UQCRHL

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 has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)6.01429274
2DNA deamination (GO:0045006)4.76378649
3protein complex biogenesis (GO:0070271)3.90271270
4mitochondrial respiratory chain complex I assembly (GO:0032981)3.83084065
5NADH dehydrogenase complex assembly (GO:0010257)3.83084065
6mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.83084065
7response to pheromone (GO:0019236)3.72656553
8fucose catabolic process (GO:0019317)3.71404340
9L-fucose metabolic process (GO:0042354)3.71404340
10L-fucose catabolic process (GO:0042355)3.71404340
11water-soluble vitamin biosynthetic process (GO:0042364)3.69862839
12epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.66608014
13platelet dense granule organization (GO:0060155)3.59327038
14negative regulation of telomere maintenance (GO:0032205)3.53183250
15mitochondrial respiratory chain complex assembly (GO:0033108)3.50362794
16kynurenine metabolic process (GO:0070189)3.40110091
17tryptophan catabolic process (GO:0006569)3.37189645
18indole-containing compound catabolic process (GO:0042436)3.37189645
19indolalkylamine catabolic process (GO:0046218)3.37189645
20protein-cofactor linkage (GO:0018065)3.35026655
21detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.26493929
22respiratory chain complex IV assembly (GO:0008535)3.26290130
23ATP synthesis coupled proton transport (GO:0015986)3.26092584
24energy coupled proton transport, down electrochemical gradient (GO:0015985)3.26092584
25rRNA catabolic process (GO:0016075)3.20309653
26negative regulation of mast cell activation (GO:0033004)3.17150301
27indolalkylamine metabolic process (GO:0006586)3.14486470
28piRNA metabolic process (GO:0034587)3.11291493
29epithelial cilium movement (GO:0003351)3.11234021
30tryptophan metabolic process (GO:0006568)3.10862218
31preassembly of GPI anchor in ER membrane (GO:0016254)3.10165720
32mannosylation (GO:0097502)3.08207925
33mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.05816877
34primary amino compound metabolic process (GO:1901160)3.04628243
35nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.02933884
36neuronal action potential (GO:0019228)3.02385778
37axoneme assembly (GO:0035082)3.02004281
38indole-containing compound metabolic process (GO:0042430)2.97920077
39sulfation (GO:0051923)2.97136050
40regulation of cilium movement (GO:0003352)2.96787889
41cytochrome complex assembly (GO:0017004)2.96315639
42serotonin metabolic process (GO:0042428)2.96314165
43maturation of 5.8S rRNA (GO:0000460)2.93993796
44neural tube formation (GO:0001841)2.93094107
45exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.89771656
46S-adenosylmethionine metabolic process (GO:0046500)2.88903397
47mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.88192694
48establishment of protein localization to mitochondrial membrane (GO:0090151)2.85905413
49synaptic transmission, cholinergic (GO:0007271)2.83256057
50GPI anchor metabolic process (GO:0006505)2.81600506
51negative regulation of cytosolic calcium ion concentration (GO:0051481)2.81089250
52cellular ketone body metabolic process (GO:0046950)2.81082399
53RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.79886645
54detection of light stimulus involved in visual perception (GO:0050908)2.76720340
55detection of light stimulus involved in sensory perception (GO:0050962)2.76720340
56nonmotile primary cilium assembly (GO:0035058)2.75267537
57retinal cone cell development (GO:0046549)2.75175404
58phosphatidylinositol acyl-chain remodeling (GO:0036149)2.74031888
59protein neddylation (GO:0045116)2.73681507
