POM121L9P

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 locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1acrosome reaction (GO:0007340)6.86284711
2positive regulation of catecholamine secretion (GO:0033605)6.36166179
3sperm motility (GO:0030317)6.27657707
4regulation of phosphoprotein phosphatase activity (GO:0043666)5.46972965
5spermatid development (GO:0007286)5.45682186
6positive regulation of synaptic transmission, dopaminergic (GO:0032226)5.36169750
7multicellular organism reproduction (GO:0032504)5.13266681
8male meiosis (GO:0007140)4.27480572
9regulation of oxidative phosphorylation (GO:0002082)4.24646455
10motile cilium assembly (GO:0044458)4.00667999
11activation of protein kinase B activity (GO:0032148)3.95483186
12binding of sperm to zona pellucida (GO:0007339)3.94373041
13cilium or flagellum-dependent cell motility (GO:0001539)3.92755555
14positive regulation of fatty acid oxidation (GO:0046321)3.88516444
15behavioral response to nicotine (GO:0035095)3.87934812
16coenzyme catabolic process (GO:0009109)3.87548842
17tryptophan metabolic process (GO:0006568)3.78556525
18mesenchymal-epithelial cell signaling (GO:0060638)3.78319440
19calcium ion-dependent exocytosis (GO:0017156)3.69608310
20negative regulation of smooth muscle contraction (GO:0045986)3.69586831
21indole-containing compound catabolic process (GO:0042436)3.69451423
22indolalkylamine catabolic process (GO:0046218)3.69451423
23tryptophan catabolic process (GO:0006569)3.69451423
24reproduction (GO:0000003)3.66571360
25sperm-egg recognition (GO:0035036)3.64413119
26relaxation of smooth muscle (GO:0044557)3.59701792
27regulation of dopamine secretion (GO:0014059)3.58707745
28axonemal dynein complex assembly (GO:0070286)3.57285607
29epithelial cilium movement (GO:0003351)3.55561609
30organic cation transport (GO:0015695)3.53544479
31tooth mineralization (GO:0034505)3.46041366
32cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.45178406
33single fertilization (GO:0007338)3.40240668
34indolalkylamine metabolic process (GO:0006586)3.39125467
35fusion of sperm to egg plasma membrane (GO:0007342)3.37354942
36peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.37205719
37regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.34708089
38regulation of oxidative stress-induced neuron death (GO:1903203)3.31245577
39cell migration involved in heart development (GO:0060973)3.28854760
40Leydig cell differentiation (GO:0033327)3.27814773
41sulfation (GO:0051923)3.24644595
42primary amino compound metabolic process (GO:1901160)3.22899276
43cell-cell recognition (GO:0009988)3.20350395
44positive regulation of fatty acid beta-oxidation (GO:0032000)3.15047454
45serotonin metabolic process (GO:0042428)3.13440970
46tongue development (GO:0043586)3.10696199
47positive regulation of protein kinase C signaling (GO:0090037)3.09763540
48negative regulation of platelet activation (GO:0010544)3.09129421
49DNA methylation involved in gamete generation (GO:0043046)3.08559595
50regulation of hydrogen peroxide metabolic process (GO:0010310)3.07902969
51germ cell development (GO:0007281)3.07472036
52phosphatidylethanolamine biosynthetic process (GO:0006646)3.03043689
53positive regulation of digestive system process (GO:0060456)2.97981504
54kidney mesenchyme development (GO:0072074)2.97713426
55cGMP-mediated signaling (GO:0019934)2.97089882
56rRNA methylation (GO:0031167)2.93461587
57epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.93420942
58potassium ion export (GO:0071435)2.93026691
59dermatan sulfate biosynthetic process (GO:0030208)2.92642586
