ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	4.98522251
2	cornea development in camera-type eye (GO:0061303)	4.59620406
3	piRNA metabolic process (GO:0034587)	4.49493195
4	synapsis (GO:0007129)	4.15576353
5	DNA deamination (GO:0045006)	4.14324145
6	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.75101729
7	DNA methylation involved in gamete generation (GO:0043046)	3.70404221
8	L-fucose catabolic process (GO:0042355)	3.68204217
9	fucose catabolic process (GO:0019317)	3.68204217
10	L-fucose metabolic process (GO:0042354)	3.68204217
11	response to pheromone (GO:0019236)	3.66357431
12	male meiosis I (GO:0007141)	3.43720634
13	axoneme assembly (GO:0035082)	3.35808449
14	multicellular organism reproduction (GO:0032504)	3.35795089
15	male meiosis (GO:0007140)	3.29824516
16	protein complex biogenesis (GO:0070271)	3.22887048
17	regulation of glucokinase activity (GO:0033131)	3.22652845
18	regulation of hexokinase activity (GO:1903299)	3.22652845
19	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.20479878
20	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.20479878
21	NADH dehydrogenase complex assembly (GO:0010257)	3.20479878
22	respiratory chain complex IV assembly (GO:0008535)	3.16818653
23	platelet dense granule organization (GO:0060155)	3.14940983
24	cellular ketone body metabolic process (GO:0046950)	3.11199068
25	protein polyglutamylation (GO:0018095)	3.09367496
26	auditory receptor cell stereocilium organization (GO:0060088)	3.06601648
27	regulation of meiosis I (GO:0060631)	3.01751348
28	protein-cofactor linkage (GO:0018065)	3.00616057
29	regulation of cilium movement (GO:0003352)	2.99600375
30	epithelial cilium movement (GO:0003351)	2.98122348
31	retinal cone cell development (GO:0046549)	2.98114129
32	neural tube formation (GO:0001841)	2.97488321
33	mitochondrial respiratory chain complex assembly (GO:0033108)	2.96152451
34	indolalkylamine metabolic process (GO:0006586)	2.94166964
35	negative regulation of telomere maintenance (GO:0032205)	2.94044818
36	cilium morphogenesis (GO:0060271)	2.91834987
37	water-soluble vitamin biosynthetic process (GO:0042364)	2.91782200
38	inner ear receptor stereocilium organization (GO:0060122)	2.91094949
39	mannosylation (GO:0097502)	2.88666287
40	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.83790237
41	neuronal action potential (GO:0019228)	2.83653185
42	hindbrain development (GO:0030902)	2.83455681
43	ubiquinone biosynthetic process (GO:0006744)	2.80771679
44	ketone body metabolic process (GO:1902224)	2.80131251
45	tryptophan catabolic process (GO:0006569)	2.79529426
46	indole-containing compound catabolic process (GO:0042436)	2.79529426
47	indolalkylamine catabolic process (GO:0046218)	2.79529426
48	spinal cord motor neuron differentiation (GO:0021522)	2.78636616
49	nonmotile primary cilium assembly (GO:0035058)	2.77932220
50	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.76260625
51	detection of light stimulus involved in visual perception (GO:0050908)	2.75439182
52	detection of light stimulus involved in sensory perception (GO:0050962)	2.75439182
53	sperm motility (GO:0030317)	2.74599166
54	negative regulation of mast cell activation (GO:0033004)	2.74570376
55	positive regulation of defense response to virus by host (GO:0002230)	2.73350266
56	reciprocal DNA recombination (GO:0035825)	2.72494757
57	reciprocal meiotic recombination (GO:0007131)	2.72494757
58	regulation of memory T cell differentiation (GO:0043380)	2.70903105
59	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.68659299
60	regulation of hippo signaling (GO:0035330)	2.67989608
61	photoreceptor cell development (GO:0042461)	2.67425162
62	gamma-aminobutyric acid transport (GO:0015812)	2.67419995
63	kynurenine metabolic process (GO:0070189)	2.67031702
