PAAF1

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 encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)4.55411002
2response to pheromone (GO:0019236)3.77043880
3protein complex biogenesis (GO:0070271)3.74095780
4NADH dehydrogenase complex assembly (GO:0010257)3.68314066
5mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.68314066
6mitochondrial respiratory chain complex I assembly (GO:0032981)3.68314066
7fucose catabolic process (GO:0019317)3.55345053
8L-fucose metabolic process (GO:0042354)3.55345053
9L-fucose catabolic process (GO:0042355)3.55345053
10nonmotile primary cilium assembly (GO:0035058)3.49753772
11mitochondrial respiratory chain complex assembly (GO:0033108)3.47590945
12detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.45983835
13respiratory chain complex IV assembly (GO:0008535)3.42928702
14epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.23033090
15gamma-aminobutyric acid transport (GO:0015812)3.17802183
16replication fork processing (GO:0031297)3.15392820
17water-soluble vitamin biosynthetic process (GO:0042364)3.14693765
18epithelial cilium movement (GO:0003351)3.12997053
19protein polyglutamylation (GO:0018095)3.11696306
20kynurenine metabolic process (GO:0070189)3.09572788
21mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.08638758
22protein-cofactor linkage (GO:0018065)3.08497617
23tryptophan catabolic process (GO:0006569)3.07703586
24indole-containing compound catabolic process (GO:0042436)3.07703586
25indolalkylamine catabolic process (GO:0046218)3.07703586
26negative regulation of telomere maintenance (GO:0032205)3.07229396
27cytochrome complex assembly (GO:0017004)3.05602035
28DNA deamination (GO:0045006)3.03410655
29indolalkylamine metabolic process (GO:0006586)2.94994525
30DNA double-strand break processing (GO:0000729)2.89692530
31cellular ketone body metabolic process (GO:0046950)2.89382628
32regulation of cilium movement (GO:0003352)2.87574192
33pyrimidine nucleobase catabolic process (GO:0006208)2.86736598
34mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.85949028
35energy coupled proton transport, down electrochemical gradient (GO:0015985)2.84275541
36ATP synthesis coupled proton transport (GO:0015986)2.84275541
37detection of light stimulus involved in sensory perception (GO:0050962)2.83957048
38detection of light stimulus involved in visual perception (GO:0050908)2.83957048
39platelet dense granule organization (GO:0060155)2.83873494
40protein localization to cilium (GO:0061512)2.82890455
41cilium morphogenesis (GO:0060271)2.81265696
42neural tube formation (GO:0001841)2.77566123
43preassembly of GPI anchor in ER membrane (GO:0016254)2.76661464
44transmission of nerve impulse (GO:0019226)2.75533525
45ketone body metabolic process (GO:1902224)2.75147221
46cilium organization (GO:0044782)2.74771790
47postsynaptic membrane organization (GO:0001941)2.73253301
48RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.71802631
49tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.71802631
50presynaptic membrane assembly (GO:0097105)2.71277665
51tryptophan metabolic process (GO:0006568)2.70268532
52axoneme assembly (GO:0035082)2.70104707
53cornea development in camera-type eye (GO:0061303)2.69696552
54cilium assembly (GO:0042384)2.69126107
55intraciliary transport (GO:0042073)2.67397730
56establishment of protein localization to mitochondrial membrane (GO:0090151)2.66754831
57recombinational repair (GO:0000725)2.65067981
58behavioral response to ethanol (GO:0048149)2.64408755
59mannosylation (GO:0097502)2.64127192
