RFXAP

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: Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit biogenesis (GO:0042274)5.44854211
2synaptic vesicle maturation (GO:0016188)5.44585712
3DNA unwinding involved in DNA replication (GO:0006268)5.08605720
4CENP-A containing nucleosome assembly (GO:0034080)5.02395986
5chromatin remodeling at centromere (GO:0031055)5.02112819
6mitotic sister chromatid cohesion (GO:0007064)4.98087029
7viral transcription (GO:0019083)4.89260253
8DNA topological change (GO:0006265)4.77739612
9translational termination (GO:0006415)4.64196493
10positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.58854692
11DNA strand elongation involved in DNA replication (GO:0006271)4.57255096
12regulation of short-term neuronal synaptic plasticity (GO:0048172)4.45002512
13DNA strand elongation (GO:0022616)4.39801109
14telomere maintenance via semi-conservative replication (GO:0032201)4.32305977
15mitotic chromosome condensation (GO:0007076)4.25431055
16kinetochore organization (GO:0051383)4.18916895
17DNA replication-independent nucleosome assembly (GO:0006336)4.18821824
18DNA replication-independent nucleosome organization (GO:0034724)4.18821824
19protein localization to synapse (GO:0035418)4.16165563
20locomotory exploration behavior (GO:0035641)4.10908558
21layer formation in cerebral cortex (GO:0021819)4.05872589
22mitotic recombination (GO:0006312)4.01712809
23positive regulation of histone H3-K4 methylation (GO:0051571)4.01496827
24DNA replication checkpoint (GO:0000076)4.01313963
25histone exchange (GO:0043486)4.00388331
26positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.97368751
27daunorubicin metabolic process (GO:0044597)3.95904082
28polyketide metabolic process (GO:0030638)3.95904082
29doxorubicin metabolic process (GO:0044598)3.95904082
30DNA synthesis involved in DNA repair (GO:0000731)3.95558136
31regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.91240813
32telomere maintenance via recombination (GO:0000722)3.90624364
33neuron cell-cell adhesion (GO:0007158)3.84190742
34ribosomal small subunit assembly (GO:0000028)3.81369361
35exploration behavior (GO:0035640)3.79948541
36negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.79931182
37negative regulation of cell killing (GO:0031342)3.79931182
38synaptic vesicle exocytosis (GO:0016079)3.75179020
39DNA replication initiation (GO:0006270)3.73511050
40cellular protein complex disassembly (GO:0043624)3.71959838
41neuronal action potential propagation (GO:0019227)3.70810389
42replication fork processing (GO:0031297)3.69272544
43nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.67904454
44positive regulation of synapse maturation (GO:0090129)3.67894755
45glutamate secretion (GO:0014047)3.66935424
46G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.66616779
47translational elongation (GO:0006414)3.65692679
48adaptation of signaling pathway (GO:0023058)3.63130871
49detection of temperature stimulus (GO:0016048)3.60308442
50ncRNA 3-end processing (GO:0043628)3.60143613
51nucleotide-excision repair, DNA gap filling (GO:0006297)3.59336578
52kinetochore assembly (GO:0051382)3.56559660
53resolution of meiotic recombination intermediates (GO:0000712)3.55963033
54DNA strand renaturation (GO:0000733)3.55648510
55negative regulation of microtubule polymerization (GO:0031115)3.55437093
56SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.52835170
57V(D)J recombination (GO:0033151)3.52687848
58viral mRNA export from host cell nucleus (GO:0046784)3.52614211
59cotranslational protein targeting to membrane (GO:0006613)3.52580691
60DNA double-strand break processing (GO:0000729)3.51884662
61DNA ligation (GO:0006266)3.51643644
62protein targeting to ER (GO:0045047)3.50313541
63pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.48096282
64maintenance of protein location in nucleus (GO:0051457)3.47862731
65vocalization behavior (GO:0071625)3.46733922
66chromatin assembly or disassembly (GO:0006333)3.46518400
67viral life cycle (GO:0019058)3.45919626
68regulation of synaptic vesicle exocytosis (GO:2000300)3.45772589
69maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.42869422
70establishment of protein localization to endoplasmic reticulum (GO:0072599)3.42620633
71DNA duplex unwinding (GO:0032508)3.40260671
72mitotic sister chromatid segregation (GO:0000070)3.39670629
73glutamate receptor signaling pathway (GO:0007215)3.39479625
74DNA geometric change (GO:0032392)3.38555485
75dendritic spine morphogenesis (GO:0060997)3.37877384
76synapsis (GO:0007129)3.37332603
77negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.36708708
78sister chromatid segregation (GO:0000819)3.36662426
79protein complex disassembly (GO:0043241)3.36454185
80negative regulation of epidermis development (GO:0045683)3.34103292
81regulation of histone H3-K9 methylation (GO:0051570)3.34094778
82meiotic chromosome segregation (GO:0045132)3.33984400
83regulation of mitochondrial translation (GO:0070129)3.32955641
84proline transport (GO:0015824)3.32541170
85nuclear pore complex assembly (GO:0051292)3.30853000
86mitochondrion transport along microtubule (GO:0047497)3.29133197
87establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.29133197
88protein localization to chromosome, centromeric region (GO:0071459)3.28817652
89ionotropic glutamate receptor signaling pathway (GO:0035235)3.27500053
90regulation of glutamate receptor signaling pathway (GO:1900449)3.25921111
91DNA replication-dependent nucleosome organization (GO:0034723)3.25044546
92DNA replication-dependent nucleosome assembly (GO:0006335)3.25044546
93ribosomal large subunit biogenesis (GO:0042273)3.24528628
94negative regulation of RNA splicing (GO:0033119)3.24184533
95regulation of DNA endoreduplication (GO:0032875)3.24174633
96rRNA transcription (GO:0009303)3.24063097
97protein localization to endoplasmic reticulum (GO:0070972)3.24028343
98cerebellar granule cell differentiation (GO:0021707)3.22173002
99regulation of centriole replication (GO:0046599)3.20936200
100formation of translation preinitiation complex (GO:0001731)3.20923890
101nuclear pore organization (GO:0006999)3.18829936
102neuron recognition (GO:0008038)3.16289247
103sister chromatid cohesion (GO:0007062)3.16063581
104ATP-dependent chromatin remodeling (GO:0043044)3.15411232
105macromolecular complex disassembly (GO:0032984)3.13296481
106cell migration in hindbrain (GO:0021535)3.13265419
107negative regulation of DNA recombination (GO:0045910)3.12544028
108peptidyl-arginine omega-N-methylation (GO:0035247)3.11917945
109negative regulation of Ras GTPase activity (GO:0034261)3.11648162
