ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	fusion of sperm to egg plasma membrane (GO:0007342)	5.90145576
2	cellular ketone body metabolic process (GO:0046950)	5.19799540
3	ketone body metabolic process (GO:1902224)	5.12124233
4	acrosome reaction (GO:0007340)	4.91084087
5	proteasome assembly (GO:0043248)	4.75528719
6	response to pheromone (GO:0019236)	4.64596747
7	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.54248251
8	microtubule depolymerization (GO:0007019)	4.49073392
9	plasma membrane fusion (GO:0045026)	4.47300600
10	centriole replication (GO:0007099)	4.27461497
11	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	4.11257543
12	platelet dense granule organization (GO:0060155)	3.97409293
13	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.88371618
14	negative regulation of synaptic transmission, GABAergic (GO:0032229)	3.80890505
15	sperm motility (GO:0030317)	3.79717873
16	chromosome condensation (GO:0030261)	3.73140032
17	C4-dicarboxylate transport (GO:0015740)	3.70205329
18	cranial nerve morphogenesis (GO:0021602)	3.68942139
19	regulation of cell maturation (GO:1903429)	3.62209135
20	negative regulation of amino acid transport (GO:0051956)	3.60669409
21	multicellular organism reproduction (GO:0032504)	3.47025186
22	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.43674327
23	regulation of mitotic spindle checkpoint (GO:1903504)	3.43674327
24	protein polyglutamylation (GO:0018095)	3.41033064
25	positive regulation of gastrulation (GO:2000543)	3.40536998
26	piRNA metabolic process (GO:0034587)	3.34713572
27	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.33811571
28	DNA damage response, detection of DNA damage (GO:0042769)	3.31343670
29	sperm-egg recognition (GO:0035036)	3.30443526
30	mitochondrial calcium ion transport (GO:0006851)	3.26072609
31	DNA packaging (GO:0006323)	3.24516818
32	DNA deamination (GO:0045006)	3.19971564
33	microtubule polymerization or depolymerization (GO:0031109)	3.19431891
34	sequestering of actin monomers (GO:0042989)	3.18722002
35	regulation of glutamate secretion (GO:0014048)	3.16832616
36	transmission of nerve impulse (GO:0019226)	3.16683668
37	intra-S DNA damage checkpoint (GO:0031573)	3.15374965
38	maturation of 5.8S rRNA (GO:0000460)	3.09899393
39	histone H2A acetylation (GO:0043968)	3.08428701
40	spliceosomal snRNP assembly (GO:0000387)	3.01105284
41	regulation of centriole replication (GO:0046599)	3.00177952
42	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.98347665
43	negative regulation of meiotic cell cycle (GO:0051447)	2.92855391
44	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.91513467
45	ATP synthesis coupled proton transport (GO:0015986)	2.91513467
46	positive regulation of mitochondrial fission (GO:0090141)	2.91406371
47	binding of sperm to zona pellucida (GO:0007339)	2.91144318
48	dopamine transport (GO:0015872)	2.91131631
49	chaperone-mediated protein transport (GO:0072321)	2.91116011
50	DNA methylation involved in gamete generation (GO:0043046)	2.88661764
51	receptor guanylyl cyclase signaling pathway (GO:0007168)	2.88232092
52	somite rostral/caudal axis specification (GO:0032525)	2.88055503
53	pyrimidine nucleobase catabolic process (GO:0006208)	2.84541676
54	regulation of mitochondrial translation (GO:0070129)	2.82042900
55	intraciliary transport (GO:0042073)	2.79786637
56	spermatid development (GO:0007286)	2.77864078
57	reproduction (GO:0000003)	2.77369363
58	ncRNA catabolic process (GO:0034661)	2.73789324
59	positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	2.73643335
60	dendritic spine morphogenesis (GO:0060997)	2.72345897
61	regulation of meiosis I (GO:0060631)	2.70787341
62	forebrain neuron differentiation (GO:0021879)	2.70766929
63	meiotic chromosome segregation (GO:0045132)	2.69382857
