ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	piRNA metabolic process (GO:0034587)	7.88556188
2	resolution of meiotic recombination intermediates (GO:0000712)	7.23024433
3	DNA methylation involved in gamete generation (GO:0043046)	6.49447573
4	meiotic chromosome segregation (GO:0045132)	5.22330623
5	positive regulation of dendritic spine morphogenesis (GO:0061003)	4.48657823
6	acrosome assembly (GO:0001675)	4.38503582
7	pyrimidine nucleobase catabolic process (GO:0006208)	4.17021783
8	presynaptic membrane assembly (GO:0097105)	4.03798361
9	pyrimidine dimer repair (GO:0006290)	3.98538659
10	gene silencing by RNA (GO:0031047)	3.63660319
11	synapsis (GO:0007129)	3.57985876
12	DNA double-strand break processing (GO:0000729)	3.50256200
13	presynaptic membrane organization (GO:0097090)	3.46705212
14	positive regulation of mitochondrial fission (GO:0090141)	3.44000939
15	cerebral cortex radially oriented cell migration (GO:0021799)	3.40607306
16	male meiosis (GO:0007140)	3.32488007
17	nucleobase catabolic process (GO:0046113)	3.31879995
18	male meiosis I (GO:0007141)	3.16398082
19	nuclear pore complex assembly (GO:0051292)	3.13072499
20	DNA alkylation (GO:0006305)	3.10017177
21	DNA methylation (GO:0006306)	3.10017177
22	proteasome assembly (GO:0043248)	3.02694948
23	nuclear pore organization (GO:0006999)	3.01222751
24	tRNA methylation (GO:0030488)	3.00667697
25	regulation of mitotic spindle checkpoint (GO:1903504)	2.94226830
26	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.94226830
27	meiotic cell cycle (GO:0051321)	2.93315514
28	limb bud formation (GO:0060174)	2.86472568
29	replication fork processing (GO:0031297)	2.85729311
30	chromosome organization involved in meiosis (GO:0070192)	2.83685877
31	regulation of meiosis I (GO:0060631)	2.83173002
32	regulation of histone H3-K9 methylation (GO:0051570)	2.82930252
33	reciprocal meiotic recombination (GO:0007131)	2.80270805
34	reciprocal DNA recombination (GO:0035825)	2.80270805
35	gonadal mesoderm development (GO:0007506)	2.74660730
36	protein localization to kinetochore (GO:0034501)	2.69223860
37	DNA replication checkpoint (GO:0000076)	2.66010415
38	tRNA aminoacylation for protein translation (GO:0006418)	2.65510403
39	amino acid activation (GO:0043038)	2.65167347
40	tRNA aminoacylation (GO:0043039)	2.65167347
41	protein K11-linked ubiquitination (GO:0070979)	2.65151869
42	synaptonemal complex assembly (GO:0007130)	2.65088516
43	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.64898861
44	chromatin remodeling at centromere (GO:0031055)	2.64515605
45	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.63797176
46	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.63797176
47	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.61905524
48	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.61905524
49	meiotic cell cycle process (GO:1903046)	2.61850783
50	CENP-A containing nucleosome assembly (GO:0034080)	2.60932417
51	meiosis I (GO:0007127)	2.60650436
52	centriole assembly (GO:0098534)	2.58038751
53	regulation of DNA endoreduplication (GO:0032875)	2.58035949
54	L-serine metabolic process (GO:0006563)	2.58005049
55	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.56085668
56	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.56085668
57	NADH dehydrogenase complex assembly (GO:0010257)	2.56085668
58	synaptonemal complex organization (GO:0070193)	2.55013035
59	cilium or flagellum-dependent cell motility (GO:0001539)	2.51501195
60	microtubule depolymerization (GO:0007019)	2.50789940
61	mitotic metaphase plate congression (GO:0007080)	2.50015427
62	nucleotide transmembrane transport (GO:1901679)	2.49724354
63	single strand break repair (GO:0000012)	2.49587382
64	mitotic sister chromatid cohesion (GO:0007064)	2.48035285
65	ubiquinone metabolic process (GO:0006743)	2.47080480
