ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	fusion of sperm to egg plasma membrane (GO:0007342)	4.97810245
2	establishment of protein localization to Golgi (GO:0072600)	4.88872532
3	multicellular organism reproduction (GO:0032504)	4.77471831
4	UDP-N-acetylglucosamine metabolic process (GO:0006047)	4.70992664
5	protein targeting to Golgi (GO:0000042)	4.63324099
6	histone H2A acetylation (GO:0043968)	4.53741908
7	axoneme assembly (GO:0035082)	4.36820929
8	retrograde transport, vesicle recycling within Golgi (GO:0000301)	4.29865432
9	negative regulation of meiosis (GO:0045835)	4.25604615
10	cilium or flagellum-dependent cell motility (GO:0001539)	4.23829278
11	plasma membrane fusion (GO:0045026)	4.06555085
12	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.86770142
13	axonemal dynein complex assembly (GO:0070286)	3.79356680
14	regulation of cilium movement (GO:0003352)	3.71051298
15	negative regulation of complement activation (GO:0045916)	3.68312787
16	cilium movement (GO:0003341)	3.68053315
17	CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)	3.61133224
18	T-helper cell differentiation (GO:0042093)	3.61133224
19	ER overload response (GO:0006983)	3.58215494
20	nonmotile primary cilium assembly (GO:0035058)	3.55078188
21	retinal cone cell development (GO:0046549)	3.46043135
22	muscle atrophy (GO:0014889)	3.42011042
23	histone H3-K4 trimethylation (GO:0080182)	3.41053517
24	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	3.39200277
25	acrosome reaction (GO:0007340)	3.38251169
26	negative regulation of protein activation cascade (GO:2000258)	3.36915252
27	regulation of gonadotropin secretion (GO:0032276)	3.36524701
28	positive regulation of granulocyte differentiation (GO:0030854)	3.34924618
29	blood vessel maturation (GO:0001955)	3.27782826
30	nerve growth factor signaling pathway (GO:0038180)	3.27555307
31	protein K11-linked deubiquitination (GO:0035871)	3.27397600
32	cellular response to sterol (GO:0036315)	3.25998950
33	photoreceptor cell maintenance (GO:0045494)	3.25938787
34	regulation of establishment of cell polarity (GO:2000114)	3.22915465
35	positive regulation of chemokine secretion (GO:0090197)	3.21752875
36	phagocytosis, recognition (GO:0006910)	3.17341430
37	positive regulation of histone H3-K4 methylation (GO:0051571)	3.11491438
38	reproduction (GO:0000003)	3.10124982
39	peptidyl-lysine trimethylation (GO:0018023)	3.07933224
40	nucleoside diphosphate catabolic process (GO:0009134)	3.06620117
41	regulation of macrophage activation (GO:0043030)	3.06012074
42	protein localization to Golgi apparatus (GO:0034067)	3.06001153
43	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	3.04882393
44	intra-Golgi vesicle-mediated transport (GO:0006891)	3.04732992
45	T cell differentiation involved in immune response (GO:0002292)	3.04041259
46	alpha-beta T cell differentiation involved in immune response (GO:0002293)	3.04041259
47	alpha-beta T cell activation involved in immune response (GO:0002287)	3.04041259
48	snRNA transcription (GO:0009301)	3.00304322
49	cellular response to glucose starvation (GO:0042149)	3.00285765
50	signal peptide processing (GO:0006465)	2.98413311
51	negative regulation of calcium ion transport into cytosol (GO:0010523)	2.97499719
52	CD4-positive, alpha-beta T cell differentiation (GO:0043367)	2.93116523
53	protein prenylation (GO:0018342)	2.92055908
54	prenylation (GO:0097354)	2.92055908
55	positive regulation of circadian rhythm (GO:0042753)	2.91309171
56	adaptation of signaling pathway (GO:0023058)	2.89193439
57	peptidyl-lysine methylation (GO:0018022)	2.86475276
58	DNA double-strand break processing (GO:0000729)	2.86046696
59	AMP metabolic process (GO:0046033)	2.83711875
60	regulation of protein glycosylation (GO:0060049)	2.81575067
61	nucleotide-sugar metabolic process (GO:0009225)	2.80908526
