ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	viral transcription (GO:0019083)	7.29540113
2	translational termination (GO:0006415)	7.01750580
3	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	5.85896633
4	cotranslational protein targeting to membrane (GO:0006613)	5.83446403
5	protein targeting to ER (GO:0045047)	5.72934545
6	translational elongation (GO:0006414)	5.60263384
7	establishment of protein localization to endoplasmic reticulum (GO:0072599)	5.47724103
8	cellular protein complex disassembly (GO:0043624)	5.35695995
9	protein localization to endoplasmic reticulum (GO:0070972)	5.18819209
10	viral life cycle (GO:0019058)	5.11240805
11	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	4.84898079
12	ribosomal small subunit biogenesis (GO:0042274)	4.74249782
13	protein complex disassembly (GO:0043241)	4.72328471
14	axon ensheathment in central nervous system (GO:0032291)	4.70692335
15	central nervous system myelination (GO:0022010)	4.70692335
16	ribosomal small subunit assembly (GO:0000028)	4.65771485
17	behavioral response to nicotine (GO:0035095)	4.55242145
18	macromolecular complex disassembly (GO:0032984)	4.39562756
19	translational initiation (GO:0006413)	4.38927259
20	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.36224437
21	ATP synthesis coupled proton transport (GO:0015986)	4.14239869
22	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.14239869
23	negative regulation of oligodendrocyte differentiation (GO:0048715)	4.01732324
24	sequestering of actin monomers (GO:0042989)	3.99171965
25	positive regulation of gastrulation (GO:2000543)	3.94266380
26	neuron fate specification (GO:0048665)	3.93278417
27	forebrain neuron differentiation (GO:0021879)	3.92097869
28	short-term memory (GO:0007614)	3.75662062
29	protein targeting to membrane (GO:0006612)	3.74959684
30	lateral sprouting from an epithelium (GO:0060601)	3.66721326
31	signal peptide processing (GO:0006465)	3.64312780
32	regulation of cilium movement (GO:0003352)	3.57651856
33	maturation of SSU-rRNA (GO:0030490)	3.57511267
34	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.57211547
35	neurofilament cytoskeleton organization (GO:0060052)	3.55327258
36	respiratory electron transport chain (GO:0022904)	3.50044171
37	electron transport chain (GO:0022900)	3.49228511
38	primitive streak formation (GO:0090009)	3.34841281
39	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.28622567
40	limb development (GO:0060173)	3.26902914
41	appendage development (GO:0048736)	3.26902914
42	peristalsis (GO:0030432)	3.25942040
43	otic vesicle formation (GO:0030916)	3.23680705
44	cardiac right ventricle morphogenesis (GO:0003215)	3.21640696
45	auditory behavior (GO:0031223)	3.20724680
46	nuclear-transcribed mRNA catabolic process (GO:0000956)	3.16676219
47	hindbrain development (GO:0030902)	3.13617901
48	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.12711665
49	epithelial cilium movement (GO:0003351)	3.11031359
50	mRNA catabolic process (GO:0006402)	3.07439869
51	axonemal dynein complex assembly (GO:0070286)	3.05480804
52	artery smooth muscle contraction (GO:0014824)	3.03657984
53	ribosomal large subunit biogenesis (GO:0042273)	3.01217666
54	phasic smooth muscle contraction (GO:0014821)	2.94464686
55	translation (GO:0006412)	2.91154479
56	neuronal stem cell maintenance (GO:0097150)	2.90143845
57	postsynaptic membrane organization (GO:0001941)	2.88852740
58	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.88052448
59	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.87338348
60	negative regulation of catecholamine secretion (GO:0033604)	2.85747214
61	tongue development (GO:0043586)	2.85715959
62	exploration behavior (GO:0035640)	2.85487241
63	behavioral response to cocaine (GO:0048148)	2.83201551
64	glomerulus development (GO:0032835)	2.80572666