66	mitotic spindle checkpoint (GO:0071174)	2.45090141
67	tyrosine phosphorylation of STAT protein (GO:0007260)	2.44673927
68	mitochondrial RNA metabolic process (GO:0000959)	2.44541505
69	response to pheromone (GO:0019236)	2.44079644
70	DNA methylation or demethylation (GO:0044728)	2.43694623
71	spindle checkpoint (GO:0031577)	2.43092548
72	base-excision repair, AP site formation (GO:0006285)	2.42047490
73	inositol metabolic process (GO:0006020)	2.41622537
74	nucleotide-excision repair, DNA gap filling (GO:0006297)	2.39969639
75	ribonucleoprotein complex disassembly (GO:0032988)	2.39740721
76	DNA damage response, detection of DNA damage (GO:0042769)	2.34516559
77	DNA integration (GO:0015074)	2.34247101
78	meiotic nuclear division (GO:0007126)	2.32689849
79	metaphase plate congression (GO:0051310)	2.32491158
80	DNA catabolic process, exonucleolytic (GO:0000738)	2.32249193
81	gene silencing (GO:0016458)	2.32187457
82	pore complex assembly (GO:0046931)	2.32089997
83	cerebral cortex cell migration (GO:0021795)	2.31665982
84	lysine metabolic process (GO:0006553)	2.30876542
85	lysine catabolic process (GO:0006554)	2.30876542
86	regulation of non-canonical Wnt signaling pathway (GO:2000050)	2.30476123
87	pre-miRNA processing (GO:0031054)	2.30073262
88	spindle assembly checkpoint (GO:0071173)	2.30020681
89	positive regulation of dendrite morphogenesis (GO:0050775)	2.29117057
90	midgut development (GO:0007494)	2.26546275
91	IMP biosynthetic process (GO:0006188)	2.25928524
92	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.24902426
93	negative regulation of mitotic sister chromatid separation (GO:2000816)	2.23635180
94	negative regulation of sister chromatid segregation (GO:0033046)	2.23635180
95	negative regulation of mitotic metaphase/anaphase transition (GO:0045841)	2.23635180
96	negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)	2.23635180
97	negative regulation of mitotic sister chromatid segregation (GO:0033048)	2.23635180
98	tRNA metabolic process (GO:0006399)	2.23540191
99	nonmotile primary cilium assembly (GO:0035058)	2.22370776
100	aspartate family amino acid biosynthetic process (GO:0009067)	2.22031641

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	RBPJ_22232070_ChIP-Seq_NCS_Mouse	4.24160884
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.71584211
3	IGF1R_20145208_ChIP-Seq_DFB_Human	3.26003179
4	TAF15_26573619_Chip-Seq_HEK293_Human	3.16764227
5	ZNF274_21170338_ChIP-Seq_K562_Hela	3.08208319
6	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.97589952
7	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.78609986
8	FUS_26573619_Chip-Seq_HEK293_Human	2.48767812
9	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.48350663
10	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.41018726
11	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.40571896
12	VDR_22108803_ChIP-Seq_LS180_Human	2.39436018
13	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.35196061
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.26643048
15	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.22361162
16	ELK1_19687146_ChIP-ChIP_HELA_Human	2.21945006
17	EWS_26573619_Chip-Seq_HEK293_Human	2.18393338
18	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.16165239
19	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.07211908
20	E2F7_22180533_ChIP-Seq_HELA_Human	2.04362029
21	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.02088035
22	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.99480007
23	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.99002097
24	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.94476389
25	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.94350605
26	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.94185084
