ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	DNA methylation involved in gamete generation (GO:0043046)	8.43212690
2	positive regulation of histone H3-K4 methylation (GO:0051571)	6.10957703
3	meiotic cell cycle (GO:0051321)	5.59928751
4	meiotic chromosome segregation (GO:0045132)	5.54013344
5	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	5.36811004
6	base-excision repair, AP site formation (GO:0006285)	4.76574253
7	pyrimidine nucleotide catabolic process (GO:0006244)	4.57701520
8	resolution of meiotic recombination intermediates (GO:0000712)	4.56155554
9	male meiosis (GO:0007140)	4.39776152
10	proteasome assembly (GO:0043248)	4.38579789
11	retinal cone cell development (GO:0046549)	4.19071128
12	gene silencing by RNA (GO:0031047)	4.09917677
13	synapsis (GO:0007129)	3.99773532
14	negative regulation of mast cell activation (GO:0033004)	3.98890272
15	platelet dense granule organization (GO:0060155)	3.91251172
16	centriole assembly (GO:0098534)	3.87903235
17	regulation of histone H3-K9 methylation (GO:0051570)	3.76638535
18	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.68387716
19	regulation of mitotic spindle checkpoint (GO:1903504)	3.68387716
20	attachment of spindle microtubules to kinetochore (GO:0008608)	3.67675776
21	synaptonemal complex assembly (GO:0007130)	3.61726377
22	metallo-sulfur cluster assembly (GO:0031163)	3.60900978
23	iron-sulfur cluster assembly (GO:0016226)	3.60900978
24	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.56650232
25	DNA methylation (GO:0006306)	3.56056211
26	DNA alkylation (GO:0006305)	3.56056211
27	regulation of meiosis I (GO:0060631)	3.52142507
28	chromosome organization involved in meiosis (GO:0070192)	3.52080372
29	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.51242082
30	male meiosis I (GO:0007141)	3.49736464
31	deoxyribonucleotide catabolic process (GO:0009264)	3.48056704
32	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.32332842
33	DNA deamination (GO:0045006)	3.31973379
34	ubiquinone biosynthetic process (GO:0006744)	3.28284413
35	DNA modification (GO:0006304)	3.24411055
36	gonadal mesoderm development (GO:0007506)	3.23261452
37	regulation of chromatin binding (GO:0035561)	3.22765023
38	cilium or flagellum-dependent cell motility (GO:0001539)	3.21438698
39	deoxyribose phosphate catabolic process (GO:0046386)	3.19738537
40	synaptonemal complex organization (GO:0070193)	3.17748946
41	centriole replication (GO:0007099)	3.17021224
42	regulation of female gonad development (GO:2000194)	3.16918162
43	cullin deneddylation (GO:0010388)	3.16676739
44	DNA methylation or demethylation (GO:0044728)	3.15513049
45	fatty acid elongation (GO:0030497)	3.13848339
46	protein heterotetramerization (GO:0051290)	3.11529891
47	protein deneddylation (GO:0000338)	3.09341529
48	regulation of DNA methylation (GO:0044030)	3.07583018
49	base-excision repair (GO:0006284)	3.05686797
50	rRNA catabolic process (GO:0016075)	3.03026291
51	meiotic nuclear division (GO:0007126)	3.02792519
52	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.01191567
53	mismatch repair (GO:0006298)	3.00070661
54	CENP-A containing nucleosome assembly (GO:0034080)	2.98806610
55	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.94386190
56	regulation of mitochondrial translation (GO:0070129)	2.93792445
57	protein complex biogenesis (GO:0070271)	2.93130771
58	ubiquinone metabolic process (GO:0006743)	2.91605016
59	nucleotide-excision repair, DNA gap filling (GO:0006297)	2.91341847
60	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.89770599
61	quinone biosynthetic process (GO:1901663)	2.89649795
62	positive regulation of natural killer cell differentiation (GO:0032825)	2.89222222
63	multicellular organism reproduction (GO:0032504)	2.88468260
64	female gamete generation (GO:0007292)	2.87537902
65	chromatin remodeling at centromere (GO:0031055)	2.87525299