60dermatan sulfate metabolic process (GO:0030205)2.90646806
61cranial nerve morphogenesis (GO:0021602)2.90326387
62regulation of ARF GTPase activity (GO:0032312)2.87054624
63positive regulation of metanephros development (GO:0072216)2.83901510
64positive regulation of glycolytic process (GO:0045821)2.81756666
65cilium movement (GO:0003341)2.80594052
66phosphatidylethanolamine metabolic process (GO:0046337)2.76400586
67cellular response to pH (GO:0071467)2.75154849
68indole-containing compound metabolic process (GO:0042430)2.74640144
69organ induction (GO:0001759)2.68069300
70oligosaccharide biosynthetic process (GO:0009312)2.66792655
71urinary tract smooth muscle contraction (GO:0014848)2.66659272
72androgen biosynthetic process (GO:0006702)2.65496975
73negative regulation of muscle contraction (GO:0045932)2.64429449
74regulation of metanephros development (GO:0072215)2.64266819
75negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.64130493
76regulation of synaptic transmission, dopaminergic (GO:0032225)2.63792122
77positive regulation of cardiac muscle cell differentiation (GO:2000727)2.62112361
78plasma membrane fusion (GO:0045026)2.61751122
79diacylglycerol metabolic process (GO:0046339)2.61657424
80piRNA metabolic process (GO:0034587)2.59744953
81polyamine biosynthetic process (GO:0006596)2.58334976
82response to acidic pH (GO:0010447)2.56671585
83cell proliferation in forebrain (GO:0021846)2.55927018
84thyroid gland development (GO:0030878)2.54956133
85metanephric mesenchyme development (GO:0072075)2.52252788
86cellular process involved in reproduction in multicellular organism (GO:0022412)2.52081472
87synapsis (GO:0007129)2.52070728
88protein heterotrimerization (GO:0070208)2.50964816
89male sex determination (GO:0030238)2.50315297
90negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.49529097
91mitochondrion degradation (GO:0000422)2.48504866
92fertilization (GO:0009566)2.47673612
93regulation of protein kinase C signaling (GO:0090036)2.47526943
94membrane repolarization during action potential (GO:0086011)2.46641931
95outer ear morphogenesis (GO:0042473)2.45588743
96acrosome assembly (GO:0001675)2.43900198
97heme transport (GO:0015886)2.41342469
98regulation of apoptotic process involved in morphogenesis (GO:1902337)2.41042776
99cellular response to ATP (GO:0071318)2.40914285
100regulation of hydrogen peroxide-induced cell death (GO:1903205)2.40016378

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse9.46230428
2EZH2_22144423_ChIP-Seq_EOC_Human3.12420150
3BP1_19119308_ChIP-ChIP_Hs578T_Human2.79803477
4IGF1R_20145208_ChIP-Seq_DFB_Human2.79506372
5AR_21572438_ChIP-Seq_LNCaP_Human2.29712052
6EED_16625203_ChIP-ChIP_MESCs_Mouse2.15851168
7MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.10603446
8ESR1_20079471_ChIP-ChIP_T-47D_Human2.06721491
9GBX2_23144817_ChIP-Seq_PC3_Human2.01141835
10VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.92372319
11BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.77205874
12JARID2_20075857_ChIP-Seq_MESCs_Mouse1.68558596
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.63881447
14EZH2_27294783_Chip-Seq_ESCs_Mouse1.63612900
15CTBP2_25329375_ChIP-Seq_LNCAP_Human1.61659703
16POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.58038223
17TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.58038223
18RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.57667437
19EZH2_18974828_ChIP-Seq_MESCs_Mouse1.54564830
20RNF2_18974828_ChIP-Seq_MESCs_Mouse1.54564830
21ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.54167597
22ER_23166858_ChIP-Seq_MCF-7_Human1.50952830
23SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.49828451
24CTCF_27219007_Chip-Seq_Bcells_Human1.49771586
25SUZ12_27294783_Chip-Seq_ESCs_Mouse1.47222951
26TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46102294
27SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.45612268
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.45279978
29CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.43610866
30ARNT_22903824_ChIP-Seq_MCF-7_Human1.41310261
31SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.39628614
32FUS_26573619_Chip-Seq_HEK293_Human1.39086516
33ERA_21632823_ChIP-Seq_H3396_Human1.37636854
34TP53_18474530_ChIP-ChIP_U2OS_Human1.36310955
35AHR_22903824_ChIP-Seq_MCF-7_Human1.34360189
36RARG_19884340_ChIP-ChIP_MEFs_Mouse1.34103238
37JARID2_20064375_ChIP-Seq_MESCs_Mouse1.33644514
38SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33080530
39EZH2_27304074_Chip-Seq_ESCs_Mouse1.32011520
40SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.31608350
41CJUN_26792858_Chip-Seq_BT549_Human1.31541218
42RAC3_21632823_ChIP-Seq_H3396_Human1.28070954
43DROSHA_22980978_ChIP-Seq_HELA_Human1.27229358
44RAD21_21589869_ChIP-Seq_MESCs_Mouse1.27206747
45CTBP1_25329375_ChIP-Seq_LNCAP_Human1.26960466
46MTF2_20144788_ChIP-Seq_MESCs_Mouse1.25984235
47SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.25056660
48ZNF274_21170338_ChIP-Seq_K562_Hela1.22396427
49OCT4_20526341_ChIP-Seq_ESCs_Human1.21491466
50IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.19427703
51CBP_20019798_ChIP-Seq_JUKART_Human1.19427703
52SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.18316802
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.18298050
54RNF2_27304074_Chip-Seq_ESCs_Mouse1.17130389
55* NANOG_20526341_ChIP-Seq_ESCs_Human1.14836256
56TP53_20018659_ChIP-ChIP_R1E_Mouse1.10518253
57SMAD4_21741376_ChIP-Seq_EPCs_Human1.09534040
58EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.09467511
59PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.08114132
60SMC4_20622854_ChIP-Seq_HELA_Human1.05156357
61MYC_19829295_ChIP-Seq_ESCs_Human1.04726076
62EGR1_23403033_ChIP-Seq_LIVER_Mouse1.04535431
63EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.03817372
64EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.03329452
65SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.02114743
66RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.02112807
67UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.00478314
68OCT1_27270436_Chip-Seq_PROSTATE_Human0.99701077
69HOXB7_26014856_ChIP-Seq_BT474_Human0.99642670
70FOXH1_21741376_ChIP-Seq_ESCs_Human0.99442625
71BMI1_23680149_ChIP-Seq_NPCS_Mouse0.98347598
72STAT3_23295773_ChIP-Seq_U87_Human0.97826163
73WDR5_24793694_ChIP-Seq_LNCAP_Human0.97466164
74TDRD3_21172665_ChIP-Seq_MCF-7_Human0.96054833
75BCAT_22108803_ChIP-Seq_LS180_Human0.95651771
76KLF5_20875108_ChIP-Seq_MESCs_Mouse0.95289814
77RXR_22108803_ChIP-Seq_LS180_Human0.94886724
78PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94164109
79P300_19829295_ChIP-Seq_ESCs_Human0.92766742
80SMAD4_21799915_ChIP-Seq_A2780_Human0.92540193
81TBL1_22424771_ChIP-Seq_293T_Human0.92348641
82TP53_22127205_ChIP-Seq_IMR90_Human0.92312536
83P53_22127205_ChIP-Seq_FIBROBLAST_Human0.91562819
84CTCF_20526341_ChIP-Seq_ESCs_Human0.91442628
85TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.91023732
86LXR_22292898_ChIP-Seq_THP-1_Human0.90800407
87SMAD3_21741376_ChIP-Seq_EPCs_Human0.90298654
88TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.90091105
89AR_25329375_ChIP-Seq_VCAP_Human0.89596651
90P68_20966046_ChIP-Seq_HELA_Human0.89378733
91TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.88991856
92PRDM14_20953172_ChIP-Seq_ESCs_Human0.86926107
93AUTS2_25519132_ChIP-Seq_293T-REX_Human0.86052931
94MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.86046917
95RUNX2_22187159_ChIP-Seq_PCA_Human0.85327416
96TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.83009994
97TP63_22573176_ChIP-Seq_HFKS_Human0.82573376
98TP53_23651856_ChIP-Seq_MEFs_Mouse0.82034966
99SMAD4_21741376_ChIP-Seq_HESCs_Human0.81373877
100TOP2B_26459242_ChIP-Seq_MCF-7_Human0.80969589

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization6.23908662
2MP0008438_abnormal_cutaneous_collagen4.20909134
3MP0005171_absent_coat_pigmentation4.20566071
4MP0005503_abnormal_tendon_morphology4.18704978
5MP0005360_urolithiasis3.49283025
6MP0002160_abnormal_reproductive_system3.35118126
7MP0008004_abnormal_stomach_pH3.30561492
8MP0003279_aneurysm2.82594702
9MP0003136_yellow_coat_color2.75270114
10MP0003315_abnormal_perineum_morphology2.53434394
11MP0003045_fibrosis2.51606068
12MP0002837_dystrophic_cardiac_calcinosis2.34376734
13MP0004272_abnormal_basement_membrane2.25282305
14MP0005275_abnormal_skin_tensile2.24094993
15MP0003646_muscle_fatigue1.94944740
16MP0009250_abnormal_appendicular_skeleto1.94921426
17MP0005670_abnormal_white_adipose1.92667879
18MP0000538_abnormal_urinary_bladder1.90890744
19MP0003698_abnormal_male_reproductive1.90686109
20MP0010368_abnormal_lymphatic_system1.90033413
21MP0001958_emphysema1.82135887
22MP0002138_abnormal_hepatobiliary_system1.78595214
23MP0002295_abnormal_pulmonary_circulatio1.70457813
24MP0010386_abnormal_urinary_bladder1.63548097
25MP0002249_abnormal_larynx_morphology1.61171695
26MP0009384_cardiac_valve_regurgitation1.60251570
27MP0002108_abnormal_muscle_morphology1.59572792
28MP0001664_abnormal_digestion1.58768663
29MP0003879_abnormal_hair_cell1.53734072
30MP0001929_abnormal_gametogenesis1.52250220
31MP0005389_reproductive_system_phenotype1.50756036
32MP0003011_delayed_dark_adaptation1.47823579
33MP0000049_abnormal_middle_ear1.43279194
34MP0002132_abnormal_respiratory_system1.41192807
35MP0005083_abnormal_biliary_tract1.40801171
36MP0000749_muscle_degeneration1.31968211
37MP0003705_abnormal_hypodermis_morpholog1.27297153
38MP0000678_abnormal_parathyroid_gland1.26478291
39MP0005647_abnormal_sex_gland1.23201055
40MP0005508_abnormal_skeleton_morphology1.16634606
41MP0002163_abnormal_gland_morphology1.13711832
42MP0001905_abnormal_dopamine_level1.11791933
43MP0005646_abnormal_pituitary_gland1.11221350
44MP0001348_abnormal_lacrimal_gland1.10526304
45MP0002168_other_aberrant_phenotype1.08920769
46MP0005595_abnormal_vascular_smooth1.06833128
47MP0004134_abnormal_chest_morphology1.05725785
48MP0000767_abnormal_smooth_muscle1.04798938
49MP0000534_abnormal_ureter_morphology1.02822356
50MP0009697_abnormal_copulation1.02418591
51MP0002653_abnormal_ependyma_morphology0.96624893
52MP0001299_abnormal_eye_distance/0.96485380
53MP0000751_myopathy0.94226720
54MP0002161_abnormal_fertility/fecundity0.91117745
55MP0001485_abnormal_pinna_reflex0.90606597
56MP0002210_abnormal_sex_determination0.89782663
57MP0001984_abnormal_olfaction0.89386713
58MP0002115_abnormal_skeleton_extremities0.89374808
59MP0001270_distended_abdomen0.88791126
60MP0004085_abnormal_heartbeat0.87469168
61MP0001661_extended_life_span0.87198856
62MP0003942_abnormal_urinary_system0.86781781
63MP0000163_abnormal_cartilage_morphology0.86476090
64MP0002933_joint_inflammation0.86429109
65MP0001145_abnormal_male_reproductive0.86325324
66MP0001879_abnormal_lymphatic_vessel0.85890546
67MP0002282_abnormal_trachea_morphology0.85371383