64	preassembly of GPI anchor in ER membrane (GO:0016254)	2.64318551
65	replication fork processing (GO:0031297)	2.64129850
66	cytochrome complex assembly (GO:0017004)	2.63559483
67	limb bud formation (GO:0060174)	2.63135715
68	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.62747234
69	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.62747234
70	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.62465575
71	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.62465575
72	DNA double-strand break processing (GO:0000729)	2.61185757
73	reflex (GO:0060004)	2.61084567
74	somite development (GO:0061053)	2.60255388
75	ubiquinone metabolic process (GO:0006743)	2.59540570
76	synaptic transmission, cholinergic (GO:0007271)	2.59025499
77	photoreceptor cell maintenance (GO:0045494)	2.58439325
78	cilium organization (GO:0044782)	2.56537594
79	meiotic chromosome segregation (GO:0045132)	2.53718795
80	resolution of meiotic recombination intermediates (GO:0000712)	2.52935983
81	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.52178376
82	dopamine transport (GO:0015872)	2.51514462
83	pseudouridine synthesis (GO:0001522)	2.51420044
84	rRNA catabolic process (GO:0016075)	2.50473942
85	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.49971636
86	cilium assembly (GO:0042384)	2.49865979
87	regulation of timing of cell differentiation (GO:0048505)	2.48255393
88	meiosis I (GO:0007127)	2.46390816
89	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.45878477
90	L-methionine salvage (GO:0071267)	2.45111541
91	L-methionine biosynthetic process (GO:0071265)	2.45111541
92	amino acid salvage (GO:0043102)	2.45111541
93	regulation of telomere maintenance (GO:0032204)	2.44492559
94	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.44437942
95	behavioral response to ethanol (GO:0048149)	2.44239712
96	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.43716933
97	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.43459259
98	positive regulation of meiosis (GO:0045836)	2.42842243
99	positive regulation of cell fate commitment (GO:0010455)	2.42658845
100	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.41072603

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.92772889
2	GBX2_23144817_ChIP-Seq_PC3_Human	2.98594173
3	VDR_22108803_ChIP-Seq_LS180_Human	2.65652889
4	IGF1R_20145208_ChIP-Seq_DFB_Human	2.56695580
5	EZH2_22144423_ChIP-Seq_EOC_Human	2.49635382
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.49217016
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.45707319
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.37997587
9	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.34864632
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.27010508
11	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.24787160
12	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.22307375
13	FUS_26573619_Chip-Seq_HEK293_Human	2.19929030
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.09757757
15	TAF15_26573619_Chip-Seq_HEK293_Human	2.08921662
16	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.04585578
17	P300_19829295_ChIP-Seq_ESCs_Human	2.04176264
18	EWS_26573619_Chip-Seq_HEK293_Human	2.00503346
19	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.95026997
20	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.91891356
21	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.91236435
22	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.85754400
23	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.80217740
24	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.74493857
25	TP53_22573176_ChIP-Seq_HFKS_Human	1.74085168
26	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.71913154
27	ER_23166858_ChIP-Seq_MCF-7_Human	1.70906599
28	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.69857444
