CIB2

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 is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1viral transcription (GO:0019083)4.43298817
2neuronal action potential propagation (GO:0019227)4.28931380
3heterochromatin organization (GO:0070828)4.28177661
4translational termination (GO:0006415)4.25442732
5L-serine metabolic process (GO:0006563)4.22775639
6mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.22036794
7regulation of sequestering of triglyceride (GO:0010889)4.21334596
8paraxial mesoderm development (GO:0048339)4.20052615
9carnitine shuttle (GO:0006853)4.16953648
10ribosomal small subunit assembly (GO:0000028)4.08351344
11proline transport (GO:0015824)4.00494519
12fatty acid transmembrane transport (GO:1902001)3.87385326
13ribosomal small subunit biogenesis (GO:0042274)3.86949396
14NADH metabolic process (GO:0006734)3.81872062
15maturation of SSU-rRNA (GO:0030490)3.70251870
16respiratory electron transport chain (GO:0022904)3.68508617
17regulation of cAMP-dependent protein kinase activity (GO:2000479)3.65322599
18electron transport chain (GO:0022900)3.62060348
19convergent extension (GO:0060026)3.61675596
20mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.58637103
21outer ear morphogenesis (GO:0042473)3.57105092
22translational elongation (GO:0006414)3.56645067
23nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.51609980
24succinate metabolic process (GO:0006105)3.50852516
25regulation of gene silencing by RNA (GO:0060966)3.44560484
26regulation of posttranscriptional gene silencing (GO:0060147)3.44560484
27regulation of gene silencing by miRNA (GO:0060964)3.44560484
28activation of protein kinase A activity (GO:0034199)3.44006602
29SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.41184782
30sarcoplasmic reticulum calcium ion transport (GO:0070296)3.40755222
31energy coupled proton transport, down electrochemical gradient (GO:0015985)3.39302605
32ATP synthesis coupled proton transport (GO:0015986)3.39302605
33triglyceride catabolic process (GO:0019433)3.38281811
34DNA unwinding involved in DNA replication (GO:0006268)3.37899774
35cellular protein complex disassembly (GO:0043624)3.37856992
36synaptic vesicle exocytosis (GO:0016079)3.37271003
37cotranslational protein targeting to membrane (GO:0006613)3.33792227
38protein complex disassembly (GO:0043241)3.32663663
39protein-DNA complex disassembly (GO:0032986)3.31602158
40nucleosome disassembly (GO:0006337)3.31602158
41viral life cycle (GO:0019058)3.31565408
42planar cell polarity pathway involved in neural tube closure (GO:0090179)3.30563529
43protein targeting to ER (GO:0045047)3.30470970
44chaperone-mediated protein transport (GO:0072321)3.30251407
45biotin metabolic process (GO:0006768)3.29146947
46brown fat cell differentiation (GO:0050873)3.27083239
47regulation of acyl-CoA biosynthetic process (GO:0050812)3.24985675
48tricarboxylic acid cycle (GO:0006099)3.21049437
49establishment of protein localization to endoplasmic reticulum (GO:0072599)3.18925241
50acylglycerol catabolic process (GO:0046464)3.18221331
51neutral lipid catabolic process (GO:0046461)3.18221331
52establishment of integrated proviral latency (GO:0075713)3.17628556
53lipid particle organization (GO:0034389)3.17434363
54carnitine transmembrane transport (GO:1902603)3.17430145
55macromolecular complex disassembly (GO:0032984)3.15142290
56regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.10829737
57regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.10648744
58protein localization to endoplasmic reticulum (GO:0070972)3.05280180
59positive regulation of fatty acid oxidation (GO:0046321)3.04378358
60translational initiation (GO:0006413)3.04080073
61histone arginine methylation (GO:0034969)2.99998338
62regulation of protein kinase A signaling (GO:0010738)2.97816719
63regulation of coenzyme metabolic process (GO:0051196)2.94551437
64regulation of cofactor metabolic process (GO:0051193)2.94551437
65response to dietary excess (GO:0002021)2.94310912
66regulation of short-term neuronal synaptic plasticity (GO:0048172)2.92622256
67neuron cell-cell adhesion (GO:0007158)2.91368395
68positive regulation of vesicle fusion (GO:0031340)2.90850744
69vocalization behavior (GO:0071625)2.90298012
70positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.88875136
71chromatin remodeling at centromere (GO:0031055)2.88296496
72serine family amino acid biosynthetic process (GO:0009070)2.84399504
73amino-acid betaine transport (GO:0015838)2.83432204
74carnitine transport (GO:0015879)2.83432204
75alanine transport (GO:0032328)2.82957792
76white fat cell differentiation (GO:0050872)2.82435812
77positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.82247177
78pyrimidine nucleobase catabolic process (GO:0006208)2.81329210
79regulation of oxidative phosphorylation (GO:0002082)2.78971421
80lung-associated mesenchyme development (GO:0060484)2.78709703
81glycogen catabolic process (GO:0005980)2.77793602
82regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.77155950
83DNA replication checkpoint (GO:0000076)2.75876541
84neuromuscular synaptic transmission (GO:0007274)2.74207805
85cellular response to epinephrine stimulus (GO:0071872)2.73685195
86positive regulation of fatty acid beta-oxidation (GO:0032000)2.73465205
87low-density lipoprotein particle clearance (GO:0034383)2.73279836
88regulation of vesicle fusion (GO:0031338)2.73270052
89regulation of fatty acid oxidation (GO:0046320)2.71492584
90detection of calcium ion (GO:0005513)2.70118681
91regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.69943824
92glycine transport (GO:0015816)2.69642301
93positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.68745343
94response to misfolded protein (GO:0051788)2.68488274
95pre-miRNA processing (GO:0031054)2.67977253
96DNA strand elongation involved in DNA replication (GO:0006271)2.65601435
97peptidyl-arginine omega-N-methylation (GO:0035247)2.64942877
98regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.64635543
99regulation of synaptic vesicle exocytosis (GO:2000300)2.64516719
100branched-chain amino acid catabolic process (GO:0009083)2.61353364
101protein complex localization (GO:0031503)2.59620815
102DNA damage response, detection of DNA damage (GO:0042769)2.59559891
103establishment of viral latency (GO:0019043)2.59540027
104CENP-A containing nucleosome assembly (GO:0034080)2.59132516
105thalamus development (GO:0021794)2.57228958
106establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.56223515
107negative regulation of gene silencing (GO:0060969)2.56139423
108neuron recognition (GO:0008038)2.56118712