62	intestinal epithelial cell development (GO:0060576)	2.79626691
63	peptidyl-histidine modification (GO:0018202)	2.78844016
64	response to sterol (GO:0036314)	2.76426479
65	epithelial cilium movement (GO:0003351)	2.74510463
66	regulation of chemokine secretion (GO:0090196)	2.71214681
67	definitive hemopoiesis (GO:0060216)	2.70591981
68	RNA destabilization (GO:0050779)	2.69880608
69	positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)	2.69837557
70	regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)	2.69837557
71	histone H3-K9 methylation (GO:0051567)	2.67162682
72	regulation of establishment or maintenance of cell polarity (GO:0032878)	2.67046276
73	nitric oxide biosynthetic process (GO:0006809)	2.66394420
74	behavioral response to ethanol (GO:0048149)	2.65680759
75	keratinocyte development (GO:0003334)	2.64636767
76	positive regulation of response to oxidative stress (GO:1902884)	2.64124746
77	positive regulation of cellular response to oxidative stress (GO:1900409)	2.64124746
78	purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)	2.63507670
79	negative regulation of humoral immune response (GO:0002921)	2.62088407
80	regulation of pigment cell differentiation (GO:0050932)	2.61691295
81	positive regulation of neurotransmitter transport (GO:0051590)	2.61006627
82	regulation of DNA endoreduplication (GO:0032875)	2.59427827
83	protein palmitoylation (GO:0018345)	2.57539249
84	tachykinin receptor signaling pathway (GO:0007217)	2.57174323
85	heparin biosynthetic process (GO:0030210)	2.56268915
86	heparin metabolic process (GO:0030202)	2.56268915
87	negative regulation of meiotic cell cycle (GO:0051447)	2.55842585
88	negative regulation of neurotransmitter secretion (GO:0046929)	2.53490429
89	exogenous drug catabolic process (GO:0042738)	2.52998354
90	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.52636318
91	CD4-positive, alpha-beta T cell activation (GO:0035710)	2.52132354
92	eosinophil chemotaxis (GO:0048245)	2.51176676
93	regulation of growth hormone secretion (GO:0060123)	2.50055546
94	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO	2.49776191
95	regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)	2.49776191
96	methionine biosynthetic process (GO:0009086)	2.49448011
97	cerebellar Purkinje cell differentiation (GO:0021702)	2.47915452
98	negative regulation of NF-kappaB import into nucleus (GO:0042347)	2.47373496
99	regulation of histone H3-K4 methylation (GO:0051569)	2.46881480
100	positive regulation of neurotransmitter secretion (GO:0001956)	2.46876271

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	7.80387183
2	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	3.24424904
3	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	3.02981314
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.55529672
5	VDR_22108803_ChIP-Seq_LS180_Human	2.44018197
6	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.42508920
7	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.25342988
8	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.21955204
9	IGF1R_20145208_ChIP-Seq_DFB_Human	2.08991939
10	AR_21572438_ChIP-Seq_LNCaP_Human	2.05462288
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.00964316
12	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.94264406
13	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.91568990
14	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.90436663
15	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.88003357
16	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.86704554
17	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.79258602
18	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.77646733
19	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.76993506
20	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.74401266
21	CDX2_22108803_ChIP-Seq_LS180_Human	1.72518298
