ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of meiosis I (GO:0060631)	8.44835100
2	DNA methylation involved in gamete generation (GO:0043046)	7.53072253
3	male meiosis I (GO:0007141)	7.19484964
4	gonadal mesoderm development (GO:0007506)	6.96519173
5	meiosis I (GO:0007127)	6.32894715
6	synaptonemal complex assembly (GO:0007130)	6.30873702
7	male meiosis (GO:0007140)	6.29415693
8	synaptonemal complex organization (GO:0070193)	6.06928943
9	chromosome organization involved in meiosis (GO:0070192)	5.42685354
10	meiotic nuclear division (GO:0007126)	5.21455115
11	positive regulation of meiosis (GO:0045836)	4.99065155
12	synapsis (GO:0007129)	4.77917730
13	positive regulation of meiotic cell cycle (GO:0051446)	4.72864382
14	regulation of MHC class II biosynthetic process (GO:0045346)	4.54187954
15	reciprocal DNA recombination (GO:0035825)	4.52893943
16	reciprocal meiotic recombination (GO:0007131)	4.52893943
17	negative regulation of meiosis (GO:0045835)	4.44972004
18	meiotic chromosome segregation (GO:0045132)	4.28993956
19	sister chromatid cohesion (GO:0007062)	4.25851068
20	gene silencing by RNA (GO:0031047)	4.07965973
21	regulation of interleukin-12 biosynthetic process (GO:0045075)	3.95921928
22	regulation of podosome assembly (GO:0071801)	3.90981948
23	positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)	3.88422416
24	regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)	3.88422416
25	DNA synthesis involved in DNA repair (GO:0000731)	3.87358056
26	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	3.84511437
27	meiotic cell cycle process (GO:1903046)	3.71324080
28	ncRNA 3-end processing (GO:0043628)	3.66836678
29	negative regulation of neurological system process (GO:0031645)	3.60273979
30	oogenesis (GO:0048477)	3.60196007
31	IMP biosynthetic process (GO:0006188)	3.56738273
32	regulation of DNA endoreduplication (GO:0032875)	3.55597115
33	DNA catabolic process, exonucleolytic (GO:0000738)	3.54941451
34	DNA deamination (GO:0045006)	3.53763478
35	female gamete generation (GO:0007292)	3.52497678
36	resolution of meiotic recombination intermediates (GO:0000712)	3.42722842
37	negative regulation of interleukin-17 production (GO:0032700)	3.42701923
38	ribosomal small subunit assembly (GO:0000028)	3.40345366
39	protein neddylation (GO:0045116)	3.37672442
40	regulation of isotype switching to IgG isotypes (GO:0048302)	3.36267290
41	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	3.32655409
42	centriole replication (GO:0007099)	3.29385925
43	parturition (GO:0007567)	3.27335665
44	negative regulation of thymocyte apoptotic process (GO:0070244)	3.24425909
45	positive regulation of protein homodimerization activity (GO:0090073)	3.24390396
46	centriole assembly (GO:0098534)	3.24124292
47	ubiquinone biosynthetic process (GO:0006744)	3.24035491
48	autophagic vacuole assembly (GO:0000045)	3.20899985
49	response to pheromone (GO:0019236)	3.20072856
50	DNA methylation (GO:0006306)	3.15671287
51	DNA alkylation (GO:0006305)	3.15671287
52	diol metabolic process (GO:0034311)	3.12008895
53	regulation of vitamin D biosynthetic process (GO:0060556)	3.09119580
54	mitotic sister chromatid cohesion (GO:0007064)	3.05668776
55	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.04696585
56	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.04696585
57	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.03260006
58	NADH dehydrogenase complex assembly (GO:0010257)	3.03260006
59	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.03260006
60	protein-cofactor linkage (GO:0018065)	2.99773318
61	maturation of 5.8S rRNA (GO:0000460)	2.99168625
62	fucose catabolic process (GO:0019317)	2.96805789
63	L-fucose metabolic process (GO:0042354)	2.96805789
64	L-fucose catabolic process (GO:0042355)	2.96805789