109fatty acid beta-oxidation (GO:0006635)2.55950719
110glucan catabolic process (GO:0009251)2.55856393
111regulation of cell communication by electrical coupling (GO:0010649)2.54077369
112skeletal muscle contraction (GO:0003009)2.54064132
113regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.53427635
114regulation of skeletal muscle contraction (GO:0014819)2.52690322
115establishment of mitochondrion localization (GO:0051654)2.52592077
116establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.52331944
117mitochondrion transport along microtubule (GO:0047497)2.52331944
118glycerolipid catabolic process (GO:0046503)2.52224620
119glucan biosynthetic process (GO:0009250)2.50140180
120glycogen biosynthetic process (GO:0005978)2.50140180
121regulation of cell fate specification (GO:0042659)2.49928076
122neurotransmitter secretion (GO:0007269)2.49846036
123chromatin assembly (GO:0031497)2.49597829
124DNA strand elongation (GO:0022616)2.48952640
125response to pheromone (GO:0019236)2.48120696
126chromosome condensation (GO:0030261)2.47681607
127calcium-mediated signaling using intracellular calcium source (GO:0035584)2.47559576
128regulation of glutamate receptor signaling pathway (GO:1900449)2.47287367
129fatty acid catabolic process (GO:0009062)2.47073912
130response to gravity (GO:0009629)2.46846256
131mesenchymal to epithelial transition (GO:0060231)2.46453125
132postsynaptic membrane organization (GO:0001941)2.46357503
133response to epinephrine (GO:0071871)2.46348077
134ATP hydrolysis coupled proton transport (GO:0015991)2.44391679
135energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.44391679
136negative regulation of appetite (GO:0032099)2.44215446
137negative regulation of response to food (GO:0032096)2.44215446
138regulation of glycogen (starch) synthase activity (GO:2000465)2.43934031
139branched-chain amino acid metabolic process (GO:0009081)2.43007005
140mating behavior (GO:0007617)2.42973898
141ATP-dependent chromatin remodeling (GO:0043044)2.41851085
142synaptic vesicle maturation (GO:0016188)2.41656784
143glutamate secretion (GO:0014047)2.41480081
144protein localization to synapse (GO:0035418)2.40370808
145triglyceride biosynthetic process (GO:0019432)2.39884637
146nuclear-transcribed mRNA catabolic process (GO:0000956)2.38834314
147notochord development (GO:0030903)2.38581078
148DNA replication initiation (GO:0006270)2.38425858
149Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.38257482
150skeletal muscle fiber development (GO:0048741)2.38210293
151regulation of synaptic vesicle transport (GO:1902803)2.37816719
152regulation of helicase activity (GO:0051095)2.37333545
153negative regulation of amino acid transport (GO:0051956)2.36613811
154protein localization to kinetochore (GO:0034501)2.36018883
155protein targeting to membrane (GO:0006612)2.35878550
156mitotic chromosome condensation (GO:0007076)2.35044945
157cell migration in hindbrain (GO:0021535)2.34751544
158negative regulation of cAMP-mediated signaling (GO:0043951)2.34204243
159regulation of mitochondrial translation (GO:0070129)2.34053238
160regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.33821666
161valine metabolic process (GO:0006573)2.33131770
162suckling behavior (GO:0001967)2.33113756
163histone exchange (GO:0043486)2.33049408
164acylglycerol biosynthetic process (GO:0046463)2.32625789
165neutral lipid biosynthetic process (GO:0046460)2.32625789
166pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.31619457
167energy reserve metabolic process (GO:0006112)2.31257056
168axonal fasciculation (GO:0007413)2.31109812
169pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)2.30832356
170regulation of establishment of planar polarity (GO:0090175)2.30258915
171long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.30203096
172peptidyl-arginine methylation (GO:0018216)2.29949298
173peptidyl-arginine N-methylation (GO:0035246)2.29949298
174fatty-acyl-CoA metabolic process (GO:0035337)2.29770141
175establishment or maintenance of monopolar cell polarity (GO:0061339)2.29470137
176establishment of monopolar cell polarity (GO:0061162)2.29470137
177translation (GO:0006412)2.28033289
178generation of precursor metabolites and energy (GO:0006091)2.27758760
179DNA replication-independent nucleosome organization (GO:0034724)2.26899771
180DNA replication-independent nucleosome assembly (GO:0006336)2.26899771
181mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.26755093
182homocysteine metabolic process (GO:0050667)2.24623627
183mRNA catabolic process (GO:0006402)2.24363434
184protein localization to chromosome, centromeric region (GO:0071459)2.24067656
185kinetochore assembly (GO:0051382)2.23746474
186ribosomal large subunit biogenesis (GO:0042273)2.22503116
187establishment of protein localization to mitochondrial membrane (GO:0090151)2.21509970
188oxidative phosphorylation (GO:0006119)2.21344276
189negative regulation of androgen receptor signaling pathway (GO:0060766)2.20906342
190muscle cell fate commitment (GO:0042693)2.19814618
191pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.19687391
192cochlea morphogenesis (GO:0090103)2.18924880
193cranial nerve morphogenesis (GO:0021602)2.18841953
194chromatin assembly or disassembly (GO:0006333)2.17819201
195protein neddylation (GO:0045116)2.17075459
196regulation of translational fidelity (GO:0006450)2.16949334
197negative regulation of telomerase activity (GO:0051974)2.16872768

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.10401229
2E2F7_22180533_ChIP-Seq_HELA_Human4.58412964
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.52733814
4TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.57765098
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.14940031
6SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.82919790
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.73799601
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.70243470
9JARID2_20064375_ChIP-Seq_MESCs_Mouse2.68041501
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62394284
11GBX2_23144817_ChIP-Seq_PC3_Human2.56085056
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.51887824
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.49546001
14EZH2_18974828_ChIP-Seq_MESCs_Mouse2.44976420
15RNF2_18974828_ChIP-Seq_MESCs_Mouse2.44976420
16SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.39448776
17EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.36576860
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.34779755
19MYC_19079543_ChIP-ChIP_MESCs_Mouse2.33052942
20* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.32352594
21ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.31548395
22MTF2_20144788_ChIP-Seq_MESCs_Mouse2.28834637
23XRN2_22483619_ChIP-Seq_HELA_Human2.24780613
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.24002283
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.21991538
26THAP11_20581084_ChIP-Seq_MESCs_Mouse2.18849367
27MYC_18358816_ChIP-ChIP_MESCs_Mouse2.11844622
28EZH2_27294783_Chip-Seq_ESCs_Mouse2.06817819
29POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.06380895
30FOXM1_23109430_ChIP-Seq_U2OS_Human2.04600055
31SUZ12_27294783_Chip-Seq_ESCs_Mouse2.01829039
32RBPJ_22232070_ChIP-Seq_NCS_Mouse1.97493638
33MYC_19030024_ChIP-ChIP_MESCs_Mouse1.94557918
34REST_21632747_ChIP-Seq_MESCs_Mouse1.94523663
35AR_21572438_ChIP-Seq_LNCaP_Human1.94362305
36TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93215302
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.88707179
38KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.87970087
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.86211000
40TP63_19390658_ChIP-ChIP_HaCaT_Human1.85792511
41CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.83785200
42TAF15_26573619_Chip-Seq_HEK293_Human1.82709049
43CTBP2_25329375_ChIP-Seq_LNCAP_Human1.81405961
44BMI1_23680149_ChIP-Seq_NPCS_Mouse1.81076683
45POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.79521765
46RNF2_27304074_Chip-Seq_ESCs_Mouse1.77682426
47DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.77581390
48ZFP281_18757296_ChIP-ChIP_E14_Mouse1.75754868
49E2F4_17652178_ChIP-ChIP_JURKAT_Human1.75383896
50ZNF274_21170338_ChIP-Seq_K562_Hela1.74916794
51TTF2_22483619_ChIP-Seq_HELA_Human1.73778970
52ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.73596726
53SOX2_18555785_ChIP-Seq_MESCs_Mouse1.71911063
54SOX2_16153702_ChIP-ChIP_HESCs_Human1.71620348
55* CDX2_19796622_ChIP-Seq_MESCs_Mouse1.68615395
56FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.65154128
57REST_18959480_ChIP-ChIP_MESCs_Mouse1.64802706
58ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.62208774
59CREB1_15753290_ChIP-ChIP_HEK293T_Human1.61413274
60JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.59173324
61CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.59166003
62CBX2_27304074_Chip-Seq_ESCs_Mouse1.59159002
63DROSHA_22980978_ChIP-Seq_HELA_Human1.56782372
64ETS1_20019798_ChIP-Seq_JURKAT_Human1.52874405
65KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.51827682
66PIAS1_25552417_ChIP-Seq_VCAP_Human1.49006433
67ZFP57_27257070_Chip-Seq_ESCs_Mouse1.48966487
68NR3C1_23031785_ChIP-Seq_PC12_Mouse1.48730692
69ERG_21242973_ChIP-ChIP_JURKAT_Human1.47693938
70PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.46612950
71POU5F1_16153702_ChIP-ChIP_HESCs_Human1.46495192
72POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.45748391
73E2F1_18555785_ChIP-Seq_MESCs_Mouse1.42375935
74TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38462099
75MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.37415177
76YY1_21170310_ChIP-Seq_MESCs_Mouse1.35348511
77P300_19829295_ChIP-Seq_ESCs_Human1.33993369
78EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.33834276
79BCAT_22108803_ChIP-Seq_LS180_Human1.33575632
80AR_25329375_ChIP-Seq_VCAP_Human1.33397080
81NELFA_20434984_ChIP-Seq_ESCs_Mouse1.33114907
82VDR_22108803_ChIP-Seq_LS180_Human1.31116356
83SMAD4_21799915_ChIP-Seq_A2780_Human1.30609062
84NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.30105523
85IGF1R_20145208_ChIP-Seq_DFB_Human1.29852512
86NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.29767377
87NANOG_16153702_ChIP-ChIP_HESCs_Human1.29136078
88NANOG_18555785_ChIP-Seq_MESCs_Mouse1.28784162
89TET1_21451524_ChIP-Seq_MESCs_Mouse1.28122215
90CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.26667606
91MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.26465639
92GATA1_26923725_Chip-Seq_HPCs_Mouse1.26285662
93E2F1_21310950_ChIP-Seq_MCF-7_Human1.26091106
94RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.25606799
95ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.25082151
96PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.25018408
97STAT6_21828071_ChIP-Seq_BEAS2B_Human1.24209458
98NANOG_21062744_ChIP-ChIP_HESCs_Human1.23657178
99MYCN_18555785_ChIP-Seq_MESCs_Mouse1.23545709
100ZFX_18555785_ChIP-Seq_MESCs_Mouse1.22880251
101HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.22788242
102RARB_27405468_Chip-Seq_BRAIN_Mouse1.22358304
103EST1_17652178_ChIP-ChIP_JURKAT_Human1.21261473
104NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.21189240
105SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.20972178
106SOX2_18692474_ChIP-Seq_MEFs_Mouse1.17912265
107TCF3_18692474_ChIP-Seq_MEFs_Mouse1.17179275
108MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.16122281
109SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.15447108
110UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.15333362
111SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15162808
112PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.15039308
113CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.13046037
114POU3F2_20337985_ChIP-ChIP_501MEL_Human1.12995892
115KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.12906987
116KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.12906987
117KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.12906987
118* FOXP1_21924763_ChIP-Seq_HESCs_Human1.12771979
119GABP_17652178_ChIP-ChIP_JURKAT_Human1.12531171
120KLF4_18555785_ChIP-Seq_MESCs_Mouse1.12232989
121FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.11229579
122OCT4_18692474_ChIP-Seq_MEFs_Mouse1.11173455
123IKZF1_21737484_ChIP-ChIP_HCT116_Human1.11085024
124SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.10378558
125GABP_19822575_ChIP-Seq_HepG2_Human1.10361797
126POU5F1_16518401_ChIP-PET_MESCs_Mouse1.10351144
127* SOX2_21211035_ChIP-Seq_LN229_Gbm1.10171760
128NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.09483052
129SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09230184
130* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.08809422
131CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.08097267
132RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07854084
133TP53_20018659_ChIP-ChIP_R1E_Mouse1.07602301
134* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.06761526
135* CBP_20019798_ChIP-Seq_JUKART_Human1.06761526
136SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.05877815
137CTCF_18555785_ChIP-Seq_MESCs_Mouse1.05765539
138OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05360247
139YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.04999728
140SRY_22984422_ChIP-ChIP_TESTIS_Rat1.04109583