60G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.61646024
61peptidyl-histidine modification (GO:0018202)2.61403481
62double-strand break repair via homologous recombination (GO:0000724)2.60619640
63cilium movement (GO:0003341)2.57102641
64reciprocal DNA recombination (GO:0035825)2.56958206
65reciprocal meiotic recombination (GO:0007131)2.56958206
66photoreceptor cell maintenance (GO:0045494)2.56238286
67negative regulation of synaptic transmission, GABAergic (GO:0032229)2.53854662
68L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.52684654
69nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.50799478
70retinal cone cell development (GO:0046549)2.49127484
71regulation of action potential (GO:0098900)2.48592485
72C4-dicarboxylate transport (GO:0015740)2.48210481
73somite development (GO:0061053)2.47746251
74centriole replication (GO:0007099)2.47449959
75piRNA metabolic process (GO:0034587)2.47407877
76electron transport chain (GO:0022900)2.46144162
77kidney morphogenesis (GO:0060993)2.45847988
78reflex (GO:0060004)2.45503004
79regulation of telomere maintenance (GO:0032204)2.44819934
80membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.44338945
81protein neddylation (GO:0045116)2.44055129
82ubiquinone biosynthetic process (GO:0006744)2.43943041
83presynaptic membrane organization (GO:0097090)2.43625105
84negative regulation of transcription regulatory region DNA binding (GO:2000678)2.42316525
85nucleobase catabolic process (GO:0046113)2.41350638
86startle response (GO:0001964)2.40702368
87respiratory electron transport chain (GO:0022904)2.40689434
88GPI anchor metabolic process (GO:0006505)2.39378631
89cellular biogenic amine catabolic process (GO:0042402)2.39133546
90amine catabolic process (GO:0009310)2.39133546
91photoreceptor cell development (GO:0042461)2.38772562
92negative regulation of cytosolic calcium ion concentration (GO:0051481)2.38571914
93ubiquinone metabolic process (GO:0006743)2.38217578
94exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.37475145
95inner ear receptor stereocilium organization (GO:0060122)2.37361027
96protein K11-linked deubiquitination (GO:0035871)2.36282787
97neuronal action potential (GO:0019228)2.36167403
98indole-containing compound metabolic process (GO:0042430)2.36067644
99neuronal action potential propagation (GO:0019227)2.35785973
100auditory receptor cell stereocilium organization (GO:0060088)2.35390110

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.74381734
2VDR_22108803_ChIP-Seq_LS180_Human3.22480504
3GBX2_23144817_ChIP-Seq_PC3_Human3.08018570
4EZH2_22144423_ChIP-Seq_EOC_Human2.84261685
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.70524272
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.50829654
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.48048147
8IGF1R_20145208_ChIP-Seq_DFB_Human2.39100660
9FUS_26573619_Chip-Seq_HEK293_Human2.29208410
10KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.27978859
11CTBP2_25329375_ChIP-Seq_LNCAP_Human2.25308777
12POU3F2_20337985_ChIP-ChIP_501MEL_Human2.24820733
13GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.22984865
14MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.21844546
15GABP_17652178_ChIP-ChIP_JURKAT_Human2.18426886
16EWS_26573619_Chip-Seq_HEK293_Human2.18158918
17E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.17647299
18TAF15_26573619_Chip-Seq_HEK293_Human2.09913615
19CTBP1_25329375_ChIP-Seq_LNCAP_Human2.08610612
20EST1_17652178_ChIP-ChIP_JURKAT_Human2.02389314
21FLI1_27457419_Chip-Seq_LIVER_Mouse2.01605288
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.99013084