68MP0005174_abnormal_tail_pigmentation0.84253262
69MP0005379_endocrine/exocrine_gland_phen0.83469625
70MP0005620_abnormal_muscle_contractility0.82418349
71MP0004130_abnormal_muscle_cell0.81420650
72MP0000569_abnormal_digit_pigmentation0.80413328
73MP0002127_abnormal_cardiovascular_syste0.79859642
74MP0005551_abnormal_eye_electrophysiolog0.78961960
75MP0000026_abnormal_inner_ear0.78395287
76MP0000653_abnormal_sex_gland0.78299145
77MP0003936_abnormal_reproductive_system0.77913388
78MP0000470_abnormal_stomach_morphology0.77772777
79MP0004381_abnormal_hair_follicle0.75477785
80MP0001502_abnormal_circadian_rhythm0.75394201
81MP0000230_abnormal_systemic_arterial0.74226222
82MP0001756_abnormal_urination0.74086381
83MP0008872_abnormal_physiological_respon0.73665070
84MP0003385_abnormal_body_wall0.71931294
85MP0003950_abnormal_plasma_membrane0.71758737
86MP0004145_abnormal_muscle_electrophysio0.70788242
87MP0002932_abnormal_joint_morphology0.69968858
88MP0005058_abnormal_lysosome_morphology0.67536010
89MP0000013_abnormal_adipose_tissue0.66965905
90MP0001968_abnormal_touch/_nociception0.66746813
91MP0005187_abnormal_penis_morphology0.65606541
92MP0000733_abnormal_muscle_development0.64549778
93MP0001849_ear_inflammation0.64450190
94MP0002971_abnormal_brown_adipose0.62631523
95MP0005623_abnormal_meninges_morphology0.60924847
96MP0002116_abnormal_craniofacial_bone0.59574989
97MP0001501_abnormal_sleep_pattern0.59212346
98MP0000681_abnormal_thyroid_gland0.58029941
99MP0005395_other_phenotype0.57686265
100MP0004036_abnormal_muscle_relaxation0.56973876

Predicted human phenotypes

RankGene SetZ-score
1Resting tremor (HP:0002322)4.15386139
2Abnormality of the columella (HP:0009929)3.94893186
3Dynein arm defect of respiratory motile cilia (HP:0012255)3.86350331
4Absent/shortened dynein arms (HP:0200106)3.86350331
5Cerebellar dysplasia (HP:0007033)3.76023136
6Hypoplasia of the uterus (HP:0000013)3.47090129
7Abnormal ciliary motility (HP:0012262)3.28593371
8Type II lissencephaly (HP:0007260)3.13414102
9Congenital sensorineural hearing impairment (HP:0008527)3.12996543
10Abnormal sex determination (HP:0012244)3.12170332
11Sex reversal (HP:0012245)3.12170332
12Aortic aneurysm (HP:0004942)3.11496577
13Abnormal respiratory motile cilium physiology (HP:0012261)3.00962950
14Premature rupture of membranes (HP:0001788)2.83952341
15Broad ribs (HP:0000885)2.80265272
16Thoracolumbar scoliosis (HP:0002944)2.79570696
17Keratoconus (HP:0000563)2.69338348
18Increased corneal curvature (HP:0100692)2.69338348
19Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.63050587
20Abnormal respiratory epithelium morphology (HP:0012253)2.60872124
21Abnormal respiratory motile cilium morphology (HP:0005938)2.60872124
22Chronic hepatic failure (HP:0100626)2.60733790
23Reduced antithrombin III activity (HP:0001976)2.60011312
24Hypoventilation (HP:0002791)2.56625523
25Thoracic kyphosis (HP:0002942)2.56419173
26Soft skin (HP:0000977)2.55141717
27Infertility (HP:0000789)2.54582316
28Male pseudohermaphroditism (HP:0000037)2.50408332
29Protrusio acetabuli (HP:0003179)2.49932004
30Ventricular fibrillation (HP:0001663)2.49050805
31Pendular nystagmus (HP:0012043)2.44809692
32Gonadal dysgenesis (HP:0000133)2.44612532
33Aortic dissection (HP:0002647)2.44539311
34Redundant skin (HP:0001582)2.44259413
35Genu recurvatum (HP:0002816)2.43318021
36Sensory axonal neuropathy (HP:0003390)2.37255489
37Aplasia/hypoplasia of the uterus (HP:0008684)2.36754868
38Abnormality of the intrinsic pathway (HP:0010989)2.33288089
39Bladder diverticulum (HP:0000015)2.33095137
40Spinal rigidity (HP:0003306)2.32358151
41Postural instability (HP:0002172)2.25189865
