ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	5.60717318
2	negative regulation of cytosolic calcium ion concentration (GO:0051481)	5.11835447
3	regulation of cilium movement (GO:0003352)	4.80847399
4	piRNA metabolic process (GO:0034587)	4.35399051
5	behavioral response to ethanol (GO:0048149)	4.05267159
6	epithelial cilium movement (GO:0003351)	3.92626409
7	protein polyglutamylation (GO:0018095)	3.89095828
8	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.79377885
9	nonmotile primary cilium assembly (GO:0035058)	3.71898279
10	centriole replication (GO:0007099)	3.66261467
11	ubiquinone biosynthetic process (GO:0006744)	3.64219780
12	axoneme assembly (GO:0035082)	3.63203733
13	sperm motility (GO:0030317)	3.58936356
14	intraciliary transport (GO:0042073)	3.57745193
15	DNA deamination (GO:0045006)	3.57061108
16	photoreceptor cell maintenance (GO:0045494)	3.53792935
17	platelet dense granule organization (GO:0060155)	3.47681250
18	cellular ketone body metabolic process (GO:0046950)	3.44704108
19	DNA double-strand break processing (GO:0000729)	3.42220370
20	neural tube formation (GO:0001841)	3.40795443
21	GPI anchor metabolic process (GO:0006505)	3.36201378
22	ubiquinone metabolic process (GO:0006743)	3.32560226
23	replication fork processing (GO:0031297)	3.31390766
24	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.30650263
25	respiratory chain complex IV assembly (GO:0008535)	3.24611720
26	protein complex biogenesis (GO:0070271)	3.24274289
27	cilium movement (GO:0003341)	3.22769150
28	cilium or flagellum-dependent cell motility (GO:0001539)	3.22400015
29	indolalkylamine metabolic process (GO:0006586)	3.21855487
30	seminiferous tubule development (GO:0072520)	3.21702930
31	retinal cone cell development (GO:0046549)	3.21508784
32	preassembly of GPI anchor in ER membrane (GO:0016254)	3.20358966
33	detection of light stimulus involved in sensory perception (GO:0050962)	3.18889274
34	detection of light stimulus involved in visual perception (GO:0050908)	3.18889274
35	mitochondrial respiratory chain complex assembly (GO:0033108)	3.16354672
36	quinone biosynthetic process (GO:1901663)	3.15291710
37	ketone body metabolic process (GO:1902224)	3.11243341
38	cytochrome complex assembly (GO:0017004)	3.10866226
39	cilium morphogenesis (GO:0060271)	3.09361084
40	regulation of microtubule-based movement (GO:0060632)	3.09029620
41	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.05598902
42	opioid receptor signaling pathway (GO:0038003)	3.05546258
43	cilium organization (GO:0044782)	3.05285846
44	microtubule severing (GO:0051013)	3.05173791
45	L-fucose catabolic process (GO:0042355)	3.02367326
46	fucose catabolic process (GO:0019317)	3.02367326
47	L-fucose metabolic process (GO:0042354)	3.02367326
48	cilium assembly (GO:0042384)	3.01756394
49	acrosome reaction (GO:0007340)	3.01201648
50	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	3.00961176
51	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.99602160
52	NADH dehydrogenase complex assembly (GO:0010257)	2.99602160
53	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.99602160
54	GPI anchor biosynthetic process (GO:0006506)	2.98667423
55	spermatid development (GO:0007286)	2.96027330
56	tryptophan catabolic process (GO:0006569)	2.93912521
57	indole-containing compound catabolic process (GO:0042436)	2.93912521
58	indolalkylamine catabolic process (GO:0046218)	2.93912521
59	microtubule depolymerization (GO:0007019)	2.93859097
60	C4-dicarboxylate transport (GO:0015740)	2.90528795
61	mannosylation (GO:0097502)	2.88389317
62	gamma-aminobutyric acid transport (GO:0015812)	2.86565670
63	microtubule polymerization or depolymerization (GO:0031109)	2.85407222
64	ether lipid metabolic process (GO:0046485)	2.85224350
65	adult feeding behavior (GO:0008343)	2.82757325