60positive regulation of defense response to virus by host (GO:0002230)2.72348962
61regulation of rhodopsin mediated signaling pathway (GO:0022400)2.71791100
62somite development (GO:0061053)2.67682118
63cytidine metabolic process (GO:0046087)2.66805334
64cytidine catabolic process (GO:0006216)2.66805334
65cytidine deamination (GO:0009972)2.66805334
66negative regulation of reactive oxygen species metabolic process (GO:2000378)2.62756213
67rhodopsin mediated signaling pathway (GO:0016056)2.61466202
68pyrimidine nucleobase catabolic process (GO:0006208)2.61370630
69ubiquinone biosynthetic process (GO:0006744)2.57738155
70G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.56391287
71electron transport chain (GO:0022900)2.55418653
72ketone body metabolic process (GO:1902224)2.54757703
73kidney morphogenesis (GO:0060993)2.51637048
74chaperone-mediated protein transport (GO:0072321)2.51046460
75glycerophospholipid catabolic process (GO:0046475)2.49947283
76cilium movement (GO:0003341)2.49480060
77behavioral response to ethanol (GO:0048149)2.48975013
78respiratory electron transport chain (GO:0022904)2.48410512
79protein localization to cilium (GO:0061512)2.47981483
80protein polyglutamylation (GO:0018095)2.47825773
81regulation of action potential (GO:0098900)2.46472927
82amine catabolic process (GO:0009310)2.45882678
83cellular biogenic amine catabolic process (GO:0042402)2.45882678
84transmission of nerve impulse (GO:0019226)2.45830190
85dopamine transport (GO:0015872)2.42325724
86positive regulation of fatty acid transport (GO:2000193)2.42148031
87photoreceptor cell development (GO:0042461)2.41717342
88GPI anchor biosynthetic process (GO:0006506)2.40843139
89positive regulation of prostaglandin secretion (GO:0032308)2.40486929
90neuron fate determination (GO:0048664)2.40131815
91gamma-aminobutyric acid transport (GO:0015812)2.39153787
92protein deneddylation (GO:0000338)2.38742847
93intracellular protein transmembrane import (GO:0044743)2.38468281
94tRNA processing (GO:0008033)2.38298824
95positive regulation of oligodendrocyte differentiation (GO:0048714)2.38140358
96cilium or flagellum-dependent cell motility (GO:0001539)2.37493597
97regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.37456156
98photoreceptor cell maintenance (GO:0045494)2.37442912
99cilium morphogenesis (GO:0060271)2.37325055
100tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.36619546

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.84407780
2VDR_22108803_ChIP-Seq_LS180_Human3.46172083
3EZH2_22144423_ChIP-Seq_EOC_Human2.93020745
4GBX2_23144817_ChIP-Seq_PC3_Human2.78842224
5ZFP57_27257070_Chip-Seq_ESCs_Mouse2.47654260
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.39897622
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.38625354
8IGF1R_20145208_ChIP-Seq_DFB_Human2.37531799
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.35407115
10POU3F2_20337985_ChIP-ChIP_501MEL_Human2.27072526
11GABP_17652178_ChIP-ChIP_JURKAT_Human2.22154592
12FLI1_27457419_Chip-Seq_LIVER_Mouse2.19948349
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.17834658
14TAF15_26573619_Chip-Seq_HEK293_Human2.16946556
15EWS_26573619_Chip-Seq_HEK293_Human2.16171140
16NOTCH1_21737748_ChIP-Seq_TLL_Human2.07080509
17CTBP1_25329375_ChIP-Seq_LNCAP_Human2.06047347
18CTBP2_25329375_ChIP-Seq_LNCAP_Human2.02105189
19EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.93916716
20P300_19829295_ChIP-Seq_ESCs_Human1.90931985
21FUS_26573619_Chip-Seq_HEK293_Human1.90266592
22MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.88026502
23EST1_17652178_ChIP-ChIP_JURKAT_Human1.82209795
