UPF3AP1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.30431172
2response to pheromone (GO:0019236)5.89269107
3fusion of sperm to egg plasma membrane (GO:0007342)5.13703625
4ATP synthesis coupled proton transport (GO:0015986)5.09751853
5energy coupled proton transport, down electrochemical gradient (GO:0015985)5.09751853
6sperm motility (GO:0030317)4.98280734
7establishment of protein localization to mitochondrial membrane (GO:0090151)4.78006683
8acrosome reaction (GO:0007340)4.50743682
9behavioral response to nicotine (GO:0035095)4.33433357
10protein neddylation (GO:0045116)4.30213638
11mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.26554566
12respiratory electron transport chain (GO:0022904)4.05767359
13epithelial cilium movement (GO:0003351)4.05165586
14electron transport chain (GO:0022900)3.98870122
15chaperone-mediated protein transport (GO:0072321)3.92795959
16cilium movement (GO:0003341)3.77972816
17plasma membrane fusion (GO:0045026)3.76907889
18regulation of action potential (GO:0098900)3.73264484
19rRNA methylation (GO:0031167)3.72430211
20axonemal dynein complex assembly (GO:0070286)3.71999434
21positive regulation of megakaryocyte differentiation (GO:0045654)3.58655481
22ribosomal small subunit assembly (GO:0000028)3.54031336
23single strand break repair (GO:0000012)3.53967613
24rRNA modification (GO:0000154)3.53188151
25microtubule depolymerization (GO:0007019)3.52183043
26cellular ketone body metabolic process (GO:0046950)3.50400672
27sex differentiation (GO:0007548)3.46089611
28neuron fate determination (GO:0048664)3.44893322
29NAD biosynthetic process (GO:0009435)3.41899591
30translational termination (GO:0006415)3.38711255
31viral transcription (GO:0019083)3.38273317
32microtubule polymerization or depolymerization (GO:0031109)3.36920091
33negative regulation of telomere maintenance (GO:0032205)3.34312081
34negative regulation of multicellular organism growth (GO:0040015)3.32809572
35epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.32583983
36somite rostral/caudal axis specification (GO:0032525)3.30694984
37thalamus development (GO:0021794)3.27858654
38nephron epithelium morphogenesis (GO:0072088)3.27569223
39nephron tubule morphogenesis (GO:0072078)3.27569223
40sequestering of actin monomers (GO:0042989)3.26844227
41estrogen biosynthetic process (GO:0006703)3.25284494
42inner mitochondrial membrane organization (GO:0007007)3.23079959
43pyrimidine nucleobase catabolic process (GO:0006208)3.22952208
44hydrogen ion transmembrane transport (GO:1902600)3.22213930
45centriole replication (GO:0007099)3.21810756
46regulation of gene silencing by RNA (GO:0060966)3.19850211
47regulation of posttranscriptional gene silencing (GO:0060147)3.19850211
48regulation of gene silencing by miRNA (GO:0060964)3.19850211
49positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)3.18469374
50ketone body metabolic process (GO:1902224)3.17501172
51ATP biosynthetic process (GO:0006754)3.16105175
52spermatid nucleus differentiation (GO:0007289)3.15766549
53cilium or flagellum-dependent cell motility (GO:0001539)3.15085371
54protein polyglutamylation (GO:0018095)3.14698251
55maturation of SSU-rRNA (GO:0030490)3.06026523
56protein targeting to Golgi (GO:0000042)2.99085888
57spinal cord motor neuron differentiation (GO:0021522)2.98644224
58histone exchange (GO:0043486)2.96658233
59spermatid development (GO:0007286)2.95928864
60establishment of protein localization to Golgi (GO:0072600)2.94980801
61multicellular organism reproduction (GO:0032504)2.92762553
62cotranslational protein targeting to membrane (GO:0006613)2.87613567
