ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	presynaptic membrane assembly (GO:0097105)	4.97846728
2	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	4.72244977
3	regulation of NFAT protein import into nucleus (GO:0051532)	4.40668701
4	postsynaptic membrane organization (GO:0001941)	4.30689286
5	limb bud formation (GO:0060174)	4.22354868
6	positive regulation of catecholamine secretion (GO:0033605)	4.16948630
7	presynaptic membrane organization (GO:0097090)	4.15953057
8	coenzyme catabolic process (GO:0009109)	4.15886143
9	pyrimidine nucleobase catabolic process (GO:0006208)	4.12630165
10	neuron cell-cell adhesion (GO:0007158)	3.72925004
11	acrosome reaction (GO:0007340)	3.57529469
12	glycosphingolipid biosynthetic process (GO:0006688)	3.53170941
13	mesenchymal-epithelial cell signaling (GO:0060638)	3.52050232
14	central nervous system projection neuron axonogenesis (GO:0021952)	3.50958394
15	activation of protein kinase B activity (GO:0032148)	3.50206292
16	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	3.47339185
17	cytoplasmic mRNA processing body assembly (GO:0033962)	3.46557471
18	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	3.45424296
19	positive regulation of action potential (GO:0045760)	3.43457098
20	epithelial cilium movement (GO:0003351)	3.39712377
21	DNA double-strand break processing (GO:0000729)	3.29196553
22	regulation of autophagic vacuole assembly (GO:2000785)	3.28646193
23	intraciliary transport (GO:0042073)	3.27462427
24	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	3.23469123
25	nucleobase catabolic process (GO:0046113)	3.23298291
26	behavioral response to nicotine (GO:0035095)	3.12970136
27	dendritic spine morphogenesis (GO:0060997)	3.12224515
28	central nervous system neuron axonogenesis (GO:0021955)	3.06966329
29	axonal fasciculation (GO:0007413)	3.05994789
30	otic vesicle formation (GO:0030916)	3.02688412
31	protein localization to cell surface (GO:0034394)	3.01214579
32	oligosaccharide biosynthetic process (GO:0009312)	2.98266519
33	neuron fate determination (GO:0048664)	2.98031891
34	motile cilium assembly (GO:0044458)	2.97322587
35	negative regulation of DNA binding (GO:0043392)	2.95008879
36	neuron projection extension involved in neuron projection guidance (GO:1902284)	2.93157073
37	axon extension involved in axon guidance (GO:0048846)	2.93157073
38	toxin metabolic process (GO:0009404)	2.92831488
39	multicellular organism reproduction (GO:0032504)	2.92092030
40	synapse assembly (GO:0007416)	2.90497199
41	regulation of keratinocyte proliferation (GO:0010837)	2.89634904
42	response to auditory stimulus (GO:0010996)	2.87767075
43	cilium movement (GO:0003341)	2.87377078
44	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.87080512
45	neuron recognition (GO:0008038)	2.86633562
46	atrial cardiac muscle cell action potential (GO:0086014)	2.85240971
47	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.84824529
48	regulation of action potential (GO:0098900)	2.82467019
49	mRNA cleavage (GO:0006379)	2.81228989
50	neuromuscular synaptic transmission (GO:0007274)	2.80310227
51	cellular response to zinc ion (GO:0071294)	2.79279997
52	cranial nerve morphogenesis (GO:0021602)	2.79140131
53	retinal ganglion cell axon guidance (GO:0031290)	2.77845088
54	ADP metabolic process (GO:0046031)	2.77483280
55	neurofilament cytoskeleton organization (GO:0060052)	2.75604629
56	regulation of respiratory gaseous exchange by neurological system process (GO:0002087)	2.75552355
57	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	2.75399214
58	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.74628895
59	regulation of phosphoprotein phosphatase activity (GO:0043666)	2.71816910
60	auditory behavior (GO:0031223)	2.70566239
61	kidney morphogenesis (GO:0060993)	2.70102532