22	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.71944823
23	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.71163261
24	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.68509907
25	GATA1_22025678_ChIP-Seq_K562_Human	1.65541148
26	SMAD4_21799915_ChIP-Seq_A2780_Human	1.60307746
27	AHR_22903824_ChIP-Seq_MCF-7_Human	1.60012400
28	GBX2_23144817_ChIP-Seq_PC3_Human	1.56871442
29	TAF15_26573619_Chip-Seq_HEK293_Human	1.56055647
30	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.55697544
31	P300_19829295_ChIP-Seq_ESCs_Human	1.53733164
32	ER_23166858_ChIP-Seq_MCF-7_Human	1.51782266
33	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.51729591
34	CBP_20019798_ChIP-Seq_JUKART_Human	1.51729591
35	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.51696890
36	ELK1_19687146_ChIP-ChIP_HELA_Human	1.48238926
37	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.47470547
38	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.47324439
39	ZNF274_21170338_ChIP-Seq_K562_Hela	1.43722569
40	STAT3_23295773_ChIP-Seq_U87_Human	1.41425569
41	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.41032874
42	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.40920136
43	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.40458654
44	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.37090557
45	RUNX_20019798_ChIP-Seq_JUKART_Human	1.36724836
46	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.36392596
47	TCF4_23295773_ChIP-Seq_U87_Human	1.36268095
48	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.35061542
49	FOXA1_26743006_Chip-Seq_LNCaP-abl_Human	1.34615935
50	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.33800189
51	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.33497538
52	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.29983338
53	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.27910941
54	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.26626470
55	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.26112843
56	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.22409574
57	IRF1_19129219_ChIP-ChIP_H3396_Human	1.21317371
58	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.21295322
59	SCL_19346495_ChIP-Seq_HPC-7_Human	1.19726224
60	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.19538566
61	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.17268543
62	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.16760157
63	STAT3_20064451_ChIP-Seq_CD4+T_Mouse	1.16605974
64	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.16552680
65	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.16037759
66	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.13663453
67	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.13241364
68	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.09387607
69	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.08364354
70	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.08364354
71	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.07884079
72	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.06835081
73	AR_25329375_ChIP-Seq_VCAP_Human	1.06559761
74	FUS_26573619_Chip-Seq_HEK293_Human	1.05967702
75	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.05467030
76	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.03991755
77	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.03636161
78	GATA3_26560356_Chip-Seq_TH2_Human	1.01987983
79	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.01879378
80	FOXA1_25552417_ChIP-Seq_VCAP_Human	1.01733270
81	ELF5_23300383_ChIP-Seq_T47D_Human	1.01482850
82	SMRT_27268052_Chip-Seq_Bcells_Human	0.99668870
83	HIF1A_21447827_ChIP-Seq_MCF-7_Human	0.98792400
84	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.98675023
85	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.97879177
86	TCF4_18268006_ChIP-ChIP_LS174T_Human	0.97349585