110translational initiation (GO:0006413)3.11432659
111regulation of synaptic vesicle transport (GO:1902803)3.11192120
112establishment of mitochondrion localization (GO:0051654)3.10971280
113pre-miRNA processing (GO:0031054)3.08995569
114peptidyl-lysine dimethylation (GO:0018027)3.08436978
115maternal placenta development (GO:0001893)3.08257181
116pyrimidine nucleotide catabolic process (GO:0006244)3.07544604
117regulation of centrosome cycle (GO:0046605)3.06261600
118mRNA splice site selection (GO:0006376)3.06151130
119mitotic metaphase plate congression (GO:0007080)3.05789549
120microtubule depolymerization (GO:0007019)3.04110347
121intra-S DNA damage checkpoint (GO:0031573)3.03943332
122regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.02968705
123purine nucleobase biosynthetic process (GO:0009113)3.02319960
124regulation of centrosome duplication (GO:0010824)3.01163174
125negative regulation of mRNA processing (GO:0050686)3.00953491
126translesion synthesis (GO:0019985)2.99201619
127establishment of integrated proviral latency (GO:0075713)2.97661915
128pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.95916959
129positive regulation of histone methylation (GO:0031062)2.95706312
130behavioral defense response (GO:0002209)2.94756965
131behavioral fear response (GO:0001662)2.94756965
132neurotransmitter secretion (GO:0007269)2.94554641
133non-recombinational repair (GO:0000726)2.93619244
134double-strand break repair via nonhomologous end joining (GO:0006303)2.93619244
135DNA conformation change (GO:0071103)2.93356812
136calcium-mediated signaling using intracellular calcium source (GO:0035584)2.91655814
137regulation of response to osmotic stress (GO:0047484)2.91081700
138DNA catabolic process, exonucleolytic (GO:0000738)2.89533631
139negative regulation of DNA-dependent DNA replication (GO:2000104)2.89238035
140peptidyl-arginine methylation (GO:0018216)2.89160863
141peptidyl-arginine N-methylation (GO:0035246)2.89160863
142regulation of long-term neuronal synaptic plasticity (GO:0048169)2.87977934
143detection of temperature stimulus involved in sensory perception (GO:0050961)2.87033370
144detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.87033370
145double-strand break repair via homologous recombination (GO:0000724)2.87017066
146chromosome segregation (GO:0007059)2.86943953
147telomere maintenance via telomere lengthening (GO:0010833)2.86302359
148histone H4-K12 acetylation (GO:0043983)2.86147314
149chaperone-mediated protein transport (GO:0072321)2.85833620
150recombinational repair (GO:0000725)2.85582310
151IMP biosynthetic process (GO:0006188)2.85021402
152negative regulation of telomerase activity (GO:0051974)2.84576460
153inner ear receptor cell development (GO:0060119)2.84302747
154synaptic transmission, glutamatergic (GO:0035249)2.83916166
155chromatin assembly (GO:0031497)2.83439321
156folic acid-containing compound biosynthetic process (GO:0009396)2.83420725
157negative regulation of epidermal cell differentiation (GO:0045605)2.82845718
158deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.82408068
159microtubule severing (GO:0051013)2.82011288
160regulation of mammary gland epithelial cell proliferation (GO:0033599)2.81964222
161establishment of protein localization to mitochondrial membrane (GO:0090151)2.81874459
162nucleobase biosynthetic process (GO:0046112)2.81153049
163termination of RNA polymerase II transcription (GO:0006369)2.80870263
164regulation of histone H3-K4 methylation (GO:0051569)2.80127483
165fear response (GO:0042596)2.80075873
166positive regulation of membrane potential (GO:0045838)2.79986598
167protein K6-linked ubiquitination (GO:0085020)2.79717055
168response to dietary excess (GO:0002021)2.79000278
169histone arginine methylation (GO:0034969)2.78895111
170apoptotic DNA fragmentation (GO:0006309)2.78607816
171negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.76160834
172positive regulation of RNA splicing (GO:0033120)2.75997322
173short-term memory (GO:0007614)2.73867947
174positive regulation of neurotransmitter secretion (GO:0001956)2.70102743
175regulation of cilium movement (GO:0003352)2.67703552
176mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.67093828
177gamma-aminobutyric acid transport (GO:0015812)2.67003487
178primitive streak formation (GO:0090009)2.66671750
179regulation of neuronal synaptic plasticity (GO:0048168)2.65755427
180somite rostral/caudal axis specification (GO:0032525)2.64359357
181heterochromatin organization (GO:0070828)2.63093921
182protein targeting to membrane (GO:0006612)2.62488436
183ventricular system development (GO:0021591)2.57875358
184negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.57063593
185regulation of dendritic spine morphogenesis (GO:0061001)2.56939285
186postsynaptic membrane organization (GO:0001941)2.55671087
187G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.55133422
188protein localization to kinetochore (GO:0034501)2.54838475

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.71678439
2E2F4_17652178_ChIP-ChIP_JURKAT_Human4.67364029
3EZH2_22144423_ChIP-Seq_EOC_Human4.34790321
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.61478487
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.17977680
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.08670625
7FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.91004942
8EST1_17652178_ChIP-ChIP_JURKAT_Human2.90473177
9RBPJ_22232070_ChIP-Seq_NCS_Mouse2.87083265
10E2F1_21310950_ChIP-Seq_MCF-7_Human2.82944534
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.82754159
12JARID2_20064375_ChIP-Seq_MESCs_Mouse2.82256450
13FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.80353481
14GABP_17652178_ChIP-ChIP_JURKAT_Human2.73315717
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.71112732
16MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.70479138
17KDM2B_26808549_Chip-Seq_SUP-B15_Human2.50020965
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.46570655
19IKZF1_21737484_ChIP-ChIP_HCT116_Human2.44173290
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.43125970
21CREB1_15753290_ChIP-ChIP_HEK293T_Human2.41460947
22BP1_19119308_ChIP-ChIP_Hs578T_Human2.39869734
23EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.37934667
24MYC_18358816_ChIP-ChIP_MESCs_Mouse2.36722371
25EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.36552339
26ZFP281_18757296_ChIP-ChIP_E14_Mouse2.34023788
27THAP11_20581084_ChIP-Seq_MESCs_Mouse2.32847078
28EZH2_18974828_ChIP-Seq_MESCs_Mouse2.32101967
29RNF2_18974828_ChIP-Seq_MESCs_Mouse2.32101967
