ZSCAN4

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 ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of acrosome reaction (GO:0060046)5.36710405
2male meiosis I (GO:0007141)5.35046659
3multicellular organism reproduction (GO:0032504)5.08876593
4meiosis I (GO:0007127)4.45898639
5positive regulation of uterine smooth muscle contraction (GO:0070474)4.03608013
6negative regulation of retinoic acid receptor signaling pathway (GO:0048387)31.1871322
7regulation of female gonad development (GO:2000194)3.97400048
8positive regulation of prostaglandin secretion (GO:0032308)3.63700255
9piRNA metabolic process (GO:0034587)3.56921769
10aggressive behavior (GO:0002118)3.43188443
11male meiosis (GO:0007140)3.38373883
12behavioral response to nicotine (GO:0035095)3.26866846
13reproduction (GO:0000003)3.24275614
14regulation of prostaglandin secretion (GO:0032306)3.06289406
15positive regulation of protein homooligomerization (GO:0032464)3.01994582
16regulation of retinoic acid receptor signaling pathway (GO:0048385)26.2069919
17regulation of female receptivity (GO:0045924)2.99711537
18positive regulation of cAMP-mediated signaling (GO:0043950)2.99666075
19regulation of uterine smooth muscle contraction (GO:0070472)2.97067572
20regulation of DNA methylation (GO:0044030)2.95268723
21positive regulation of catecholamine secretion (GO:0033605)2.94165831
22drinking behavior (GO:0042756)2.91101373
23positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.87203706
24rRNA modification (GO:0000154)2.86632483
25transcription from mitochondrial promoter (GO:0006390)2.83692737
26retinal cone cell development (GO:0046549)2.83084218
27positive regulation of digestive system process (GO:0060456)2.78881469
28negative regulation of transcription regulatory region DNA binding (GO:2000678)2.77287743
29positive regulation of fatty acid transport (GO:2000193)2.75587539
30response to pheromone (GO:0019236)2.69237725
31sperm-egg recognition (GO:0035036)2.68333895
32regulation of cytokine production involved in inflammatory response (GO:1900015)2.67348014
33rRNA methylation (GO:0031167)2.65210861
34regulation of penile erection (GO:0060405)2.64750885
35regulation of meiosis I (GO:0060631)2.62745982
36glycine transport (GO:0015816)2.62353140
37oocyte development (GO:0048599)2.59953202
38regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.59850224
39positive regulation of icosanoid secretion (GO:0032305)2.57916851
40negative regulation of reproductive process (GO:2000242)2.54828485
41L-fucose catabolic process (GO:0042355)2.53879753
42fucose catabolic process (GO:0019317)2.53879753
43L-fucose metabolic process (GO:0042354)2.53879753
44single fertilization (GO:0007338)2.53857718
45glycerophospholipid catabolic process (GO:0046475)2.52393382
46regulation of hexokinase activity (GO:1903299)2.51125942
47regulation of glucokinase activity (GO:0033131)2.51125942
48meiotic cell cycle (GO:0051321)2.49604191
49DNA methylation involved in gamete generation (GO:0043046)2.48252822
50female mating behavior (GO:0060180)2.47813233
51protein polyglutamylation (GO:0018095)2.47672225
52regulation of calcium ion-dependent exocytosis (GO:0017158)2.44714101
53regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.43841550
54parental behavior (GO:0060746)2.41315729
55transcription elongation from RNA polymerase III promoter (GO:0006385)2.39573763
56termination of RNA polymerase III transcription (GO:0006386)2.39573763
57DNA deamination (GO:0045006)2.39227211
58acrosome reaction (GO:0007340)2.38722176
59epithelial cilium movement (GO:0003351)2.36708031
60sleep (GO:0030431)2.35081878