29	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.68888726
30	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.68755844
31	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.65024998
32	CBP_20019798_ChIP-Seq_JUKART_Human	1.63888755
33	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.63888755
34	MYC_18940864_ChIP-ChIP_HL60_Human	1.56620814
35	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.53636833
36	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.53324980
37	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.52920038
38	BCAT_22108803_ChIP-Seq_LS180_Human	1.50083530
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.48128629
40	STAT3_23295773_ChIP-Seq_U87_Human	1.45080070
41	IRF1_19129219_ChIP-ChIP_H3396_Human	1.42162318
42	* TCF4_23295773_ChIP-Seq_U87_Human	1.42082951
43	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.41498123
44	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.40633047
45	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.38162542
46	AR_25329375_ChIP-Seq_VCAP_Human	1.38126874
47	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.37972792
48	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.37782342
49	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.37475888
50	SMAD4_21799915_ChIP-Seq_A2780_Human	1.37370123
51	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.37236980
52	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.37236980
53	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.35918082
54	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.35382393
55	REST_21632747_ChIP-Seq_MESCs_Mouse	1.35064994
56	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.33440271
57	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.33440271
58	NANOG_19829295_ChIP-Seq_ESCs_Human	1.32796888
59	SOX2_19829295_ChIP-Seq_ESCs_Human	1.32796888
60	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.30942523
61	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.29804174
62	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.29750415
63	RNF2_27304074_Chip-Seq_NSC_Mouse	1.26816655
64	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.25393374
65	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.25172063
66	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.24625193
67	RUNX2_22187159_ChIP-Seq_PCA_Human	1.24538447
68	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.21635140
69	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.21449031
70	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.19515987
71	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.18853921
72	TCF4_22108803_ChIP-Seq_LS180_Human	1.18765242
73	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.18718374
74	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.17848829
75	NCOR_22424771_ChIP-Seq_293T_Human	1.17120327
76	ELK1_19687146_ChIP-ChIP_HELA_Human	1.15330501
77	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.15068497
78	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.12556703
79	* VDR_23849224_ChIP-Seq_CD4+_Human	1.12218349
80	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.11992681
81	AR_20517297_ChIP-Seq_VCAP_Human	1.11757469
82	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.11342809
83	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.09176223
84	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.08950448
85	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.06935872
86	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.06881745
87	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.05571056
88	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.04943737
89	HOXB7_26014856_ChIP-Seq_BT474_Human	1.03521659
90	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.03186499