65	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	2.79762911
66	substrate-independent telencephalic tangential migration (GO:0021826)	2.79762911
67	protein complex biogenesis (GO:0070271)	2.79742181
68	nonmotile primary cilium assembly (GO:0035058)	2.77111989
69	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.76338968
70	aldehyde catabolic process (GO:0046185)	2.75596779
71	regulation of microtubule-based movement (GO:0060632)	2.75587318
72	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.75284813
73	intra-S DNA damage checkpoint (GO:0031573)	2.74320499
74	dopaminergic neuron differentiation (GO:0071542)	2.72808760
75	negative regulation of astrocyte differentiation (GO:0048712)	2.72393623
76	gamma-aminobutyric acid transport (GO:0015812)	2.71491621
77	midbrain development (GO:0030901)	2.70808925
78	RNA catabolic process (GO:0006401)	2.68282846
79	sulfation (GO:0051923)	2.65911750
80	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	2.65760756
81	left/right pattern formation (GO:0060972)	2.65637688
82	neuromuscular process controlling posture (GO:0050884)	2.64413078
83	neuron fate determination (GO:0048664)	2.63644114
84	neuron projection extension involved in neuron projection guidance (GO:1902284)	2.62757484
85	axon extension involved in axon guidance (GO:0048846)	2.62757484
86	positive regulation of neuroblast proliferation (GO:0002052)	2.62541403
87	regulation of uterine smooth muscle contraction (GO:0070472)	2.58155505
88	motile cilium assembly (GO:0044458)	2.57399580
89	neuron maturation (GO:0042551)	2.57178250
90	mechanosensory behavior (GO:0007638)	2.57167389
91	mitochondrial respiratory chain complex assembly (GO:0033108)	2.56886298
92	establishment of protein localization to membrane (GO:0090150)	2.56712167
93	nephron tubule morphogenesis (GO:0072078)	2.56331234
94	nephron epithelium morphogenesis (GO:0072088)	2.56331234
95	presynaptic membrane organization (GO:0097090)	2.55021828
96	ganglion development (GO:0061548)	2.54690771
97	protein-cofactor linkage (GO:0018065)	2.54272753
98	pattern specification involved in kidney development (GO:0061004)	2.54066994
99	behavioral response to ethanol (GO:0048149)	2.53285167
100	response to inactivity (GO:0014854)	2.52767594

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	6.52434914
2	RBPJ_22232070_ChIP-Seq_NCS_Mouse	3.97276441
3	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.58141005
4	CBX2_27304074_Chip-Seq_ESCs_Mouse	3.29724818
5	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.79049783
6	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.66431598
7	VDR_22108803_ChIP-Seq_LS180_Human	2.62160472
8	TP63_19390658_ChIP-ChIP_HaCaT_Human	2.50422601
9	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.49707666
10	FUS_26573619_Chip-Seq_HEK293_Human	2.38037247
11	POU5F1_16153702_ChIP-ChIP_HESCs_Human	2.26765266
12	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.23776895
13	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.23352568
14	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.21528138
15	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.18386779
16	RNF2_27304074_Chip-Seq_NSC_Mouse	2.14909439
17	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	2.13702098
18	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.13485559
19	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.11859449
20	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.09542375
21	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.03704783
22	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.94455748
23	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.92515814
24	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.91970083
25	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.90163237
26	REST_21632747_ChIP-Seq_MESCs_Mouse	1.86399094
