NPAP1

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: This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader-Willi syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1response to pheromone (GO:0019236)4.84036591
2detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.19532158
3behavioral response to nicotine (GO:0035095)4.13172405
4indolalkylamine metabolic process (GO:0006586)4.10046563
5tryptophan catabolic process (GO:0006569)3.86170434
6indole-containing compound catabolic process (GO:0042436)3.86170434
7indolalkylamine catabolic process (GO:0046218)3.86170434
8protein K11-linked deubiquitination (GO:0035871)3.75813309
9detection of light stimulus involved in visual perception (GO:0050908)3.74853372
10detection of light stimulus involved in sensory perception (GO:0050962)3.74853372
11photoreceptor cell maintenance (GO:0045494)3.68685829
12retinal cone cell development (GO:0046549)3.60860604
13L-fucose catabolic process (GO:0042355)3.56501527
14fucose catabolic process (GO:0019317)3.56501527
15L-fucose metabolic process (GO:0042354)3.56501527
16adaptation of signaling pathway (GO:0023058)3.53382239
17tryptophan metabolic process (GO:0006568)3.47868207
18axoneme assembly (GO:0035082)3.43929113
19G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.43118903
20neural tube formation (GO:0001841)3.38892716
21kynurenine metabolic process (GO:0070189)3.37863282
22auditory receptor cell stereocilium organization (GO:0060088)3.31656062
23DNA deamination (GO:0045006)3.28737393
24piRNA metabolic process (GO:0034587)3.27119536
25replication fork processing (GO:0031297)3.24269437
26platelet dense granule organization (GO:0060155)3.20848595
27epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.20236583
28cellular ketone body metabolic process (GO:0046950)3.20199577
29cilium or flagellum-dependent cell motility (GO:0001539)3.18541417
30proline transport (GO:0015824)3.17895439
31DNA double-strand break processing (GO:0000729)3.17123201
32reflex (GO:0060004)3.06789658
33negative regulation of cytosolic calcium ion concentration (GO:0051481)3.04386673
34signal peptide processing (GO:0006465)3.04384314
35inner ear receptor stereocilium organization (GO:0060122)2.98715229
36indole-containing compound metabolic process (GO:0042430)2.96767008
37protein prenylation (GO:0018342)2.95992039
38prenylation (GO:0097354)2.95992039
39tachykinin receptor signaling pathway (GO:0007217)2.95816105
40ketone body metabolic process (GO:1902224)2.95242047
41behavioral response to ethanol (GO:0048149)2.94570723
42regulation of meiosis I (GO:0060631)2.94561097
43epithelial cilium movement (GO:0003351)2.92774700
44establishment of protein localization to Golgi (GO:0072600)2.90897548
45negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.89116706
46negative regulation of translation, ncRNA-mediated (GO:0040033)2.89116706
47regulation of translation, ncRNA-mediated (GO:0045974)2.89116706
48respiratory chain complex IV assembly (GO:0008535)2.88215234
49nonmotile primary cilium assembly (GO:0035058)2.85968896
50recombinational repair (GO:0000725)2.85034301
51double-strand break repair via homologous recombination (GO:0000724)2.84869453
52cilium morphogenesis (GO:0060271)2.84818261
53reciprocal DNA recombination (GO:0035825)2.82466406
54reciprocal meiotic recombination (GO:0007131)2.82466406
55negative regulation of DNA-dependent DNA replication (GO:2000104)2.78138133
56photoreceptor cell development (GO:0042461)2.78041786
57regulation of cilium movement (GO:0003352)2.76633038
58cilium organization (GO:0044782)2.75438481
