ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	male meiosis I (GO:0007141)	9.92045574
2	chromosome organization involved in meiosis (GO:0070192)	9.58858379
3	DNA methylation involved in gamete generation (GO:0043046)	9.14333450
4	male meiosis (GO:0007140)	8.69456458
5	synaptonemal complex assembly (GO:0007130)	8.05450363
6	meiosis I (GO:0007127)	7.80590718
7	synaptonemal complex organization (GO:0070193)	7.67051557
8	DNA synthesis involved in DNA repair (GO:0000731)	7.33028908
9	meiotic nuclear division (GO:0007126)	6.78212545
10	reciprocal DNA recombination (GO:0035825)	5.72071979
11	reciprocal meiotic recombination (GO:0007131)	5.72071979
12	meiotic cell cycle process (GO:1903046)	5.53129947
13	regulation of meiosis I (GO:0060631)	5.49514540
14	resolution of meiotic recombination intermediates (GO:0000712)	5.00643974
15	gene silencing by RNA (GO:0031047)	4.66526456
16	sister chromatid cohesion (GO:0007062)	4.64473233
17	meiotic chromosome segregation (GO:0045132)	4.27832519
18	proteasome assembly (GO:0043248)	4.20483822
19	positive regulation of meiosis (GO:0045836)	3.59724329
20	DNA deamination (GO:0045006)	3.50446668
21	DNA alkylation (GO:0006305)	3.39121746
22	DNA methylation (GO:0006306)	3.39121746
23	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.38505685
24	regulation of mitotic spindle checkpoint (GO:1903504)	3.38505685
25	positive regulation of meiotic cell cycle (GO:0051446)	3.33687279
26	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	3.21850087
27	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	3.21850087
28	isotype switching (GO:0045190)	3.21850087
29	regulation of DNA endoreduplication (GO:0032875)	3.16157752
30	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	3.10410684
31	regulation of cilium movement (GO:0003352)	3.09496540
32	DNA catabolic process, exonucleolytic (GO:0000738)	3.06261511
33	female gamete generation (GO:0007292)	3.04205593
34	protein K6-linked ubiquitination (GO:0085020)	3.03749187
35	regulation of meiotic cell cycle (GO:0051445)	2.96107826
36	regulation of immunoglobulin secretion (GO:0051023)	2.95429351
37	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.95253028
38	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.94474838
39	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.94474838
40	DNA methylation or demethylation (GO:0044728)	2.84263311
41	rRNA modification (GO:0000154)	2.84003084
42	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.83632016
43	meiotic cell cycle (GO:0051321)	2.81220762
44	maturation of 5.8S rRNA (GO:0000460)	2.78593620
45	L-fucose catabolic process (GO:0042355)	2.78539222
46	fucose catabolic process (GO:0019317)	2.78539222
47	L-fucose metabolic process (GO:0042354)	2.78539222
48	histone H2A acetylation (GO:0043968)	2.76037982
49	DNA modification (GO:0006304)	2.74601277
50	axoneme assembly (GO:0035082)	2.72758728
51	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.71718901
52	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.71718901
53	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.70990284
54	rRNA methylation (GO:0031167)	2.64599108
55	regulation of microtubule-based movement (GO:0060632)	2.64350120
56	histone exchange (GO:0043486)	2.62097416
57	DNA biosynthetic process (GO:0071897)	2.61388308
58	negative regulation of gene silencing (GO:0060969)	2.61008326
59	cellular response to interleukin-15 (GO:0071350)	2.58880421
60	rRNA catabolic process (GO:0016075)	2.58820279
61	spermatid development (GO:0007286)	2.57190545
62	attachment of spindle microtubules to kinetochore (GO:0008608)	2.55030428
63	preassembly of GPI anchor in ER membrane (GO:0016254)	2.54721646
64	photoreceptor cell maintenance (GO:0045494)	2.54709701
65	water-soluble vitamin biosynthetic process (GO:0042364)	2.51886679
66	DNA recombination (GO:0006310)	2.51598894