27	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.93107519
28	GBX2_23144817_ChIP-Seq_PC3_Human	1.89675865
29	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.89297608
30	DCP1A_22483619_ChIP-Seq_HELA_Human	1.85362787
31	VDR_23849224_ChIP-Seq_CD4+_Human	1.80988913
32	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.73271459
33	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.69073213
34	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.68457811
35	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.65118403
36	EZH2_22144423_ChIP-Seq_EOC_Human	1.64247344
37	MYC_18940864_ChIP-ChIP_HL60_Human	1.64245369
38	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.63391067
39	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.62824454
40	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.62346340
41	P300_19829295_ChIP-Seq_ESCs_Human	1.59775230
42	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.58500115
43	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.57058706
44	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.56295812
45	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.53552906
46	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.52503558
47	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.47932444
48	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.46603578
49	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.41480109
50	FOXP3_21729870_ChIP-Seq_TREG_Human	1.40685731
51	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.39703764
52	RNF2_27304074_Chip-Seq_NSC_Mouse	1.37128096
53	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.35512896
54	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.33762644
55	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.31617631
56	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.29828373
57	TTF2_22483619_ChIP-Seq_HELA_Human	1.27686538
58	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.27309794
59	ER_23166858_ChIP-Seq_MCF-7_Human	1.26345855
60	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.26004634
61	* IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.23397980
62	* CBP_20019798_ChIP-Seq_JUKART_Human	1.23397980
63	GABP_19822575_ChIP-Seq_HepG2_Human	1.23140767
64	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.22368342
65	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.21846440
66	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.19378097
67	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.15260199
68	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.15136804
69	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.14940430
70	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.14619930
71	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.14528188
72	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.13758553
73	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.11414329
74	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.10424416
75	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.10067070
76	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.09668683
77	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.09490754
78	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.08637760
79	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.07270597
80	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.06178306
81	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.05834804
82	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.05610593
83	RUNX2_22187159_ChIP-Seq_PCA_Human	1.04403059
84	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.04380572
85	SMAD4_21799915_ChIP-Seq_A2780_Human	1.04169155
86	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.03450726
87	XRN2_22483619_ChIP-Seq_HELA_Human	1.02954710
88	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.02733720