64	peptidyl-threonine dephosphorylation (GO:0035970)	2.69046095
65	spliceosomal complex assembly (GO:0000245)	2.67565305
66	imidazole-containing compound metabolic process (GO:0052803)	2.67177495
67	regulation of somitogenesis (GO:0014807)	2.67159850
68	protein targeting to Golgi (GO:0000042)	2.66828006
69	cell-cell recognition (GO:0009988)	2.66164486
70	centriole assembly (GO:0098534)	2.66024931
71	peptidyl-histidine modification (GO:0018202)	2.64996855
72	presynaptic membrane assembly (GO:0097105)	2.63635616
73	membrane hyperpolarization (GO:0060081)	2.60151045
74	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	2.57884986
75	establishment of protein localization to Golgi (GO:0072600)	2.56983886
76	male gamete generation (GO:0048232)	2.54661845
77	spermatogenesis (GO:0007283)	2.54212319
78	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.54186773
79	spermatid nucleus differentiation (GO:0007289)	2.50821404
80	protein complex biogenesis (GO:0070271)	2.50453840
81	sulfation (GO:0051923)	2.49750042
82	calcium ion-dependent exocytosis (GO:0017156)	2.49444390
83	axonemal dynein complex assembly (GO:0070286)	2.49280919
84	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.48140417
85	coenzyme catabolic process (GO:0009109)	2.47238361
86	positive regulation of natural killer cell mediated immunity (GO:0002717)	2.45680497
87	urogenital system development (GO:0001655)	2.44492514
88	histone exchange (GO:0043486)	2.43260471
89	rRNA modification (GO:0000154)	2.42631777
90	retinal ganglion cell axon guidance (GO:0031290)	2.42477733
91	respiratory chain complex IV assembly (GO:0008535)	2.42046342
92	positive regulation of cGMP biosynthetic process (GO:0030828)	2.41148342
93	single strand break repair (GO:0000012)	2.40480517
94	positive regulation of digestive system process (GO:0060456)	2.39940473
95	attachment of spindle microtubules to kinetochore (GO:0008608)	2.39846130
96	nucleobase catabolic process (GO:0046113)	2.39700450
97	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.37977178
98	single fertilization (GO:0007338)	2.37561834
99	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.37559836
100	NADH dehydrogenase complex assembly (GO:0010257)	2.37559836

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.82861200
2	VDR_22108803_ChIP-Seq_LS180_Human	3.64479212
3	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	3.13786468
4	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.09111916
5	ZNF274_21170338_ChIP-Seq_K562_Hela	2.96428707
6	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.90909033
7	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.90346805
8	IRF1_19129219_ChIP-ChIP_H3396_Human	2.77334460
9	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.75063181
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.62797571
11	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.60888831
12	FUS_26573619_Chip-Seq_HEK293_Human	2.44549837
13	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.41960634
14	EZH2_22144423_ChIP-Seq_EOC_Human	2.25009572
15	TAF15_26573619_Chip-Seq_HEK293_Human	2.24712911
16	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.23162291
17	EWS_26573619_Chip-Seq_HEK293_Human	2.22963435
18	GBX2_23144817_ChIP-Seq_PC3_Human	2.09893381
19	HTT_18923047_ChIP-ChIP_STHdh_Human	2.02863879
20	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.02668545
21	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.87687129
22	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.87241809
23	MYC_18940864_ChIP-ChIP_HL60_Human	1.86375048
24	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.85189343
25	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.85189343
26	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.84952803
27	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.83791456