67	respiratory chain complex IV assembly (GO:0008535)	2.51468765
68	double-strand break repair via homologous recombination (GO:0000724)	2.50628767
69	somatic diversification of immunoglobulins (GO:0016445)	2.50078753
70	regulation of memory T cell differentiation (GO:0043380)	2.48447282
71	recombinational repair (GO:0000725)	2.47490535
72	mitotic sister chromatid cohesion (GO:0007064)	2.47028402
73	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	2.43916968
74	fertilization (GO:0009566)	2.43161307
75	mismatch repair (GO:0006298)	2.40600263
76	DNA double-strand break processing (GO:0000729)	2.40498401
77	regulation of isotype switching to IgG isotypes (GO:0048302)	2.40496441
78	regulation of transcription from RNA polymerase I promoter (GO:0006356)	2.40249219
79	sperm-egg recognition (GO:0035036)	2.38327940
80	positive regulation of response to oxidative stress (GO:1902884)	2.37025985
81	positive regulation of cellular response to oxidative stress (GO:1900409)	2.37025985
82	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.34558590
83	gene silencing (GO:0016458)	2.33767501
84	pseudouridine synthesis (GO:0001522)	2.33763237
85	somatic recombination of immunoglobulin gene segments (GO:0016447)	2.33752162
86	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.33239274
87	regulation of cellular amino acid metabolic process (GO:0006521)	2.31179160
88	tRNA processing (GO:0008033)	2.30884177
89	indole-containing compound catabolic process (GO:0042436)	2.30160814
90	indolalkylamine catabolic process (GO:0046218)	2.30160814
91	tryptophan catabolic process (GO:0006569)	2.30160814
92	chromosome organization (GO:0051276)	2.29913492
93	protein complex biogenesis (GO:0070271)	2.29693570
94	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.29299093
95	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.28432269
96	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.28432269
97	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.28432269
98	sperm motility (GO:0030317)	2.28328274
99	synapsis (GO:0007129)	12.7628716
100	piRNA metabolic process (GO:0034587)	11.7407134

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.28763738
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.16753377
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.03587782
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.91435182
5	VDR_22108803_ChIP-Seq_LS180_Human	2.77601091
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.74886125
7	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.60461843
8	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.56019892
9	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.55423173
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.53171250
11	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.52414602
12	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.34160520
13	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.32419463
14	VDR_23849224_ChIP-Seq_CD4+_Human	2.26090756
15	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.13595236
16	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.13519383
17	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.12476106
18	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.02795479
19	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.96872356
20	ELK1_19687146_ChIP-ChIP_HELA_Human	1.96653195
21	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.92857731
22	MYC_18940864_ChIP-ChIP_HL60_Human	1.88923802
23	TP53_22573176_ChIP-Seq_HFKS_Human	1.87954639
24	FUS_26573619_Chip-Seq_HEK293_Human	1.76764321
25	EWS_26573619_Chip-Seq_HEK293_Human	1.71831081
26	* ER_23166858_ChIP-Seq_MCF-7_Human	1.70388356
27	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.69438227
28	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.66235980