59DNA methylation involved in gamete generation (GO:0043046)2.73852273
60protein polyglutamylation (GO:0018095)2.72457579
61male meiosis (GO:0007140)2.69599267
62cilium assembly (GO:0042384)2.68277552
63detection of mechanical stimulus involved in sensory perception (GO:0050974)2.66584252
64regulation of nuclear cell cycle DNA replication (GO:0033262)2.66104960
65rRNA catabolic process (GO:0016075)2.61377136
66cornea development in camera-type eye (GO:0061303)2.61095662
67RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.59763830
68amine catabolic process (GO:0009310)2.58387717
69cellular biogenic amine catabolic process (GO:0042402)2.58387717
70neuronal action potential (GO:0019228)2.56644486
71dopamine transport (GO:0015872)2.56644175
72L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.54312498
73sulfation (GO:0051923)2.53702372
74eye photoreceptor cell development (GO:0042462)2.52431880
75negative regulation of mast cell activation (GO:0033004)2.51954732
76negative regulation of systemic arterial blood pressure (GO:0003085)2.51212509
77cilium movement (GO:0003341)2.50192942
78cytochrome complex assembly (GO:0017004)2.50189083
79rhodopsin mediated signaling pathway (GO:0016056)2.50099410
80meiotic chromosome segregation (GO:0045132)2.49902404
81cellular response to sterol (GO:0036315)2.49604678
82multicellular organism reproduction (GO:0032504)2.49112317
83gamma-aminobutyric acid transport (GO:0015812)2.48639907
84cAMP catabolic process (GO:0006198)2.48447346
85transmission of nerve impulse (GO:0019226)2.47923151
86intraciliary transport (GO:0042073)2.47437342
87serotonin metabolic process (GO:0042428)2.46492923
88spinal cord motor neuron differentiation (GO:0021522)2.46312847
89regulation of action potential (GO:0098900)2.46237675
90water-soluble vitamin biosynthetic process (GO:0042364)2.45860334
91regulation of rhodopsin mediated signaling pathway (GO:0022400)2.45178645
92regulation of hippo signaling (GO:0035330)2.44998958
93mannosylation (GO:0097502)2.44549667
94kidney morphogenesis (GO:0060993)2.42781137
95protein localization to cilium (GO:0061512)2.42412449
96cyclic nucleotide catabolic process (GO:0009214)2.42343510
97maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.41216340
98interkinetic nuclear migration (GO:0022027)2.40982821
99phosphatidylinositol acyl-chain remodeling (GO:0036149)2.40182617
100somite development (GO:0061053)2.40119339

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.34449945
2GBX2_23144817_ChIP-Seq_PC3_Human3.21907219
3VDR_22108803_ChIP-Seq_LS180_Human3.08059668
4ZFP57_27257070_Chip-Seq_ESCs_Mouse2.79444757
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.72442430
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.66070995
7IGF1R_20145208_ChIP-Seq_DFB_Human2.60668304
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.57146843
9TAF15_26573619_Chip-Seq_HEK293_Human2.45530101
10CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.41922401
11CTBP2_25329375_ChIP-Seq_LNCAP_Human2.31009475
12FLI1_27457419_Chip-Seq_LIVER_Mouse2.30625682
13FUS_26573619_Chip-Seq_HEK293_Human2.29266494
14P300_19829295_ChIP-Seq_ESCs_Human2.22686885
15EWS_26573619_Chip-Seq_HEK293_Human2.20692503
16AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.04425456
17CTBP1_25329375_ChIP-Seq_LNCAP_Human2.00261670
18ER_23166858_ChIP-Seq_MCF-7_Human1.98075825
19SALL1_21062744_ChIP-ChIP_HESCs_Human1.96791537
20SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.90800782
21PCGF2_27294783_Chip-Seq_ESCs_Mouse1.90250811
22EZH2_22144423_ChIP-Seq_EOC_Human1.89962634
23PIAS1_25552417_ChIP-Seq_VCAP_Human1.83288640