28	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.83663846
29	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.74260451
30	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.73979440
31	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.73552861
32	P300_19829295_ChIP-Seq_ESCs_Human	1.70569406
33	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.70553315
34	CBP_20019798_ChIP-Seq_JUKART_Human	1.70553315
35	ER_23166858_ChIP-Seq_MCF-7_Human	1.67120610
36	VDR_23849224_ChIP-Seq_CD4+_Human	1.64932271
37	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.63655405
38	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.62155075
39	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.61219041
40	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.58268030
41	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.55958280
42	ELK1_19687146_ChIP-ChIP_HELA_Human	1.55155287
43	IGF1R_20145208_ChIP-Seq_DFB_Human	1.50386676
44	FOXP3_21729870_ChIP-Seq_TREG_Human	1.48556595
45	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.47403710
46	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.46751759
47	NCOR_22424771_ChIP-Seq_293T_Human	1.45355102
48	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.42527330
49	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.38373469
50	MYC_19829295_ChIP-Seq_ESCs_Human	1.37550291
51	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.37358935
52	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.32464656
53	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.31526904
54	TP53_22573176_ChIP-Seq_HFKS_Human	1.31234575
55	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.29772741
56	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.27622455
57	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.26267611
58	RNF2_27304074_Chip-Seq_NSC_Mouse	1.23806200
59	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.21597781
60	HOXB7_26014856_ChIP-Seq_BT474_Human	1.19565508
61	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.16001218
62	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.15090689
63	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.14289603
64	RUNX2_22187159_ChIP-Seq_PCA_Human	1.11517154
65	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.09654642
66	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.09507730
67	TCF4_22108803_ChIP-Seq_LS180_Human	1.09027965
68	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.09004603
69	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.08856556
70	RBPJ_21746931_ChIP-Seq_IB4_Human	1.08060216
71	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.08040352
72	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.06558344
73	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.05874720
74	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.05874720
75	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.04537775
76	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.03233575
77	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.03018572
78	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.01265662
79	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.98742091
80	SOX2_19829295_ChIP-Seq_ESCs_Human	0.97772063
81	NANOG_19829295_ChIP-Seq_ESCs_Human	0.97772063
82	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.95193524
83	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.94973399
84	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.94424067
85	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	0.94305511
86	SMAD4_21799915_ChIP-Seq_A2780_Human	0.94088699
87	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.94054322
88	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.93703603
89	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.92877174