89	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.01412877
90	MYC_19079543_ChIP-ChIP_MESCs_Mouse	0.99354295
91	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	0.98624137
92	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.97989934
93	STAT3_23295773_ChIP-Seq_U87_Human	0.97384375
94	SOX9_26525672_Chip-Seq_HEART_Mouse	0.97046901
95	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.96231350
96	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.93670812
97	TP53_22573176_ChIP-Seq_HFKS_Human	0.92375355
98	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.90898694
99	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.89529206
100	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.88697869

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	4.52370952
2	MP0008995_early_reproductive_senescence	3.18143568
3	MP0008058_abnormal_DNA_repair	2.91671113
4	MP0001529_abnormal_vocalization	2.31774231
5	MP0006292_abnormal_olfactory_placode	2.20363449
6	MP0010094_abnormal_chromosome_stability	2.18833957
7	MP0001984_abnormal_olfaction	2.09150843
8	MP0000778_abnormal_nervous_system	1.96007490
9	MP0003693_abnormal_embryo_hatching	1.91181533
10	MP0000647_abnormal_sebaceous_gland	1.90873790
11	MP0002210_abnormal_sex_determination	1.85520182
12	MP0004270_analgesia	1.84940148
13	MP0003786_premature_aging	1.77393761
14	MP0001929_abnormal_gametogenesis	1.73350924
15	MP0003890_abnormal_embryonic-extraembry	1.68131162
16	MP0004957_abnormal_blastocyst_morpholog	1.67798387
17	MP0003718_maternal_effect	1.62544073
18	MP0002102_abnormal_ear_morphology	1.60950046
19	MP0003937_abnormal_limbs/digits/tail_de	1.60506570
20	MP0003698_abnormal_male_reproductive	1.59218339
21	MP0003119_abnormal_digestive_system	1.57526569
22	MP0008932_abnormal_embryonic_tissue	1.56798622
23	MP0003077_abnormal_cell_cycle	1.56510686
24	MP0006276_abnormal_autonomic_nervous	1.55880027
25	MP0009697_abnormal_copulation	1.50097932
26	MP0003567_abnormal_fetal_cardiomyocyte	1.48417532
27	MP0001145_abnormal_male_reproductive	1.47905537
28	MP0003880_abnormal_central_pattern	1.45304765
29	MP0001293_anophthalmia	1.41922494
30	MP0000653_abnormal_sex_gland	1.40198508
31	MP0000516_abnormal_urinary_system	1.39747717
32	MP0005367_renal/urinary_system_phenotyp	1.39747717
33	MP0008007_abnormal_cellular_replicative	1.38932341
34	MP0006072_abnormal_retinal_apoptosis	1.36485924
35	MP0008789_abnormal_olfactory_epithelium	1.35583800
36	MP0005187_abnormal_penis_morphology	1.29908250
37	MP0006035_abnormal_mitochondrial_morpho	1.27806136
38	MP0005253_abnormal_eye_physiology	1.26401654
39	MP0002751_abnormal_autonomic_nervous	1.25328532
40	MP0001919_abnormal_reproductive_system	1.22393518
41	MP0002160_abnormal_reproductive_system	1.20501174
42	MP0003111_abnormal_nucleus_morphology	1.15154785
43	MP0002736_abnormal_nociception_after	1.14510792
44	MP0002233_abnormal_nose_morphology	1.14197476
45	MP0003755_abnormal_palate_morphology	1.12644332
46	MP0003385_abnormal_body_wall	1.12067598
47	MP0002938_white_spotting	1.10650511
48	MP0010030_abnormal_orbit_morphology	1.09924860
49	MP0000427_abnormal_hair_cycle	1.08944061
50	MP0002822_catalepsy	1.08571315
51	MP0005499_abnormal_olfactory_system	1.07839274
52	MP0005394_taste/olfaction_phenotype	1.07839274
53	MP0003121_genomic_imprinting	1.07532211
54	MP0003861_abnormal_nervous_system	1.05070266
55	MP0005389_reproductive_system_phenotype	1.02752346
56	MP0005551_abnormal_eye_electrophysiolog	1.02736475
57	MP0002084_abnormal_developmental_patter	1.01438222
58	MP0004885_abnormal_endolymph	1.01035680
59	MP0003136_yellow_coat_color	1.00309751
60	MP0004145_abnormal_muscle_electrophysio	0.99435724
61	MP0001727_abnormal_embryo_implantation	0.96750634
62	MP0000358_abnormal_cell_content/	0.96047459
63	MP0003935_abnormal_craniofacial_develop	0.95859516