23P300_19829295_ChIP-Seq_ESCs_Human1.97386816
24SALL1_21062744_ChIP-ChIP_HESCs_Human1.89633450
25ER_23166858_ChIP-Seq_MCF-7_Human1.72125893
26TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.70406825
27CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.67484987
28IRF1_19129219_ChIP-ChIP_H3396_Human1.65827603
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.63790279
30MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.61376676
31EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.60779921
32PCGF2_27294783_Chip-Seq_ESCs_Mouse1.58161918
33MYC_18940864_ChIP-ChIP_HL60_Human1.54897985
34TP53_22573176_ChIP-Seq_HFKS_Human1.53899994
35ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.51938487
36AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.47061865
37UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.45828279
38CBP_20019798_ChIP-Seq_JUKART_Human1.44701961
39IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.44701961
40ELK1_19687146_ChIP-ChIP_HELA_Human1.42417316
41STAT3_23295773_ChIP-Seq_U87_Human1.42320889
42SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.41687154
43CBX2_27304074_Chip-Seq_ESCs_Mouse1.41441846
44REST_21632747_ChIP-Seq_MESCs_Mouse1.40794393
45* SMAD4_21799915_ChIP-Seq_A2780_Human1.38248626
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.35311601
47BCAT_22108803_ChIP-Seq_LS180_Human1.33871616
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.32936930
49VDR_23849224_ChIP-Seq_CD4+_Human1.32653355
50MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.32065513
51SOX2_19829295_ChIP-Seq_ESCs_Human1.30943823
52NANOG_19829295_ChIP-Seq_ESCs_Human1.30943823
53AR_25329375_ChIP-Seq_VCAP_Human1.30867553
54TCF4_23295773_ChIP-Seq_U87_Human1.28914304
55TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.28878001
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.28878001
57PCGF2_27294783_Chip-Seq_NPCs_Mouse1.28856602
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.28441211
59GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.27037004
60KLF5_20875108_ChIP-Seq_MESCs_Mouse1.27000629
61ETS1_20019798_ChIP-Seq_JURKAT_Human1.26633723
62RNF2_27304074_Chip-Seq_NSC_Mouse1.26442427
63BMI1_23680149_ChIP-Seq_NPCS_Mouse1.26332542
64TOP2B_26459242_ChIP-Seq_MCF-7_Human1.24254649
65SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22950138
66SMAD3_21741376_ChIP-Seq_EPCs_Human1.22372868
67NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21991840
68RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.19956795
69JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.19264398
70TCF4_22108803_ChIP-Seq_LS180_Human1.19027923
71FOXA1_25329375_ChIP-Seq_VCAP_Human1.19009172
72FOXA1_27270436_Chip-Seq_PROSTATE_Human1.19009172
73POU5F1_16153702_ChIP-ChIP_HESCs_Human1.18512412
74NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.15847037
75SUZ12_27294783_Chip-Seq_NPCs_Mouse1.14751213
76RUNX2_22187159_ChIP-Seq_PCA_Human1.14544119
77SRF_21415370_ChIP-Seq_HL-1_Mouse1.13755727
78ETV2_25802403_ChIP-Seq_MESCs_Mouse1.09421616
79NFE2_27457419_Chip-Seq_LIVER_Mouse1.08912579
80EZH2_27294783_Chip-Seq_NPCs_Mouse1.08669625
81OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.08257070
82NCOR_22424771_ChIP-Seq_293T_Human1.07980044
83FOXA1_21572438_ChIP-Seq_LNCaP_Human1.06276884
84AR_20517297_ChIP-Seq_VCAP_Human1.04390253
85AR_21572438_ChIP-Seq_LNCaP_Human1.03097041
86NOTCH1_21737748_ChIP-Seq_TLL_Human1.02760739
87SMAD4_21741376_ChIP-Seq_EPCs_Human1.01119051
88GATA3_21878914_ChIP-Seq_MCF-7_Human1.00240277
89REST_18959480_ChIP-ChIP_MESCs_Mouse0.99526455
90CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.99030320
91FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.97975373
92NANOG_18555785_Chip-Seq_ESCs_Mouse0.97346963
93CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96645885
94HOXB7_26014856_ChIP-Seq_BT474_Human0.95587206
95CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.95571380
96TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.95273751
97AUTS2_25519132_ChIP-Seq_293T-REX_Human0.95192975
98P53_22387025_ChIP-Seq_ESCs_Mouse0.94612131
99FOXP3_21729870_ChIP-Seq_TREG_Human0.94547467
100FLI1_21867929_ChIP-Seq_TH2_Mouse0.94093227

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern2.84913159
2MP0002102_abnormal_ear_morphology2.68494403
3MP0000569_abnormal_digit_pigmentation2.55360348
4MP0003136_yellow_coat_color2.54990993
5MP0008877_abnormal_DNA_methylation2.39405280
6MP0006292_abnormal_olfactory_placode2.34974423
7MP0000372_irregular_coat_pigmentation2.33797492
8MP0002938_white_spotting2.22578735
9MP0005551_abnormal_eye_electrophysiolog2.19979628
10MP0002638_abnormal_pupillary_reflex2.19907706
11MP0001968_abnormal_touch/_nociception2.15709289
12MP0002736_abnormal_nociception_after2.12914649
13MP0009046_muscle_twitch2.08845922
14MP0004147_increased_porphyrin_level1.95136582
15MP0009745_abnormal_behavioral_response1.90046990
16MP0001984_abnormal_olfaction1.89726481
17MP0006276_abnormal_autonomic_nervous1.77848842
18MP0003195_calcinosis1.77510017
19MP0002272_abnormal_nervous_system1.75806490
20MP0004133_heterotaxia1.75517758
21MP0004142_abnormal_muscle_tone1.75517193
22MP0006072_abnormal_retinal_apoptosis1.71907767
23MP0001529_abnormal_vocalization1.71872495
24MP0003787_abnormal_imprinting1.69545621
25MP0005253_abnormal_eye_physiology1.68680194
26MP0001486_abnormal_startle_reflex1.67773685
27MP0003646_muscle_fatigue1.67265762
28MP0002653_abnormal_ependyma_morphology1.61083439
29MP0005646_abnormal_pituitary_gland1.59284076
30MP0001485_abnormal_pinna_reflex1.57441941
31MP0008872_abnormal_physiological_respon1.54145206
32MP0002837_dystrophic_cardiac_calcinosis1.52066603
33MP0005423_abnormal_somatic_nervous1.52005582
34MP0002735_abnormal_chemical_nociception1.51613014
35MP0002064_seizures1.48986332
36MP0004885_abnormal_endolymph1.48347200
37MP0008058_abnormal_DNA_repair1.48328011
38MP0000631_abnormal_neuroendocrine_gland1.42810293
39MP0008875_abnormal_xenobiotic_pharmacok1.42670907
40MP0000778_abnormal_nervous_system1.40842243
41MP0005645_abnormal_hypothalamus_physiol1.39964544
42MP0008789_abnormal_olfactory_epithelium1.38142143
43MP0002572_abnormal_emotion/affect_behav1.37750039
44MP0005174_abnormal_tail_pigmentation1.36630552
45MP0002557_abnormal_social/conspecific_i1.35932792
46MP0004043_abnormal_pH_regulation1.34783370
47MP0002234_abnormal_pharynx_morphology1.34070604
48MP0001986_abnormal_taste_sensitivity1.31882845
49MP0003635_abnormal_synaptic_transmissio1.30722175
50MP0002734_abnormal_mechanical_nocicepti1.29513334
51MP0005171_absent_coat_pigmentation1.23194321
52MP0003121_genomic_imprinting1.22689235
53MP0003122_maternal_imprinting1.21072293
54MP0003878_abnormal_ear_physiology1.20490819
55MP0005377_hearing/vestibular/ear_phenot1.20490819
56MP0002876_abnormal_thyroid_physiology1.18917859
57MP0000427_abnormal_hair_cycle1.18355646
58MP0001293_anophthalmia1.18173031
59MP0001970_abnormal_pain_threshold1.18061979
60MP0003718_maternal_effect1.16549562
61MP0002095_abnormal_skin_pigmentation1.15505133
62MP0002063_abnormal_learning/memory/cond1.14928119
63MP0002067_abnormal_sensory_capabilities1.14427436
64MP0003011_delayed_dark_adaptation1.13785054