24BCAT_22108803_ChIP-Seq_LS180_Human1.75834864
25MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.75496215
26SMAD4_21799915_ChIP-Seq_A2780_Human1.75328609
27STAT3_23295773_ChIP-Seq_U87_Human1.73536432
28UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.68795717
29PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.66755114
30TCF4_23295773_ChIP-Seq_U87_Human1.64767221
31MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.60247946
32IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.58732625
33CBP_20019798_ChIP-Seq_JUKART_Human1.58732625
34SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.55666286
35FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.52831361
36AR_25329375_ChIP-Seq_VCAP_Human1.52655215
37PCGF2_27294783_Chip-Seq_NPCs_Mouse1.51863671
38EZH2_27294783_Chip-Seq_NPCs_Mouse1.49306286
39POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.49147007
40TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49147007
41SMAD3_21741376_ChIP-Seq_EPCs_Human1.48800287
42NR3C1_21868756_ChIP-Seq_MCF10A_Human1.47651276
43EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.46187009
44SUZ12_27294783_Chip-Seq_NPCs_Mouse1.45303771
45SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45050731
46TCF4_22108803_ChIP-Seq_LS180_Human1.43708119
47RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.42928942
48TOP2B_26459242_ChIP-Seq_MCF-7_Human1.42238952
49NFE2_27457419_Chip-Seq_LIVER_Mouse1.40187787
50OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38270196
51NANOG_19829295_ChIP-Seq_ESCs_Human1.36757486
52SOX2_19829295_ChIP-Seq_ESCs_Human1.36757486
53MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.36139918
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.34811921
55HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.33681199
56NOTCH1_21737748_ChIP-Seq_TLL_Human1.33092242
57KLF5_20875108_ChIP-Seq_MESCs_Mouse1.32773392
58TP53_22573176_ChIP-Seq_HFKS_Human1.32732059
59RUNX2_22187159_ChIP-Seq_PCA_Human1.32327994
60TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.28709164
61CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.28527836
62FOXA1_21572438_ChIP-Seq_LNCaP_Human1.28483056
63GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.27882900
64NANOG_18555785_Chip-Seq_ESCs_Mouse1.27326200
65FLI1_21867929_ChIP-Seq_TH2_Mouse1.27063760
66HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.26379832
67CDX2_22108803_ChIP-Seq_LS180_Human1.25753205
68AR_21572438_ChIP-Seq_LNCaP_Human1.25636460
69SMAD4_21741376_ChIP-Seq_EPCs_Human1.23946302
70PRDM14_20953172_ChIP-Seq_ESCs_Human1.23252369
71EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.22889316
72CRX_20693478_ChIP-Seq_RETINA_Mouse1.21545120
73EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.20543009
74TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.19897294
75FOXA1_25329375_ChIP-Seq_VCAP_Human1.19200654
76FOXA1_27270436_Chip-Seq_PROSTATE_Human1.19200654
77PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.18697901
78ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.17721028
79P53_22387025_ChIP-Seq_ESCs_Mouse1.15657730
80TP53_16413492_ChIP-PET_HCT116_Human1.14970961
81RNF2_27304074_Chip-Seq_NSC_Mouse1.12334008
82IRF1_19129219_ChIP-ChIP_H3396_Human1.10929298
83CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08952378
84OCT4_21477851_ChIP-Seq_ESCs_Mouse1.07895288
85E2F1_18555785_Chip-Seq_ESCs_Mouse1.07709307
86TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.07557181
87TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07543551
88BMI1_23680149_ChIP-Seq_NPCS_Mouse1.05435756