141LXR_22292898_ChIP-Seq_THP-1_Human1.03665418
142CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.03222265
143TP53_18474530_ChIP-ChIP_U2OS_Human1.02719767
144POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.02311028
145SMAD3_21741376_ChIP-Seq_EPCs_Human1.01932729
146GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01300303
147CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.00775548
148BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.00194085
149ER_23166858_ChIP-Seq_MCF-7_Human0.99807569
150SOX2_18692474_ChIP-Seq_MESCs_Mouse0.99084038
151RING1B_27294783_Chip-Seq_ESCs_Mouse0.97758786
152RNF2_27304074_Chip-Seq_NSC_Mouse0.97080387
153* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.96677077
154SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.94810231
155SOX3_22085726_ChIP-Seq_NPCs_Mouse0.94508094
156STAT3_23295773_ChIP-Seq_U87_Human0.92143284
157ZNF217_24962896_ChIP-Seq_MCF-7_Human0.92059932
158ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.91537776
159* TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.91106729
160NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90543236
161GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.89856425
162ARNT_22903824_ChIP-Seq_MCF-7_Human0.89575608
163RUNX2_22187159_ChIP-Seq_PCA_Human0.89557310
164TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.87421498
165AHR_22903824_ChIP-Seq_MCF-7_Human0.86530604
166CTCF_27219007_Chip-Seq_Bcells_Human0.86510232
167EP300_21415370_ChIP-Seq_HL-1_Mouse0.86217913
168FUS_26573619_Chip-Seq_HEK293_Human0.86131537
169* DNAJC2_21179169_ChIP-ChIP_NT2_Human0.86039154
170ESR1_20079471_ChIP-ChIP_T-47D_Human0.85303837
171RXR_22108803_ChIP-Seq_LS180_Human0.85123209
172MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.85029395
173AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.84618431
174AR_19668381_ChIP-Seq_PC3_Human0.83246530
175NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.80465043
176NRF2_20460467_ChIP-Seq_MEFs_Mouse0.80465043
177TRIM28_21343339_ChIP-Seq_HEK293_Human0.80006579
178TP63_17297297_ChIP-ChIP_HaCaT_Human0.79345612
179WT1_25993318_ChIP-Seq_PODOCYTE_Human0.78820458
180TCF4_22108803_ChIP-Seq_LS180_Human0.76650477
181CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.76647064
182* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.76400856
183MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.75858778
184TCF4_23295773_ChIP-Seq_U87_Human0.75673377
185SMAD4_21741376_ChIP-Seq_HESCs_Human0.75336868

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis3.62121931
2MP0005670_abnormal_white_adipose3.59312762
3MP0009379_abnormal_foot_pigmentation3.51216883
4MP0004130_abnormal_muscle_cell3.31786085
5MP0004145_abnormal_muscle_electrophysio3.30063313
6MP0000013_abnormal_adipose_tissue2.95012258
7MP0010030_abnormal_orbit_morphology2.88605740
8MP0006292_abnormal_olfactory_placode2.79694185
9MP0005666_abnormal_adipose_tissue2.68346737
10MP0004185_abnormal_adipocyte_glucose2.62228769
11MP0000751_myopathy2.59262967
12MP0006276_abnormal_autonomic_nervous2.59119261
13MP0003880_abnormal_central_pattern2.56794051
14MP0003646_muscle_fatigue2.55027786
15MP0002971_abnormal_brown_adipose2.42350437
16MP0004859_abnormal_synaptic_plasticity2.33549436
17MP0004270_analgesia2.32222850
18MP0003693_abnormal_embryo_hatching2.18716843
19MP0005375_adipose_tissue_phenotype2.11139545
20MP0005535_abnormal_body_temperature2.09019170
21MP0003635_abnormal_synaptic_transmissio2.07305563
22MP0002653_abnormal_ependyma_morphology2.07284291
23MP0004957_abnormal_blastocyst_morpholog2.06815199
24MP0000049_abnormal_middle_ear2.05145934
25MP0001293_anophthalmia2.04045734
26MP0002638_abnormal_pupillary_reflex2.03561298
27MP0003123_paternal_imprinting2.02134365
28MP0001501_abnormal_sleep_pattern2.01896004
29MP0000566_synostosis1.97774931
30MP0005645_abnormal_hypothalamus_physiol1.94809549
31MP0002909_abnormal_adrenal_gland1.87450880
32MP0000749_muscle_degeneration1.87249918
33MP0000537_abnormal_urethra_morphology1.86086345
34MP0008877_abnormal_DNA_methylation1.84310015
35MP0002876_abnormal_thyroid_physiology1.84059409
36MP0008932_abnormal_embryonic_tissue1.83709544
37MP0003890_abnormal_embryonic-extraembry1.80020482
38MP0002234_abnormal_pharynx_morphology1.77075010
39MP0010386_abnormal_urinary_bladder1.75070633
40MP0002249_abnormal_larynx_morphology1.71951407
41MP0002734_abnormal_mechanical_nocicepti1.71829396
42MP0003111_abnormal_nucleus_morphology1.70799566
43MP0000003_abnormal_adipose_tissue1.70298135
44MP0003136_yellow_coat_color1.68729851
45MP0002697_abnormal_eye_size1.68446513
46MP0001299_abnormal_eye_distance/1.66072503
47MP0003937_abnormal_limbs/digits/tail_de1.63306108
48MP0009780_abnormal_chondrocyte_physiolo1.62454676
49MP0009745_abnormal_behavioral_response1.60790393
50MP0003119_abnormal_digestive_system1.60490230
51MP0000759_abnormal_skeletal_muscle1.60052427
52MP0009046_muscle_twitch1.59235532
53MP0003121_genomic_imprinting1.59019425
54MP0003567_abnormal_fetal_cardiomyocyte1.59009115
55MP0001188_hyperpigmentation1.58666155
56MP0002064_seizures1.56644046
57MP0002063_abnormal_learning/memory/cond1.54419457
58MP0005499_abnormal_olfactory_system1.53609437
59MP0005394_taste/olfaction_phenotype1.53609437
60MP0003959_abnormal_lean_body1.52022376
61MP0001440_abnormal_grooming_behavior1.49408725
62MP0000747_muscle_weakness1.49370287
63MP0004133_heterotaxia1.49112261
64MP0000678_abnormal_parathyroid_gland1.48989047
65MP0002733_abnormal_thermal_nociception1.48789931
66MP0002272_abnormal_nervous_system1.48547578
67MP0005334_abnormal_fat_pad1.48472084
68MP0003315_abnormal_perineum_morphology1.48024722
69MP0002572_abnormal_emotion/affect_behav1.46672719
70MP0002078_abnormal_glucose_homeostasis1.46043147
71MP0002735_abnormal_chemical_nociception1.46032123
72MP0002332_abnormal_exercise_endurance1.44280090
73MP0001968_abnormal_touch/_nociception1.43968574
74MP0008789_abnormal_olfactory_epithelium1.43823331
75MP0003861_abnormal_nervous_system1.43298121
76MP0005448_abnormal_energy_balance1.40542787
77MP0002254_reproductive_system_inflammat1.40002134
78MP0005620_abnormal_muscle_contractility1.39844222
79MP0009672_abnormal_birth_weight1.38620030
80MP0003879_abnormal_hair_cell1.38541311
81MP0006036_abnormal_mitochondrial_physio1.38236589
82MP0003878_abnormal_ear_physiology1.37534814
83MP0005377_hearing/vestibular/ear_phenot1.37534814
84MP0003122_maternal_imprinting1.36882906
85MP0002106_abnormal_muscle_physiology1.36591468
86MP0003942_abnormal_urinary_system1.35431415
87MP0001348_abnormal_lacrimal_gland1.34295965
88MP0001286_abnormal_eye_development1.33196539
