ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of mitochondrial fission (GO:0090141)	5.24981657
2	pyrimidine nucleobase catabolic process (GO:0006208)	4.74333632
3	cullin deneddylation (GO:0010388)	4.21981815
4	nonmotile primary cilium assembly (GO:0035058)	4.06499545
5	platelet dense granule organization (GO:0060155)	4.03288864
6	intraciliary transport (GO:0042073)	3.98461323
7	nucleobase catabolic process (GO:0046113)	3.95582923
8	protein deneddylation (GO:0000338)	3.77673769
9	L-serine metabolic process (GO:0006563)	3.69322668
10	protein neddylation (GO:0045116)	3.67897018
11	protein localization to cilium (GO:0061512)	3.57239430
12	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.46025272
13	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.46025272
14	NADH dehydrogenase complex assembly (GO:0010257)	3.46025272
15	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	3.43849803
16	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	3.43849803
17	organelle disassembly (GO:1903008)	3.41166365
18	regulation of mitochondrial fission (GO:0090140)	3.40281856
19	sequestering of actin monomers (GO:0042989)	3.36600739
20	ribonucleoprotein complex disassembly (GO:0032988)	3.36347504
21	regulation of cilium movement (GO:0003352)	3.35566732
22	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.31887057
23	protein complex biogenesis (GO:0070271)	3.31643507
24	proteasome assembly (GO:0043248)	3.31602686
25	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.24041382
26	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.24041382
27	iron-sulfur cluster assembly (GO:0016226)	3.21858020
28	metallo-sulfur cluster assembly (GO:0031163)	3.21858020
29	anterograde synaptic vesicle transport (GO:0048490)	3.19604514
30	DNA double-strand break processing (GO:0000729)	3.15671757
31	GPI anchor metabolic process (GO:0006505)	3.04280214
32	preassembly of GPI anchor in ER membrane (GO:0016254)	3.03379799
33	aldehyde catabolic process (GO:0046185)	3.03216698
34	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.03184215
35	branched-chain amino acid catabolic process (GO:0009083)	3.02531387
36	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	3.02212031
37	mitochondrial respiratory chain complex assembly (GO:0033108)	2.99647886
38	peptidyl-histidine modification (GO:0018202)	2.99113743
39	behavioral response to nicotine (GO:0035095)	2.98199060
40	cilium morphogenesis (GO:0060271)	2.98144999
41	ubiquinone metabolic process (GO:0006743)	2.97979182
42	chaperone-mediated protein transport (GO:0072321)	2.95268647
43	cholesterol biosynthetic process (GO:0006695)	2.93763402
44	epithelial cilium movement (GO:0003351)	2.89664551
45	melanosome transport (GO:0032402)	2.89086725
46	amino acid salvage (GO:0043102)	2.88678603
47	L-methionine salvage (GO:0071267)	2.88678603
48	L-methionine biosynthetic process (GO:0071265)	2.88678603
49	isoprenoid biosynthetic process (GO:0008299)	2.88012365
50	water-soluble vitamin biosynthetic process (GO:0042364)	2.87846286
51	C-terminal protein lipidation (GO:0006501)	2.86686635
52	mannosylation (GO:0097502)	2.85543218
53	GPI anchor biosynthetic process (GO:0006506)	2.85252604
54	response to pheromone (GO:0019236)	2.84778717
55	glycosphingolipid biosynthetic process (GO:0006688)	2.83631297
56	sterol biosynthetic process (GO:0016126)	2.81499494
57	DNA damage response, detection of DNA damage (GO:0042769)	2.81489791
58	DNA integration (GO:0015074)	2.81216915
59	establishment of melanosome localization (GO:0032401)	2.78734021
60	base-excision repair, AP site formation (GO:0006285)	2.76515451
61	ubiquinone biosynthetic process (GO:0006744)	2.75665533
62	respiratory chain complex IV assembly (GO:0008535)	2.75635530
63	protein polyglutamylation (GO:0018095)	2.75402080
64	C-terminal protein amino acid modification (GO:0018410)	2.74950644