66	methionine metabolic process (GO:0006555)	2.87380717
67	meiosis I (GO:0007127)	2.86466831
68	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	2.86118778
69	protein K6-linked ubiquitination (GO:0085020)	2.85923083
70	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.85798891
71	positive regulation of histone methylation (GO:0031062)	2.85292394
72	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.80921532
73	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.77933181
74	NADH dehydrogenase complex assembly (GO:0010257)	2.77933181
75	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.77933181
76	DNA double-strand break processing (GO:0000729)	2.75441992
77	regulation of DNA endoreduplication (GO:0032875)	2.73362980
78	GMP metabolic process (GO:0046037)	2.72316805
79	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.71953395
80	respiratory chain complex IV assembly (GO:0008535)	2.70175819
81	amino acid salvage (GO:0043102)	2.68246646
82	L-methionine salvage (GO:0071267)	2.68246646
83	L-methionine biosynthetic process (GO:0071265)	2.68246646
84	regulation of histone H3-K4 methylation (GO:0051569)	2.65555938
85	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.64488759
86	negative regulation of ligase activity (GO:0051352)	2.64488759
87	negative regulation of chromosome segregation (GO:0051985)	2.62440605
88	negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)	2.61575558
89	negative regulation of mitotic sister chromatid segregation (GO:0033048)	2.61575558
90	negative regulation of mitotic sister chromatid separation (GO:2000816)	2.61575558
91	negative regulation of sister chromatid segregation (GO:0033046)	2.61575558
92	negative regulation of mitotic metaphase/anaphase transition (GO:0045841)	2.61575558
93	mitochondrial respiratory chain complex assembly (GO:0033108)	2.61225261
94	protein K11-linked ubiquitination (GO:0070979)	2.60429924
95	epithelial cilium movement (GO:0003351)	2.58105868
96	methionine biosynthetic process (GO:0009086)	2.57254223
97	short-chain fatty acid metabolic process (GO:0046459)	2.57176105
98	recombinational repair (GO:0000725)	2.57073446
99	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.56586398
100	piRNA metabolic process (GO:0034587)	12.1363152

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	7.42848419
2	IGF1R_20145208_ChIP-Seq_DFB_Human	4.61028666
3	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.90972763
4	ZNF274_21170338_ChIP-Seq_K562_Hela	3.74508262
5	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.30128368
6	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.90119019
7	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.88075300
8	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.67656215
9	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.54242874
10	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.45265608
11	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.45140017
12	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.41862142
13	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.35627164
14	VDR_23849224_ChIP-Seq_CD4+_Human	2.32893526
15	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.13494198
16	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.11578411
17	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.05905139
18	EWS_26573619_Chip-Seq_HEK293_Human	1.99269057
19	TAF15_26573619_Chip-Seq_HEK293_Human	1.92762720
20	VDR_22108803_ChIP-Seq_LS180_Human	1.76789606
21	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.76099681
22	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.73146531
23	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.67605888
24	CBP_20019798_ChIP-Seq_JUKART_Human	1.67605888
25	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.65947730
26	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.62115742
