CATSPERG

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: CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.54708229
2response to pheromone (GO:0019236)4.95969787
3L-fucose catabolic process (GO:0042355)4.83549385
4fucose catabolic process (GO:0019317)4.83549385
5L-fucose metabolic process (GO:0042354)4.83549385
6cellular ketone body metabolic process (GO:0046950)3.96563284
7tryptophan catabolic process (GO:0006569)3.94916198
8indole-containing compound catabolic process (GO:0042436)3.94916198
9indolalkylamine catabolic process (GO:0046218)3.94916198
10kynurenine metabolic process (GO:0070189)3.89706051
11protein polyglutamylation (GO:0018095)3.81733587
12DNA deamination (GO:0045006)3.77460476
13indolalkylamine metabolic process (GO:0006586)3.74626851
14regulation of cilium movement (GO:0003352)3.71088954
15sperm motility (GO:0030317)3.65797128
16detection of light stimulus involved in visual perception (GO:0050908)3.59249536
17detection of light stimulus involved in sensory perception (GO:0050962)3.59249536
18ketone body metabolic process (GO:1902224)3.55645914
19detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.40234882
20piRNA metabolic process (GO:0034587)3.39351216
21epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.33373447
22tryptophan metabolic process (GO:0006568)3.30940191
23epithelial cilium movement (GO:0003351)3.25815950
24nonmotile primary cilium assembly (GO:0035058)3.24372230
25axoneme assembly (GO:0035082)3.16466729
26acrosome reaction (GO:0007340)3.13238759
27negative regulation of telomere maintenance (GO:0032205)3.09119664
28gamma-aminobutyric acid transport (GO:0015812)3.07008952
29preassembly of GPI anchor in ER membrane (GO:0016254)3.02594851
30amine catabolic process (GO:0009310)3.02579314
31cellular biogenic amine catabolic process (GO:0042402)3.02579314
32mitochondrial respiratory chain complex I assembly (GO:0032981)3.02133481
33NADH dehydrogenase complex assembly (GO:0010257)3.02133481
34mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.02133481
35protein complex biogenesis (GO:0070271)2.99621530
36platelet dense granule organization (GO:0060155)2.98916239
37negative regulation of mast cell activation (GO:0033004)2.98820694
38cornea development in camera-type eye (GO:0061303)2.97322965
39regulation of microtubule-based movement (GO:0060632)2.96380576
40water-soluble vitamin biosynthetic process (GO:0042364)2.95589216
41DNA methylation involved in gamete generation (GO:0043046)2.90887164
42establishment of protein localization to Golgi (GO:0072600)2.89671937
43* multicellular organism reproduction (GO:0032504)2.87491434
44regulation of action potential (GO:0098900)2.85821218
45sulfation (GO:0051923)2.84349294
46indole-containing compound metabolic process (GO:0042430)2.82520220
47protein K11-linked deubiquitination (GO:0035871)2.80092063
48neuronal action potential (GO:0019228)2.79202903
49respiratory chain complex IV assembly (GO:0008535)2.78578764
50kidney morphogenesis (GO:0060993)2.75566877
51cilium organization (GO:0044782)2.74353291
52primary amino compound metabolic process (GO:1901160)2.71120390
53protein localization to cilium (GO:0061512)2.70592134
54mitochondrial respiratory chain complex assembly (GO:0033108)2.70068469
55behavioral response to ethanol (GO:0048149)2.70001171
56cilium movement (GO:0003341)2.69496294
57retinal cone cell development (GO:0046549)2.68542475
58photoreceptor cell maintenance (GO:0045494)2.68530782
59cilium morphogenesis (GO:0060271)2.67356567
60neural tube formation (GO:0001841)2.66332809
61mannosylation (GO:0097502)2.65133945