65	negative regulation of metanephros development (GO:0072217)	2.95985960
66	germ cell migration (GO:0008354)	2.95227254
67	organelle disassembly (GO:1903008)	2.95204859
68	sex differentiation (GO:0007548)	2.94054266
69	ubiquinone metabolic process (GO:0006743)	2.93594914
70	adenosine metabolic process (GO:0046085)	2.93444459
71	seminiferous tubule development (GO:0072520)	2.90261996
72	negative regulation of meiotic cell cycle (GO:0051447)	2.88091544
73	positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)	2.86865346
74	alpha-beta T cell activation involved in immune response (GO:0002287)	2.86802125
75	T cell differentiation involved in immune response (GO:0002292)	2.86802125
76	alpha-beta T cell differentiation involved in immune response (GO:0002293)	2.86802125
77	behavioral response to nicotine (GO:0035095)	2.85191366
78	DNA double-strand break processing (GO:0000729)	2.84415304
79	regulation of meiosis (GO:0040020)	2.84007063
80	proteasome assembly (GO:0043248)	2.81071083
81	IMP metabolic process (GO:0046040)	2.76936042
82	fusion of sperm to egg plasma membrane (GO:0007342)	2.76816947
83	DNA replication checkpoint (GO:0000076)	2.76276843
84	pyrimidine dimer repair (GO:0006290)	2.76046440
85	respiratory chain complex IV assembly (GO:0008535)	2.74539129
86	spindle assembly involved in mitosis (GO:0090307)	2.73983380
87	polyamine biosynthetic process (GO:0006596)	2.72909733
88	regulation of retinoic acid receptor signaling pathway (GO:0048385)	2.72171127
89	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.71167998
90	DNA methylation or demethylation (GO:0044728)	2.67707951
91	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.66703599
92	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.66045174
93	termination of RNA polymerase III transcription (GO:0006386)	2.66045174
94	axoneme assembly (GO:0035082)	2.65906450
95	ribosome assembly (GO:0042255)	2.63054928
96	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.62156702
97	monoubiquitinated protein deubiquitination (GO:0035520)	2.61950660
98	regulation of meiotic cell cycle (GO:0051445)	2.60745017
99	positive regulation of chemokine biosynthetic process (GO:0045080)	2.58728981
100	piRNA metabolic process (GO:0034587)	12.7255410

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.68875263
2	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.51134784
3	IGF1R_20145208_ChIP-Seq_DFB_Human	4.28998549
4	VDR_22108803_ChIP-Seq_LS180_Human	3.97868231
5	ZNF274_21170338_ChIP-Seq_K562_Hela	3.63554154
6	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.41548082
7	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.39612604
8	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.82693942
9	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.62545506
10	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.57258102
11	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.52137516
12	VDR_23849224_ChIP-Seq_CD4+_Human	2.50499403
13	TAF15_26573619_Chip-Seq_HEK293_Human	2.45311645
14	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.42757690
15	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.38779223
16	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	2.32208672
17	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	2.32208672
18	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	2.32208672
19	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.31409063
20	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.28611580
21	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.12189169
22	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.05369856
23	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.02865642
24	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.01331603
25	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	2.00468101