61regulation of cilium movement (GO:0003352)2.34925718
62water-soluble vitamin biosynthetic process (GO:0042364)2.34755360
63negative regulation of digestive system process (GO:0060457)2.34388459
64calcium ion-dependent exocytosis (GO:0017156)2.32753466
65protein K6-linked ubiquitination (GO:0085020)2.32555972
66positive regulation of histone H3-K4 methylation (GO:0051571)2.32227572
67binding of sperm to zona pellucida (GO:0007339)2.31642224
68meiotic nuclear division (GO:0007126)2.31159411
69RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.26286214
70tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.26286214
71response to acidic pH (GO:0010447)2.26238912
72positive regulation of meiotic cell cycle (GO:0051446)2.24926187
73maternal behavior (GO:0042711)2.24725696
74cellular response to pH (GO:0071467)2.23920925
75fertilization (GO:0009566)2.23470824
76regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.20839522
77regulation of nuclear cell cycle DNA replication (GO:0033262)2.17828484
78cell-cell recognition (GO:0009988)2.17362244
79positive regulation of meiosis (GO:0045836)2.17249268
80snRNA transcription (GO:0009301)2.16054973
81seminiferous tubule development (GO:0072520)2.15228939
82regulation of action potential (GO:0098900)2.14875258
83nonmotile primary cilium assembly (GO:0035058)2.14108855
84detection of chemical stimulus involved in sensory perception of taste (GO:0050912)2.13425979
85negative regulation of mast cell activation (GO:0033004)2.12080274
86sperm motility (GO:0030317)2.11757119
87photoreceptor cell maintenance (GO:0045494)2.09764329
88meiotic cell cycle process (GO:1903046)2.06357608
89tachykinin receptor signaling pathway (GO:0007217)2.05807741
90chaperone-mediated protein transport (GO:0072321)2.04052752
91nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.02097706
92regulation of cAMP-mediated signaling (GO:0043949)2.01879130
93exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.00780731
94protein kinase C signaling (GO:0070528)2.00689483
95mitochondrial RNA metabolic process (GO:0000959)1.99518110
96pseudouridine synthesis (GO:0001522)1.98989490
97negative regulation of cAMP-mediated signaling (GO:0043951)1.98283524
98positive regulation of humoral immune response (GO:0002922)1.97931783
99detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)1.97636218
100RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)1.97564776

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.55530738
2ZNF274_21170338_ChIP-Seq_K562_Hela4.34154539
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.61568702
4RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.94135795
5HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.91702066
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.86987082
7FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.77849080
8VDR_22108803_ChIP-Seq_LS180_Human2.52327053
9GABP_17652178_ChIP-ChIP_JURKAT_Human2.51786206
10GBX2_23144817_ChIP-Seq_PC3_Human2.36126503
11* NOTCH1_21737748_ChIP-Seq_TLL_Human2.31484983
12KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.30718118
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.14024198
14E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.07030215
15EST1_17652178_ChIP-ChIP_JURKAT_Human2.04843513
16CTBP1_25329375_ChIP-Seq_LNCAP_Human2.03203339
17ZFP57_27257070_Chip-Seq_ESCs_Mouse1.94880841
18ETV1_20927104_ChIP-Seq_GIST48_Human1.93564352
19IGF1R_20145208_ChIP-Seq_DFB_Human1.91806490
20MYC_18940864_ChIP-ChIP_HL60_Human1.86244862
21TP63_19390658_ChIP-ChIP_HaCaT_Human1.83425305
22RBPJ_21746931_ChIP-Seq_IB4_Human1.79016066
23TBL1_22424771_ChIP-Seq_293T_Human1.77934114