66	behavioral response to nicotine (GO:0035095)	2.82522398
67	DNA integration (GO:0015074)	2.81370203
68	histone mRNA catabolic process (GO:0071044)	2.79194009
69	tachykinin receptor signaling pathway (GO:0007217)	2.78634939
70	tryptophan metabolic process (GO:0006568)	2.76283008
71	cornea development in camera-type eye (GO:0061303)	2.75152179
72	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.73714821
73	anterograde synaptic vesicle transport (GO:0048490)	2.72793999
74	recombinational repair (GO:0000725)	2.71958949
75	photoreceptor cell development (GO:0042461)	2.71909692
76	DNA methylation involved in gamete generation (GO:0043046)	2.70997777
77	multicellular organism reproduction (GO:0032504)	2.70863307
78	double-strand break repair via homologous recombination (GO:0000724)	2.70233524
79	resolution of meiotic recombination intermediates (GO:0000712)	2.70169712
80	negative regulation of cAMP-mediated signaling (GO:0043951)	2.64801038
81	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.64564696
82	mismatch repair (GO:0006298)	2.64544699
83	neuronal action potential (GO:0019228)	2.64302812
84	negative regulation of telomere maintenance (GO:0032205)	2.64118706
85	estrogen biosynthetic process (GO:0006703)	2.63369872
86	water-soluble vitamin biosynthetic process (GO:0042364)	2.61905477
87	positive regulation of mitochondrial fission (GO:0090141)	2.60842084
88	branched-chain amino acid catabolic process (GO:0009083)	2.60783153
89	ncRNA catabolic process (GO:0034661)	2.59988508
90	glycolipid biosynthetic process (GO:0009247)	2.59694819
91	GMP metabolic process (GO:0046037)	2.56769067
92	regulation of meiosis I (GO:0060631)	2.55700615
93	single strand break repair (GO:0000012)	2.53822001
94	positive regulation of developmental pigmentation (GO:0048087)	2.53766798
95	amine catabolic process (GO:0009310)	2.53629288
96	cellular biogenic amine catabolic process (GO:0042402)	2.53629288
97	regulation of telomere maintenance (GO:0032204)	2.53256229
98	C-terminal protein lipidation (GO:0006501)	2.51525696
99	glycerol ether metabolic process (GO:0006662)	2.49102586
100	pyrimidine nucleobase catabolic process (GO:0006208)	2.48882634

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.83219213
2	IGF1R_20145208_ChIP-Seq_DFB_Human	3.17532246
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.12469909
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.07000920
5	VDR_22108803_ChIP-Seq_LS180_Human	2.85509141
6	TAF15_26573619_Chip-Seq_HEK293_Human	2.85486493
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.56406018
8	EZH2_22144423_ChIP-Seq_EOC_Human	2.51507674
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.44563368
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.40456827
11	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.37759035
12	FUS_26573619_Chip-Seq_HEK293_Human	2.35356995
13	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.24360266
14	EWS_26573619_Chip-Seq_HEK293_Human	2.14465642
15	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.14273311
16	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.09362592
17	P300_19829295_ChIP-Seq_ESCs_Human	2.01457175
18	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.00063668
19	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.96037357
20	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.88577478
21	CBP_20019798_ChIP-Seq_JUKART_Human	1.88577478
22	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.88394608
23	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.85732152
24	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.83256549
25	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.81835019
26	ER_23166858_ChIP-Seq_MCF-7_Human	1.81047443
27	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.78759354