63regulation of establishment of cell polarity (GO:2000114)2.86873316
64proton transport (GO:0015992)2.85901899
65regulation of non-canonical Wnt signaling pathway (GO:2000050)2.85289680
66gamma-aminobutyric acid transport (GO:0015812)2.84346541
67synaptic transmission, cholinergic (GO:0007271)2.84221300
68sperm-egg recognition (GO:0035036)2.83718232
69presynaptic membrane assembly (GO:0097105)2.82821704
70protein targeting to ER (GO:0045047)2.81591553
71SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.79325925
72sperm capacitation (GO:0048240)2.78774555
73hydrogen transport (GO:0006818)2.77928207
74cerebral cortex radially oriented cell migration (GO:0021799)2.77550505
75regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.75582140
76male gamete generation (GO:0048232)2.75560411
77spermatogenesis (GO:0007283)2.75541234
78negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.75254146
79negative regulation of translation, ncRNA-mediated (GO:0040033)2.75254146
80regulation of translation, ncRNA-mediated (GO:0045974)2.75254146
81seminiferous tubule development (GO:0072520)2.74271186
82detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.73314752
83spliceosomal complex assembly (GO:0000245)2.72994135
84cellular protein complex disassembly (GO:0043624)2.72696566
85nucleobase catabolic process (GO:0046113)2.71560648
86transcription elongation from RNA polymerase III promoter (GO:0006385)2.70099057
87termination of RNA polymerase III transcription (GO:0006386)2.70099057
88neuronal action potential (GO:0019228)2.69680125
89purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.68804243
90tongue development (GO:0043586)2.68535751
91establishment of protein localization to endoplasmic reticulum (GO:0072599)2.68107882
92left/right axis specification (GO:0070986)2.66702229
93positive regulation of gastrulation (GO:2000543)2.65800247
94neuronal stem cell maintenance (GO:0097150)2.65622607
95transmission of nerve impulse (GO:0019226)2.64822246
96resolution of meiotic recombination intermediates (GO:0000712)2.64726430
97urogenital system development (GO:0001655)2.64015911
98intraciliary transport (GO:0042073)2.62693528
99somite development (GO:0061053)2.62283949
100purine nucleoside triphosphate biosynthetic process (GO:0009145)2.60544104

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.53188986
2HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.10163124
3EZH2_22144423_ChIP-Seq_EOC_Human3.57533489
4FUS_26573619_Chip-Seq_HEK293_Human2.76064594
5CTBP2_25329375_ChIP-Seq_LNCAP_Human2.67220359
6SALL1_21062744_ChIP-ChIP_HESCs_Human2.53950905
7ZNF274_21170338_ChIP-Seq_K562_Hela2.52160592
8GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.39395511
9CTBP1_25329375_ChIP-Seq_LNCAP_Human2.33628107
10MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.24547905
11TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.17476105
12P300_19829295_ChIP-Seq_ESCs_Human2.07905298
13EST1_17652178_ChIP-ChIP_JURKAT_Human2.03974591
14TAF15_26573619_Chip-Seq_HEK293_Human2.02938902
15BMI1_23680149_ChIP-Seq_NPCS_Mouse1.92109513
16ZFP57_27257070_Chip-Seq_ESCs_Mouse1.91689767
17CBX2_27304074_Chip-Seq_ESCs_Mouse1.90684620
18ER_23166858_ChIP-Seq_MCF-7_Human1.86756750
19POU3F2_20337985_ChIP-ChIP_501MEL_Human1.68353251
20IGF1R_20145208_ChIP-Seq_DFB_Human1.66335264
21TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.65906301
22POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.65906301
23GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.65113230
24IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.64865226