24SALL1_21062744_ChIP-ChIP_HESCs_Human1.76315624
25NFYB_21822215_ChIP-Seq_K562_Human1.73998719
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.71988676
27PHF8_20622853_ChIP-Seq_HELA_Human1.71118252
28UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.68402844
29EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.67487659
30P300_19829295_ChIP-Seq_ESCs_Human1.63509375
31POU3F2_20337985_ChIP-ChIP_501MEL_Human1.61050531
32ETS1_20019798_ChIP-Seq_JURKAT_Human1.58884705
33TP53_22573176_ChIP-Seq_HFKS_Human1.53898903
34CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.53752437
35TAF15_26573619_Chip-Seq_HEK293_Human1.53247993
36RNF2_27304074_Chip-Seq_NSC_Mouse1.48690822
37SMAD4_21799915_ChIP-Seq_A2780_Human1.48616396
38KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.45986614
39KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.45986614
40KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.45986614
41MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.45773202
42EWS_26573619_Chip-Seq_HEK293_Human1.43917827
43IRF1_19129219_ChIP-ChIP_H3396_Human1.43438148
44SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43087347
45BCAT_22108803_ChIP-Seq_LS180_Human1.42090223
46GATA6_21074721_ChIP-Seq_CACO-2_Human1.40255950
47IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.40053089
48CBP_20019798_ChIP-Seq_JUKART_Human1.40053089
49CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.39827014
50ETV2_25802403_ChIP-Seq_MESCs_Mouse1.39802762
51BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.38972126
52GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.35358982
53GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.34312214
54VDR_23849224_ChIP-Seq_CD4+_Human1.33975839
55GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.33732299
56FUS_26573619_Chip-Seq_HEK293_Human1.33295519
57KLF5_20875108_ChIP-Seq_MESCs_Mouse1.32080134
58HNFA_21074721_ChIP-Seq_CACO-2_Human1.31453330
59CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.31024101
60FLI1_27457419_Chip-Seq_LIVER_Mouse1.30522393
61BMI1_23680149_ChIP-Seq_NPCS_Mouse1.29617874
62SOX2_19829295_ChIP-Seq_ESCs_Human1.27966405
63NANOG_19829295_ChIP-Seq_ESCs_Human1.27966405
64STAT3_23295773_ChIP-Seq_U87_Human1.26832999
65ELK1_19687146_ChIP-ChIP_HELA_Human1.26333185
66PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.24227468
67AR_25329375_ChIP-Seq_VCAP_Human1.24131800
68NFYA_21822215_ChIP-Seq_K562_Human1.23037295
69TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22559022
70AUTS2_25519132_ChIP-Seq_293T-REX_Human1.22175605
71TCF4_23295773_ChIP-Seq_U87_Human1.22040814
72ER_23166858_ChIP-Seq_MCF-7_Human1.21665468
73RUNX2_22187159_ChIP-Seq_PCA_Human1.20639062
74MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.20287866
75REST_21632747_ChIP-Seq_MESCs_Mouse1.20146434
76CBX2_27304074_Chip-Seq_ESCs_Mouse1.19441439
77NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.19002740
78TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18976975
79POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.18976975
80* NCOR_22424771_ChIP-Seq_293T_Human1.18955023
81NANOG_20526341_ChIP-Seq_ESCs_Human1.16634509
82AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.16305544
83SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.14581432
84PIAS1_25552417_ChIP-Seq_VCAP_Human1.11760073
85CREB1_15753290_ChIP-ChIP_HEK293T_Human1.08686554
86NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.07334300
87TCF4_22108803_ChIP-Seq_LS180_Human1.06816811
88PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.05517384
89PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.03308716