24ER_23166858_ChIP-Seq_MCF-7_Human1.77159174
25PCGF2_27294783_Chip-Seq_ESCs_Mouse1.75128958
26RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.71042759
27MYC_18940864_ChIP-ChIP_HL60_Human1.64556236
28MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.63503788
29TP53_22573176_ChIP-Seq_HFKS_Human1.55563560
30UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.49950088
31* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.47807516
32* FOXA1_25329375_ChIP-Seq_VCAP_Human1.47807516
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.47752265
34CBP_20019798_ChIP-Seq_JUKART_Human1.42441136
35IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.42441136
36BMI1_23680149_ChIP-Seq_NPCS_Mouse1.41667481
37BCAT_22108803_ChIP-Seq_LS180_Human1.40782851
38E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.40418339
39VDR_23849224_ChIP-Seq_CD4+_Human1.39454756
40GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.38632942
41ELK1_19687146_ChIP-ChIP_HELA_Human1.38632106
42CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38595073
43SOX2_19829295_ChIP-Seq_ESCs_Human1.38586389
44NANOG_19829295_ChIP-Seq_ESCs_Human1.38586389
45AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.38340750
46HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.37816128
47PCGF2_27294783_Chip-Seq_NPCs_Mouse1.37277856
48AR_25329375_ChIP-Seq_VCAP_Human1.37266310
49IRF1_19129219_ChIP-ChIP_H3396_Human1.34713211
50SUZ12_27294783_Chip-Seq_NPCs_Mouse1.31034870
51PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30720310
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.29926990
53REST_21632747_ChIP-Seq_MESCs_Mouse1.29794287
54FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.28219375
55AR_20517297_ChIP-Seq_VCAP_Human1.28001983
56MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.27807523
57PIAS1_25552417_ChIP-Seq_VCAP_Human1.27530794
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27349120
59TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27076257
60POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.27076257
61NFE2_27457419_Chip-Seq_LIVER_Mouse1.26990120
62FOXA1_21572438_ChIP-Seq_LNCaP_Human1.26850185
63RNF2_27304074_Chip-Seq_NSC_Mouse1.25423085
64* GATA3_21878914_ChIP-Seq_MCF-7_Human1.25030957
65SMAD4_21799915_ChIP-Seq_A2780_Human1.24455252
66NCOR_22424771_ChIP-Seq_293T_Human1.23370490
67TCF4_22108803_ChIP-Seq_LS180_Human1.23006150
68STAT3_23295773_ChIP-Seq_U87_Human1.22085235
69NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21482975
70TCF4_23295773_ChIP-Seq_U87_Human1.21220544
71KLF5_20875108_ChIP-Seq_MESCs_Mouse1.19971159
72RUNX2_22187159_ChIP-Seq_PCA_Human1.19053480
73ETV2_25802403_ChIP-Seq_MESCs_Mouse1.16873030
74EZH2_27294783_Chip-Seq_NPCs_Mouse1.16017490
75SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15575400
76SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.13635150
77NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.11941746
78PRDM14_20953172_ChIP-Seq_ESCs_Human1.11351383
79AUTS2_25519132_ChIP-Seq_293T-REX_Human1.10982101
80HOXB7_26014856_ChIP-Seq_BT474_Human1.10949404
81SMAD3_21741376_ChIP-Seq_EPCs_Human1.10489672
82ETS1_20019798_ChIP-Seq_JURKAT_Human1.09555379
83EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.09143360
84JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.07918408
85NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.06542852
86SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04784271
87CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.04431698
88MYC_19829295_ChIP-Seq_ESCs_Human1.00677033
89EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99687771
90SALL1_21062744_ChIP-ChIP_HESCs_Human0.98889070