65	protein-cofactor linkage (GO:0018065)	2.73553856
66	peroxisome fission (GO:0016559)	2.73138869
67	establishment of mitochondrion localization (GO:0051654)	2.72226363
68	pigment granule transport (GO:0051904)	2.71674103
69	glycolipid biosynthetic process (GO:0009247)	2.70943254
70	histone H2A acetylation (GO:0043968)	2.69748601
71	cilium organization (GO:0044782)	2.68725650
72	regulation of feeding behavior (GO:0060259)	2.68502472
73	cilium assembly (GO:0042384)	2.68083576
74	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.67099237
75	melanosome localization (GO:0032400)	2.64696532
76	establishment of pigment granule localization (GO:0051905)	2.62528587
77	positive regulation of TOR signaling (GO:0032008)	2.60434123
78	negative regulation of response to food (GO:0032096)	2.59937482
79	negative regulation of appetite (GO:0032099)	2.59937482
80	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.58014888
81	neural tube formation (GO:0001841)	2.57874873
82	C4-dicarboxylate transport (GO:0015740)	2.57653666
83	photoreceptor cell maintenance (GO:0045494)	2.56241798
84	regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	2.54283423
85	axoneme assembly (GO:0035082)	2.54230109
86	regulation of development, heterochronic (GO:0040034)	2.53601056
87	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.52392164
88	olfactory bulb development (GO:0021772)	2.51858783
89	retinal ganglion cell axon guidance (GO:0031290)	2.51829083
90	pigment granule localization (GO:0051875)	2.50349032
91	presynaptic membrane assembly (GO:0097105)	2.47695080
92	neuron cell-cell adhesion (GO:0007158)	2.45748843
93	synapse assembly (GO:0007416)	2.44179766
94	gamma-aminobutyric acid transport (GO:0015812)	2.41403176
95	negative regulation of heart rate (GO:0010459)	2.39264776
96	quinone metabolic process (GO:1901661)	2.37460974
97	cilium movement (GO:0003341)	2.37185138
98	auditory behavior (GO:0031223)	2.36470940
99	mitochondrial fission (GO:0000266)	2.36276956
100	cornea development in camera-type eye (GO:0061303)	2.35720087

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.53062236
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.50435231
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.47557401
4	IGF1R_20145208_ChIP-Seq_DFB_Human	3.36546279
5	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.02958884
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.68146272
7	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.57574183
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.48353769
9	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.46628318
10	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.41955365
11	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.39296423
12	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.34825241
13	TAF15_26573619_Chip-Seq_HEK293_Human	2.26175879
14	ELK1_19687146_ChIP-ChIP_HELA_Human	2.20914972
15	VDR_22108803_ChIP-Seq_LS180_Human	2.18999137
16	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.17139750
17	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.14911465
18	FUS_26573619_Chip-Seq_HEK293_Human	2.12484573
19	EWS_26573619_Chip-Seq_HEK293_Human	2.04376059
20	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.01846074
21	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.99891097
22	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.99452506
23	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.95653644
24	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.91749473
25	VDR_23849224_ChIP-Seq_CD4+_Human	1.91260086
26	P300_19829295_ChIP-Seq_ESCs_Human	1.86179500
27	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.84692400
28	IRF1_19129219_ChIP-ChIP_H3396_Human	1.77070720
29	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.75459645