89STAT3_18555785_Chip-Seq_ESCs_Mouse1.05245811
90SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.05086753
91KDM2B_26808549_Chip-Seq_REH_Human1.04480814
92NCOR_22424771_ChIP-Seq_293T_Human1.02343757
93CBX2_27304074_Chip-Seq_ESCs_Mouse1.02291735
94REST_21632747_ChIP-Seq_MESCs_Mouse1.02245270
95SUZ12_18555785_Chip-Seq_ESCs_Mouse1.00838907
96CMYC_18555785_Chip-Seq_ESCs_Mouse1.00750326
97MYC_18940864_ChIP-ChIP_HL60_Human0.99716928
98AR_20517297_ChIP-Seq_VCAP_Human0.99649458
99ARNT_22903824_ChIP-Seq_MCF-7_Human0.99150822
100P300_18555785_Chip-Seq_ESCs_Mouse0.99100908

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis4.02384342
2MP0008877_abnormal_DNA_methylation2.92524409
3MP0005551_abnormal_eye_electrophysiolog2.70013466
4MP0000569_abnormal_digit_pigmentation2.58032867
5MP0001968_abnormal_touch/_nociception2.46777154
6MP0000372_irregular_coat_pigmentation2.42442458
7MP0004147_increased_porphyrin_level2.32781884
8MP0002102_abnormal_ear_morphology2.29972169
9MP0008057_abnormal_DNA_replication2.23553319
10MP0002837_dystrophic_cardiac_calcinosis2.19844890
11MP0003880_abnormal_central_pattern2.17302249
12MP0009046_muscle_twitch2.07621910
13MP0005253_abnormal_eye_physiology1.99759688
14MP0002736_abnormal_nociception_after1.96936869
15MP0000427_abnormal_hair_cycle1.95102059
16MP0003646_muscle_fatigue1.93035418
17MP0003136_yellow_coat_color1.90025285
18MP0009745_abnormal_behavioral_response1.88237014
19MP0008872_abnormal_physiological_respon1.86681143
20MP0001986_abnormal_taste_sensitivity1.83417481
21MP0004043_abnormal_pH_regulation1.80682887
22MP0001501_abnormal_sleep_pattern1.79731664
23MP0006072_abnormal_retinal_apoptosis1.75810028
24MP0002876_abnormal_thyroid_physiology1.71252407
25MP0000383_abnormal_hair_follicle1.71085049
26MP0006292_abnormal_olfactory_placode1.70582958
27MP0005646_abnormal_pituitary_gland1.69046076
28MP0003787_abnormal_imprinting1.66299850
29MP0002272_abnormal_nervous_system1.54963826
30MP0001486_abnormal_startle_reflex1.54258928
31MP0004142_abnormal_muscle_tone1.51589384
32MP0002638_abnormal_pupillary_reflex1.50778592
33MP0000631_abnormal_neuroendocrine_gland1.47246590
34MP0006276_abnormal_autonomic_nervous1.46462572
35MP0001485_abnormal_pinna_reflex1.44517306
36MP0001984_abnormal_olfaction1.42837197
37MP0002938_white_spotting1.41139913
38MP0005645_abnormal_hypothalamus_physiol1.39335520
39MP0002138_abnormal_hepatobiliary_system1.39125330
40MP0005174_abnormal_tail_pigmentation1.36153216
41MP0003890_abnormal_embryonic-extraembry1.32372889
42MP0010386_abnormal_urinary_bladder1.31310872
43MP0004742_abnormal_vestibular_system1.25272970
44MP0004133_heterotaxia1.22896013
45MP0004885_abnormal_endolymph1.22867280
46MP0002572_abnormal_emotion/affect_behav1.20702381
47MP0005386_behavior/neurological_phenoty1.20625467
48MP0004924_abnormal_behavior1.20625467
49MP0002163_abnormal_gland_morphology1.19791149
50MP0005084_abnormal_gallbladder_morpholo1.18866032
51MP0002928_abnormal_bile_duct1.18436612
52MP0003950_abnormal_plasma_membrane1.16746329
53MP0002557_abnormal_social/conspecific_i1.15934846
54MP0002064_seizures1.15414341
55MP0003283_abnormal_digestive_organ1.13596604
56MP0005410_abnormal_fertilization1.12819475
57MP0005075_abnormal_melanosome_morpholog1.10781277
58MP0004215_abnormal_myocardial_fiber1.10493371
59MP0002067_abnormal_sensory_capabilities1.09293987
60MP0008875_abnormal_xenobiotic_pharmacok1.09284482
61MP0002735_abnormal_chemical_nociception1.07245745
62MP0001970_abnormal_pain_threshold1.07010700
63MP0003011_delayed_dark_adaptation1.06147316
64MP0005389_reproductive_system_phenotype1.05430832