65MP0001501_abnormal_sleep_pattern1.12351067
66MP0002733_abnormal_thermal_nociception1.09761202
67MP0008995_early_reproductive_senescence1.09465027
68MP0005084_abnormal_gallbladder_morpholo1.09103167
69MP0005499_abnormal_olfactory_system1.09024030
70MP0005394_taste/olfaction_phenotype1.09024030
71MP0005075_abnormal_melanosome_morpholog1.08858556
72MP0001905_abnormal_dopamine_level1.08227011
73MP0004742_abnormal_vestibular_system1.05581362
74MP0004924_abnormal_behavior1.03442686
75MP0005386_behavior/neurological_phenoty1.03442686
76MP0002160_abnormal_reproductive_system1.01391467
77MP0004859_abnormal_synaptic_plasticity1.00007307
78MP0005195_abnormal_posterior_eye0.99831189
79MP0004270_analgesia0.99120346
80MP0002751_abnormal_autonomic_nervous0.98704605
81MP0001324_abnormal_eye_pigmentation0.98520248
82MP0002822_catalepsy0.98061349
83MP0002752_abnormal_somatic_nervous0.97319825
84MP0004145_abnormal_muscle_electrophysio0.94859458
85MP0000026_abnormal_inner_ear0.94856540
86MP0002184_abnormal_innervation0.93453376
87MP0002928_abnormal_bile_duct0.93024274
88MP0003698_abnormal_male_reproductive0.90462749
89MP0000647_abnormal_sebaceous_gland0.89725248
90MP0001963_abnormal_hearing_physiology0.89049102
91MP0003283_abnormal_digestive_organ0.89010452
92MP0005389_reproductive_system_phenotype0.88333038
93MP0003937_abnormal_limbs/digits/tail_de0.86190819
94MP0003119_abnormal_digestive_system0.85803090
95MP0003137_abnormal_impulse_conducting0.83977769
96MP0010386_abnormal_urinary_bladder0.82407805
97MP0002882_abnormal_neuron_morphology0.82056711
98MP0001929_abnormal_gametogenesis0.80982817
99MP0000955_abnormal_spinal_cord0.80324326
100MP0005410_abnormal_fertilization0.79984202

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.29152321
2Molar tooth sign on MRI (HP:0002419)4.04937706
3Abnormality of midbrain morphology (HP:0002418)4.04937706
4True hermaphroditism (HP:0010459)3.96584803
5Pancreatic fibrosis (HP:0100732)3.92950675
6Nephronophthisis (HP:0000090)3.62355885
7Medial flaring of the eyebrow (HP:0010747)3.40629352
8Congenital stationary night blindness (HP:0007642)3.33380311
9Abnormality of the renal medulla (HP:0100957)3.03837420
10Gait imbalance (HP:0002141)2.90806245
11Chronic hepatic failure (HP:0100626)2.86613519
12Acute necrotizing encephalopathy (HP:0006965)2.78890159
13Congenital primary aphakia (HP:0007707)2.78137021
14Mitochondrial inheritance (HP:0001427)2.77766205
15Abnormality of the renal cortex (HP:0011035)2.76997649
16Increased CSF lactate (HP:0002490)2.76409444
17Nephrogenic diabetes insipidus (HP:0009806)2.61745413
18Acute encephalopathy (HP:0006846)2.59393448
19Cystic liver disease (HP:0006706)2.59023273
20Hyperventilation (HP:0002883)2.54164682
21Abnormal mitochondria in muscle tissue (HP:0008316)2.50943416
22Abnormality of the labia minora (HP:0012880)2.48833033
23Hepatocellular necrosis (HP:0001404)2.44911936
24Progressive macrocephaly (HP:0004481)2.43281302
25Genital tract atresia (HP:0001827)2.42436332
26Abolished electroretinogram (ERG) (HP:0000550)2.41859847
27Vaginal atresia (HP:0000148)2.38893711
28Sclerocornea (HP:0000647)2.37867444
29Type II lissencephaly (HP:0007260)2.37217264
30Aplasia/Hypoplasia of the tongue (HP:0010295)2.35624153
31Abnormality of alanine metabolism (HP:0010916)2.34411961
32Hyperalaninemia (HP:0003348)2.34411961
33Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.34411961
34Lipid accumulation in hepatocytes (HP:0006561)2.32398373
35Focal motor seizures (HP:0011153)2.31953059
36Tubular atrophy (HP:0000092)2.29121909
37Attenuation of retinal blood vessels (HP:0007843)2.28388325