62	regulation of vacuole organization (GO:0044088)	2.69619542
63	axonemal dynein complex assembly (GO:0070286)	2.69479761
64	cell migration in hindbrain (GO:0021535)	2.67941140
65	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.67317904
66	gamma-aminobutyric acid transport (GO:0015812)	2.62106258
67	negative regulation of dendrite development (GO:2000171)	2.61823714
68	positive regulation of amine transport (GO:0051954)	2.61480311
69	urinary tract smooth muscle contraction (GO:0014848)	2.61289271
70	dendrite development (GO:0016358)	2.60477125
71	spinal cord motor neuron differentiation (GO:0021522)	2.60318780
72	regulation of phospholipase A2 activity (GO:0032429)	2.60264697
73	DNA integration (GO:0015074)	2.59686781
74	cilium morphogenesis (GO:0060271)	2.57775421
75	neurotransmitter-gated ion channel clustering (GO:0072578)	2.56427754
76	negative regulation of striated muscle cell apoptotic process (GO:0010664)	2.55131731
77	acrosome assembly (GO:0001675)	2.53096617
78	muscle fiber development (GO:0048747)	2.51327619
79	microtubule severing (GO:0051013)	2.50116699
80	negative regulation of Rho protein signal transduction (GO:0035024)	2.45742835
81	regulation of acrosome reaction (GO:0060046)	2.45728358
82	vocalization behavior (GO:0071625)	2.44413357
83	adult heart development (GO:0007512)	2.43285388
84	receptor recycling (GO:0001881)	2.43084566
85	cornea development in camera-type eye (GO:0061303)	2.42655235
86	tryptophan catabolic process (GO:0006569)	2.42032314
87	indole-containing compound catabolic process (GO:0042436)	2.42032314
88	indolalkylamine catabolic process (GO:0046218)	2.42032314
89	sperm motility (GO:0030317)	2.41809357
90	cGMP-mediated signaling (GO:0019934)	2.41009432
91	sialylation (GO:0097503)	2.40832858
92	regulation of dopamine secretion (GO:0014059)	2.39991377
93	protein localization to cilium (GO:0061512)	2.37982942
94	neural tube formation (GO:0001841)	2.35803448
95	positive regulation of excitatory postsynaptic membrane potential (GO:2000463)	2.35629478
96	regulation of cell maturation (GO:1903429)	2.35053901
97	protein localization to synapse (GO:0035418)	2.35016712
98	protein polyglutamylation (GO:0018095)	2.34217266
99	lateral sprouting from an epithelium (GO:0060601)	2.33830879
100	positive regulation of synapse assembly (GO:0051965)	2.31204578

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	5.28674975
2	GBX2_23144817_ChIP-Seq_PC3_Human	4.35936709
3	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	4.35344179
4	EZH2_22144423_ChIP-Seq_EOC_Human	4.20786557
5	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.92654992
6	IGF1R_20145208_ChIP-Seq_DFB_Human	3.64758910
7	ZNF274_21170338_ChIP-Seq_K562_Hela	2.76145551
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.48273951
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.42728207
10	FUS_26573619_Chip-Seq_HEK293_Human	2.31386566
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.22658591
12	P300_19829295_ChIP-Seq_ESCs_Human	2.16639473
13	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.16403258
14	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.07181318
15	AR_21572438_ChIP-Seq_LNCaP_Human	2.05730041
16	VDR_22108803_ChIP-Seq_LS180_Human	2.05201304
17	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.91656445
18	SMAD4_21799915_ChIP-Seq_A2780_Human	1.89704132
19	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.84661829
20	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.80453123
21	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.80317696
22	TAF15_26573619_Chip-Seq_HEK293_Human	1.78771653
23	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.73505845
24	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.72390571
25	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.72390571
26	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.69106768