64	MP0001286_abnormal_eye_development	0.95586755
65	MP0003011_delayed_dark_adaptation	0.94643610
66	MP0004197_abnormal_fetal_growth/weight/	0.93997830
67	MP0001730_embryonic_growth_arrest	0.91608966
68	MP0008057_abnormal_DNA_replication	0.91365959
69	MP0005380_embryogenesis_phenotype	0.90900369
70	MP0001672_abnormal_embryogenesis/_devel	0.90900369
71	MP0002161_abnormal_fertility/fecundity	0.90670140
72	MP0000631_abnormal_neuroendocrine_gland	0.90351748
73	MP0008770_decreased_survivor_rate	0.89984950
74	MP0009703_decreased_birth_body	0.89760415
75	MP0002085_abnormal_embryonic_tissue	0.89658521
76	MP0004924_abnormal_behavior	0.88964010
77	MP0005386_behavior/neurological_phenoty	0.88964010
78	MP0005391_vision/eye_phenotype	0.88613753
79	MP0003941_abnormal_skin_development	0.88164150
80	MP0002638_abnormal_pupillary_reflex	0.87762195
81	MP0001340_abnormal_eyelid_morphology	0.87002968
82	MP0001697_abnormal_embryo_size	0.86705149
83	MP0002184_abnormal_innervation	0.86473332
84	MP0000383_abnormal_hair_follicle	0.86297396
85	MP0002088_abnormal_embryonic_growth/wei	0.85831387
86	MP0004859_abnormal_synaptic_plasticity	0.85505028
87	MP0001119_abnormal_female_reproductive	0.84027094
88	MP0003984_embryonic_growth_retardation	0.82923873
89	MP0005410_abnormal_fertilization	0.82461056
90	MP0004133_heterotaxia	0.82292454
91	MP0001299_abnormal_eye_distance/	0.82181999
92	MP0002234_abnormal_pharynx_morphology	0.79666747
93	MP0003635_abnormal_synaptic_transmissio	0.78862807
94	MP0010678_abnormal_skin_adnexa	0.77950830
95	MP0002697_abnormal_eye_size	0.77677773
96	MP0003656_abnormal_erythrocyte_physiolo	0.76201803
97	MP0000049_abnormal_middle_ear	0.75366291
98	MP0002653_abnormal_ependyma_morphology	0.75177102
99	MP0002752_abnormal_somatic_nervous	0.74510356
100	MP0005646_abnormal_pituitary_gland	0.74375599

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Cortical dysplasia (HP:0002539)	4.32280923
2	Gonadotropin excess (HP:0000837)	3.34507604
3	Shoulder girdle muscle weakness (HP:0003547)	3.10461579
4	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.83401791
5	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.83234908
6	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.81431265
7	Abnormality of alanine metabolism (HP:0010916)	2.81431265
8	Hyperalaninemia (HP:0003348)	2.81431265
9	Meckel diverticulum (HP:0002245)	2.80562539
10	Medial flaring of the eyebrow (HP:0010747)	2.77790058
11	Abnormality of the ileum (HP:0001549)	2.69835841
12	Chromsome breakage (HP:0040012)	2.65577029
13	Congenital primary aphakia (HP:0007707)	2.62717010
14	Nephrogenic diabetes insipidus (HP:0009806)	2.61360951
15	Abnormality of chromosome stability (HP:0003220)	2.61031191
16	Gait imbalance (HP:0002141)	2.60269593
17	Abnormality of DNA repair (HP:0003254)	2.57479527
18	Abnormality of the lower motor neuron (HP:0002366)	2.54681636
19	Hypoplastic pelvis (HP:0008839)	2.53915265
20	Tubulointerstitial nephritis (HP:0001970)	2.38843207
21	Volvulus (HP:0002580)	2.37856926
22	Abnormality of the preputium (HP:0100587)	2.36430015
23	Abnormality of the labia minora (HP:0012880)	2.34047026
24	Small intestinal stenosis (HP:0012848)	2.30142865
25	Duodenal stenosis (HP:0100867)	2.30142865
26	High anterior hairline (HP:0009890)	2.29943678
27	Poor coordination (HP:0002370)	2.29560735
28	Hyperglycinemia (HP:0002154)	2.29410607
29	Abnormality of serum amino acid levels (HP:0003112)	2.22926326
30	Microvesicular hepatic steatosis (HP:0001414)	2.21979308
31	Abnormality of glycolysis (HP:0004366)	2.19338017
32	Increased serum pyruvate (HP:0003542)	2.15456185
33	Methylmalonic acidemia (HP:0002912)	2.13022087
34	Amyotrophic lateral sclerosis (HP:0007354)	2.12290362
35	Genital tract atresia (HP:0001827)	2.10983239
36	Poor suck (HP:0002033)	2.10927237
37	Abnormal lung lobation (HP:0002101)	2.10127932