38Polydipsia (HP:0001959)2.24832965
39Abnormal drinking behavior (HP:0030082)2.24832965
40Hepatic necrosis (HP:0002605)2.24086906
41Abnormal biliary tract physiology (HP:0012439)2.22079944
42Bile duct proliferation (HP:0001408)2.22079944
43Anencephaly (HP:0002323)2.19472302
44Increased hepatocellular lipid droplets (HP:0006565)2.19243173
45Inability to walk (HP:0002540)2.16232837
46Postaxial foot polydactyly (HP:0001830)2.15158630
47Lissencephaly (HP:0001339)2.14962837
48Broad-based gait (HP:0002136)2.12141731
49Gaze-evoked nystagmus (HP:0000640)2.07824862
50Congenital hepatic fibrosis (HP:0002612)2.07515464
51Aplasia/Hypoplasia of the tibia (HP:0005772)2.05947465
52Pendular nystagmus (HP:0012043)2.05326256
53Progressive cerebellar ataxia (HP:0002073)2.02952135
54Methylmalonic acidemia (HP:0002912)2.02710809
55Colon cancer (HP:0003003)2.02544964
56Progressive inability to walk (HP:0002505)2.02028582
57Optic disc pallor (HP:0000543)2.01876855
58Renal cortical cysts (HP:0000803)2.00593726
59Intestinal atresia (HP:0011100)1.99739870
60Hyperglycinemia (HP:0002154)1.99283942
61Febrile seizures (HP:0002373)1.98894757
62Postaxial hand polydactyly (HP:0001162)1.97264880
63Abnormal rod and cone electroretinograms (HP:0008323)1.97258494
64Patellar aplasia (HP:0006443)1.95248622
65Poor coordination (HP:0002370)1.95111695
66Hyperglycinuria (HP:0003108)1.93522454
67Methylmalonic aciduria (HP:0012120)1.92892344
68Optic nerve hypoplasia (HP:0000609)1.91546795
69Focal seizures (HP:0007359)1.91251802
70Increased serum lactate (HP:0002151)1.88444855
71Renal Fanconi syndrome (HP:0001994)1.88061626
72Aplasia/Hypoplasia of the uvula (HP:0010293)1.86104145
733-Methylglutaconic aciduria (HP:0003535)1.85520184
74Large for gestational age (HP:0001520)1.84642241
75Preaxial hand polydactyly (HP:0001177)1.84392501
76Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.83899896
77Hemiparesis (HP:0001269)1.83880819
78Polyuria (HP:0000103)1.83107107
79Male pseudohermaphroditism (HP:0000037)1.82700405
80Aplasia/Hypoplasia of the patella (HP:0006498)1.82168233
81Retinal dysplasia (HP:0007973)1.80701634
82Increased corneal curvature (HP:0100692)1.80528010
83Keratoconus (HP:0000563)1.80528010
84Abnormality of the pons (HP:0007361)1.80047978
85Abnormality of the ileum (HP:0001549)1.79149671
86Furrowed tongue (HP:0000221)1.79026092
87Dialeptic seizures (HP:0011146)1.77892341
88Atonic seizures (HP:0010819)1.77675955
89Oligodactyly (hands) (HP:0001180)1.77531411
90Cerebellar dysplasia (HP:0007033)1.77351048
91Absent/shortened dynein arms (HP:0200106)1.77179096
92Dynein arm defect of respiratory motile cilia (HP:0012255)1.77179096
93Concave nail (HP:0001598)1.76622936
94Dandy-Walker malformation (HP:0001305)1.75706636
95Astigmatism (HP:0000483)1.75610213
96Meckel diverticulum (HP:0002245)1.75412754
97Aganglionic megacolon (HP:0002251)1.75133659
98Occipital encephalocele (HP:0002085)1.74698354
99Hypoplasia of the pons (HP:0012110)1.74622980
100Anophthalmia (HP:0000528)1.74505032

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.98021338
2MAP4K22.97621648
3BMPR1B2.89245826
4WNK32.66341368
5ZAK2.44698682
6ADRBK22.35149675
7NUAK12.30798769
8CASK2.08458370
9TRIM281.99365889
10WNK41.95431115
11MAPK131.95190802
12INSRR1.93561064
13PINK11.92631915
14GRK11.92082989
15MAP3K41.87043251
16EPHA41.75734326
17VRK21.70283599
18TLK11.63244512
19MARK11.56575536
20ACVR1B1.53134374
21VRK11.53079624
22TNIK1.51002615
23MAP2K71.48858703
24MKNK21.40324153
25PLK21.38995173
26STK161.37126064
27BCKDK1.32869860
28WEE11.30633203
29STK391.30127852
30DAPK21.25967975
31OXSR11.20903684