27	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.65963723
28	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.64633200
29	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.60749124
30	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.60512567
31	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.57861288
32	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.56911152
33	EWS_26573619_Chip-Seq_HEK293_Human	1.55048107
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.54733556
35	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.54716138
36	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.52089557
37	CBP_20019798_ChIP-Seq_JUKART_Human	1.47807018
38	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.47807018
39	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.47621146
40	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.47014928
41	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.46212056
42	ER_23166858_ChIP-Seq_MCF-7_Human	1.45254237
43	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.44873688
44	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.44496015
45	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.41006385
46	RUNX2_22187159_ChIP-Seq_PCA_Human	1.40902033
47	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.39394511
48	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.38760254
49	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.38760254
50	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.38722504
51	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.38148367
52	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.38028404
53	AR_25329375_ChIP-Seq_VCAP_Human	1.35740825
54	RXR_22108803_ChIP-Seq_LS180_Human	1.32089714
55	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.31443358
56	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.31177202
57	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.29992417
58	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.29399707
59	STAT3_23295773_ChIP-Seq_U87_Human	1.28077229
60	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.27845752
61	RNF2_27304074_Chip-Seq_NSC_Mouse	1.27059794
62	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.25723089
63	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.23903455
64	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.23022891
65	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.21911424
66	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.21543860
67	AHR_22903824_ChIP-Seq_MCF-7_Human	1.20545503
68	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.20081071
69	REST_21632747_ChIP-Seq_MESCs_Mouse	1.19033277
70	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.17516229
71	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.17397529
72	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.17177739
73	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.16834534
74	DROSHA_22980978_ChIP-Seq_HELA_Human	1.15445754
75	TCF4_23295773_ChIP-Seq_U87_Human	1.15202489
76	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.14902781
77	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.11283474
78	TP53_18474530_ChIP-ChIP_U2OS_Human	1.11228089
79	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.10155727
80	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.09058398
81	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.08630785
82	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.08399050
83	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.07668817
84	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.07106886
85	BCAT_22108803_ChIP-Seq_LS180_Human	1.06547032
86	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.05091165
87	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.03854250
88	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.03047734