27	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.79095141
28	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.72407703
29	EWS_26573619_Chip-Seq_HEK293_Human	1.71501284
30	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.69970032
31	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.69829653
32	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.69829653
33	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.68098065
34	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.66822796
35	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.66822796
36	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.65985328
37	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.64203634
38	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.63802222
39	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.62289805
40	ZNF274_21170338_ChIP-Seq_K562_Hela	1.61781010
41	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.61569692
42	P300_19829295_ChIP-Seq_ESCs_Human	1.55429292
43	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.52491237
44	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.51514312
45	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.47174950
46	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.43991789
47	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.42825633
48	GBX2_23144817_ChIP-Seq_PC3_Human	1.42699233
49	TAF15_26573619_Chip-Seq_HEK293_Human	1.42679164
50	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.42390103
51	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.39910582
52	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.39910582
53	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.39910582
54	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.32260782
55	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.27430527
56	AR_21572438_ChIP-Seq_LNCaP_Human	1.25653008
57	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.22859483
58	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.21721902
59	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.20000791
60	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.17533897
61	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.16494085
62	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.15339640
63	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.14552174
64	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.14378006
65	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.13044345
66	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.12740672
67	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.10757194
68	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.09654938
69	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.07994057
70	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.07473588
71	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.05754558
72	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	1.05239407
73	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.05038752
74	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.03785948
75	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.03764502
76	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.03060855
77	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.02325191
78	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.02037975
79	AR_25329375_ChIP-Seq_VCAP_Human	1.01565683
80	IGF1R_20145208_ChIP-Seq_DFB_Human	1.00843325
81	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.00748764
82	RING1B_27294783_Chip-Seq_NPCs_Mouse	0.98795504
83	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.97187736
84	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.95283250
85	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.93382667
86	RXR_22108803_ChIP-Seq_LS180_Human	0.93008828
87	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.92298215