30	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.74763073
31	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.73777930
32	EZH2_22144423_ChIP-Seq_EOC_Human	1.71068268
33	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.62044277
34	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.57627639
35	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.56770865
36	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.55408259
37	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.54394560
38	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.54052050
39	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.52968140
40	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.52179556
41	FOXP3_21729870_ChIP-Seq_TREG_Human	1.51138989
42	MYC_18940864_ChIP-ChIP_HL60_Human	1.50865918
43	GABP_19822575_ChIP-Seq_HepG2_Human	1.48524403
44	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.47937134
45	CBP_20019798_ChIP-Seq_JUKART_Human	1.44612093
46	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.44612093
47	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.43317889
48	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.39323051
49	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.36532149
50	TP53_22573176_ChIP-Seq_HFKS_Human	1.36001926
51	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.34475212
52	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.34369882
53	DCP1A_22483619_ChIP-Seq_HELA_Human	1.31690571
54	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.29847245
55	RNF2_27304074_Chip-Seq_NSC_Mouse	1.29540569
56	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.29218979
57	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.28596836
58	SMAD4_21799915_ChIP-Seq_A2780_Human	1.26335456
59	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.26039600
60	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.25101917
61	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.24946856
62	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.22796136
63	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.22104497
64	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.18613281
65	ER_23166858_ChIP-Seq_MCF-7_Human	1.17714879
66	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.16586998
67	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.14126597
68	AR_25329375_ChIP-Seq_VCAP_Human	1.14114758
69	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.10843949
70	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.10716553
71	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.10669661
72	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.10114830
73	AR_20517297_ChIP-Seq_VCAP_Human	1.09937470
74	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.07961674
75	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.04593463
76	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.04593463
77	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.03676831
78	NCOR_22424771_ChIP-Seq_293T_Human	1.02759789
79	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.02444518
80	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.01593930
81	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.01427156
82	SOX2_19829295_ChIP-Seq_ESCs_Human	0.99729321
83	NANOG_19829295_ChIP-Seq_ESCs_Human	0.99729321
84	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.99650703
85	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.98963015
86	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.98885449
87	RUNX2_22187159_ChIP-Seq_PCA_Human	0.98478594
88	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.98249879
89	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.97906584
90	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.97185728
91	JUN_21703547_ChIP-Seq_K562_Human	0.96959750