62nephron tubule morphogenesis (GO:0072078)2.64849300
63nephron epithelium morphogenesis (GO:0072088)2.64849300
64cilium assembly (GO:0042384)2.64805485
65cilium or flagellum-dependent cell motility (GO:0001539)2.64304592
66reflex (GO:0060004)2.63315822
67regulation of glucokinase activity (GO:0033131)2.60859456
68regulation of hexokinase activity (GO:1903299)2.60859456
69male meiosis I (GO:0007141)2.59908608
70fucosylation (GO:0036065)2.59435671
71regulation of neurotransmitter uptake (GO:0051580)2.59381232
72photoreceptor cell development (GO:0042461)2.59304818
73positive regulation of defense response to virus by host (GO:0002230)2.59133378
74protein targeting to Golgi (GO:0000042)2.57919555
75protein-cofactor linkage (GO:0018065)2.57732286
76pyrimidine nucleobase catabolic process (GO:0006208)2.57341705
77regulation of rhodopsin mediated signaling pathway (GO:0022400)2.57016219
78RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.56877741
79tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.56877741
80auditory receptor cell stereocilium organization (GO:0060088)2.56560934
81synaptic transmission, cholinergic (GO:0007271)2.55865595
82spinal cord motor neuron differentiation (GO:0021522)2.55506732
83rhodopsin mediated signaling pathway (GO:0016056)2.53874563
84L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.53079188
85cAMP catabolic process (GO:0006198)2.52582519
86G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.52131148
87positive regulation of fatty acid transport (GO:2000193)2.51713113
88cytochrome complex assembly (GO:0017004)2.51627900
89somite development (GO:0061053)2.50001437
90protein localization to Golgi apparatus (GO:0034067)2.45826970
91regulation of translation, ncRNA-mediated (GO:0045974)2.44761791
92negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.44761791
93negative regulation of translation, ncRNA-mediated (GO:0040033)2.44761791
94regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.44602816
95NAD biosynthetic process (GO:0009435)2.44334593
96RNA destabilization (GO:0050779)2.44326617
97fusion of sperm to egg plasma membrane (GO:0007342)2.44017799
98negative regulation of synaptic transmission, GABAergic (GO:0032229)2.43151433
99male meiosis (GO:0007140)2.43073927
100transmission of nerve impulse (GO:0019226)2.41492875

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.96248755
2EZH2_22144423_ChIP-Seq_EOC_Human3.20735190
3VDR_22108803_ChIP-Seq_LS180_Human3.09916645
4GBX2_23144817_ChIP-Seq_PC3_Human2.89670794
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.60603238
6ZFP57_27257070_Chip-Seq_ESCs_Mouse2.37592187
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.36017840
8CTBP2_25329375_ChIP-Seq_LNCAP_Human2.28578680
9IGF1R_20145208_ChIP-Seq_DFB_Human2.13552551
10CTBP1_25329375_ChIP-Seq_LNCAP_Human2.10543966
11TAF15_26573619_Chip-Seq_HEK293_Human2.03720291
12POU3F2_20337985_ChIP-ChIP_501MEL_Human2.03001248
13FLI1_27457419_Chip-Seq_LIVER_Mouse1.95473334
14ER_23166858_ChIP-Seq_MCF-7_Human1.94760769
15FUS_26573619_Chip-Seq_HEK293_Human1.89281543
16P300_19829295_ChIP-Seq_ESCs_Human1.88841798
17EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.87712027
18EWS_26573619_Chip-Seq_HEK293_Human1.82573825
19TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.78246634
20* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.70872786
21REST_21632747_ChIP-Seq_MESCs_Mouse1.59180053
22TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.57586907
23POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.57586907
24FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.57262519