29	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.65247638
30	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.64291065
31	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.59640969
32	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.59327283
33	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.57244497
34	TAF15_26573619_Chip-Seq_HEK293_Human	1.57221674
35	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.56404035
36	* FOXA1_25329375_ChIP-Seq_VCAP_Human	1.54786368
37	* FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.54786368
38	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.52496518
39	FOXP3_21729870_ChIP-Seq_TREG_Human	1.52174107
40	P300_19829295_ChIP-Seq_ESCs_Human	1.51508074
41	BCAT_22108803_ChIP-Seq_LS180_Human	1.49097941
42	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.48972755
43	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.48806739
44	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.48330707
45	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.46798133
46	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.46346340
47	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.44670550
48	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.37701095
49	AR_20517297_ChIP-Seq_VCAP_Human	1.37409923
50	GATA3_26560356_Chip-Seq_TH2_Human	1.37366080
51	HOXB7_26014856_ChIP-Seq_BT474_Human	1.36037941
52	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.33792650
53	SOX2_19829295_ChIP-Seq_ESCs_Human	1.32735031
54	NANOG_19829295_ChIP-Seq_ESCs_Human	1.32735031
55	RNF2_27304074_Chip-Seq_NSC_Mouse	1.31553394
56	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.31082827
57	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.30649088
58	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.29771674
59	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.29177575
60	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.26790113
61	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.25544954
62	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.25488282
63	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.24771853
64	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.23359440
65	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.23198173
66	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.21905453
67	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.20663839
68	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.17270276
69	* FOXH1_21741376_ChIP-Seq_EPCs_Human	1.16619781
70	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.15455674
71	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.15341516
72	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.14245449
73	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.12794336
74	* IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.12346565
75	* CBP_20019798_ChIP-Seq_JUKART_Human	1.12346565
76	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.10798248
77	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.08971112
78	GATA3_26560356_Chip-Seq_TH1_Human	1.08831259
79	* TCF4_23295773_ChIP-Seq_U87_Human	1.07599683
80	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.07164862
81	DCP1A_22483619_ChIP-Seq_HELA_Human	1.05955277
82	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.05473092
83	CDX2_22108803_ChIP-Seq_LS180_Human	1.05389657
84	* STAT3_23295773_ChIP-Seq_U87_Human	1.05094572
85	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.03791853
86	ERA_21632823_ChIP-Seq_H3396_Human	1.03640661
87	* TCF4_22108803_ChIP-Seq_LS180_Human	1.02610856
88	ETV1_20927104_ChIP-Seq_GIST48_Human	1.02394656
89	NCOR_22424771_ChIP-Seq_293T_Human	1.01879291
90	AR_25329375_ChIP-Seq_VCAP_Human	1.01337239
91	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.01111841