91	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.02347878
92	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.01935760
93	MYC_19829295_ChIP-Seq_ESCs_Human	1.00592897
94	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.98521098
95	HTT_18923047_ChIP-ChIP_STHdh_Human	0.98144413
96	P53_22387025_ChIP-Seq_ESCs_Mouse	0.97978952
97	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.97818945
98	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	0.97597045
99	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.96489201
100	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.96043456

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	4.33392019
2	MP0006292_abnormal_olfactory_placode	3.15070866
3	MP0003787_abnormal_imprinting	3.02736020
4	MP0002638_abnormal_pupillary_reflex	2.91776010
5	MP0002102_abnormal_ear_morphology	2.83222300
6	MP0006072_abnormal_retinal_apoptosis	2.33102626
7	MP0003195_calcinosis	2.33022768
8	MP0009046_muscle_twitch	2.24481454
9	MP0005551_abnormal_eye_electrophysiolog	2.16066285
10	MP0005646_abnormal_pituitary_gland	2.05317664
11	MP0000372_irregular_coat_pigmentation	2.04557066
12	MP0001968_abnormal_touch/_nociception	2.02974578
13	MP0003880_abnormal_central_pattern	1.94936315
14	MP0005253_abnormal_eye_physiology	1.91691273
15	MP0005645_abnormal_hypothalamus_physiol	1.90875943
16	MP0004147_increased_porphyrin_level	1.87692019
17	MP0002938_white_spotting	1.81231542
18	MP0001986_abnormal_taste_sensitivity	1.77435744
19	MP0009745_abnormal_behavioral_response	1.74211996
20	MP0001984_abnormal_olfaction	1.72361086
21	MP0002272_abnormal_nervous_system	1.71775200
22	MP0005410_abnormal_fertilization	1.71594846
23	MP0002837_dystrophic_cardiac_calcinosis	1.71263857
24	MP0002736_abnormal_nociception_after	1.68156141
25	MP0002160_abnormal_reproductive_system	1.67246583
26	MP0008789_abnormal_olfactory_epithelium	1.64681268
27	MP0008872_abnormal_physiological_respon	1.63619219
28	MP0002735_abnormal_chemical_nociception	1.61975896
29	MP0002234_abnormal_pharynx_morphology	1.61389994
30	MP0002876_abnormal_thyroid_physiology	1.52229758
31	MP0003718_maternal_effect	1.48220538
32	MP0005389_reproductive_system_phenotype	1.46483798
33	MP0006276_abnormal_autonomic_nervous	1.46402278
34	MP0001485_abnormal_pinna_reflex	1.46379286
35	MP0001486_abnormal_startle_reflex	1.46358070
36	MP0008995_early_reproductive_senescence	1.44790465
37	MP0008875_abnormal_xenobiotic_pharmacok	1.44535755
38	MP0003136_yellow_coat_color	1.42704350
39	MP0003646_muscle_fatigue	1.41602584
40	MP0000631_abnormal_neuroendocrine_gland	1.38934790
41	MP0000427_abnormal_hair_cycle	1.38853345
42	MP0005174_abnormal_tail_pigmentation	1.37542391
43	MP0003011_delayed_dark_adaptation	1.36782673
44	MP0003121_genomic_imprinting	1.34875185
45	MP0008058_abnormal_DNA_repair	1.34099254
46	MP0001529_abnormal_vocalization	1.33965179
47	MP0004142_abnormal_muscle_tone	1.32506797
48	MP0001501_abnormal_sleep_pattern	1.31577079
49	MP0005075_abnormal_melanosome_morpholog	1.27970914
50	MP0002064_seizures	1.26134494
51	MP0005386_behavior/neurological_phenoty	1.23170350
52	MP0004924_abnormal_behavior	1.23170350
53	MP0001929_abnormal_gametogenesis	1.23096787
54	MP0000569_abnormal_digit_pigmentation	1.23042325
55	MP0002572_abnormal_emotion/affect_behav	1.22263306
56	MP0003698_abnormal_male_reproductive	1.22053206
57	MP0004043_abnormal_pH_regulation	1.21195918
58	MP0005499_abnormal_olfactory_system	1.18875440
59	MP0005394_taste/olfaction_phenotype	1.18875440
60	MP0002557_abnormal_social/conspecific_i	1.18445425
61	MP0003283_abnormal_digestive_organ	1.15903808
62	MP0001919_abnormal_reproductive_system	1.15507714
63	MP0004885_abnormal_endolymph	1.11756080
64	MP0002210_abnormal_sex_determination	1.10912119
65	MP0004133_heterotaxia	1.10857633
66	MP0002733_abnormal_thermal_nociception	1.07244260