25IRF1_19129219_ChIP-ChIP_H3396_Human1.56840611
26TP53_22573176_ChIP-Seq_HFKS_Human1.55724125
27PCGF2_27294783_Chip-Seq_ESCs_Mouse1.54515145
28UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.54181990
29* CBP_20019798_ChIP-Seq_JUKART_Human1.53380117
30* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.53380117
31BMI1_23680149_ChIP-Seq_NPCS_Mouse1.50992326
32STAT3_23295773_ChIP-Seq_U87_Human1.50512961
33AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.47999005
34MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.47873454
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.47550242
36AR_25329375_ChIP-Seq_VCAP_Human1.47178029
37BCAT_22108803_ChIP-Seq_LS180_Human1.46694057
38MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43723084
39SMAD4_21799915_ChIP-Seq_A2780_Human1.42126554
40SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39588219
41TCF4_23295773_ChIP-Seq_U87_Human1.39118820
42GATA3_21878914_ChIP-Seq_MCF-7_Human1.39071929
43AR_21572438_ChIP-Seq_LNCaP_Human1.38799591
44SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.38742093
45* SOX2_19829295_ChIP-Seq_ESCs_Human1.36270906
46* NANOG_19829295_ChIP-Seq_ESCs_Human1.36270906
47PCGF2_27294783_Chip-Seq_NPCs_Mouse1.34627648
48FOXA1_27270436_Chip-Seq_PROSTATE_Human1.34564778
49FOXA1_25329375_ChIP-Seq_VCAP_Human1.34564778
50CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.33600367
51SALL1_21062744_ChIP-ChIP_HESCs_Human1.33187109
52NR3C1_21868756_ChIP-Seq_MCF10A_Human1.31650578
53ETV2_25802403_ChIP-Seq_MESCs_Mouse1.29785432
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.29658251
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.29039166
56EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.26908061
57SMAD3_21741376_ChIP-Seq_EPCs_Human1.25235357
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.24182320
59GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.23488849
60SMAD4_21741376_ChIP-Seq_EPCs_Human1.23337176
61RUNX2_22187159_ChIP-Seq_PCA_Human1.22194858
62ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.21579547
63KLF5_20875108_ChIP-Seq_MESCs_Mouse1.21215945
64FOXA1_21572438_ChIP-Seq_LNCaP_Human1.21136034
65NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.20834229
66NCOR_22424771_ChIP-Seq_293T_Human1.20285868
67DROSHA_22980978_ChIP-Seq_HELA_Human1.20080641
68TCF4_22108803_ChIP-Seq_LS180_Human1.19662830
69SUZ12_27294783_Chip-Seq_NPCs_Mouse1.19584518
70RNF2_27304074_Chip-Seq_NSC_Mouse1.18981497
71ERA_21632823_ChIP-Seq_H3396_Human1.18247114
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.18018625
73NOTCH1_21737748_ChIP-Seq_TLL_Human1.17689607
74HOXB7_26014856_ChIP-Seq_BT474_Human1.17589309
75PRDM14_20953172_ChIP-Seq_ESCs_Human1.17088503
76MYC_18940864_ChIP-ChIP_HL60_Human1.16045883
77NFE2_27457419_Chip-Seq_LIVER_Mouse1.15832209
78MYC_19829295_ChIP-Seq_ESCs_Human1.12465002
79RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.12224011
80AR_20517297_ChIP-Seq_VCAP_Human1.11282352
81FLI1_21867929_ChIP-Seq_TH2_Mouse1.11261651
82EZH2_27294783_Chip-Seq_NPCs_Mouse1.09426781
83EGR1_23403033_ChIP-Seq_LIVER_Mouse1.07351183
84NANOG_20526341_ChIP-Seq_ESCs_Human1.06274352
85PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.05488518
86REST_18959480_ChIP-ChIP_MESCs_Mouse1.02140305
87TAF2_19829295_ChIP-Seq_ESCs_Human1.01954321
88AUTS2_25519132_ChIP-Seq_293T-REX_Human1.01004418
89EZH2_27294783_Chip-Seq_ESCs_Mouse1.00306219
90TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00286622
91CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.00126153
92HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.97863466