89	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.01486846
90	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.00577371
91	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.00309978
92	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	0.99143552
93	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.98969419
94	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	0.95595440
95	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.93878493
96	KDM2B_26808549_Chip-Seq_REH_Human	0.92831796
97	TBL1_22424771_ChIP-Seq_293T_Human	0.92562899
98	JUN_21703547_ChIP-Seq_K562_Human	0.91070820
99	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.90143538
100	AR_19668381_ChIP-Seq_PC3_Human	0.88721242

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001529_abnormal_vocalization	3.81655296
2	MP0003880_abnormal_central_pattern	3.07384699
3	MP0002102_abnormal_ear_morphology	2.66471744
4	MP0006072_abnormal_retinal_apoptosis	2.62403282
5	MP0001984_abnormal_olfaction	2.58831262
6	MP0002735_abnormal_chemical_nociception	2.28463596
7	MP0000778_abnormal_nervous_system	2.19416150
8	MP0005253_abnormal_eye_physiology	2.14989849
9	MP0005499_abnormal_olfactory_system	2.07458302
10	MP0005394_taste/olfaction_phenotype	2.07458302
11	MP0006276_abnormal_autonomic_nervous	2.07072570
12	MP0002822_catalepsy	2.02659685
13	MP0005248_abnormal_Harderian_gland	1.96442671
14	MP0000569_abnormal_digit_pigmentation	1.89895479
15	MP0003315_abnormal_perineum_morphology	1.86573772
16	MP0002233_abnormal_nose_morphology	1.80022484
17	MP0003635_abnormal_synaptic_transmissio	1.78711113
18	MP0004924_abnormal_behavior	1.72188153
19	MP0005386_behavior/neurological_phenoty	1.72188153
20	MP0009780_abnormal_chondrocyte_physiolo	1.66510388
21	MP0009250_abnormal_appendicular_skeleto	1.66318767
22	MP0003136_yellow_coat_color	1.65699161
23	MP0003122_maternal_imprinting	1.65263429
24	MP0004859_abnormal_synaptic_plasticity	1.57930305
25	MP0002751_abnormal_autonomic_nervous	1.53200907
26	MP0002127_abnormal_cardiovascular_syste	1.51311556
27	MP0002184_abnormal_innervation	1.50898618
28	MP0002572_abnormal_emotion/affect_behav	1.47866934
29	MP0003755_abnormal_palate_morphology	1.46070542
30	MP0009046_muscle_twitch	1.45053689
31	MP0002160_abnormal_reproductive_system	1.44614798
32	MP0002132_abnormal_respiratory_system	1.43845473
33	MP0008789_abnormal_olfactory_epithelium	1.41241747
34	MP0000566_synostosis	1.41044134
35	MP0008004_abnormal_stomach_pH	1.40232795
36	MP0002063_abnormal_learning/memory/cond	1.39980880
37	MP0000537_abnormal_urethra_morphology	1.39793989
38	MP0001968_abnormal_touch/_nociception	1.38130335
39	MP0004270_analgesia	1.37409882
40	MP0002837_dystrophic_cardiac_calcinosis	1.36846308
41	MP0000955_abnormal_spinal_cord	1.35931385
42	MP0004272_abnormal_basement_membrane	1.35630246
43	MP0000049_abnormal_middle_ear	1.35551418
44	MP0005187_abnormal_penis_morphology	1.31868125
45	MP0003935_abnormal_craniofacial_develop	1.30851980
46	MP0003385_abnormal_body_wall	1.28901463
47	MP0003787_abnormal_imprinting	1.27266394
48	MP0002752_abnormal_somatic_nervous	1.26075827
49	MP0005410_abnormal_fertilization	1.25952018
50	MP0003938_abnormal_ear_development	1.25139370
51	MP0002638_abnormal_pupillary_reflex	1.24454634
52	MP0004084_abnormal_cardiac_muscle	1.23811782
53	MP0003121_genomic_imprinting	1.23792407
54	MP0003890_abnormal_embryonic-extraembry	1.23788878
55	MP0009745_abnormal_behavioral_response	1.21750507
56	MP0004811_abnormal_neuron_physiology	1.18724991
57	MP0002295_abnormal_pulmonary_circulatio	1.16931883
58	MP0002272_abnormal_nervous_system	1.14904654
59	MP0002108_abnormal_muscle_morphology	1.14225587
60	MP0002557_abnormal_social/conspecific_i	1.14125358
61	MP0000749_muscle_degeneration	1.13984834
62	MP0003937_abnormal_limbs/digits/tail_de	1.13428969
