ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	5.23559886
2	centriole replication (GO:0007099)	4.96934713
3	protein polyglutamylation (GO:0018095)	4.70640528
4	presynaptic membrane assembly (GO:0097105)	4.53642628
5	acrosome reaction (GO:0007340)	4.47968186
6	histone H2A acetylation (GO:0043968)	4.20072465
7	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.96223869
8	nonmotile primary cilium assembly (GO:0035058)	3.95653775
9	regulation of cilium movement (GO:0003352)	3.95592773
10	epithelial cilium movement (GO:0003351)	3.93487606
11	microtubule depolymerization (GO:0007019)	3.82959106
12	DNA double-strand break processing (GO:0000729)	3.79219064
13	presynaptic membrane organization (GO:0097090)	3.77078955
14	protein deneddylation (GO:0000338)	3.73336644
15	cilium organization (GO:0044782)	3.70880056
16	cilium assembly (GO:0042384)	3.70067896
17	cilium or flagellum-dependent cell motility (GO:0001539)	3.67875697
18	base-excision repair, AP site formation (GO:0006285)	3.61172751
19	centriole assembly (GO:0098534)	3.57016273
20	cilium movement (GO:0003341)	3.55365541
21	axoneme assembly (GO:0035082)	3.54633611
22	cullin deneddylation (GO:0010388)	3.53431038
23	intraciliary transport (GO:0042073)	3.52178882
24	pyrimidine nucleobase catabolic process (GO:0006208)	3.50478534
25	cell wall macromolecule catabolic process (GO:0016998)	3.36595902
26	C4-dicarboxylate transport (GO:0015740)	3.34211599
27	sperm motility (GO:0030317)	3.33216502
28	microtubule polymerization or depolymerization (GO:0031109)	3.31089420
29	positive regulation of mitochondrial fission (GO:0090141)	3.27941307
30	photoreceptor cell maintenance (GO:0045494)	3.23568699
31	replication fork processing (GO:0031297)	3.20288559
32	resolution of meiotic recombination intermediates (GO:0000712)	3.17009896
33	proline transport (GO:0015824)	3.16302047
34	brain morphogenesis (GO:0048854)	3.13748095
35	double-strand break repair via nonhomologous end joining (GO:0006303)	3.10818249
36	non-recombinational repair (GO:0000726)	3.10818249
37	protein complex biogenesis (GO:0070271)	3.09546146
38	retinal cone cell development (GO:0046549)	3.02575412
39	protein prenylation (GO:0018342)	3.01289185
40	prenylation (GO:0097354)	3.01289185
41	nucleobase catabolic process (GO:0046113)	2.98341951
42	cell wall macromolecule metabolic process (GO:0044036)	2.98256432
43	axonemal dynein complex assembly (GO:0070286)	2.97343360
44	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.94332360
45	protein K11-linked deubiquitination (GO:0035871)	2.93937159
46	righting reflex (GO:0060013)	2.92461132
47	fucose catabolic process (GO:0019317)	2.89221781
48	L-fucose metabolic process (GO:0042354)	2.89221781
49	L-fucose catabolic process (GO:0042355)	2.89221781
50	cilium morphogenesis (GO:0060271)	2.87304148
51	synapsis (GO:0007129)	2.85849994
52	platelet dense granule organization (GO:0060155)	2.84637947
53	inner ear receptor stereocilium organization (GO:0060122)	2.84012226
54	establishment of nucleus localization (GO:0040023)	2.82731791
55	cellular component assembly involved in morphogenesis (GO:0010927)	2.82158075
56	mitochondrial respiratory chain complex assembly (GO:0033108)	2.81987591
57	establishment of integrated proviral latency (GO:0075713)	2.81474571
58	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.78105567
59	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.78105567
60	NADH dehydrogenase complex assembly (GO:0010257)	2.78105567
61	regulation of collateral sprouting (GO:0048670)	2.77807780
62	male meiosis I (GO:0007141)	2.77562876
63	protein K11-linked ubiquitination (GO:0070979)	2.75361604
64	rRNA modification (GO:0000154)	2.69758477
65	peptidyl-histidine modification (GO:0018202)	2.69743496