26	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.98861899
27	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.97207290
28	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.92693404
29	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.90026135
30	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.81156840
31	ELK1_19687146_ChIP-ChIP_HELA_Human	1.72850431
32	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.63359905
33	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.63075265
34	FOXP3_21729870_ChIP-Seq_TREG_Human	1.60712036
35	DCP1A_22483619_ChIP-Seq_HELA_Human	1.57409562
36	IRF1_19129219_ChIP-ChIP_H3396_Human	1.51072999
37	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.50588987
38	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.50377914
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.43761458
40	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.43644137
41	EWS_26573619_Chip-Seq_HEK293_Human	1.42725134
42	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.31340402
43	HTT_18923047_ChIP-ChIP_STHdh_Human	1.28837621
44	BCAT_22108803_ChIP-Seq_LS180_Human	1.27344871
45	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.26590311
46	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.26590311
47	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.24722821
48	ER_23166858_ChIP-Seq_MCF-7_Human	1.24207409
49	HOXB7_26014856_ChIP-Seq_BT474_Human	1.24131450
50	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.22721695
51	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.21535385
52	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.19454798
53	GABP_19822575_ChIP-Seq_HepG2_Human	1.19320674
54	GATA3_26560356_Chip-Seq_TH2_Human	1.15608733
55	AR_20517297_ChIP-Seq_VCAP_Human	1.15431870
56	NANOG_19829295_ChIP-Seq_ESCs_Human	1.14659885
57	SOX2_19829295_ChIP-Seq_ESCs_Human	1.14659885
58	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.11185070
59	GBX2_23144817_ChIP-Seq_PC3_Human	1.10790529
60	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.10240670
61	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.06440890
62	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.05996378
63	MYC_18940864_ChIP-ChIP_HL60_Human	1.05312974
64	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.04781141
65	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.04588547
66	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.01559774
67	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.01005945
68	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.00065198
69	TTF2_22483619_ChIP-Seq_HELA_Human	0.96937320
70	KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.96845996
71	NCOR_22424771_ChIP-Seq_293T_Human	0.95206089
72	ZFP57_27257070_Chip-Seq_ESCs_Mouse	0.95058791
73	CTBP2_25329375_ChIP-Seq_LNCAP_Human	0.94527165
74	P300_19829295_ChIP-Seq_ESCs_Human	0.94174559
75	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.94119938
76	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.93617050
77	MYC_18358816_ChIP-ChIP_MESCs_Mouse	0.90335286
78	RNF2_27304074_Chip-Seq_NSC_Mouse	0.90125412
79	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.89585017
80	TCF4_23295773_ChIP-Seq_U87_Human	0.88444406
81	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.88371162
82	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.87745408
83	MYC_19079543_ChIP-ChIP_MESCs_Mouse	0.87071188
84	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.86403911
85	STAT3_23295773_ChIP-Seq_U87_Human	0.83283385
86	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.83252995
87	GATA1_26923725_Chip-Seq_HPCs_Mouse	0.82377021
88	FUS_26573619_Chip-Seq_HEK293_Human	0.80964963
89	MYCN_18555785_ChIP-Seq_MESCs_Mouse	0.80891579
90	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.80076643
91	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.80058461