38	Vaginal atresia (HP:0000148)	2.08067413
39	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	2.05965160
40	Astigmatism (HP:0000483)	2.05502388
41	Stenosis of the external auditory canal (HP:0000402)	2.03105478
42	Rhabdomyosarcoma (HP:0002859)	1.99401485
43	Sloping forehead (HP:0000340)	1.97573182
44	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.97430336
45	Broad foot (HP:0001769)	1.95676993
46	Reticulocytosis (HP:0001923)	1.94664015
47	Cerebral edema (HP:0002181)	1.93349759
48	Atrophy/Degeneration involving motor neurons (HP:0007373)	1.93323724
49	Renal cortical cysts (HP:0000803)	1.90155840
50	Abnormality of the duodenum (HP:0002246)	1.88535449
51	Rimmed vacuoles (HP:0003805)	1.88006780
52	Colon cancer (HP:0003003)	1.87194693
53	Abnormality of serine family amino acid metabolism (HP:0010894)	1.85565195
54	Abnormality of glycine metabolism (HP:0010895)	1.85565195
55	Type II lissencephaly (HP:0007260)	1.85273084
56	Increased serum lactate (HP:0002151)	1.85024991
57	Abnormality of reticulocytes (HP:0004312)	1.84836608
58	Acute necrotizing encephalopathy (HP:0006965)	1.84464978
59	Progressive macrocephaly (HP:0004481)	1.83938447
60	True hermaphroditism (HP:0010459)	1.83568170
61	Abnormality of methionine metabolism (HP:0010901)	1.82317881
62	Lissencephaly (HP:0001339)	1.79452064
63	Increased CSF lactate (HP:0002490)	1.78952689
64	Abnormality of the carotid arteries (HP:0005344)	1.77808827
65	Abnormal mitochondria in muscle tissue (HP:0008316)	1.77752681
66	Triphalangeal thumb (HP:0001199)	1.75844946
67	Long foot (HP:0001833)	1.73966268
68	Pancreatic fibrosis (HP:0100732)	1.72535990
69	Pachygyria (HP:0001302)	1.72402449
70	Ectopic kidney (HP:0000086)	1.71140368
71	Retinal dysplasia (HP:0007973)	1.70798895
72	Optic nerve hypoplasia (HP:0000609)	1.70300948
73	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.69427697
74	Medulloblastoma (HP:0002885)	1.68773066
75	Neoplasm of the adrenal cortex (HP:0100641)	1.68118955
76	Aganglionic megacolon (HP:0002251)	1.67798492
77	Abnormality of vitamin B metabolism (HP:0004340)	1.66706706
78	Clubbing of toes (HP:0100760)	1.66583976
79	Acute encephalopathy (HP:0006846)	1.65982372
80	Atonic seizures (HP:0010819)	1.64983765
81	Irregular epiphyses (HP:0010582)	1.64784412
82	Vitreoretinal degeneration (HP:0000655)	1.64227175
83	Reticulocytopenia (HP:0001896)	1.64089858
84	Nephroblastoma (Wilms tumor) (HP:0002667)	1.62918929
85	Prominent nasal bridge (HP:0000426)	1.60551850
86	Pancreatic cysts (HP:0001737)	1.59411044
87	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.58979979
88	Deep philtrum (HP:0002002)	1.58346327
89	Delayed myelination (HP:0012448)	1.57518123
90	Increased nuchal translucency (HP:0010880)	1.56938343
91	Hypoplasia of the pons (HP:0012110)	1.56020368
92	Small hand (HP:0200055)	1.55907189
93	Hypoplasia of the brainstem (HP:0002365)	1.53764877
94	Aplasia/Hypoplasia of the brainstem (HP:0007362)	1.53764877
95	Embryonal renal neoplasm (HP:0011794)	1.53619151
96	Hepatocellular necrosis (HP:0001404)	1.53125042
97	Multicystic kidney dysplasia (HP:0000003)	1.52062498
98	Abnormality of the renal collecting system (HP:0004742)	1.51828978
99	Cerebellar dysplasia (HP:0007033)	1.50898485
100	Protruding tongue (HP:0010808)	1.50770517

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MUSK	4.24538484
2	CASK	2.86341673
3	MAP2K7	2.63559318
4	WNK3	2.59146194
5	MAP3K4	2.50969577
6	MKNK2	2.31138144
7	EIF2AK3	2.27494309
8	FRK	2.23553648
9	TTK	2.20079043
10	MKNK1	2.10525077
11	BMPR1B	2.07525810
12	MARK1	2.04141509
13	MAPK13	1.96488660
14	PBK	1.95488840
15	ACVR1B	1.83544587
16	BCR	1.80591114
17	TSSK6	1.79573544
18	PLK3	1.76811655
19	YES1	1.72067688
20	PDK2	1.63049174
21	SRPK1	1.61276519
22	DYRK2	1.61210011
23	MAP3K9	1.55547079
24	TRIM28	1.52956888
25	NUAK1	1.50914102