90HOXB7_26014856_ChIP-Seq_BT474_Human1.02785667
91MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02635174
92SMAD3_21741376_ChIP-Seq_EPCs_Human1.02342396
93PRDM14_20953172_ChIP-Seq_ESCs_Human1.01757067
94NR3C1_21868756_ChIP-Seq_MCF10A_Human1.00247786
95JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.99114533
96CBX2_22325352_ChIP-Seq_293T-Rex_Human0.98944037
97PCGF2_27294783_Chip-Seq_ESCs_Mouse0.97346670
98FOXA1_21572438_ChIP-Seq_LNCaP_Human0.95450476
99FOXH1_21741376_ChIP-Seq_EPCs_Human0.95172019
100POU5F1_16153702_ChIP-ChIP_HESCs_Human0.93633884

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode4.18527088
2MP0001986_abnormal_taste_sensitivity3.28729154
3MP0008877_abnormal_DNA_methylation3.23130276
4MP0003718_maternal_effect3.17777222
5MP0005423_abnormal_somatic_nervous2.95521190
6MP0000372_irregular_coat_pigmentation2.53582984
7MP0003195_calcinosis2.49297141
8MP0003136_yellow_coat_color2.30955026
9MP0002102_abnormal_ear_morphology2.30861252
10MP0005410_abnormal_fertilization2.30301741
11MP0005646_abnormal_pituitary_gland2.30174012
12MP0006276_abnormal_autonomic_nervous2.19665742
13MP0005499_abnormal_olfactory_system2.14996794
14MP0005394_taste/olfaction_phenotype2.14996794
15MP0003787_abnormal_imprinting2.02637972
16MP0008789_abnormal_olfactory_epithelium2.02395576
17MP0002160_abnormal_reproductive_system2.01963166
18MP0005551_abnormal_eye_electrophysiolog2.00611111
19MP0003121_genomic_imprinting1.95519969
20MP0004142_abnormal_muscle_tone1.92535190
21MP0001929_abnormal_gametogenesis1.84670846
22MP0003122_maternal_imprinting1.82590315
23MP0003880_abnormal_central_pattern1.78397868
24MP0002210_abnormal_sex_determination1.74672615
25MP0002638_abnormal_pupillary_reflex1.74150568
26MP0005389_reproductive_system_phenotype1.70588453
27MP0001968_abnormal_touch/_nociception1.68558484
28MP0003646_muscle_fatigue1.67947033
29MP0000631_abnormal_neuroendocrine_gland1.58221201
30MP0001984_abnormal_olfaction1.57387483
31MP0005645_abnormal_hypothalamus_physiol1.53823309
32MP0002163_abnormal_gland_morphology1.47003051
33MP0002138_abnormal_hepatobiliary_system1.46456594
34MP0003698_abnormal_male_reproductive1.43024887
35MP0005253_abnormal_eye_physiology1.42100075
36MP0005379_endocrine/exocrine_gland_phen1.40616150
37MP0002938_white_spotting1.37528288
38MP0008058_abnormal_DNA_repair1.35088105
39MP0002254_reproductive_system_inflammat1.34853640
40MP0002272_abnormal_nervous_system1.33820471
41MP0002277_abnormal_respiratory_mucosa1.30910402
42MP0000653_abnormal_sex_gland1.30878475
43MP0006072_abnormal_retinal_apoptosis1.26516708
44MP0002837_dystrophic_cardiac_calcinosis1.25522887
45MP0009379_abnormal_foot_pigmentation1.24963501
46MP0001502_abnormal_circadian_rhythm1.24743894
47MP0001486_abnormal_startle_reflex1.24452549
48MP0009745_abnormal_behavioral_response1.23914602
49MP0005395_other_phenotype1.21121584
50MP0002127_abnormal_cardiovascular_syste1.19771916
51MP0002751_abnormal_autonomic_nervous1.15469829
52MP0001145_abnormal_male_reproductive1.14878987
53MP0001529_abnormal_vocalization1.14650275
54MP0002876_abnormal_thyroid_physiology1.10848321
55MP0009046_muscle_twitch1.10249261
56MP0002736_abnormal_nociception_after1.09260112
57MP0003693_abnormal_embryo_hatching1.08659426
58MP0001485_abnormal_pinna_reflex1.04731821
59MP0004885_abnormal_endolymph1.03101292
60MP0000427_abnormal_hair_cycle1.03011277
61MP0002557_abnormal_social/conspecific_i1.02214781
62MP0008995_early_reproductive_senescence1.01847811
63MP0004215_abnormal_myocardial_fiber1.00672096
64MP0000049_abnormal_middle_ear1.00468828
65MP0005647_abnormal_sex_gland0.99922039