65MP0002254_reproductive_system_inflammat1.03477597
66MP0008995_early_reproductive_senescence1.03086842
67MP0003698_abnormal_male_reproductive1.02651346
68MP0002160_abnormal_reproductive_system1.01933778
69MP0001529_abnormal_vocalization1.00979347
70MP0002653_abnormal_ependyma_morphology1.00578119
71MP0002234_abnormal_pharynx_morphology1.00552644
72MP0003252_abnormal_bile_duct0.99963527
73MP0005310_abnormal_salivary_gland0.99875557
74MP0008058_abnormal_DNA_repair0.99605739
75MP0005171_absent_coat_pigmentation0.99104000
76MP0002733_abnormal_thermal_nociception0.99077318
77MP0004484_altered_response_of0.98819109
78MP0003718_maternal_effect0.98753684
79MP0005085_abnormal_gallbladder_physiolo0.97544491
80MP0008775_abnormal_heart_ventricle0.94158323
81MP0002751_abnormal_autonomic_nervous0.93515649
82MP0010678_abnormal_skin_adnexa0.92726234
83MP0001929_abnormal_gametogenesis0.92516128
84MP0002229_neurodegeneration0.92009937
85MP0002095_abnormal_skin_pigmentation0.91677434
86MP0005379_endocrine/exocrine_gland_phen0.91676507
87MP0003635_abnormal_synaptic_transmissio0.90972921
88MP0009697_abnormal_copulation0.90163392
89MP0001324_abnormal_eye_pigmentation0.89010351
90MP0005195_abnormal_posterior_eye0.88505751
91MP0001919_abnormal_reproductive_system0.85897249
92MP0005167_abnormal_blood-brain_barrier0.84613865
93MP0001764_abnormal_homeostasis0.84327272
94MP0003121_genomic_imprinting0.82663780
95MP0002752_abnormal_somatic_nervous0.81965340
96MP0000647_abnormal_sebaceous_gland0.81865772
97MP0004145_abnormal_muscle_electrophysio0.81043879
98MP0000015_abnormal_ear_pigmentation0.80576981
99MP0002909_abnormal_adrenal_gland0.80284497
100MP0002210_abnormal_sex_determination0.80083852

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.33808430
2Pancreatic fibrosis (HP:0100732)3.93237115
3Molar tooth sign on MRI (HP:0002419)3.77072007
4Abnormality of midbrain morphology (HP:0002418)3.77072007
5True hermaphroditism (HP:0010459)3.76219971
6Congenital stationary night blindness (HP:0007642)3.72971494
7Hyperventilation (HP:0002883)3.66586369
8Abnormality of the renal cortex (HP:0011035)3.65150911
9Attenuation of retinal blood vessels (HP:0007843)3.32825331
10Nephronophthisis (HP:0000090)3.26215761
11Abnormality of the renal medulla (HP:0100957)3.05480099
12Medial flaring of the eyebrow (HP:0010747)3.04090404
13Renal cortical cysts (HP:0000803)3.00781754
14Abnormal rod and cone electroretinograms (HP:0008323)2.93842904
15Decreased central vision (HP:0007663)2.93754783
16Chronic hepatic failure (HP:0100626)2.90603559
17Gaze-evoked nystagmus (HP:0000640)2.89980641
18Type II lissencephaly (HP:0007260)2.84761546
19Absent rod-and cone-mediated responses on ERG (HP:0007688)2.84020832
20Abolished electroretinogram (ERG) (HP:0000550)2.67075462
21Abnormal drinking behavior (HP:0030082)2.64220741
22Polydipsia (HP:0001959)2.64220741
23Aplasia/Hypoplasia of the tibia (HP:0005772)2.63655736
24Cystic liver disease (HP:0006706)2.60564877
25Intestinal atresia (HP:0011100)2.58041143
26Bony spicule pigmentary retinopathy (HP:0007737)2.52782849
27Progressive inability to walk (HP:0002505)2.46060926
28Febrile seizures (HP:0002373)2.45410204
29Progressive cerebellar ataxia (HP:0002073)2.40420256
30Keratoconus (HP:0000563)2.40024046
31Increased corneal curvature (HP:0100692)2.40024046
32Broad-based gait (HP:0002136)2.39318375
33Aplasia/Hypoplasia of the tongue (HP:0010295)2.38640407
34Gait imbalance (HP:0002141)2.35809064
35Inability to walk (HP:0002540)2.33204695
36Congenital primary aphakia (HP:0007707)2.31320934
37Fair hair (HP:0002286)2.27965759
38Tubular atrophy (HP:0000092)2.25526332