93NANOG_18555785_Chip-Seq_ESCs_Mouse0.97411520
94CRX_20693478_ChIP-Seq_RETINA_Mouse0.94751123
95FOXH1_21741376_ChIP-Seq_EPCs_Human0.94510756
96* OCT4_20526341_ChIP-Seq_ESCs_Human0.94362244
97EZH2_27304074_Chip-Seq_ESCs_Mouse0.94345468
98JARID2_20064375_ChIP-Seq_MESCs_Mouse0.94268932
99CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.93393782
100SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.93096931

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation3.08391903
2MP0003195_calcinosis2.66254042
3MP0005551_abnormal_eye_electrophysiolog2.53932983
4MP0003646_muscle_fatigue2.50009773
5MP0006292_abnormal_olfactory_placode2.45469242
6MP0005410_abnormal_fertilization2.30617744
7MP0002102_abnormal_ear_morphology2.28059837
8MP0003787_abnormal_imprinting2.26028816
9MP0001968_abnormal_touch/_nociception2.25784164
10MP0009046_muscle_twitch2.10918470
11MP0002638_abnormal_pupillary_reflex2.02983006
12MP0005645_abnormal_hypothalamus_physiol2.02081590
13MP0009745_abnormal_behavioral_response1.92514922
14MP0000569_abnormal_digit_pigmentation1.92114749
15MP0002876_abnormal_thyroid_physiology1.90001055
16MP0008875_abnormal_xenobiotic_pharmacok1.88255311
17MP0008872_abnormal_physiological_respon1.87797699
18MP0002653_abnormal_ependyma_morphology1.83949416
19MP0003011_delayed_dark_adaptation1.83559816
20MP0002736_abnormal_nociception_after1.83341977
21MP0005646_abnormal_pituitary_gland1.80475014
22MP0003880_abnormal_central_pattern1.78745633
23MP0002837_dystrophic_cardiac_calcinosis1.78671774
24MP0004043_abnormal_pH_regulation1.76964671
25MP0003136_yellow_coat_color1.75726013
26MP0006072_abnormal_retinal_apoptosis1.75644101
27MP0004142_abnormal_muscle_tone1.73853397
28MP0004147_increased_porphyrin_level1.72073481
29MP0002735_abnormal_chemical_nociception1.71361213
30MP0002272_abnormal_nervous_system1.71233449
31MP0003878_abnormal_ear_physiology1.70295510
32MP0005377_hearing/vestibular/ear_phenot1.70295510
33MP0006276_abnormal_autonomic_nervous1.65399142
34MP0005253_abnormal_eye_physiology1.64796609
35MP0001486_abnormal_startle_reflex1.62988984
36MP0004885_abnormal_endolymph1.57594085
37MP0001501_abnormal_sleep_pattern1.56205694
38MP0001986_abnormal_taste_sensitivity1.54477405
39MP0002938_white_spotting1.48486278
40MP0001485_abnormal_pinna_reflex1.45946456
41MP0004742_abnormal_vestibular_system1.42551158
42MP0002572_abnormal_emotion/affect_behav1.41766022
43MP0005084_abnormal_gallbladder_morpholo1.39258425
44MP0004133_heterotaxia1.38453530
45MP0002557_abnormal_social/conspecific_i1.37258270
46MP0000631_abnormal_neuroendocrine_gland1.35100386
47MP0002064_seizures1.32253374
48MP0001970_abnormal_pain_threshold1.30249998
49MP0003698_abnormal_male_reproductive1.28913355
50MP0000427_abnormal_hair_cycle1.27363127
51MP0001984_abnormal_olfaction1.27273550
52MP0002733_abnormal_thermal_nociception1.26616339
53MP0000372_irregular_coat_pigmentation1.25853332
54MP0002138_abnormal_hepatobiliary_system1.20983684
55MP0002928_abnormal_bile_duct1.20536159
56MP0005379_endocrine/exocrine_gland_phen1.19454336
57MP0001905_abnormal_dopamine_level1.18171967
58MP0008789_abnormal_olfactory_epithelium1.16884500
59MP0002163_abnormal_gland_morphology1.14800234
60MP0005174_abnormal_tail_pigmentation1.13164316
61MP0002067_abnormal_sensory_capabilities1.11878622
62MP0004924_abnormal_behavior1.11533274
63MP0005386_behavior/neurological_phenoty1.11533274
64MP0004145_abnormal_muscle_electrophysio1.11099631
65MP0003635_abnormal_synaptic_transmissio1.10065716
66MP0002234_abnormal_pharynx_morphology1.09879165
67MP0002063_abnormal_learning/memory/cond1.08280443