66	neurotransmitter-gated ion channel clustering (GO:0072578)	2.67550153
67	postsynaptic membrane organization (GO:0001941)	2.62986665
68	histone exchange (GO:0043486)	2.62005821
69	calcium ion-dependent exocytosis (GO:0017156)	2.61564430
70	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.59481005
71	olfactory bulb development (GO:0021772)	2.59091471
72	rRNA methylation (GO:0031167)	2.58799011
73	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.58759076
74	transmission of nerve impulse (GO:0019226)	2.57390807
75	retinal ganglion cell axon guidance (GO:0031290)	2.57329539
76	behavioral response to nicotine (GO:0035095)	2.55276461
77	motile cilium assembly (GO:0044458)	2.53605839
78	cytochrome complex assembly (GO:0017004)	2.52627097
79	respiratory chain complex IV assembly (GO:0008535)	2.52392249
80	regulation of timing of cell differentiation (GO:0048505)	2.51789886
81	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.49787563
82	water-soluble vitamin biosynthetic process (GO:0042364)	2.48550744
83	reflex (GO:0060004)	2.48336378
84	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	2.46356501
85	regulation of DNA endoreduplication (GO:0032875)	2.44238524
86	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.42237445
87	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.42237445
88	vocalization behavior (GO:0071625)	2.41476006
89	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.41197418
90	ventricular system development (GO:0021591)	2.39499466
91	establishment of viral latency (GO:0019043)	2.38597166
92	neural tube formation (GO:0001841)	2.37724881
93	meiosis I (GO:0007127)	2.37436414
94	regulation of development, heterochronic (GO:0040034)	2.37151255
95	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.36575643
96	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.36418221
97	regulation of mitotic spindle checkpoint (GO:1903504)	2.36418221
98	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.35513014
99	negative regulation of neurological system process (GO:0031645)	2.35068206
100	proteasome assembly (GO:0043248)	2.31996640

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.87915828
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.15793162
3	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.02181010
4	TAF15_26573619_Chip-Seq_HEK293_Human	2.80532848
5	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.78310982
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.60418034
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.60082594
8	VDR_22108803_ChIP-Seq_LS180_Human	2.59230776
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.58349906
10	GBX2_23144817_ChIP-Seq_PC3_Human	2.47613874
11	FUS_26573619_Chip-Seq_HEK293_Human	2.43081294
12	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.40552398
13	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.29033406
14	P300_19829295_ChIP-Seq_ESCs_Human	2.28010490
15	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.27884238
16	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.27638490
17	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.23251634
18	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.19990156
19	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.17943582
20	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.09831321
21	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.02881158
22	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.01956185
23	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.00483031
24	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.97550126
25	EWS_26573619_Chip-Seq_HEK293_Human	1.96857468
26	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.85566291
27	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.66434825