30ETS1_20019798_ChIP-Seq_JURKAT_Human2.30253872
31ERG_21242973_ChIP-ChIP_JURKAT_Human2.24664353
32SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.22026929
33RARB_27405468_Chip-Seq_BRAIN_Mouse2.20266588
34FOXP3_21729870_ChIP-Seq_TREG_Human2.17373638
35JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.17252876
36EGR1_19374776_ChIP-ChIP_THP-1_Human2.16266870
37MYC_22102868_ChIP-Seq_BL_Human2.13882465
38JARID2_20075857_ChIP-Seq_MESCs_Mouse2.12575282
39* ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.10285720
40SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.07115144
41KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.07010091
42KDM2B_26808549_Chip-Seq_DND41_Human2.06536082
43VDR_23849224_ChIP-Seq_CD4+_Human2.05298071
44* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.02126266
45ZFP281_27345836_Chip-Seq_ESCs_Mouse2.00644063
46EZH2_27304074_Chip-Seq_ESCs_Mouse2.00484609
47REST_18959480_ChIP-ChIP_MESCs_Mouse1.96290273
48DCP1A_22483619_ChIP-Seq_HELA_Human1.96185279
49KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.94758105
50KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.94758105
51KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.94758105
52MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.94079853
53* REST_21632747_ChIP-Seq_MESCs_Mouse1.93464390
54KDM2B_26808549_Chip-Seq_K562_Human1.93233420
55LXR_22292898_ChIP-Seq_THP-1_Human1.92178956
56POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.90617097
57WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.90213714
58KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.89498602
59TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.88767527
60TCF7_22412390_ChIP-Seq_EML_Mouse1.88287184
61PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.87929965
62SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.87441668
63MYCN_18555785_ChIP-Seq_MESCs_Mouse1.86225467
64MTF2_20144788_ChIP-Seq_MESCs_Mouse1.85360729
65YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.84915646
66NELFA_20434984_ChIP-Seq_ESCs_Mouse1.82932411
67* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.79166144
68* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.79048738
69RING1B_27294783_Chip-Seq_NPCs_Mouse1.77710360
70STAT6_21828071_ChIP-Seq_BEAS2B_Human1.76056496
71HOXB4_20404135_ChIP-ChIP_EML_Mouse1.74690288
72* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.74332938
73* RNF2_27304074_Chip-Seq_ESCs_Mouse1.73236090
74TP53_20018659_ChIP-ChIP_R1E_Mouse1.72873658
75* EZH2_27294783_Chip-Seq_ESCs_Mouse1.72836765
76HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.72015453
77GABP_19822575_ChIP-Seq_HepG2_Human1.70947669
78NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.70710782
79ELK1_19687146_ChIP-ChIP_HELA_Human1.68086219
80KDM2B_26808549_Chip-Seq_JURKAT_Human1.65768427
81SALL1_21062744_ChIP-ChIP_HESCs_Human1.65617574
82RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.64639009
83KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.64037596
84* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.63710646
85SRY_22984422_ChIP-ChIP_TESTIS_Rat1.63121650
86IGF1R_20145208_ChIP-Seq_DFB_Human1.58312790
87SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.57701913
88ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.57432716
89* RING1B_27294783_Chip-Seq_ESCs_Mouse1.56600847
90* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.55892039
91CIITA_25753668_ChIP-Seq_RAJI_Human1.54729520
92EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.52316680
93VDR_21846776_ChIP-Seq_THP-1_Human1.52182950
94MYC_19079543_ChIP-ChIP_MESCs_Mouse1.50407076
95* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.50060613
96MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.49800435
97ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.48301630
98SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.46840355
99ELF1_17652178_ChIP-ChIP_JURKAT_Human1.45405820
100TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.43915867
101* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.43689152
102MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.42798358
103CTCF_27219007_Chip-Seq_ERYTHROID_Human1.42507337
104ZNF263_19887448_ChIP-Seq_K562_Human1.42227591
105MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.41788136
106ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.41062259
107NOTCH1_21737748_ChIP-Seq_TLL_Human1.40983142
108TP63_19390658_ChIP-ChIP_HaCaT_Human1.40683813
109RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.40581792
110* SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.39619784
111DNAJC2_21179169_ChIP-ChIP_NT2_Human1.38240395
112YY1_21170310_ChIP-Seq_MESCs_Mouse1.36579919
113MYC_18555785_ChIP-Seq_MESCs_Mouse1.36143541
114ERG_20887958_ChIP-Seq_HPC-7_Mouse1.35800690
115NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.32561879
116ELK3_25401928_ChIP-Seq_HUVEC_Human1.32106942
117SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.31735322
118PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.30668989
119AR_21909140_ChIP-Seq_LNCAP_Human1.29927358
120HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.29861151
121SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.29582142
122CREB1_26743006_Chip-Seq_LNCaP_Human1.28479299
123POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.26002593
124SRF_21415370_ChIP-Seq_HL-1_Mouse1.24879911
125KDM5A_27292631_Chip-Seq_BREAST_Human1.23838404
126PADI4_21655091_ChIP-ChIP_MCF-7_Human1.22823707
127SMC4_20622854_ChIP-Seq_HELA_Human1.21968746
128CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.21066508
129MYC_18940864_ChIP-ChIP_HL60_Human1.20962529
130THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.20407623
131IRF1_19129219_ChIP-ChIP_H3396_Human1.19134829
132CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.18387465
133* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.17760668
134SA1_27219007_Chip-Seq_ERYTHROID_Human1.17516066
135CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.17423524
136* CTCF_21964334_Chip-Seq_Bcells_Human1.17118532
137E2F1_17053090_ChIP-ChIP_MCF-7_Human1.16569196
138* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.15346136
139SOX2_16153702_ChIP-ChIP_HESCs_Human1.14336339
140TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.12013700
141TET1_21451524_ChIP-Seq_MESCs_Mouse1.11667521
142GATA1_22025678_ChIP-Seq_K562_Human1.11483003
143EWS_26573619_Chip-Seq_HEK293_Human1.11148203
144PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.11127852
145CTCF_27219007_Chip-Seq_Bcells_Human1.10755412
146CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.10651913