28	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.78759354
29	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.67697562
30	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.63439722
31	IRF1_19129219_ChIP-ChIP_H3396_Human	1.60376121
32	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.58690237
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.57642228
34	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.54006618
35	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.51330309
36	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.51271022
37	STAT3_23295773_ChIP-Seq_U87_Human	1.48779239
38	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.48730945
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.48352500
40	SMAD4_21799915_ChIP-Seq_A2780_Human	1.47676971
41	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.46728870
42	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.45817835
43	SOX2_19829295_ChIP-Seq_ESCs_Human	1.45031343
44	NANOG_19829295_ChIP-Seq_ESCs_Human	1.45031343
45	TCF4_23295773_ChIP-Seq_U87_Human	1.40909490
46	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.37197323
47	AR_25329375_ChIP-Seq_VCAP_Human	1.35854354
48	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.33252242
49	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.32942144
50	MYC_18940864_ChIP-ChIP_HL60_Human	1.32558748
51	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.31114535
52	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.30851643
53	VDR_23849224_ChIP-Seq_CD4+_Human	1.30442881
54	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.28623492
55	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.26923311
56	ELK1_19687146_ChIP-ChIP_HELA_Human	1.26157436
57	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.25626859
58	BCAT_22108803_ChIP-Seq_LS180_Human	1.25584002
59	RUNX2_22187159_ChIP-Seq_PCA_Human	1.23918012
60	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.23547870
61	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.23287025
62	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.21846256
63	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.19892125
64	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.19513793
65	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.19513793
66	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.17945035
67	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.17639103
68	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.16819143
69	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.15448982
70	TCF4_22108803_ChIP-Seq_LS180_Human	1.14908501
71	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.13463237
72	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.13374231
73	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.13301321
74	RNF2_27304074_Chip-Seq_NSC_Mouse	1.13183235
75	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.10642818
76	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.08941869
77	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.08894658
78	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.06939560
79	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.06764637
80	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.05724000
81	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.05207230
82	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.04997551
83	REST_21632747_ChIP-Seq_MESCs_Mouse	1.04504193
84	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.04315564
85	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.02680516
86	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.01850930
87	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.01348289
88	NCOR_22424771_ChIP-Seq_293T_Human	1.01229859
89	FOXP3_21729870_ChIP-Seq_TREG_Human	1.01063402
90	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.00231360