92	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.96231447
93	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.95991749
94	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.95102250
95	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.94642190
96	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.94452839
97	STAT3_23295773_ChIP-Seq_U87_Human	0.92321554
98	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.91854164
99	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.91502479
100	TCF4_22108803_ChIP-Seq_LS180_Human	0.91023581

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001529_abnormal_vocalization	3.25447979
2	MP0008789_abnormal_olfactory_epithelium	3.00146308
3	MP0003787_abnormal_imprinting	2.93420961
4	MP0005394_taste/olfaction_phenotype	2.69509116
5	MP0005499_abnormal_olfactory_system	2.69509116
6	MP0008877_abnormal_DNA_methylation	2.63571033
7	MP0003122_maternal_imprinting	2.61477983
8	MP0001984_abnormal_olfaction	2.58432434
9	MP0002102_abnormal_ear_morphology	2.54783558
10	MP0006072_abnormal_retinal_apoptosis	2.51898905
11	MP0006276_abnormal_autonomic_nervous	2.42276162
12	MP0003880_abnormal_central_pattern	2.40305634
13	MP0003121_genomic_imprinting	2.28670619
14	MP0006292_abnormal_olfactory_placode	2.12285619
15	MP0005253_abnormal_eye_physiology	2.06509072
16	MP0002822_catalepsy	2.06168915
17	MP0005645_abnormal_hypothalamus_physiol	2.02767920
18	MP0002653_abnormal_ependyma_morphology	1.91980025
19	MP0002234_abnormal_pharynx_morphology	1.89462791
20	MP0010386_abnormal_urinary_bladder	1.82589543
21	MP0009046_muscle_twitch	1.76930866
22	MP0005084_abnormal_gallbladder_morpholo	1.76403631
23	MP0003011_delayed_dark_adaptation	1.76345462
24	MP0005551_abnormal_eye_electrophysiolog	1.74124806
25	MP0008058_abnormal_DNA_repair	1.69633426
26	MP0000778_abnormal_nervous_system	1.66672137
27	MP0003195_calcinosis	1.62105108
28	MP0000372_irregular_coat_pigmentation	1.58738394
29	MP0004142_abnormal_muscle_tone	1.57554397
30	MP0002736_abnormal_nociception_after	1.56543820
31	MP0004270_analgesia	1.53618323
32	MP0004147_increased_porphyrin_level	1.52809437
33	MP0001968_abnormal_touch/_nociception	1.49402484
34	MP0002638_abnormal_pupillary_reflex	1.48581516
35	MP0002837_dystrophic_cardiac_calcinosis	1.44945157
36	MP0002272_abnormal_nervous_system	1.44804376
37	MP0000049_abnormal_middle_ear	1.43710179
38	MP0001764_abnormal_homeostasis	1.43648856
39	MP0004133_heterotaxia	1.43403082
40	MP0002751_abnormal_autonomic_nervous	1.37833031
41	MP0002572_abnormal_emotion/affect_behav	1.37700530
42	MP0009697_abnormal_copulation	1.36743838
43	MP0005367_renal/urinary_system_phenotyp	1.36679229
44	MP0000516_abnormal_urinary_system	1.36679229
45	MP0003221_abnormal_cardiomyocyte_apopto	1.36215233
46	MP0001188_hyperpigmentation	1.34632541
47	MP0008995_early_reproductive_senescence	1.32185967
48	MP0001486_abnormal_startle_reflex	1.31521108
49	MP0009745_abnormal_behavioral_response	1.28652928
50	MP0001905_abnormal_dopamine_level	1.24501014
51	MP0000631_abnormal_neuroendocrine_gland	1.24220553
52	MP0002557_abnormal_social/conspecific_i	1.21899034
53	MP0002938_white_spotting	1.15649745
54	MP0003186_abnormal_redox_activity	1.14386844
55	MP0002734_abnormal_mechanical_nocicepti	1.11217872
56	MP0006035_abnormal_mitochondrial_morpho	1.11148231
57	MP0002090_abnormal_vision	1.11001594
58	MP0006036_abnormal_mitochondrial_physio	1.09290827
59	MP0002184_abnormal_innervation	1.09268668
60	MP0002752_abnormal_somatic_nervous	1.08707915
61	MP0005187_abnormal_penis_morphology	1.07588774
62	MP0004859_abnormal_synaptic_plasticity	1.07263492
63	MP0001970_abnormal_pain_threshold	1.06648983
64	MP0003635_abnormal_synaptic_transmissio	1.06644822
65	MP0002233_abnormal_nose_morphology	1.05496868
66	MP0002735_abnormal_chemical_nociception	1.03902246