88	GATA1_26923725_Chip-Seq_HPCs_Mouse	0.92147419
89	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.90197419
90	POU3F2_20337985_ChIP-ChIP_501MEL_Human	0.89117045
91	STAT3_18555785_ChIP-Seq_MESCs_Mouse	0.88864572
92	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.86430195
93	JUN_21703547_ChIP-Seq_K562_Human	0.85737538
94	RUNX2_22187159_ChIP-Seq_PCA_Human	0.84803048
95	SMAD4_21799915_ChIP-Seq_A2780_Human	0.84112494
96	BCAT_22108803_ChIP-Seq_LS180_Human	0.84035857
97	MYC_18940864_ChIP-ChIP_HL60_Human	0.83704870
98	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.82915246
99	P53_22387025_ChIP-Seq_ESCs_Mouse	0.82053798
100	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.81160423

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009379_abnormal_foot_pigmentation	4.90455057
2	MP0003136_yellow_coat_color	4.83008422
3	MP0002822_catalepsy	4.19374311
4	MP0006292_abnormal_olfactory_placode	4.16744367
5	MP0002653_abnormal_ependyma_morphology	3.12145220
6	MP0001485_abnormal_pinna_reflex	2.60654013
7	MP0005423_abnormal_somatic_nervous	2.58396608
8	MP0003011_delayed_dark_adaptation	2.56988369
9	MP0001293_anophthalmia	2.37210475
10	MP0001529_abnormal_vocalization	2.35564409
11	MP0005646_abnormal_pituitary_gland	2.31908941
12	MP0002909_abnormal_adrenal_gland	2.27624409
13	MP0000566_synostosis	2.23215059
14	MP0002277_abnormal_respiratory_mucosa	2.18651692
15	MP0004885_abnormal_endolymph	2.08078651
16	MP0000631_abnormal_neuroendocrine_gland	2.02752550
17	MP0008789_abnormal_olfactory_epithelium	1.87685879
18	MP0002272_abnormal_nervous_system	1.83511209
19	MP0004145_abnormal_muscle_electrophysio	1.80913802
20	MP0005499_abnormal_olfactory_system	1.74928046
21	MP0005394_taste/olfaction_phenotype	1.74928046
22	MP0002638_abnormal_pupillary_reflex	1.71963829
23	MP0002938_white_spotting	1.69836475
24	MP0004742_abnormal_vestibular_system	1.60106272
25	MP0003567_abnormal_fetal_cardiomyocyte	1.59555349
26	MP0003938_abnormal_ear_development	1.58765235
27	MP0000049_abnormal_middle_ear	1.58400366
28	MP0010030_abnormal_orbit_morphology	1.56201004
29	MP0009745_abnormal_behavioral_response	1.52417468
30	MP0003880_abnormal_central_pattern	1.51582140
31	MP0004133_heterotaxia	1.46781760
32	MP0000778_abnormal_nervous_system	1.45199454
33	MP0002184_abnormal_innervation	1.43162372
34	MP0003890_abnormal_embryonic-extraembry	1.43149622
35	MP0001188_hyperpigmentation	1.42209438
36	MP0002064_seizures	1.41861984
37	MP0001286_abnormal_eye_development	1.40095507
38	MP0002234_abnormal_pharynx_morphology	1.40082271
39	MP0002557_abnormal_social/conspecific_i	1.39926221
40	MP0009053_abnormal_anal_canal	1.38614438
41	MP0001486_abnormal_startle_reflex	1.38149952
42	MP0005084_abnormal_gallbladder_morpholo	1.37437580
43	MP0000026_abnormal_inner_ear	1.35910048
44	MP0004142_abnormal_muscle_tone	1.35607370
45	MP0002572_abnormal_emotion/affect_behav	1.34088481
46	MP0003878_abnormal_ear_physiology	1.32595515
47	MP0005377_hearing/vestibular/ear_phenot	1.32595515
48	MP0001346_abnormal_lacrimal_gland	1.31861856
49	MP0003122_maternal_imprinting	1.26340069
50	MP0002928_abnormal_bile_duct	1.25772864
51	MP0001984_abnormal_olfaction	1.22726617
52	MP0005551_abnormal_eye_electrophysiolog	1.21375833
53	MP0001905_abnormal_dopamine_level	1.20426947
54	MP0002282_abnormal_trachea_morphology	1.20214869
55	MP0002697_abnormal_eye_size	1.14256809
56	MP0003635_abnormal_synaptic_transmissio	1.13871662
57	MP0002752_abnormal_somatic_nervous	1.08166901
58	MP0008877_abnormal_DNA_methylation	1.05582489
59	MP0001324_abnormal_eye_pigmentation	1.01471134
60	MP0005391_vision/eye_phenotype	1.00806459
61	MP0002751_abnormal_autonomic_nervous	0.98663977
62	MP0002882_abnormal_neuron_morphology	0.98474805
63	MP0005171_absent_coat_pigmentation	0.98158030
64	MP0003861_abnormal_nervous_system	0.96551689