91	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.99956430
92	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.99891308
93	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.98545914
94	HOXB7_26014856_ChIP-Seq_BT474_Human	0.98089574
95	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.98028429
96	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.97650724
97	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.96553795
98	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.95854133
99	P53_22387025_ChIP-Seq_ESCs_Mouse	0.95823632
100	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.95323066

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003880_abnormal_central_pattern	4.00599819
2	MP0001968_abnormal_touch/_nociception	2.93084187
3	MP0005551_abnormal_eye_electrophysiolog	2.67088482
4	MP0008877_abnormal_DNA_methylation	2.62957871
5	MP0002102_abnormal_ear_morphology	2.23168121
6	MP0006292_abnormal_olfactory_placode	2.14223092
7	MP0003136_yellow_coat_color	2.06072063
8	MP0005410_abnormal_fertilization	2.03065988
9	MP0003787_abnormal_imprinting	1.98624179
10	MP0008058_abnormal_DNA_repair	1.98198688
11	MP0002638_abnormal_pupillary_reflex	1.95793004
12	MP0001486_abnormal_startle_reflex	1.92739022
13	MP0002876_abnormal_thyroid_physiology	1.92523017
14	MP0000015_abnormal_ear_pigmentation	1.89232583
15	MP0002736_abnormal_nociception_after	1.85772097
16	MP0000372_irregular_coat_pigmentation	1.83604533
17	MP0005645_abnormal_hypothalamus_physiol	1.81629675
18	MP0005646_abnormal_pituitary_gland	1.77933786
19	MP0002735_abnormal_chemical_nociception	1.75261677
20	MP0001986_abnormal_taste_sensitivity	1.74676750
21	MP0005423_abnormal_somatic_nervous	1.73246900
22	MP0006276_abnormal_autonomic_nervous	1.73224452
23	MP0006072_abnormal_retinal_apoptosis	1.73055402
24	MP0001529_abnormal_vocalization	1.66945114
25	MP0005253_abnormal_eye_physiology	1.66705116
26	MP0003718_maternal_effect	1.63165096
27	MP0009745_abnormal_behavioral_response	1.60373371
28	MP0008789_abnormal_olfactory_epithelium	1.60228311
29	MP0000569_abnormal_digit_pigmentation	1.58793492
30	MP0009278_abnormal_bone_marrow	1.57855289
31	MP0002653_abnormal_ependyma_morphology	1.57571282
32	MP0001984_abnormal_olfaction	1.57043446
33	MP0008872_abnormal_physiological_respon	1.55631466
34	MP0009046_muscle_twitch	1.51722041
35	MP0002272_abnormal_nervous_system	1.50300324
36	MP0008995_early_reproductive_senescence	1.49049390
37	MP0002234_abnormal_pharynx_morphology	1.48902229
38	MP0001501_abnormal_sleep_pattern	1.44349264
39	MP0008875_abnormal_xenobiotic_pharmacok	1.42921992
40	MP0006035_abnormal_mitochondrial_morpho	1.41815236
41	MP0003195_calcinosis	1.38726388
42	MP0003698_abnormal_male_reproductive	1.38700765
43	MP0002095_abnormal_skin_pigmentation	1.38184149
44	MP0005075_abnormal_melanosome_morpholog	1.37868249
45	MP0010386_abnormal_urinary_bladder	1.35378488
46	MP0004147_increased_porphyrin_level	1.35009350
47	MP0004043_abnormal_pH_regulation	1.33912846
48	MP0002938_white_spotting	1.33205084
49	MP0005499_abnormal_olfactory_system	1.30556387
50	MP0005394_taste/olfaction_phenotype	1.30556387
51	MP0001929_abnormal_gametogenesis	1.30234302
52	MP0001485_abnormal_pinna_reflex	1.25567470
53	MP0003646_muscle_fatigue	1.24811916
54	MP0002837_dystrophic_cardiac_calcinosis	1.21929671
55	MP0001764_abnormal_homeostasis	1.21508554
56	MP0003121_genomic_imprinting	1.19659298
57	MP0002572_abnormal_emotion/affect_behav	1.19267203
58	MP0001970_abnormal_pain_threshold	1.19139230
59	MP0002733_abnormal_thermal_nociception	1.17163755
60	MP0001324_abnormal_eye_pigmentation	1.15875121
61	MP0002067_abnormal_sensory_capabilities	1.13504742
62	MP0000778_abnormal_nervous_system	1.12257234
63	MP0005174_abnormal_tail_pigmentation	1.10879273