28	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.66220437
29	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.64936584
30	SMAD4_21799915_ChIP-Seq_A2780_Human	1.64899888
31	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.64217121
32	ER_23166858_ChIP-Seq_MCF-7_Human	1.62531952
33	BCAT_22108803_ChIP-Seq_LS180_Human	1.62326658
34	EZH2_22144423_ChIP-Seq_EOC_Human	1.60212513
35	ELK1_19687146_ChIP-ChIP_HELA_Human	1.58916005
36	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.56066504
37	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.50690393
38	TP53_22573176_ChIP-Seq_HFKS_Human	1.48508133
39	MYC_18940864_ChIP-ChIP_HL60_Human	1.47829339
40	CBP_20019798_ChIP-Seq_JUKART_Human	1.46263558
41	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.46263558
42	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.45812300
43	STAT3_23295773_ChIP-Seq_U87_Human	1.44781596
44	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.44660201
45	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.44660201
46	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.42911217
47	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.42610263
48	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.42226844
49	AR_25329375_ChIP-Seq_VCAP_Human	1.41998147
50	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.40699736
51	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.38232299
52	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.36934745
53	TCF4_23295773_ChIP-Seq_U87_Human	1.36082862
54	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.35538332
55	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.33793560
56	IRF1_19129219_ChIP-ChIP_H3396_Human	1.33254067
57	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.31949361
58	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.30379325
59	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.29855490
60	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.28932521
61	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.28250813
62	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.27977065
63	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.27127848
64	RUNX2_22187159_ChIP-Seq_PCA_Human	1.22601238
65	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.21933786
66	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.19943561
67	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.16193997
68	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.15777284
69	VDR_23849224_ChIP-Seq_CD4+_Human	1.15641325
70	AR_21572438_ChIP-Seq_LNCaP_Human	1.15320303
71	TCF4_22108803_ChIP-Seq_LS180_Human	1.14627783
72	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.13851487
73	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.13585583
74	JUN_21703547_ChIP-Seq_K562_Human	1.12416500
75	REST_21632747_ChIP-Seq_MESCs_Mouse	1.11462069
76	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.10067054
77	RNF2_27304074_Chip-Seq_NSC_Mouse	1.10037680
78	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.08007288
79	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.07754508
80	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.07401888
81	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.04130832
82	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.03987341
83	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.02756404
84	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.02254326
85	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.02254326
86	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.02237545
87	NANOG_19829295_ChIP-Seq_ESCs_Human	1.01114130
88	SOX2_19829295_ChIP-Seq_ESCs_Human	1.01114130
89	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.00397965
90	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.00127742