63	MP0010386_abnormal_urinary_bladder	1.13227801
64	MP0001486_abnormal_startle_reflex	1.12902383
65	MP0005646_abnormal_pituitary_gland	1.12547872
66	MP0005391_vision/eye_phenotype	1.11766764
67	MP0001905_abnormal_dopamine_level	1.11736821
68	MP0000026_abnormal_inner_ear	1.11482814
69	MP0002882_abnormal_neuron_morphology	1.08849694
70	MP0003698_abnormal_male_reproductive	1.08340270
71	MP0001270_distended_abdomen	1.07117874
72	MP0002064_seizures	1.06344042
73	MP0005551_abnormal_eye_electrophysiolog	1.05141663
74	MP0004215_abnormal_myocardial_fiber	1.01057915
75	MP0003221_abnormal_cardiomyocyte_apopto	1.00191754
76	MP0005503_abnormal_tendon_morphology	0.96453283
77	MP0004085_abnormal_heartbeat	0.95916401
78	MP0002734_abnormal_mechanical_nocicepti	0.95880759
79	MP0001188_hyperpigmentation	0.95078887
80	MP0001970_abnormal_pain_threshold	0.94780888
81	MP0010368_abnormal_lymphatic_system	0.94406281
82	MP0002067_abnormal_sensory_capabilities	0.93792199
83	MP0002254_reproductive_system_inflammat	0.92738165
84	MP0003119_abnormal_digestive_system	0.92153265
85	MP0000631_abnormal_neuroendocrine_gland	0.91605621
86	MP0001299_abnormal_eye_distance/	0.88476132
87	MP0002282_abnormal_trachea_morphology	0.84859615
88	MP0008877_abnormal_DNA_methylation	0.84052009
89	MP0003861_abnormal_nervous_system	0.83081526
90	MP0002115_abnormal_skeleton_extremities	0.82769461
91	MP0001929_abnormal_gametogenesis	0.82013039
92	MP0004133_heterotaxia	0.81218618
93	MP0002152_abnormal_brain_morphology	0.78866528
94	MP0005423_abnormal_somatic_nervous	0.76697159
95	MP0003137_abnormal_impulse_conducting	0.76544407
96	MP0002109_abnormal_limb_morphology	0.76295097
97	MP0005195_abnormal_posterior_eye	0.75626427
98	MP0004885_abnormal_endolymph	0.75081251
99	MP0003632_abnormal_nervous_system	0.74930021
100	MP0001502_abnormal_circadian_rhythm	0.74030855

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Inability to walk (HP:0002540)	3.71536172
2	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	3.65694309
3	True hermaphroditism (HP:0010459)	3.27531427
4	Urinary urgency (HP:0000012)	3.26635858
5	Abnormality of the columella (HP:0009929)	3.17684987
6	High anterior hairline (HP:0009890)	2.98471450
7	Aplasia involving bones of the upper limbs (HP:0009823)	2.94004057
8	Aplasia of the phalanges of the hand (HP:0009802)	2.94004057
9	Aplasia involving bones of the extremities (HP:0009825)	2.94004057
10	Pancreatic fibrosis (HP:0100732)	2.87361942
11	Retinal dysplasia (HP:0007973)	2.85748867
12	Abnormality of the frontal sinuses (HP:0002687)	2.85436118
13	Pachygyria (HP:0001302)	2.83645924
14	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	2.79502031
15	Hypothermia (HP:0002045)	2.78780035
16	Hypoplastic ischia (HP:0003175)	2.77730717
17	Lissencephaly (HP:0001339)	2.77419588
18	Vitreoretinal degeneration (HP:0000655)	2.75936808
19	Volvulus (HP:0002580)	2.73050568
20	Cerebellar dysplasia (HP:0007033)	2.72354359
21	Molar tooth sign on MRI (HP:0002419)	2.64230081
22	Abnormality of midbrain morphology (HP:0002418)	2.64230081
23	Abnormality of the ischium (HP:0003174)	2.63124248
24	Aplasia/Hypoplasia of the brainstem (HP:0007362)	2.62549574
25	Hypoplasia of the brainstem (HP:0002365)	2.62549574
26	Limb dystonia (HP:0002451)	2.57759554
27	Long clavicles (HP:0000890)	2.57578434
28	Type II lissencephaly (HP:0007260)	2.52360177
29	Median cleft lip (HP:0000161)	2.49073594
30	Pancreatic cysts (HP:0001737)	2.48333812
31	Abnormal ciliary motility (HP:0012262)	2.48052112
32	Absent speech (HP:0001344)	2.41205687
33	Broad-based gait (HP:0002136)	2.37675735
34	Short tibia (HP:0005736)	2.36926475
35	Postaxial foot polydactyly (HP:0001830)	2.25136449
36	Occipital encephalocele (HP:0002085)	2.24371758
37	Cupped ear (HP:0000378)	2.23609513
38	Drooling (HP:0002307)	2.23124424
39	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.20358106