90	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	0.92752503
91	HNFA_21074721_ChIP-Seq_CACO-2_Human	0.92425362
92	ETV1_20927104_ChIP-Seq_GIST48_Human	0.92159778
93	ERA_21632823_ChIP-Seq_H3396_Human	0.91945904
94	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.91794924
95	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.91622365
96	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.90566363
97	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.90299114
98	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.89884671
99	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.89771467
100	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.89111738

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006276_abnormal_autonomic_nervous	4.75386647
2	MP0002102_abnormal_ear_morphology	3.82428955
3	MP0005410_abnormal_fertilization	3.64472269
4	MP0000372_irregular_coat_pigmentation	3.13086719
5	MP0001529_abnormal_vocalization	3.11881012
6	MP0003880_abnormal_central_pattern	3.07213821
7	MP0004133_heterotaxia	2.96327017
8	MP0009697_abnormal_copulation	2.85273479
9	MP0003136_yellow_coat_color	2.54746470
10	MP0009379_abnormal_foot_pigmentation	2.53396866
11	MP0002277_abnormal_respiratory_mucosa	2.52839976
12	MP0003137_abnormal_impulse_conducting	2.52388392
13	MP0008961_abnormal_basal_metabolism	1.95570121
14	MP0002254_reproductive_system_inflammat	1.93256431
15	MP0005377_hearing/vestibular/ear_phenot	1.90277231
16	MP0003878_abnormal_ear_physiology	1.90277231
17	MP0006292_abnormal_olfactory_placode	1.85772380
18	MP0008058_abnormal_DNA_repair	1.85150603
19	MP0003698_abnormal_male_reproductive	1.77848810
20	MP0003718_maternal_effect	1.68500135
21	MP0010094_abnormal_chromosome_stability	1.68324341
22	MP0001929_abnormal_gametogenesis	1.67319350
23	MP0003011_delayed_dark_adaptation	1.66260762
24	MP0005084_abnormal_gallbladder_morpholo	1.64864897
25	MP0002938_white_spotting	1.57253141
26	MP0003787_abnormal_imprinting	1.47535706
27	MP0008877_abnormal_DNA_methylation	1.47501739
28	MP0004742_abnormal_vestibular_system	1.45776510
29	MP0001293_anophthalmia	1.41421687
30	MP0003567_abnormal_fetal_cardiomyocyte	1.41152872
31	MP0003941_abnormal_skin_development	1.39196250
32	MP0005253_abnormal_eye_physiology	1.38733697
33	MP0005171_absent_coat_pigmentation	1.38403405
34	MP0002282_abnormal_trachea_morphology	1.37466105
35	MP0001764_abnormal_homeostasis	1.36728271
36	MP0005551_abnormal_eye_electrophysiolog	1.33442562
37	MP0001485_abnormal_pinna_reflex	1.32516862
38	MP0002234_abnormal_pharynx_morphology	1.31541212
39	MP0002653_abnormal_ependyma_morphology	1.28817933
40	MP0004142_abnormal_muscle_tone	1.27987854
41	MP0001486_abnormal_startle_reflex	1.27968989
42	MP0006072_abnormal_retinal_apoptosis	1.26921463
43	MP0002928_abnormal_bile_duct	1.23397371
44	MP0005408_hypopigmentation	1.22064308
45	MP0009046_muscle_twitch	1.20697683
46	MP0005386_behavior/neurological_phenoty	1.15832079
47	MP0004924_abnormal_behavior	1.15832079
48	MP0002249_abnormal_larynx_morphology	1.14615528
49	MP0008872_abnormal_physiological_respon	1.12894616
50	MP0003890_abnormal_embryonic-extraembry	1.11517686
51	MP0004147_increased_porphyrin_level	1.09980344
52	MP0002111_abnormal_tail_morphology	1.09623370
53	MP0004145_abnormal_muscle_electrophysio	1.08702701
54	MP0004957_abnormal_blastocyst_morpholog	1.07219595
55	MP0002210_abnormal_sex_determination	1.06779926
56	MP0002161_abnormal_fertility/fecundity	1.06521628
57	MP0004085_abnormal_heartbeat	1.06350216
58	MP0005391_vision/eye_phenotype	1.05647237
59	MP0000778_abnormal_nervous_system	1.05365115
60	MP0003119_abnormal_digestive_system	1.03951222
61	MP0000049_abnormal_middle_ear	1.03915877
62	MP0000631_abnormal_neuroendocrine_gland	1.03898051
63	MP0003121_genomic_imprinting	0.99493483
64	MP0003195_calcinosis	0.95953815