92	* GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	1.00816235
93	PHF8_20622853_ChIP-Seq_HELA_Human	1.00479009
94	RUNX2_22187159_ChIP-Seq_PCA_Human	0.98604424
95	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.97928568
96	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	0.97754144
97	KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.97725530
98	RBPJ_21746931_ChIP-Seq_IB4_Human	0.97500961
99	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.97328489
100	* GATA3_21878914_ChIP-Seq_MCF-7_Human	0.97289189

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	8.31002570
2	MP0008058_abnormal_DNA_repair	3.69975300
3	MP0002210_abnormal_sex_determination	3.21115117
4	MP0001929_abnormal_gametogenesis	2.92474347
5	MP0002160_abnormal_reproductive_system	2.58391999
6	MP0001145_abnormal_male_reproductive	2.48267999
7	MP0000653_abnormal_sex_gland	2.37332178
8	MP0003698_abnormal_male_reproductive	2.35325744
9	MP0003646_muscle_fatigue	2.33696539
10	MP0005389_reproductive_system_phenotype	2.14452654
11	MP0003195_calcinosis	2.11578540
12	MP0000383_abnormal_hair_follicle	2.08168250
13	MP0006072_abnormal_retinal_apoptosis	2.00944539
14	MP0002876_abnormal_thyroid_physiology	1.99078305
15	MP0005671_abnormal_response_to	1.94470434
16	MP0003786_premature_aging	1.94457031
17	MP0001661_extended_life_span	1.88696479
18	MP0002138_abnormal_hepatobiliary_system	1.88422713
19	MP0001119_abnormal_female_reproductive	1.83440293
20	MP0008057_abnormal_DNA_replication	1.80875945
21	MP0000569_abnormal_digit_pigmentation	1.80711871
22	MP0005410_abnormal_fertilization	1.72908461
23	MP0001835_abnormal_antigen_presentation	1.71204122
24	MP0003718_maternal_effect	1.69212828
25	MP0000427_abnormal_hair_cycle	1.68153588
26	MP0002163_abnormal_gland_morphology	1.64712740
27	MP0005646_abnormal_pituitary_gland	1.59385336
28	MP0002102_abnormal_ear_morphology	1.58305484
29	MP0002837_dystrophic_cardiac_calcinosis	1.52945088
30	MP0008875_abnormal_xenobiotic_pharmacok	1.52906878
31	MP0010678_abnormal_skin_adnexa	1.50503455
32	MP0008007_abnormal_cellular_replicative	1.50120644
33	MP0001501_abnormal_sleep_pattern	1.46803429
34	MP0001986_abnormal_taste_sensitivity	1.45922038
35	MP0001984_abnormal_olfaction	1.45916738
36	MP0004147_increased_porphyrin_level	1.45114095
37	MP0008995_early_reproductive_senescence	1.44694956
38	MP0005379_endocrine/exocrine_gland_phen	1.44216988
39	MP0000685_abnormal_immune_system	1.42654218
40	MP0008872_abnormal_physiological_respon	1.39594595
41	MP0005551_abnormal_eye_electrophysiolog	1.34579225
42	MP0010094_abnormal_chromosome_stability	1.33801578
43	MP0005253_abnormal_eye_physiology	1.30331190
44	MP0005075_abnormal_melanosome_morpholog	1.30293819
45	MP0001968_abnormal_touch/_nociception	1.29384266
46	MP0005174_abnormal_tail_pigmentation	1.27488526
47	MP0004885_abnormal_endolymph	1.23354975
48	MP0000372_irregular_coat_pigmentation	1.15363340
49	MP0004043_abnormal_pH_regulation	1.14586707
50	MP0001919_abnormal_reproductive_system	1.09838169
51	MP0005645_abnormal_hypothalamus_physiol	1.08181934
52	MP0002736_abnormal_nociception_after	1.07227047
53	MP0005167_abnormal_blood-brain_barrier	1.07064763
54	MP0006036_abnormal_mitochondrial_physio	1.05043902
55	MP0002161_abnormal_fertility/fecundity	1.04610176
56	MP0003763_abnormal_thymus_physiology	1.00717685
57	MP0003693_abnormal_embryo_hatching	1.00680366
58	MP0004145_abnormal_muscle_electrophysio	0.98560131
59	MP0006035_abnormal_mitochondrial_morpho	0.97194734
60	MP0004215_abnormal_myocardial_fiber	0.96335128
61	MP0002095_abnormal_skin_pigmentation	0.95949199
62	MP0004742_abnormal_vestibular_system	0.92957743
63	MP0005310_abnormal_salivary_gland	0.91367176
64	MP0005084_abnormal_gallbladder_morpholo	0.90138268
65	MP0001790_abnormal_immune_system	0.89603915
66	MP0005387_immune_system_phenotype	0.89603915