40	Delayed gross motor development (HP:0002194)	2.18242645
41	Male pseudohermaphroditism (HP:0000037)	2.16949285
42	Abnormal respiratory motile cilium morphology (HP:0005938)	2.15621441
43	Abnormal respiratory epithelium morphology (HP:0012253)	2.15621441
44	Abnormality of the labia minora (HP:0012880)	2.14224316
45	Abnormal respiratory motile cilium physiology (HP:0012261)	2.14215321
46	Proximal amyotrophy (HP:0007126)	2.11303596
47	Renal dysplasia (HP:0000110)	2.09847789
48	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.09688138
49	Abnormality of the calf musculature (HP:0001430)	2.08754443
50	Thyroid-stimulating hormone excess (HP:0002925)	2.07940712
51	Atonic seizures (HP:0010819)	2.05265764
52	Postaxial hand polydactyly (HP:0001162)	2.02075696
53	Choroideremia (HP:0001139)	2.00061384
54	Cystic liver disease (HP:0006706)	1.99826181
55	Resting tremor (HP:0002322)	1.99310486
56	Excessive salivation (HP:0003781)	1.98486362
57	Calf muscle hypertrophy (HP:0008981)	1.98062061
58	Abnormality of the shoulder girdle musculature (HP:0001435)	1.97705936
59	Hyperventilation (HP:0002883)	1.97227205
60	Small hand (HP:0200055)	1.96922775
61	Barrel-shaped chest (HP:0001552)	1.96383360
62	Hypoventilation (HP:0002791)	1.95530596
63	Alacrima (HP:0000522)	1.91725662
64	Decreased lacrimation (HP:0000633)	1.91674573
65	Preaxial hand polydactyly (HP:0001177)	1.89638691
66	Nephronophthisis (HP:0000090)	1.85281043
67	Absent/shortened dynein arms (HP:0200106)	1.84323283
68	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.84323283
69	Anencephaly (HP:0002323)	1.82431293
70	Sclerocornea (HP:0000647)	1.82106893
71	Hyperglycinemia (HP:0002154)	1.81445811
72	Focal motor seizures (HP:0011153)	1.81220563
73	Cortical dysplasia (HP:0002539)	1.80735245
74	Recurrent corneal erosions (HP:0000495)	1.80673999
75	Abnormality of the corticospinal tract (HP:0002492)	1.80177647
76	Mild short stature (HP:0003502)	1.76507706
77	Bifid scrotum (HP:0000048)	1.74700325
78	Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)	1.74612992
79	Short 4th metacarpal (HP:0010044)	1.74612992
80	Ventricular fibrillation (HP:0001663)	1.74348226
81	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.73032097
82	Neoplasm of the adrenal cortex (HP:0100641)	1.71438288
83	Abnormality of salivation (HP:0100755)	1.71409091
84	Pancreatic islet-cell hyperplasia (HP:0004510)	1.70538271
85	Hemiparesis (HP:0001269)	1.69798552
86	Ulnar claw (HP:0001178)	1.68996108
87	Chronic hepatic failure (HP:0100626)	1.67355301
88	Abnormality of the incisor (HP:0000676)	1.67134289
89	Optic nerve hypoplasia (HP:0000609)	1.66340738
90	Polyphagia (HP:0002591)	1.65681510
91	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	1.65559512
92	Muscle hypertrophy of the lower extremities (HP:0008968)	1.65392790
93	Aqueductal stenosis (HP:0002410)	1.65044633
94	Abnormality of the pubic bones (HP:0003172)	1.63478257
95	Protruding tongue (HP:0010808)	1.62759632
96	Anterior segment dysgenesis (HP:0007700)	1.62228580
97	Hepatoblastoma (HP:0002884)	1.60128667
98	Facial hemangioma (HP:0000329)	1.60101609
99	Amyotrophic lateral sclerosis (HP:0007354)	1.59906767
100	Hypoplasia of the uterus (HP:0000013)	1.58800184

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	5.06339936
2	MARK1	4.57341989
3	PNCK	4.00424054
4	MAP3K9	3.38170594
5	MAP2K7	3.27013800
6	CASK	2.84320134
7	LATS1	2.52112697
8	EPHA3	2.29491730
9	MAP3K10	2.20510980
10	TAF1	2.02863437
11	NEK2	1.99488436
12	MARK3	1.98681919
13	EPHA4	1.97521180
14	MAPK13	1.84350425
15	SGK494	1.82177245
16	SGK223	1.82177245
17	MYLK	1.79693773
18	STK38L	1.77450275
19	FRK	1.77433202
20	DYRK3	1.67430573
21	CSNK1G1	1.61594570
22	CSNK1A1L	1.60508202
23	SGK2	1.56720081
24	WNK3	1.51756185
25	CAMK1G	1.50357020
26	DYRK2	1.47621886
27	CSNK1G3	1.46526646
28	OBSCN	1.45242438