89MP0001970_abnormal_pain_threshold1.32747926
90MP0003718_maternal_effect1.32683600
91MP0002067_abnormal_sensory_capabilities1.32074831
92MP0005379_endocrine/exocrine_gland_phen1.31884834
93MP0004858_abnormal_nervous_system1.31529565
94MP0002822_catalepsy1.29534477
95MP0002085_abnormal_embryonic_tissue1.29182885
96MP0005646_abnormal_pituitary_gland1.25135565
97MP0008961_abnormal_basal_metabolism1.24402866
98MP0003938_abnormal_ear_development1.23901430
99MP0002938_white_spotting1.23852144
100MP0002184_abnormal_innervation1.23568705
101MP0004036_abnormal_muscle_relaxation1.23281608
102MP0001486_abnormal_startle_reflex1.22502371
103MP0003787_abnormal_imprinting1.22001126
104MP0001730_embryonic_growth_arrest1.20838532
105MP0005386_behavior/neurological_phenoty1.19993930
106MP0004924_abnormal_behavior1.19993930
107MP0000750_abnormal_muscle_regeneration1.17350146
108MP0005369_muscle_phenotype1.17188738
109MP0002233_abnormal_nose_morphology1.16811831
110MP0001529_abnormal_vocalization1.16044906
111MP0003077_abnormal_cell_cycle1.15861072
112MP0004142_abnormal_muscle_tone1.14241585
113MP0004233_abnormal_muscle_weight1.13923865
114MP0005423_abnormal_somatic_nervous1.12408809
115MP0005452_abnormal_adipose_tissue1.12050245
116MP0002970_abnormal_white_adipose1.11486198
117MP0002084_abnormal_developmental_patter1.10659537
118MP0009115_abnormal_fat_cell1.09960758
119MP0004043_abnormal_pH_regulation1.09862813
120MP0008569_lethality_at_weaning1.09122684
121MP0000428_abnormal_craniofacial_morphol1.08371438
122MP0002092_abnormal_eye_morphology1.07836492
123MP0009053_abnormal_anal_canal1.07431123
124MP0010094_abnormal_chromosome_stability1.06699454
125MP0002111_abnormal_tail_morphology1.06541582
126MP0003385_abnormal_body_wall1.06314257
127MP0004087_abnormal_muscle_fiber1.05962944
128MP0003329_amyloid_beta_deposits1.04761264
129MP0002557_abnormal_social/conspecific_i1.03497796
130MP0004147_increased_porphyrin_level1.02917047
131MP0002693_abnormal_pancreas_physiology1.01908557
132MP0000631_abnormal_neuroendocrine_gland1.01388954
133MP0002736_abnormal_nociception_after1.00086295
134MP0001984_abnormal_olfaction1.00013777
135MP0002118_abnormal_lipid_homeostasis0.99340328
136MP0003755_abnormal_palate_morphology0.98527399
137MP0001502_abnormal_circadian_rhythm0.98010253
138MP0002751_abnormal_autonomic_nervous0.97334377
139MP0010329_abnormal_lipoprotein_level0.96872717
140MP0001346_abnormal_lacrimal_gland0.96472394
141MP0002069_abnormal_eating/drinking_beha0.96392795
142MP0002152_abnormal_brain_morphology0.96300898
143MP0003137_abnormal_impulse_conducting0.95335818
144MP0003941_abnormal_skin_development0.94315071
145MP0002269_muscular_atrophy0.93534320
146MP0003953_abnormal_hormone_level0.92332205
147MP0005380_embryogenesis_phenotype0.92331316
148MP0001672_abnormal_embryogenesis/_devel0.92331316
149MP0003283_abnormal_digestive_organ0.92041613
150MP0002066_abnormal_motor_capabilities/c0.91419474
151MP0005275_abnormal_skin_tensile0.90703323
152MP0000538_abnormal_urinary_bladder0.90053574
153MP0001485_abnormal_pinna_reflex0.88094273
154MP0001905_abnormal_dopamine_level0.87425993
155MP0001697_abnormal_embryo_size0.86619488
156MP0002210_abnormal_sex_determination0.86260601
157MP0002081_perinatal_lethality0.85988073
158MP0001944_abnormal_pancreas_morphology0.85892893
159MP0006072_abnormal_retinal_apoptosis0.85836291
160MP0003935_abnormal_craniofacial_develop0.84959188
161MP0002752_abnormal_somatic_nervous0.84643929
162MP0000955_abnormal_spinal_cord0.83842874
163MP0000534_abnormal_ureter_morphology0.83316570
164MP0002089_abnormal_postnatal_growth/wei0.82501002
165MP0006035_abnormal_mitochondrial_morpho0.81372850
166MP0002163_abnormal_gland_morphology0.81322716
167MP0003948_abnormal_gas_homeostasis0.79884410
168MP0000026_abnormal_inner_ear0.79828215
169MP0000778_abnormal_nervous_system0.79436631
170MP0008058_abnormal_DNA_repair0.79018699
171MP0009250_abnormal_appendicular_skeleto0.78406343
172MP0003984_embryonic_growth_retardation0.77820495
173MP0002116_abnormal_craniofacial_bone0.76786909
174MP0002108_abnormal_muscle_morphology0.76703037
175MP0003698_abnormal_male_reproductive0.76497136
176MP0002080_prenatal_lethality0.75383475
177MP0002882_abnormal_neuron_morphology0.75108755
178MP0004811_abnormal_neuron_physiology0.74293286
179MP0004215_abnormal_myocardial_fiber0.74172039
180MP0001986_abnormal_taste_sensitivity0.73039273

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)5.66834530
2Oligomenorrhea (HP:0000876)5.58007576
3Myoglobinuria (HP:0002913)4.76511969
4Septo-optic dysplasia (HP:0100842)4.27573432
5Reticulocytopenia (HP:0001896)4.18137951
6Muscle stiffness (HP:0003552)4.03936309
7Muscle hypertrophy of the lower extremities (HP:0008968)4.01628164
8Muscle fiber inclusion bodies (HP:0100299)3.96283310
9Focal motor seizures (HP:0011153)3.88689725
10Difficulty running (HP:0009046)3.81550078
11Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.78893643
12Acute necrotizing encephalopathy (HP:0006965)3.66697570
13Abnormal mitochondria in muscle tissue (HP:0008316)3.60968212
14Nemaline bodies (HP:0003798)3.55099143
15Double outlet right ventricle (HP:0001719)3.48307502
16Congenital malformation of the right heart (HP:0011723)3.48307502
17Myotonia (HP:0002486)3.45613403
18Visual hallucinations (HP:0002367)3.36851388
19Exercise-induced muscle cramps (HP:0003710)3.32185363
20Type 1 muscle fiber predominance (HP:0003803)3.29340351
21Calf muscle hypertrophy (HP:0008981)3.27602598
22Acute encephalopathy (HP:0006846)3.27521703
23Progressive macrocephaly (HP:0004481)3.25453365
24Maternal diabetes (HP:0009800)3.23150861
25Rhabdomyolysis (HP:0003201)3.22686252
26Myopathic facies (HP:0002058)3.21483495
27Insulin-resistant diabetes mellitus (HP:0000831)3.20322992
28Distal arthrogryposis (HP:0005684)3.17726291
29Hepatic necrosis (HP:0002605)3.13393375
30Increased muscle lipid content (HP:0009058)3.06271694
31Mitochondrial inheritance (HP:0001427)3.05510497
32Colon cancer (HP:0003003)3.04476507
33Hepatoblastoma (HP:0002884)2.98507939
34Partial duplication of thumb phalanx (HP:0009944)2.91736347
35Hyperthyroidism (HP:0000836)2.91197484
36Hepatocellular necrosis (HP:0001404)2.89041807
37Ketoacidosis (HP:0001993)2.86097269
38Acanthosis nigricans (HP:0000956)2.85117096
39Atonic seizures (HP:0010819)2.78602054
40Myokymia (HP:0002411)2.77977281
41Polyphagia (HP:0002591)2.76326188
42Truncus arteriosus (HP:0001660)2.74099941
43Partial duplication of the phalanx of hand (HP:0009999)2.74056444
44Abnormality of cells of the erythroid lineage (HP:0012130)2.73807615
45Abnormality of the labia minora (HP:0012880)2.72963644
46Aplasia/Hypoplasia of the sacrum (HP:0008517)2.69304321