67	MP0003699_abnormal_female_reproductive	0.87322505
68	MP0001764_abnormal_homeostasis	0.87195579
69	MP0001800_abnormal_humoral_immune	0.86079692
70	MP0006292_abnormal_olfactory_placode	0.83707617
71	MP0005332_abnormal_amino_acid	0.83085360
72	MP0009785_altered_susceptibility_to	0.80960899
73	MP0002148_abnormal_hypersensitivity_rea	0.80710070
74	MP0003943_abnormal_hepatobiliary_system	0.80022405
75	MP0004142_abnormal_muscle_tone	0.79984610
76	MP0001873_stomach_inflammation	0.77519416
77	MP0002166_altered_tumor_susceptibility	0.76027237
78	MP0002693_abnormal_pancreas_physiology	0.75460986
79	MP0008775_abnormal_heart_ventricle	0.74441496
80	MP0000013_abnormal_adipose_tissue	0.70658492
81	MP0000647_abnormal_sebaceous_gland	0.69910963
82	MP0005000_abnormal_immune_tolerance	0.69837433
83	MP0002723_abnormal_immune_serum	0.68528337
84	MP0003011_delayed_dark_adaptation	0.68082317
85	MP0010368_abnormal_lymphatic_system	0.68016625
86	MP0001243_abnormal_dermal_layer	0.67286891
87	MP0002928_abnormal_bile_duct	0.66536564
88	MP0002272_abnormal_nervous_system	0.64645614
89	MP0009764_decreased_sensitivity_to	0.64084565
90	MP0001765_abnormal_ion_homeostasis	0.62990781
91	MP0002006_tumorigenesis	0.62701521
92	MP0005636_abnormal_mineral_homeostasis	0.61131714
93	MP0005365_abnormal_bile_salt	0.60935489
94	MP0001502_abnormal_circadian_rhythm	0.60482909
95	MP0003119_abnormal_digestive_system	0.59980351
96	MP0009745_abnormal_behavioral_response	0.58973073
97	MP0001188_hyperpigmentation	0.58489708
98	MP0000631_abnormal_neuroendocrine_gland	0.58347911
99	MP0003567_abnormal_fetal_cardiomyocyte	0.58072190
100	MP0004019_abnormal_vitamin_homeostasis	0.57324554

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Congenital, generalized hypertrichosis (HP:0004540)	4.12360668
2	Azoospermia (HP:0000027)	3.91163880
3	Abnormality of the renal cortex (HP:0011035)	3.85278507
4	Nephronophthisis (HP:0000090)	3.58645792
5	Pancreatic cysts (HP:0001737)	3.56037852
6	Abnormality of the renal medulla (HP:0100957)	3.45151364
7	Abnormal spermatogenesis (HP:0008669)	3.36060025
8	Volvulus (HP:0002580)	3.11083245
9	Oligodactyly (hands) (HP:0001180)	3.11033077
10	Type II lissencephaly (HP:0007260)	3.10570494
11	IgG deficiency (HP:0004315)	3.07874499
12	Delayed CNS myelination (HP:0002188)	3.06010999
13	Gonadotropin excess (HP:0000837)	2.81700205
14	Type I transferrin isoform profile (HP:0003642)	2.80039511
15	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.69437680
16	Abnormal protein N-linked glycosylation (HP:0012347)	2.69437680
17	Abnormal protein glycosylation (HP:0012346)	2.69437680
18	Abnormal glycosylation (HP:0012345)	2.69437680
19	Renal cortical cysts (HP:0000803)	2.67314219
20	Methylmalonic acidemia (HP:0002912)	2.64909128
21	Abnormality of the pons (HP:0007361)	2.63860211
22	Aplasia/hypoplasia of the uterus (HP:0008684)	2.59802273
23	Pancreatic fibrosis (HP:0100732)	2.57831724
24	Congenital stationary night blindness (HP:0007642)	2.56241175
25	Hypoplasia of the pons (HP:0012110)	2.55170295
26	Molar tooth sign on MRI (HP:0002419)	2.52456028
27	Abnormality of midbrain morphology (HP:0002418)	2.52456028
28	Stomatitis (HP:0010280)	2.49954021
29	Amyotrophic lateral sclerosis (HP:0007354)	2.48324140
30	Tubulointerstitial nephritis (HP:0001970)	2.46251476
31	Spontaneous abortion (HP:0005268)	2.43260442
32	Rimmed vacuoles (HP:0003805)	2.42313332
33	Abnormality of alanine metabolism (HP:0010916)	2.42302448
34	Hyperalaninemia (HP:0003348)	2.42302448
35	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.42302448
36	Meckel diverticulum (HP:0002245)	2.41601762
37	Abnormality of the ileum (HP:0001549)	2.38026456
38	3-Methylglutaconic aciduria (HP:0003535)	2.30287184
39	Ectopic kidney (HP:0000086)	2.29650528
40	Abnormal biliary tract physiology (HP:0012439)	2.29405214