87	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	0.96743096
88	VDR_23849224_ChIP-Seq_CD4+_Human	0.96495224
89	TP63_23658742_ChIP-Seq_EP156T_Human	0.95648055
90	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	0.94655008
91	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	0.94655008
92	GABP_17652178_ChIP-ChIP_JURKAT_Human	0.94641984
93	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.93965154
94	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	0.93852854
95	KDM5A_27292631_Chip-Seq_BREAST_Human	0.93659327
96	TBL1_22424771_ChIP-Seq_293T_Human	0.93424889
97	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.92172169
98	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.91904542
99	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	0.91347542
100	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	0.91082193

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006054_spinal_hemorrhage	6.24300664
2	MP0009697_abnormal_copulation	3.80814319
3	MP0001984_abnormal_olfaction	3.45538066
4	MP0008872_abnormal_physiological_respon	3.24904487
5	MP0003806_abnormal_nucleotide_metabolis	3.22941535
6	MP0002822_catalepsy	2.86872574
7	MP0008057_abnormal_DNA_replication	2.75927670
8	MP0010352_gastrointestinal_tract_polyps	2.70089914
9	MP0002909_abnormal_adrenal_gland	2.61814872
10	MP0009780_abnormal_chondrocyte_physiolo	2.60629864
11	MP0003011_delayed_dark_adaptation	2.37963339
12	MP0005379_endocrine/exocrine_gland_phen	2.35982516
13	MP0008877_abnormal_DNA_methylation	2.34453459
14	MP0004043_abnormal_pH_regulation	2.22034427
15	MP0003787_abnormal_imprinting	2.20993434
16	MP0002796_impaired_skin_barrier	2.15498303
17	MP0000372_irregular_coat_pigmentation	2.12492970
18	MP0003045_fibrosis	1.98093281
19	MP0003763_abnormal_thymus_physiology	1.94047636
20	MP0005253_abnormal_eye_physiology	1.81041972
21	MP0002139_abnormal_hepatobiliary_system	1.77082774
22	MP0000383_abnormal_hair_follicle	1.74315303
23	MP0003950_abnormal_plasma_membrane	1.67930742
24	MP0002166_altered_tumor_susceptibility	1.65612834
25	MP0010678_abnormal_skin_adnexa	1.63971472
26	MP0005410_abnormal_fertilization	1.57287309
27	MP0002733_abnormal_thermal_nociception	1.55918623
28	MP0005310_abnormal_salivary_gland	1.55854957
29	MP0002009_preneoplasia	1.53634479
30	MP0001348_abnormal_lacrimal_gland	1.52330930
31	MP0003718_maternal_effect	1.51984395
32	MP0002277_abnormal_respiratory_mucosa	1.46656663
33	MP0008995_early_reproductive_senescence	1.46150604
34	MP0005551_abnormal_eye_electrophysiolog	1.41786233
35	MP0003195_calcinosis	1.40292913
36	MP0003221_abnormal_cardiomyocyte_apopto	1.40133862
37	MP0005187_abnormal_penis_morphology	1.37586999
38	MP0001501_abnormal_sleep_pattern	1.30297242
39	MP0005395_other_phenotype	1.28698188
40	MP0002168_other_aberrant_phenotype	1.27759791
41	MP0001666_abnormal_nutrient_absorption	1.26876396
42	MP0002006_tumorigenesis	1.25893231
43	MP0010329_abnormal_lipoprotein_level	1.21123937
44	MP0001970_abnormal_pain_threshold	1.19001844
45	MP0002693_abnormal_pancreas_physiology	1.18423493
46	MP0001502_abnormal_circadian_rhythm	1.17948421
47	MP0000569_abnormal_digit_pigmentation	1.17145337
48	MP0005670_abnormal_white_adipose	1.12575219
49	MP0001765_abnormal_ion_homeostasis	1.12262379
50	MP0005220_abnormal_exocrine_pancreas	1.11845177
51	MP0005085_abnormal_gallbladder_physiolo	1.08941361
52	MP0004510_myositis	1.08562910
53	MP0005645_abnormal_hypothalamus_physiol	1.07733213
54	MP0004484_altered_response_of	1.04119993
55	MP0003868_abnormal_feces_composition	0.99011163
56	MP0000230_abnormal_systemic_arterial	0.98958939
57	MP0006072_abnormal_retinal_apoptosis	0.98458435
58	MP0005332_abnormal_amino_acid	0.97025453
59	MP0001944_abnormal_pancreas_morphology	0.96692072
60	MP0001915_intracranial_hemorrhage	0.96476388
61	MP0009046_muscle_twitch	0.92870754
62	MP0000427_abnormal_hair_cycle	0.91308971