65	MP0005386_behavior/neurological_phenoty	0.95887672
66	MP0004924_abnormal_behavior	0.95887672
67	MP0002092_abnormal_eye_morphology	0.95399893
68	MP0002733_abnormal_thermal_nociception	0.95121147
69	MP0003942_abnormal_urinary_system	0.94484307
70	MP0002233_abnormal_nose_morphology	0.94444542
71	MP0008995_early_reproductive_senescence	0.94052859
72	MP0006276_abnormal_autonomic_nervous	0.93780488
73	MP0009384_cardiac_valve_regurgitation	0.92362480
74	MP0000955_abnormal_spinal_cord	0.92072450
75	MP0001879_abnormal_lymphatic_vessel	0.90082956
76	MP0002152_abnormal_brain_morphology	0.89178000
77	MP0002160_abnormal_reproductive_system	0.87534687
78	MP0002735_abnormal_chemical_nociception	0.87026915
79	MP0002063_abnormal_learning/memory/cond	0.85773432
80	MP0005174_abnormal_tail_pigmentation	0.85763337
81	MP0003937_abnormal_limbs/digits/tail_de	0.85004863
82	MP0001970_abnormal_pain_threshold	0.83871815
83	MP0001963_abnormal_hearing_physiology	0.83679014
84	MP0002102_abnormal_ear_morphology	0.81237633
85	MP0005248_abnormal_Harderian_gland	0.76221398
86	MP0000569_abnormal_digit_pigmentation	0.75541235
87	MP0003755_abnormal_palate_morphology	0.74897486
88	MP0000230_abnormal_systemic_arterial	0.74301057
89	MP0005253_abnormal_eye_physiology	0.74129743
90	MP0006072_abnormal_retinal_apoptosis	0.73859489
91	MP0001919_abnormal_reproductive_system	0.71509880
92	MP0005195_abnormal_posterior_eye	0.70075915
93	MP0002067_abnormal_sensory_capabilities	0.69976805
94	MP0000534_abnormal_ureter_morphology	0.69722394
95	MP0003195_calcinosis	0.68837344
96	MP0009046_muscle_twitch	0.66204919
97	MP0000579_abnormal_nail_morphology	0.66175874
98	MP0000372_irregular_coat_pigmentation	0.65651033
99	MP0000647_abnormal_sebaceous_gland	0.65554946
100	MP0002249_abnormal_larynx_morphology	0.64452801

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Septo-optic dysplasia (HP:0100842)	5.94489846
2	Reticulocytopenia (HP:0001896)	5.48327855
3	Abnormality of cells of the erythroid lineage (HP:0012130)	4.04120829
4	Absent septum pellucidum (HP:0001331)	3.79449293
5	Abnormal number of erythroid precursors (HP:0012131)	3.77089048
6	Absent/shortened dynein arms (HP:0200106)	3.74678631
7	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.74678631
8	Macrocytic anemia (HP:0001972)	3.73096352
9	Abnormal respiratory epithelium morphology (HP:0012253)	3.22773647
10	Abnormal respiratory motile cilium morphology (HP:0005938)	3.22773647
11	Anophthalmia (HP:0000528)	3.19901130
12	Atonic seizures (HP:0010819)	3.17582692
13	Hypothermia (HP:0002045)	3.15406835
14	Pallor (HP:0000980)	3.14163539
15	Optic nerve hypoplasia (HP:0000609)	3.13604870
16	Maternal diabetes (HP:0009800)	3.06055685
17	Abnormality of the septum pellucidum (HP:0007375)	3.04248445
18	Duplicated collecting system (HP:0000081)	2.95384854
19	Focal motor seizures (HP:0011153)	2.89371549
20	Limb dystonia (HP:0002451)	2.89105824
21	Congenital, generalized hypertrichosis (HP:0004540)	2.88134924
22	Partial duplication of thumb phalanx (HP:0009944)	2.87433826
23	Oligodactyly (hands) (HP:0001180)	2.82417396
24	Acute necrotizing encephalopathy (HP:0006965)	2.79450375
25	Increased hepatocellular lipid droplets (HP:0006565)	2.76297609
26	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.75728266
27	Rib fusion (HP:0000902)	2.75659356
28	Progressive cerebellar ataxia (HP:0002073)	2.71574688
29	Abnormality of the renal collecting system (HP:0004742)	2.69080504
30	Abnormal ciliary motility (HP:0012262)	2.68819372
31	Duplication of thumb phalanx (HP:0009942)	2.65681772
32	Esophageal atresia (HP:0002032)	2.60667213
33	Morphological abnormality of the inner ear (HP:0011390)	2.59473247
34	Pancreatic fibrosis (HP:0100732)	2.56934523
35	Renal Fanconi syndrome (HP:0001994)	2.52339842
36	Abnormality of the labia minora (HP:0012880)	2.51580962