68MP0001929_abnormal_gametogenesis1.07040412
69MP0005389_reproductive_system_phenotype1.04877827
70MP0008995_early_reproductive_senescence1.03951483
71MP0001529_abnormal_vocalization1.03259946
72MP0005167_abnormal_blood-brain_barrier1.01753578
73MP0003718_maternal_effect1.01382192
74MP0002822_catalepsy1.01220748
75MP0001919_abnormal_reproductive_system1.01190194
76MP0002160_abnormal_reproductive_system1.00723098
77MP0005195_abnormal_posterior_eye0.99548197
78MP0002734_abnormal_mechanical_nocicepti0.99392202
79MP0001502_abnormal_circadian_rhythm0.98462414
80MP0010386_abnormal_urinary_bladder0.97725707
81MP0000230_abnormal_systemic_arterial0.94694225
82MP0005085_abnormal_gallbladder_physiolo0.94339442
83MP0000026_abnormal_inner_ear0.93548559
84MP0002229_neurodegeneration0.93302129
85MP0003121_genomic_imprinting0.91348749
86MP0005423_abnormal_somatic_nervous0.90994830
87MP0002752_abnormal_somatic_nervous0.89967122
88MP0001440_abnormal_grooming_behavior0.87868284
89MP0005499_abnormal_olfactory_system0.85768582
90MP0005394_taste/olfaction_phenotype0.85768582
91MP0000778_abnormal_nervous_system0.84992088
92MP0005332_abnormal_amino_acid0.84876228
93MP0003283_abnormal_digestive_organ0.84662720
94MP0009764_decreased_sensitivity_to0.84146171
95MP0002210_abnormal_sex_determination0.82740847
96MP0002095_abnormal_skin_pigmentation0.82465839
97MP0000538_abnormal_urinary_bladder0.82241237
98MP0001963_abnormal_hearing_physiology0.81949542
99MP0003252_abnormal_bile_duct0.81629500
100MP0003137_abnormal_impulse_conducting0.81548928

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.50496432
2Congenital stationary night blindness (HP:0007642)4.34522714
3Molar tooth sign on MRI (HP:0002419)4.03182368
4Abnormality of midbrain morphology (HP:0002418)4.03182368
5Pancreatic fibrosis (HP:0100732)3.94742122
6True hermaphroditism (HP:0010459)3.84054950
7Nephronophthisis (HP:0000090)3.81049725
8Type II lissencephaly (HP:0007260)3.64744445
9Attenuation of retinal blood vessels (HP:0007843)3.44779128
10Abnormality of the renal cortex (HP:0011035)3.37294148
11Abnormal rod and cone electroretinograms (HP:0008323)3.35946739
12Abnormality of the renal medulla (HP:0100957)3.31913589
13Hyperventilation (HP:0002883)3.01934965
14Medial flaring of the eyebrow (HP:0010747)3.00994414
15Chronic hepatic failure (HP:0100626)2.99720121
16Pendular nystagmus (HP:0012043)2.86076169
17Inability to walk (HP:0002540)2.83441233
18Tubular atrophy (HP:0000092)2.76457990
19Abnormal drinking behavior (HP:0030082)2.73900087
20Polydipsia (HP:0001959)2.73900087
21Abolished electroretinogram (ERG) (HP:0000550)2.72332805
22Cystic liver disease (HP:0006706)2.67302383
23Decreased central vision (HP:0007663)2.65699170
24Cerebellar dysplasia (HP:0007033)2.62407526
25Lissencephaly (HP:0001339)2.61072438
26Absent rod-and cone-mediated responses on ERG (HP:0007688)2.54664499
27Keratoconus (HP:0000563)2.52879180
28Increased corneal curvature (HP:0100692)2.52879180
29Gait imbalance (HP:0002141)2.48788490
30Renal cortical cysts (HP:0000803)2.46241696
31Sclerocornea (HP:0000647)2.40793733
32Abnormality of alanine metabolism (HP:0010916)2.40149704
33Hyperalaninemia (HP:0003348)2.40149704
34Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.40149704
35Progressive cerebellar ataxia (HP:0002073)2.37255086
36Congenital primary aphakia (HP:0007707)2.36474442
37Dynein arm defect of respiratory motile cilia (HP:0012255)2.30184534
38Absent/shortened dynein arms (HP:0200106)2.30184534
39Nephrogenic diabetes insipidus (HP:0009806)2.29650369
40Gaze-evoked nystagmus (HP:0000640)2.29605595