67	MP0000647_abnormal_sebaceous_gland	1.03689035
68	MP0002063_abnormal_learning/memory/cond	0.98542515
69	MP0005646_abnormal_pituitary_gland	0.98416974
70	MP0005195_abnormal_posterior_eye	0.96611062
71	MP0005248_abnormal_Harderian_gland	0.96252730
72	MP0003567_abnormal_fetal_cardiomyocyte	0.96229597
73	MP0001986_abnormal_taste_sensitivity	0.96106328
74	MP0004811_abnormal_neuron_physiology	0.95258814
75	MP0003718_maternal_effect	0.94366399
76	MP0000026_abnormal_inner_ear	0.93729058
77	MP0002882_abnormal_neuron_morphology	0.93666574
78	MP0005391_vision/eye_phenotype	0.92461292
79	MP0005386_behavior/neurological_phenoty	0.90334201
80	MP0004924_abnormal_behavior	0.90334201
81	MP0002067_abnormal_sensory_capabilities	0.87521788
82	MP0001293_anophthalmia	0.86938320
83	MP0003137_abnormal_impulse_conducting	0.85832884
84	MP0002095_abnormal_skin_pigmentation	0.84835554
85	MP0000955_abnormal_spinal_cord	0.83949684
86	MP0001485_abnormal_pinna_reflex	0.82194518
87	MP0001324_abnormal_eye_pigmentation	0.81314778
88	MP0005332_abnormal_amino_acid	0.80644717
89	MP0008875_abnormal_xenobiotic_pharmacok	0.79414964
90	MP0003937_abnormal_limbs/digits/tail_de	0.79172365
91	MP0004215_abnormal_myocardial_fiber	0.78684287
92	MP0001963_abnormal_hearing_physiology	0.77299315
93	MP0002909_abnormal_adrenal_gland	0.76845403
94	MP0002160_abnormal_reproductive_system	0.76502373
95	MP0003698_abnormal_male_reproductive	0.75030906
96	MP0002876_abnormal_thyroid_physiology	0.74908511
97	MP0002064_seizures	0.74234683
98	MP0002733_abnormal_thermal_nociception	0.73982312
99	MP0002069_abnormal_eating/drinking_beha	0.73852407
100	MP0005423_abnormal_somatic_nervous	0.72704611

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Medial flaring of the eyebrow (HP:0010747)	4.35658625
2	Gait imbalance (HP:0002141)	4.18674313
3	Congenital primary aphakia (HP:0007707)	4.16061384
4	Nephrogenic diabetes insipidus (HP:0009806)	3.92676788
5	True hermaphroditism (HP:0010459)	3.54621234
6	Acute necrotizing encephalopathy (HP:0006965)	3.43971976
7	Hyperglycinemia (HP:0002154)	3.37765774
8	Acute encephalopathy (HP:0006846)	3.26080807
9	Abnormal mitochondria in muscle tissue (HP:0008316)	3.18596955
10	Abnormality of midbrain morphology (HP:0002418)	3.15311026
11	Molar tooth sign on MRI (HP:0002419)	3.15311026
12	Pancreatic fibrosis (HP:0100732)	3.09376454
13	Pancreatic cysts (HP:0001737)	3.06199010
14	Genital tract atresia (HP:0001827)	2.99463795
15	Mitochondrial inheritance (HP:0001427)	2.98970150
16	Vaginal atresia (HP:0000148)	2.97189185
17	Progressive macrocephaly (HP:0004481)	2.94276278
18	Failure to thrive in infancy (HP:0001531)	2.91261228
19	Hepatocellular necrosis (HP:0001404)	2.82219775
20	Increased CSF lactate (HP:0002490)	2.79436836
21	Polyphagia (HP:0002591)	2.74080650
22	Abnormality of the labia minora (HP:0012880)	2.72368048
23	Poor coordination (HP:0002370)	2.61602064
24	Retinal dysplasia (HP:0007973)	2.60286784
25	Hepatic necrosis (HP:0002605)	2.57548821
26	Nephronophthisis (HP:0000090)	2.57405501
27	Increased serum pyruvate (HP:0003542)	2.55481110
28	Specific learning disability (HP:0001328)	2.48204390
29	Cerebral edema (HP:0002181)	2.45222354
30	Neonatal respiratory distress (HP:0002643)	2.44049278
31	Postaxial hand polydactyly (HP:0001162)	2.37300393
32	Broad foot (HP:0001769)	2.36545011
33	Decreased testicular size (HP:0008734)	2.30866622
34	Abnormality of glycolysis (HP:0004366)	2.30562555
35	Abnormality of serine family amino acid metabolism (HP:0010894)	2.28013185
36	Abnormality of glycine metabolism (HP:0010895)	2.28013185
37	Type I transferrin isoform profile (HP:0003642)	2.27180507
38	Methylmalonic acidemia (HP:0002912)	2.26099453
39	Occipital encephalocele (HP:0002085)	2.25940944
40	Abnormality of the metopic suture (HP:0005556)	2.25279597