67	MP0003635_abnormal_synaptic_transmissio	1.06652553
68	MP0001970_abnormal_pain_threshold	1.02240390
69	MP0004742_abnormal_vestibular_system	1.01573585
70	MP0000383_abnormal_hair_follicle	1.01061148
71	MP0001905_abnormal_dopamine_level	1.00209972
72	MP0005377_hearing/vestibular/ear_phenot	0.99332697
73	MP0003878_abnormal_ear_physiology	0.99332697
74	MP0002653_abnormal_ependyma_morphology	0.97866221
75	MP0002067_abnormal_sensory_capabilities	0.97440088
76	MP0003786_premature_aging	0.97311088
77	MP0003119_abnormal_digestive_system	0.96662429
78	MP0005084_abnormal_gallbladder_morpholo	0.96635062
79	MP0005423_abnormal_somatic_nervous	0.96407353
80	MP0000778_abnormal_nervous_system	0.95372754
81	MP0002063_abnormal_learning/memory/cond	0.94830470
82	MP0001324_abnormal_eye_pigmentation	0.94661489
83	MP0005367_renal/urinary_system_phenotyp	0.93898608
84	MP0000516_abnormal_urinary_system	0.93898608
85	MP0004145_abnormal_muscle_electrophysio	0.92640026
86	MP0002095_abnormal_skin_pigmentation	0.91882954
87	MP0002734_abnormal_mechanical_nocicepti	0.91047554
88	MP0000653_abnormal_sex_gland	0.90043093
89	MP0003137_abnormal_impulse_conducting	0.88835703
90	MP0005379_endocrine/exocrine_gland_phen	0.88674272
91	MP0005195_abnormal_posterior_eye	0.88469050
92	MP0002751_abnormal_autonomic_nervous	0.87429444
93	MP0002229_neurodegeneration	0.87426581
94	MP0002184_abnormal_innervation	0.84755990
95	MP0001145_abnormal_male_reproductive	0.83917409
96	MP0002928_abnormal_bile_duct	0.83266622
97	MP0000647_abnormal_sebaceous_gland	0.81645057
98	MP0003252_abnormal_bile_duct	0.81229927
99	MP0001764_abnormal_homeostasis	0.80704127
100	MP0002752_abnormal_somatic_nervous	0.79890183

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.35341842
2	True hermaphroditism (HP:0010459)	3.87740650
3	Abnormality of midbrain morphology (HP:0002418)	3.86884824
4	Molar tooth sign on MRI (HP:0002419)	3.86884824
5	Pancreatic fibrosis (HP:0100732)	3.73572808
6	Congenital stationary night blindness (HP:0007642)	3.69072176
7	Nephronophthisis (HP:0000090)	3.53018029
8	Hyperventilation (HP:0002883)	3.27479069
9	Attenuation of retinal blood vessels (HP:0007843)	3.14062024
10	Aplasia/Hypoplasia of the fovea (HP:0008060)	3.13946465
11	Hypoplasia of the fovea (HP:0007750)	3.13946465
12	Type II lissencephaly (HP:0007260)	3.07842589
13	Abnormality of the renal cortex (HP:0011035)	3.05140785
14	Abnormality of the renal medulla (HP:0100957)	2.89212174
15	Medial flaring of the eyebrow (HP:0010747)	2.83171886
16	Focal motor seizures (HP:0011153)	2.73315865
17	Renal cortical cysts (HP:0000803)	2.61704340
18	Abolished electroretinogram (ERG) (HP:0000550)	2.59018963
19	Abnormal rod and cone electroretinograms (HP:0008323)	2.57797916
20	Cystic liver disease (HP:0006706)	2.56027713
21	Abnormality of the fovea (HP:0000493)	2.55521465
22	Broad-based gait (HP:0002136)	2.51783720
23	Chronic hepatic failure (HP:0100626)	2.49229523
24	Inability to walk (HP:0002540)	2.47720021
25	Progressive inability to walk (HP:0002505)	2.46890230
26	3-Methylglutaconic aciduria (HP:0003535)	2.39283374
27	Abnormality of alanine metabolism (HP:0010916)	2.37080868
28	Hyperalaninemia (HP:0003348)	2.37080868
29	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.37080868
30	Optic nerve hypoplasia (HP:0000609)	2.33034466
31	Pendular nystagmus (HP:0012043)	2.26241732
32	Increased CSF lactate (HP:0002490)	2.26217194
33	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.25919861
34	Gait imbalance (HP:0002141)	2.24907790
35	Mitochondrial inheritance (HP:0001427)	2.23374430
36	Sclerocornea (HP:0000647)	2.22249824
37	Large for gestational age (HP:0001520)	2.20810174
38	Lissencephaly (HP:0001339)	2.18843020
39	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.17010328