41Optic nerve hypoplasia (HP:0000609)2.27185973
42Polyuria (HP:0000103)2.26859061
43Bony spicule pigmentary retinopathy (HP:0007737)2.26596773
44Congenital hepatic fibrosis (HP:0002612)2.19397423
45Stomach cancer (HP:0012126)2.19197169
46Large for gestational age (HP:0001520)2.17566362
47Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.16667830
48Anencephaly (HP:0002323)2.15551479
49Progressive inability to walk (HP:0002505)2.15246226
50Genetic anticipation (HP:0003743)2.12466202
51Severe visual impairment (HP:0001141)2.10100150
52Aplasia/Hypoplasia of the fovea (HP:0008060)2.10018637
53Hypoplasia of the fovea (HP:0007750)2.10018637
54Retinal dysplasia (HP:0007973)2.09919403
55Genital tract atresia (HP:0001827)2.09672326
56Congenital sensorineural hearing impairment (HP:0008527)2.09653450
57Decreased electroretinogram (ERG) amplitude (HP:0000654)2.06685305
58Decreased circulating renin level (HP:0003351)2.05897091
59Abnormality of macular pigmentation (HP:0008002)2.04642600
60Chorioretinal atrophy (HP:0000533)2.04597471
61Male pseudohermaphroditism (HP:0000037)2.04508924
62Vaginal atresia (HP:0000148)2.04237055
63Broad-based gait (HP:0002136)2.03994942
64Aplasia/Hypoplasia of the tibia (HP:0005772)2.03471164
65Abnormal respiratory motile cilium morphology (HP:0005938)2.00565942
66Abnormal respiratory epithelium morphology (HP:0012253)2.00565942
67Aplasia/Hypoplasia of the tongue (HP:0010295)1.98775587
68Clumsiness (HP:0002312)1.97777300
69Pachygyria (HP:0001302)1.96784501
70Protruding tongue (HP:0010808)1.95758358
71Furrowed tongue (HP:0000221)1.95428106
72Bile duct proliferation (HP:0001408)1.94754237
73Abnormal biliary tract physiology (HP:0012439)1.94754237
74Patellar aplasia (HP:0006443)1.91533390
75Congenital, generalized hypertrichosis (HP:0004540)1.90629373
76Abnormal urine output (HP:0012590)1.88431527
77Abnormality of the pons (HP:0007361)1.87610901
78Postaxial foot polydactyly (HP:0001830)1.84761450
79Abnormal ciliary motility (HP:0012262)1.84305848
80Hypoplasia of the pons (HP:0012110)1.83251210
81Aplasia/Hypoplasia of the patella (HP:0006498)1.82698740
82Poor coordination (HP:0002370)1.81955866
83Mitochondrial inheritance (HP:0001427)1.78988836
84Methylmalonic acidemia (HP:0002912)1.78387570
85Absent speech (HP:0001344)1.77787848
86Concave nail (HP:0001598)1.76242719
87Febrile seizures (HP:0002373)1.76134401
88Fair hair (HP:0002286)1.75633592
89Severe muscular hypotonia (HP:0006829)1.75202456
90Bulbous nose (HP:0000414)1.74576658
91Increased CSF lactate (HP:0002490)1.73910814
92Hemiparesis (HP:0001269)1.73749833
93Occipital encephalocele (HP:0002085)1.73306278
94Optic disc pallor (HP:0000543)1.71304777
95Ketosis (HP:0001946)1.70502888
96Abnormality of the fovea (HP:0000493)1.69726546
97Hypothermia (HP:0002045)1.69116655
98Hyperglycinemia (HP:0002154)1.68995233
99Birth length less than 3rd percentile (HP:0003561)1.66854522
100Abnormality of renal excretion (HP:0011036)1.65057339

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.47800309
2ADRBK23.35847061
3BMPR1B3.00942798
4MAP4K22.87282663
5ZAK2.85321935
6WNK32.64717633
7GRK12.60219237
8ACVR1B2.54285697
9TLK12.53166484
10WNK42.37799511
11INSRR2.33348659
12NUAK12.29007262
13CASK2.26132903
14TAOK32.22045382
15PINK12.21339213
16MAPK132.09991820
17TXK1.67676391
18DAPK21.64641988
19MAP3K41.45480148
20STK391.37035508
21OXSR11.35375315
22ADRBK11.22001245
23MARK11.20226817
24PLK41.16391156
25NTRK31.13212089
26MAPK151.12175019
27TNIK1.09708678
28PAK31.09460537
29DYRK21.08706815
30TRIM281.06048752
31STK38L1.02693623
32MAP2K61.02579024
33MUSK0.96654202