27	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.62007032
28	MYC_18940864_ChIP-ChIP_HL60_Human	1.61692672
29	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.61477637
30	GBX2_23144817_ChIP-Seq_PC3_Human	1.56581067
31	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.55465269
32	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.53917526
33	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.53317928
34	TP53_22573176_ChIP-Seq_HFKS_Human	1.52162889
35	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.50875553
36	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.50223960
37	ELK1_19687146_ChIP-ChIP_HELA_Human	1.49144173
38	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.48824001
39	FUS_26573619_Chip-Seq_HEK293_Human	1.47534761
40	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.45770163
41	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.43665539
42	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.43543031
43	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.42429105
44	FOXP3_21729870_ChIP-Seq_TREG_Human	1.42102138
45	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.41334178
46	HTT_18923047_ChIP-ChIP_STHdh_Human	1.40612823
47	IRF1_19129219_ChIP-ChIP_H3396_Human	1.37816127
48	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.35917129
49	P300_19829295_ChIP-Seq_ESCs_Human	1.33506282
50	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.33210750
51	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.27351610
52	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.25950996
53	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.21676924
54	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.21422911
55	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.20874543
56	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.19711711
57	RNF2_27304074_Chip-Seq_NSC_Mouse	1.18850231
58	TCF4_23295773_ChIP-Seq_U87_Human	1.18375349
59	RUNX2_22187159_ChIP-Seq_PCA_Human	1.16964670
60	AR_20517297_ChIP-Seq_VCAP_Human	1.16820229
61	NCOR_22424771_ChIP-Seq_293T_Human	1.14860934
62	NANOG_20526341_ChIP-Seq_ESCs_Human	1.14660850
63	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.13861016
64	ER_23166858_ChIP-Seq_MCF-7_Human	1.13413022
65	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.12047601
66	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.10347704
67	MYC_19829295_ChIP-Seq_ESCs_Human	1.09309117
68	GABP_19822575_ChIP-Seq_HepG2_Human	1.08755528
69	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.07513199
70	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.06229877
71	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.06206605
72	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.06206605
73	GATA3_26560356_Chip-Seq_TH2_Human	1.05171268
74	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.03778831
75	DCP1A_22483619_ChIP-Seq_HELA_Human	1.02075268
76	SALL1_21062744_ChIP-ChIP_HESCs_Human	0.99714733
77	AR_25329375_ChIP-Seq_VCAP_Human	0.99342782
78	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.98445410
79	NANOG_19829295_ChIP-Seq_ESCs_Human	0.97712638
80	SOX2_19829295_ChIP-Seq_ESCs_Human	0.97712638
81	HOXB7_26014856_ChIP-Seq_BT474_Human	0.96321569
82	SMAD4_21799915_ChIP-Seq_A2780_Human	0.96293153
83	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.94251638
84	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.93806237
85	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.93792800
86	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.93511463
87	MYC_18358816_ChIP-ChIP_MESCs_Mouse	0.92323143
88	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.91697966
89	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.91180355
90	KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.91175734
91	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	0.89426253