65	MP0008875_abnormal_xenobiotic_pharmacok	0.94655562
66	MP0000026_abnormal_inner_ear	0.93252359
67	MP0000653_abnormal_sex_gland	0.91896462
68	MP0002067_abnormal_sensory_capabilities	0.90340234
69	MP0005167_abnormal_blood-brain_barrier	0.90166516
70	MP0001963_abnormal_hearing_physiology	0.90040362
71	MP0000516_abnormal_urinary_system	0.89559126
72	MP0005367_renal/urinary_system_phenotyp	0.89559126
73	MP0002751_abnormal_autonomic_nervous	0.89450826
74	MP0002095_abnormal_skin_pigmentation	0.86057095
75	MP0001188_hyperpigmentation	0.85380997
76	MP0001145_abnormal_male_reproductive	0.84430888
77	MP0008770_decreased_survivor_rate	0.84283776
78	MP0004043_abnormal_pH_regulation	0.84120663
79	MP0003938_abnormal_ear_development	0.82983138
80	MP0003077_abnormal_cell_cycle	0.80988834
81	MP0003786_premature_aging	0.80066313
82	MP0003111_abnormal_nucleus_morphology	0.79042497
83	MP0002752_abnormal_somatic_nervous	0.78727660
84	MP0003937_abnormal_limbs/digits/tail_de	0.78468171
85	MP0008007_abnormal_cellular_replicative	0.76198709
86	MP0003123_paternal_imprinting	0.74595519
87	MP0000955_abnormal_spinal_cord	0.72390411
88	MP0001286_abnormal_eye_development	0.72144393
89	MP0002733_abnormal_thermal_nociception	0.71117209
90	MP0003646_muscle_fatigue	0.70830341
91	MP0002132_abnormal_respiratory_system	0.69373429
92	MP0005195_abnormal_posterior_eye	0.69009034
93	MP0001119_abnormal_female_reproductive	0.67559042
94	MP0002697_abnormal_eye_size	0.67481251
95	MP0002557_abnormal_social/conspecific_i	0.67214670
96	MP0002177_abnormal_outer_ear	0.66189776
97	MP0002638_abnormal_pupillary_reflex	0.65086037
98	MP0001970_abnormal_pain_threshold	0.64846820
99	MP0005423_abnormal_somatic_nervous	0.63622286
100	MP0005332_abnormal_amino_acid	0.63046441

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Occipital encephalocele (HP:0002085)	4.40407592
2	Pancreatic cysts (HP:0001737)	3.80647880
3	Increased hepatocellular lipid droplets (HP:0006565)	3.71466189
4	True hermaphroditism (HP:0010459)	3.60325713
5	Renal Fanconi syndrome (HP:0001994)	3.53667531
6	Cerebellar dysplasia (HP:0007033)	3.48976637
7	Pancreatic fibrosis (HP:0100732)	3.41855153
8	Volvulus (HP:0002580)	3.37800208
9	Congenital, generalized hypertrichosis (HP:0004540)	3.32916880
10	Hepatocellular necrosis (HP:0001404)	3.32212511
11	Mitochondrial inheritance (HP:0001427)	3.24339824
12	Lipid accumulation in hepatocytes (HP:0006561)	3.12204595
13	Abnormality of the labia minora (HP:0012880)	3.06049499
14	Generalized aminoaciduria (HP:0002909)	3.04807614
15	Acute necrotizing encephalopathy (HP:0006965)	2.86791109
16	Hyperglycinemia (HP:0002154)	2.84678890
17	Supernumerary spleens (HP:0009799)	2.81259844
18	Increased CSF lactate (HP:0002490)	2.80303692
19	Attenuation of retinal blood vessels (HP:0007843)	2.79192455
20	Acute encephalopathy (HP:0006846)	2.74930124
21	Hepatic necrosis (HP:0002605)	2.72674200
22	Septo-optic dysplasia (HP:0100842)	2.66720039
23	Anencephaly (HP:0002323)	2.64996532
24	Upper limb muscle weakness (HP:0003484)	2.61260177
25	Type II lissencephaly (HP:0007260)	2.53457499
26	Sclerocornea (HP:0000647)	2.45229018
27	Abnormal mitochondria in muscle tissue (HP:0008316)	2.38095176
28	Bilateral microphthalmos (HP:0007633)	2.36943216
29	Abnormal respiratory motile cilium morphology (HP:0005938)	2.36385927
30	Abnormal respiratory epithelium morphology (HP:0012253)	2.36385927
31	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.36215192
32	Postaxial foot polydactyly (HP:0001830)	2.33619001
33	Optic nerve hypoplasia (HP:0000609)	2.32566732
34	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.32136354
35	Short tibia (HP:0005736)	2.31920982
36	Glycosuria (HP:0003076)	2.31253890
37	Abnormality of urine glucose concentration (HP:0011016)	2.31253890
38	Medial flaring of the eyebrow (HP:0010747)	2.30716889