41	3-Methylglutaconic aciduria (HP:0003535)	2.24266062
42	Abnormal protein glycosylation (HP:0012346)	2.23083767
43	Abnormal glycosylation (HP:0012345)	2.23083767
44	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.23083767
45	Abnormal protein N-linked glycosylation (HP:0012347)	2.23083767
46	Poor suck (HP:0002033)	2.22409471
47	Type 2 muscle fiber atrophy (HP:0003554)	2.18011205
48	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.17353723
49	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.17227555
50	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.17227555
51	Increased serum lactate (HP:0002151)	2.16840066
52	Intestinal atresia (HP:0011100)	2.16370687
53	Renal Fanconi syndrome (HP:0001994)	2.15584083
54	Lactic acidosis (HP:0003128)	2.13860746
55	Short tibia (HP:0005736)	2.12844997
56	Lissencephaly (HP:0001339)	2.12702455
57	Postaxial foot polydactyly (HP:0001830)	2.10749413
58	Increased hepatocellular lipid droplets (HP:0006565)	2.09737206
59	Abnormality of serum amino acid levels (HP:0003112)	2.08163269
60	Lipid accumulation in hepatocytes (HP:0006561)	2.07388836
61	Methylmalonic aciduria (HP:0012120)	2.06221226
62	Abnormality of alanine metabolism (HP:0010916)	2.05091110
63	Hyperalaninemia (HP:0003348)	2.05091110
64	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.05091110
65	Hyperglycinuria (HP:0003108)	2.04016786
66	Abnormality of the renal medulla (HP:0100957)	2.01448937
67	Optic disc pallor (HP:0000543)	2.01305969
68	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.00396096
69	Drooling (HP:0002307)	1.99859224
70	Aplasia/Hypoplasia of the lens (HP:0008063)	1.99197771
71	Sclerocornea (HP:0000647)	1.98281933
72	Chronic hepatic failure (HP:0100626)	1.97705472
73	Degeneration of anterior horn cells (HP:0002398)	1.96535044
74	Abnormality of the anterior horn cell (HP:0006802)	1.96535044
75	Cortical dysplasia (HP:0002539)	1.95829732
76	Abolished electroretinogram (ERG) (HP:0000550)	1.95371953
77	Tubulointerstitial nephritis (HP:0001970)	1.90414086
78	Hypothermia (HP:0002045)	1.86847745
79	Aganglionic megacolon (HP:0002251)	1.86194088
80	Narrow forehead (HP:0000341)	1.86141839
81	Atrophy/Degeneration involving motor neurons (HP:0007373)	1.86003766
82	Prominent metopic ridge (HP:0005487)	1.85170886
83	Adrenal hypoplasia (HP:0000835)	1.84513113
84	Colon cancer (HP:0003003)	1.82158929
85	Male pseudohermaphroditism (HP:0000037)	1.81059723
86	Absent speech (HP:0001344)	1.78944498
87	CNS demyelination (HP:0007305)	1.78511887
88	Left ventricular hypertrophy (HP:0001712)	1.77920059
89	Lethargy (HP:0001254)	1.77231525
90	Hypoplastic pelvis (HP:0008839)	1.77024798
91	Hemiparesis (HP:0001269)	1.76595008
92	Respiratory failure (HP:0002878)	1.76303376
93	Postnatal microcephaly (HP:0005484)	1.76284864
94	Excessive salivation (HP:0003781)	1.75624646
95	Agitation (HP:0000713)	1.75131288
96	Astigmatism (HP:0000483)	1.75035505
97	Congenital hepatic fibrosis (HP:0002612)	1.74522315
98	Abnormal biliary tract physiology (HP:0012439)	1.73968622
99	Bile duct proliferation (HP:0001408)	1.73968622
100	Exercise intolerance (HP:0003546)	1.73202085

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	3.75481028
2	BCR	3.74661910
3	TRIM28	3.10826384
4	MAP2K7	3.00384586
5	MAP3K4	2.83880219
6	BCKDK	2.83243855
7	WNK3	2.79411555
8	CASK	2.30539297
9	EPHA3	2.16639220
10	SRPK1	2.13631573
11	CSNK1G3	2.05010637
12	ERBB3	1.97744378
13	MAPK13	1.97272840
14	STK16	1.96684950
15	CDK19	1.95422448
16	DYRK2	1.90721743
17	CSNK1G2	1.89198349
18	CSNK1A1L	1.82903239
19	NUAK1	1.79436382
20	FRK	1.74915440
21	CSNK1G1	1.74370155
22	MARK1	1.71168468
23	PINK1	1.60037548
24	BMPR1B	1.51059621
25	MST4	1.45528764
26	TIE1	1.34375759
27	NEK1	1.31238362
28	LIMK1	1.30667731
29	MINK1	1.30598771
30	PLK2	1.29601414
31	SIK3	1.24462418
32	FLT3	1.21921215