47Increased variability in muscle fiber diameter (HP:0003557)2.64016056
48Hypothermia (HP:0002045)2.62084433
49Increased CSF lactate (HP:0002490)2.61376976
50Generalized tonic-clonic seizures (HP:0002069)2.59310911
51Macrocytic anemia (HP:0001972)2.59173091
52Round ear (HP:0100830)2.58303522
53Pheochromocytoma (HP:0002666)2.55922932
54Absent septum pellucidum (HP:0001331)2.54669937
55High anterior hairline (HP:0009890)2.50263558
56Duplication of thumb phalanx (HP:0009942)2.49768254
57Abnormality of the aortic arch (HP:0012303)2.46020201
58Cortical dysplasia (HP:0002539)2.44135218
59Hypoglycemic coma (HP:0001325)2.43268348
60Hyporeflexia of lower limbs (HP:0002600)2.41374827
61Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.41038685
62Absence seizures (HP:0002121)2.40878491
63Turricephaly (HP:0000262)2.40763213
64Focal seizures (HP:0007359)2.40103465
65Transposition of the great arteries (HP:0001669)2.38776101
66Abnormal connection of the cardiac segments (HP:0011545)2.38776101
67Abnormal ventriculo-arterial connection (HP:0011563)2.38776101
68Exercise intolerance (HP:0003546)2.38264250
69Optic nerve hypoplasia (HP:0000609)2.38231144
70Cerebral edema (HP:0002181)2.37198319
71Abnormality of skeletal muscle fiber size (HP:0012084)2.37181600
72Hyperkalemia (HP:0002153)2.35838141
73Shoulder girdle muscle weakness (HP:0003547)2.34011439
74Abnormal number of erythroid precursors (HP:0012131)2.33720288
75Anophthalmia (HP:0000528)2.32748316
76Abnormal number of incisors (HP:0011064)2.29414710
77Neuroendocrine neoplasm (HP:0100634)2.29301036
78Abnormal eating behavior (HP:0100738)2.27532113
79Muscle fiber splitting (HP:0003555)2.27179702
80Increased intramyocellular lipid droplets (HP:0012240)2.26313203
81Hyperglycinuria (HP:0003108)2.25639521
82Febrile seizures (HP:0002373)2.23502488
83Absent phalangeal crease (HP:0006109)2.22528579
84Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.20726004
85Abnormality of alanine metabolism (HP:0010916)2.20185352
86Hyperalaninemia (HP:0003348)2.20185352
87Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.20185352
88Failure to thrive in infancy (HP:0001531)2.18702265
89Chromsome breakage (HP:0040012)2.17705192
90Lactic acidosis (HP:0003128)2.17653188
91Rimmed vacuoles (HP:0003805)2.17311683
92Hyperglycinemia (HP:0002154)2.15688215
93Ketosis (HP:0001946)2.15110092
94Impulsivity (HP:0100710)2.14497551
95Deformed tarsal bones (HP:0008119)2.14209277
96Bilateral microphthalmos (HP:0007633)2.13833259
97Progressive inability to walk (HP:0002505)2.13415367
98Abnormality of the septum pellucidum (HP:0007375)2.12445053
99Hypoplastic left heart (HP:0004383)2.10817196
100Ulnar deviation of the wrist (HP:0003049)2.09744351
101Abnormal hair whorl (HP:0010721)2.09601122
102Esophageal atresia (HP:0002032)2.06184651
103Calcaneovalgus deformity (HP:0001848)2.06082187
104Increased connective tissue (HP:0009025)2.03602811
105Lipid accumulation in hepatocytes (HP:0006561)2.02730637
106Abnormality of the calf musculature (HP:0001430)2.01613482
107Dialeptic seizures (HP:0011146)2.01575342
108Growth hormone excess (HP:0000845)1.98401377
109Abdominal situs inversus (HP:0003363)1.98076785
110Abnormality of abdominal situs (HP:0011620)1.98076785
111EMG: myopathic abnormalities (HP:0003458)1.96844010
112Birth length less than 3rd percentile (HP:0003561)1.96839532
113Optic disc pallor (HP:0000543)1.96574490
114Abnormality of the parathyroid morphology (HP:0011766)1.94045342
115Respiratory failure (HP:0002878)1.93992019
116Rib fusion (HP:0000902)1.91989693
117Hypercortisolism (HP:0001578)1.91843311
118Abnormal lung lobation (HP:0002101)1.91185108
119Sclerocornea (HP:0000647)1.90873106
120Hyperinsulinemic hypoglycemia (HP:0000825)1.88409210
121Cutaneous syndactyly (HP:0012725)1.88189966
122Anomalous pulmonary venous return (HP:0010772)1.87523223
123Neck muscle weakness (HP:0000467)1.87516092
124Hyperglycemia (HP:0003074)1.86860321
125Coronal craniosynostosis (HP:0004440)1.86529419
126Difficulty climbing stairs (HP:0003551)1.84201567
127Poor suck (HP:0002033)1.81824332
128Anxiety (HP:0000739)1.80601209
129Decreased activity of mitochondrial respiratory chain (HP:0008972)1.80001286
130Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.80001286
131Aplasia/Hypoplasia of the breasts (HP:0010311)1.78800087
132Abnormality of glycine metabolism (HP:0010895)1.78589367
133Abnormality of serine family amino acid metabolism (HP:0010894)1.78589367
134Ectopic kidney (HP:0000086)1.78224699
135Increased hepatocellular lipid droplets (HP:0006565)1.78211326
136Progressive cerebellar ataxia (HP:0002073)1.78178988
137Tachypnea (HP:0002789)1.77889985
138Hypoglycemic seizures (HP:0002173)1.76826903
139Horseshoe kidney (HP:0000085)1.76567034
140Abnormal finger flexion creases (HP:0006143)1.76446990
141Abnormality of dicarboxylic acid metabolism (HP:0010995)1.75595314
142Dicarboxylic aciduria (HP:0003215)1.75595314
143Agitation (HP:0000713)1.75575583
144Renal Fanconi syndrome (HP:0001994)1.75498868
145Chromosomal breakage induced by crosslinking agents (HP:0003221)1.74628477
146Diastasis recti (HP:0001540)1.73658535
147Epileptic encephalopathy (HP:0200134)1.73081276
148Choanal stenosis (HP:0000452)1.72189221
149Delayed gross motor development (HP:0002194)1.72056205
150Broad thumb (HP:0011304)1.70530103
151Type II lissencephaly (HP:0007260)1.70486285
152Breast aplasia (HP:0100783)1.70130946
153Trigonocephaly (HP:0000243)1.70107024
154Optic nerve coloboma (HP:0000588)1.69735188
155Amblyopia (HP:0000646)1.69674005
156Pelvic girdle muscle weakness (HP:0003749)1.69650233
157Abnormality of the musculature of the pelvis (HP:0001469)1.69629423
158Cutaneous finger syndactyly (HP:0010554)1.68888329
159Long foot (HP:0001833)1.68654463
160Triphalangeal thumb (HP:0001199)1.68444673
161Hypoplastic heart (HP:0001961)1.66521504
162Abnormality of the pulmonary veins (HP:0011718)1.63522511
163Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.60990180
164Adducted thumb (HP:0001181)1.59600880
165Holoprosencephaly (HP:0001360)1.59516064
166Absent thumb (HP:0009777)1.57655815
167Overriding aorta (HP:0002623)1.57155727
168Abnormality of cochlea (HP:0000375)1.56748044
169Aplasia/Hypoplasia of the sternum (HP:0006714)1.55560269
170Broad distal phalanx of finger (HP:0009836)1.55154708
171Pallor (HP:0000980)1.54912409
172Increased nuchal translucency (HP:0010880)1.53908468
173Absent radius (HP:0003974)1.52421445
174Neoplasm of the adrenal cortex (HP:0100641)1.51873893
175Broad phalanges of the hand (HP:0009768)1.49492534
176Anosmia (HP:0000458)1.49105598
177Nasal speech (HP:0001611)1.49005892
178Tetralogy of Fallot (HP:0001636)1.48820233