91AR_21572438_ChIP-Seq_LNCaP_Human0.98131125
92OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97973059
93CRX_20693478_ChIP-Seq_RETINA_Mouse0.97826053
94POU5F1_16153702_ChIP-ChIP_HESCs_Human0.97450136
95TAF2_19829295_ChIP-Seq_ESCs_Human0.97101159
96P53_22387025_ChIP-Seq_ESCs_Mouse0.96982727
97* FOXH1_21741376_ChIP-Seq_EPCs_Human0.96840631
98SMAD4_21741376_ChIP-Seq_EPCs_Human0.96265726
99TAL1_26923725_Chip-Seq_HPCs_Mouse0.95966627
100TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.95815869

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation2.75271194
2MP0001968_abnormal_touch/_nociception2.55688639
3MP0002876_abnormal_thyroid_physiology2.51486025
4MP0003195_calcinosis2.49061119
5MP0002736_abnormal_nociception_after2.43010224
6MP0002102_abnormal_ear_morphology2.36710715
7MP0005551_abnormal_eye_electrophysiolog2.27051351
8MP0006072_abnormal_retinal_apoptosis2.21686839
9MP0002837_dystrophic_cardiac_calcinosis2.16320896
10MP0006292_abnormal_olfactory_placode2.14633227
11MP0008875_abnormal_xenobiotic_pharmacok2.12570594
12MP0005645_abnormal_hypothalamus_physiol2.12411084
13MP0004142_abnormal_muscle_tone2.01468498
14MP0008872_abnormal_physiological_respon1.96903839
15MP0002638_abnormal_pupillary_reflex1.95821324
16MP0003136_yellow_coat_color1.95739322
17MP0003646_muscle_fatigue1.94244184
18MP0005646_abnormal_pituitary_gland1.91789553
19MP0009745_abnormal_behavioral_response1.91657833
20MP0009046_muscle_twitch1.90132998
21MP0002272_abnormal_nervous_system1.85568903
22MP0003787_abnormal_imprinting1.84710180
23MP0004885_abnormal_endolymph1.81856209
24MP0000569_abnormal_digit_pigmentation1.80068291
25MP0003880_abnormal_central_pattern1.79023236
26MP0000372_irregular_coat_pigmentation1.68444764
27MP0001501_abnormal_sleep_pattern1.67071256
28MP0010386_abnormal_urinary_bladder1.61263439
29MP0000427_abnormal_hair_cycle1.61053883
30MP0005253_abnormal_eye_physiology1.59575550
31MP0002163_abnormal_gland_morphology1.59156306
32MP0002254_reproductive_system_inflammat1.58953701
33MP0004133_heterotaxia1.58592949
34MP0004147_increased_porphyrin_level1.58589287
35MP0000631_abnormal_neuroendocrine_gland1.52812987
36MP0003011_delayed_dark_adaptation1.50066927
37MP0001986_abnormal_taste_sensitivity1.49834527
38MP0006276_abnormal_autonomic_nervous1.47497338
39MP0008995_early_reproductive_senescence1.42041673
40MP0004742_abnormal_vestibular_system1.40290625
41MP0002735_abnormal_chemical_nociception1.38757760
42MP0001529_abnormal_vocalization1.37644314
43MP0002653_abnormal_ependyma_morphology1.36834017
44MP0002733_abnormal_thermal_nociception1.34748485
45MP0005084_abnormal_gallbladder_morpholo1.34414465
46MP0005389_reproductive_system_phenotype1.33322263
47MP0004043_abnormal_pH_regulation1.32841681
48MP0001905_abnormal_dopamine_level1.28843881
49MP0001485_abnormal_pinna_reflex1.28350954
50MP0001970_abnormal_pain_threshold1.27645287
51MP0002160_abnormal_reproductive_system1.25840434
52MP0004145_abnormal_muscle_electrophysio1.25092397
53MP0001873_stomach_inflammation1.24598627
54MP0001486_abnormal_startle_reflex1.23072576
55MP0001919_abnormal_reproductive_system1.22582500
56MP0002928_abnormal_bile_duct1.22086384
57MP0002064_seizures1.21154765
58MP0005671_abnormal_response_to1.21035370
59MP0002557_abnormal_social/conspecific_i1.19151007
60MP0002277_abnormal_respiratory_mucosa1.16756882
61MP0005379_endocrine/exocrine_gland_phen1.16518750
62MP0001984_abnormal_olfaction1.13919443
63MP0002938_white_spotting1.13077994
64MP0002572_abnormal_emotion/affect_behav1.10604530
65MP0002067_abnormal_sensory_capabilities1.09247404
66MP0002234_abnormal_pharynx_morphology1.08707040