91	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.00062828
92	P53_22387025_ChIP-Seq_ESCs_Mouse	0.99881033
93	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.99472712
94	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.98628657
95	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.97369854
96	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.96594367
97	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.95739966
98	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.94681504
99	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.94559010
100	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	0.94085786

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	4.31314291
2	MP0003880_abnormal_central_pattern	3.66831739
3	MP0001529_abnormal_vocalization	3.45270578
4	MP0001984_abnormal_olfaction	2.66335707
5	MP0008877_abnormal_DNA_methylation	2.51504568
6	MP0006072_abnormal_retinal_apoptosis	2.46756877
7	MP0008058_abnormal_DNA_repair	2.32744308
8	MP0003787_abnormal_imprinting	2.32476858
9	MP0005551_abnormal_eye_electrophysiolog	2.30008339
10	MP0005377_hearing/vestibular/ear_phenot	2.21103130
11	MP0003878_abnormal_ear_physiology	2.21103130
12	MP0001486_abnormal_startle_reflex	2.18880589
13	MP0005410_abnormal_fertilization	2.16707199
14	MP0005253_abnormal_eye_physiology	2.00347188
15	MP0000372_irregular_coat_pigmentation	1.99271491
16	MP0006292_abnormal_olfactory_placode	1.99100698
17	MP0002736_abnormal_nociception_after	1.97917037
18	MP0000778_abnormal_nervous_system	1.95476408
19	MP0009046_muscle_twitch	1.86664057
20	MP0003121_genomic_imprinting	1.86134718
21	MP0008789_abnormal_olfactory_epithelium	1.84117124
22	MP0002653_abnormal_ependyma_morphology	1.82899062
23	MP0001968_abnormal_touch/_nociception	1.75967304
24	MP0001293_anophthalmia	1.70650038
25	MP0010094_abnormal_chromosome_stability	1.70075622
26	MP0003698_abnormal_male_reproductive	1.63227970
27	MP0001485_abnormal_pinna_reflex	1.62917648
28	MP0001929_abnormal_gametogenesis	1.62201773
29	MP0005499_abnormal_olfactory_system	1.56202995
30	MP0005394_taste/olfaction_phenotype	1.56202995
31	MP0003718_maternal_effect	1.55086157
32	MP0006276_abnormal_autonomic_nervous	1.45911214
33	MP0004147_increased_porphyrin_level	1.40369817
34	MP0002557_abnormal_social/conspecific_i	1.37753170
35	MP0009745_abnormal_behavioral_response	1.37500727
36	MP0000631_abnormal_neuroendocrine_gland	1.37361427
37	MP0001986_abnormal_taste_sensitivity	1.29140153
38	MP0002210_abnormal_sex_determination	1.26581448
39	MP0002138_abnormal_hepatobiliary_system	1.26506458
40	MP0004742_abnormal_vestibular_system	1.26453678
41	MP0005670_abnormal_white_adipose	1.25088174
42	MP0002638_abnormal_pupillary_reflex	1.24175040
43	MP0002752_abnormal_somatic_nervous	1.23477470
44	MP0002572_abnormal_emotion/affect_behav	1.23385379
45	MP0006035_abnormal_mitochondrial_morpho	1.22222288
46	MP0005646_abnormal_pituitary_gland	1.21680396
47	MP0004215_abnormal_myocardial_fiber	1.18817142
48	MP0004270_analgesia	1.15794438
49	MP0002734_abnormal_mechanical_nocicepti	1.14695348
50	MP0002272_abnormal_nervous_system	1.14012868
51	MP0005623_abnormal_meninges_morphology	1.12731897
52	MP0005386_behavior/neurological_phenoty	1.12364927
53	MP0004924_abnormal_behavior	1.12364927
54	MP0000026_abnormal_inner_ear	1.12153524
55	MP0000427_abnormal_hair_cycle	1.10411542
56	MP0005391_vision/eye_phenotype	1.10225170
57	MP0003693_abnormal_embryo_hatching	1.08222315
58	MP0000653_abnormal_sex_gland	1.07823088
59	MP0002229_neurodegeneration	1.07814550
60	MP0002184_abnormal_innervation	1.07173102
61	MP0000955_abnormal_spinal_cord	1.06338820
62	MP0003635_abnormal_synaptic_transmissio	1.05915816
63	MP0002067_abnormal_sensory_capabilities	1.05723784
64	MP0001145_abnormal_male_reproductive	1.03169336