147RNF2_27304074_Chip-Seq_NSC_Mouse1.09243390
148SOX3_22085726_ChIP-Seq_NPCs_Mouse1.08703960
149KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.08438923
150SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.08325926
151NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.07959155
152HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.07314120
153SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.07033819
154CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.06706052
155RACK7_27058665_Chip-Seq_MCF-7_Human1.05824078
156TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05305993
157SA1_27219007_Chip-Seq_Bcells_Human1.05298488
158NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.04369708
159* FOXP1_21924763_ChIP-Seq_HESCs_Human1.03839225
160PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.01782221
161GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.01254517
162NANOG_21062744_ChIP-ChIP_HESCs_Human1.01213253
163EED_16625203_ChIP-ChIP_MESCs_Mouse0.99784508
164FUS_26573619_Chip-Seq_HEK293_Human0.99499298
165XRN2_22483619_ChIP-Seq_HELA_Human0.99438447
166SCL_19346495_ChIP-Seq_HPC-7_Human0.96902509
167MAF_26560356_Chip-Seq_TH2_Human0.96847727
168CTCF_18555785_ChIP-Seq_MESCs_Mouse0.96174594
169DPY_21335234_ChIP-Seq_ESCs_Mouse0.95801249
170DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.95464866
171SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.94989022
172TTF2_22483619_ChIP-Seq_HELA_Human0.94700629
173P68_20966046_ChIP-Seq_HELA_Human0.94497433
174* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.94251243
175KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.92200384
176ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.86965936
177TFEB_21752829_ChIP-Seq_HELA_Human0.85421571
178POU5F1_16153702_ChIP-ChIP_HESCs_Human0.81582340
179SOX2_18555785_ChIP-Seq_MESCs_Mouse0.81017586
180SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.79407252
181NANOG_16153702_ChIP-ChIP_HESCs_Human0.77841813
182* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.75278447
183NANOG_18555785_ChIP-Seq_MESCs_Mouse0.73282302
184REST_19997604_ChIP-ChIP_NEURONS_Mouse0.68444256
185CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.66188162
186MYB_26560356_Chip-Seq_TH2_Human0.65029085
187FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.64923633

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.89969825
2MP0003880_abnormal_central_pattern4.68306152
3MP0010094_abnormal_chromosome_stability4.59159952
4MP0003111_abnormal_nucleus_morphology3.81011297
5MP0003635_abnormal_synaptic_transmissio3.32517758
6MP0003693_abnormal_embryo_hatching3.30392630
7MP0008058_abnormal_DNA_repair3.18518512
8MP0008877_abnormal_DNA_methylation3.00620379
9MP0006292_abnormal_olfactory_placode2.78138434
10MP0003077_abnormal_cell_cycle2.75928857
11MP0003122_maternal_imprinting2.74009610
12MP0002063_abnormal_learning/memory/cond2.63146924
13MP0004270_analgesia2.53739174
14MP0004858_abnormal_nervous_system2.50805818
15MP0002064_seizures2.37791004
16MP0003011_delayed_dark_adaptation2.37287006
17MP0001529_abnormal_vocalization2.37066435
18MP0003938_abnormal_ear_development2.32733845
19MP0009745_abnormal_behavioral_response2.25444834
20MP0001968_abnormal_touch/_nociception2.24981657
21MP0002009_preneoplasia2.22289905
22MP0008995_early_reproductive_senescence2.21858156
23MP0002184_abnormal_innervation2.19543601
24MP0005499_abnormal_olfactory_system2.15978143
25MP0005394_taste/olfaction_phenotype2.15978143
26MP0002572_abnormal_emotion/affect_behav2.15881498
27MP0002396_abnormal_hematopoietic_system2.13156102
28MP0009379_abnormal_foot_pigmentation2.12111143
29MP0009046_muscle_twitch2.08480533
30MP0006035_abnormal_mitochondrial_morpho2.08324092
31MP0004147_increased_porphyrin_level2.06615769
32MP0008932_abnormal_embryonic_tissue1.93880952
33MP0002272_abnormal_nervous_system1.92585151
34MP0002332_abnormal_exercise_endurance1.90416436
35MP0002733_abnormal_thermal_nociception1.88677666
36MP0005423_abnormal_somatic_nervous1.87476030
37MP0001486_abnormal_startle_reflex1.86876416
38MP0000778_abnormal_nervous_system1.80940978
39MP0003786_premature_aging1.77637649
40MP0004185_abnormal_adipocyte_glucose1.73001475
41MP0003303_peritoneal_inflammation1.71140924
42MP0002210_abnormal_sex_determination1.70591771
43MP0000955_abnormal_spinal_cord1.68046063
44MP0004142_abnormal_muscle_tone1.61823051
45MP0004811_abnormal_neuron_physiology1.61530879
46MP0003787_abnormal_imprinting1.58821134
47MP0004145_abnormal_muscle_electrophysio1.57700312
48MP0002067_abnormal_sensory_capabilities1.57036765
49MP0002734_abnormal_mechanical_nocicepti1.55258609
50MP0000350_abnormal_cell_proliferation1.54976287
51MP0002909_abnormal_adrenal_gland1.51355465
52MP0004957_abnormal_blastocyst_morpholog1.49714978
53MP0001970_abnormal_pain_threshold1.49107151
54MP0002163_abnormal_gland_morphology1.47212593
55MP0001697_abnormal_embryo_size1.46313679
56MP0003329_amyloid_beta_deposits1.45947072
57MP0001730_embryonic_growth_arrest1.44563215
58MP0002938_white_spotting1.44474379
59MP0002736_abnormal_nociception_after1.42962140
60MP0008961_abnormal_basal_metabolism1.42906116
61MP0001929_abnormal_gametogenesis1.40955257
62MP0001145_abnormal_male_reproductive1.40906970
63MP0001905_abnormal_dopamine_level1.38209241
64MP0001440_abnormal_grooming_behavior1.37536058
65MP0008569_lethality_at_weaning1.36421949
66MP0001348_abnormal_lacrimal_gland1.35909295
67MP0008770_decreased_survivor_rate1.34275811
68MP0003119_abnormal_digestive_system1.29858968
69MP0000313_abnormal_cell_death1.29781716
70MP0006072_abnormal_retinal_apoptosis1.28338019
71MP0002557_abnormal_social/conspecific_i1.27720765
72MP0003567_abnormal_fetal_cardiomyocyte1.27338060
73MP0001501_abnormal_sleep_pattern1.26797293
74MP0002066_abnormal_motor_capabilities/c1.26324873
75MP0000653_abnormal_sex_gland1.25368221
76MP0002882_abnormal_neuron_morphology1.25053501
77MP0005379_endocrine/exocrine_gland_phen1.24628362
78MP0002277_abnormal_respiratory_mucosa1.24489419
79MP0003123_paternal_imprinting1.24392374
80MP0003137_abnormal_impulse_conducting1.22456226
81MP0001672_abnormal_embryogenesis/_devel1.21248071
82MP0005380_embryogenesis_phenotype1.21248071
83MP0000703_abnormal_thymus_morphology1.20517806
84MP0006276_abnormal_autonomic_nervous1.19462103
85MP0003943_abnormal_hepatobiliary_system1.17303253
86MP0009697_abnormal_copulation1.16552559
87MP0001293_anophthalmia1.13191210
88MP0003861_abnormal_nervous_system1.12874057
89MP0003763_abnormal_thymus_physiology1.12333502
90MP0002152_abnormal_brain_morphology1.10513878
91MP0003221_abnormal_cardiomyocyte_apopto1.09924811