34PRKCG0.95732228
35TGFBR10.95646134
36PTK2B0.93092181
37CAMKK20.92003131
38PRKCE0.91723760
39MKNK20.91457802
40PNCK0.87765460
41BCKDK0.85705298
42PLK20.84820300
43SIK20.84015874
44IKBKB0.83488702
45CSNK1G20.83315158
46MAP2K70.79971976
47PHKG10.79273292
48PHKG20.79273292
49TNK20.76791450
50CSNK1G10.75458223
51CSNK1G30.75364869
52MAPKAPK30.75226702
53NTRK20.72583819
54FGFR20.71748057
55TIE10.70664207
56VRK10.68207296
57STK30.67426586
58PIK3CA0.67007301
59CAMK10.62199429
60PKN10.60976781
61MAPKAPK50.60973485
62RPS6KA50.60387169
63PRKCQ0.60181971
64CSNK1A1L0.59078236
65KIT0.56849549
66FER0.56760192
67STK110.54572367
68CAMK2A0.53632037
69PRKCZ0.53139651
70CHUK0.52686964
71CSNK1A10.50475248
72TEC0.50020077
73PRKACA0.48222935
74BRSK20.48088635
75MAP2K20.45853667
76BCR0.45822906
77EPHA40.45569749
78CSNK1D0.43693284
79NEK20.43662340
80MST40.42818126
81ITK0.42187479
82SYK0.40092149
83FES0.39717442
84RPS6KA60.39482595
85EPHA30.36998606
86GRK60.36963771
87ERBB30.36775349
88PRKCI0.36108761
89IRAK10.35559614
90PRKCA0.34308265
91PRKAA10.33950244
92STK160.33305749
93CAMK40.32700143
94AKT30.30768272
95PRKAA20.30693955
96NME10.30211871
97PRKG10.30138405
98ERBB20.30072544
99CDK30.30006168
100MAP2K10.29940232

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047442.97514079
2Linoleic acid metabolism_Homo sapiens_hsa005912.67913885
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.62087404
4alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.57683907
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.49594900
6Nitrogen metabolism_Homo sapiens_hsa009102.46539379
7Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.31982112
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.30860461
9Butanoate metabolism_Homo sapiens_hsa006502.30018671
10Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.22752997
11Maturity onset diabetes of the young_Homo sapiens_hsa049502.19581964
12Nicotine addiction_Homo sapiens_hsa050332.13255322
13Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.07450012
14Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.03082898
15Selenocompound metabolism_Homo sapiens_hsa004502.03061935
16Caffeine metabolism_Homo sapiens_hsa002321.91244287
17Oxidative phosphorylation_Homo sapiens_hsa001901.86658010
18Tryptophan metabolism_Homo sapiens_hsa003801.80106226
19Ether lipid metabolism_Homo sapiens_hsa005651.79893590
20Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.60084868
21Intestinal immune network for IgA production_Homo sapiens_hsa046721.56427668
22Olfactory transduction_Homo sapiens_hsa047401.54378331
23Homologous recombination_Homo sapiens_hsa034401.52584651
24Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.52086089
25Basal transcription factors_Homo sapiens_hsa030221.49033085
26Taste transduction_Homo sapiens_hsa047421.48855864
27Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.45014907
28Fanconi anemia pathway_Homo sapiens_hsa034601.41753860
29ABC transporters_Homo sapiens_hsa020101.35461630
30Morphine addiction_Homo sapiens_hsa050321.33001604
31Primary bile acid biosynthesis_Homo sapiens_hsa001201.31161634
32Parkinsons disease_Homo sapiens_hsa050121.29897422
33Asthma_Homo sapiens_hsa053101.22949163
34RNA polymerase_Homo sapiens_hsa030201.22545320
35Steroid hormone biosynthesis_Homo sapiens_hsa001401.22462461
36Peroxisome_Homo sapiens_hsa041461.15852333
37Protein export_Homo sapiens_hsa030601.14116258
38Chemical carcinogenesis_Homo sapiens_hsa052041.10956898
39Propanoate metabolism_Homo sapiens_hsa006401.09490099
40Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.08597022