64	MP0000631_abnormal_neuroendocrine_gland	1.08767830
65	MP0003122_maternal_imprinting	1.08517046
66	MP0001905_abnormal_dopamine_level	1.08215586
67	MP0002064_seizures	1.07071686
68	MP0003011_delayed_dark_adaptation	1.06838872
69	MP0005084_abnormal_gallbladder_morpholo	1.06502296
70	MP0002160_abnormal_reproductive_system	1.05815057
71	MP0002557_abnormal_social/conspecific_i	1.05613702
72	MP0003635_abnormal_synaptic_transmissio	1.04810587
73	MP0004133_heterotaxia	1.04573607
74	MP0005171_absent_coat_pigmentation	1.03569510
75	MP0001963_abnormal_hearing_physiology	1.03113264
76	MP0004742_abnormal_vestibular_system	1.02850011
77	MP0004142_abnormal_muscle_tone	1.01109991
78	MP0010094_abnormal_chromosome_stability	1.00451626
79	MP0002751_abnormal_autonomic_nervous	1.00197848
80	MP0000516_abnormal_urinary_system	0.98714217
81	MP0005367_renal/urinary_system_phenotyp	0.98714217
82	MP0005377_hearing/vestibular/ear_phenot	0.97956606
83	MP0003878_abnormal_ear_physiology	0.97956606
84	MP0009764_decreased_sensitivity_to	0.97110586
85	MP0005195_abnormal_posterior_eye	0.96906825
86	MP0002752_abnormal_somatic_nervous	0.94027633
87	MP0002734_abnormal_mechanical_nocicepti	0.89877632
88	MP0006036_abnormal_mitochondrial_physio	0.89693862
89	MP0000566_synostosis	0.87792389
90	MP0002282_abnormal_trachea_morphology	0.86251627
91	MP0002210_abnormal_sex_determination	0.85935634
92	MP0002229_neurodegeneration	0.85219229
93	MP0005397_hematopoietic_system_phenotyp	0.84557234
94	MP0001545_abnormal_hematopoietic_system	0.84557234
95	MP0004859_abnormal_synaptic_plasticity	0.84247430
96	MP0003567_abnormal_fetal_cardiomyocyte	0.83478000
97	MP0000653_abnormal_sex_gland	0.82367253
98	MP0000026_abnormal_inner_ear	0.81090104
99	MP0002822_catalepsy	0.79788943
100	MP0002063_abnormal_learning/memory/cond	0.79712050

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.17503409
2	Pancreatic fibrosis (HP:0100732)	4.16489318
3	True hermaphroditism (HP:0010459)	4.04001830
4	Thyroid-stimulating hormone excess (HP:0002925)	3.73634769
5	Medial flaring of the eyebrow (HP:0010747)	3.61919767
6	Abnormality of midbrain morphology (HP:0002418)	3.56685347
7	Molar tooth sign on MRI (HP:0002419)	3.56685347
8	Nephronophthisis (HP:0000090)	3.48104039
9	Gait imbalance (HP:0002141)	3.18370454
10	Congenital primary aphakia (HP:0007707)	3.14291199
11	Nephrogenic diabetes insipidus (HP:0009806)	3.02911832
12	Abnormality of the renal medulla (HP:0100957)	2.92904864
13	Focal motor seizures (HP:0011153)	2.90841416
14	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.86110695
15	Congenital stationary night blindness (HP:0007642)	2.84535631
16	Attenuation of retinal blood vessels (HP:0007843)	2.82925881
17	Intestinal atresia (HP:0011100)	2.73457189
18	Cystic liver disease (HP:0006706)	2.73106093
19	Progressive inability to walk (HP:0002505)	2.72565771
20	Genital tract atresia (HP:0001827)	2.70187623
21	Volvulus (HP:0002580)	2.65547143
22	Hepatocellular necrosis (HP:0001404)	2.62135099
23	Abnormality of the renal cortex (HP:0011035)	2.61909718
24	Hyperventilation (HP:0002883)	2.59123498
25	Abnormality of macular pigmentation (HP:0008002)	2.58994860
26	Gaze-evoked nystagmus (HP:0000640)	2.58246781
27	Chronic hepatic failure (HP:0100626)	2.57326688
28	Tubulointerstitial nephritis (HP:0001970)	2.57042140
29	Vaginal atresia (HP:0000148)	2.55980431
30	Inability to walk (HP:0002540)	2.55858833
31	Abnormal rod and cone electroretinograms (HP:0008323)	2.55610679
32	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.55608212
33	Renal cortical cysts (HP:0000803)	2.54692866
34	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.41932555
35	Absent/shortened dynein arms (HP:0200106)	2.41932555
36	Hepatic necrosis (HP:0002605)	2.39840659
37	Postaxial foot polydactyly (HP:0001830)	2.38360779
38	Short tibia (HP:0005736)	2.37965653