92MP0003698_abnormal_male_reproductive1.09773623
93MP0002085_abnormal_embryonic_tissue1.09594925
94MP0001286_abnormal_eye_development1.09386542
95MP0003984_embryonic_growth_retardation1.09201039
96MP0005645_abnormal_hypothalamus_physiol1.08831703
97MP0003890_abnormal_embryonic-extraembry1.08674298
98MP0002653_abnormal_ependyma_morphology1.07951528
99MP0005220_abnormal_exocrine_pancreas1.07910568
100MP0002088_abnormal_embryonic_growth/wei1.07087654
101MP0002080_prenatal_lethality1.06888824
102MP0002752_abnormal_somatic_nervous1.04951509
103MP0002735_abnormal_chemical_nociception1.02580483
104MP0001188_hyperpigmentation1.01115880
105MP0002102_abnormal_ear_morphology1.01080355
106MP0002084_abnormal_developmental_patter1.00837359
107MP0008007_abnormal_cellular_replicative0.99884025
108MP0002095_abnormal_skin_pigmentation0.99422119
109MP0000566_synostosis0.98507170
110MP0004808_abnormal_hematopoietic_stem0.98020379
111MP0003942_abnormal_urinary_system0.97262672
112MP0003937_abnormal_limbs/digits/tail_de0.97183725
113MP0010307_abnormal_tumor_latency0.95749069
114MP0005386_behavior/neurological_phenoty0.94901825
115MP0004924_abnormal_behavior0.94901825
116MP0008872_abnormal_physiological_respon0.94744246
117MP0008874_decreased_physiological_sensi0.94669364
118MP0001346_abnormal_lacrimal_gland0.93979033
119MP0002398_abnormal_bone_marrow0.92811851
120MP0000428_abnormal_craniofacial_morphol0.92336812
121MP0004197_abnormal_fetal_growth/weight/0.91229827
122MP0000751_myopathy0.91225996
123MP0003136_yellow_coat_color0.90297347
124MP0002114_abnormal_axial_skeleton0.89651438
125MP0003121_genomic_imprinting0.89447872
126MP0002006_tumorigenesis0.89414301
127MP0002697_abnormal_eye_size0.88730684
128MP0002160_abnormal_reproductive_system0.88422916
129MP0003656_abnormal_erythrocyte_physiolo0.87626667
130MP0001119_abnormal_female_reproductive0.87550516
131MP0002932_abnormal_joint_morphology0.85620034
132MP0000631_abnormal_neuroendocrine_gland0.85197706
133MP0000759_abnormal_skeletal_muscle0.84255370
134MP0005075_abnormal_melanosome_morpholog0.83215074
135MP0000689_abnormal_spleen_morphology0.82885794
136MP0003879_abnormal_hair_cell0.82566590
137MP0002019_abnormal_tumor_incidence0.82496520
138MP0005409_darkened_coat_color0.81893638
139MP0005389_reproductive_system_phenotype0.81845298
140MP0002722_abnormal_immune_system0.81682198
141MP0006036_abnormal_mitochondrial_physio0.81058112
142MP0000678_abnormal_parathyroid_gland0.79753578
143MP0008789_abnormal_olfactory_epithelium0.78711785
144MP0002233_abnormal_nose_morphology0.78605821
145MP0000049_abnormal_middle_ear0.77568803
146MP0009703_decreased_birth_body0.77482206
147MP0001986_abnormal_taste_sensitivity0.76993570
148MP0000747_muscle_weakness0.76418247
149MP0002081_perinatal_lethality0.75649433
150MP0009672_abnormal_birth_weight0.75591102
151MP0004264_abnormal_extraembryonic_tissu0.75226239
152MP0002229_neurodegeneration0.73950143
153MP0000358_abnormal_cell_content/0.71357870
154MP0004742_abnormal_vestibular_system0.71349524
155MP0000749_muscle_degeneration0.70541644
156MP0004510_myositis0.70498445
157MP0001764_abnormal_homeostasis0.69961316
158MP0002751_abnormal_autonomic_nervous0.69851283
159MP0002127_abnormal_cardiovascular_syste0.69147382
160MP0005623_abnormal_meninges_morphology0.68718690
161MP0001727_abnormal_embryo_implantation0.68624671
162MP0005253_abnormal_eye_physiology0.68563199
163MP0005391_vision/eye_phenotype0.68528646
164MP0000920_abnormal_myelination0.68223567
165MP0002161_abnormal_fertility/fecundity0.67420412
166MP0003385_abnormal_body_wall0.65926510
167MP0000372_irregular_coat_pigmentation0.65649536
168MP0002092_abnormal_eye_morphology0.65055243
169MP0004085_abnormal_heartbeat0.64682846
170MP0004233_abnormal_muscle_weight0.64574771
171MP0004885_abnormal_endolymph0.64017572
172MP0010769_abnormal_survival0.63752490
173MP0008057_abnormal_DNA_replication0.63498026
174MP0010768_mortality/aging0.62903538
175MP0009333_abnormal_splenocyte_physiolog0.62033098
176MP0001919_abnormal_reproductive_system0.61579947

Predicted human phenotypes

RankGene SetZ-score
1Chromosomal breakage induced by crosslinking agents (HP:0003221)4.32100596
2Bilateral microphthalmos (HP:0007633)4.26929430
3Chromsome breakage (HP:0040012)4.23439028
4Abnormality of the lower motor neuron (HP:0002366)4.19608204
5Visual hallucinations (HP:0002367)4.01769453
6Focal motor seizures (HP:0011153)3.89720357
7Myokymia (HP:0002411)3.74620021
8Amyotrophic lateral sclerosis (HP:0007354)3.61402569
9Epileptic encephalopathy (HP:0200134)3.56100492
10Atonic seizures (HP:0010819)3.50907859
11Birth length less than 3rd percentile (HP:0003561)3.46426748
12Concave nail (HP:0001598)3.45380085
13Achilles tendon contracture (HP:0001771)3.42225842
14Multiple enchondromatosis (HP:0005701)3.40256869
15Amblyopia (HP:0000646)3.36045914
16Hyperventilation (HP:0002883)3.29067115
17Rectal fistula (HP:0100590)3.25497243
18Rectovaginal fistula (HP:0000143)3.25497243
19Focal seizures (HP:0007359)3.16014757
20Abnormality of the Achilles tendon (HP:0005109)3.14222858
21Absence seizures (HP:0002121)3.09371087
22Sensory axonal neuropathy (HP:0003390)2.98377923
23Volvulus (HP:0002580)2.97122225
24Abnormality of chromosome stability (HP:0003220)2.92941856
25Supranuclear gaze palsy (HP:0000605)2.91684662
26Dialeptic seizures (HP:0011146)2.90919260
27Nephroblastoma (Wilms tumor) (HP:0002667)2.87751627
28Aplasia/Hypoplasia of the uvula (HP:0010293)2.84719193
29Hypochromic anemia (HP:0001931)2.80431941
30Ragged-red muscle fibers (HP:0003200)2.78922975
31Intestinal fistula (HP:0100819)2.78444259
32Acute lymphatic leukemia (HP:0006721)2.76351483
33Abnormality of the labia minora (HP:0012880)2.76152141
34Increased hepatocellular lipid droplets (HP:0006565)2.75554734
35Septate vagina (HP:0001153)2.75399166
36Abnormality of DNA repair (HP:0003254)2.73531741
37Progressive muscle weakness (HP:0003323)2.72597585
38Meckel diverticulum (HP:0002245)2.71918130
39Partial duplication of the phalanx of hand (HP:0009999)2.70458795
40Abnormality of cells of the erythroid lineage (HP:0012130)2.70270138
41Reticulocytopenia (HP:0001896)2.69800495
42Generalized hypotonia (HP:0001290)2.67370347
43Embryonal renal neoplasm (HP:0011794)2.66921046
44Abnormality of the phalanges of the hallux (HP:0010057)2.64379649
45Abnormality of the corticospinal tract (HP:0002492)2.59704972
46Abnormal hair whorl (HP:0010721)2.58918759
47Abnormality of the ileum (HP:0001549)2.57378464
48Status epilepticus (HP:0002133)2.55868425
49Apathy (HP:0000741)2.55492572
50Neoplasm of striated muscle (HP:0009728)2.54530607