25CBP_20019798_ChIP-Seq_JUKART_Human1.64865226
26AR_21572438_ChIP-Seq_LNCaP_Human1.64770796
27POU5F1_16153702_ChIP-ChIP_HESCs_Human1.61861546
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.61521152
29VDR_22108803_ChIP-Seq_LS180_Human1.59012734
30TOP2B_26459242_ChIP-Seq_MCF-7_Human1.58633310
31REST_21632747_ChIP-Seq_MESCs_Mouse1.53618811
32EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.53200965
33ETV2_25802403_ChIP-Seq_MESCs_Mouse1.52481377
34HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.52008769
35UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.50665792
36EWS_26573619_Chip-Seq_HEK293_Human1.49633119
37GABP_17652178_ChIP-ChIP_JURKAT_Human1.45834562
38KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.44664018
39MYC_18940864_ChIP-ChIP_HL60_Human1.42644062
40RNF2_27304074_Chip-Seq_NSC_Mouse1.41750936
41SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39033944
42SMAD3_21741376_ChIP-Seq_EPCs_Human1.36578063
43GBX2_23144817_ChIP-Seq_PC3_Human1.36125457
44FLI1_27457419_Chip-Seq_LIVER_Mouse1.31974700
45EZH2_27304074_Chip-Seq_ESCs_Mouse1.31065533
46MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.31012691
47FOXA1_27270436_Chip-Seq_PROSTATE_Human1.30124682
48FOXA1_25329375_ChIP-Seq_VCAP_Human1.30124682
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.29000007
50AR_25329375_ChIP-Seq_VCAP_Human1.28715230
51E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.26044065
52CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.25903334
53GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.22430821
54TP63_19390658_ChIP-ChIP_HaCaT_Human1.21239203
55TDRD3_21172665_ChIP-Seq_MCF-7_Human1.21087837
56SOX2_16153702_ChIP-ChIP_HESCs_Human1.20942163
57BCAT_22108803_ChIP-Seq_LS180_Human1.20600096
58TP53_22573176_ChIP-Seq_HFKS_Human1.18890522
59ERA_21632823_ChIP-Seq_H3396_Human1.17770564
60SMAD4_21741376_ChIP-Seq_EPCs_Human1.15723751
61SOX2_19829295_ChIP-Seq_ESCs_Human1.15672681
62NANOG_19829295_ChIP-Seq_ESCs_Human1.15672681
63EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.15568731
64NCOR_22424771_ChIP-Seq_293T_Human1.12236527
65TCF4_22108803_ChIP-Seq_LS180_Human1.11241713
66KLF5_20875108_ChIP-Seq_MESCs_Mouse1.11149415
67MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.11123734
68PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.10438527
69REST_18959480_ChIP-ChIP_MESCs_Mouse1.08707650
70MYC_19829295_ChIP-Seq_ESCs_Human1.08527380
71PCGF2_27294783_Chip-Seq_ESCs_Mouse1.08039539
72TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.05949085
73CBX2_22325352_ChIP-Seq_293T-Rex_Human1.04864219
74NANOG_18555785_Chip-Seq_ESCs_Mouse1.04523193
75ETV1_20927104_ChIP-Seq_GIST48_Human1.04391727
76NANOG_20526341_ChIP-Seq_ESCs_Human1.04148189
77EED_16625203_ChIP-ChIP_MESCs_Mouse1.03563884
78FOXA1_21572438_ChIP-Seq_LNCaP_Human1.02945082
79ERG_20517297_ChIP-Seq_VCAP_Human1.02827219
80NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.02789060
81TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02401108
82TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02376683
83AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.02350441
84RUNX2_22187159_ChIP-Seq_PCA_Human1.01335534
85TCF4_23295773_ChIP-Seq_U87_Human0.99985980
86KDM2B_26808549_Chip-Seq_REH_Human0.99037968
87SMAD3_21741376_ChIP-Seq_ESCs_Human0.98325643
88CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.97874969
89OCT1_27270436_Chip-Seq_PROSTATE_Human0.95392394
90CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.94998326
91PHF8_20622853_ChIP-Seq_HELA_Human0.94793675
92NFYB_21822215_ChIP-Seq_K562_Human0.94163585