26	NEK1	1.50776868
27	PLK2	1.50140446
28	MAP4K2	1.48722014
29	IRAK2	1.48674611
30	TNIK	1.46186934
31	EIF2AK1	1.45401686
32	ZAK	1.45205397
33	ERBB3	1.43472628
34	PLK4	1.42743715
35	IRAK1	1.40943638
36	LATS1	1.28289484
37	WEE1	1.26009498
38	BUB1	1.20348563
39	PRKD3	1.16853488
40	CDC7	1.15900238
41	STK3	1.10238698
42	PINK1	1.08654111
43	PLK1	1.05954857
44	CSNK1G1	1.00962893
45	TESK2	1.00711610
46	CSNK1G2	0.96553687
47	VRK1	0.95742855
48	RPS6KB2	0.85996475
49	CCNB1	0.85315289
50	ATR	0.83442089
51	EPHB2	0.80944551
52	BRSK2	0.80129632
53	GRK1	0.79932732
54	ATM	0.78708090
55	FGFR2	0.78550568
56	TAF1	0.77376377
57	STK16	0.77089128
58	DYRK1A	0.76674605
59	MINK1	0.75404195
60	EPHA4	0.72917314
61	TGFBR1	0.70653835
62	RPS6KA4	0.67431795
63	MAP3K10	0.66671879
64	CHEK1	0.65853496
65	STK39	0.64959410
66	CSNK1G3	0.63720706
67	KSR2	0.61482093
68	INSRR	0.61437744
69	STK38L	0.57884631
70	BRSK1	0.56228005
71	DMPK	0.56130738
72	EIF2AK2	0.55635998
73	BRD4	0.55517363
74	TIE1	0.54014256
75	MAP3K6	0.53917590
76	CSNK1A1L	0.53450844
77	MET	0.52757495
78	CHEK2	0.52395394
79	NEK2	0.49798950
80	KSR1	0.48884613
81	RAF1	0.48775756
82	ALK	0.47464320
83	CDK1	0.47190943
84	AURKB	0.46903099
85	PRKCE	0.46511485
86	DYRK3	0.45553254
87	CLK1	0.45329496
88	CDK19	0.44249715
89	SIK3	0.43832441
90	FGFR1	0.40954935
91	CDK5	0.40296078
92	BCKDK	0.39994924
93	CSNK1E	0.39197812
94	STK24	0.38472966
95	CDK14	0.37297688
96	PRKCG	0.37031385
97	CSNK1A1	0.36113453
98	BRAF	0.36010179
99	CDK18	0.35547113
100	PAK3	0.34382231

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	3.13942025
2	Basal transcription factors_Homo sapiens_hsa03022	2.64101361
3	Mismatch repair_Homo sapiens_hsa03430	2.56873294
4	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.53382250
5	Propanoate metabolism_Homo sapiens_hsa00640	2.49794412
6	Fanconi anemia pathway_Homo sapiens_hsa03460	2.43923622
7	Proteasome_Homo sapiens_hsa03050	2.33052452
8	Steroid biosynthesis_Homo sapiens_hsa00100	2.19263986
9	Homologous recombination_Homo sapiens_hsa03440	2.16514394
10	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.09338907
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.98012621
12	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.93761092
13	Non-homologous end-joining_Homo sapiens_hsa03450	1.90907207
14	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.90587337
15	RNA polymerase_Homo sapiens_hsa03020	1.88982517
16	Protein export_Homo sapiens_hsa03060	1.87716353
17	Nucleotide excision repair_Homo sapiens_hsa03420	1.80701142
18	Pyruvate metabolism_Homo sapiens_hsa00620	1.79555806
19	RNA transport_Homo sapiens_hsa03013	1.79549974
20	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.74834550
21	Base excision repair_Homo sapiens_hsa03410	1.73698866
22	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.70566355
23	DNA replication_Homo sapiens_hsa03030	1.67540157
24	Fatty acid elongation_Homo sapiens_hsa00062	1.63865267
25	RNA degradation_Homo sapiens_hsa03018	1.63655304
26	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.51327726
27	Spliceosome_Homo sapiens_hsa03040	1.51134791
28	Nicotine addiction_Homo sapiens_hsa05033	1.49171370
29	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.33749879
30	mRNA surveillance pathway_Homo sapiens_hsa03015	1.33192812
31	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.31260011
32	Cell cycle_Homo sapiens_hsa04110	1.27307774
33	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.26129284
34	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.23266497
35	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.08457473
36	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.07423982
37	Phototransduction_Homo sapiens_hsa04744	1.07038788
38	One carbon pool by folate_Homo sapiens_hsa00670	1.06903536
39	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.01633336
