancreatic secretion_Homo sapiens_hsa049720.28489666
146Hedgehog signaling pathway_Homo sapiens_hsa043400.27801144
147Fatty acid metabolism_Homo sapiens_hsa012120.27410829
148Choline metabolism in cancer_Homo sapiens_hsa052310.27177547
149Pentose and glucuronate interconversions_Homo sapiens_hsa000400.26086644
150Chemical carcinogenesis_Homo sapiens_hsa052040.24156707
151Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.23917685
152TGF-beta signaling pathway_Homo sapiens_hsa043500.23486776
153Antigen processing and presentation_Homo sapiens_hsa046120.22587327
154Fatty acid degradation_Homo sapiens_hsa000710.18524988
155Herpes simplex infection_Homo sapiens_hsa051680.17551664
156Basal cell carcinoma_Homo sapiens_hsa052170.15119979
157beta-Alanine metabolism_Homo sapiens_hsa004100.10524550
158Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.08363465

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