40	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.15282434
41	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.13746770
42	Bony spicule pigmentary retinopathy (HP:0007737)	2.13414872
43	Cerebellar dysplasia (HP:0007033)	2.13252679
44	Congenital primary aphakia (HP:0007707)	2.13024046
45	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.11708496
46	Abnormal biliary tract physiology (HP:0012439)	2.11675057
47	Bile duct proliferation (HP:0001408)	2.11675057
48	Type I transferrin isoform profile (HP:0003642)	2.11153987
49	Abnormality of the pons (HP:0007361)	2.09628133
50	Acute necrotizing encephalopathy (HP:0006965)	2.06790324
51	Type 2 muscle fiber atrophy (HP:0003554)	2.05449837
52	Anencephaly (HP:0002323)	2.03750556
53	Nephrogenic diabetes insipidus (HP:0009806)	2.03714381
54	Tubular atrophy (HP:0000092)	2.03164356
55	Hypoplasia of the pons (HP:0012110)	2.02615479
56	Polydipsia (HP:0001959)	2.01877377
57	Abnormal drinking behavior (HP:0030082)	2.01877377
58	Hypothermia (HP:0002045)	2.01132468
59	Hepatocellular necrosis (HP:0001404)	1.98591622
60	Hepatic necrosis (HP:0002605)	1.98332639
61	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.98196878
62	Absent/shortened dynein arms (HP:0200106)	1.98196878
63	Postaxial foot polydactyly (HP:0001830)	1.97543467
64	Acute encephalopathy (HP:0006846)	1.97481014
65	Thyroiditis (HP:0100646)	1.97234263
66	Abnormality of the labia minora (HP:0012880)	1.96736630
67	Congenital hepatic fibrosis (HP:0002612)	1.96389155
68	Gaze-evoked nystagmus (HP:0000640)	1.96351570
69	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.96330055
70	Abnormal protein N-linked glycosylation (HP:0012347)	1.96330055
71	Abnormal protein glycosylation (HP:0012346)	1.96330055
72	Abnormal glycosylation (HP:0012345)	1.96330055
73	Congenital, generalized hypertrichosis (HP:0004540)	1.96199993
74	Male pseudohermaphroditism (HP:0000037)	1.96005983
75	Progressive macrocephaly (HP:0004481)	1.95077434
76	Limb dystonia (HP:0002451)	1.94568717
77	Optic disc pallor (HP:0000543)	1.92616477
78	Methylmalonic acidemia (HP:0002912)	1.92003482
79	Keratoconus (HP:0000563)	1.90446118
80	Increased corneal curvature (HP:0100692)	1.90446118
81	Congenital sensorineural hearing impairment (HP:0008527)	1.89913793
82	Hemiparesis (HP:0001269)	1.88297267
83	Furrowed tongue (HP:0000221)	1.87856406
84	Aplasia/hypoplasia of the uterus (HP:0008684)	1.87840471
85	Patellar aplasia (HP:0006443)	1.84520279
86	Focal seizures (HP:0007359)	1.84244998
87	Short tibia (HP:0005736)	1.82437126
88	Lipid accumulation in hepatocytes (HP:0006561)	1.80519361
89	Decreased central vision (HP:0007663)	1.79399322
90	Aplasia/Hypoplasia of the patella (HP:0006498)	1.79010555
91	Constricted visual fields (HP:0001133)	1.78875044
92	Ketoacidosis (HP:0001993)	1.78281943
93	Increased serum lactate (HP:0002151)	1.77526892
94	Increased hepatocellular lipid droplets (HP:0006565)	1.77363696
95	Retinal dysplasia (HP:0007973)	1.77296026
96	Concave nail (HP:0001598)	1.77202445
97	Progressive microcephaly (HP:0000253)	1.72994418
98	Ketosis (HP:0001946)	1.72633813
99	Postaxial hand polydactyly (HP:0001162)	1.72230947
100	Genital tract atresia (HP:0001827)	1.72016375

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.91226807
2	INSRR	2.97685949
3	MAP4K2	2.93354088
4	MAPK13	2.82737816
5	WNK3	2.76942116
6	ADRBK2	2.66163510
7	ZAK	2.59678745
8	BMPR1B	2.57544377
9	GRK1	2.32167646
10	NUAK1	2.20072857
11	ACVR1B	2.15138891
12	MAP3K4	2.00592359
13	TXK	1.99374126
14	CASK	1.91575605
15	PNCK	1.84303545
16	TLK1	1.83969582
17	MARK1	1.83327251
18	NTRK3	1.68254473
19	WNK4	1.62270498
20	TRIM28	1.61872841
21	TAOK3	1.59469925
22	PRKD3	1.54093707
23	PINK1	1.47378202
24	OXSR1	1.41917951
25	BCKDK	1.34819244
26	VRK2	1.34271774
27	DAPK2	1.33544833
28	PLK2	1.33347788
29	PTK2B	1.32517599
30	STK39	1.22752794