92	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.89266460
93	BCAT_22108803_ChIP-Seq_LS180_Human	0.88238033
94	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.87297349
95	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.85537591
96	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	0.84690600
97	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.84590308
98	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.84463678
99	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.84034697
100	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	0.83892057

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	5.35991279
2	MP0003718_maternal_effect	5.05781308
3	MP0008057_abnormal_DNA_replication	4.24882897
4	MP0002102_abnormal_ear_morphology	3.57575780
5	MP0008058_abnormal_DNA_repair	3.33613018
6	MP0003880_abnormal_central_pattern	3.32065926
7	MP0003693_abnormal_embryo_hatching	2.40452177
8	MP0009840_abnormal_foam_cell	2.39952134
9	MP0001929_abnormal_gametogenesis	2.34211251
10	MP0002210_abnormal_sex_determination	2.33416725
11	MP0010094_abnormal_chromosome_stability	2.32789581
12	MP0005645_abnormal_hypothalamus_physiol	2.30551327
13	MP0005084_abnormal_gallbladder_morpholo	2.20873268
14	MP0008995_early_reproductive_senescence	2.07434732
15	MP0006292_abnormal_olfactory_placode	2.06230743
16	MP0003646_muscle_fatigue	2.03153042
17	MP0000653_abnormal_sex_gland	1.87120761
18	MP0008789_abnormal_olfactory_epithelium	1.85343229
19	MP0003786_premature_aging	1.70405574
20	MP0005395_other_phenotype	1.70085134
21	MP0001145_abnormal_male_reproductive	1.70064430
22	MP0002139_abnormal_hepatobiliary_system	1.69944284
23	MP0003698_abnormal_male_reproductive	1.68318789
24	MP0005410_abnormal_fertilization	1.56010066
25	MP0004145_abnormal_muscle_electrophysio	1.55339542
26	MP0002138_abnormal_hepatobiliary_system	1.54925978
27	MP0005075_abnormal_melanosome_morpholog	1.52600585
28	MP0006035_abnormal_mitochondrial_morpho	1.47415456
29	MP0001119_abnormal_female_reproductive	1.41414311
30	MP0005360_urolithiasis	1.39092525
31	MP0006276_abnormal_autonomic_nervous	1.36236701
32	MP0004957_abnormal_blastocyst_morpholog	1.32198245
33	MP0006036_abnormal_mitochondrial_physio	1.30043684
34	MP0001529_abnormal_vocalization	1.28605000
35	MP0001666_abnormal_nutrient_absorption	1.26610949
36	MP0003950_abnormal_plasma_membrane	1.26158901
37	MP0005083_abnormal_biliary_tract	1.25098994
38	MP0002161_abnormal_fertility/fecundity	1.23160964
39	MP0002095_abnormal_skin_pigmentation	1.22891859
40	MP0002837_dystrophic_cardiac_calcinosis	1.22681669
41	MP0005551_abnormal_eye_electrophysiolog	1.20430060
42	MP0005167_abnormal_blood-brain_barrier	1.15808801
43	MP0005394_taste/olfaction_phenotype	1.12660964
44	MP0005499_abnormal_olfactory_system	1.12660964
45	MP0002928_abnormal_bile_duct	1.11312317
46	MP0003699_abnormal_female_reproductive	1.07705505
47	MP0008872_abnormal_physiological_respon	1.05250470
48	MP0002160_abnormal_reproductive_system	1.05078290
49	MP0003077_abnormal_cell_cycle	1.01844141
50	MP0002733_abnormal_thermal_nociception	1.01591347
51	MP0002653_abnormal_ependyma_morphology	1.00346957
52	MP0001984_abnormal_olfaction	1.00340920
53	MP0000383_abnormal_hair_follicle	0.99952027
54	MP0000538_abnormal_urinary_bladder	0.99300420
55	MP0003252_abnormal_bile_duct	0.98902073
56	MP0004147_increased_porphyrin_level	0.98201374
57	MP0001324_abnormal_eye_pigmentation	0.96211081
58	MP0004885_abnormal_endolymph	0.94661597
59	MP0008007_abnormal_cellular_replicative	0.92041280
60	MP0002234_abnormal_pharynx_morphology	0.91072958
61	MP0004134_abnormal_chest_morphology	0.90463742
62	MP0005389_reproductive_system_phenotype	0.90235639
63	MP0000015_abnormal_ear_pigmentation	0.90047349
64	MP0001970_abnormal_pain_threshold	0.87703166
65	MP0005671_abnormal_response_to	0.87628554
66	MP0001905_abnormal_dopamine_level	0.87567663