65	MP0003137_abnormal_impulse_conducting	1.01454470
66	MP0005195_abnormal_posterior_eye	1.01043030
67	MP0002064_seizures	1.01012774
68	MP0001963_abnormal_hearing_physiology	1.00841025
69	MP0004142_abnormal_muscle_tone	1.00599666
70	MP0002882_abnormal_neuron_morphology	1.00236127
71	MP0002837_dystrophic_cardiac_calcinosis	0.99454633
72	MP0000383_abnormal_hair_follicle	0.97453583
73	MP0001177_atelectasis	0.97124743
74	MP0008875_abnormal_xenobiotic_pharmacok	0.95607350
75	MP0002233_abnormal_nose_morphology	0.93874900
76	MP0002161_abnormal_fertility/fecundity	0.92252340
77	MP0001970_abnormal_pain_threshold	0.91815724
78	MP0002733_abnormal_thermal_nociception	0.90479523
79	MP0003567_abnormal_fetal_cardiomyocyte	0.90391453
80	MP0005367_renal/urinary_system_phenotyp	0.89868716
81	MP0000516_abnormal_urinary_system	0.89868716
82	MP0004133_heterotaxia	0.88991401
83	MP0000049_abnormal_middle_ear	0.88352996
84	MP0002282_abnormal_trachea_morphology	0.88258808
85	MP0002063_abnormal_learning/memory/cond	0.87230626
86	MP0002152_abnormal_brain_morphology	0.86802783
87	MP0003890_abnormal_embryonic-extraembry	0.86719858
88	MP0001501_abnormal_sleep_pattern	0.86236531
89	MP0003786_premature_aging	0.85126061
90	MP0003861_abnormal_nervous_system	0.84892610
91	MP0002928_abnormal_bile_duct	0.84212380
92	MP0002751_abnormal_autonomic_nervous	0.82366901
93	MP0003011_delayed_dark_adaptation	0.82329921
94	MP0000569_abnormal_digit_pigmentation	0.78993938
95	MP0003937_abnormal_limbs/digits/tail_de	0.78865528
96	MP0009780_abnormal_chondrocyte_physiolo	0.78797014
97	MP0002938_white_spotting	0.78162574
98	MP0010386_abnormal_urinary_bladder	0.77810388
99	MP0001188_hyperpigmentation	0.76427239
100	MP0001905_abnormal_dopamine_level	0.75322397

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Molar tooth sign on MRI (HP:0002419)	4.34069963
2	Abnormality of midbrain morphology (HP:0002418)	4.34069963
3	Nephronophthisis (HP:0000090)	4.18917571
4	Pancreatic fibrosis (HP:0100732)	3.89718913
5	Pancreatic cysts (HP:0001737)	3.85924705
6	True hermaphroditism (HP:0010459)	3.68017597
7	Chronic hepatic failure (HP:0100626)	3.51405646
8	Abnormality of the renal medulla (HP:0100957)	3.40526435
9	Dyschromatopsia (HP:0007641)	3.29182341
10	Medial flaring of the eyebrow (HP:0010747)	3.25481905
11	Bile duct proliferation (HP:0001408)	3.09285484
12	Abnormal biliary tract physiology (HP:0012439)	3.09285484
13	Hyperventilation (HP:0002883)	3.08913441
14	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.03253833
15	Volvulus (HP:0002580)	2.96303697
16	Congenital primary aphakia (HP:0007707)	2.92584997
17	Gait imbalance (HP:0002141)	2.91468703
18	3-Methylglutaconic aciduria (HP:0003535)	2.90271198
19	Occipital encephalocele (HP:0002085)	2.85583809
20	Abnormality of macular pigmentation (HP:0008002)	2.78274491
21	Colon cancer (HP:0003003)	2.73850657
22	Nephrogenic diabetes insipidus (HP:0009806)	2.70105726
23	Type II lissencephaly (HP:0007260)	2.69025685
24	Anencephaly (HP:0002323)	2.66125524
25	Cystic liver disease (HP:0006706)	2.65826053
26	Vaginal atresia (HP:0000148)	2.64670842
27	Abnormal respiratory motile cilium physiology (HP:0012261)	2.63298498
28	Genital tract atresia (HP:0001827)	2.59994197
29	Tubular atrophy (HP:0000092)	2.54649976
30	Attenuation of retinal blood vessels (HP:0007843)	2.51744873
31	Abnormal ciliary motility (HP:0012262)	2.50079207
32	Sclerocornea (HP:0000647)	2.50021668
33	Intestinal atresia (HP:0011100)	2.49022312
34	Abnormality of the renal cortex (HP:0011035)	2.46604647
35	Retinal dysplasia (HP:0007973)	2.43806801
36	Congenital hepatic fibrosis (HP:0002612)	2.41755888
37	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.40767992
38	Hypothermia (HP:0002045)	2.38151911
39	Ependymoma (HP:0002888)	2.35305705