63	MP0001851_eye_inflammation	0.90473403
64	MP0003633_abnormal_nervous_system	0.89338759
65	MP0008961_abnormal_basal_metabolism	0.87948611
66	MP0003786_premature_aging	0.87699994
67	MP0005636_abnormal_mineral_homeostasis	0.86780098
68	MP0001188_hyperpigmentation	0.84882247
69	MP0008875_abnormal_xenobiotic_pharmacok	0.82385254
70	MP0001986_abnormal_taste_sensitivity	0.81653800
71	MP0004270_analgesia	0.81630602
72	MP0001756_abnormal_urination	0.78728268
73	MP0002078_abnormal_glucose_homeostasis	0.76282936
74	MP0001873_stomach_inflammation	0.72945358
75	MP0009745_abnormal_behavioral_response	0.68551962
76	MP0001800_abnormal_humoral_immune	0.68492041
77	MP0004145_abnormal_muscle_electrophysio	0.68209035
78	MP0004947_skin_inflammation	0.68161437
79	MP0002396_abnormal_hematopoietic_system	0.67327003
80	MP0004782_abnormal_surfactant_physiolog	0.66284404
81	MP0008789_abnormal_olfactory_epithelium	0.64974156
82	MP0003121_genomic_imprinting	0.63926788
83	MP0010234_abnormal_vibrissa_follicle	0.63561175
84	MP0000703_abnormal_thymus_morphology	0.62967078
85	MP0005646_abnormal_pituitary_gland	0.62941939
86	MP0003693_abnormal_embryo_hatching	0.61854955
87	MP0001784_abnormal_fluid_regulation	0.61735198
88	MP0004147_increased_porphyrin_level	0.61587268
89	MP0010386_abnormal_urinary_bladder	0.60284247
90	MP0005666_abnormal_adipose_tissue	0.59288317
91	MP0001216_abnormal_epidermal_layer	0.59277542
92	MP0002229_neurodegeneration	0.58867665
93	MP0000647_abnormal_sebaceous_gland	0.58428012
94	MP0005391_vision/eye_phenotype	0.56726956
95	MP0010771_integument_phenotype	0.56317386
96	MP0002118_abnormal_lipid_homeostasis	0.55946181
97	MP0005266_abnormal_metabolism	0.55455940
98	MP0009643_abnormal_urine_homeostasis	0.55379768
99	MP0009333_abnormal_splenocyte_physiolog	0.55300667
100	MP0005174_abnormal_tail_pigmentation	0.54320720

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Gaze-evoked nystagmus (HP:0000640)	4.47299545
2	Abnormal hair whorl (HP:0010721)	4.42095759
3	Progressive cerebellar ataxia (HP:0002073)	4.27155957
4	Cone-rod dystrophy (HP:0000548)	3.93126558
5	Chronic bronchitis (HP:0004469)	3.63227319
6	Medial flaring of the eyebrow (HP:0010747)	3.39085117
7	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.36562238
8	Genetic anticipation (HP:0003743)	3.34682243
9	Reduced antithrombin III activity (HP:0001976)	3.28992308
10	Bronchitis (HP:0012387)	3.12784034
11	Volvulus (HP:0002580)	3.09890155
12	Abnormal ciliary motility (HP:0012262)	3.08617114
13	Renal cortical cysts (HP:0000803)	3.08134500
14	Thoracolumbar scoliosis (HP:0002944)	3.03623760
15	Proximal tubulopathy (HP:0000114)	3.01218432
16	Congenital primary aphakia (HP:0007707)	2.98044261
17	Abnormal respiratory motile cilium physiology (HP:0012261)	2.96107347
18	IgA deficiency (HP:0002720)	2.92118944
19	Gait imbalance (HP:0002141)	2.92110341
20	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.87092292
21	Absent/shortened dynein arms (HP:0200106)	2.87092292
22	Type I transferrin isoform profile (HP:0003642)	2.86942566
23	Macular degeneration (HP:0000608)	2.79262950
24	Chronic sinusitis (HP:0011109)	2.79226014
25	Poor coordination (HP:0002370)	2.78467681
26	Recurrent bronchitis (HP:0002837)	2.78104275
27	Villous atrophy (HP:0011473)	2.72867746
28	Abnormality of small intestinal villus morphology (HP:0011472)	2.72867746
29	Decreased central vision (HP:0007663)	2.71677771
30	Rhinitis (HP:0012384)	2.68516127
31	Abnormal rod and cone electroretinograms (HP:0008323)	2.68308290
32	Abnormality of the fingertips (HP:0001211)	2.67446243
33	Bronchiectasis (HP:0002110)	2.66723340
34	Genital tract atresia (HP:0001827)	2.61736639
35	Vaginal atresia (HP:0000148)	2.54966815
36	Abnormal glycosylation (HP:0012345)	2.49642685
37	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.49642685
38	Abnormal protein N-linked glycosylation (HP:0012347)	2.49642685