40	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.01222231
41	Huntingtons disease_Homo sapiens_hsa05016	0.99733327
42	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.97184908
43	Butanoate metabolism_Homo sapiens_hsa00650	0.94319984
44	Parkinsons disease_Homo sapiens_hsa05012	0.92546639
45	Oocyte meiosis_Homo sapiens_hsa04114	0.90760293
46	Pyrimidine metabolism_Homo sapiens_hsa00240	0.89746268
47	Purine metabolism_Homo sapiens_hsa00230	0.89475164
48	Oxidative phosphorylation_Homo sapiens_hsa00190	0.89125181
49	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.88647457
50	Folate biosynthesis_Homo sapiens_hsa00790	0.88499515
51	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.87029017
52	Carbon metabolism_Homo sapiens_hsa01200	0.82096100
53	beta-Alanine metabolism_Homo sapiens_hsa00410	0.81808776
54	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.79066598
55	Ribosome_Homo sapiens_hsa03010	0.78508729
56	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.76483029
57	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.76278260
58	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.75479610
59	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.72775284
60	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.71073136
61	Hippo signaling pathway_Homo sapiens_hsa04390	0.67727377
62	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.65724132
63	Metabolic pathways_Homo sapiens_hsa01100	0.65575036
64	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.65497288
65	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.62039957
66	Taste transduction_Homo sapiens_hsa04742	0.60788781
67	Olfactory transduction_Homo sapiens_hsa04740	0.60595831
68	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.60397155
69	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.59670852
70	Axon guidance_Homo sapiens_hsa04360	0.58884931
71	Linoleic acid metabolism_Homo sapiens_hsa00591	0.57096949
72	Nitrogen metabolism_Homo sapiens_hsa00910	0.55475536
73	Regulation of autophagy_Homo sapiens_hsa04140	0.55260370
74	Adherens junction_Homo sapiens_hsa04520	0.54011233
75	Selenocompound metabolism_Homo sapiens_hsa00450	0.53085033
76	Tight junction_Homo sapiens_hsa04530	0.51543640
77	Circadian rhythm_Homo sapiens_hsa04710	0.50955462
78	GABAergic synapse_Homo sapiens_hsa04727	0.50670635
79	Peroxisome_Homo sapiens_hsa04146	0.50466569
80	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.50286077
81	Basal cell carcinoma_Homo sapiens_hsa05217	0.49735664
82	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.47644211
83	Fatty acid metabolism_Homo sapiens_hsa01212	0.46952115
84	Retinol metabolism_Homo sapiens_hsa00830	0.45491895
85	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.44576886
86	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.43465268
87	p53 signaling pathway_Homo sapiens_hsa04115	0.42641863
88	Caffeine metabolism_Homo sapiens_hsa00232	0.42546083
89	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.42538667
90	Sphingolipid metabolism_Homo sapiens_hsa00600	0.41123350
91	Wnt signaling pathway_Homo sapiens_hsa04310	0.39342557
92	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.36064886
93	Fat digestion and absorption_Homo sapiens_hsa04975	0.35244966
94	Glutamatergic synapse_Homo sapiens_hsa04724	0.33536486
95	Thyroid cancer_Homo sapiens_hsa05216	0.33029037
96	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.32737783
97	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.30786719
98	Glutathione metabolism_Homo sapiens_hsa00480	0.29669780
99	Tryptophan metabolism_Homo sapiens_hsa00380	0.28093669
100	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.27670340

ZNF311

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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