41	Bile duct proliferation (HP:0001408)	2.29405214
42	Duplicated collecting system (HP:0000081)	2.27552786
43	Tubular atrophy (HP:0000092)	2.23791851
44	Atrophy/Degeneration involving motor neurons (HP:0007373)	2.23559674
45	Fair hair (HP:0002286)	2.22296798
46	Medial flaring of the eyebrow (HP:0010747)	2.20685422
47	True hermaphroditism (HP:0010459)	2.20395410
48	Increased CSF lactate (HP:0002490)	2.20381382
49	Degeneration of anterior horn cells (HP:0002398)	2.16899947
50	Abnormality of the anterior horn cell (HP:0006802)	2.16899947
51	Shoulder girdle muscle weakness (HP:0003547)	2.13936055
52	Abolished electroretinogram (ERG) (HP:0000550)	2.13612181
53	Hypothermia (HP:0002045)	2.13203466
54	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.12694622
55	Abnormality of T cell physiology (HP:0011840)	2.11059754
56	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.10811073
57	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.10811073
58	Abnormality of the renal collecting system (HP:0004742)	2.10003103
59	Thyroiditis (HP:0100646)	2.09055314
60	Acute necrotizing encephalopathy (HP:0006965)	2.08035900
61	Progressive macrocephaly (HP:0004481)	2.05910165
62	Attenuation of retinal blood vessels (HP:0007843)	2.03995503
63	Abnormal drinking behavior (HP:0030082)	2.03036682
64	Polydipsia (HP:0001959)	2.03036682
65	Mitochondrial inheritance (HP:0001427)	2.02265077
66	Absent thumb (HP:0009777)	2.00397738
67	Lipid accumulation in hepatocytes (HP:0006561)	1.99329083
68	Methylmalonic aciduria (HP:0012120)	1.97297472
69	Duodenal stenosis (HP:0100867)	1.95309747
70	Small intestinal stenosis (HP:0012848)	1.95309747
71	Chromsome breakage (HP:0040012)	1.92657899
72	Oligodactyly (HP:0012165)	1.90417074
73	Clubbing of toes (HP:0100760)	1.89354950
74	Brittle hair (HP:0002299)	1.88460743
75	Acute encephalopathy (HP:0006846)	1.88246284
76	Congenital hepatic fibrosis (HP:0002612)	1.88230615
77	Abnormality of DNA repair (HP:0003254)	1.87718679
78	Abnormality of eosinophils (HP:0001879)	1.87044337
79	Hepatic necrosis (HP:0002605)	1.85810497
80	Severe combined immunodeficiency (HP:0004430)	1.84403255
81	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.84369974
82	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.80845744
83	Scotoma (HP:0000575)	1.80029348
84	Supernumerary spleens (HP:0009799)	1.79331000
85	Hypoplasia of the uterus (HP:0000013)	1.79139993
86	Cystic liver disease (HP:0006706)	1.79040136
87	Non-midline cleft lip (HP:0100335)	1.75806011
88	Abnormality of vitamin B metabolism (HP:0004340)	1.75416103
89	Chronic diarrhea (HP:0002028)	1.75131356
90	Hepatocellular necrosis (HP:0001404)	1.74071623
91	Tubulointerstitial abnormality (HP:0001969)	1.74071082
92	Abnormality of the preputium (HP:0100587)	1.73587502
93	Abnormality of T cells (HP:0002843)	1.72346404
94	Increased serum lactate (HP:0002151)	1.71807694
95	Abnormal mitochondria in muscle tissue (HP:0008316)	1.71236832
96	Abnormality of the duodenum (HP:0002246)	1.70825487
97	Stomach cancer (HP:0012126)	1.70363934
98	Increased hepatocellular lipid droplets (HP:0006565)	1.70128912
99	Horizontal nystagmus (HP:0000666)	1.69871210
100	Abnormal rod and cone electroretinograms (HP:0008323)	1.69840381

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	3.53704381
2	TXK	3.47287981
3	PNCK	3.34166879
4	TAOK3	2.97564631
5	ZAK	2.91797038
6	TLK1	2.80872614
7	STK38L	2.51813445
8	NUAK1	2.51372618
9	OXSR1	2.40385753
10	MAP4K2	2.37183010
11	ADRBK2	2.30330323
12	MST4	2.15458580
13	PINK1	2.01320757
14	SRPK1	1.97201065
15	EIF2AK3	1.85389430
16	TSSK6	1.84609660
17	PLK2	1.82872294
18	ACVR1B	1.65249743
19	CDK19	1.64593552
20	GRK1	1.62158020
21	WNK4	1.53515412
22	EIF2AK1	1.51671528
23	INSRR	1.48927004
24	PHKG1	1.47755351
25	PHKG2	1.47755351
26	PDK2	1.47069149
27	PLK4	1.45841604
28	BMPR1B	1.44997224