51Abnormal lung lobation (HP:0002101)2.53980950
52Hepatoblastoma (HP:0002884)2.52354736
53Renal Fanconi syndrome (HP:0001994)2.51440256
54Abnormality of the preputium (HP:0100587)2.51224240
55Vaginal fistula (HP:0004320)2.49075100
56Triphalangeal thumb (HP:0001199)2.47555644
57Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.46438005
58Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.46231308
59Febrile seizures (HP:0002373)2.45871364
60Hemiparesis (HP:0001269)2.45122912
61Squamous cell carcinoma (HP:0002860)2.44617683
62Lipid accumulation in hepatocytes (HP:0006561)2.42853875
63Diminished motivation (HP:0000745)2.42527385
64Papilledema (HP:0001085)2.41523362
65Hyperglycinemia (HP:0002154)2.37767588
66Angiofibromas (HP:0010615)2.36852230
67Adenoma sebaceum (HP:0009720)2.36852230
68Rib fusion (HP:0000902)2.36050188
69Generalized tonic-clonic seizures (HP:0002069)2.36025273
70Abnormality of the heme biosynthetic pathway (HP:0010472)2.33109180
71Hypochromic microcytic anemia (HP:0004840)2.31471631
72Myelodysplasia (HP:0002863)2.30911103
73Partial duplication of thumb phalanx (HP:0009944)2.28952909
74Intestinal atresia (HP:0011100)2.28385084
75Respiratory difficulties (HP:0002880)2.27332400
76Cerebral inclusion bodies (HP:0100314)2.26332260
77Mutism (HP:0002300)2.24877710
78Abnormal number of erythroid precursors (HP:0012131)2.22557574
79Abnormality of the duodenum (HP:0002246)2.22115506
80Sloping forehead (HP:0000340)2.21933051
81Embryonal neoplasm (HP:0002898)2.21513310
82Basal cell carcinoma (HP:0002671)2.21462606
83Small intestinal stenosis (HP:0012848)2.20048390
84Duodenal stenosis (HP:0100867)2.20048390
85Inability to walk (HP:0002540)2.19457778
86Testicular atrophy (HP:0000029)2.17819965
87Microvesicular hepatic steatosis (HP:0001414)2.15884130
88Horizontal nystagmus (HP:0000666)2.15740871
89Poor eye contact (HP:0000817)2.14721959
90Rhabdomyosarcoma (HP:0002859)2.13233890
91Depression (HP:0000716)2.12469886
92Duplication of thumb phalanx (HP:0009942)2.11998522
93Obstructive sleep apnea (HP:0002870)2.09749626
94Ectopic kidney (HP:0000086)2.06860063
95Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.02840160
96Degeneration of the lateral corticospinal tracts (HP:0002314)2.02840160
97Pallor (HP:0000980)2.02796059
98Combined immunodeficiency (HP:0005387)2.02503654
99Abnormal social behavior (HP:0012433)2.01852755
100Impaired social interactions (HP:0000735)2.01852755
101Generalized myoclonic seizures (HP:0002123)2.01365425
102Broad-based gait (HP:0002136)2.00267690
103Ependymoma (HP:0002888)1.99896740
104Severe combined immunodeficiency (HP:0004430)1.99357307
105Increased nuchal translucency (HP:0010880)1.98779613
106Termporal pattern (HP:0011008)1.98203077
107Insidious onset (HP:0003587)1.98203077
108* Panhypogammaglobulinemia (HP:0003139)1.97195298
10911 pairs of ribs (HP:0000878)1.96847854
110Progressive external ophthalmoplegia (HP:0000590)1.96191342
111Poikiloderma (HP:0001029)1.95216832
112Delusions (HP:0000746)1.94824043
113Drooling (HP:0002307)1.94560424
114Excessive salivation (HP:0003781)1.94560424
115Macrocytic anemia (HP:0001972)1.94551681
116Neoplasm of the heart (HP:0100544)1.94472618
117Limb hypertonia (HP:0002509)1.93768261
118Cutaneous melanoma (HP:0012056)1.91871650
119Overlapping toe (HP:0001845)1.90347489
120Diastasis recti (HP:0001540)1.89736965
121Dysdiadochokinesis (HP:0002075)1.88479016
122Hyperthyroidism (HP:0000836)1.86134644
123Medulloblastoma (HP:0002885)1.85800126
124Webbed neck (HP:0000465)1.84122457
125Long clavicles (HP:0000890)1.83954690
126Progressive cerebellar ataxia (HP:0002073)1.83631422
127Abnormal number of incisors (HP:0011064)1.83362271
128Abnormality of the tricuspid valve (HP:0001702)1.82826165
129Cortical dysplasia (HP:0002539)1.80972840
130Neurofibrillary tangles (HP:0002185)1.80893872
131Reticulocytosis (HP:0001923)1.80106720
132Rapidly progressive (HP:0003678)1.80052219
133Horseshoe kidney (HP:0000085)1.79797473
134Nasal polyposis (HP:0100582)1.79728975
135Atrophy/Degeneration involving motor neurons (HP:0007373)1.79465647
136Action tremor (HP:0002345)1.79183850
137B lymphocytopenia (HP:0010976)1.78490202
138Neuroblastic tumors (HP:0004376)1.76514441
139Peripheral primitive neuroectodermal neoplasm (HP:0030067)1.76514441
140Neuroblastoma (HP:0003006)1.76514441
141Primitive neuroectodermal tumor (HP:0030065)1.76514441
142Deep palmar crease (HP:0006191)1.74199760
143Shoulder girdle muscle weakness (HP:0003547)1.73307899
144Stereotypic behavior (HP:0000733)1.73216564
145Insomnia (HP:0100785)1.72221300
146Renal duplication (HP:0000075)1.71098220
147Absent radius (HP:0003974)1.69941849
148Nephrogenic diabetes insipidus (HP:0009806)1.69504235
149Neuronal loss in central nervous system (HP:0002529)1.69375990
150Malignant neoplasm of the central nervous system (HP:0100836)1.69333399
151Preauricular skin tag (HP:0000384)1.68792086
152Rimmed vacuoles (HP:0003805)1.68261652
153Ankyloglossia (HP:0010296)1.68108167
154Absent thumb (HP:0009777)1.68017478
155Anxiety (HP:0000739)1.67555975
156Progressive inability to walk (HP:0002505)1.67510062
157Short middle phalanx of the 5th finger (HP:0004220)1.67433130
158Morphological abnormality of the pyramidal tract (HP:0002062)1.67353229
159Hypercortisolism (HP:0001578)1.67258085
160Genetic anticipation (HP:0003743)1.66835345
161Impaired vibration sensation in the lower limbs (HP:0002166)1.66747414
162Difficulty running (HP:0009046)1.66498195
163Optic nerve coloboma (HP:0000588)1.66467810
164Increased serum pyruvate (HP:0003542)1.65465906
165Abnormality of glycolysis (HP:0004366)1.65465906
166Abnormality of renal resorption (HP:0011038)1.65352104
167Cafe-au-lait spot (HP:0000957)1.64963810
168Clubbing of toes (HP:0100760)1.64465136
169Abnormality of the carotid arteries (HP:0005344)1.64280594
170Abnormality of the anterior horn cell (HP:0006802)1.63540501
171Degeneration of anterior horn cells (HP:0002398)1.63540501
172Gait imbalance (HP:0002141)1.62685396
173Colon cancer (HP:0003003)1.62270187
174Preaxial hand polydactyly (HP:0001177)1.62194228
175Gonadal dysgenesis (HP:0000133)1.60735023
176True hermaphroditism (HP:0010459)1.59426536
177* Recurrent viral infections (HP:0004429)1.58541023
178Postaxial foot polydactyly (HP:0001830)1.58259768
179Lymphoma (HP:0002665)1.58257154
180Supernumerary spleens (HP:0009799)1.58206233
181Missing ribs (HP:0000921)1.57992561
182Abnormality of the antihelix (HP:0009738)1.56084620
183Osteomalacia (HP:0002749)1.54211779
184Absent forearm bone (HP:0003953)1.53911381
185Aplasia involving forearm bones (HP:0009822)1.53911381
186Acanthocytosis (HP:0001927)1.53850704