67	MP0008875_abnormal_xenobiotic_pharmacok	0.86603922
68	MP0008932_abnormal_embryonic_tissue	0.85165305
69	MP0002638_abnormal_pupillary_reflex	0.82992732
70	MP0000358_abnormal_cell_content/	0.81774154
71	MP0010368_abnormal_lymphatic_system	0.81711391
72	MP0002751_abnormal_autonomic_nervous	0.81637401
73	MP0003172_abnormal_lysosome_physiology	0.81100415
74	MP0005187_abnormal_penis_morphology	0.80647166
75	MP0005253_abnormal_eye_physiology	0.79861336
76	MP0000647_abnormal_sebaceous_gland	0.79360919
77	MP0002272_abnormal_nervous_system	0.78195498
78	MP0002233_abnormal_nose_morphology	0.77830433
79	MP0002735_abnormal_chemical_nociception	0.77365890
80	MP0000685_abnormal_immune_system	0.74169143
81	MP0009278_abnormal_bone_marrow	0.73467807
82	MP0001293_anophthalmia	0.72060244
83	MP0006072_abnormal_retinal_apoptosis	0.70731722
84	MP0010678_abnormal_skin_adnexa	0.70403974
85	MP0005319_abnormal_enzyme/_coenzyme	0.69571738
86	MP0005266_abnormal_metabolism	0.69554493
87	MP0000631_abnormal_neuroendocrine_gland	0.68277661
88	MP0002736_abnormal_nociception_after	0.67648412
89	MP0004142_abnormal_muscle_tone	0.67381472
90	MP0000749_muscle_degeneration	0.66913844
91	MP0002090_abnormal_vision	0.66252374
92	MP0005174_abnormal_tail_pigmentation	0.65614196
93	MP0010386_abnormal_urinary_bladder	0.63444067
94	MP0005085_abnormal_gallbladder_physiolo	0.63120069
95	MP0000778_abnormal_nervous_system	0.62490373
96	MP0003195_calcinosis	0.62187156
97	MP0001664_abnormal_digestion	0.60422520
98	MP0002822_catalepsy	0.60281032
99	MP0003724_increased_susceptibility_to	0.60022373
100	MP0002098_abnormal_vibrissa_morphology	0.58789793

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of the labia minora (HP:0012880)	4.72142344
2	Abnormality of midbrain morphology (HP:0002418)	3.40151632
3	Molar tooth sign on MRI (HP:0002419)	3.40151632
4	Short tibia (HP:0005736)	3.32338310
5	Methylmalonic acidemia (HP:0002912)	3.10234740
6	Aplasia/Hypoplasia of the fovea (HP:0008060)	3.09831766
7	Hypoplasia of the fovea (HP:0007750)	3.09831766
8	Decreased electroretinogram (ERG) amplitude (HP:0000654)	3.07518155
9	Abnormality of aspartate family amino acid metabolism (HP:0010899)	3.03510117
10	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.95987494
11	Hepatic necrosis (HP:0002605)	2.90077139
12	Abnormality of serum amino acid levels (HP:0003112)	2.89019707
13	Gonadotropin excess (HP:0000837)	2.86023207
14	Supernumerary spleens (HP:0009799)	2.76730517
15	Decreased circulating renin level (HP:0003351)	2.71970802
16	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.68540520
17	Increased CSF lactate (HP:0002490)	2.67810364
18	Decreased central vision (HP:0007663)	2.62486283
19	Hyperglycinemia (HP:0002154)	2.62394468
20	Increased serum lactate (HP:0002151)	2.61391378
21	Increased hepatocellular lipid droplets (HP:0006565)	2.61054553
22	Poor speech (HP:0002465)	2.59202828
23	Hepatocellular necrosis (HP:0001404)	2.59181480
24	Abnormality of vitamin B metabolism (HP:0004340)	2.48123316
25	Abnormal biliary tract physiology (HP:0012439)	2.47732017
26	Bile duct proliferation (HP:0001408)	2.47732017
27	Attenuation of retinal blood vessels (HP:0007843)	2.47253569
28	Azoospermia (HP:0000027)	2.46079804
29	Hypokinesia (HP:0002375)	2.45349845
30	Abnormality of the fovea (HP:0000493)	2.45119727
31	Lipid accumulation in hepatocytes (HP:0006561)	2.44857145
32	Methylmalonic aciduria (HP:0012120)	2.42753698
33	Colon cancer (HP:0003003)	2.40362448
34	Mitochondrial inheritance (HP:0001427)	2.36790967
35	Posterior subcapsular cataract (HP:0007787)	2.36752705
36	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.31451944
37	Pancreatic cysts (HP:0001737)	2.28329515
38	Abnormal spermatogenesis (HP:0008669)	2.27115100
39	Microvesicular hepatic steatosis (HP:0001414)	2.23581610
40	Dyschromatopsia (HP:0007641)	2.21712619