33	EIF2AK3	1.20860544
34	MAP3K12	1.20183742
35	GRK1	1.18471721
36	PAK3	1.13659872
37	DYRK3	1.12923696
38	ZAK	1.07524502
39	RPS6KA4	1.04390832
40	MKNK1	1.01648885
41	ADRBK2	1.00652600
42	PRKCE	0.95217375
43	FER	0.93277417
44	STK38L	0.89854891
45	PIM2	0.88776883
46	PLK4	0.84986239
47	PBK	0.79569073
48	INSRR	0.79553435
49	OXSR1	0.79063424
50	VRK1	0.77708888
51	UHMK1	0.74829743
52	MAP2K4	0.74651706
53	PRKCG	0.73346719
54	TESK1	0.71290752
55	VRK2	0.70433903
56	PLK3	0.69856703
57	NTRK2	0.68013642
58	DYRK1B	0.66957231
59	MUSK	0.64824584
60	STK39	0.64347936
61	BUB1	0.62434589
62	PLK1	0.62355168
63	MAP3K5	0.58440389
64	CSNK1A1	0.57569368
65	EIF2AK1	0.54648660
66	PDK2	0.54172870
67	CAMKK2	0.53664804
68	PKN1	0.53642968
69	CAMK2A	0.53297590
70	WNK4	0.51714057
71	CDK14	0.51013856
72	EPHA4	0.48882875
73	TSSK6	0.48152780
74	CCNB1	0.47838535
75	TAOK3	0.45903674
76	PAK6	0.45673224
77	RPS6KA5	0.45429678
78	DYRK1A	0.43233842
79	MKNK2	0.41373556
80	PRKACA	0.39816323
81	EPHB2	0.35265969
82	WEE1	0.34832145
83	CDK5	0.34604456
84	DAPK1	0.34295942
85	CDK18	0.33351030
86	TNIK	0.32941360
87	CAMK2D	0.32925187
88	MAP3K6	0.32262098
89	PHKG2	0.32051151
90	PHKG1	0.32051151
91	PRKACB	0.31547095
92	NME1	0.31367656
93	CSNK2A1	0.30427556
94	CAMK2B	0.30028142
95	BRSK2	0.29731084
96	CAMK2G	0.28837618
97	CDK8	0.26453897
98	ATR	0.25544690
99	CDK11A	0.25476499
100	MAPKAPK5	0.24605748

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Protein export_Homo sapiens_hsa03060	3.77429007
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.46034347
3	Oxidative phosphorylation_Homo sapiens_hsa00190	2.88827770
4	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.66300917
5	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.62883869
6	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.61261768
7	Parkinsons disease_Homo sapiens_hsa05012	2.49866246
8	Propanoate metabolism_Homo sapiens_hsa00640	2.36392964
9	Steroid biosynthesis_Homo sapiens_hsa00100	2.29252901
10	Butanoate metabolism_Homo sapiens_hsa00650	2.25171435
11	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.15336662
12	Proteasome_Homo sapiens_hsa03050	2.09434670
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.04766330
14	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	2.04714844
15	Fatty acid elongation_Homo sapiens_hsa00062	1.96494892
16	Basal transcription factors_Homo sapiens_hsa03022	1.82319925
17	RNA polymerase_Homo sapiens_hsa03020	1.70458963
18	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.66897384
19	Huntingtons disease_Homo sapiens_hsa05016	1.65985281
20	Phototransduction_Homo sapiens_hsa04744	1.58865647
21	Collecting duct acid secretion_Homo sapiens_hsa04966	1.58358104
22	Nicotine addiction_Homo sapiens_hsa05033	1.57881207
23	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.50551889
24	Peroxisome_Homo sapiens_hsa04146	1.49239707
25	Alzheimers disease_Homo sapiens_hsa05010	1.41261464
26	Regulation of autophagy_Homo sapiens_hsa04140	1.38557417
27	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.36100501
28	Fanconi anemia pathway_Homo sapiens_hsa03460	1.35074084
29	RNA degradation_Homo sapiens_hsa03018	1.24904248
30	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.20915466
31	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.20153661
32	Folate biosynthesis_Homo sapiens_hsa00790	1.17455676
33	Base excision repair_Homo sapiens_hsa03410	1.15177982
34	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.13430210
35	GABAergic synapse_Homo sapiens_hsa04727	1.11322222
36	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.11036703
37	Homologous recombination_Homo sapiens_hsa03440	1.10177772
38	Pyruvate metabolism_Homo sapiens_hsa00620	1.08946407
39	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.02114418
40	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.00773572