37	Abnormal mitochondria in muscle tissue (HP:0008316)	2.48584513
38	Mitochondrial inheritance (HP:0001427)	2.47848704
39	Optic disc pallor (HP:0000543)	2.47660533
40	Abnormal respiratory motile cilium physiology (HP:0012261)	2.47332279
41	3-Methylglutaconic aciduria (HP:0003535)	2.40957718
42	Dialeptic seizures (HP:0011146)	2.39491259
43	Supernumerary spleens (HP:0009799)	2.39119928
44	Partial duplication of the phalanx of hand (HP:0009999)	2.38941584
45	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.36086319
46	Molar tooth sign on MRI (HP:0002419)	2.33733116
47	Abnormality of midbrain morphology (HP:0002418)	2.33733116
48	Congenital stationary night blindness (HP:0007642)	2.33553632
49	Progressive macrocephaly (HP:0004481)	2.32747890
50	Absence seizures (HP:0002121)	2.30788605
51	Pancreatic cysts (HP:0001737)	2.29082664
52	Myokymia (HP:0002411)	2.28305505
53	Chromsome breakage (HP:0040012)	2.24649978
54	Gastrointestinal atresia (HP:0002589)	2.22329279
55	Bony spicule pigmentary retinopathy (HP:0007737)	2.21911824
56	Triphalangeal thumb (HP:0001199)	2.20925183
57	Morphological abnormality of the middle ear (HP:0008609)	2.19093926
58	Lipid accumulation in hepatocytes (HP:0006561)	2.16577885
59	Sclerocornea (HP:0000647)	2.15465500
60	Pheochromocytoma (HP:0002666)	2.15407228
61	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.09327216
62	Focal seizures (HP:0007359)	2.09119361
63	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.08949634
64	Renal hypoplasia (HP:0000089)	2.08940098
65	Absent thumb (HP:0009777)	2.07116369
66	True hermaphroditism (HP:0010459)	2.06855591
67	Aplasia/Hypoplasia of the sacrum (HP:0008517)	2.05221546
68	Meckel diverticulum (HP:0002245)	2.05221441
69	Neuroendocrine neoplasm (HP:0100634)	2.04560302
70	Acute encephalopathy (HP:0006846)	2.04530011
71	Medial flaring of the eyebrow (HP:0010747)	2.03630977
72	Broad metatarsal (HP:0001783)	2.02854497
73	Oligodactyly (HP:0012165)	2.00190966
74	Intestinal atresia (HP:0011100)	1.99923441
75	Exertional dyspnea (HP:0002875)	1.97926768
76	Midline defect of the nose (HP:0004122)	1.96319622
77	Aqueductal stenosis (HP:0002410)	1.95860135
78	Absent radius (HP:0003974)	1.94225350
79	Aplasia involving forearm bones (HP:0009822)	1.94055478
80	Absent forearm bone (HP:0003953)	1.94055478
81	Hemivertebrae (HP:0002937)	1.93761608
82	Nephronophthisis (HP:0000090)	1.90416950
83	Rectal fistula (HP:0100590)	1.90365624
84	Rectovaginal fistula (HP:0000143)	1.90365624
85	Growth hormone deficiency (HP:0000824)	1.89554230
86	Increased CSF lactate (HP:0002490)	1.88718480
87	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.87714059
88	Glycosuria (HP:0003076)	1.86972638
89	Abnormality of urine glucose concentration (HP:0011016)	1.86972638
90	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.86388789
91	Preaxial foot polydactyly (HP:0001841)	1.84886588
92	Abnormality of the ileum (HP:0001549)	1.84424308
93	Severe Myopia (HP:0011003)	1.84229709
94	Gait imbalance (HP:0002141)	1.83559607
95	Attenuation of retinal blood vessels (HP:0007843)	1.83224500
96	Genital tract atresia (HP:0001827)	1.82494375
97	Patellar aplasia (HP:0006443)	1.81620326
98	Abnormality of the renal medulla (HP:0100957)	1.79508199
99	Vaginal atresia (HP:0000148)	1.79200263
100	Abolished electroretinogram (ERG) (HP:0000550)	1.79153967

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PNCK	3.85888788
2	TAOK3	3.58426846
3	MAPK15	3.35807209
4	CAMKK2	3.28997877
5	WNK3	2.89261454
6	TLK1	2.79965904
7	VRK1	2.66774023
8	TRIM28	2.63513720
9	CASK	2.57282154
10	TNIK	2.54423192
11	WNK4	2.43334270
12	STK39	2.40706794
13	DYRK2	2.31697956
14	PASK	2.29950766
15	DAPK2	2.17125554
16	CAMKK1	1.92391062
17	MAP3K10	1.86844907
18	EPHB2	1.77386233
19	MAPK13	1.77246760
20	ZAK	1.75986023
21	IRAK2	1.66820254
22	IRAK4	1.55415527