67MP0005174_abnormal_tail_pigmentation1.06809428
68MP0005377_hearing/vestibular/ear_phenot1.04893573
69MP0003878_abnormal_ear_physiology1.04893573
70MP0008058_abnormal_DNA_repair0.95661321
71MP0005386_behavior/neurological_phenoty0.94236321
72MP0004924_abnormal_behavior0.94236321
73MP0003635_abnormal_synaptic_transmissio0.93054246
74MP0005195_abnormal_posterior_eye0.92938213
75MP0002063_abnormal_learning/memory/cond0.92309533
76MP0003252_abnormal_bile_duct0.91787829
77MP0000383_abnormal_hair_follicle0.90721685
78MP0003786_premature_aging0.89266193
79MP0008789_abnormal_olfactory_epithelium0.89072664
80MP0003283_abnormal_digestive_organ0.88298808
81MP0002095_abnormal_skin_pigmentation0.88165213
82MP0002693_abnormal_pancreas_physiology0.86279126
83MP0005075_abnormal_melanosome_morpholog0.85513355
84MP0005410_abnormal_fertilization0.84682127
85MP0000647_abnormal_sebaceous_gland0.84401186
86MP0000230_abnormal_systemic_arterial0.84155881
87MP0003698_abnormal_male_reproductive0.82724787
88MP0002229_neurodegeneration0.82457814
89MP0002752_abnormal_somatic_nervous0.80869256
90MP0005187_abnormal_penis_morphology0.80700586
91MP0002751_abnormal_autonomic_nervous0.80341862
92MP0001324_abnormal_eye_pigmentation0.79322778
93MP0001963_abnormal_hearing_physiology0.77955289
94MP0002210_abnormal_sex_determination0.77674763
95MP0000026_abnormal_inner_ear0.77631698
96MP0001502_abnormal_circadian_rhythm0.77381102
97MP0005085_abnormal_gallbladder_physiolo0.76843181
98MP0008775_abnormal_heart_ventricle0.76052036
99MP0003137_abnormal_impulse_conducting0.75793180
100MP0001293_anophthalmia0.75742967

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of midbrain morphology (HP:0002418)4.05345770
2Molar tooth sign on MRI (HP:0002419)4.05345770
3Pancreatic cysts (HP:0001737)4.00536337
4Congenital stationary night blindness (HP:0007642)3.96914240
5Pancreatic fibrosis (HP:0100732)3.68433490
6True hermaphroditism (HP:0010459)3.47146828
7Nephronophthisis (HP:0000090)3.36736607
8Abnormality of alanine metabolism (HP:0010916)3.24988806
9Hyperalaninemia (HP:0003348)3.24988806
10Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.24988806
11Abnormality of the renal cortex (HP:0011035)3.16934843
12Tubular atrophy (HP:0000092)3.11481873
13Type II lissencephaly (HP:0007260)3.02517738
14Abnormality of the renal medulla (HP:0100957)2.98261348
15Acute necrotizing encephalopathy (HP:0006965)2.92414969
16Mitochondrial inheritance (HP:0001427)2.90892662
17Increased CSF lactate (HP:0002490)2.83389797
183-Methylglutaconic aciduria (HP:0003535)2.82880767
19Medial flaring of the eyebrow (HP:0010747)2.81301071
20Congenital, generalized hypertrichosis (HP:0004540)2.81207317
21Abolished electroretinogram (ERG) (HP:0000550)2.78742810
22Abnormal rod and cone electroretinograms (HP:0008323)2.72226417
23Attenuation of retinal blood vessels (HP:0007843)2.58454776
24Progressive macrocephaly (HP:0004481)2.55602088
25Optic disc pallor (HP:0000543)2.54586097
26Polydipsia (HP:0001959)2.53406198
27Abnormal drinking behavior (HP:0030082)2.53406198
28Acute encephalopathy (HP:0006846)2.52154569
29Hepatocellular necrosis (HP:0001404)2.47933946
30Lipid accumulation in hepatocytes (HP:0006561)2.46991947
31Abnormal mitochondria in muscle tissue (HP:0008316)2.43549627
32Increased hepatocellular lipid droplets (HP:0006565)2.42199407
33Decreased central vision (HP:0007663)2.42139856
34Chronic hepatic failure (HP:0100626)2.39533941
35Large for gestational age (HP:0001520)2.38429824
36Methylmalonic acidemia (HP:0002912)2.37451435
37Cystic liver disease (HP:0006706)2.36787393
38Decreased electroretinogram (ERG) amplitude (HP:0000654)2.35183171