40	Postaxial foot polydactyly (HP:0001830)	2.34659591
41	Rhinitis (HP:0012384)	2.33658369
42	Glioma (HP:0009733)	2.29666874
43	Astrocytoma (HP:0009592)	2.29318489
44	Abnormality of the astrocytes (HP:0100707)	2.29318489
45	Abnormal respiratory epithelium morphology (HP:0012253)	2.27606659
46	Abnormal respiratory motile cilium morphology (HP:0005938)	2.27606659
47	Postaxial hand polydactyly (HP:0001162)	2.25832542
48	Progressive cerebellar ataxia (HP:0002073)	2.19793853
49	Abolished electroretinogram (ERG) (HP:0000550)	2.15604653
50	Tubulointerstitial nephritis (HP:0001970)	2.11174412
51	Tubulointerstitial abnormality (HP:0001969)	2.10850099
52	Absent speech (HP:0001344)	2.10731021
53	Drooling (HP:0002307)	2.09229217
54	Preaxial hand polydactyly (HP:0001177)	2.08177501
55	Hepatocellular necrosis (HP:0001404)	2.03996071
56	Narrow forehead (HP:0000341)	2.02307799
57	Renal hypoplasia (HP:0000089)	2.02193947
58	Hyperglycinuria (HP:0003108)	2.01442675
59	Abnormal rod and cone electroretinograms (HP:0008323)	2.01318070
60	Acute necrotizing encephalopathy (HP:0006965)	1.98461760
61	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.95381378
62	Bifid tongue (HP:0010297)	1.95289336
63	Anophthalmia (HP:0000528)	1.94710894
64	Cerebral hypomyelination (HP:0006808)	1.92756466
65	Poor coordination (HP:0002370)	1.91351239
66	Male pseudohermaphroditism (HP:0000037)	1.90447755
67	Abnormal mitochondria in muscle tissue (HP:0008316)	1.89965598
68	Progressive macrocephaly (HP:0004481)	1.88239330
69	Tubulointerstitial fibrosis (HP:0005576)	1.86967135
70	Increased serum pyruvate (HP:0003542)	1.86187115
71	Excessive salivation (HP:0003781)	1.85786151
72	Increased CSF lactate (HP:0002490)	1.85547725
73	Thyroiditis (HP:0100646)	1.84615939
74	Mitochondrial inheritance (HP:0001427)	1.83681872
75	Lissencephaly (HP:0001339)	1.83564174
76	Congenital stationary night blindness (HP:0007642)	1.82601906
77	Acute encephalopathy (HP:0006846)	1.82080878
78	Polydipsia (HP:0001959)	1.82031425
79	Abnormal drinking behavior (HP:0030082)	1.82031425
80	Specific learning disability (HP:0001328)	1.81662443
81	Oculomotor apraxia (HP:0000657)	1.81156363
82	Absent/shortened dynein arms (HP:0200106)	1.81090642
83	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.81090642
84	Tented upper lip vermilion (HP:0010804)	1.79791228
85	Cerebellar dysplasia (HP:0007033)	1.79351784
86	Hepatic necrosis (HP:0002605)	1.78703327
87	Optic nerve hypoplasia (HP:0000609)	1.77316385
88	Stomach cancer (HP:0012126)	1.77307613
89	Dandy-Walker malformation (HP:0001305)	1.74335224
90	Abnormality of glycolysis (HP:0004366)	1.74000685
91	Multicystic kidney dysplasia (HP:0000003)	1.73921276
92	Cupped ear (HP:0000378)	1.73220632
93	Optic disc pallor (HP:0000543)	1.72130957
94	Abnormality of the labia minora (HP:0012880)	1.71484402
95	Decreased testicular size (HP:0008734)	1.70335150
96	Astigmatism (HP:0000483)	1.70303417
97	Retinitis pigmentosa (HP:0000510)	1.67225879
98	Aplasia/Hypoplasia of the brainstem (HP:0007362)	1.66737938
99	Hypoplasia of the brainstem (HP:0002365)	1.66737938
100	Abnormality of glycine metabolism (HP:0010895)	1.66593319

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	3.79776952
2	TRIM28	3.57483702
3	MAP4K2	3.44315378
4	TNIK	3.02314109
5	CASK	2.66539994
6	BMPR1B	2.62578595
7	PLK4	2.60412263
8	BCR	2.24053153
9	MAPK13	2.22829427
10	BCKDK	2.15431233
11	EIF2AK3	2.13640039
12	ZAK	1.91874321
13	WNK3	1.80809571
14	MARK1	1.79278230
15	PLK2	1.77560727
16	ADRBK2	1.70107691
17	CSNK1G1	1.68684057
18	TAOK3	1.60220636
19	VRK2	1.58164480
20	MAP3K4	1.54413871
21	EPHA4	1.53070269
22	SRPK1	1.47363539
23	PTK2B	1.42207072
24	GRK1	1.39458389
25	CSNK1G3	1.30575787
26	INSRR	1.27612519
27	VRK1	1.25682831
28	ERBB3	1.24664077