41Arachidonic acid metabolism_Homo sapiens_hsa005901.07426923
42Serotonergic synapse_Homo sapiens_hsa047261.02730358
43Retinol metabolism_Homo sapiens_hsa008301.01497703
44Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.99633057
45Insulin secretion_Homo sapiens_hsa049110.98721710
46Type I diabetes mellitus_Homo sapiens_hsa049400.98657390
47Cardiac muscle contraction_Homo sapiens_hsa042600.97454546
48Circadian entrainment_Homo sapiens_hsa047130.96763399
49Huntingtons disease_Homo sapiens_hsa050160.93474302
50GABAergic synapse_Homo sapiens_hsa047270.92303474
51Glutamatergic synapse_Homo sapiens_hsa047240.91931225
52Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.89073514
53RNA degradation_Homo sapiens_hsa030180.87150575
54Graft-versus-host disease_Homo sapiens_hsa053320.86143544
55Regulation of autophagy_Homo sapiens_hsa041400.84351902
56Sulfur relay system_Homo sapiens_hsa041220.83547052
57Allograft rejection_Homo sapiens_hsa053300.83140097
58Glycerolipid metabolism_Homo sapiens_hsa005610.82163637
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.81789531
60One carbon pool by folate_Homo sapiens_hsa006700.79651301
61Autoimmune thyroid disease_Homo sapiens_hsa053200.79267616
62Alzheimers disease_Homo sapiens_hsa050100.78183625
63Ovarian steroidogenesis_Homo sapiens_hsa049130.77583170
64Primary immunodeficiency_Homo sapiens_hsa053400.77385089
65Fat digestion and absorption_Homo sapiens_hsa049750.77052564
66Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.76163433
67Collecting duct acid secretion_Homo sapiens_hsa049660.72280394
68Fatty acid biosynthesis_Homo sapiens_hsa000610.72158192
69Histidine metabolism_Homo sapiens_hsa003400.66379922
70beta-Alanine metabolism_Homo sapiens_hsa004100.65637365
71Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.65430101
72Calcium signaling pathway_Homo sapiens_hsa040200.63933403
73Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.63164222
74Salivary secretion_Homo sapiens_hsa049700.62604077
75Glycerophospholipid metabolism_Homo sapiens_hsa005640.61555560
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58870557
77Sulfur metabolism_Homo sapiens_hsa009200.58843278
78Vitamin digestion and absorption_Homo sapiens_hsa049770.57707963
79Metabolic pathways_Homo sapiens_hsa011000.57691970
80Mineral absorption_Homo sapiens_hsa049780.55810800
81Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.54930402
82Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.54515152
83Purine metabolism_Homo sapiens_hsa002300.52149674
84Dopaminergic synapse_Homo sapiens_hsa047280.49971566
85Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49107388
86Cocaine addiction_Homo sapiens_hsa050300.48417983
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.48193240
88Dorso-ventral axis formation_Homo sapiens_hsa043200.48185379
89Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.46087015
90Pentose and glucuronate interconversions_Homo sapiens_hsa000400.41947501
91SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41770764
92Fatty acid degradation_Homo sapiens_hsa000710.41253218
93Long-term depression_Homo sapiens_hsa047300.37497333
94cAMP signaling pathway_Homo sapiens_hsa040240.37071421
95Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.35178232
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.34923001
97Amphetamine addiction_Homo sapiens_hsa050310.34680550
98Circadian rhythm_Homo sapiens_hsa047100.32961521
99Cholinergic synapse_Homo sapiens_hsa047250.30978341
100Rheumatoid arthritis_Homo sapiens_hsa053230.29693888

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