29	PTK2B	1.44648634
30	MUSK	1.41831984
31	MET	1.24604128
32	VRK1	1.23337823
33	STK39	1.19265120
34	PLK3	1.14161908
35	IKBKB	1.11373483
36	VRK2	1.08038937
37	MAP2K2	1.07454748
38	WNK3	1.06583620
39	NEK1	1.05655678
40	FES	1.00433491
41	MAP3K14	1.00122113
42	BCKDK	0.98203398
43	EIF2AK2	0.96306356
44	DAPK2	0.88500922
45	PRKCI	0.86556069
46	OBSCN	0.85263779
47	TAF1	0.84237578
48	CSF1R	0.84225606
49	BUB1	0.83659617
50	PLK1	0.82160850
51	MKNK2	0.81663913
52	PASK	0.80651728
53	TTK	0.80308434
54	MAP2K6	0.79451118
55	GRK7	0.79355958
56	NME1	0.78516571
57	TIE1	0.73949197
58	NEK9	0.70981040
59	STK3	0.69661925
60	ATR	0.66172637
61	FER	0.64148334
62	CSNK1G1	0.63729886
63	NLK	0.61571803
64	IGF1R	0.58543459
65	FGFR2	0.57727399
66	ITK	0.56983268
67	WEE1	0.54939208
68	PRKCE	0.54932060
69	BCR	0.52684005
70	BRD4	0.52495140
71	STK38	0.51370076
72	ATM	0.50161620
73	WNK1	0.48879392
74	ADRBK1	0.48641113
75	ERBB3	0.48509636
76	IKBKE	0.46742517
77	CSNK1G3	0.46384831
78	AKT3	0.46132248
79	CSNK1G2	0.46010121
80	KIT	0.43781983
81	BRSK2	0.43442978
82	GRK6	0.42891812
83	MAPK13	0.42237793
84	PRKCQ	0.41448409
85	EGFR	0.40487950
86	TRIM28	0.38214715
87	MKNK1	0.36658370
88	CHUK	0.36558116
89	BMPR2	0.36460787
90	MAP3K4	0.36267811
91	RPS6KA5	0.36173727
92	TGFBR2	0.35733544
93	CDK3	0.35729464
94	CAMK1G	0.33414952
95	STK16	0.32485031
96	FGFR3	0.30732463
97	PIK3CA	0.30204863
98	GRK5	0.28887687
99	PBK	0.27722237
100	MAPKAPK3	0.26639656

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.78314416
2	Homologous recombination_Homo sapiens_hsa03440	3.35702187
3	Protein export_Homo sapiens_hsa03060	2.71091009
4	Mismatch repair_Homo sapiens_hsa03430	2.62261751
5	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.60261944
6	Fanconi anemia pathway_Homo sapiens_hsa03460	2.26085045
7	Propanoate metabolism_Homo sapiens_hsa00640	2.24812701
8	Non-homologous end-joining_Homo sapiens_hsa03450	2.20083410
9	RNA degradation_Homo sapiens_hsa03018	2.07926197
10	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.04917737
11	Basal transcription factors_Homo sapiens_hsa03022	2.04514989
12	RNA polymerase_Homo sapiens_hsa03020	2.02097444
13	Phototransduction_Homo sapiens_hsa04744	1.99924724
14	Asthma_Homo sapiens_hsa05310	1.98869352
15	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.88467066
16	RNA transport_Homo sapiens_hsa03013	1.85270988
17	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.82500706
18	Allograft rejection_Homo sapiens_hsa05330	1.80516739
19	Nucleotide excision repair_Homo sapiens_hsa03420	1.79198590
20	Oxidative phosphorylation_Homo sapiens_hsa00190	1.74668182
21	Selenocompound metabolism_Homo sapiens_hsa00450	1.70541985
22	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.67782840
23	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.65058521
24	Parkinsons disease_Homo sapiens_hsa05012	1.53184397
25	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.52583125
26	Linoleic acid metabolism_Homo sapiens_hsa00591	1.52474338
27	DNA replication_Homo sapiens_hsa03030	1.51306990
28	Nitrogen metabolism_Homo sapiens_hsa00910	1.51217587
29	Type I diabetes mellitus_Homo sapiens_hsa04940	1.49022898
30	Primary immunodeficiency_Homo sapiens_hsa05340	1.46774201
31	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.46135228
32	Regulation of autophagy_Homo sapiens_hsa04140	1.40306802
33	One carbon pool by folate_Homo sapiens_hsa00670	1.36603132
34	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.32827265
35	Graft-versus-host disease_Homo sapiens_hsa05332	1.29703550
36	Tryptophan metabolism_Homo sapiens_hsa00380	1.29543512
37	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.26925603
38	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.24432837
39	Peroxisome_Homo sapiens_hsa04146	1.21852313
40	Caffeine metabolism_Homo sapiens_hsa00232	1.15387892