92	IRF8_21731497_ChIP-ChIP_J774_Mouse	0.80032580
93	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.78678983
94	GATA3_26560356_Chip-Seq_TH1_Human	0.78597317
95	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.78481316
96	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	0.78224525
97	CBP_20019798_ChIP-Seq_JUKART_Human	0.78063757
98	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.78063757
99	EZH2_22144423_ChIP-Seq_EOC_Human	0.77943201
100	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.77355562

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	5.19711514
2	MP0004782_abnormal_surfactant_physiolog	3.68845886
3	MP0001835_abnormal_antigen_presentation	2.96221952
4	MP0003693_abnormal_embryo_hatching	2.91122815
5	MP0002210_abnormal_sex_determination	2.73273023
6	MP0008260_abnormal_autophagy	2.54156230
7	MP0003011_delayed_dark_adaptation	2.39545741
8	MP0004957_abnormal_blastocyst_morpholog	2.38676350
9	MP0002160_abnormal_reproductive_system	2.36282989
10	MP0003718_maternal_effect	2.33000224
11	MP0004147_increased_porphyrin_level	2.26575667
12	MP0003186_abnormal_redox_activity	2.25988311
13	MP0001929_abnormal_gametogenesis	2.22906003
14	MP0008058_abnormal_DNA_repair	2.20755039
15	MP0000653_abnormal_sex_gland	2.16842969
16	MP0005174_abnormal_tail_pigmentation	2.16250524
17	MP0001145_abnormal_male_reproductive	2.15583270
18	MP0005671_abnormal_response_to	2.10939708
19	MP0010368_abnormal_lymphatic_system	2.09587835
20	MP0005464_abnormal_platelet_physiology	2.05690716
21	MP0001873_stomach_inflammation	2.01053442
22	MP0003698_abnormal_male_reproductive	1.97752251
23	MP0008057_abnormal_DNA_replication	1.96846231
24	MP0005389_reproductive_system_phenotype	1.83098044
25	MP0008872_abnormal_physiological_respon	1.82522900
26	MP0009333_abnormal_splenocyte_physiolog	1.73033364
27	MP0001986_abnormal_taste_sensitivity	1.72600546
28	MP0003646_muscle_fatigue	1.71268382
29	MP0005084_abnormal_gallbladder_morpholo	1.69048834
30	MP0010155_abnormal_intestine_physiology	1.67935154
31	MP0000015_abnormal_ear_pigmentation	1.65180477
32	MP0004145_abnormal_muscle_electrophysio	1.64059319
33	MP0001119_abnormal_female_reproductive	1.59250614
34	MP0006292_abnormal_olfactory_placode	1.57557967
35	MP0006035_abnormal_mitochondrial_morpho	1.57498773
36	MP0005647_abnormal_sex_gland	1.42096192
37	MP0002405_respiratory_system_inflammati	1.41390565
38	MP0002254_reproductive_system_inflammat	1.40172233
39	MP0005410_abnormal_fertilization	1.40110248
40	MP0002009_preneoplasia	1.39612161
41	MP0001919_abnormal_reproductive_system	1.36803144
42	MP0002148_abnormal_hypersensitivity_rea	1.35689597
43	MP0002102_abnormal_ear_morphology	1.35115497
44	MP0005551_abnormal_eye_electrophysiolog	1.34243347
45	MP0010307_abnormal_tumor_latency	1.33971376
46	MP0000490_abnormal_crypts_of	1.33390957
47	MP0005423_abnormal_somatic_nervous	1.29127030
48	MP0004019_abnormal_vitamin_homeostasis	1.27585226
49	MP0008995_early_reproductive_senescence	1.27418622
50	MP0010094_abnormal_chromosome_stability	1.21240393
51	MP0002161_abnormal_fertility/fecundity	1.17596009
52	MP0003724_increased_susceptibility_to	1.17521446
53	MP0006036_abnormal_mitochondrial_physio	1.16107554
54	MP0001879_abnormal_lymphatic_vessel	1.14037186
55	MP0000383_abnormal_hair_follicle	1.12963552
56	MP0002736_abnormal_nociception_after	1.07738915
57	MP0008875_abnormal_xenobiotic_pharmacok	1.07208216
58	MP0003936_abnormal_reproductive_system	1.05692428
59	MP0003880_abnormal_central_pattern	1.01044045
60	MP0004084_abnormal_cardiac_muscle	0.99012265
61	MP0003699_abnormal_female_reproductive	0.98218698
62	MP0004215_abnormal_myocardial_fiber	0.97086636
63	MP0001958_emphysema	0.96023897
64	MP0005000_abnormal_immune_tolerance	0.92570170
65	MP0008775_abnormal_heart_ventricle	0.92471941
