ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	4.65346258
2	response to pheromone (GO:0019236)	4.03280651
3	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	4.00175772
4	regulation of cilium movement (GO:0003352)	3.79705828
5	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.53725011
6	L-fucose catabolic process (GO:0042355)	3.43871230
7	fucose catabolic process (GO:0019317)	3.43871230
8	L-fucose metabolic process (GO:0042354)	3.43871230
9	indolalkylamine metabolic process (GO:0006586)	3.33514736
10	regulation of meiosis I (GO:0060631)	3.32688889
11	detection of light stimulus involved in sensory perception (GO:0050962)	3.30297689
12	detection of light stimulus involved in visual perception (GO:0050908)	3.30297689
13	neural tube formation (GO:0001841)	3.30256825
14	retinal cone cell development (GO:0046549)	3.29695490
15	kynurenine metabolic process (GO:0070189)	3.29536013
16	nonmotile primary cilium assembly (GO:0035058)	3.25310039
17	cornea development in camera-type eye (GO:0061303)	3.25050962
18	limb bud formation (GO:0060174)	3.21816106
19	DNA double-strand break processing (GO:0000729)	3.19134554
20	indole-containing compound catabolic process (GO:0042436)	3.17844037
21	indolalkylamine catabolic process (GO:0046218)	3.17844037
22	tryptophan catabolic process (GO:0006569)	3.17844037
23	regulation of gene silencing by RNA (GO:0060966)	3.13817672
24	regulation of posttranscriptional gene silencing (GO:0060147)	3.13817672
25	regulation of gene silencing by miRNA (GO:0060964)	3.13817672
26	centriole replication (GO:0007099)	3.13775282
27	piRNA metabolic process (GO:0034587)	3.09610450
28	replication fork processing (GO:0031297)	3.09438817
29	protein K11-linked deubiquitination (GO:0035871)	3.08817956
30	respiratory chain complex IV assembly (GO:0008535)	3.07662438
31	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.05392065
32	platelet dense granule organization (GO:0060155)	3.04839628
33	somite development (GO:0061053)	3.02943895
34	pyrimidine nucleobase catabolic process (GO:0006208)	2.97332923
35	tryptophan metabolic process (GO:0006568)	2.94818553
36	regulation of collateral sprouting (GO:0048670)	2.94564723
37	inner ear receptor stereocilium organization (GO:0060122)	2.91373721
38	photoreceptor cell maintenance (GO:0045494)	2.86836704
39	ketone body metabolic process (GO:1902224)	2.86474884
40	cellular ketone body metabolic process (GO:0046950)	2.85837292
41	protein polyglutamylation (GO:0018095)	2.85835143
42	reflex (GO:0060004)	2.84535620
43	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.82093646
44	auditory receptor cell stereocilium organization (GO:0060088)	2.80509455
45	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.78431606
46	presynaptic membrane assembly (GO:0097105)	2.78345178
47	cilium morphogenesis (GO:0060271)	2.77674243
48	positive regulation of meiosis (GO:0045836)	2.76529963
49	DNA methylation involved in gamete generation (GO:0043046)	2.75340570
50	behavioral response to ethanol (GO:0048149)	2.74173268
51	regulation of microtubule-based movement (GO:0060632)	2.72282350
52	photoreceptor cell development (GO:0042461)	2.71362770
53	C4-dicarboxylate transport (GO:0015740)	2.69714903
54	indole-containing compound metabolic process (GO:0042430)	2.69371199
55	kidney morphogenesis (GO:0060993)	2.69168227
56	epithelial cilium movement (GO:0003351)	2.69116550
57	regulation of timing of cell differentiation (GO:0048505)	2.66977933
58	rhodopsin mediated signaling pathway (GO:0016056)	2.66646204
59	protein-cofactor linkage (GO:0018065)	2.65838578
60	regulation of action potential (GO:0098900)	2.65050377
61	gamma-aminobutyric acid transport (GO:0015812)	2.63803842
62	cytochrome complex assembly (GO:0017004)	2.63744027
63	neuronal action potential (GO:0019228)	2.63555640
64	regulation of hexokinase activity (GO:1903299)	2.63338544
65	regulation of glucokinase activity (GO:0033131)	2.63338544
66	negative regulation of telomere maintenance (GO:0032205)	2.61165596
67	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.60091419
68	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.60091419
69	regulation of translation, ncRNA-mediated (GO:0045974)	2.60091419
70	cilium organization (GO:0044782)	2.59017720
71	positive regulation of meiotic cell cycle (GO:0051446)	2.58165003
72	recombinational repair (GO:0000725)	2.56187050
73	regulation of telomere maintenance (GO:0032204)	2.55600870
74	double-strand break repair via homologous recombination (GO:0000724)	2.55441674
75	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.54718029
76	eye photoreceptor cell development (GO:0042462)	2.54120446
77	protein complex biogenesis (GO:0070271)	2.53808394
78	reciprocal meiotic recombination (GO:0007131)	2.53729811
79	reciprocal DNA recombination (GO:0035825)	2.53729811
80	protein K6-linked ubiquitination (GO:0085020)	2.53356671
81	intraciliary transport (GO:0042073)	2.53262050
82	nucleobase catabolic process (GO:0046113)	2.52920530
83	nephron tubule morphogenesis (GO:0072078)	2.50265626
84	nephron epithelium morphogenesis (GO:0072088)	2.50265626
85	water-soluble vitamin biosynthetic process (GO:0042364)	2.49310256
86	hindbrain development (GO:0030902)	2.49056230
87	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.49022706
88	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.49022706
89	NADH dehydrogenase complex assembly (GO:0010257)	2.49022706
90	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.47099860
91	multicellular organism reproduction (GO:0032504)	2.46820452
92	cilium assembly (GO:0042384)	2.45692944
93	regulation of hippo signaling (GO:0035330)	2.44033452
94	embryonic epithelial tube formation (GO:0001838)	2.43904828
95	axoneme assembly (GO:0035082)	2.43417372
96	oxidative demethylation (GO:0070989)	2.42361926
97	presynaptic membrane organization (GO:0097090)	2.40701072
98	microtubule anchoring (GO:0034453)	2.40681719
99	neurotransmitter-gated ion channel clustering (GO:0072578)	2.39686119
100	protein localization to cilium (GO:0061512)	2.38630970

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.70200223
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.47630726
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.37530552
4	VDR_22108803_ChIP-Seq_LS180_Human	3.11958479
5	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.88434748
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.80280687
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.79178853
8	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.58108436
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.55989320