66MP0002161_abnormal_fertility/fecundity0.99500852
67MP0002735_abnormal_chemical_nociception0.99332884
68MP0002234_abnormal_pharynx_morphology0.95649127
69MP0001119_abnormal_female_reproductive0.94864620
70MP0001919_abnormal_reproductive_system0.94793972
71MP0004742_abnormal_vestibular_system0.93525963
72MP0003890_abnormal_embryonic-extraembry0.91758659
73MP0002734_abnormal_mechanical_nocicepti0.90296251
74MP0002233_abnormal_nose_morphology0.90289298
75MP0003699_abnormal_female_reproductive0.87555840
76MP0001293_anophthalmia0.85420916
77MP0000778_abnormal_nervous_system0.83479471
78MP0002572_abnormal_emotion/affect_behav0.82203083
79MP0002733_abnormal_thermal_nociception0.82090837
80MP0008057_abnormal_DNA_replication0.81896509
81MP0005174_abnormal_tail_pigmentation0.81302701
82MP0003938_abnormal_ear_development0.80946150
83MP0008872_abnormal_physiological_respon0.78152952
84MP0002184_abnormal_innervation0.77263183
85MP0001944_abnormal_pancreas_morphology0.76982276
86MP0003119_abnormal_digestive_system0.75455726
87MP0001764_abnormal_homeostasis0.75402050
88MP0002229_neurodegeneration0.74814308
89MP0002752_abnormal_somatic_nervous0.74652804
90MP0005075_abnormal_melanosome_morpholog0.74474672
91MP0000516_abnormal_urinary_system0.73259432
92MP0005367_renal/urinary_system_phenotyp0.73259432
93MP0005195_abnormal_posterior_eye0.73077570
94MP0002095_abnormal_skin_pigmentation0.72610175
95MP0004270_analgesia0.72224528
96MP0001324_abnormal_eye_pigmentation0.72023523
97MP0005084_abnormal_gallbladder_morpholo0.71985727
98MP0005360_urolithiasis0.71819174
99MP0003635_abnormal_synaptic_transmissio0.71703162
100MP0001970_abnormal_pain_threshold0.71591102

Predicted human phenotypes

RankGene SetZ-score
1Absent rod-and cone-mediated responses on ERG (HP:0007688)4.07986057
2Pendular nystagmus (HP:0012043)3.91653443
3Abnormal rod and cone electroretinograms (HP:0008323)3.78289572
4Pancreatic cysts (HP:0001737)3.76448781
5Attenuation of retinal blood vessels (HP:0007843)3.59814318
6Male infertility (HP:0003251)3.40071302
7Molar tooth sign on MRI (HP:0002419)3.24060545
8Abnormality of midbrain morphology (HP:0002418)3.24060545
9Pancreatic fibrosis (HP:0100732)3.20419775
10Decreased central vision (HP:0007663)3.18229645
11True hermaphroditism (HP:0010459)3.14430015
12Type II lissencephaly (HP:0007260)2.93487241
13Aplasia/hypoplasia of the uterus (HP:0008684)2.80732765
14Bony spicule pigmentary retinopathy (HP:0007737)2.77693088
15Abnormality of the labia minora (HP:0012880)2.73786621
16Medial flaring of the eyebrow (HP:0010747)2.72052347
17Congenital stationary night blindness (HP:0007642)2.70273870
18Nephronophthisis (HP:0000090)2.67250168
19Aplasia/Hypoplasia of the fovea (HP:0008060)2.63886657
20Hypoplasia of the fovea (HP:0007750)2.63886657
21Dynein arm defect of respiratory motile cilia (HP:0012255)2.54001986
22Absent/shortened dynein arms (HP:0200106)2.54001986
23Aplasia/Hypoplasia of the tibia (HP:0005772)2.46476362
24Chronic hepatic failure (HP:0100626)2.40661590
25Hypoplasia of the uterus (HP:0000013)2.38367791
26Aplasia/Hypoplasia of the tongue (HP:0010295)2.38119248
27Rhinitis (HP:0012384)2.36633496
28Intestinal atresia (HP:0011100)2.34014426
29Short tibia (HP:0005736)2.33791122
30Optic nerve hypoplasia (HP:0000609)2.32900527
31Male pseudohermaphroditism (HP:0000037)2.27244260
32Infertility (HP:0000789)2.23791526
33Septo-optic dysplasia (HP:0100842)2.21676337
34Abnormality of the renal medulla (HP:0100957)2.18840154
35Abnormality of the renal cortex (HP:0011035)2.17044148
36Methylmalonic acidemia (HP:0002912)2.16655393
37Abnormal ciliary motility (HP:0012262)2.15265378
38Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.15236740
39Constricted visual fields (HP:0001133)2.15011777
40Abnormal respiratory epithelium morphology (HP:0012253)2.14824058
41Abnormal respiratory motile cilium morphology (HP:0005938)2.14824058
42Gait imbalance (HP:0002141)2.10771670
433-Methylglutaconic aciduria (HP:0003535)2.10589614
44Gaze-evoked nystagmus (HP:0000640)2.10477872
45Birth length less than 3rd percentile (HP:0003561)2.09590217
46Sclerocornea (HP:0000647)2.09490347
47Cerebellar dysplasia (HP:0007033)2.07336026
48Hypophosphatemic rickets (HP:0004912)2.05545715
49Congenital primary aphakia (HP:0007707)2.05527478
50Abnormality of the fovea (HP:0000493)2.04777732
51Cystic liver disease (HP:0006706)2.04724982
52Abnormality of macular pigmentation (HP:0008002)2.04263742
53Limb dystonia (HP:0002451)2.03083046
54Abolished electroretinogram (ERG) (HP:0000550)2.02252889
55Anterior segment dysgenesis (HP:0007700)2.01964328
56Absent thumb (HP:0009777)2.00771984
57Carpal bone hypoplasia (HP:0001498)1.97780360
58Premature ovarian failure (HP:0008209)1.97272914
59Abnormal pancreas size (HP:0012094)1.96806716
60Tubulointerstitial nephritis (HP:0001970)1.96615452
61Methylmalonic aciduria (HP:0012120)1.96340304
62Myokymia (HP:0002411)1.96010270
63Tubular atrophy (HP:0000092)1.94089695
64Progressive cerebellar ataxia (HP:0002073)1.93568263
65Abnormal respiratory motile cilium physiology (HP:0012261)1.92960593
66Increased corneal curvature (HP:0100692)1.92561767
67Keratoconus (HP:0000563)1.92561767
68Adrenal hypoplasia (HP:0000835)1.91839590
69Aplasia/Hypoplasia involving the musculature (HP:0001460)1.91604972
70Absent septum pellucidum (HP:0001331)1.91556210
71Decreased circulating renin level (HP:0003351)1.91362412
72Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.89947778
73Metaphyseal dysplasia (HP:0100255)1.87727714
74Lissencephaly (HP:0001339)1.87592025
75Renal cortical cysts (HP:0000803)1.85313107
76Poor suck (HP:0002033)1.85269532
77Genital tract atresia (HP:0001827)1.83169610
78Supernumerary spleens (HP:0009799)1.81136722
79Anencephaly (HP:0002323)1.79897095
80Abnormal biliary tract physiology (HP:0012439)1.79528875
81Bile duct proliferation (HP:0001408)1.79528875
82Abnormality of the ileum (HP:0001549)1.79486841
83Abnormality of the septum pellucidum (HP:0007375)1.79357603
84Nephrogenic diabetes insipidus (HP:0009806)1.79146940
85Severe muscular hypotonia (HP:0006829)1.78905647
86Congenital sensorineural hearing impairment (HP:0008527)1.75920321
87Abnormal drinking behavior (HP:0030082)1.72995919
88Polydipsia (HP:0001959)1.72995919
89Impulsivity (HP:0100710)1.71176427
90Esotropia (HP:0000565)1.70808527
91Retinitis pigmentosa (HP:0000510)1.70136520
92Severe visual impairment (HP:0001141)1.68447851
93Meckel diverticulum (HP:0002245)1.67169050
94Vaginal atresia (HP:0000148)1.64272673
95Aplasia/Hypoplasia of the macula (HP:0008059)1.62700453
96Concave nail (HP:0001598)1.62310460
97Poor coordination (HP:0002370)1.61383866
98Acute necrotizing encephalopathy (HP:0006965)1.60978228
99Increased CSF lactate (HP:0002490)1.60950574
100Aplasia/Hypoplasia of the uvula (HP:0010293)1.60507550

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.95260083
2TRIM283.73500162
3STK162.98892315
4WNK32.80260467
5NUAK12.45447507
6CDK192.35988548
7MAP4K22.27478912
8PINK12.12506284
9ADRBK22.06107150
10BMPR1B2.05437931
11EIF2AK31.91333794
12SRPK11.86378836
13MAPK131.75909716
14BUB11.74615894
15TAOK31.73120448
16GRK11.69410305
17ZAK1.59541735
18PLK31.58295496
19INSRR1.52557481
20BRSK21.51248439
21CASK1.50307331
22TNIK1.49868765
23NTRK31.42403556
24OXSR11.41079050