93TBL1_22424771_ChIP-Seq_293T_Human0.93971793
94GATA3_21878914_ChIP-Seq_MCF-7_Human0.93412214
95PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.92561057
96P53_21459846_ChIP-Seq_SAOS-2_Human0.92055514
97NANOG_16153702_ChIP-ChIP_HESCs_Human0.91271103
98SMAD4_21799915_ChIP-Seq_A2780_Human0.91012913
99TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.90493007
100RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.89925643

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation3.75744503
2MP0003011_delayed_dark_adaptation3.66363270
3MP0005410_abnormal_fertilization3.29833568
4MP0006292_abnormal_olfactory_placode3.28753418
5MP0005084_abnormal_gallbladder_morpholo2.86352141
6MP0003878_abnormal_ear_physiology2.84525966
7MP0005377_hearing/vestibular/ear_phenot2.84525966
8MP0001968_abnormal_touch/_nociception2.47804325
9MP0004133_heterotaxia2.35271928
10MP0002736_abnormal_nociception_after2.32672472
11MP0002928_abnormal_bile_duct2.31057056
12MP0010030_abnormal_orbit_morphology2.14800043
13MP0003136_yellow_coat_color1.89163405
14MP0002653_abnormal_ependyma_morphology1.86057957
15MP0000569_abnormal_digit_pigmentation1.84595469
16MP0003890_abnormal_embryonic-extraembry1.77248893
17MP0009745_abnormal_behavioral_response1.69707958
18MP0003137_abnormal_impulse_conducting1.68757976
19MP0001485_abnormal_pinna_reflex1.67349136
20MP0009046_muscle_twitch1.67286196
21MP0001293_anophthalmia1.67095565
22MP0003718_maternal_effect1.66173967
23MP0005253_abnormal_eye_physiology1.65173988
24MP0002938_white_spotting1.64006451
25MP0003283_abnormal_digestive_organ1.63937672
26MP0004142_abnormal_muscle_tone1.62212497
27MP0003698_abnormal_male_reproductive1.61059672
28MP0005551_abnormal_eye_electrophysiolog1.58282712
29MP0002272_abnormal_nervous_system1.52817141
30MP0000778_abnormal_nervous_system1.51211930
31MP0009053_abnormal_anal_canal1.51097954
32MP0000631_abnormal_neuroendocrine_gland1.47666005
33MP0001929_abnormal_gametogenesis1.46144879
34MP0002837_dystrophic_cardiac_calcinosis1.44126344
35MP0002064_seizures1.43488148
36MP0002234_abnormal_pharynx_morphology1.40417879
37MP0000026_abnormal_inner_ear1.39655855
38MP0008995_early_reproductive_senescence1.38502863
39MP0003880_abnormal_central_pattern1.36277956
40MP0004885_abnormal_endolymph1.35384305
41MP0003252_abnormal_bile_duct1.34780272
42MP0002282_abnormal_trachea_morphology1.33071940
43MP0008004_abnormal_stomach_pH1.32731486
44MP0003938_abnormal_ear_development1.31625441
45MP0002735_abnormal_chemical_nociception1.31183308
46MP0002638_abnormal_pupillary_reflex1.27515316
47MP0001286_abnormal_eye_development1.26640029
48MP0001486_abnormal_startle_reflex1.25678810
49MP0002138_abnormal_hepatobiliary_system1.25229818
50MP0002733_abnormal_thermal_nociception1.22957721
51MP0003122_maternal_imprinting1.22306909
52MP0002139_abnormal_hepatobiliary_system1.21667254
53MP0005645_abnormal_hypothalamus_physiol1.19323047
54MP0006072_abnormal_retinal_apoptosis1.17695554
55MP0001970_abnormal_pain_threshold1.16716377
56MP0006276_abnormal_autonomic_nervous1.14874144
57MP0002067_abnormal_sensory_capabilities1.14265289
58MP0005391_vision/eye_phenotype1.14217421
59MP0000955_abnormal_spinal_cord1.13724656
60MP0001324_abnormal_eye_pigmentation1.10810699
61MP0002752_abnormal_somatic_nervous1.08139299
62MP0002734_abnormal_mechanical_nocicepti1.06858214
63MP0001963_abnormal_hearing_physiology1.06760810
64MP0002210_abnormal_sex_determination1.06374015
65MP0005423_abnormal_somatic_nervous1.05555135
66MP0008961_abnormal_basal_metabolism1.05150285
67MP0003195_calcinosis1.03658540