29	EPHA3	1.24441585
30	CSNK1G2	1.22363673
31	PAK3	1.16153648
32	TXK	1.14162717
33	PLK3	1.11250312
34	WEE1	1.05959231
35	MKNK1	1.04780793
36	DYRK2	1.03503635
37	CSNK1A1L	1.00672716
38	NTRK3	0.97843870
39	NUAK1	0.97608226
40	CDC7	0.95386207
41	MAP2K7	0.94893910
42	PLK1	0.94263425
43	MKNK2	0.92668039
44	NLK	0.86866475
45	GRK7	0.84141269
46	MST4	0.83412018
47	ATR	0.83246878
48	PDK2	0.83242308
49	MINK1	0.83229726
50	FER	0.83134105
51	MET	0.83100784
52	PRKD3	0.80358974
53	NME1	0.79823783
54	IRAK1	0.78957939
55	ATM	0.76135152
56	NEK6	0.75330053
57	OXSR1	0.73371908
58	PRKCE	0.72395668
59	EIF2AK2	0.71508344
60	STK39	0.68022888
61	BUB1	0.67951303
62	IRAK2	0.67812268
63	TSSK6	0.66938137
64	TTK	0.66436633
65	PINK1	0.66047829
66	STK38L	0.65599368
67	ADRBK1	0.65191240
68	FGFR2	0.63109109
69	MAP3K12	0.61196760
70	AKT3	0.60921482
71	ERBB4	0.59389368
72	CCNB1	0.57555953
73	DYRK1A	0.54548014
74	TGFBR1	0.53840238
75	TLK1	0.53781795
76	TESK1	0.50594616
77	DAPK2	0.48618905
78	FGFR1	0.48070717
79	NTRK2	0.47723461
80	RPS6KA5	0.47052279
81	CAMK2A	0.43231411
82	CDK8	0.42815554
83	AURKA	0.41704216
84	WNK4	0.41686080
85	PRKCG	0.41406198
86	PRKACB	0.40812898
87	EIF2AK1	0.40150318
88	EPHB1	0.39967685
89	LIMK1	0.39615248
90	CSNK1D	0.38258839
91	CSNK1A1	0.37960355
92	MAPK15	0.37339009
93	AURKB	0.37239246
94	PHKG1	0.35335604
95	PHKG2	0.35335604
96	NEK1	0.35286389
97	TIE1	0.33314548
98	CDK3	0.32297067
99	PRKCB	0.31978209
100	PRKDC	0.31481318

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.46321794
2	Non-homologous end-joining_Homo sapiens_hsa03450	3.31148692
3	Proteasome_Homo sapiens_hsa03050	3.03283545
4	Protein export_Homo sapiens_hsa03060	2.98892433
5	Phototransduction_Homo sapiens_hsa04744	2.70640086
6	Propanoate metabolism_Homo sapiens_hsa00640	2.39882405
7	Steroid biosynthesis_Homo sapiens_hsa00100	2.36411101
8	Butanoate metabolism_Homo sapiens_hsa00650	2.36309850
9	RNA polymerase_Homo sapiens_hsa03020	2.26884169
10	Basal transcription factors_Homo sapiens_hsa03022	2.11285057
11	Oxidative phosphorylation_Homo sapiens_hsa00190	1.98406988
12	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.98208593
13	Fanconi anemia pathway_Homo sapiens_hsa03460	1.94923875
14	RNA degradation_Homo sapiens_hsa03018	1.84399104
15	Homologous recombination_Homo sapiens_hsa03440	1.82093918
16	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.74135336
17	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.71406422
18	Selenocompound metabolism_Homo sapiens_hsa00450	1.69723338
19	Parkinsons disease_Homo sapiens_hsa05012	1.64151678
20	Nicotine addiction_Homo sapiens_hsa05033	1.58421305
21	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.55201705
22	Mismatch repair_Homo sapiens_hsa03430	1.54150233
23	Huntingtons disease_Homo sapiens_hsa05016	1.53319742
24	Caffeine metabolism_Homo sapiens_hsa00232	1.52016619
25	Spliceosome_Homo sapiens_hsa03040	1.47990875
26	Fatty acid elongation_Homo sapiens_hsa00062	1.47323401
27	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.41210980
28	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.40272602
29	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.37265731
30	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.34408939
31	Taste transduction_Homo sapiens_hsa04742	1.33572670
32	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.32486519
33	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.31541328
34	Nucleotide excision repair_Homo sapiens_hsa03420	1.29246570
35	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.28643727
36	Nitrogen metabolism_Homo sapiens_hsa00910	1.27702802
37	Base excision repair_Homo sapiens_hsa03410	1.21728897
38	Fatty acid metabolism_Homo sapiens_hsa01212	1.17830802
39	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.16574117