39Pendular nystagmus (HP:0012043)2.24727867
40Abnormality of alanine metabolism (HP:0010916)2.21208749
41Hyperalaninemia (HP:0003348)2.21208749
42Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.21208749
43Congenital hepatic fibrosis (HP:0002612)2.20638147
44Dialeptic seizures (HP:0011146)2.19971881
45Absent speech (HP:0001344)2.18942044
46Abnormality of macular pigmentation (HP:0008002)2.18607004
47Genital tract atresia (HP:0001827)2.16291484
48Hypothermia (HP:0002045)2.15203297
49Large for gestational age (HP:0001520)2.14665658
50Clumsiness (HP:0002312)2.13680365
51Protruding tongue (HP:0010808)2.13160469
52Cerebellar dysplasia (HP:0007033)2.12574745
53Polyuria (HP:0000103)2.12469013
54Genetic anticipation (HP:0003743)2.09571560
55Dynein arm defect of respiratory motile cilia (HP:0012255)2.06610033
56Absent/shortened dynein arms (HP:0200106)2.06610033
57Widely spaced teeth (HP:0000687)2.06233210
58Abnormality of the pons (HP:0007361)2.05334691
59Nephrogenic diabetes insipidus (HP:0009806)2.05044689
60Sclerocornea (HP:0000647)2.04943296
61Oligodactyly (hands) (HP:0001180)2.02585735
62Focal motor seizures (HP:0011153)2.01795162
63Furrowed tongue (HP:0000221)2.01233086
64Anencephaly (HP:0002323)2.01160287
65Volvulus (HP:0002580)1.99418541
66Vaginal atresia (HP:0000148)1.97451580
67Aplasia/Hypoplasia of the uvula (HP:0010293)1.96618668
68Stomach cancer (HP:0012126)1.95086435
69Bile duct proliferation (HP:0001408)1.93681119
70Abnormal biliary tract physiology (HP:0012439)1.93681119
71Focal seizures (HP:0007359)1.93407171
72Hypoplasia of the pons (HP:0012110)1.91732965
73Small hand (HP:0200055)1.90993333
74Postaxial foot polydactyly (HP:0001830)1.90226111
75Astigmatism (HP:0000483)1.90160355
76Decreased circulating renin level (HP:0003351)1.89987676
77Lissencephaly (HP:0001339)1.88761589
78Poor coordination (HP:0002370)1.88470821
79Thyroiditis (HP:0100646)1.87526879
80Optic nerve hypoplasia (HP:0000609)1.87019434
81Male pseudohermaphroditism (HP:0000037)1.86260912
82Constricted visual fields (HP:0001133)1.86111412
83Aplasia/Hypoplasia of the fovea (HP:0008060)1.85005088
84Hypoplasia of the fovea (HP:0007750)1.85005088
85Short tibia (HP:0005736)1.84143190
86Hypoproteinemia (HP:0003075)1.83996791
87Thyroid-stimulating hormone excess (HP:0002925)1.83702277
88Decreased electroretinogram (ERG) amplitude (HP:0000654)1.83215837
89Chorioretinal atrophy (HP:0000533)1.83142893
90Congenital sensorineural hearing impairment (HP:0008527)1.82660701
91Hemiparesis (HP:0001269)1.78047444
92Generalized hypopigmentation of hair (HP:0011358)1.76374430
93Methylmalonic acidemia (HP:0002912)1.74980820
94Atonic seizures (HP:0010819)1.74733141
95Ketoacidosis (HP:0001993)1.74680795
96Absence seizures (HP:0002121)1.71340026
97Central scotoma (HP:0000603)1.70776305
98Abnormality of the ileum (HP:0001549)1.70613305
99Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.70417350
100Abnormal respiratory epithelium morphology (HP:0012253)1.70080818

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.62918010
2BMPR1B3.81611411
3MAP4K23.41960563
4WNK32.68277100
5ACVR1B2.56220325
6ADRBK22.44593314
7ZAK2.44170817
8CASK2.31197961
9GRK12.12108622
10NUAK12.06481298
11TNIK2.05233203
12MAPK131.74404525
13MKNK21.58998149
14INSRR1.58715209
15TRIM281.53325223
16EIF2AK31.51517351
17STK38L1.51393372
18OXSR11.42548262
19PINK11.40171339
20TAOK31.37503487
21MAP3K41.32759241
22STK391.23874002
23WNK41.23790195
24TGFBR11.22838186
25PLK21.22787901
26PAK31.18386302
27NTRK31.16983606
28TIE11.16043075
29NLK1.15603513
30PRKCE1.14612113
31TEC1.11527628
32CAMKK21.00108659