32DYRK21.20544856
33PAK31.17779443
34PRKCG1.13923679
35TAOK31.12980967
36PLK31.11310663
37CSNK1G21.08752860
38PNCK1.08447054
39PLK41.06634269
40BRSK21.03795089
41FGFR21.00027050
42NME10.98736062
43BCR0.96958025
44NTRK30.96567376
45ADRBK10.95762777
46CSNK1G10.94580488
47CSNK1G30.94015802
48MKNK10.93215073
49PRKCE0.92202465
50TGFBR10.85474887
51NTRK20.84644443
52CSNK1A1L0.83518760
53STK38L0.78265747
54MUSK0.76890543
55TIE10.68496699
56PIK3CA0.66569987
57CCNB10.66222769
58CDC70.65873156
59PHKG10.64882406
60PHKG20.64882406
61CDK190.64491264
62EIF2AK30.64385070
63PLK10.63543648
64PDK20.63157217
65PKN10.62336353
66CAMK2A0.61689636
67MAPKAPK50.61419802
68TXK0.60210626
69PTK2B0.59694031
70MINK10.59487516
71NEK20.57807988
72ATR0.57509523
73MST40.56510758
74NEK10.56015414
75RPS6KA50.55892631
76BUB10.55304895
77PAK60.54726334
78ERBB30.54444823
79TSSK60.52709303
80MAPK150.52648334
81CAMK10.50583793
82CSNK1A10.50503945
83SIK20.50088267
84MAP2K60.47290926
85DYRK1A0.47275825
86CDK30.46995064
87CAMKK20.46112310
88SRPK10.45780609
89GRK50.45173083
90MAPKAPK30.44703754
91TAF10.44528537
92OBSCN0.44463560
93PRKACA0.42297175
94CHEK20.42041395
95CSNK1D0.36333023
96ATM0.34059659
97PASK0.33807139
98PRKCQ0.33556632
99PRKCI0.32517585
100PRKCA0.32126319

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001902.94329904
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.54133819
3Parkinsons disease_Homo sapiens_hsa050122.41396299
4Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.31333441
5Phototransduction_Homo sapiens_hsa047442.28121353
6Butanoate metabolism_Homo sapiens_hsa006502.25677624
7Nicotine addiction_Homo sapiens_hsa050332.25037127
8Homologous recombination_Homo sapiens_hsa034402.24337249
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.08326589
10Nitrogen metabolism_Homo sapiens_hsa009102.02253056
11Protein export_Homo sapiens_hsa030602.00885761
12RNA polymerase_Homo sapiens_hsa030201.99190306
13Propanoate metabolism_Homo sapiens_hsa006401.94167005
14Fanconi anemia pathway_Homo sapiens_hsa034601.92156634
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.90696734
16Linoleic acid metabolism_Homo sapiens_hsa005911.84683190
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.82141419
18Proteasome_Homo sapiens_hsa030501.81639139
19alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.76615767
20Basal transcription factors_Homo sapiens_hsa030221.71278727
21Huntingtons disease_Homo sapiens_hsa050161.70235177
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.59703188
23Alzheimers disease_Homo sapiens_hsa050101.53886835
24Selenocompound metabolism_Homo sapiens_hsa004501.53800273
25Cardiac muscle contraction_Homo sapiens_hsa042601.43869219
26Tryptophan metabolism_Homo sapiens_hsa003801.43434189
27Caffeine metabolism_Homo sapiens_hsa002321.41719063
28Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.40680715
29Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.37756416
30Peroxisome_Homo sapiens_hsa041461.35210905
31Ether lipid metabolism_Homo sapiens_hsa005651.33192547
32Primary bile acid biosynthesis_Homo sapiens_hsa001201.31679919
33Maturity onset diabetes of the young_Homo sapiens_hsa049501.31090562
34RNA degradation_Homo sapiens_hsa030181.30254585
35One carbon pool by folate_Homo sapiens_hsa006701.29215829
36Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.24736739
37Taste transduction_Homo sapiens_hsa047421.22912907
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.15609118
39Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.12980635
40Ribosome_Homo sapiens_hsa030101.11433226