66	MP0000358_abnormal_cell_content/	0.92252576
67	MP0002876_abnormal_thyroid_physiology	0.89180241
68	MP0005310_abnormal_salivary_gland	0.88996040
69	MP0003183_abnormal_peptide_metabolism	0.87879333
70	MP0005501_abnormal_skin_physiology	0.86917817
71	MP0003436_decreased_susceptibility_to	0.86445299
72	MP0004036_abnormal_muscle_relaxation	0.81512698
73	MP0003656_abnormal_erythrocyte_physiolo	0.79761886
74	MP0001666_abnormal_nutrient_absorption	0.77831831
75	MP0008932_abnormal_embryonic_tissue	0.76590843
76	MP0000703_abnormal_thymus_morphology	0.75036381
77	MP0003077_abnormal_cell_cycle	0.72190508
78	MP0001730_embryonic_growth_arrest	0.71677899
79	MP0002163_abnormal_gland_morphology	0.71359388
80	MP0005253_abnormal_eye_physiology	0.70363040
81	MP0003123_paternal_imprinting	0.68530197
82	MP0002796_impaired_skin_barrier	0.65315848
83	MP0001177_atelectasis	0.64494747
84	MP0001853_heart_inflammation	0.64107528
85	MP0004142_abnormal_muscle_tone	0.64002652
86	MP0003763_abnormal_thymus_physiology	0.63272837
87	MP0002722_abnormal_immune_system	0.62946536
88	MP0009765_abnormal_xenobiotic_induced	0.61032302
89	MP0008004_abnormal_stomach_pH	0.60664864
90	MP0005167_abnormal_blood-brain_barrier	0.59518786
91	MP0001765_abnormal_ion_homeostasis	0.59254153
92	MP0003786_premature_aging	0.59013073
93	MP0005670_abnormal_white_adipose	0.58756895
94	MP0010352_gastrointestinal_tract_polyps	0.58372201
95	MP0002006_tumorigenesis	0.56522498
96	MP0003638_abnormal_response/metabolism_	0.55996993
97	MP0002735_abnormal_chemical_nociception	0.55746902
98	MP0009785_altered_susceptibility_to	0.55435719
99	MP0003890_abnormal_embryonic-extraembry	0.54242045
100	MP0000465_gastrointestinal_hemorrhage	0.54084739

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	4.28266266
2	Degeneration of the lateral corticospinal tracts (HP:0002314)	4.28266266
3	Stomatitis (HP:0010280)	4.09650499
4	Amyotrophic lateral sclerosis (HP:0007354)	4.00065655
5	3-Methylglutaconic aciduria (HP:0003535)	3.77554097
6	Hypoplasia of the pons (HP:0012110)	3.64743873
7	Microvesicular hepatic steatosis (HP:0001414)	3.62775437
8	Volvulus (HP:0002580)	3.61629967
9	Shoulder girdle muscle weakness (HP:0003547)	3.56410788
10	Abnormality of the corticospinal tract (HP:0002492)	3.53300169
11	Abnormality of the pons (HP:0007361)	3.35952152
12	Hyperglycinuria (HP:0003108)	3.35841068
13	Small hand (HP:0200055)	3.27416993
14	Type II lissencephaly (HP:0007260)	3.10491312
15	Increased IgM level (HP:0003496)	3.01628979
16	Atrophy/Degeneration involving motor neurons (HP:0007373)	2.89221317
17	Scotoma (HP:0000575)	2.84016588
18	Congenital, generalized hypertrichosis (HP:0004540)	2.83292738
19	Acute necrotizing encephalopathy (HP:0006965)	2.79902056
20	IgG deficiency (HP:0004315)	2.78629988
21	Abnormality of the lower motor neuron (HP:0002366)	2.74899493
22	Increased CSF lactate (HP:0002490)	2.73319502
23	Short middle phalanx of the 5th finger (HP:0004220)	2.52710375
24	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.51949505
25	Abnormality of alanine metabolism (HP:0010916)	2.51949505
26	Hyperalaninemia (HP:0003348)	2.51949505
27	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.50767714
28	Progressive macrocephaly (HP:0004481)	2.50519197
29	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	2.49766346
30	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.47817280
31	Impaired vibration sensation in the lower limbs (HP:0002166)	2.46962456
32	Hypoplasia of the uterus (HP:0000013)	2.46281580
33	Cerebellar dysplasia (HP:0007033)	2.45740537
34	Methylmalonic acidemia (HP:0002912)	2.45088934
35	Birth length less than 3rd percentile (HP:0003561)	2.42792960
36	Acute encephalopathy (HP:0006846)	2.40189460
37	Menorrhagia (HP:0000132)	2.37688727
38	Prolonged bleeding time (HP:0003010)	2.37651778