39	Mitochondrial inheritance (HP:0001427)	2.31837721
40	Severe visual impairment (HP:0001141)	2.30838000
41	Abnormality of the labia minora (HP:0012880)	2.30792504
42	Increased CSF lactate (HP:0002490)	2.28275850
43	Abnormality of the ileum (HP:0001549)	2.27701594
44	Congenital hepatic fibrosis (HP:0002612)	2.27196198
45	Anencephaly (HP:0002323)	2.21897714
46	Broad-based gait (HP:0002136)	2.21003116
47	Abolished electroretinogram (ERG) (HP:0000550)	2.20584206
48	Poor coordination (HP:0002370)	2.20151843
49	Sclerocornea (HP:0000647)	2.18129329
50	Abnormal respiratory epithelium morphology (HP:0012253)	2.17879706
51	Abnormal respiratory motile cilium morphology (HP:0005938)	2.17879706
52	Bony spicule pigmentary retinopathy (HP:0007737)	2.17036026
53	Abnormal ciliary motility (HP:0012262)	2.15754524
54	Colon cancer (HP:0003003)	2.15478093
55	Type II lissencephaly (HP:0007260)	2.14377407
56	Lissencephaly (HP:0001339)	2.13107819
57	Hyperglycinemia (HP:0002154)	2.12910088
58	Optic nerve hypoplasia (HP:0000609)	2.11524729
59	Absent speech (HP:0001344)	2.11274797
60	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.10002606
61	Pendular nystagmus (HP:0012043)	2.09371275
62	Astigmatism (HP:0000483)	2.07984911
63	Retinitis pigmentosa (HP:0000510)	2.07572814
64	Decreased central vision (HP:0007663)	2.05891574
65	Hyperglycinuria (HP:0003108)	2.03133827
66	Methylmalonic acidemia (HP:0002912)	2.01572856
67	Male pseudohermaphroditism (HP:0000037)	2.01242516
68	Large for gestational age (HP:0001520)	2.00079812
69	Sloping forehead (HP:0000340)	2.00041925
70	Focal seizures (HP:0007359)	1.99759515
71	Acute encephalopathy (HP:0006846)	1.98229029
72	Abnormal biliary tract physiology (HP:0012439)	1.97972376
73	Bile duct proliferation (HP:0001408)	1.97972376
74	Postaxial hand polydactyly (HP:0001162)	1.97884908
75	Preaxial hand polydactyly (HP:0001177)	1.97877892
76	Acute necrotizing encephalopathy (HP:0006965)	1.95536754
77	Cerebellar dysplasia (HP:0007033)	1.93832387
78	Dialeptic seizures (HP:0011146)	1.93270173
79	Tubular atrophy (HP:0000092)	1.93062570
80	Atonic seizures (HP:0010819)	1.91794133
81	Keratoconus (HP:0000563)	1.89915910
82	Increased corneal curvature (HP:0100692)	1.89915910
83	Progressive cerebellar ataxia (HP:0002073)	1.88780426
84	Pancreatic islet-cell hyperplasia (HP:0004510)	1.86598342
85	Aganglionic megacolon (HP:0002251)	1.85620367
86	Lipid accumulation in hepatocytes (HP:0006561)	1.84570716
87	Meckel diverticulum (HP:0002245)	1.84547449
88	Hypothermia (HP:0002045)	1.84530094
89	Clubbing of toes (HP:0100760)	1.83776265
90	Polydipsia (HP:0001959)	1.83112808
91	Abnormal drinking behavior (HP:0030082)	1.83112808
92	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.82680672
93	Increased hepatocellular lipid droplets (HP:0006565)	1.81533843
94	Optic disc pallor (HP:0000543)	1.81382190
95	Abnormality of glycine metabolism (HP:0010895)	1.80335659
96	Abnormality of serine family amino acid metabolism (HP:0010894)	1.80335659
97	Occipital encephalocele (HP:0002085)	1.80152040
98	Broad foot (HP:0001769)	1.79932696
99	Tubulointerstitial abnormality (HP:0001969)	1.78438283
100	Methylmalonic aciduria (HP:0012120)	1.78279969

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.86369245
2	MAP4K2	4.19397284
3	ADRBK2	3.08404144
4	WNK3	2.96244983
5	NUAK1	2.66687047
6	MAPK13	2.51447638
7	MAP3K4	2.41293026
8	INSRR	2.34933709
9	BCKDK	2.30101115
10	BMPR1B	2.16768250
11	CASK	2.09176769
12	ZAK	1.99200895
13	MAP2K7	1.98449542
14	PLK4	1.98206793
15	TRIM28	1.94122521
16	NEK1	1.92430582
17	VRK2	1.78517557
18	PINK1	1.78048491
19	MARK1	1.72681530
20	TAOK3	1.56766381
21	PLK2	1.53566970
22	EIF2AK3	1.42118079
23	CSNK1G3	1.34057868
24	CSNK1G2	1.24518928
25	VRK1	1.21153203
26	CSNK1A1L	1.20802511
27	CCNB1	1.18568134
28	PNCK	1.16553604