39	Abnormal protein glycosylation (HP:0012346)	2.49642685
40	Tubulointerstitial nephritis (HP:0001970)	2.48249330
41	Autoimmune hemolytic anemia (HP:0001890)	2.46838277
42	Abnormal respiratory motile cilium morphology (HP:0005938)	2.46488785
43	Abnormal respiratory epithelium morphology (HP:0012253)	2.46488785
44	Abnormality of methionine metabolism (HP:0010901)	2.43745240
45	Hyperkalemia (HP:0002153)	2.38577231
46	Nephrogenic diabetes insipidus (HP:0009806)	2.36803525
47	Abnormality of the renal cortex (HP:0011035)	2.34822849
48	Abnormality of the nasal septum (HP:0000419)	2.30431949
49	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.26131770
50	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.26131770
51	Chronic diarrhea (HP:0002028)	2.22843599
52	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.16447892
53	Congenital stationary night blindness (HP:0007642)	2.14825027
54	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.11099444
55	Large for gestational age (HP:0001520)	2.10856721
56	Abnormality of macular pigmentation (HP:0008002)	2.10778319
57	Bony spicule pigmentary retinopathy (HP:0007737)	2.10126918
58	Fair hair (HP:0002286)	2.06845543
59	Small hand (HP:0200055)	2.06459727
60	Attenuation of retinal blood vessels (HP:0007843)	2.05259367
61	Truncal obesity (HP:0001956)	2.04196038
62	IgM deficiency (HP:0002850)	2.02881782
63	Thyroid carcinoma (HP:0002890)	2.02475463
64	Septate vagina (HP:0001153)	2.02178671
65	Sensory axonal neuropathy (HP:0003390)	2.01060640
66	Recurrent sinusitis (HP:0011108)	2.00858051
67	Self-mutilation (HP:0000742)	2.00370171
68	Abnormality of the intrinsic pathway (HP:0010989)	2.00308540
69	Birth length less than 3rd percentile (HP:0003561)	1.99350101
70	Autoamputation (HP:0001218)	1.99045203
71	Impaired vibratory sensation (HP:0002495)	1.98745314
72	Hypoproteinemia (HP:0003075)	1.96594078
73	Dysmetric saccades (HP:0000641)	1.95660944
74	Macroorchidism (HP:0000053)	1.93311461
75	Severe visual impairment (HP:0001141)	1.90552084
76	Methylmalonic aciduria (HP:0012120)	1.89208533
77	Decreased circulating renin level (HP:0003351)	1.88197071
78	Abolished electroretinogram (ERG) (HP:0000550)	1.86947484
79	Hypoalbuminemia (HP:0003073)	1.86048020
80	Abnormal albumin level (HP:0012116)	1.86048020
81	Abnormality of the astrocytes (HP:0100707)	1.85541770
82	Astrocytoma (HP:0009592)	1.85541770
83	Decreased testicular size (HP:0008734)	1.84320375
84	Postural tremor (HP:0002174)	1.84006264
85	Short foot (HP:0001773)	1.83755393
86	Renal Fanconi syndrome (HP:0001994)	1.83568821
87	Oligodactyly (hands) (HP:0001180)	1.80827352
88	Abnormality of alanine metabolism (HP:0010916)	1.79336837
89	Hyperalaninemia (HP:0003348)	1.79336837
90	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.79336837
91	Congenital hepatic fibrosis (HP:0002612)	1.78888980
92	Abnormality of midbrain morphology (HP:0002418)	1.77387892
93	Molar tooth sign on MRI (HP:0002419)	1.77387892
94	Curly hair (HP:0002212)	1.76539844
95	Lip pit (HP:0100267)	1.71614797
96	Papillary thyroid carcinoma (HP:0002895)	1.71374312
97	Hypothermia (HP:0002045)	1.71138037
98	Pendular nystagmus (HP:0012043)	1.70631687
99	Methylmalonic acidemia (HP:0002912)	1.68814378
100	Widely spaced teeth (HP:0000687)	1.68239613

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.87893922
2	WNK3	3.83937927
3	MAP3K13	2.67613924
4	BRSK2	2.47082334
5	MKNK2	2.36977220
6	BMPR1B	2.31293920
7	TAOK3	2.23055040
8	INSRR	2.14332663
9	SGK2	2.11614500
10	MAP3K4	2.09836396
11	NUAK1	1.91142126
12	AKT3	1.91110499
13	EIF2AK3	1.77918560
14	TRPM7	1.73983986
15	CHUK	1.69515942
16	SGK494	1.65356794
17	SGK223	1.65356794
18	CDK12	1.59029367
19	STK38L	1.55819467
20	WNK4	1.54276925
21	MAP2K7	1.46664044
22	PAK3	1.43684677
23	PDK2	1.37701514
24	MAP4K2	1.34320460
25	NTRK3	1.33628982
26	PRKAA2	1.31930942