29	MAP4K2	1.44787296
30	MAP3K4	1.44311482
31	CSNK1G2	1.36613255
32	CDK3	1.30629149
33	CLK1	1.27625764
34	MAPK15	1.23115570
35	ZAK	1.22495535
36	ERBB3	1.21658315
37	FGFR2	1.18947230
38	BMPR1B	1.07914562
39	TRIM28	0.99085979
40	MINK1	0.98535211
41	NTRK2	0.97470672
42	ARAF	0.90937390
43	ADRBK2	0.89978558
44	LATS2	0.87617092
45	INSRR	0.85792050
46	TNIK	0.82992549
47	BCR	0.82057931
48	DDR2	0.80990280
49	NUAK1	0.80014932
50	RPS6KA4	0.79575228
51	CAMK1	0.78928211
52	GRK1	0.78759561
53	RPS6KA2	0.73675070
54	PKN1	0.68807467
55	SGK3	0.66977967
56	VRK1	0.66256322
57	LIMK1	0.66133567
58	GRK5	0.63458284
59	RPS6KB1	0.62046625
60	PLK4	0.59474651
61	MAPKAPK5	0.58443125
62	CDK14	0.57127965
63	PRKCG	0.56756896
64	CDC42BPA	0.55053848
65	TLK1	0.51441239
66	PAK3	0.51353134
67	CCNB1	0.49955371
68	CDK5	0.48633879
69	ROCK1	0.47331845
70	RPS6KA5	0.44648606
71	SRPK1	0.42569417
72	CAMK4	0.42130689
73	DYRK1A	0.41591760
74	TIE1	0.38689319
75	PRKCE	0.37675439
76	NEK9	0.35457747
77	WEE1	0.35262635
78	ATM	0.33121596
79	EIF2AK3	0.33034473
80	RPS6KA6	0.32887955
81	MOS	0.31739358
82	DAPK3	0.31337598
83	CSNK1A1	0.31305518
84	EPHB2	0.31172187
85	CDK18	0.31149733
86	AURKA	0.30407490
87	AKT3	0.30176355
88	BCKDK	0.29820622
89	KSR1	0.29598900
90	RPS6KC1	0.29423271
91	RPS6KL1	0.29423271
92	CDK15	0.28813311
93	NEK1	0.27547181
94	CAMK2B	0.27424346
95	NLK	0.27343040
96	CSNK1D	0.27334243
97	UHMK1	0.27232714
98	PRKG1	0.27025792
99	PAK1	0.26261674
100	STK38	0.26236992

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.80211935
2	Olfactory transduction_Homo sapiens_hsa04740	2.50953856
3	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.47546750
4	Butanoate metabolism_Homo sapiens_hsa00650	2.46395759
5	GABAergic synapse_Homo sapiens_hsa04727	2.26998405
6	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.25650287
7	Hedgehog signaling pathway_Homo sapiens_hsa04340	2.15838509
8	Taste transduction_Homo sapiens_hsa04742	2.13703341
9	Gap junction_Homo sapiens_hsa04540	2.10325840
10	Nicotine addiction_Homo sapiens_hsa05033	1.91421428
11	Circadian entrainment_Homo sapiens_hsa04713	1.87239076
12	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.80065794
13	Axon guidance_Homo sapiens_hsa04360	1.69180611
14	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.65094986
15	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.63274490
16	Nitrogen metabolism_Homo sapiens_hsa00910	1.60849035
17	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.60604234
18	Morphine addiction_Homo sapiens_hsa05032	1.58039613
19	Chemical carcinogenesis_Homo sapiens_hsa05204	1.55743133
20	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.54213202
21	Basal transcription factors_Homo sapiens_hsa03022	1.48940702
22	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.46233958
23	Basal cell carcinoma_Homo sapiens_hsa05217	1.44292148
24	Phototransduction_Homo sapiens_hsa04744	1.41171525
25	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.40651833
26	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.36667385
27	Dopaminergic synapse_Homo sapiens_hsa04728	1.33500885
28	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.27130378
29	Salivary secretion_Homo sapiens_hsa04970	1.26789850
30	Propanoate metabolism_Homo sapiens_hsa00640	1.25843870
31	Glutamatergic synapse_Homo sapiens_hsa04724	1.23544585
32	Circadian rhythm_Homo sapiens_hsa04710	1.22310520
33	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.21902906
34	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.19636056
35	Fanconi anemia pathway_Homo sapiens_hsa03460	1.17076469
36	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.16628209
37	Cocaine addiction_Homo sapiens_hsa05030	1.15262962
38	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.13131898
39	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.12401895