68MP0002102_abnormal_ear_morphology1.02563319
69MP0005195_abnormal_posterior_eye1.01723263
70MP0000049_abnormal_middle_ear1.01607934
71MP0002572_abnormal_emotion/affect_behav1.01523688
72MP0001529_abnormal_vocalization1.01305496
73MP0002161_abnormal_fertility/fecundity1.00061528
74MP0004019_abnormal_vitamin_homeostasis0.95045822
75MP0003186_abnormal_redox_activity0.93382243
76MP0003119_abnormal_digestive_system0.91774447
77MP0000653_abnormal_sex_gland0.91171454
78MP0002882_abnormal_neuron_morphology0.89271971
79MP0002822_catalepsy0.89223735
80MP0003567_abnormal_fetal_cardiomyocyte0.88612217
81MP0001145_abnormal_male_reproductive0.88211223
82MP0008877_abnormal_DNA_methylation0.87494686
83MP0001346_abnormal_lacrimal_gland0.87190376
84MP0001986_abnormal_taste_sensitivity0.86596744
85MP0005646_abnormal_pituitary_gland0.85168906
86MP0002557_abnormal_social/conspecific_i0.84143163
87MP0001299_abnormal_eye_distance/0.82785481
88MP0005408_hypopigmentation0.82586416
89MP0001348_abnormal_lacrimal_gland0.80275195
90MP0003861_abnormal_nervous_system0.80116536
91MP0002063_abnormal_learning/memory/cond0.79937411
92MP0004147_increased_porphyrin_level0.79475601
93MP0002229_neurodegeneration0.79237545
94MP0003937_abnormal_limbs/digits/tail_de0.78736517
95MP0004742_abnormal_vestibular_system0.77584245
96MP0003635_abnormal_synaptic_transmissio0.76318896
97MP0009384_cardiac_valve_regurgitation0.73885573
98MP0002277_abnormal_respiratory_mucosa0.72087367
99MP0000470_abnormal_stomach_morphology0.71180546
100MP0003121_genomic_imprinting0.70904479

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)4.56525331
2Severe visual impairment (HP:0001141)4.32774120
3Pendular nystagmus (HP:0012043)4.03325617
4Progressive cerebellar ataxia (HP:0002073)3.77111719
5Attenuation of retinal blood vessels (HP:0007843)3.59984315
6Reticulocytopenia (HP:0001896)3.47604536
7Pancreatic cysts (HP:0001737)3.46108408
8Absent/shortened dynein arms (HP:0200106)3.44827634
9Dynein arm defect of respiratory motile cilia (HP:0012255)3.44827634
10Abnormal ciliary motility (HP:0012262)3.40085821
11Abnormal respiratory motile cilium physiology (HP:0012261)3.23249097
12Abnormal number of erythroid precursors (HP:0012131)3.20260199
13Acute necrotizing encephalopathy (HP:0006965)3.15281423
14Nephronophthisis (HP:0000090)3.15126761
15Abnormal respiratory epithelium morphology (HP:0012253)3.05279980
16Abnormal respiratory motile cilium morphology (HP:0005938)3.05279980
17Action tremor (HP:0002345)3.00997570
18Septo-optic dysplasia (HP:0100842)2.96289995
19Pancreatic fibrosis (HP:0100732)2.94777449
20Genetic anticipation (HP:0003743)2.94318538
21Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.92646653
22Abnormality of cells of the erythroid lineage (HP:0012130)2.91852071
23Decreased central vision (HP:0007663)2.89962114
24Esophageal atresia (HP:0002032)2.88410900
25Mitochondrial inheritance (HP:0001427)2.81558810
26True hermaphroditism (HP:0010459)2.80358373
27Bilateral microphthalmos (HP:0007633)2.71621802
28Abnormality of the renal medulla (HP:0100957)2.69364597
29Renal Fanconi syndrome (HP:0001994)2.68520917
30Abnormal mitochondria in muscle tissue (HP:0008316)2.66905540
31Congenital, generalized hypertrichosis (HP:0004540)2.65027388
32Focal motor seizures (HP:0011153)2.64374631
33Acute encephalopathy (HP:0006846)2.60715875
34Gastrointestinal atresia (HP:0002589)2.60661972
35Molar tooth sign on MRI (HP:0002419)2.58522428
36Abnormality of midbrain morphology (HP:0002418)2.58522428
37Supernumerary spleens (HP:0009799)2.55297595
38Progressive macrocephaly (HP:0004481)2.55246508