27	FER	1.29272066
28	TAF1	1.28865133
29	PLK2	1.28726989
30	MST4	1.27517712
31	MAP3K6	1.17160489
32	MAP3K7	1.11708006
33	PIK3CA	1.11342962
34	ITK	1.08224021
35	TEC	1.07167963
36	WEE1	1.06508069
37	CSNK1A1L	1.06425310
38	IKBKB	1.04296215
39	PDGFRB	1.04228743
40	STK39	1.03722477
41	SGK3	1.02244714
42	PTK2B	1.00942244
43	MAP3K14	0.98551821
44	CAMK4	0.95002485
45	ERBB2	0.93686071
46	MAP2K6	0.91095209
47	HIPK2	0.90652562
48	GRK1	0.89911153
49	PIK3CG	0.87423558
50	TGFBR2	0.84343741
51	ZAK	0.83195453
52	JAK1	0.82797626
53	NLK	0.82365564
54	FGFR3	0.81871434
55	WNK1	0.80817915
56	MAP3K2	0.80255628
57	EPHA3	0.79450464
58	FGFR1	0.78811018
59	STK3	0.78339362
60	IRAK1	0.76214961
61	CSNK1G1	0.74262052
62	BCR	0.73261299
63	IKBKE	0.73160487
64	TXK	0.71072108
65	BUB1	0.69214271
66	NEK6	0.68483501
67	PLK4	0.67950546
68	RPS6KA5	0.67132294
69	VRK1	0.63736324
70	SGK1	0.63567056
71	ADRBK2	0.63179541
72	RPS6KB2	0.62179810
73	PRKCE	0.61985716
74	YES1	0.58930349
75	RPS6KA4	0.58101271
76	MST1R	0.57645957
77	LATS1	0.57006823
78	MKNK1	0.55693796
79	DAPK2	0.53844748
80	PRKCI	0.51149449
81	TNK2	0.49665973
82	TLK1	0.49551892
83	CSNK1G3	0.48721811
84	EIF2AK2	0.48662666
85	ATM	0.47902587
86	ADRBK1	0.47806265
87	CDK6	0.47743618
88	BMPR2	0.43025720
89	CAMK2D	0.42765753
90	FGFR2	0.41881876
91	EGFR	0.41173354
92	CSNK1D	0.41124822
93	MAPK1	0.38217293
94	SYK	0.37437369
95	CSK	0.37342051
96	MELK	0.37088094
97	MATK	0.36397455
98	ACVR1B	0.34904229
99	PRKCQ	0.34535550
100	BTK	0.34010052

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Vitamin B6 metabolism_Homo sapiens_hsa00750	4.75688751
2	Circadian rhythm_Homo sapiens_hsa04710	3.19361002
3	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.26198655
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.21458889
5	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.20677571
6	Type I diabetes mellitus_Homo sapiens_hsa04940	2.08823007
7	Ether lipid metabolism_Homo sapiens_hsa00565	2.07672699
8	Protein export_Homo sapiens_hsa03060	1.96207283
9	ABC transporters_Homo sapiens_hsa02010	1.90420165
10	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.86955010
11	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.85760266
12	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.79157457
13	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.74868077
14	RNA degradation_Homo sapiens_hsa03018	1.72028900
15	Adherens junction_Homo sapiens_hsa04520	1.60422099
16	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.57872210
17	Caffeine metabolism_Homo sapiens_hsa00232	1.48385523
18	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.42456538
19	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.38801404
20	RNA polymerase_Homo sapiens_hsa03020	1.38041786
21	Lysine degradation_Homo sapiens_hsa00310	1.32340426
22	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.31593201
23	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.25133042
24	Allograft rejection_Homo sapiens_hsa05330	1.21399564
25	Oocyte meiosis_Homo sapiens_hsa04114	1.18535693
26	Basal transcription factors_Homo sapiens_hsa03022	1.17173753
27	Selenocompound metabolism_Homo sapiens_hsa00450	1.14917961
28	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.14258722
29	Purine metabolism_Homo sapiens_hsa00230	1.12594432
30	Alcoholism_Homo sapiens_hsa05034	1.11245467
31	Glucagon signaling pathway_Homo sapiens_hsa04922	1.10095191
32	Insulin secretion_Homo sapiens_hsa04911	1.08832375
33	Insulin resistance_Homo sapiens_hsa04931	1.06531206
34	One carbon pool by folate_Homo sapiens_hsa00670	1.06220969
35	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.05741821
36	Propanoate metabolism_Homo sapiens_hsa00640	1.05572720
37	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	1.00788466
38	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.99770065
39	Mismatch repair_Homo sapiens_hsa03430	0.99754511