39	Congenital primary aphakia (HP:0007707)	2.30665179
40	Cerebral edema (HP:0002181)	2.27574385
41	Abnormality of the ileum (HP:0001549)	2.26983511
42	Hypoplasia of the pons (HP:0012110)	2.25120625
43	Bony spicule pigmentary retinopathy (HP:0007737)	2.23805152
44	Anomalous pulmonary venous return (HP:0010772)	2.22774313
45	Meckel diverticulum (HP:0002245)	2.22095282
46	Abnormal respiratory motile cilium physiology (HP:0012261)	2.21495532
47	Gait imbalance (HP:0002141)	2.21446395
48	Cystic liver disease (HP:0006706)	2.21284296
49	Optic disc pallor (HP:0000543)	2.20508020
50	Abnormal ciliary motility (HP:0012262)	2.19632159
51	Abnormal rod and cone electroretinograms (HP:0008323)	2.18151922
52	Aplastic anemia (HP:0001915)	2.15620944
53	Progressive macrocephaly (HP:0004481)	2.13630843
54	Nephrogenic diabetes insipidus (HP:0009806)	2.13310261
55	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.12160051
56	Absent septum pellucidum (HP:0001331)	2.11638053
57	CNS demyelination (HP:0007305)	2.11604370
58	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.10538550
59	Maternal diabetes (HP:0009800)	2.10314853
60	Abnormality of serum amino acid levels (HP:0003112)	2.08414274
61	Vaginal atresia (HP:0000148)	2.08326271
62	Inability to walk (HP:0002540)	2.07841148
63	Abnormality of the pons (HP:0007361)	2.06947598
64	Pendular nystagmus (HP:0012043)	2.06729340
65	Genital tract atresia (HP:0001827)	2.06346613
66	Abnormality of renal resorption (HP:0011038)	2.04579983
67	Male pseudohermaphroditism (HP:0000037)	2.01328111
68	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.01053688
69	Patellar aplasia (HP:0006443)	2.00439303
70	Fibular aplasia (HP:0002990)	1.99186278
71	Polydipsia (HP:0001959)	1.98973507
72	Abnormal drinking behavior (HP:0030082)	1.98973507
73	Increased serum lactate (HP:0002151)	1.91636712
74	Postaxial hand polydactyly (HP:0001162)	1.89819494
75	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.89489813
76	Abnormality of glycine metabolism (HP:0010895)	1.88708366
77	Abnormality of serine family amino acid metabolism (HP:0010894)	1.88708366
78	Abnormality of the preputium (HP:0100587)	1.88412598
79	Preaxial hand polydactyly (HP:0001177)	1.87170281
80	Lissencephaly (HP:0001339)	1.86763826
81	Intestinal atresia (HP:0011100)	1.86654850
82	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.86395790
83	Exertional dyspnea (HP:0002875)	1.86217869
84	Absent forearm bone (HP:0003953)	1.86017257
85	Aplasia involving forearm bones (HP:0009822)	1.86017257
86	Hypoproteinemia (HP:0003075)	1.86001680
87	Holoprosencephaly (HP:0001360)	1.85332118
88	Abnormality of the ischium (HP:0003174)	1.85206433
89	Abnormality of the pulmonary veins (HP:0011718)	1.85176398
90	Confusion (HP:0001289)	1.83732783
91	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.83422740
92	Polyuria (HP:0000103)	1.81812516
93	Hypoplastic ischia (HP:0003175)	1.81134663
94	Absent radius (HP:0003974)	1.79998896
95	Hypoplastic pelvis (HP:0008839)	1.79815144
96	Hyponatremia (HP:0002902)	1.79789411
97	Congenital stationary night blindness (HP:0007642)	1.79342324
98	Severe visual impairment (HP:0001141)	1.79149491
99	Aplasia/Hypoplasia of the patella (HP:0006498)	1.78182872
100	Lactic acidosis (HP:0003128)	1.75296924

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	3.85402613
2	PLK4	3.78276770
3	ZAK	3.20148001
4	EPHB1	2.98355793
5	VRK1	2.80580648
6	TXK	2.66989197
7	WNK3	2.49415181
8	WEE1	2.49340238
9	TLK1	2.25012133
10	BUB1	2.19478102
11	KDR	2.13802537
12	STK38L	2.12344387
13	TESK2	2.03214561
14	PLK2	1.99893673
15	UHMK1	1.96321467
16	TESK1	1.95403948
17	SRPK1	1.93039797
18	INSRR	1.86541453
19	ERBB3	1.85271490
20	BCR	1.84474242
21	BRD4	1.79337486
22	TSSK6	1.77623227
23	PNCK	1.71469490
24	NEK1	1.68555360
25	PLK3	1.68115184