41	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.06869057
42	Pyrimidine metabolism_Homo sapiens_hsa00240	1.06677704
43	Purine metabolism_Homo sapiens_hsa00230	1.06036452
44	Antigen processing and presentation_Homo sapiens_hsa04612	1.05531913
45	Butanoate metabolism_Homo sapiens_hsa00650	1.04539182
46	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.02868897
47	Huntingtons disease_Homo sapiens_hsa05016	1.02337314
48	beta-Alanine metabolism_Homo sapiens_hsa00410	1.01233854
49	Circadian rhythm_Homo sapiens_hsa04710	0.99463596
50	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.97913555
51	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.92645777
52	Sulfur metabolism_Homo sapiens_hsa00920	0.91958501
53	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.89984679
54	Oocyte meiosis_Homo sapiens_hsa04114	0.89846833
55	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.89375602
56	Base excision repair_Homo sapiens_hsa03410	0.88634337
57	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.87623793
58	Spliceosome_Homo sapiens_hsa03040	0.87248111
59	Ether lipid metabolism_Homo sapiens_hsa00565	0.87028900
60	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.86786053
61	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.85462979
62	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.77850635
63	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.71373774
64	Alzheimers disease_Homo sapiens_hsa05010	0.68321640
65	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.66407240
66	Rheumatoid arthritis_Homo sapiens_hsa05323	0.66193344
67	Retinol metabolism_Homo sapiens_hsa00830	0.65808215
68	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.65175561
69	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.63790213
70	Fatty acid elongation_Homo sapiens_hsa00062	0.60032003
71	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.59565085
72	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.59059575
73	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.58645278
74	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.57866074
75	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.54442955
76	Pyruvate metabolism_Homo sapiens_hsa00620	0.53680381
77	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.52811987
78	Metabolic pathways_Homo sapiens_hsa01100	0.52506940
79	Fatty acid degradation_Homo sapiens_hsa00071	0.51289508
80	ABC transporters_Homo sapiens_hsa02010	0.50675607
81	Cell cycle_Homo sapiens_hsa04110	0.50566076
82	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.48286615
83	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.44416284
84	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.43932600
85	Chemical carcinogenesis_Homo sapiens_hsa05204	0.43791256
86	Collecting duct acid secretion_Homo sapiens_hsa04966	0.43696657
87	mRNA surveillance pathway_Homo sapiens_hsa03015	0.42184798
88	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.40930110
89	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.40314405
90	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.37951977
91	p53 signaling pathway_Homo sapiens_hsa04115	0.35888513
92	Olfactory transduction_Homo sapiens_hsa04740	0.34772570
93	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.32975902
94	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.32551277
95	Fatty acid metabolism_Homo sapiens_hsa01212	0.32471862
96	Cardiac muscle contraction_Homo sapiens_hsa04260	0.30502994
97	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.30345691
98	Taste transduction_Homo sapiens_hsa04742	0.29972168
99	Glycerolipid metabolism_Homo sapiens_hsa00561	0.28772589
100	Phenylalanine metabolism_Homo sapiens_hsa00360	0.28642671

C14ORF39

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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