39	Purpura (HP:0000979)	2.37394295
40	Abnormality of glycine metabolism (HP:0010895)	2.36214878
41	Abnormality of serine family amino acid metabolism (HP:0010894)	2.36214878
42	Progressive microcephaly (HP:0000253)	2.35379159
43	Dry hair (HP:0011359)	2.34971677
44	Severe global developmental delay (HP:0011344)	2.33369737
45	Abnormal mitochondria in muscle tissue (HP:0008316)	2.29382361
46	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.28111665
47	Cerebral hypomyelination (HP:0006808)	2.27132532
48	Abnormality of the phalanges of the 5th finger (HP:0004213)	2.26697640
49	Rimmed vacuoles (HP:0003805)	2.26063749
50	Attenuation of retinal blood vessels (HP:0007843)	2.25481629
51	Hypoproteinemia (HP:0003075)	2.23069046
52	Petechiae (HP:0000967)	2.22102360
53	Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)	2.21768041
54	Opisthotonus (HP:0002179)	2.20722592
55	CNS hypomyelination (HP:0003429)	2.19926151
56	Abnormal spermatogenesis (HP:0008669)	2.18375734
57	Retinal dysplasia (HP:0007973)	2.14718495
58	Carpal bone hypoplasia (HP:0001498)	2.12727802
59	Abnormal rod and cone electroretinograms (HP:0008323)	2.12088277
60	Methylmalonic aciduria (HP:0012120)	2.10331176
61	Increased serum lactate (HP:0002151)	2.09585688
62	Osteomalacia (HP:0002749)	2.06473015
63	Azoospermia (HP:0000027)	2.05844970
64	Cerebral edema (HP:0002181)	2.04965386
65	Abnormality of the costochondral junction (HP:0000919)	2.02196793
66	Ectopic kidney (HP:0000086)	2.01583236
67	Increased hepatocellular lipid droplets (HP:0006565)	2.01127695
68	Asplenia (HP:0001746)	2.00584024
69	Horizontal nystagmus (HP:0000666)	2.00086470
70	IgA deficiency (HP:0002720)	1.99999088
71	Aplasia/hypoplasia of the uterus (HP:0008684)	1.99005318
72	Short tibia (HP:0005736)	1.99000442
73	Increased mean platelet volume (HP:0011877)	1.96998096
74	Gonadotropin excess (HP:0000837)	1.96368360
75	Tubulointerstitial nephritis (HP:0001970)	1.96293541
76	Tubular atrophy (HP:0000092)	1.96147971
77	Hypomagnesemia (HP:0002917)	1.95708147
78	Fair hair (HP:0002286)	1.95362359
79	Mitochondrial inheritance (HP:0001427)	1.94518225
80	Abnormality of secondary sexual hair (HP:0009888)	1.91619580
81	Abnormality of the axillary hair (HP:0100134)	1.91619580
82	Paralysis (HP:0003470)	1.84729029
83	Abnormality of midbrain morphology (HP:0002418)	1.84010978
84	Molar tooth sign on MRI (HP:0002419)	1.84010978
85	Tetany (HP:0001281)	1.83844763
86	Absent thumb (HP:0009777)	1.82206377
87	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.81546376
88	Supernumerary spleens (HP:0009799)	1.80673634
89	Amelogenesis imperfecta (HP:0000705)	1.80448302
90	Facial diplegia (HP:0001349)	1.79836523
91	Dyskinesia (HP:0100660)	1.76703059
92	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	1.76364130
93	Abnormal platelet volume (HP:0011876)	1.76319999
94	Urinary bladder sphincter dysfunction (HP:0002839)	1.75774372
95	Decreased circulating renin level (HP:0003351)	1.74883939
96	Decreased central vision (HP:0007663)	1.74690676
97	Congenital stationary night blindness (HP:0007642)	1.74679209
98	Lipid accumulation in hepatocytes (HP:0006561)	1.74653040
99	Hepatocellular necrosis (HP:0001404)	1.73614224
100	Abnormality of magnesium homeostasis (HP:0004921)	1.72586029

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK16	4.93441141
2	ACVR1B	3.81416814
3	PBK	3.68958563
4	EIF2AK3	3.01306076
5	CASK	2.88128659
6	EIF2AK1	2.64172546
7	STK39	2.38802340
8	PLK4	2.14879265
9	BMPR1B	2.11685666
10	TAOK3	2.11185272
11	TNK2	2.00922563
12	PINK1	1.94854304
13	WNK4	1.94767083
14	MAPKAPK3	1.90271802
15	STK24	1.88765040
16	NUAK1	1.86323649
17	FRK	1.84773541
18	MUSK	1.73121105
19	STK3	1.70152366
20	TLK1	1.66130208
21	EPHA3	1.64335357
22	ZAK	1.61239523
23	MST4	1.56335895
24	TXK	1.47142330
25	TAF1	1.44532420
26	PLK2	1.36624838
27	ADRBK2	1.30867152