29	ACVR1B	1.16378990
30	GRK1	1.16025238
31	CSNK1G1	1.13898999
32	MKNK1	1.13560440
33	MKNK2	1.09702393
34	WEE1	1.09322414
35	BRSK2	1.07038950
36	ADRBK1	1.04460406
37	BCR	1.03589111
38	TNIK	1.02867184
39	PRKCE	1.02434468
40	DYRK2	0.94800528
41	STK39	0.93870444
42	STK38L	0.93854732
43	PRKCG	0.89980810
44	PAK3	0.87767570
45	FLT3	0.87176496
46	MAPKAPK5	0.86353530
47	PLK3	0.85980426
48	TGFBR1	0.81514571
49	DYRK3	0.80331648
50	OXSR1	0.77884843
51	EPHA4	0.76852367
52	PKN1	0.70674879
53	MAPKAPK3	0.68704952
54	NEK2	0.68118532
55	SRPK1	0.66254335
56	ERBB3	0.65902794
57	FER	0.65675621
58	TLK1	0.63495796
59	ATR	0.62183664
60	CDC7	0.61717314
61	PDK2	0.61496931
62	CDK3	0.61463797
63	WNK4	0.60876682
64	RPS6KA4	0.58359383
65	AKT3	0.58040107
66	PIK3CA	0.57045973
67	CAMK2A	0.55947483
68	TIE1	0.54708048
69	PLK1	0.54255464
70	NTRK2	0.52410609
71	TAF1	0.52035229
72	STK16	0.51908344
73	IRAK1	0.49384570
74	PIM2	0.47484894
75	CHEK2	0.47314222
76	TEC	0.45325372
77	CSNK1A1	0.45274873
78	ATM	0.44439768
79	MAP2K4	0.43758676
80	TNK2	0.41563406
81	EIF2AK2	0.40687929
82	MST4	0.40034134
83	PTK2B	0.39767577
84	PRKACA	0.38054535
85	SIK2	0.37881783
86	PRKCQ	0.37875152
87	KIT	0.37041634
88	BRD4	0.35727896
89	DYRK1A	0.35216877
90	MAPK15	0.34611521
91	IKBKB	0.32234193
92	CSNK1D	0.32157380
93	GRK5	0.30729335
94	CAMK1	0.30603375
95	RPS6KA5	0.29388737
96	PRKG1	0.28232104
97	CSNK2A1	0.26678514
98	MARK3	0.26597170
99	MINK1	0.26077946
100	NTRK3	0.26048179

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.81954200
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	3.09285375
3	Butanoate metabolism_Homo sapiens_hsa00650	3.06419774
4	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.91341195
5	Fanconi anemia pathway_Homo sapiens_hsa03460	2.84303113
6	Phototransduction_Homo sapiens_hsa04744	2.53413570
7	Homologous recombination_Homo sapiens_hsa03440	2.39418682
8	Propanoate metabolism_Homo sapiens_hsa00640	2.38296284
9	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.32499344
10	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.16187204
11	Protein export_Homo sapiens_hsa03060	1.99316030
12	Basal transcription factors_Homo sapiens_hsa03022	1.97142480
13	RNA polymerase_Homo sapiens_hsa03020	1.71552746
14	Olfactory transduction_Homo sapiens_hsa04740	1.69810811
15	Linoleic acid metabolism_Homo sapiens_hsa00591	1.68530639
16	Non-homologous end-joining_Homo sapiens_hsa03450	1.68366913
17	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.68096032
18	Nicotine addiction_Homo sapiens_hsa05033	1.67068433
19	Nitrogen metabolism_Homo sapiens_hsa00910	1.62866001
20	Peroxisome_Homo sapiens_hsa04146	1.62541538
21	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.59571386
22	Oxidative phosphorylation_Homo sapiens_hsa00190	1.58525592
23	Base excision repair_Homo sapiens_hsa03410	1.57714537
24	RNA degradation_Homo sapiens_hsa03018	1.54436460
25	Taste transduction_Homo sapiens_hsa04742	1.54094572
26	Tryptophan metabolism_Homo sapiens_hsa00380	1.52986932
27	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.49538211
28	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.49088745
29	Selenocompound metabolism_Homo sapiens_hsa00450	1.46771510
30	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.45299979
31	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.40318934
32	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.37030343
33	Parkinsons disease_Homo sapiens_hsa05012	1.35026755
34	Proteasome_Homo sapiens_hsa03050	1.35022080
35	Caffeine metabolism_Homo sapiens_hsa00232	1.30857206
36	ABC transporters_Homo sapiens_hsa02010	1.18055531
37	Regulation of autophagy_Homo sapiens_hsa04140	1.17425857
38	Ether lipid metabolism_Homo sapiens_hsa00565	1.16476922
39	Huntingtons disease_Homo sapiens_hsa05016	1.13526830
40	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.11452010