42Vascular tortuosity (HP:0004948)2.24210738
43Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.23396369
44Short 4th metacarpal (HP:0010044)2.23396369
45Enlarged kidneys (HP:0000105)2.23104633
46Buphthalmos (HP:0000557)2.22373027
47Neoplasm of the heart (HP:0100544)2.19071962
48Broad metatarsal (HP:0001783)2.15974541
49Bony spicule pigmentary retinopathy (HP:0007737)2.15970319
50Protruding tongue (HP:0010808)2.14346849
51Bell-shaped thorax (HP:0001591)2.08739783
52Rectal prolapse (HP:0002035)2.07210285
53Abnormality of dentin (HP:0010299)2.07075090
54Occipital encephalocele (HP:0002085)2.06028617
55Severe visual impairment (HP:0001141)2.05735646
56Abnormality of the anterior chamber (HP:0000593)2.05207336
57Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.04829937
58Pulmonary artery stenosis (HP:0004415)2.01363690
59Inability to walk (HP:0002540)2.00617078
60Mesomelia (HP:0003027)1.98661085
61Deformed sella turcica (HP:0002681)1.98522890
62Abnormality of the odontoid process (HP:0003310)1.97847292
63Follicular hyperkeratosis (HP:0007502)1.94273711
64Turricephaly (HP:0000262)1.92733742
65Prolonged QT interval (HP:0001657)1.89975761
66Vitreoretinal degeneration (HP:0000655)1.89688655
67Genetic anticipation (HP:0003743)1.89328942
68Abnormality of the 4th metacarpal (HP:0010012)1.88981099
69Pancreatic cysts (HP:0001737)1.88062132
70Coxa valga (HP:0002673)1.87760337
71Abnormality of the frontal sinuses (HP:0002687)1.85933281
72Carpal synostosis (HP:0009702)1.85830796
73Abnormality of the thoracic spine (HP:0100711)1.84451634
74Short phalanx of the thumb (HP:0009660)1.83319775
75Cystic liver disease (HP:0006706)1.81540933
76Carpal bone hypoplasia (HP:0001498)1.80931568
77Spontaneous hematomas (HP:0007420)1.80310393
78Anterior segment dysgenesis (HP:0007700)1.79760757
79Progressive cerebellar ataxia (HP:0002073)1.78492285
80Abnormality of the sella turcica (HP:0002679)1.76949448
81Germ cell neoplasia (HP:0100728)1.76700971
82Arterial tortuosity (HP:0005116)1.76594981
83Radial bowing (HP:0002986)1.76388074
84Hypoplasia of the odontoid process (HP:0003311)1.76365169
85Hypothermia (HP:0002045)1.75010520
86Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.74577554
87Short middle phalanx of the 5th finger (HP:0004220)1.74542821
88Bulbous nose (HP:0000414)1.74432835
89Facial hemangioma (HP:0000329)1.73232680
90Nephronophthisis (HP:0000090)1.73090548
91Amelogenesis imperfecta (HP:0000705)1.70226701
92Attenuation of retinal blood vessels (HP:0007843)1.70036984
93Chorioretinal atrophy (HP:0000533)1.67142625
94Absent thumb (HP:0009777)1.66899384
95Renal dysplasia (HP:0000110)1.66420729
96Abnormality of the nasal mucosa (HP:0000433)1.65575394
97Type 1 muscle fiber predominance (HP:0003803)1.64964183
98Abnormality of the lumbar spine (HP:0100712)1.64787563
99Difficulty walking (HP:0002355)1.64523837
100Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.64090663

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PINK18.15461298
2LATS14.58546504
3MARK33.74591033
4ZAK3.37565731
5MYLK3.11698730
6STK38L2.90810122
7LATS22.64585788
8FRK2.60033781
9TLK12.56560840
10ADRBK22.33275939
11NEK22.23705106
12STK382.20148008
13DDR22.10797142
14RPS6KA51.79317287
15PTK2B1.59023319
16MAPK151.57825053
17BMPR1B1.51244426
18PRKD31.49009149
19GRK11.43097194
20INSRR1.42358527
21PDGFRA1.30511839
22PKN21.28074956
23NLK1.23639582
24MELK1.02568808
25CSNK1A1L1.02048295
26MST1R0.97569708
27MAP2K70.97124183
28CDC42BPA0.91403246
29PRKD20.87953939
30TRIB30.86952477
31PDPK10.84301016
32PDGFRB0.84145602
33CDK30.84045539
34WNK40.81395228
35ADRBK10.80377640