28	GRK1	1.29021477
29	LATS1	1.26580899
30	PLK3	1.16083743
31	MELK	1.15863497
32	TEC	1.15288298
33	WNK3	1.13492745
34	DYRK3	1.12111779
35	VRK1	1.10924882
36	EPHA4	1.10736296
37	OXSR1	1.10341169
38	YES1	1.07769401
39	AKT3	1.02475044
40	PIK3CG	0.97891271
41	RPS6KB2	0.95702908
42	PNCK	0.94384870
43	PHKG2	0.93185696
44	PHKG1	0.93185696
45	INSRR	0.91399066
46	CAMKK2	0.90918992
47	GRK6	0.87790924
48	ALK	0.86858762
49	TSSK6	0.85534489
50	FER	0.79058280
51	MAP3K14	0.76983938
52	RIPK4	0.75580779
53	ZAP70	0.71560219
54	PLK1	0.71238272
55	NEK1	0.67018139
56	BRSK1	0.66996494
57	NLK	0.64706304
58	BMPR2	0.63949585
59	STK38L	0.61966809
60	BMX	0.61687540
61	EIF2AK2	0.61653852
62	BTK	0.58837896
63	IKBKB	0.58256103
64	MAPK13	0.58176410
65	CDK7	0.58129259
66	SYK	0.57601702
67	MKNK2	0.57570466
68	MAP3K13	0.57396247
69	MAP3K4	0.55970756
70	ITK	0.54639039
71	PIM1	0.53659254
72	NTRK3	0.47747789
73	PDGFRB	0.46284335
74	CDC7	0.45634526
75	CDK19	0.45162938
76	NME1	0.44724111
77	MAP4K2	0.44113738
78	CDK8	0.43674026
79	MAPK11	0.42570445
80	ATM	0.42455373
81	MYLK	0.42112542
82	MAP3K5	0.41924379
83	ABL1	0.39835273
84	TIE1	0.39147418
85	CSNK2A1	0.39048995
86	HCK	0.38969029
87	MAP3K1	0.38761396
88	ADRBK1	0.34708248
89	PTK2B	0.32836753
90	TRIM28	0.32607494
91	TESK2	0.31981668
92	VRK2	0.30486156
93	ABL2	0.29886306
94	PRKCI	0.29069147
95	MAP3K12	0.28975064
96	CSF1R	0.28759112
97	KDR	0.28628531
98	AURKA	0.28408322
99	ATR	0.28408270
100	BCR	0.27338807

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Regulation of autophagy_Homo sapiens_hsa04140	5.50943062
2	Proteasome_Homo sapiens_hsa03050	3.46759107
3	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.29782308
4	Mismatch repair_Homo sapiens_hsa03430	3.18410936
5	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.80592266
6	Protein export_Homo sapiens_hsa03060	2.68329672
7	Basal transcription factors_Homo sapiens_hsa03022	2.63123609
8	Propanoate metabolism_Homo sapiens_hsa00640	2.01586894
9	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.98622237
10	Allograft rejection_Homo sapiens_hsa05330	1.84766682
11	RNA polymerase_Homo sapiens_hsa03020	1.79928437
12	Folate biosynthesis_Homo sapiens_hsa00790	1.77633280
13	DNA replication_Homo sapiens_hsa03030	1.74415986
14	RNA transport_Homo sapiens_hsa03013	1.71009843
15	One carbon pool by folate_Homo sapiens_hsa00670	1.57078008
16	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.56100328
17	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.53323422
18	Fanconi anemia pathway_Homo sapiens_hsa03460	1.50933386
19	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.50174228
20	Rheumatoid arthritis_Homo sapiens_hsa05323	1.47987084
21	Ribosome_Homo sapiens_hsa03010	1.47579981
22	Asthma_Homo sapiens_hsa05310	1.45974654
23	Collecting duct acid secretion_Homo sapiens_hsa04966	1.44066125
24	Homologous recombination_Homo sapiens_hsa03440	1.42915267
25	Nucleotide excision repair_Homo sapiens_hsa03420	1.39494754
26	Base excision repair_Homo sapiens_hsa03410	1.39454448
27	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.38587782
28	RNA degradation_Homo sapiens_hsa03018	1.37784828
29	Linoleic acid metabolism_Homo sapiens_hsa00591	1.36229771
30	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.33471345
31	Steroid biosynthesis_Homo sapiens_hsa00100	1.33217761
32	Nitrogen metabolism_Homo sapiens_hsa00910	1.30090657
33	Non-homologous end-joining_Homo sapiens_hsa03450	1.24360307
34	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.21302447
35	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.20387453
36	Graft-versus-host disease_Homo sapiens_hsa05332	1.19865513
37	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.18640543
38	Oxidative phosphorylation_Homo sapiens_hsa00190	1.11401387
39	Primary immunodeficiency_Homo sapiens_hsa05340	1.10151979