33ADRBK10.94384738
34IRAK10.94280250
35PTK2B0.93435341
36STK30.93194876
37EPHA30.91607365
38BRSK20.91372452
39DAPK20.90706421
40MARK10.89476337
41MST40.88241681
42TXK0.85482883
43BCR0.81158932
44PRKCG0.79795270
45EPHA40.76704069
46TLK10.76277563
47MAP2K70.76248150
48AKT30.75721616
49PLK30.73281917
50LATS10.72034915
51MKNK10.70911201
52TNK20.69782216
53FGFR20.68943646
54ERBB30.68734157
55MARK30.68476109
56FER0.67906999
57VRK10.66894239
58PNCK0.64939646
59PLK40.61665306
60CSNK1G10.59083116
61DYRK20.58001686
62PRKCQ0.56677140
63BCKDK0.56158744
64CAMK1G0.56017995
65PHKG20.54434018
66PHKG10.54434018
67FLT30.53654126
68PDK20.51341960
69CAMK2A0.51053771
70CSNK1G20.50627471
71IKBKB0.50185560
72PIK3CA0.49313088
73PIK3CG0.49160624
74KIT0.46601662
75PKN10.45354063
76WEE10.44774160
77CAMK1D0.44511488
78MUSK0.44234013
79CSNK1A1L0.44078091
80SGK20.43731376
81STK110.42175246
82OBSCN0.41968467
83NTRK20.41816045
84PRKAA20.41158050
85CSNK1G30.40848748
86PRKCI0.40836398
87PRKACA0.39385260
88MAP2K60.38054386
89CSNK1D0.37477992
90CAMK10.36763724
91CSNK1A10.36704690
92CHEK20.35864546
93RPS6KA50.35415528
94ITK0.35160746
95MAPKAPK50.35107851
96ATM0.33454253
97ABL10.33117214
98CHUK0.31901150
99PRKG10.31034899
100DYRK1A0.30430549

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047442.82388278
2Butanoate metabolism_Homo sapiens_hsa006502.71567772
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.66378613
4Nitrogen metabolism_Homo sapiens_hsa009102.58069114
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.47545785
6Linoleic acid metabolism_Homo sapiens_hsa005912.44053909
7Propanoate metabolism_Homo sapiens_hsa006402.30251965
8Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.17208287
9Nicotine addiction_Homo sapiens_hsa050332.17170518
10Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.05958491
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.01926483
12Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.99715675
13Homologous recombination_Homo sapiens_hsa034401.96594110
14Maturity onset diabetes of the young_Homo sapiens_hsa049501.88515680
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.87768065
16Basal transcription factors_Homo sapiens_hsa030221.85830878
17Tryptophan metabolism_Homo sapiens_hsa003801.85315440
18Ether lipid metabolism_Homo sapiens_hsa005651.82986812
19Selenocompound metabolism_Homo sapiens_hsa004501.80078065
20Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.79578053
21Fanconi anemia pathway_Homo sapiens_hsa034601.78751639
22Protein export_Homo sapiens_hsa030601.64705865
23Taste transduction_Homo sapiens_hsa047421.64108017
24ABC transporters_Homo sapiens_hsa020101.63729211
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.62192557
26Caffeine metabolism_Homo sapiens_hsa002321.58173276
27Olfactory transduction_Homo sapiens_hsa047401.56539055
28Morphine addiction_Homo sapiens_hsa050321.36205355
29One carbon pool by folate_Homo sapiens_hsa006701.34437382
30Steroid hormone biosynthesis_Homo sapiens_hsa001401.29593025
31Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.29313944
32Primary bile acid biosynthesis_Homo sapiens_hsa001201.28436721
33Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.25900074
34RNA polymerase_Homo sapiens_hsa030201.23116503
35RNA degradation_Homo sapiens_hsa030181.13332646
36Insulin secretion_Homo sapiens_hsa049111.13054854
37Retinol metabolism_Homo sapiens_hsa008301.12632944
38Regulation of autophagy_Homo sapiens_hsa041401.12176798
39Serotonergic synapse_Homo sapiens_hsa047261.09791800
40Glutamatergic synapse_Homo sapiens_hsa047241.08517508