187Aplasia/Hypoplasia of the thymus (HP:0010515)1.53653611
188Bone marrow hypocellularity (HP:0005528)1.52935711
189Abnormality of chromosome segregation (HP:0002916)1.49469204
190Congenital primary aphakia (HP:0007707)1.49101125

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.08448095
2GRK54.30147194
3GRK63.41729400
4MAP3K93.38010831
5MOS3.12557961
6SRPK12.98437601
7BRSK22.98274911
8TTK2.67151294
9SIK22.63398375
10PAK62.61952757
11TYRO32.59293143
12PASK2.47780979
13PLK42.34073756
14GRK72.18526732
15KSR22.16243998
16MARK12.14963805
17VRK22.14297162
18WEE12.13465149
19EIF2AK12.09471353
20EIF2AK32.05454550
21MAP2K42.05093431
22PBK2.00322590
23NTRK31.99076322
24NEK91.92691061
25CDK121.92418831
26TAF11.90274783
27CDK191.87211655
28MAP3K101.79619042
29MKNK11.79043274
30ADRBK21.78967499
31BUB11.77772797
32DYRK31.75280253
33NTRK11.74455531
34ATR1.73795800
35BRSK11.71729949
36MINK11.68671128
37WNK31.67577835
38EPHA41.65406685
39BRD41.64127428
40MAPKAPK51.62563933
41ZAK1.56143779
42PHKG11.53368529
43PHKG21.53368529
44MAP3K41.51289743
45LATS21.48490245
46TLK11.48191577
47PLK11.47628003
48ERN11.47520799
49MARK21.45823073
50MAP3K61.38116315
51UHMK11.36410628
52VRK11.34865094
53CDK41.33101193
54PLK31.26747972
55WNK11.26454157
56CHEK11.25880952
57TGFBR21.22240595
58SMG11.21270097
59BRAF1.19384701
60ALK1.18981384
61TAOK11.18029079
62SCYL21.17793728
63CASK1.15843452
64ATM1.15237671
65ADRBK11.15208339
66HIPK21.12639103
67STK101.12281493
68NME11.10660206
69FES1.06444867
70AURKB1.06185394
71KSR11.02442596
72MAP3K121.01825761
73CSF1R1.01662386
74EIF2AK20.99365991
75IRAK20.99260527
76CDK150.98589037
77CDK140.98007100
78CDK11A0.93412557
79MAPK120.93051749
80NTRK20.92447659
81NME20.92178828
82CDK180.91413209
83WNK40.91346803
84STK110.88457552
85BLK0.88200252
86NUAK10.87095777
87GRK10.86427203
88RPS6KB20.86280675
89MATK0.85066583
90FGR0.84215653
91RIPK40.84215242
92KIT0.84157704
93CDK50.83698397
94MARK30.83257886
95RAF10.83201794
96CDK70.83189756
97CDK20.82550222
98TRIB30.79115415
99DYRK20.76543578
100MAP3K70.75393511
101MAP3K110.74917261
102BCKDK0.74609207
103MAP2K70.74165142
104RPS6KA50.73627509
105STK40.73617497
106CDK10.71813565
107MAP3K130.70521455
108PRKD20.69919641
109PNCK0.69420229
110DAPK20.68537700
111TRIM280.67956254
112CDK30.66991687
113NEK10.66852376
114MAPK130.65291450
115DYRK1A0.65010071
116CAMK40.63964243
117YES10.62622772
118CSNK2A20.61423167
119PRKCG0.61239357
120PRKDC0.60448025
121TNIK0.59692639
122STK30.59583117
123PRPF4B0.58247780
124PRKD30.57721949
125PAK30.57515385
126MAPK70.55806097
127PAK10.55623339
128AURKA0.54823605
129TSSK60.53838741
130PKN10.53590940
131PIM10.50677510
132DYRK1B0.50410478
133CDK80.49769251
134CSNK2A10.49584440
135LIMK10.49487572
136PDK10.47765771
137RET0.46489458
138CLK10.46471494
139ILK0.46226051
140STK380.43601075
141NEK20.43465225
142PRKCQ0.43379028
143CAMK10.42401298
144CAMK2A0.40346682
145CHEK20.40020124
146DAPK30.39974069
147RPS6KA10.39533012
148ARAF0.38932226
149MAP3K80.38868320
150CDK60.38663174
151CSNK1E0.38074090
152TXK0.38046884
153GSK3B0.37611009
154MKNK20.37404247
155EEF2K0.36391098
156TNK20.36039368
157TAOK30.35736468
158STK240.35615843
159PAK20.35399016
160MAPK40.35309927
161AKT10.35252172
162ROCK20.35021015
163MAPK140.34964542
164CCNB10.33529009
165RPS6KB10.33050931
166RPS6KC10.32922717
167RPS6KL10.32922717
168SYK0.32770373

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034304.09734882
2Homologous recombination_Homo sapiens_hsa034403.86543381
3Base excision repair_Homo sapiens_hsa034103.26898109
4Nucleotide excision repair_Homo sapiens_hsa034203.20237986
5Fanconi anemia pathway_Homo sapiens_hsa034603.14848923
6Ribosome_Homo sapiens_hsa030103.13700917
7Sulfur relay system_Homo sapiens_hsa041222.94181434
8Nicotine addiction_Homo sapiens_hsa050332.80362338
9Non-homologous end-joining_Homo sapiens_hsa034502.78116503
10Cell cycle_Homo sapiens_hsa041102.75453062
11Long-term potentiation_Homo sapiens_hsa047202.74266368
12One carbon pool by folate_Homo sapiens_hsa006702.71467301
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.61983555
14RNA transport_Homo sapiens_hsa030132.43013297
15Long-term depression_Homo sapiens_hsa047302.25904389
16Glutamatergic synapse_Homo sapiens_hsa047242.23020575
17Basal transcription factors_Homo sapiens_hsa030222.19546107
18RNA polymerase_Homo sapiens_hsa030202.16561065
19Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.13860656
20GABAergic synapse_Homo sapiens_hsa047272.00538222
21Synaptic vesicle cycle_Homo sapiens_hsa047211.93377443
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.93256936
23Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.90088481
24RNA degradation_Homo sapiens_hsa030181.89212827
25Dopaminergic synapse_Homo sapiens_hsa047281.83532205
26Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.74951072
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.74360287
28Cardiac muscle contraction_Homo sapiens_hsa042601.74140542
29Protein export_Homo sapiens_hsa030601.73342725
30Salivary secretion_Homo sapiens_hsa049701.73286024
31Renin secretion_Homo sapiens_hsa049241.70257219
32Pyrimidine metabolism_Homo sapiens_hsa002401.67682496
33GnRH signaling pathway_Homo sapiens_hsa049121.67424366
34Amphetamine addiction_Homo sapiens_hsa050311.64803878
35Circadian entrainment_Homo sapiens_hsa047131.63206900
36Oxytocin signaling pathway_Homo sapiens_hsa049211.62979364
37VEGF signaling pathway_Homo sapiens_hsa043701.59476444
38Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.59158707
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.53068210
40Serotonergic synapse_Homo sapiens_hsa047261.49633676
41Gap junction_Homo sapiens_hsa045401.47923782
42Alzheimers disease_Homo sapiens_hsa050101.47489656
43Morphine addiction_Homo sapiens_hsa050321.43271605
44Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.41643992
45Calcium signaling pathway_Homo sapiens_hsa040201.40729483
46Glioma_Homo sapiens_hsa052141.40482781
47Aldosterone synthesis and secretion_Homo sapiens_hsa049251.40263267
48Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.39770614
49Parkinsons disease_Homo sapiens_hsa050121.35737246
50Phospholipase D signaling pathway_Homo sapiens_hsa040721.31458002
51Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.30325084
52Oxidative phosphorylation_Homo sapiens_hsa001901.29876495
53* Primary immunodeficiency_Homo sapiens_hsa053401.29633113
54Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.28683306
55Axon guidance_Homo sapiens_hsa043601.25488024
56Estrogen signaling pathway_Homo sapiens_hsa049151.24330402
57Folate biosynthesis_Homo sapiens_hsa007901.23026388