40	Parkinsons disease_Homo sapiens_hsa05012	1.08767286
41	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.02530483
42	Huntingtons disease_Homo sapiens_hsa05016	1.00889243
43	T cell receptor signaling pathway_Homo sapiens_hsa04660	1.00764122
44	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.99147558
45	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.97802286
46	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.94514783
47	Type I diabetes mellitus_Homo sapiens_hsa04940	0.93659812
48	Caffeine metabolism_Homo sapiens_hsa00232	0.93636699
49	Pyrimidine metabolism_Homo sapiens_hsa00240	0.92537742
50	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.92214841
51	Ether lipid metabolism_Homo sapiens_hsa00565	0.89942583
52	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.89095230
53	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.87413698
54	ABC transporters_Homo sapiens_hsa02010	0.86022088
55	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.85112325
56	Purine metabolism_Homo sapiens_hsa00230	0.83192136
57	Phototransduction_Homo sapiens_hsa04744	0.78871571
58	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.78283869
59	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.77922431
60	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.71359324
61	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.70619299
62	p53 signaling pathway_Homo sapiens_hsa04115	0.66588359
63	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.64298161
64	Serotonergic synapse_Homo sapiens_hsa04726	0.60340679
65	Selenocompound metabolism_Homo sapiens_hsa00450	0.58872097
66	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.58701544
67	Platelet activation_Homo sapiens_hsa04611	0.56408345
68	Cell cycle_Homo sapiens_hsa04110	0.47277001
69	Sulfur relay system_Homo sapiens_hsa04122	0.46059169
70	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.44203735
71	beta-Alanine metabolism_Homo sapiens_hsa00410	0.42768441
72	Taste transduction_Homo sapiens_hsa04742	0.42369223
73	African trypanosomiasis_Homo sapiens_hsa05143	0.42085985
74	Fat digestion and absorption_Homo sapiens_hsa04975	0.40040255
75	Spliceosome_Homo sapiens_hsa03040	0.39896668
76	Circadian rhythm_Homo sapiens_hsa04710	0.39056094
77	Butanoate metabolism_Homo sapiens_hsa00650	0.37654145
78	Oocyte meiosis_Homo sapiens_hsa04114	0.36327607
79	Malaria_Homo sapiens_hsa05144	0.34123165
80	Legionellosis_Homo sapiens_hsa05134	0.33208329
81	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.33114876
82	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.32547326
83	Mineral absorption_Homo sapiens_hsa04978	0.32407463
84	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.32405114
85	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.32082573
86	Antigen processing and presentation_Homo sapiens_hsa04612	0.29244632
87	Metabolic pathways_Homo sapiens_hsa01100	0.29018472
88	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.28312805
89	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.27757944
90	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.26199647
91	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.25665185
92	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.25310266
93	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.25291446
94	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.24777729
95	Shigellosis_Homo sapiens_hsa05131	0.24742968
96	Toxoplasmosis_Homo sapiens_hsa05145	0.24590350
97	Endocytosis_Homo sapiens_hsa04144	0.24235038
98	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.23686985
99	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.23536789
100	Retinol metabolism_Homo sapiens_hsa00830	0.22314702

BCAS2P1

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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