36SGK2230.76122554
37SGK4940.76122554
38TGFBR10.74664548
39PIK3CG0.72691187
40PAK20.70558244
41PRKG20.68703347
42MUSK0.65861216
43CSNK1G30.65664532
44OBSCN0.64988917
45VRK10.63830950
46TIE10.63723221
47CSNK1G10.63231661
48AKT30.62853294
49PRKCQ0.60462129
50FGFR20.58302366
51DAPK30.56958719
52SIK20.56883673
53PRKCH0.56162796
54TRPM70.54476103
55RET0.53176889
56PLK40.52473439
57EPHA30.52450950
58CDK80.51206089
59MET0.49824983
60MTOR0.49119387
61DYRK30.48510393
62CSNK1G20.46953869
63STK30.46737028
64RPS6KA20.45403566
65PRKAA20.44102886
66ACVR1B0.43920564
67ROCK10.43810753
68ERN10.42446296
69TGFBR20.41977104
70PKN10.39320169
71MAP4K20.38381768
72PAK30.37556260
73PRKD10.36243834
74KIT0.36058201
75CAMK10.35601093
76ABL20.35480486
77MAPK10.34655560
78PRKG10.34199527
79GRK50.33973518
80PDK10.33440481
81MAP3K10.33373899
82PRKAA10.32388631
83CLK10.31841177
84TNK20.31565290
85MAPKAPK30.31415464
86ILK0.29655743
87MAP2K20.27813246
88WNK10.25817746
89RPS6KA60.25683529
90PNCK0.24953544
91CSNK1A10.24015223
92FLT30.23950544
93CDK120.21663927
94MAPK110.21435244
95PAK10.21373535
96ERBB20.20076025
97MAP2K60.19779957
98PRKCG0.19764211
99EIF2AK30.19401330
100PRKCE0.19247671

Predicted pathways (KEGG)

RankGene SetZ-score
1Gap junction_Homo sapiens_hsa045403.32906923
2Hedgehog signaling pathway_Homo sapiens_hsa043402.73683561
3Nitrogen metabolism_Homo sapiens_hsa009102.73237204
4Systemic lupus erythematosus_Homo sapiens_hsa053222.66398885
5Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.30043674
6ECM-receptor interaction_Homo sapiens_hsa045122.14341137
7Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.12659558
8Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.03257939
9Alcoholism_Homo sapiens_hsa050341.95679656
10Olfactory transduction_Homo sapiens_hsa047401.94737385
11Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.83989800
12Fatty acid biosynthesis_Homo sapiens_hsa000611.82971951
13Sulfur relay system_Homo sapiens_hsa041221.78478533
14Dorso-ventral axis formation_Homo sapiens_hsa043201.73145469
15Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.70529172
16Tryptophan metabolism_Homo sapiens_hsa003801.56889977
17PPAR signaling pathway_Homo sapiens_hsa033201.56643219
18Taste transduction_Homo sapiens_hsa047421.56389612
19Steroid hormone biosynthesis_Homo sapiens_hsa001401.52914492
20Chemical carcinogenesis_Homo sapiens_hsa052041.52854022
21Phototransduction_Homo sapiens_hsa047441.47118237
22Vascular smooth muscle contraction_Homo sapiens_hsa042701.43894098
23Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.38065770
24Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.36204544
25Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.34666454
26Calcium signaling pathway_Homo sapiens_hsa040201.34579643
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.32144626
28Dilated cardiomyopathy_Homo sapiens_hsa054141.31135960
29Mineral absorption_Homo sapiens_hsa049781.28558632
30cGMP-PKG signaling pathway_Homo sapiens_hsa040221.27972010
31Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.26641613
32Selenocompound metabolism_Homo sapiens_hsa004501.26295198
33Butanoate metabolism_Homo sapiens_hsa006501.23476965
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.15116648
35Melanoma_Homo sapiens_hsa052181.14447510
36ABC transporters_Homo sapiens_hsa020101.14051652
37Glycerolipid metabolism_Homo sapiens_hsa005611.12205183
38Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.08631000
39Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.07397743
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.05303489