39Colon cancer (HP:0003003)2.45193361
40Bony spicule pigmentary retinopathy (HP:0007737)2.43493486
41Intestinal atresia (HP:0011100)2.41474066
42Tubulointerstitial nephritis (HP:0001970)2.39195486
43Increased hepatocellular lipid droplets (HP:0006565)2.37104653
44Spontaneous abortion (HP:0005268)2.36559945
45Birth length less than 3rd percentile (HP:0003561)2.35711563
46Maternal diabetes (HP:0009800)2.32807447
47Abnormality of the renal cortex (HP:0011035)2.31432225
48Generalized aminoaciduria (HP:0002909)2.27706341
49Rhinitis (HP:0012384)2.26395430
50Chronic hepatic failure (HP:0100626)2.25327612
51Sclerocornea (HP:0000647)2.24172354
52Focal seizures (HP:0007359)2.22973236
53Hepatic necrosis (HP:0002605)2.19905106
54Abnormality of macular pigmentation (HP:0008002)2.18396646
553-Methylglutaconic aciduria (HP:0003535)2.18121816
56Absence seizures (HP:0002121)2.17027374
57Cystic liver disease (HP:0006706)2.16048549
58Hepatocellular necrosis (HP:0001404)2.15187327
59Hyperventilation (HP:0002883)2.13439944
60Anencephaly (HP:0002323)2.13046065
61Oligodactyly (hands) (HP:0001180)2.10863577
62Dialeptic seizures (HP:0011146)2.10362230
63Increased CSF lactate (HP:0002490)2.09782308
64Optic disc pallor (HP:0000543)2.07836496
65Bile duct proliferation (HP:0001408)2.03276141
66Abnormal biliary tract physiology (HP:0012439)2.03276141
67Absent thumb (HP:0009777)2.02697419
68Cleft eyelid (HP:0000625)1.96863153
69Febrile seizures (HP:0002373)1.95141802
70Abnormality of urine glucose concentration (HP:0011016)1.93048395
71Glycosuria (HP:0003076)1.93048395
72Abnormal rod and cone electroretinograms (HP:0008323)1.92923860
73Anophthalmia (HP:0000528)1.92872819
74Growth hormone deficiency (HP:0000824)1.92310289
75Dysdiadochokinesis (HP:0002075)1.90644626
76Rib fusion (HP:0000902)1.89626091
77Meckel diverticulum (HP:0002245)1.85257405
78Macrocytic anemia (HP:0001972)1.85015802
79Optic nerve hypoplasia (HP:0000609)1.84873741
80Exertional dyspnea (HP:0002875)1.84820379
81Tubular atrophy (HP:0000092)1.83836639
82Abdominal situs inversus (HP:0003363)1.83652897
83Abnormality of abdominal situs (HP:0011620)1.83652897
84Cerebral edema (HP:0002181)1.82886848
85Abnormality of renal resorption (HP:0011038)1.81971741
86Hypochromic microcytic anemia (HP:0004840)1.81960004
87Renal cortical cysts (HP:0000803)1.81321967
88Absent septum pellucidum (HP:0001331)1.81302778
89Aplasia/Hypoplasia of the uvula (HP:0010293)1.77987347
90Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.77197772
91Abolished electroretinogram (ERG) (HP:0000550)1.77030783
92Congenital stationary night blindness (HP:0007642)1.76244590
93Lipid accumulation in hepatocytes (HP:0006561)1.75900486
94Abnormality of the labia minora (HP:0012880)1.75509268
95Chronic sinusitis (HP:0011109)1.75416073
96Abnormality of the ileum (HP:0001549)1.73122785
97Partial duplication of thumb phalanx (HP:0009944)1.72284783
98Recurrent corneal erosions (HP:0000495)1.72119267
99Duplication of thumb phalanx (HP:0009942)1.70736193
100Triphalangeal thumb (HP:0001199)1.69942091

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK154.66693208
2INSRR4.36544647
3MAP4K23.67251605
4PNCK3.17911847
5PLK43.08306969
6OXSR12.71322834
7MARK12.50434460
8TAF12.48662746
9ZAK2.43139192
10CDK192.19040533
11WNK42.13804311
12VRK11.98170564
13ADRBK21.93964741
14WNK31.88466062
15PINK11.84983066
16MAP3K121.79625810
17DYRK21.68590079
18NTRK31.65734324
19GRK11.64686274
20PLK21.60931836
21SIK21.59878155
22WEE11.58159458
23STK391.55013434
24BUB11.53991443
25VRK21.50752033
26GRK71.48752672
27MAP3K101.39937040
28NTRK21.38662300