26	BRSK2	1.50222259
27	VRK2	1.49019696
28	BMPR1B	1.44839975
29	MAP3K4	1.28399213
30	GRK1	1.27752029
31	EPHA2	1.26004619
32	EIF2AK3	1.17712230
33	ADRBK2	1.15063101
34	NUAK1	1.11335365
35	PLK1	1.10545429
36	BCKDK	1.05141376
37	EPHA4	1.01030613
38	BRSK1	0.99520386
39	TNIK	0.99502600
40	FRK	0.99343125
41	CDC7	0.98058547
42	STK3	0.83967477
43	TTK	0.83285833
44	CSNK1G3	0.77760369
45	CHUK	0.77155637
46	CDK19	0.73000414
47	OXSR1	0.71794056
48	MAPK13	0.70141351
49	AURKB	0.68958038
50	CSNK1G1	0.68569357
51	MKNK2	0.67484706
52	LMTK2	0.66937039
53	PBK	0.66523665
54	NME1	0.66323577
55	CHEK2	0.65780182
56	GRK6	0.65070208
57	PKN1	0.64176287
58	CDK12	0.63751475
59	TEC	0.63406760
60	ERBB2	0.61202960
61	MKNK1	0.59991933
62	NEK2	0.59329990
63	DYRK2	0.58725966
64	ATR	0.58649763
65	LATS1	0.58626073
66	CSNK1G2	0.57558680
67	MST1R	0.56750749
68	CDK7	0.53552361
69	CSNK1A1L	0.51732313
70	TRIM28	0.51391946
71	KSR1	0.50288178
72	LIMK1	0.50081187
73	ERBB4	0.49362737
74	CASK	0.48848667
75	CSNK2A1	0.48685460
76	MINK1	0.47277330
77	CSNK1A1	0.46983492
78	NEK9	0.46911525
79	PRKCG	0.46595522
80	MARK1	0.44846036
81	TGFBR1	0.44286079
82	MAPK15	0.43298277
83	GRK5	0.42104786
84	BRAF	0.41962940
85	STK39	0.40457257
86	OBSCN	0.40360133
87	CAMK2A	0.40252955
88	AURKA	0.39977189
89	EIF2AK1	0.39669271
90	CSNK1D	0.37279321
91	FGFR1	0.37151352
92	PRKCE	0.36983950
93	NLK	0.35350638
94	DDR2	0.33696090
95	MST4	0.33530043
96	RPS6KA5	0.32459910
97	ADRBK1	0.32184888
98	PIM1	0.31945505
99	DAPK2	0.31276700
100	PTK2B	0.30656956

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	5.78058192
2	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	3.30494382
3	Proteasome_Homo sapiens_hsa03050	3.24571070
4	Oxidative phosphorylation_Homo sapiens_hsa00190	2.80949339
5	Butanoate metabolism_Homo sapiens_hsa00650	2.65233399
6	Parkinsons disease_Homo sapiens_hsa05012	2.30996349
7	Protein export_Homo sapiens_hsa03060	2.19422859
8	RNA polymerase_Homo sapiens_hsa03020	2.12513319
9	Steroid biosynthesis_Homo sapiens_hsa00100	2.04722477
10	RNA degradation_Homo sapiens_hsa03018	1.95957323
11	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.93230037
12	Basal transcription factors_Homo sapiens_hsa03022	1.91581601
13	Propanoate metabolism_Homo sapiens_hsa00640	1.89240147
14	Sulfur metabolism_Homo sapiens_hsa00920	1.81163700
15	One carbon pool by folate_Homo sapiens_hsa00670	1.80214300
16	Spliceosome_Homo sapiens_hsa03040	1.75667437
17	Selenocompound metabolism_Homo sapiens_hsa00450	1.71263188
18	Homologous recombination_Homo sapiens_hsa03440	1.70437997
19	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.69027230
20	Huntingtons disease_Homo sapiens_hsa05016	1.68413820
21	Phototransduction_Homo sapiens_hsa04744	1.56043026
22	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.52530848
23	RNA transport_Homo sapiens_hsa03013	1.48279240
24	Primary immunodeficiency_Homo sapiens_hsa05340	1.47406623
25	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.46118229
26	Caffeine metabolism_Homo sapiens_hsa00232	1.44650641
27	Fanconi anemia pathway_Homo sapiens_hsa03460	1.43068976
28	Alzheimers disease_Homo sapiens_hsa05010	1.42951472
29	Nicotine addiction_Homo sapiens_hsa05033	1.41535109
30	DNA replication_Homo sapiens_hsa03030	1.38716954
31	Linoleic acid metabolism_Homo sapiens_hsa00591	1.32272807
32	Nitrogen metabolism_Homo sapiens_hsa00910	1.30141117
33	Cardiac muscle contraction_Homo sapiens_hsa04260	1.28459284
34	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.24888293
35	Base excision repair_Homo sapiens_hsa03410	1.22326321
36	Mismatch repair_Homo sapiens_hsa03430	1.19612423
37	Olfactory transduction_Homo sapiens_hsa04740	1.15609698
38	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.13216900
39	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.12877549