31	MAP2K7	1.18881379
32	VRK1	1.12269387
33	PHKG1	1.07757928
34	PHKG2	1.07757928
35	EPHA4	1.05743676
36	PAK3	1.00956379
37	ERBB3	0.95321319
38	CSNK1G3	0.93337592
39	MKNK2	0.93132497
40	MST4	0.91502735
41	CSNK1G2	0.90985208
42	TGFBR1	0.89816495
43	PRKCE	0.89599797
44	MUSK	0.88951677
45	ADRBK1	0.88861417
46	CSNK1G1	0.88518493
47	STK38L	0.86955420
48	MAPKAPK3	0.85963894
49	EIF2AK3	0.84796461
50	TNIK	0.82833697
51	PRKCG	0.81529189
52	DYRK2	0.78218541
53	STK16	0.72244058
54	BRSK2	0.68447678
55	CSNK1A1L	0.68208486
56	SRPK1	0.64813244
57	WEE1	0.64700098
58	PKN1	0.64464513
59	PLK4	0.63040903
60	CAMKK2	0.62889008
61	KIT	0.61483856
62	PRKCI	0.59044616
63	MARK3	0.57960733
64	FGFR2	0.56169193
65	CDK19	0.54787273
66	PLK3	0.53932422
67	FER	0.53729400
68	CAMK2A	0.53141167
69	CDK3	0.51643422
70	TNK2	0.50123437
71	PRKCQ	0.49986586
72	CSNK1A1	0.45137090
73	PRKACA	0.43572781
74	PRKCZ	0.42947752
75	IKBKB	0.42174424
76	RPS6KA5	0.40700493
77	AKT3	0.40325044
78	CSNK1D	0.38972799
79	CAMK1	0.38426482
80	TIE1	0.38285994
81	CCNB1	0.37893359
82	MAP2K1	0.37292992
83	BCR	0.37233105
84	MAPKAPK5	0.35617389
85	PRKCH	0.33430115
86	MAPK15	0.33041110
87	PRKCA	0.32445910
88	PRKG1	0.31987401
89	PLK1	0.30927783
90	OBSCN	0.30364820
91	STK3	0.30325270
92	NME1	0.30235904
93	PAK6	0.28538943
94	FLT3	0.27870631
95	PIK3CA	0.27356528
96	EIF2AK2	0.26008993
97	IGF1R	0.25862940
98	ATM	0.25438311
99	PRKACB	0.25076004
100	STK11	0.24967345

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.75177833
2	Phototransduction_Homo sapiens_hsa04744	2.68911762
3	Butanoate metabolism_Homo sapiens_hsa00650	2.57955915
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.56132399
5	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.47523601
6	Oxidative phosphorylation_Homo sapiens_hsa00190	2.20797516
7	Nitrogen metabolism_Homo sapiens_hsa00910	2.14190678
8	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.11213414
9	Nicotine addiction_Homo sapiens_hsa05033	2.08529662
10	Selenocompound metabolism_Homo sapiens_hsa00450	2.08278554
11	Protein export_Homo sapiens_hsa03060	1.97910742
12	RNA polymerase_Homo sapiens_hsa03020	1.90073347
13	Linoleic acid metabolism_Homo sapiens_hsa00591	1.88267059
14	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.86575021
15	Homologous recombination_Homo sapiens_hsa03440	1.85762341
16	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.85528308
17	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.83884032
18	Propanoate metabolism_Homo sapiens_hsa00640	1.78649179
19	Fanconi anemia pathway_Homo sapiens_hsa03460	1.77066338
20	Basal transcription factors_Homo sapiens_hsa03022	1.76918503
21	Parkinsons disease_Homo sapiens_hsa05012	1.69208009
22	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.65828499
23	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.65392322
24	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.63321231
25	Peroxisome_Homo sapiens_hsa04146	1.53696883
26	Proteasome_Homo sapiens_hsa03050	1.52488488
27	RNA degradation_Homo sapiens_hsa03018	1.52358025
28	Caffeine metabolism_Homo sapiens_hsa00232	1.49043145
29	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.46678651
30	Taste transduction_Homo sapiens_hsa04742	1.40558380
31	Tryptophan metabolism_Homo sapiens_hsa00380	1.40263012
32	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.36159306
33	Ether lipid metabolism_Homo sapiens_hsa00565	1.35353029
34	Olfactory transduction_Homo sapiens_hsa04740	1.34947846
35	Regulation of autophagy_Homo sapiens_hsa04140	1.26260617
36	Steroid biosynthesis_Homo sapiens_hsa00100	1.18881017
37	Sulfur metabolism_Homo sapiens_hsa00920	1.14442961
38	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.13871346
39	Primary immunodeficiency_Homo sapiens_hsa05340	1.10699381
40	Huntingtons disease_Homo sapiens_hsa05016	1.08665239