23	MARK1	1.52271251
24	VRK2	1.49512270
25	DYRK3	1.43958799
26	DYRK1B	1.39813058
27	PDK2	1.33519210
28	GRK1	1.29744815
29	NTRK2	1.24995060
30	STK16	1.22373369
31	TAF1	1.19459765
32	MAP4K2	1.17537007
33	NME1	1.16648002
34	RPS6KA5	1.14109834
35	WEE1	1.13070399
36	INSRR	1.11525825
37	MKNK2	1.11185050
38	NUAK1	1.09723852
39	ADRBK1	1.09057278
40	OXSR1	1.07738317
41	ADRBK2	1.03475835
42	TYRO3	0.99008339
43	MKNK1	0.97157105
44	TGFBR1	0.96239213
45	MAP2K7	0.91890227
46	CDK8	0.91270309
47	PLK3	0.85799377
48	PAK3	0.85642326
49	CAMK1	0.85312526
50	PRKCG	0.79619830
51	LRRK2	0.78454726
52	MAP3K4	0.77183263
53	PLK4	0.72794683
54	MAP2K4	0.72633263
55	WNK1	0.72021983
56	CHEK2	0.65483585
57	PRKCQ	0.63347354
58	BMPR1B	0.62966443
59	IRAK1	0.61891723
60	PKN1	0.59566100
61	PIK3CA	0.58359501
62	CDC7	0.57805590
63	DYRK1A	0.56660589
64	MINK1	0.54176476
65	MARK3	0.51508155
66	DAPK3	0.50737793
67	TIE1	0.50514331
68	PRKG1	0.49230645
69	PRKACA	0.48980158
70	PHKG2	0.48877409
71	PHKG1	0.48877409
72	STK11	0.48687123
73	FRK	0.47212761
74	MELK	0.45820974
75	EPHA4	0.45784162
76	CCNB1	0.45259391
77	PINK1	0.45251270
78	OBSCN	0.43140943
79	CAMK2A	0.42598032
80	CSNK1E	0.37366364
81	IKBKE	0.37099307
82	PRKCE	0.36879295
83	NLK	0.36564340
84	FGFR1	0.35723097
85	BRSK2	0.34264523
86	AURKB	0.34023331
87	PRKCZ	0.33089185
88	CDK3	0.32834307
89	NEK1	0.32586888
90	TSSK6	0.32262167
91	CSNK2A2	0.31105782
92	CDK5	0.31047533
93	CAMK4	0.30923100
94	GRK5	0.30716707
95	PRKCD	0.30295948
96	RPS6KA6	0.28981690
97	SGK1	0.27940341
98	KIT	0.27612791
99	SGK494	0.26937260
100	SGK223	0.26937260

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	6.48607263
2	Oxidative phosphorylation_Homo sapiens_hsa00190	4.24618379
3	Protein export_Homo sapiens_hsa03060	3.89425846
4	Parkinsons disease_Homo sapiens_hsa05012	3.88320021
5	Cardiac muscle contraction_Homo sapiens_hsa04260	2.87748923
6	Huntingtons disease_Homo sapiens_hsa05016	2.63854872
7	RNA polymerase_Homo sapiens_hsa03020	2.44620125
8	Alzheimers disease_Homo sapiens_hsa05010	2.33006602
9	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.15799708
10	Fanconi anemia pathway_Homo sapiens_hsa03460	2.03667167
11	Nicotine addiction_Homo sapiens_hsa05033	1.88781608
12	Phototransduction_Homo sapiens_hsa04744	1.76029223
13	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.71017214
14	Basal cell carcinoma_Homo sapiens_hsa05217	1.62371694
15	Homologous recombination_Homo sapiens_hsa03440	1.60133622
16	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.57880991
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.51550077
18	Cocaine addiction_Homo sapiens_hsa05030	1.46706193
19	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	1.46458248
20	Folate biosynthesis_Homo sapiens_hsa00790	1.31203268
21	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.27617876
22	Linoleic acid metabolism_Homo sapiens_hsa00591	1.22991182
23	Taste transduction_Homo sapiens_hsa04742	1.21427987
24	Olfactory transduction_Homo sapiens_hsa04740	1.18442401
25	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.18327140
26	Tryptophan metabolism_Homo sapiens_hsa00380	1.15977582
27	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.13900392
28	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.11470509
29	GABAergic synapse_Homo sapiens_hsa04727	1.11050844
30	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.07717167
31	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.07155061
32	Spliceosome_Homo sapiens_hsa03040	1.03364749
33	Axon guidance_Homo sapiens_hsa04360	1.02789456
34	Morphine addiction_Homo sapiens_hsa05032	1.00821775
35	Retinol metabolism_Homo sapiens_hsa00830	0.99692124
36	Regulation of autophagy_Homo sapiens_hsa04140	0.99351141
37	Chemical carcinogenesis_Homo sapiens_hsa05204	0.98890192
38	Basal transcription factors_Homo sapiens_hsa03022	0.96450941