58Oocyte meiosis_Homo sapiens_hsa041141.21612671
59Gastric acid secretion_Homo sapiens_hsa049711.20935320
60Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.18335718
61ErbB signaling pathway_Homo sapiens_hsa040121.18154169
62Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.17171148
63Cholinergic synapse_Homo sapiens_hsa047251.14710078
64Propanoate metabolism_Homo sapiens_hsa006401.12741353
65Purine metabolism_Homo sapiens_hsa002301.12034048
66Olfactory transduction_Homo sapiens_hsa047401.11249407
67Melanogenesis_Homo sapiens_hsa049161.10450461
68mTOR signaling pathway_Homo sapiens_hsa041501.09185425
69Taste transduction_Homo sapiens_hsa047421.08656555
70Sphingolipid signaling pathway_Homo sapiens_hsa040711.07168583
71Neurotrophin signaling pathway_Homo sapiens_hsa047221.03678457
72Proteasome_Homo sapiens_hsa030501.02849501
73Huntingtons disease_Homo sapiens_hsa050161.00402355
74Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00372625
75Renal cell carcinoma_Homo sapiens_hsa052110.98775126
76Bladder cancer_Homo sapiens_hsa052190.98343485
77Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.96495374
78Vascular smooth muscle contraction_Homo sapiens_hsa042700.95275899
79Non-small cell lung cancer_Homo sapiens_hsa052230.94572087
80Insulin secretion_Homo sapiens_hsa049110.92969792
81Thyroid cancer_Homo sapiens_hsa052160.92892765
82cAMP signaling pathway_Homo sapiens_hsa040240.92823230
83Vitamin B6 metabolism_Homo sapiens_hsa007500.91008727
84mRNA surveillance pathway_Homo sapiens_hsa030150.90981955
85p53 signaling pathway_Homo sapiens_hsa041150.86629187
86B cell receptor signaling pathway_Homo sapiens_hsa046620.86328156
87Choline metabolism in cancer_Homo sapiens_hsa052310.85581147
88cGMP-PKG signaling pathway_Homo sapiens_hsa040220.84495515
89Central carbon metabolism in cancer_Homo sapiens_hsa052300.83621504
90MAPK signaling pathway_Homo sapiens_hsa040100.82816689
91Cocaine addiction_Homo sapiens_hsa050300.81861224
92Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.79435146
93Phosphatidylinositol signaling system_Homo sapiens_hsa040700.76549126
94Wnt signaling pathway_Homo sapiens_hsa043100.76474174
95Fructose and mannose metabolism_Homo sapiens_hsa000510.73726856
96Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.70842073
97Steroid biosynthesis_Homo sapiens_hsa001000.69714646
98Rap1 signaling pathway_Homo sapiens_hsa040150.69279407
99Fatty acid elongation_Homo sapiens_hsa000620.68654639
100Selenocompound metabolism_Homo sapiens_hsa004500.68155019
101Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.65233695
102Epstein-Barr virus infection_Homo sapiens_hsa051690.65071512
103Viral carcinogenesis_Homo sapiens_hsa052030.63997139
104Prion diseases_Homo sapiens_hsa050200.61626691
105Hedgehog signaling pathway_Homo sapiens_hsa043400.60195213
106Ras signaling pathway_Homo sapiens_hsa040140.60027160
107T cell receptor signaling pathway_Homo sapiens_hsa046600.58568510
108Inositol phosphate metabolism_Homo sapiens_hsa005620.57640357
109Dorso-ventral axis formation_Homo sapiens_hsa043200.57329830
110Acute myeloid leukemia_Homo sapiens_hsa052210.56904778
111Melanoma_Homo sapiens_hsa052180.56561867
112Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.56386433
113Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.55773551
114Spliceosome_Homo sapiens_hsa030400.55312372
115Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.54877525
116N-Glycan biosynthesis_Homo sapiens_hsa005100.53454082
117Pyruvate metabolism_Homo sapiens_hsa006200.52724130
118Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.51610533
119Regulation of actin cytoskeleton_Homo sapiens_hsa048100.51303845
120Insulin signaling pathway_Homo sapiens_hsa049100.50093584
121Regulation of autophagy_Homo sapiens_hsa041400.50084398
122Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.50004354
123Alcoholism_Homo sapiens_hsa050340.49921851
124Basal cell carcinoma_Homo sapiens_hsa052170.48953380
125DNA replication_Homo sapiens_hsa030300.48452118
126Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48023135
127Chronic myeloid leukemia_Homo sapiens_hsa052200.46913130
128Endometrial cancer_Homo sapiens_hsa052130.43946127
129Endocytosis_Homo sapiens_hsa041440.43501481
130Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43009576
131Colorectal cancer_Homo sapiens_hsa052100.42565864
132HTLV-I infection_Homo sapiens_hsa051660.42060902
133Lysine degradation_Homo sapiens_hsa003100.41592799
134Carbon metabolism_Homo sapiens_hsa012000.41407153
135Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.41175138
136Transcriptional misregulation in cancer_Homo sapiens_hsa052020.40360698
137Cysteine and methionine metabolism_Homo sapiens_hsa002700.39876058
138AMPK signaling pathway_Homo sapiens_hsa041520.39653273
139Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38969480
140Chemokine signaling pathway_Homo sapiens_hsa040620.37630258
141Galactose metabolism_Homo sapiens_hsa000520.37313819
142Glucagon signaling pathway_Homo sapiens_hsa049220.36984128
143Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35165588
144Platelet activation_Homo sapiens_hsa046110.33682145
145Prostate cancer_Homo sapiens_hsa052150.33197597
146Dilated cardiomyopathy_Homo sapiens_hsa054140.32902077
147Measles_Homo sapiens_hsa051620.32539774
148Hepatitis B_Homo sapiens_hsa051610.31060394
149Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.30334057
150Pancreatic cancer_Homo sapiens_hsa052120.29065400
151Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.29031260
152Herpes simplex infection_Homo sapiens_hsa051680.28801307
153Systemic lupus erythematosus_Homo sapiens_hsa053220.27822715
154Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.27397318
155Butanoate metabolism_Homo sapiens_hsa006500.27160607
156Nitrogen metabolism_Homo sapiens_hsa009100.26646371
157Fatty acid metabolism_Homo sapiens_hsa012120.26129224
158MicroRNAs in cancer_Homo sapiens_hsa052060.24456682
159Metabolic pathways_Homo sapiens_hsa011000.23366055
160Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.23064665
161Biosynthesis of amino acids_Homo sapiens_hsa012300.21969308
162Maturity onset diabetes of the young_Homo sapiens_hsa049500.20637215
163Prolactin signaling pathway_Homo sapiens_hsa049170.20316227
164Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.20132413
165Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.18518716
166Glycerophospholipid metabolism_Homo sapiens_hsa005640.14819826
1672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.13533276

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