179Broad finger (HP:0001500)1.47872201
180Periauricular skin pits (HP:0100277)1.47319459
181Preauricular pit (HP:0004467)1.47319459
182Abnormality of reticulocytes (HP:0004312)1.47153889
183Rectal fistula (HP:0100590)1.47151704
184Rectovaginal fistula (HP:0000143)1.47151704
185Omphalocele (HP:0001539)1.45774711

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK23.52071192
2CDC73.40287870
3PHKG23.34628939
4PHKG13.34628939
5NTRK33.32241010
6NME12.93568122
7BCKDK2.93462910
8MAP3K122.78535322
9STK162.71393401
10DYRK22.64393499
11PLK42.45894655
12MAP3K102.43811189
13TYRO32.42605561
14CASK2.39844741
15MAP2K42.31179306
16INSRR2.23358555
17OBSCN2.11061344
18MAP3K42.07304943
19BUB12.05763960
20CAMK1D2.00417689
21TAF11.96588541
22TRIB31.96305143
23TTK1.95625391
24CAMK1G1.91322791
25TNIK1.88497052
26MARK11.87431988
27NTRK11.85142686
28PDK41.82681957
29PDK31.82681957
30MAP3K91.78515648
31MAP2K71.71005778
32SMG11.69824713
33MINK11.61087341
34EEF2K1.60265213
35ZAK1.58367872
36GRK51.56883664
37SRPK11.51492597
38CSNK1G31.50569063
39CHEK21.50040942
40CSNK1G21.47950466
41NTRK21.45752394
42GRK71.40673049
43MAP3K21.39454925
44MAPK131.39073720
45PLK31.36610748
46LMTK21.32789260
47DMPK1.31029227
48KSR21.28303109
49CSNK1G11.27825267
50CSNK1A1L1.25015023
51NEK21.23205424
52VRK11.21012891
53AURKA1.18218350
54TTN1.16681595
55ARAF1.16393923
56PLK11.15299965
57PRKD31.15216761
58PAK61.12365027
59DAPK21.10039229
60ICK1.07869870
61FER1.06572777
62DYRK31.04689870
63PDK21.04266312
64PIK3CG1.04114869
65MAP2K11.01680154
66CDK51.01380616
67PINK10.99811731
68EPHA40.97900278
69KSR10.97768372
70SIK10.97035271
71CAMKK20.95417686
72WEE10.94438746
73MKNK10.92484068
74ATR0.91108154
75AURKB0.90582790
76CDK70.89796317
77IRAK20.89141776
78MKNK20.88531464
79FGFR20.87074363
80PASK0.85416166
81DAPK30.84324278
82TLK10.83692219
83PBK0.81937446
84CDK11A0.81513410
85LATS20.80337025
86PRKAA20.80003110
87BMX0.78784964
88FRK0.77549710
89CSNK1E0.77310500
90UHMK10.77304391
91BCR0.77216555
92BRSK10.77165926
93CAMK2A0.73913591
94CDK150.73002015
95PNCK0.72016302
96PRKCE0.71990035
97CHEK10.71664079
98MAP3K10.71243176
99CDK20.70869147
100PAK30.69784978
101MAPK150.69725816
102KDR0.69025892
103PRKCG0.69005524
104CAMK2G0.68960948
105ERN10.67446763
106ERBB30.67330969
107IRAK10.66829225
108ADRBK10.66679557
109PLK20.66414386
110RET0.66337795
111RIPK40.66142585
112STK240.64121987
113STK110.63813258
114TSSK60.63710381
115MAP3K60.63597630
116CDK10.62626425
117MAPK120.61682996
118EPHA30.61518735
119CAMK2B0.61434754
120PDPK10.60742802
121CDK120.59516307
122MAP3K110.59141949
123PRKCH0.58914718
124EPHB20.58908967
125PIK3CA0.58793531
126PRKAA10.58739723
127AKT20.57890496
128MAP3K80.56987890
129BMPR1B0.56914082
130DYRK1B0.56361771
131DDR20.55594204
132STK30.54951576
133SIK20.54688862
134PRKACA0.54341809
135CSNK2A20.54306694
136RPS6KA20.53447947
137ATM0.52524857
138CDK140.51520322
139PRKDC0.50367922
140PRKACG0.50207966
141ALK0.49353866
142CAMK2D0.48828115
143CDK40.48607913
144MTOR0.48317886
145MAP3K30.48190601
146CDK190.47992298
147MST1R0.47918300
148TESK10.47750420
149SGK2230.47347087
150SGK4940.47347087
151HIPK20.46974217
152CAMKK10.46671799
153FGR0.45874185
154CDK80.45797555
155PAK10.45596538
156RIPK10.45432420
157CAMK10.45090890
158DYRK1A0.44931669
159WNK40.44552754
160BRAF0.44216992
161SGK10.43558195
162GSK3B0.41790595
163IRAK30.41603479
164MAP2K60.41229390
165CSNK1A10.39546523
166PDK10.39359895
167PRKCZ0.38152965
168CDK180.36325817

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.23118258
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.32006648
3Oxidative phosphorylation_Homo sapiens_hsa001903.01950937
4DNA replication_Homo sapiens_hsa030302.79735766
5Propanoate metabolism_Homo sapiens_hsa006402.61010618
6Parkinsons disease_Homo sapiens_hsa050122.49684224
7Mismatch repair_Homo sapiens_hsa034302.35063640
8Sulfur relay system_Homo sapiens_hsa041222.30015781
9Alzheimers disease_Homo sapiens_hsa050102.25831154
10Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.12289392
11Synaptic vesicle cycle_Homo sapiens_hsa047212.10396941
12Nicotine addiction_Homo sapiens_hsa050332.01579004
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.94149206
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.91887848
15Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.89409515
16Basal cell carcinoma_Homo sapiens_hsa052171.89196260
17RNA polymerase_Homo sapiens_hsa030201.86112703
18Biosynthesis of amino acids_Homo sapiens_hsa012301.83260083
19Fatty acid biosynthesis_Homo sapiens_hsa000611.81974991
20Spliceosome_Homo sapiens_hsa030401.77814473
21Base excision repair_Homo sapiens_hsa034101.77254152
22Cardiac muscle contraction_Homo sapiens_hsa042601.76594678
23Fatty acid metabolism_Homo sapiens_hsa012121.74024284
24Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.70765700
25Insulin secretion_Homo sapiens_hsa049111.70355746
26Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.68577486
27Collecting duct acid secretion_Homo sapiens_hsa049661.59814786
28PPAR signaling pathway_Homo sapiens_hsa033201.57917041
29Huntingtons disease_Homo sapiens_hsa050161.57847942
30GABAergic synapse_Homo sapiens_hsa047271.56468753
31Homologous recombination_Homo sapiens_hsa034401.56016359
32Renin secretion_Homo sapiens_hsa049241.52293972
33RNA transport_Homo sapiens_hsa030131.48428616
34Fatty acid degradation_Homo sapiens_hsa000711.47215368
35Taste transduction_Homo sapiens_hsa047421.46707805
36Vibrio cholerae infection_Homo sapiens_hsa051101.45499564
37Cell cycle_Homo sapiens_hsa041101.44897278
38Arginine and proline metabolism_Homo sapiens_hsa003301.41734790
39Cyanoamino acid metabolism_Homo sapiens_hsa004601.40659925
40Circadian entrainment_Homo sapiens_hsa047131.38697543
41Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.37634716
42Glucagon signaling pathway_Homo sapiens_hsa049221.37548457
43Long-term potentiation_Homo sapiens_hsa047201.36594429
44Pyruvate metabolism_Homo sapiens_hsa006201.35993555
45Steroid biosynthesis_Homo sapiens_hsa001001.35450390
46Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.34528525
47Morphine addiction_Homo sapiens_hsa050321.30374589
48Fanconi anemia pathway_Homo sapiens_hsa034601.29401908
492-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.29267975
50Folate biosynthesis_Homo sapiens_hsa007901.28358508
51Amphetamine addiction_Homo sapiens_hsa050311.27400721
52Dopaminergic synapse_Homo sapiens_hsa047281.27339020
53Pyrimidine metabolism_Homo sapiens_hsa002401.25894664
54Butanoate metabolism_Homo sapiens_hsa006501.23700016
55Insulin signaling pathway_Homo sapiens_hsa049101.23467880
56Hippo signaling pathway_Homo sapiens_hsa043901.23183816