40	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.12117277
41	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.11313649
42	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.08262108
43	Calcium signaling pathway_Homo sapiens_hsa04020	1.07297145
44	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.07066638
45	Arginine biosynthesis_Homo sapiens_hsa00220	1.06344409
46	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.05013332
47	Alcoholism_Homo sapiens_hsa05034	1.04223377
48	Insulin secretion_Homo sapiens_hsa04911	1.04172353
49	Selenocompound metabolism_Homo sapiens_hsa00450	1.03645813
50	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.02123494
51	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.01987265
52	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.01729834
53	Melanogenesis_Homo sapiens_hsa04916	1.00966736
54	Wnt signaling pathway_Homo sapiens_hsa04310	1.00844682
55	Steroid biosynthesis_Homo sapiens_hsa00100	0.99311249
56	Oocyte meiosis_Homo sapiens_hsa04114	0.98616160
57	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.97853182
58	Melanoma_Homo sapiens_hsa05218	0.96390417
59	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.95105124
60	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.91666918
61	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.88805710
62	Renin secretion_Homo sapiens_hsa04924	0.88744160
63	Cholinergic synapse_Homo sapiens_hsa04725	0.86909441
64	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.86105522
65	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.84231717
66	beta-Alanine metabolism_Homo sapiens_hsa00410	0.84129088
67	Hippo signaling pathway_Homo sapiens_hsa04390	0.83659512
68	Amphetamine addiction_Homo sapiens_hsa05031	0.83260723
69	Histidine metabolism_Homo sapiens_hsa00340	0.80186598
70	Gastric acid secretion_Homo sapiens_hsa04971	0.78226957
71	Tyrosine metabolism_Homo sapiens_hsa00350	0.74833855
72	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.72400051
73	Phenylalanine metabolism_Homo sapiens_hsa00360	0.69739634
74	RNA degradation_Homo sapiens_hsa03018	0.68306544
75	cAMP signaling pathway_Homo sapiens_hsa04024	0.68024612
76	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.66301645
77	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.64516138
78	Tryptophan metabolism_Homo sapiens_hsa00380	0.62212457
79	Regulation of autophagy_Homo sapiens_hsa04140	0.61917978
80	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.61384864
81	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.61336909
82	Retinol metabolism_Homo sapiens_hsa00830	0.60513822
83	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.59802358
84	AMPK signaling pathway_Homo sapiens_hsa04152	0.59690979
85	Endometrial cancer_Homo sapiens_hsa05213	0.59406297
86	Serotonergic synapse_Homo sapiens_hsa04726	0.59063871
87	Protein digestion and absorption_Homo sapiens_hsa04974	0.54211253
88	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.53454360
89	ECM-receptor interaction_Homo sapiens_hsa04512	0.53431778
90	ABC transporters_Homo sapiens_hsa02010	0.53331690
91	Estrogen signaling pathway_Homo sapiens_hsa04915	0.52369942
92	Purine metabolism_Homo sapiens_hsa00230	0.51414014
93	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.50543440
94	Glutathione metabolism_Homo sapiens_hsa00480	0.48718538
95	Tight junction_Homo sapiens_hsa04530	0.45565824
96	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.43725403
97	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.42816950
98	Arginine and proline metabolism_Homo sapiens_hsa00330	0.42672170
99	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.40053891
100	Linoleic acid metabolism_Homo sapiens_hsa00591	0.39248155

CSPG4P5

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)

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