29BMPR1B1.29602709
30PLK31.24203260
31CASK1.22239509
32MAPK131.20112323
33NEK21.03320243
34WNK11.02590094
35FRK1.02014084
36PRKCG0.96775967
37MINK10.88963858
38TESK10.86333380
39CDK30.86312676
40UHMK10.84831299
41CCNB10.84512388
42TYRO30.82255287
43NME10.80418669
44MAP3K110.80389076
45MKNK20.77698411
46PIK3CA0.77213767
47CLK10.72325261
48PHKG10.71888885
49PHKG20.71888885
50EPHB20.71874991
51DDR20.69749904
52PASK0.63856281
53MKNK10.63396833
54STK160.62565615
55MAP2K20.61689479
56PLK10.60219030
57ADRBK10.60099148
58STK38L0.59328361
59PTK2B0.58831440
60PBK0.57384989
61CAMK1G0.57165344
62SGK10.54518008
63BCKDK0.53434847
64KDR0.53343315
65NEK60.53071389
66DYRK1A0.50955794
67CDC70.50070774
68MARK30.46221906
69CHEK20.46219967
70TRIM280.44573561
71CAMK10.41404874
72MAP3K40.40918963
73CSNK1E0.40411831
74CDK50.39451544
75ACVR1B0.39390636
76TGFBR10.38827184
77MUSK0.38472281
78TNIK0.37802910
79GRK50.36972711
80CHEK10.36915996
81PRKG10.36369294
82CSNK2A10.35480758
83AURKA0.35390916
84EPHA40.33688809
85PKN10.33503450
86PAK30.33464379
87ERBB30.33098607
88PRKACA0.31923433
89CSNK1A10.31302888
90TGFBR20.31161304
91NUAK10.30479427
92RPS6KA50.29451116
93PIK3CG0.28636635
94CSNK2A20.27623006
95OBSCN0.26009212
96CDK20.24181689
97MAP3K50.23799445
98CSNK1G20.23450297
99PRKDC0.22896680
100ATM0.22627415

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.54274811
2Ribosome_Homo sapiens_hsa030103.81301061
3Parkinsons disease_Homo sapiens_hsa050123.70860282
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.41853898
5Huntingtons disease_Homo sapiens_hsa050162.82266000
6Alzheimers disease_Homo sapiens_hsa050102.73531228
7Cardiac muscle contraction_Homo sapiens_hsa042602.72505228
8RNA polymerase_Homo sapiens_hsa030202.48799462
9Protein export_Homo sapiens_hsa030602.44697604
10Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.24553946
11Maturity onset diabetes of the young_Homo sapiens_hsa049502.15876292
12Fatty acid biosynthesis_Homo sapiens_hsa000612.12545826
13Primary bile acid biosynthesis_Homo sapiens_hsa001201.97977112
14Homologous recombination_Homo sapiens_hsa034401.94748526
15Butanoate metabolism_Homo sapiens_hsa006501.94559768
16Proteasome_Homo sapiens_hsa030501.80524695
17Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.79994646
18Taste transduction_Homo sapiens_hsa047421.76245371
19Fanconi anemia pathway_Homo sapiens_hsa034601.73551174
20Nicotine addiction_Homo sapiens_hsa050331.63691290
21Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.51314281
22Olfactory transduction_Homo sapiens_hsa047401.50638508
23Retinol metabolism_Homo sapiens_hsa008301.44091441
24Phototransduction_Homo sapiens_hsa047441.42659024
25One carbon pool by folate_Homo sapiens_hsa006701.42185581
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.40732579
27Hedgehog signaling pathway_Homo sapiens_hsa043401.39739887
28Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.31438039
29Selenocompound metabolism_Homo sapiens_hsa004501.31378917
30Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.21805198
31Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.21741326
32Steroid hormone biosynthesis_Homo sapiens_hsa001401.19645894
33Base excision repair_Homo sapiens_hsa034101.17820993
34Peroxisome_Homo sapiens_hsa041461.17810249
35Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.17692703
36Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.09902427
37Chemical carcinogenesis_Homo sapiens_hsa052041.04198812
38Caffeine metabolism_Homo sapiens_hsa002321.03030083
39RNA transport_Homo sapiens_hsa030131.03002735
40Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.01387834
41Linoleic acid metabolism_Homo sapiens_hsa005910.97415242
42RNA degradation_Homo sapiens_hsa030180.95860959
43Spliceosome_Homo sapiens_hsa030400.93430707
44Propanoate metabolism_Homo sapiens_hsa006400.90674645
45Purine metabolism_Homo sapiens_hsa002300.87119660
46GABAergic synapse_Homo sapiens_hsa047270.85774597
47Mismatch repair_Homo sapiens_hsa034300.82744243
48Pentose and glucuronate interconversions_Homo sapiens_hsa000400.80686065
49Glutathione metabolism_Homo sapiens_hsa004800.79857762
50DNA replication_Homo sapiens_hsa030300.79593896
51Morphine addiction_Homo sapiens_hsa050320.78621164
52Tryptophan metabolism_Homo sapiens_hsa003800.72709788
53Basal transcription factors_Homo sapiens_hsa030220.71916251
54Metabolic pathways_Homo sapiens_hsa011000.71372140
55Non-homologous end-joining_Homo sapiens_hsa034500.69976519
56Glutamatergic synapse_Homo sapiens_hsa047240.67737945
57Oocyte meiosis_Homo sapiens_hsa041140.67419885
58Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.64752579
59Ether lipid metabolism_Homo sapiens_hsa005650.61935262
60Nucleotide excision repair_Homo sapiens_hsa034200.61770120
61Circadian entrainment_Homo sapiens_hsa047130.61149110
62Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.60805275
63Nitrogen metabolism_Homo sapiens_hsa009100.60256089
64alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.60151743
65Basal cell carcinoma_Homo sapiens_hsa052170.58251180
66Pyrimidine metabolism_Homo sapiens_hsa002400.55702147
67Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.55513865
68Salivary secretion_Homo sapiens_hsa049700.54316912
69Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.53555401
70Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.51813687
71Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.51205344
72Axon guidance_Homo sapiens_hsa043600.50685252
73Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.46998725
74Serotonergic synapse_Homo sapiens_hsa047260.46671346
75Fat digestion and absorption_Homo sapiens_hsa049750.45537621
76Protein digestion and absorption_Homo sapiens_hsa049740.45188537
77Gastric acid secretion_Homo sapiens_hsa049710.44535208
78Cholinergic synapse_Homo sapiens_hsa047250.42300527
79Collecting duct acid secretion_Homo sapiens_hsa049660.41695340
80Primary immunodeficiency_Homo sapiens_hsa053400.41131103
81Arachidonic acid metabolism_Homo sapiens_hsa005900.40365707
82ABC transporters_Homo sapiens_hsa020100.39407586
83Drug metabolism - other enzymes_Homo sapiens_hsa009830.39268984
84Cell cycle_Homo sapiens_hsa041100.37512498
85Mineral absorption_Homo sapiens_hsa049780.37483230
86Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37042714
87Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.34921296
88Glycerolipid metabolism_Homo sapiens_hsa005610.34300566
89Pyruvate metabolism_Homo sapiens_hsa006200.34166920
90Starch and sucrose metabolism_Homo sapiens_hsa005000.33088506
91Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.29696539
92Tyrosine metabolism_Homo sapiens_hsa003500.29672326
93Insulin secretion_Homo sapiens_hsa049110.29651557
94Vitamin digestion and absorption_Homo sapiens_hsa049770.28050672
95TGF-beta signaling pathway_Homo sapiens_hsa043500.27782598
96Cocaine addiction_Homo sapiens_hsa050300.27345067
97Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.26609592
98Fatty acid degradation_Homo sapiens_hsa000710.26425409
99PPAR signaling pathway_Homo sapiens_hsa033200.26276308
100Pancreatic secretion_Homo sapiens_hsa049720.26269460

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