40	Olfactory transduction_Homo sapiens_hsa04740	1.14139932
41	RNA transport_Homo sapiens_hsa03013	1.12352498
42	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.12315788
43	Purine metabolism_Homo sapiens_hsa00230	1.12126230
44	Peroxisome_Homo sapiens_hsa04146	1.12014536
45	Oocyte meiosis_Homo sapiens_hsa04114	1.11531451
46	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.09925699
47	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.99508132
48	Pyrimidine metabolism_Homo sapiens_hsa00240	0.96562250
49	DNA replication_Homo sapiens_hsa03030	0.95507402
50	Fatty acid degradation_Homo sapiens_hsa00071	0.91674964
51	beta-Alanine metabolism_Homo sapiens_hsa00410	0.87906790
52	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.87380498
53	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.87014157
54	Alzheimers disease_Homo sapiens_hsa05010	0.81735516
55	Regulation of autophagy_Homo sapiens_hsa04140	0.81726523
56	Collecting duct acid secretion_Homo sapiens_hsa04966	0.80036451
57	Tryptophan metabolism_Homo sapiens_hsa00380	0.79857550
58	Circadian entrainment_Homo sapiens_hsa04713	0.76282620
59	ABC transporters_Homo sapiens_hsa02010	0.73570351
60	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.73439805
61	Morphine addiction_Homo sapiens_hsa05032	0.72729839
62	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.72448962
63	GABAergic synapse_Homo sapiens_hsa04727	0.71823804
64	Cell cycle_Homo sapiens_hsa04110	0.70102132
65	Metabolic pathways_Homo sapiens_hsa01100	0.69261121
66	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.67246797
67	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.66091498
68	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.65149627
69	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.62976927
70	One carbon pool by folate_Homo sapiens_hsa00670	0.62066077
71	Pyruvate metabolism_Homo sapiens_hsa00620	0.61543177
72	Insulin secretion_Homo sapiens_hsa04911	0.59403987
73	Retinol metabolism_Homo sapiens_hsa00830	0.59394278
74	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.56631755
75	Glutamatergic synapse_Homo sapiens_hsa04724	0.55488334
76	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.53679646
77	Cardiac muscle contraction_Homo sapiens_hsa04260	0.53034442
78	Carbon metabolism_Homo sapiens_hsa01200	0.51098327
79	Chemical carcinogenesis_Homo sapiens_hsa05204	0.49977702
80	Ether lipid metabolism_Homo sapiens_hsa00565	0.49696123
81	Alcoholism_Homo sapiens_hsa05034	0.48666014
82	Salivary secretion_Homo sapiens_hsa04970	0.48052833
83	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.47620246
84	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.46873549
85	Arginine and proline metabolism_Homo sapiens_hsa00330	0.46834898
86	Linoleic acid metabolism_Homo sapiens_hsa00591	0.46352893
87	Glycerolipid metabolism_Homo sapiens_hsa00561	0.46070942
88	Basal cell carcinoma_Homo sapiens_hsa05217	0.45255987
89	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.44241778
90	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.43150684
91	Dopaminergic synapse_Homo sapiens_hsa04728	0.41547416
92	Amphetamine addiction_Homo sapiens_hsa05031	0.38136432
93	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.37744379
94	Cocaine addiction_Homo sapiens_hsa05030	0.37167344
95	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.36258391
96	Axon guidance_Homo sapiens_hsa04360	0.35704329
97	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.34323062
98	p53 signaling pathway_Homo sapiens_hsa04115	0.33990533
99	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.33149983
100	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.32454642

EFTUD1P1

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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