41	Ketosis (HP:0001946)	2.20133207
42	3-Methylglutaconic aciduria (HP:0003535)	2.19568931
43	Cerebral hypomyelination (HP:0006808)	2.18448007
44	Absent septum pellucidum (HP:0001331)	2.18127156
45	Type 2 muscle fiber atrophy (HP:0003554)	2.15111671
46	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.14060202
47	CNS demyelination (HP:0007305)	2.13107471
48	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.12856870
49	Abnormality of alanine metabolism (HP:0010916)	2.12856870
50	Hyperalaninemia (HP:0003348)	2.12856870
51	Shoulder girdle muscle weakness (HP:0003547)	2.12370510
52	Central scotoma (HP:0000603)	2.09823471
53	Dicarboxylic aciduria (HP:0003215)	2.08641039
54	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.08641039
55	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.07545991
56	Abdominal situs inversus (HP:0003363)	2.05178779
57	Abnormality of abdominal situs (HP:0011620)	2.05178779
58	Rimmed vacuoles (HP:0003805)	2.04112122
59	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.03939505
60	Absent/shortened dynein arms (HP:0200106)	2.03939505
61	Renal Fanconi syndrome (HP:0001994)	2.03203226
62	Hyperventilation (HP:0002883)	2.02566989
63	Acute necrotizing encephalopathy (HP:0006965)	2.01443206
64	Elevated erythrocyte sedimentation rate (HP:0003565)	1.99591106
65	Lissencephaly (HP:0001339)	1.99531660
66	Chromsome breakage (HP:0040012)	1.98480959
67	Tubulointerstitial nephritis (HP:0001970)	1.98209203
68	Ketoacidosis (HP:0001993)	1.97800347
69	Optic nerve hypoplasia (HP:0000609)	1.97773166
70	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.97396323
71	Abnormality of serine family amino acid metabolism (HP:0010894)	1.95402160
72	Abnormality of glycine metabolism (HP:0010895)	1.95402160
73	Abnormal respiratory motile cilium morphology (HP:0005938)	1.94837442
74	Abnormal respiratory epithelium morphology (HP:0012253)	1.94837442
75	Patellar aplasia (HP:0006443)	1.94508781
76	Parkinsonism with favorable response to dopaminergic medication (HP:0002548)	1.93608090
77	Pancreatic fibrosis (HP:0100732)	1.91808689
78	Meckel diverticulum (HP:0002245)	1.88072637
79	Ependymoma (HP:0002888)	1.85680085
80	Intellectual disability, profound (HP:0002187)	1.85085193
81	Abnormal protein glycosylation (HP:0012346)	1.83287649
82	Abnormal glycosylation (HP:0012345)	1.83287649
83	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.83287649
84	Abnormal protein N-linked glycosylation (HP:0012347)	1.83287649
85	Hypoglycemic coma (HP:0001325)	1.83038285
86	Aplasia/Hypoplasia of the patella (HP:0006498)	1.83026368
87	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.82865723
88	Abnormality of the ileum (HP:0001549)	1.82685814
89	Oculomotor apraxia (HP:0000657)	1.82535656
90	Premature ovarian failure (HP:0008209)	1.81351553
91	Testicular atrophy (HP:0000029)	1.79447063
92	Lactic acidosis (HP:0003128)	1.79049963
93	Small hand (HP:0200055)	1.77275826
94	Hypothermia (HP:0002045)	1.77034596
95	Birth length less than 3rd percentile (HP:0003561)	1.76699666
96	Stomatitis (HP:0010280)	1.76564066
97	Bony spicule pigmentary retinopathy (HP:0007737)	1.75038456
98	Aplasia/Hypoplasia of the macula (HP:0008059)	1.74449860
99	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.74375784
100	Scotoma (HP:0000575)	1.73143832

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MUSK	6.45488490
2	TIE1	4.04869262
3	TRIM28	3.74048805
4	VRK2	3.69944063
5	TAOK3	2.52386891
6	EPHA4	2.46041461
7	NUAK1	2.45247058
8	BCKDK	2.27107823
9	TAF1	2.23454744
10	BMPR1B	2.14751394
11	BUB1	2.11095196
12	MAP3K4	1.99819576
13	CSNK1G2	1.83265078
14	CDC7	1.79797278
15	CSNK1G3	1.77279763
16	MAP2K7	1.75066507
17	GRK1	1.69631557
18	VRK1	1.66452545
19	CSNK1G1	1.52843952
20	CSNK1A1L	1.49690858
21	ZAK	1.47784549
22	ACVR1B	1.45888396
23	WNK3	1.45385069
24	TLK1	1.44682658
25	FRK	1.25991022