40	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.10745023
41	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.08261334
42	Pyrimidine metabolism_Homo sapiens_hsa00240	1.08076583
43	Taste transduction_Homo sapiens_hsa04742	1.07175045
44	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.07128582
45	Ribosome_Homo sapiens_hsa03010	0.95858625
46	Purine metabolism_Homo sapiens_hsa00230	0.94214130
47	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.89957535
48	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.88091075
49	Fat digestion and absorption_Homo sapiens_hsa04975	0.84479502
50	Tryptophan metabolism_Homo sapiens_hsa00380	0.84073595
51	Nucleotide excision repair_Homo sapiens_hsa03420	0.83580214
52	Fatty acid metabolism_Homo sapiens_hsa01212	0.81478176
53	mRNA surveillance pathway_Homo sapiens_hsa03015	0.79564052
54	Tyrosine metabolism_Homo sapiens_hsa00350	0.75446712
55	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.70190166
56	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.67501187
57	Phenylalanine metabolism_Homo sapiens_hsa00360	0.66218414
58	Oocyte meiosis_Homo sapiens_hsa04114	0.66111286
59	Cell cycle_Homo sapiens_hsa04110	0.63333186
60	Pyruvate metabolism_Homo sapiens_hsa00620	0.62715109
61	Antigen processing and presentation_Homo sapiens_hsa04612	0.61452174
62	Histidine metabolism_Homo sapiens_hsa00340	0.61147940
63	Fatty acid degradation_Homo sapiens_hsa00071	0.60805665
64	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.60784634
65	Retinol metabolism_Homo sapiens_hsa00830	0.57868609
66	Metabolic pathways_Homo sapiens_hsa01100	0.57483572
67	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.53987020
68	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.53354783
69	Sulfur relay system_Homo sapiens_hsa04122	0.53170302
70	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.50492679
71	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.47320335
72	Non-homologous end-joining_Homo sapiens_hsa03450	0.46498139
73	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.45488237
74	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.44838975
75	Collecting duct acid secretion_Homo sapiens_hsa04966	0.44759591
76	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.42284631
77	Regulation of autophagy_Homo sapiens_hsa04140	0.42217508
78	beta-Alanine metabolism_Homo sapiens_hsa00410	0.41420390
79	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.40059087
80	Peroxisome_Homo sapiens_hsa04146	0.39853768
81	Ether lipid metabolism_Homo sapiens_hsa00565	0.39040350
82	Fatty acid elongation_Homo sapiens_hsa00062	0.38448938
83	Chemical carcinogenesis_Homo sapiens_hsa05204	0.37482560
84	Alcoholism_Homo sapiens_hsa05034	0.36705919
85	Glutamatergic synapse_Homo sapiens_hsa04724	0.36316788
86	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.36113427
87	p53 signaling pathway_Homo sapiens_hsa04115	0.35529489
88	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.33796131
89	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.33560785
90	Graft-versus-host disease_Homo sapiens_hsa05332	0.32483681
91	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.31698752
92	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.30412551
93	Basal cell carcinoma_Homo sapiens_hsa05217	0.30263952
94	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.28215307
95	Salivary secretion_Homo sapiens_hsa04970	0.27680708
96	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.25840862
97	Hippo signaling pathway_Homo sapiens_hsa04390	0.25118974
98	Mineral absorption_Homo sapiens_hsa04978	0.24833335
99	Shigellosis_Homo sapiens_hsa05131	0.23826834
100	Allograft rejection_Homo sapiens_hsa05330	0.23661659

BTF3L4P1

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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