57Cholinergic synapse_Homo sapiens_hsa047251.22526825
58Hedgehog signaling pathway_Homo sapiens_hsa043401.22189611
59Serotonergic synapse_Homo sapiens_hsa047261.21634126
60Cysteine and methionine metabolism_Homo sapiens_hsa002701.20951943
61mRNA surveillance pathway_Homo sapiens_hsa030151.20316185
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.18645269
63Adipocytokine signaling pathway_Homo sapiens_hsa049201.17894580
64Calcium signaling pathway_Homo sapiens_hsa040201.17571408
65Salivary secretion_Homo sapiens_hsa049701.16918077
66Oxytocin signaling pathway_Homo sapiens_hsa049211.14664215
67Cocaine addiction_Homo sapiens_hsa050301.12544496
68Olfactory transduction_Homo sapiens_hsa047401.12305603
69Glutamatergic synapse_Homo sapiens_hsa047241.11725604
70Vitamin B6 metabolism_Homo sapiens_hsa007501.10892055
71Gastric acid secretion_Homo sapiens_hsa049711.09726658
72One carbon pool by folate_Homo sapiens_hsa006701.09683159
73AMPK signaling pathway_Homo sapiens_hsa041521.09531645
74Long-term depression_Homo sapiens_hsa047301.09094387
75Maturity onset diabetes of the young_Homo sapiens_hsa049501.07962329
76Aldosterone synthesis and secretion_Homo sapiens_hsa049251.06858630
77Glycerolipid metabolism_Homo sapiens_hsa005611.06710091
78Non-homologous end-joining_Homo sapiens_hsa034501.06429766
79Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.06290770
80Nucleotide excision repair_Homo sapiens_hsa034201.06124686
81Wnt signaling pathway_Homo sapiens_hsa043101.06104077
82Basal transcription factors_Homo sapiens_hsa030221.05927184
83Fatty acid elongation_Homo sapiens_hsa000621.02271197
84Type II diabetes mellitus_Homo sapiens_hsa049301.01332312
85Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.00860153
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.00280869
87Notch signaling pathway_Homo sapiens_hsa043300.98405869
88Proteasome_Homo sapiens_hsa030500.96349556
89GnRH signaling pathway_Homo sapiens_hsa049120.94835846
90Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.94572207
91Selenocompound metabolism_Homo sapiens_hsa004500.93558549
92Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.90584091
93Purine metabolism_Homo sapiens_hsa002300.89054575
94Pancreatic secretion_Homo sapiens_hsa049720.88336197
95Vitamin digestion and absorption_Homo sapiens_hsa049770.88302885
96Insulin resistance_Homo sapiens_hsa049310.85682624
97Carbon metabolism_Homo sapiens_hsa012000.84936290
98Oocyte meiosis_Homo sapiens_hsa041140.84576126
99Phenylalanine metabolism_Homo sapiens_hsa003600.84503227
100Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.82932056
101Protein export_Homo sapiens_hsa030600.82260951
102Tight junction_Homo sapiens_hsa045300.81276614
103Adherens junction_Homo sapiens_hsa045200.81206348
104Melanogenesis_Homo sapiens_hsa049160.80673264
105Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78558434
106Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.75265323
107Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.73523721
108Arginine biosynthesis_Homo sapiens_hsa002200.72760676
109beta-Alanine metabolism_Homo sapiens_hsa004100.72719002
110Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.72007240
111Gap junction_Homo sapiens_hsa045400.71918428
112Dilated cardiomyopathy_Homo sapiens_hsa054140.71256048
113Vascular smooth muscle contraction_Homo sapiens_hsa042700.70974318
114cGMP-PKG signaling pathway_Homo sapiens_hsa040220.70457709
115Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.70078434
116Starch and sucrose metabolism_Homo sapiens_hsa005000.69936645
117Sulfur metabolism_Homo sapiens_hsa009200.69802659
118Circadian rhythm_Homo sapiens_hsa047100.67517626
119cAMP signaling pathway_Homo sapiens_hsa040240.65970805
120Tyrosine metabolism_Homo sapiens_hsa003500.65229951
121Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.65055212
122Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.64089849
123Estrogen signaling pathway_Homo sapiens_hsa049150.63880726
124Metabolic pathways_Homo sapiens_hsa011000.62480372
125RNA degradation_Homo sapiens_hsa030180.62292798
126Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.59875369
127Alcoholism_Homo sapiens_hsa050340.59397701
128Glycerophospholipid metabolism_Homo sapiens_hsa005640.59141065
129Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.58900822
130Lysine degradation_Homo sapiens_hsa003100.58673403
131Fat digestion and absorption_Homo sapiens_hsa049750.57603899
132Thyroid cancer_Homo sapiens_hsa052160.56428593
133Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55033984
134Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.54167587
135Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.51068669
136Fructose and mannose metabolism_Homo sapiens_hsa000510.50521426
137Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.49828621
138Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.46632350
139Protein digestion and absorption_Homo sapiens_hsa049740.46355780
140Glutathione metabolism_Homo sapiens_hsa004800.45580158
141Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.43556521
142Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.43151967
143Thyroid hormone synthesis_Homo sapiens_hsa049180.43022419
144Colorectal cancer_Homo sapiens_hsa052100.41325284
145Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.41094741
146Central carbon metabolism in cancer_Homo sapiens_hsa052300.39664440
147ErbB signaling pathway_Homo sapiens_hsa040120.37688548
148Carbohydrate digestion and absorption_Homo sapiens_hsa049730.36315659
149Galactose metabolism_Homo sapiens_hsa000520.35213364
150Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.34488758
151Peroxisome_Homo sapiens_hsa041460.33760323
152Axon guidance_Homo sapiens_hsa043600.33702182
153Pentose phosphate pathway_Homo sapiens_hsa000300.32903664
154Renin-angiotensin system_Homo sapiens_hsa046140.31984840
155Glioma_Homo sapiens_hsa052140.31421009
156Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.31102407
157Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.30847502
158Dorso-ventral axis formation_Homo sapiens_hsa043200.30240252
159SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29572730
160p53 signaling pathway_Homo sapiens_hsa041150.29452024
161Phototransduction_Homo sapiens_hsa047440.29442495
162Phagosome_Homo sapiens_hsa041450.28542740
163MicroRNAs in cancer_Homo sapiens_hsa052060.28307526
164Regulation of autophagy_Homo sapiens_hsa041400.26592894
165Rheumatoid arthritis_Homo sapiens_hsa053230.25935910
166Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.25653694

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