25MAP3K41.37546522
26ACVR1B1.36704040
27MARK11.28524247
28PLK11.22634611
29NEK61.21468663
30FGFR21.20122224
31PLK21.18985219
32STK391.14910820
33DYRK31.10894254
34VRK11.07004737
35MARK31.02715257
36PAK31.01017158
37PRKCI1.00961174
38PRKCG1.00481929
39PDK21.00212575
40LATS20.99935187
41CSNK1G10.99688022
42STK38L0.96769821
43DYRK20.96721035
44WNK40.94273525
45PRKCE0.92190547
46EPHA40.91654246
47BRSK10.90897465
48PKN10.90412836
49PLK40.87278774
50STK30.86584082
51MAP3K90.85068332
52NEK20.83304952
53MAP2K70.82576483
54CSNK1G20.81530762
55CSNK1G30.80377857
56VRK20.78145793
57TAF10.77297250
58CSNK1E0.73723351
59TLK10.71302931
60TESK20.70828662
61WEE10.68032160
62MUSK0.67462247
63NME10.66424181
64CSNK1A1L0.60678169
65MKNK20.58500548
66CAMK10.56404584
67AURKA0.55526893
68CHEK20.54962567
69GSK3A0.54615063
70BCR0.52844440
71CSNK1A10.51314608
72ADRBK10.51238027
73CSNK2A10.51148362
74DYRK1A0.50127248
75CHEK10.49874983
76GRK50.49723189
77AURKB0.49432463
78PRKCQ0.48699628
79MST40.48329994
80PRKACA0.48263606
81CSNK1D0.47380840
82MAP3K120.46834593
83CSNK2A20.46332303
84PRKG10.45903711
85TIE10.45350792
86PRKCZ0.44720337
87ATR0.44291814
88ATM0.42830573
89PRKAA10.41666425
90PNCK0.39068047
91STK110.38293448
92MINK10.38100734
93STK240.37300262
94CAMK2A0.37209257
95EIF2AK10.36638430
96PRKACB0.35316339
97TGFBR10.35209174
98NTRK20.35194407
99CDK70.35061778
100CDC70.34309779

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal transcription factors_Homo sapiens_hsa030224.49578849
2RNA polymerase_Homo sapiens_hsa030202.78022203
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.44242820
4Regulation of autophagy_Homo sapiens_hsa041402.44214792
5Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.41262693
6Protein export_Homo sapiens_hsa030602.34460162
7Maturity onset diabetes of the young_Homo sapiens_hsa049502.33000445
8Taste transduction_Homo sapiens_hsa047422.12184448
9Phototransduction_Homo sapiens_hsa047442.07521657
10Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.96574551
11Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.96001170
12Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.80900792
13Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.79531695
14Nicotine addiction_Homo sapiens_hsa050331.76271303
15RNA transport_Homo sapiens_hsa030131.69485513
16Linoleic acid metabolism_Homo sapiens_hsa005911.69367491
17Folate biosynthesis_Homo sapiens_hsa007901.67869826
18Butanoate metabolism_Homo sapiens_hsa006501.67179513
19Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.66051556
20Oxidative phosphorylation_Homo sapiens_hsa001901.63739235
21mRNA surveillance pathway_Homo sapiens_hsa030151.62756247
22Ribosome_Homo sapiens_hsa030101.59927455
23RNA degradation_Homo sapiens_hsa030181.57220165
24Ovarian steroidogenesis_Homo sapiens_hsa049131.54738433
25Caffeine metabolism_Homo sapiens_hsa002321.53423315
26Parkinsons disease_Homo sapiens_hsa050121.52819774
27Olfactory transduction_Homo sapiens_hsa047401.52369345
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.50235921
29Sulfur metabolism_Homo sapiens_hsa009201.48836941
30Fanconi anemia pathway_Homo sapiens_hsa034601.45700343
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.45675156
32Steroid biosynthesis_Homo sapiens_hsa001001.44121843
33Nitrogen metabolism_Homo sapiens_hsa009101.42524231
34Huntingtons disease_Homo sapiens_hsa050161.37511537
35Ether lipid metabolism_Homo sapiens_hsa005651.37501974
36Homologous recombination_Homo sapiens_hsa034401.32994234
37Cardiac muscle contraction_Homo sapiens_hsa042601.29743195
38Propanoate metabolism_Homo sapiens_hsa006401.26485495