39	Proteasome_Homo sapiens_hsa03050	0.96446200
40	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.89941878
41	Sulfur relay system_Homo sapiens_hsa04122	0.89759907
42	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.88538534
43	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.87530680
44	Amphetamine addiction_Homo sapiens_hsa05031	0.86779950
45	Alcoholism_Homo sapiens_hsa05034	0.86612223
46	Calcium signaling pathway_Homo sapiens_hsa04020	0.86311642
47	Serotonergic synapse_Homo sapiens_hsa04726	0.84987868
48	Nitrogen metabolism_Homo sapiens_hsa00910	0.82692291
49	RNA degradation_Homo sapiens_hsa03018	0.81925948
50	Glutamatergic synapse_Homo sapiens_hsa04724	0.81850486
51	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.80751491
52	Purine metabolism_Homo sapiens_hsa00230	0.80107761
53	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.79559669
54	Tyrosine metabolism_Homo sapiens_hsa00350	0.78427140
55	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.75202764
56	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.73171901
57	Fat digestion and absorption_Homo sapiens_hsa04975	0.67948357
58	Caffeine metabolism_Homo sapiens_hsa00232	0.66537921
59	Steroid biosynthesis_Homo sapiens_hsa00100	0.64917614
60	Insulin secretion_Homo sapiens_hsa04911	0.64700160
61	Circadian entrainment_Homo sapiens_hsa04713	0.63980888
62	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.63849016
63	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.63020774
64	Pyrimidine metabolism_Homo sapiens_hsa00240	0.61666093
65	cAMP signaling pathway_Homo sapiens_hsa04024	0.59761291
66	Dopaminergic synapse_Homo sapiens_hsa04728	0.57800045
67	Phenylalanine metabolism_Homo sapiens_hsa00360	0.53662295
68	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.51468896
69	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.50668252
70	Glycerolipid metabolism_Homo sapiens_hsa00561	0.50288505
71	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.48725730
72	Ether lipid metabolism_Homo sapiens_hsa00565	0.47648351
73	Histidine metabolism_Homo sapiens_hsa00340	0.45051081
74	Asthma_Homo sapiens_hsa05310	0.44008172
75	Mismatch repair_Homo sapiens_hsa03430	0.43041574
76	Gap junction_Homo sapiens_hsa04540	0.40883697
77	Bile secretion_Homo sapiens_hsa04976	0.40669205
78	Hippo signaling pathway_Homo sapiens_hsa04390	0.40343526
79	Melanogenesis_Homo sapiens_hsa04916	0.37688783
80	Wnt signaling pathway_Homo sapiens_hsa04310	0.36924810
81	Butanoate metabolism_Homo sapiens_hsa00650	0.35249307
82	Salivary secretion_Homo sapiens_hsa04970	0.35150149
83	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.34702743
84	Metabolic pathways_Homo sapiens_hsa01100	0.33907827
85	Cholinergic synapse_Homo sapiens_hsa04725	0.33259177
86	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.30687134
87	Collecting duct acid secretion_Homo sapiens_hsa04966	0.29843589
88	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.29230868
89	Tight junction_Homo sapiens_hsa04530	0.27706346
90	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.27073056
91	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.26700097
92	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.26305167
93	Renin secretion_Homo sapiens_hsa04924	0.26168395
94	Mineral absorption_Homo sapiens_hsa04978	0.24959140
95	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.23366955
96	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.23019324
97	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.22879672
98	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.22791586
99	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.19938268
100	Pathways in cancer_Homo sapiens_hsa05200	0.19230514

PCMTD1P2

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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