41Olfactory transduction_Homo sapiens_hsa047401.10586167
42Steroid biosynthesis_Homo sapiens_hsa001001.07979459
43Morphine addiction_Homo sapiens_hsa050321.07258754
44GABAergic synapse_Homo sapiens_hsa047271.06553226
45beta-Alanine metabolism_Homo sapiens_hsa004101.04224808
46Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.01981140
47Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.99233484
48Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.98944384
49Chemical carcinogenesis_Homo sapiens_hsa052040.98528831
50Non-homologous end-joining_Homo sapiens_hsa034500.97111557
51Nucleotide excision repair_Homo sapiens_hsa034200.96918635
52Collecting duct acid secretion_Homo sapiens_hsa049660.96627018
53Steroid hormone biosynthesis_Homo sapiens_hsa001400.96584377
54Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.95620973
55Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.94607649
56Mismatch repair_Homo sapiens_hsa034300.93371626
57Purine metabolism_Homo sapiens_hsa002300.92042735
58Glutamatergic synapse_Homo sapiens_hsa047240.87001952
59Circadian entrainment_Homo sapiens_hsa047130.86820528
60Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.86074868
61Pyrimidine metabolism_Homo sapiens_hsa002400.82276824
62Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.80831872
63Regulation of autophagy_Homo sapiens_hsa041400.80272996
64Insulin secretion_Homo sapiens_hsa049110.80247764
65Metabolic pathways_Homo sapiens_hsa011000.80066381
66Fatty acid elongation_Homo sapiens_hsa000620.80014772
67Base excision repair_Homo sapiens_hsa034100.79892993
68ABC transporters_Homo sapiens_hsa020100.79810685
69Retinol metabolism_Homo sapiens_hsa008300.75233169
70Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.73855993
71Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.73187154
72Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.73095180
73Cysteine and methionine metabolism_Homo sapiens_hsa002700.72380835
74Serotonergic synapse_Homo sapiens_hsa047260.69546090
75Sulfur relay system_Homo sapiens_hsa041220.68501589
76Fatty acid metabolism_Homo sapiens_hsa012120.65947712
77Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.63765752
78Fatty acid degradation_Homo sapiens_hsa000710.61061224
79Arachidonic acid metabolism_Homo sapiens_hsa005900.60585660
80Histidine metabolism_Homo sapiens_hsa003400.55816899
81RNA transport_Homo sapiens_hsa030130.54965735
82Pentose and glucuronate interconversions_Homo sapiens_hsa000400.53962164
83Fat digestion and absorption_Homo sapiens_hsa049750.53579970
84Dopaminergic synapse_Homo sapiens_hsa047280.53103031
85Calcium signaling pathway_Homo sapiens_hsa040200.52872452
86Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.52488669
87Glycerolipid metabolism_Homo sapiens_hsa005610.49360196
88Salivary secretion_Homo sapiens_hsa049700.48492243
89Pyruvate metabolism_Homo sapiens_hsa006200.48054897
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.46918776
91Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.46539398
92DNA replication_Homo sapiens_hsa030300.46286296
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.46007472
94Synaptic vesicle cycle_Homo sapiens_hsa047210.44964328
95Arginine and proline metabolism_Homo sapiens_hsa003300.44810806
96Ovarian steroidogenesis_Homo sapiens_hsa049130.42544072
97Hedgehog signaling pathway_Homo sapiens_hsa043400.42098521
98Amphetamine addiction_Homo sapiens_hsa050310.41668287
99Glutathione metabolism_Homo sapiens_hsa004800.41390076
100Cocaine addiction_Homo sapiens_hsa050300.41262082

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