41	Insulin secretion_Homo sapiens_hsa04911	1.07867624
42	Morphine addiction_Homo sapiens_hsa05032	1.07360552
43	Cardiac muscle contraction_Homo sapiens_hsa04260	1.07283904
44	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.04829444
45	Alzheimers disease_Homo sapiens_hsa05010	1.02497729
46	Circadian entrainment_Homo sapiens_hsa04713	0.99966371
47	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.97107430
48	Chemical carcinogenesis_Homo sapiens_hsa05204	0.96918994
49	Collecting duct acid secretion_Homo sapiens_hsa04966	0.96554630
50	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.93725126
51	GABAergic synapse_Homo sapiens_hsa04727	0.93144728
52	Retinol metabolism_Homo sapiens_hsa00830	0.92181968
53	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.91275550
54	Asthma_Homo sapiens_hsa05310	0.90375703
55	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.89100444
56	Glutamatergic synapse_Homo sapiens_hsa04724	0.86754089
57	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.86665134
58	ABC transporters_Homo sapiens_hsa02010	0.83988433
59	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.83986234
60	Serotonergic synapse_Homo sapiens_hsa04726	0.79858915
61	Fatty acid elongation_Homo sapiens_hsa00062	0.77876798
62	Purine metabolism_Homo sapiens_hsa00230	0.77719926
63	Non-homologous end-joining_Homo sapiens_hsa03450	0.73205221
64	Metabolic pathways_Homo sapiens_hsa01100	0.71711430
65	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.71610000
66	beta-Alanine metabolism_Homo sapiens_hsa00410	0.71067491
67	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.68577751
68	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.68268028
69	One carbon pool by folate_Homo sapiens_hsa00670	0.67792814
70	Calcium signaling pathway_Homo sapiens_hsa04020	0.66011044
71	RNA transport_Homo sapiens_hsa03013	0.64420873
72	Dopaminergic synapse_Homo sapiens_hsa04728	0.63039325
73	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.62980448
74	Pyrimidine metabolism_Homo sapiens_hsa00240	0.62065328
75	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.61211792
76	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.59327836
77	Salivary secretion_Homo sapiens_hsa04970	0.58695099
78	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.57320141
79	Fat digestion and absorption_Homo sapiens_hsa04975	0.56961721
80	Fatty acid metabolism_Homo sapiens_hsa01212	0.55640938
81	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.52459144
82	Nucleotide excision repair_Homo sapiens_hsa03420	0.49804728
83	Amphetamine addiction_Homo sapiens_hsa05031	0.49221477
84	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.47442065
85	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.45706104
86	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.44964014
87	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.43884187
88	Glycerolipid metabolism_Homo sapiens_hsa00561	0.43784348
89	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.43228508
90	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.43121387
91	Sulfur relay system_Homo sapiens_hsa04122	0.41228414
92	Fatty acid degradation_Homo sapiens_hsa00071	0.40652361
93	Type I diabetes mellitus_Homo sapiens_hsa04940	0.39573194
94	Base excision repair_Homo sapiens_hsa03410	0.37045389
95	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.36425832
96	Oocyte meiosis_Homo sapiens_hsa04114	0.36371511
97	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.35735086
98	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.35599668
99	Mismatch repair_Homo sapiens_hsa03430	0.35395083
100	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.35314217

ABCA17P

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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