41	Carbon metabolism_Homo sapiens_hsa01200	0.99200192
42	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.99040635
43	Non-homologous end-joining_Homo sapiens_hsa03450	0.98002554
44	Fatty acid metabolism_Homo sapiens_hsa01212	0.97389926
45	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.97305483
46	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.97176378
47	Cardiac muscle contraction_Homo sapiens_hsa04260	0.97148055
48	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.96916272
49	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.94669145
50	Metabolic pathways_Homo sapiens_hsa01100	0.90922287
51	Vibrio cholerae infection_Homo sapiens_hsa05110	0.89472272
52	Sulfur metabolism_Homo sapiens_hsa00920	0.89092136
53	beta-Alanine metabolism_Homo sapiens_hsa00410	0.88308904
54	Pyrimidine metabolism_Homo sapiens_hsa00240	0.86255250
55	Glutathione metabolism_Homo sapiens_hsa00480	0.86241911
56	Arginine and proline metabolism_Homo sapiens_hsa00330	0.83729946
57	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.82600055
58	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.82242134
59	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.82024000
60	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.81094862
61	RNA transport_Homo sapiens_hsa03013	0.77872199
62	Nitrogen metabolism_Homo sapiens_hsa00910	0.77495797
63	Sulfur relay system_Homo sapiens_hsa04122	0.75982554
64	Nucleotide excision repair_Homo sapiens_hsa03420	0.73355519
65	Taste transduction_Homo sapiens_hsa04742	0.72684779
66	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.72175754
67	Purine metabolism_Homo sapiens_hsa00230	0.71497142
68	Linoleic acid metabolism_Homo sapiens_hsa00591	0.70470389
69	Mismatch repair_Homo sapiens_hsa03430	0.68245563
70	Spliceosome_Homo sapiens_hsa03040	0.68029112
71	Fatty acid degradation_Homo sapiens_hsa00071	0.66955939
72	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.65463895
73	Morphine addiction_Homo sapiens_hsa05032	0.64757436
74	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.62771167
75	Ether lipid metabolism_Homo sapiens_hsa00565	0.62646948
76	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.60565710
77	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.60505923
78	Tryptophan metabolism_Homo sapiens_hsa00380	0.60007259
79	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.57625449
80	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.57428828
81	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.57330317
82	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.56588290
83	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.55509035
84	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.55074331
85	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.53761998
86	Retinol metabolism_Homo sapiens_hsa00830	0.52154714
87	Chemical carcinogenesis_Homo sapiens_hsa05204	0.50873670
88	Dopaminergic synapse_Homo sapiens_hsa04728	0.49829106
89	Olfactory transduction_Homo sapiens_hsa04740	0.49669573
90	Selenocompound metabolism_Homo sapiens_hsa00450	0.49610915
91	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.47599354
92	Circadian entrainment_Homo sapiens_hsa04713	0.47581627
93	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.46677976
94	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.45887667
95	Circadian rhythm_Homo sapiens_hsa04710	0.42969774
96	One carbon pool by folate_Homo sapiens_hsa00670	0.41562257
97	Glutamatergic synapse_Homo sapiens_hsa04724	0.39682858
98	Caffeine metabolism_Homo sapiens_hsa00232	0.39219670
99	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.37729394
100	Oocyte meiosis_Homo sapiens_hsa04114	0.36949990

PSPHP1

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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