41Chemical carcinogenesis_Homo sapiens_hsa052041.06485537
42Circadian entrainment_Homo sapiens_hsa047131.05987045
43Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.03025402
44Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.02321565
45Peroxisome_Homo sapiens_hsa041461.01703729
46GABAergic synapse_Homo sapiens_hsa047270.98426046
47Dorso-ventral axis formation_Homo sapiens_hsa043200.96805774
48Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.96342725
49Salivary secretion_Homo sapiens_hsa049700.96012785
50Non-homologous end-joining_Homo sapiens_hsa034500.94189571
51Arachidonic acid metabolism_Homo sapiens_hsa005900.93611235
52beta-Alanine metabolism_Homo sapiens_hsa004100.90888290
53Ovarian steroidogenesis_Homo sapiens_hsa049130.89030066
54Calcium signaling pathway_Homo sapiens_hsa040200.87097035
55Circadian rhythm_Homo sapiens_hsa047100.85118264
56Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.83922234
57Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.81528492
58Oxidative phosphorylation_Homo sapiens_hsa001900.79576200
59Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.78694880
60Primary immunodeficiency_Homo sapiens_hsa053400.76645196
61Mineral absorption_Homo sapiens_hsa049780.75267135
62Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.74576630
63Glycerolipid metabolism_Homo sapiens_hsa005610.72894566
64Fat digestion and absorption_Homo sapiens_hsa049750.69323365
65SNARE interactions in vesicular transport_Homo sapiens_hsa041300.66607773
66Fatty acid degradation_Homo sapiens_hsa000710.66005684
67Fatty acid metabolism_Homo sapiens_hsa012120.63578762
68Intestinal immune network for IgA production_Homo sapiens_hsa046720.61967596
69Purine metabolism_Homo sapiens_hsa002300.61305153
70Vascular smooth muscle contraction_Homo sapiens_hsa042700.60896054
71Lysine degradation_Homo sapiens_hsa003100.59146270
72Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.57178774
73Cysteine and methionine metabolism_Homo sapiens_hsa002700.56036649
74Dopaminergic synapse_Homo sapiens_hsa047280.55929247
75Pentose and glucuronate interconversions_Homo sapiens_hsa000400.51745880
76Renin secretion_Homo sapiens_hsa049240.51029914
77Steroid biosynthesis_Homo sapiens_hsa001000.51013832
78Collecting duct acid secretion_Homo sapiens_hsa049660.49363736
79Long-term depression_Homo sapiens_hsa047300.49169335
80Proteasome_Homo sapiens_hsa030500.47291281
81Metabolic pathways_Homo sapiens_hsa011000.47134484
82Parkinsons disease_Homo sapiens_hsa050120.44931097
83Sphingolipid metabolism_Homo sapiens_hsa006000.44577316
84Histidine metabolism_Homo sapiens_hsa003400.44189427
85Huntingtons disease_Homo sapiens_hsa050160.42677181
86Fatty acid biosynthesis_Homo sapiens_hsa000610.42393125
87Sulfur metabolism_Homo sapiens_hsa009200.40277068
88Pancreatic secretion_Homo sapiens_hsa049720.40243756
89Hedgehog signaling pathway_Homo sapiens_hsa043400.40043285
90cAMP signaling pathway_Homo sapiens_hsa040240.39780183
91Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.39289329
92TGF-beta signaling pathway_Homo sapiens_hsa043500.35033561
93Aldosterone synthesis and secretion_Homo sapiens_hsa049250.34645852
94Asthma_Homo sapiens_hsa053100.31738413
95Gastric acid secretion_Homo sapiens_hsa049710.31643544
96Glycerophospholipid metabolism_Homo sapiens_hsa005640.30791575
97Cholinergic synapse_Homo sapiens_hsa047250.30122874
98cGMP-PKG signaling pathway_Homo sapiens_hsa040220.30045638
99Mismatch repair_Homo sapiens_hsa034300.29743659
100Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.28659456

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