39Sclerocornea (HP:0000647)2.34768564
40Absent rod-and cone-mediated responses on ERG (HP:0007688)2.34280924
41Hepatic necrosis (HP:0002605)2.32213934
42Pendular nystagmus (HP:0012043)2.28398427
43Keratoconus (HP:0000563)2.27942707
44Increased corneal curvature (HP:0100692)2.27942707
45Hyperventilation (HP:0002883)2.25065997
46Renal cortical cysts (HP:0000803)2.23472789
47Inability to walk (HP:0002540)2.22849768
48Gaze-evoked nystagmus (HP:0000640)2.21927160
49Polyuria (HP:0000103)2.18841989
50Progressive inability to walk (HP:0002505)2.18690312
51Intestinal atresia (HP:0011100)2.15149783
52Lissencephaly (HP:0001339)2.14706904
53Gait imbalance (HP:0002141)2.13412210
54Absent/shortened dynein arms (HP:0200106)2.08643329
55Dynein arm defect of respiratory motile cilia (HP:0012255)2.08643329
56Concave nail (HP:0001598)2.07429178
57Aplasia/Hypoplasia of the spleen (HP:0010451)2.04540615
58Bile duct proliferation (HP:0001408)2.03591690
59Abnormal biliary tract physiology (HP:0012439)2.03591690
60Congenital primary aphakia (HP:0007707)2.02984676
61Hypothermia (HP:0002045)2.00218829
62Tubulointerstitial fibrosis (HP:0005576)2.00045361
63Asplenia (HP:0001746)1.99523247
64Congenital hepatic fibrosis (HP:0002612)1.98414654
65Furrowed tongue (HP:0000221)1.97946595
66Genetic anticipation (HP:0003743)1.96192658
67Methylmalonic aciduria (HP:0012120)1.95883689
68Increased serum lactate (HP:0002151)1.95302810
69Postaxial foot polydactyly (HP:0001830)1.89298651
70Abnormal respiratory epithelium morphology (HP:0012253)1.89215334
71Abnormal respiratory motile cilium morphology (HP:0005938)1.89215334
72Nephrogenic diabetes insipidus (HP:0009806)1.88545532
73Male pseudohermaphroditism (HP:0000037)1.88094997
74Renal Fanconi syndrome (HP:0001994)1.85916015
75Hypomagnesemia (HP:0002917)1.85596269
76Constricted visual fields (HP:0001133)1.85117286
77Genital tract atresia (HP:0001827)1.84979424
78Aplasia/Hypoplasia of the tibia (HP:0005772)1.84468610
79Aplasia/Hypoplasia of the tongue (HP:0010295)1.84333352
80Glycosuria (HP:0003076)1.83186297
81Abnormality of urine glucose concentration (HP:0011016)1.83186297
82Progressive cerebellar ataxia (HP:0002073)1.82144081
83Vaginal atresia (HP:0000148)1.79772686
84Focal motor seizures (HP:0011153)1.79638605
85Severe muscular hypotonia (HP:0006829)1.79363795
86Anencephaly (HP:0002323)1.79065390
87Cerebellar dysplasia (HP:0007033)1.78359728
88Hypoplasia of the pons (HP:0012110)1.77648605
89Abnormality of the pons (HP:0007361)1.77507011
90Tubulointerstitial abnormality (HP:0001969)1.77248419
91Lactic acidosis (HP:0003128)1.77189696
92Bony spicule pigmentary retinopathy (HP:0007737)1.75922897
93Retinal dysplasia (HP:0007973)1.74997889
94Optic nerve hypoplasia (HP:0000609)1.74204460
95Agitation (HP:0000713)1.73632290
96Rib fusion (HP:0000902)1.73166264
97Abnormality of macular pigmentation (HP:0008002)1.73116675
98Chorioretinal atrophy (HP:0000533)1.72968194
99Abnormal urine output (HP:0012590)1.72572358
100Pachygyria (HP:0001302)1.72416248

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.26482150
2ADRBK23.22763531
3BMPR1B3.09525792
4MAP4K22.96346496
5NUAK12.82125882
6ZAK2.55632459
7GRK12.40817625
8WNK32.27206230
9ACVR1B2.25887904
10TLK12.07845031
11TXK1.96566722
12PINK11.91990771
13WNK41.84686052
14TAOK31.78258519
15MAPK131.68793735
16INSRR1.53054101
17CAMKK21.48546058
18MAP3K41.40554884
19DYRK21.38870794
20TRIM281.37548151
21DAPK21.37255906
22OXSR11.26844969
23CASK1.26827503
24IRAK11.24847866
25STK391.20484508
26PLK21.16045571
27BCKDK1.15737145
28VRK11.15264318
29ADRBK11.12439946
30MKNK21.07977015
31PHKG21.01231582
32PHKG11.01231582