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.24843131
40Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.22045610
41Insulin secretion_Homo sapiens_hsa049111.21674110
42Oocyte meiosis_Homo sapiens_hsa041141.21345147
43Dorso-ventral axis formation_Homo sapiens_hsa043201.19391011
44p53 signaling pathway_Homo sapiens_hsa041151.18662720
45ABC transporters_Homo sapiens_hsa020101.13238739
46Selenocompound metabolism_Homo sapiens_hsa004501.01006515
47Cell cycle_Homo sapiens_hsa041100.97388055
48Morphine addiction_Homo sapiens_hsa050320.96419078
49Serotonergic synapse_Homo sapiens_hsa047260.95186058
50Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.90269464
51Fatty acid biosynthesis_Homo sapiens_hsa000610.89894142
52Spliceosome_Homo sapiens_hsa030400.86083470
53GABAergic synapse_Homo sapiens_hsa047270.85296573
54Tryptophan metabolism_Homo sapiens_hsa003800.83489807
55Purine metabolism_Homo sapiens_hsa002300.80698144
56Pyrimidine metabolism_Homo sapiens_hsa002400.79405574
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.79280023
58Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.77040853
59Retinol metabolism_Homo sapiens_hsa008300.76463028
60Proteasome_Homo sapiens_hsa030500.76261072
61Chemical carcinogenesis_Homo sapiens_hsa052040.75051839
62Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.70322516
63Alzheimers disease_Homo sapiens_hsa050100.70071182
64Peroxisome_Homo sapiens_hsa041460.69318235
65Fatty acid elongation_Homo sapiens_hsa000620.69254280
66Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.68783263
67Glutamatergic synapse_Homo sapiens_hsa047240.68530366
68One carbon pool by folate_Homo sapiens_hsa006700.68278594
69Circadian entrainment_Homo sapiens_hsa047130.64366538
70Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.62426707
71Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.60674451
72Nucleotide excision repair_Homo sapiens_hsa034200.59091390
73Steroid hormone biosynthesis_Homo sapiens_hsa001400.58763219
74Fat digestion and absorption_Homo sapiens_hsa049750.58326201
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.57822510
76Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.57603677
77Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.55293266
78Metabolic pathways_Homo sapiens_hsa011000.52685813
79Hedgehog signaling pathway_Homo sapiens_hsa043400.52643067
80Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.51627321
81Arachidonic acid metabolism_Homo sapiens_hsa005900.49723696
82Collecting duct acid secretion_Homo sapiens_hsa049660.48925991
83Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.47648028
84Amphetamine addiction_Homo sapiens_hsa050310.44163586
85Calcium signaling pathway_Homo sapiens_hsa040200.43394960
86Dopaminergic synapse_Homo sapiens_hsa047280.42293016
87Circadian rhythm_Homo sapiens_hsa047100.42002673
88Base excision repair_Homo sapiens_hsa034100.41659308
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40812641
90Mineral absorption_Homo sapiens_hsa049780.39916606
91Mismatch repair_Homo sapiens_hsa034300.39711036
92Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.38662546
93Long-term depression_Homo sapiens_hsa047300.35548842
94Arginine and proline metabolism_Homo sapiens_hsa003300.35007532
95beta-Alanine metabolism_Homo sapiens_hsa004100.34263666
96Fatty acid metabolism_Homo sapiens_hsa012120.32084758
97Sphingolipid metabolism_Homo sapiens_hsa006000.30843161
98Non-homologous end-joining_Homo sapiens_hsa034500.29264487
99Wnt signaling pathway_Homo sapiens_hsa043100.28922059
100Salivary secretion_Homo sapiens_hsa049700.28073605

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