26	TBK1	1.17649925
27	TXK	1.16268301
28	TTK	1.15087141
29	PLK1	1.13614561
30	DYRK2	1.12481127
31	MST4	1.09755992
32	TSSK6	1.09202822
33	PDK2	1.08347376
34	GRK5	1.05904221
35	CASK	1.01641993
36	ADRBK2	1.01582729
37	MAPK13	1.00013777
38	MAP3K13	0.99798661
39	PRKD3	0.99514692
40	MARK1	0.97974441
41	PLK3	0.97663639
42	TGFBR1	0.93925305
43	STK39	0.93473698
44	CDK9	0.88387915
45	BCR	0.87910900
46	PINK1	0.83675959
47	OXSR1	0.81250743
48	EIF2AK3	0.80931141
49	WNK4	0.79863701
50	TEC	0.77222504
51	EIF2AK2	0.76684749
52	CDK8	0.75016937
53	ERBB3	0.74757034
54	ATM	0.73426126
55	TESK2	0.72445429
56	NEK1	0.71503658
57	INSRR	0.70878383
58	PLK2	0.70801605
59	PLK4	0.68888944
60	CHEK2	0.61863799
61	MAPKAPK3	0.60194155
62	STK16	0.59586446
63	MAPKAPK5	0.57390358
64	AURKA	0.56171301
65	MAP3K14	0.56008182
66	CDK3	0.54822312
67	PTK2B	0.54268163
68	KDR	0.54259003
69	BTK	0.54161195
70	ATR	0.52250026
71	MAP4K2	0.50526139
72	STK24	0.48549463
73	DAPK1	0.48463359
74	CDK7	0.47186574
75	STK3	0.46465856
76	CHEK1	0.43153337
77	AURKB	0.42434821
78	CDK19	0.40406917
79	CSNK2A1	0.39703461
80	PRKCG	0.38753469
81	CDK18	0.38585549
82	DYRK1A	0.37913553
83	MAP3K5	0.37348714
84	SYK	0.36913545
85	IKBKE	0.36903627
86	CDK14	0.36848653
87	SRPK1	0.36730819
88	NEK2	0.36513728
89	NME1	0.36488681
90	PRKAA2	0.35522735
91	CDK15	0.34918904
92	PRKCI	0.33967024
93	OBSCN	0.33483300
94	TNIK	0.33251707
95	CDK11A	0.32412146
96	PRKACA	0.29812982
97	PAK3	0.29797654
98	CSNK1D	0.29790524
99	CSNK1E	0.27378316
100	CCNB1	0.25654179

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Basal transcription factors_Homo sapiens_hsa03022	3.46826837
2	Mismatch repair_Homo sapiens_hsa03430	3.22147208
3	Fatty acid elongation_Homo sapiens_hsa00062	3.15594753
4	Proteasome_Homo sapiens_hsa03050	3.06560231
5	Base excision repair_Homo sapiens_hsa03410	2.95397168
6	Homologous recombination_Homo sapiens_hsa03440	2.92508980
7	Fanconi anemia pathway_Homo sapiens_hsa03460	2.59031474
8	DNA replication_Homo sapiens_hsa03030	2.47352353
9	Phototransduction_Homo sapiens_hsa04744	2.46922207
10	Propanoate metabolism_Homo sapiens_hsa00640	2.39805329
11	Protein export_Homo sapiens_hsa03060	2.17148591
12	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.14381143
13	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.07726839
14	Sulfur metabolism_Homo sapiens_hsa00920	2.01363161
15	One carbon pool by folate_Homo sapiens_hsa00670	1.96471020
16	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.93251835
17	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.74641625
18	Oxidative phosphorylation_Homo sapiens_hsa00190	1.72953971
19	Regulation of autophagy_Homo sapiens_hsa04140	1.71857846
20	Cell cycle_Homo sapiens_hsa04110	1.68458186
21	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.68182306
22	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.65850942
23	RNA degradation_Homo sapiens_hsa03018	1.58519442
24	Nucleotide excision repair_Homo sapiens_hsa03420	1.58393212
25	Huntingtons disease_Homo sapiens_hsa05016	1.49533346
26	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.47888906
27	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.46260406
28	Parkinsons disease_Homo sapiens_hsa05012	1.46039497
29	RNA transport_Homo sapiens_hsa03013	1.44627732
30	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.42682819
31	Oocyte meiosis_Homo sapiens_hsa04114	1.37250993
32	Tryptophan metabolism_Homo sapiens_hsa00380	1.30846140
33	Purine metabolism_Homo sapiens_hsa00230	1.28846051
34	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.22041790
35	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.15380169
36	Linoleic acid metabolism_Homo sapiens_hsa00591	1.15316844
37	Collecting duct acid secretion_Homo sapiens_hsa04966	1.09065199
38	Pyruvate metabolism_Homo sapiens_hsa00620	1.05735711
39	Folate biosynthesis_Homo sapiens_hsa00790	1.02981494