41Protein digestion and absorption_Homo sapiens_hsa049741.04164495
42Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.03300642
43Circadian rhythm_Homo sapiens_hsa047101.02487240
44Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.00014869
45Nicotine addiction_Homo sapiens_hsa050330.99391648
46Fatty acid degradation_Homo sapiens_hsa000710.98653330
47Renin secretion_Homo sapiens_hsa049240.97978215
48Arginine biosynthesis_Homo sapiens_hsa002200.94087590
49TGF-beta signaling pathway_Homo sapiens_hsa043500.92008455
50Histidine metabolism_Homo sapiens_hsa003400.91481872
51Glutathione metabolism_Homo sapiens_hsa004800.88847232
52Phenylalanine metabolism_Homo sapiens_hsa003600.88540894
53Morphine addiction_Homo sapiens_hsa050320.85796571
54Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.84729216
55Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.82899188
56Focal adhesion_Homo sapiens_hsa045100.82082639
57Maturity onset diabetes of the young_Homo sapiens_hsa049500.81132725
58Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.79565935
59Phagosome_Homo sapiens_hsa041450.79141671
60Salivary secretion_Homo sapiens_hsa049700.78448038
61Vitamin digestion and absorption_Homo sapiens_hsa049770.77896970
62Circadian entrainment_Homo sapiens_hsa047130.74434202
63Basal cell carcinoma_Homo sapiens_hsa052170.74146715
64Oxytocin signaling pathway_Homo sapiens_hsa049210.73954687
65Apoptosis_Homo sapiens_hsa042100.73017063
66Adipocytokine signaling pathway_Homo sapiens_hsa049200.72331390
67beta-Alanine metabolism_Homo sapiens_hsa004100.71899572
68Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.71675020
69N-Glycan biosynthesis_Homo sapiens_hsa005100.67399763
70Glucagon signaling pathway_Homo sapiens_hsa049220.67029593
71Complement and coagulation cascades_Homo sapiens_hsa046100.66926682
72Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.66378966
73Ovarian steroidogenesis_Homo sapiens_hsa049130.65812940
74Insulin secretion_Homo sapiens_hsa049110.64706129
75Tyrosine metabolism_Homo sapiens_hsa003500.63328667
76Longevity regulating pathway - mammal_Homo sapiens_hsa042110.62726610
77Sphingolipid metabolism_Homo sapiens_hsa006000.60771525
78Gastric acid secretion_Homo sapiens_hsa049710.59087444
79Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.57601559
80GABAergic synapse_Homo sapiens_hsa047270.57543708
81cAMP signaling pathway_Homo sapiens_hsa040240.56489199
82Glycerophospholipid metabolism_Homo sapiens_hsa005640.55870037
83Retinol metabolism_Homo sapiens_hsa008300.55364327
84Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.54739693
85Bile secretion_Homo sapiens_hsa049760.54649904
86MAPK signaling pathway_Homo sapiens_hsa040100.54305477
87Glutamatergic synapse_Homo sapiens_hsa047240.52356236
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.52076251
89Aldosterone synthesis and secretion_Homo sapiens_hsa049250.51585070
90alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.51458579
91Transcriptional misregulation in cancer_Homo sapiens_hsa052020.48622245
92Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.46945007
93Type II diabetes mellitus_Homo sapiens_hsa049300.42769280
94PI3K-Akt signaling pathway_Homo sapiens_hsa041510.42335346
95Wnt signaling pathway_Homo sapiens_hsa043100.41841589
96Cholinergic synapse_Homo sapiens_hsa047250.41306491
97Cyanoamino acid metabolism_Homo sapiens_hsa004600.39451577
98Glycosaminoglycan degradation_Homo sapiens_hsa005310.39215669
99Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.38797363
100Serotonergic synapse_Homo sapiens_hsa047260.38615610

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