33MARK10.99835703
34PNCK0.98861992
35VRK20.97981392
36PRKCG0.96523264
37MAP2K70.92966568
38MST40.92859960
39PRKCE0.86724280
40PAK30.86022705
41CSNK1G20.83973962
42IKBKB0.81245396
43EIF2AK30.80094858
44MAPK150.79027325
45EPHA30.77881479
46TGFBR10.77031362
47CDK80.76465390
48RPS6KA50.76164456
49STK160.75994534
50BCR0.75041154
51CSNK1G30.74103838
52PRKCQ0.74038741
53CSNK1G10.71147176
54KIT0.70955547
55PLK40.68493261
56PLK30.68148336
57TNIK0.66231245
58TIE10.65590314
59TEC0.62593942
60ERBB30.61592589
61MAPKAPK50.60230779
62CAMK2A0.59254422
63ITK0.59159589
64RPS6KA40.57263650
65MAP2K60.57244253
66TAF10.56967826
67PTK2B0.56725474
68MKNK10.54825282
69MAPKAPK30.51919053
70PKN10.51564918
71NEK20.50867820
72STK110.50754213
73CAMK10.49470946
74CAMKK10.49420639
75PRKACA0.48736995
76CSNK1A1L0.46811262
77NTRK20.45969237
78CSNK1A10.44924728
79PASK0.44159392
80CCNB10.43884258
81SYK0.42348311
82TRPM70.41066396
83WEE10.40534755
84EPHA40.40002557
85CDK30.39711154
86BRSK20.38778972
87TNK20.37561922
88MUSK0.36827260
89PRKCA0.36515989
90PRKCI0.36390895
91LYN0.35239788
92PRKG10.35151798
93FLT30.34177680
94NME10.33867191
95PRKCZ0.32201605
96GRK50.29660861
97CSNK1D0.29536214
98MAP3K70.29309520
99OBSCN0.28909270
100PIK3CA0.28299277

Predicted pathways (KEGG)

RankGene SetZ-score
1* Oxidative phosphorylation_Homo sapiens_hsa001903.01075225
2Phototransduction_Homo sapiens_hsa047442.76404360
3Linoleic acid metabolism_Homo sapiens_hsa005912.62955425
4alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.52863037
5Protein export_Homo sapiens_hsa030602.52508041
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.40740410
7Parkinsons disease_Homo sapiens_hsa050122.37511522
8Nitrogen metabolism_Homo sapiens_hsa009102.24029709
9Caffeine metabolism_Homo sapiens_hsa002322.12341011
10Nicotine addiction_Homo sapiens_hsa050331.95123438
11RNA polymerase_Homo sapiens_hsa030201.92225411
12Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.89231418
13Ether lipid metabolism_Homo sapiens_hsa005651.87045137
14Asthma_Homo sapiens_hsa053101.84342996
15Butanoate metabolism_Homo sapiens_hsa006501.83148050
16Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.81720300
17Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.80757405
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.77931697
19Maturity onset diabetes of the young_Homo sapiens_hsa049501.72852381
20Intestinal immune network for IgA production_Homo sapiens_hsa046721.71159448
21Basal transcription factors_Homo sapiens_hsa030221.69701423
22Proteasome_Homo sapiens_hsa030501.61496338
23Homologous recombination_Homo sapiens_hsa034401.60136810
24Fanconi anemia pathway_Homo sapiens_hsa034601.52381554
25Huntingtons disease_Homo sapiens_hsa050161.51245481
26Selenocompound metabolism_Homo sapiens_hsa004501.50944315
27Alzheimers disease_Homo sapiens_hsa050101.50611949
28Olfactory transduction_Homo sapiens_hsa047401.49454400
29* Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.38939871
30RNA degradation_Homo sapiens_hsa030181.37161803
31Tryptophan metabolism_Homo sapiens_hsa003801.36200302
32One carbon pool by folate_Homo sapiens_hsa006701.30651159
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.29673680
34* Cardiac muscle contraction_Homo sapiens_hsa042601.29571494
35Type I diabetes mellitus_Homo sapiens_hsa049401.28397109
36Allograft rejection_Homo sapiens_hsa053301.21594637
37Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.20907362
38Peroxisome_Homo sapiens_hsa041461.19898784
39Autoimmune thyroid disease_Homo sapiens_hsa053201.13967477
40Arachidonic acid metabolism_Homo sapiens_hsa005901.12640193
41Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.12379318
42Graft-versus-host disease_Homo sapiens_hsa053321.11166141
43Ribosome_Homo sapiens_hsa030101.10471960
44Sulfur metabolism_Homo sapiens_hsa009201.09898084
45Taste transduction_Homo sapiens_hsa047421.08936644
46Primary immunodeficiency_Homo sapiens_hsa053401.06020463
47Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.05932131
48Propanoate metabolism_Homo sapiens_hsa006401.04666425
49Morphine addiction_Homo sapiens_hsa050321.01397268
50Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.97889075
51Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.96709633
52Chemical carcinogenesis_Homo sapiens_hsa052040.93335228
53Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.86311761
54Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.85923082
55Collecting duct acid secretion_Homo sapiens_hsa049660.85325863
56Steroid hormone biosynthesis_Homo sapiens_hsa001400.83738228
57Insulin secretion_Homo sapiens_hsa049110.78966730
58Regulation of autophagy_Homo sapiens_hsa041400.76608805
59Purine metabolism_Homo sapiens_hsa002300.75776648
60Retinol metabolism_Homo sapiens_hsa008300.73838155
61Primary bile acid biosynthesis_Homo sapiens_hsa001200.73414191
62Rheumatoid arthritis_Homo sapiens_hsa053230.72526308
63GABAergic synapse_Homo sapiens_hsa047270.71806398
64Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.71761231
65Glutamatergic synapse_Homo sapiens_hsa047240.71595082
66Serotonergic synapse_Homo sapiens_hsa047260.71341747
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70723488
68Pyrimidine metabolism_Homo sapiens_hsa002400.70018123
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.69232113
70Circadian entrainment_Homo sapiens_hsa047130.68923291
71Ovarian steroidogenesis_Homo sapiens_hsa049130.66476641
72ABC transporters_Homo sapiens_hsa020100.65898705
73Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.65503776
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.64211537
75Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.63658231
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.63584593
77Fat digestion and absorption_Homo sapiens_hsa049750.61698599
78* Metabolic pathways_Homo sapiens_hsa011000.61261759
79SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58249829
80Salivary secretion_Homo sapiens_hsa049700.58018437
81Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.56904711
82beta-Alanine metabolism_Homo sapiens_hsa004100.53258952
83Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.53151898
84Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.52838327
85Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.52451526
86Nucleotide excision repair_Homo sapiens_hsa034200.50819447
87Steroid biosynthesis_Homo sapiens_hsa001000.50265952
88Glycerolipid metabolism_Homo sapiens_hsa005610.50183054
89Dorso-ventral axis formation_Homo sapiens_hsa043200.49627745
90Antigen processing and presentation_Homo sapiens_hsa046120.46650305
91Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.46637644
92Cysteine and methionine metabolism_Homo sapiens_hsa002700.46304292
93Mineral absorption_Homo sapiens_hsa049780.44856721
94Non-homologous end-joining_Homo sapiens_hsa034500.42649309
95Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.41058352
96Calcium signaling pathway_Homo sapiens_hsa040200.40430162
97Hematopoietic cell lineage_Homo sapiens_hsa046400.38571137
98Pentose and glucuronate interconversions_Homo sapiens_hsa000400.34053872
99Fatty acid elongation_Homo sapiens_hsa000620.33605668
100Cyanoamino acid metabolism_Homo sapiens_hsa004600.33421095

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