40	p53 signaling pathway_Homo sapiens_hsa04115	1.02254129
41	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.02038769
42	Caffeine metabolism_Homo sapiens_hsa00232	1.01865072
43	Butanoate metabolism_Homo sapiens_hsa00650	1.01536696
44	Selenocompound metabolism_Homo sapiens_hsa00450	0.98756767
45	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.95770968
46	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.94613941
47	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.92689806
48	Non-homologous end-joining_Homo sapiens_hsa03450	0.91993288
49	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.91988102
50	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.91562095
51	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.90151117
52	Spliceosome_Homo sapiens_hsa03040	0.84115031
53	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.84070336
54	Rheumatoid arthritis_Homo sapiens_hsa05323	0.80843650
55	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.79406086
56	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.76528824
57	RNA polymerase_Homo sapiens_hsa03020	0.73697358
58	Pyrimidine metabolism_Homo sapiens_hsa00240	0.71894700
59	Nicotine addiction_Homo sapiens_hsa05033	0.69599899
60	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.66844161
61	Fatty acid metabolism_Homo sapiens_hsa01212	0.66099110
62	Asthma_Homo sapiens_hsa05310	0.65929016
63	Taste transduction_Homo sapiens_hsa04742	0.64628944
64	Nitrogen metabolism_Homo sapiens_hsa00910	0.64161585
65	Ether lipid metabolism_Homo sapiens_hsa00565	0.63006851
66	Ribosome_Homo sapiens_hsa03010	0.60817075
67	Olfactory transduction_Homo sapiens_hsa04740	0.60767109
68	Fat digestion and absorption_Homo sapiens_hsa04975	0.58954878
69	Cardiac muscle contraction_Homo sapiens_hsa04260	0.58813696
70	Metabolic pathways_Homo sapiens_hsa01100	0.58779295
71	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.58275791
72	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.57269065
73	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.56402149
74	Chemical carcinogenesis_Homo sapiens_hsa05204	0.56384500
75	Sulfur relay system_Homo sapiens_hsa04122	0.52074432
76	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.51505289
77	Peroxisome_Homo sapiens_hsa04146	0.49249086
78	Glutathione metabolism_Homo sapiens_hsa00480	0.47917416
79	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.47331067
80	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.45875529
81	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.44934687
82	Retinol metabolism_Homo sapiens_hsa00830	0.44797704
83	Glycerolipid metabolism_Homo sapiens_hsa00561	0.44591772
84	beta-Alanine metabolism_Homo sapiens_hsa00410	0.43705609
85	Morphine addiction_Homo sapiens_hsa05032	0.42465499
86	Alzheimers disease_Homo sapiens_hsa05010	0.39943316
87	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.39644652
88	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.39060342
89	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.38916143
90	Herpes simplex infection_Homo sapiens_hsa05168	0.36821049
91	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.36577541
92	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.36007837
93	Arginine and proline metabolism_Homo sapiens_hsa00330	0.35770548
94	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.34774932
95	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.31258744
96	Vibrio cholerae infection_Homo sapiens_hsa05110	0.31171517
97	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.30914782
98	Fatty acid degradation_Homo sapiens_hsa00071	0.30618121
99	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.27250605
100	Steroid biosynthesis_Homo sapiens_hsa00100	0.24357151

ACTBP12

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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