40	beta-Alanine metabolism_Homo sapiens_hsa00410	0.99484515
41	FoxO signaling pathway_Homo sapiens_hsa04068	0.97202254
42	Homologous recombination_Homo sapiens_hsa03440	0.96000475
43	Sphingolipid metabolism_Homo sapiens_hsa00600	0.89524888
44	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.89315225
45	Graft-versus-host disease_Homo sapiens_hsa05332	0.89284843
46	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.88521575
47	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.87184873
48	Phototransduction_Homo sapiens_hsa04744	0.85129845
49	Taste transduction_Homo sapiens_hsa04742	0.85082352
50	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.83377866
51	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.82527254
52	Sulfur metabolism_Homo sapiens_hsa00920	0.81590968
53	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.81071111
54	Regulation of autophagy_Homo sapiens_hsa04140	0.76254049
55	Long-term depression_Homo sapiens_hsa04730	0.75637282
56	Serotonergic synapse_Homo sapiens_hsa04726	0.73884818
57	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.73485213
58	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.72654451
59	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.71939883
60	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.71208519
61	Complement and coagulation cascades_Homo sapiens_hsa04610	0.71048995
62	Primary immunodeficiency_Homo sapiens_hsa05340	0.68708858
63	RNA transport_Homo sapiens_hsa03013	0.68235398
64	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.67686331
65	Nitrogen metabolism_Homo sapiens_hsa00910	0.65822949
66	Chemical carcinogenesis_Homo sapiens_hsa05204	0.65815451
67	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.65661350
68	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64276747
69	Collecting duct acid secretion_Homo sapiens_hsa04966	0.63056042
70	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.62962729
71	Retinol metabolism_Homo sapiens_hsa00830	0.62503886
72	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.60961206
73	Calcium signaling pathway_Homo sapiens_hsa04020	0.59495054
74	Pancreatic secretion_Homo sapiens_hsa04972	0.57209418
75	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.55425178
76	Pyrimidine metabolism_Homo sapiens_hsa00240	0.54308228
77	p53 signaling pathway_Homo sapiens_hsa04115	0.53214523
78	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.52943442
79	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.52892921
80	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.51661528
81	Renin secretion_Homo sapiens_hsa04924	0.50000224
82	Fatty acid metabolism_Homo sapiens_hsa01212	0.49636969
83	Huntingtons disease_Homo sapiens_hsa05016	0.49629994
84	Asthma_Homo sapiens_hsa05310	0.49605833
85	Platelet activation_Homo sapiens_hsa04611	0.48590607
86	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.47649854
87	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.47403942
88	Type II diabetes mellitus_Homo sapiens_hsa04930	0.46798375
89	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.45887755
90	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.45532827
91	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.44569001
92	Salivary secretion_Homo sapiens_hsa04970	0.44531362
93	Proteasome_Homo sapiens_hsa03050	0.43133522
94	Rheumatoid arthritis_Homo sapiens_hsa05323	0.42760235
95	Glutamatergic synapse_Homo sapiens_hsa04724	0.42753664
96	Viral carcinogenesis_Homo sapiens_hsa05203	0.42687101
97	Amphetamine addiction_Homo sapiens_hsa05031	0.42306987
98	Arginine biosynthesis_Homo sapiens_hsa00220	0.41738038
99	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.38965634
100	Fat digestion and absorption_Homo sapiens_hsa04975	0.38326316

MTHFD1P1

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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