41	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.09426814
42	Purine metabolism_Homo sapiens_hsa00230	1.04258564
43	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.02836996
44	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.01473286
45	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.98685878
46	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.96631303
47	Chemical carcinogenesis_Homo sapiens_hsa05204	0.92513700
48	Fatty acid degradation_Homo sapiens_hsa00071	0.92222113
49	Fatty acid metabolism_Homo sapiens_hsa01212	0.90425243
50	Nucleotide excision repair_Homo sapiens_hsa03420	0.88729876
51	One carbon pool by folate_Homo sapiens_hsa00670	0.86257861
52	RNA transport_Homo sapiens_hsa03013	0.86013501
53	Pyrimidine metabolism_Homo sapiens_hsa00240	0.84183424
54	Fatty acid elongation_Homo sapiens_hsa00062	0.83734030
55	Metabolic pathways_Homo sapiens_hsa01100	0.83242362
56	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.82395375
57	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.82233566
58	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.81570235
59	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.77755616
60	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.75919898
61	Steroid biosynthesis_Homo sapiens_hsa00100	0.75025182
62	Morphine addiction_Homo sapiens_hsa05032	0.74702110
63	Retinol metabolism_Homo sapiens_hsa00830	0.74607098
64	Mismatch repair_Homo sapiens_hsa03430	0.73987461
65	Glycerolipid metabolism_Homo sapiens_hsa00561	0.70872283
66	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.70339328
67	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.69598134
68	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.66560397
69	Alzheimers disease_Homo sapiens_hsa05010	0.65821188
70	beta-Alanine metabolism_Homo sapiens_hsa00410	0.61212391
71	Glutathione metabolism_Homo sapiens_hsa00480	0.60538790
72	Primary immunodeficiency_Homo sapiens_hsa05340	0.59841460
73	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.57336521
74	Salivary secretion_Homo sapiens_hsa04970	0.56986431
75	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.56688748
76	Circadian entrainment_Homo sapiens_hsa04713	0.56001248
77	GABAergic synapse_Homo sapiens_hsa04727	0.54105686
78	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.53691011
79	Glutamatergic synapse_Homo sapiens_hsa04724	0.53298031
80	Collecting duct acid secretion_Homo sapiens_hsa04966	0.51528679
81	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.51011318
82	Cardiac muscle contraction_Homo sapiens_hsa04260	0.49904029
83	Calcium signaling pathway_Homo sapiens_hsa04020	0.46066160
84	Sphingolipid metabolism_Homo sapiens_hsa00600	0.43559345
85	Serotonergic synapse_Homo sapiens_hsa04726	0.42452275
86	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.40865613
87	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.39591852
88	Pyruvate metabolism_Homo sapiens_hsa00620	0.38054734
89	Oocyte meiosis_Homo sapiens_hsa04114	0.36762615
90	Sulfur relay system_Homo sapiens_hsa04122	0.36159419
91	Lysine degradation_Homo sapiens_hsa00310	0.34794943
92	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.33742569
93	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.32891437
94	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.32680985
95	Fat digestion and absorption_Homo sapiens_hsa04975	0.31350605
96	Spliceosome_Homo sapiens_hsa03040	0.30417318
97	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.30159872
98	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.29601144
99	DNA replication_Homo sapiens_hsa03030	0.29196831
100	Arginine and proline metabolism_Homo sapiens_hsa00330	0.27443479

SPDYE9P

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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