10	IGF1R_20145208_ChIP-Seq_DFB_Human	2.40837698
11	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.38528319
12	P300_19829295_ChIP-Seq_ESCs_Human	2.20042079
13	FUS_26573619_Chip-Seq_HEK293_Human	2.14609944
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.13175523
15	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.09624942
16	EWS_26573619_Chip-Seq_HEK293_Human	2.09188450
17	TAF15_26573619_Chip-Seq_HEK293_Human	2.06459133
18	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.96004512
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.84672312
20	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.78066007
21	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.77657866
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.76016742
23	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.75671943
24	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.75659636
25	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.68782466
26	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.68782466
27	SMAD4_21799915_ChIP-Seq_A2780_Human	1.66144593
28	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.62578816
29	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.59846548
30	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.58406585
31	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.58183375
32	CBP_20019798_ChIP-Seq_JUKART_Human	1.56779770
33	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.56779770
34	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.56559567
35	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.56079870
36	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.53871935
37	TCF4_23295773_ChIP-Seq_U87_Human	1.53678202
38	STAT3_23295773_ChIP-Seq_U87_Human	1.53224998
39	AR_25329375_ChIP-Seq_VCAP_Human	1.52431406
40	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.49403300
41	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.47539418
42	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.46342814
43	IRF1_19129219_ChIP-ChIP_H3396_Human	1.44746158
44	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.44568517
45	BCAT_22108803_ChIP-Seq_LS180_Human	1.43603354
46	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.41740844
47	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.40657419
48	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.39122104
49	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.38250618
50	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.37731280
51	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.36721532
52	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.36045715
53	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.35038034
54	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.34472845
55	AR_21572438_ChIP-Seq_LNCaP_Human	1.33574795
56	TP53_22573176_ChIP-Seq_HFKS_Human	1.32998264
57	RUNX2_22187159_ChIP-Seq_PCA_Human	1.31487299
58	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.29202601
59	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.27970487
60	TCF4_22108803_ChIP-Seq_LS180_Human	1.26839273
61	MYC_18940864_ChIP-ChIP_HL60_Human	1.26746131
62	REST_21632747_ChIP-Seq_MESCs_Mouse	1.26283063
63	RNF2_27304074_Chip-Seq_NSC_Mouse	1.24385161
64	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.22972023
65	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.22676390
66	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.22100098
67	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.21836031
68	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.20167618
69	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.18613798
70	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.18525961
71	SOX2_19829295_ChIP-Seq_ESCs_Human	1.17842955
72	NANOG_19829295_ChIP-Seq_ESCs_Human	1.17842955
73	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.17299541
74	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.16718076
75	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.16697149
76	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.16492172
77	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.15423249
78	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.15298049
79	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.14943106
80	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.13680863
81	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.12325278
82	P53_22387025_ChIP-Seq_ESCs_Mouse	1.12169594
83	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.11917351
84	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.11917351
85	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.07995467
86	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.05531246
87	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.04830992
88	ELK1_19687146_ChIP-ChIP_HELA_Human	1.04421649
89	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.02702313
90	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.01633609
91	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.00460134
92	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.00432922
93	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.00123045
94	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.99930979
95	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.98892731
96	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.98108381
97	AR_20517297_ChIP-Seq_VCAP_Human	0.96370414
98	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.94101007
99	HOXB7_26014856_ChIP-Seq_BT474_Human	0.93976918
100	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.93677168

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.17413098
2	MP0005551_abnormal_eye_electrophysiolog	2.57902049
3	MP0003646_muscle_fatigue	2.49683692
4	MP0002102_abnormal_ear_morphology	2.45557424
5	MP0006292_abnormal_olfactory_placode	2.37958929
6	MP0003195_calcinosis	2.29224639
7	MP0000372_irregular_coat_pigmentation	2.28944114
8	MP0008872_abnormal_physiological_respon	2.24014892
9	MP0003880_abnormal_central_pattern	2.18201983
10	MP0002736_abnormal_nociception_after	2.12901157
11	MP0006072_abnormal_retinal_apoptosis	2.12873501
12	MP0001968_abnormal_touch/_nociception	2.11164620
13	MP0004885_abnormal_endolymph	2.10508255
14	MP0003787_abnormal_imprinting	2.09929633
15	MP0001984_abnormal_olfaction	1.92521848
16	MP0000569_abnormal_digit_pigmentation	1.87607496
17	MP0002938_white_spotting	1.84048083
18	MP0005253_abnormal_eye_physiology	1.77883388
19	MP0009745_abnormal_behavioral_response	1.77690390
20	MP0004142_abnormal_muscle_tone	1.75593707
21	MP0006276_abnormal_autonomic_nervous	1.73622132
22	MP0005645_abnormal_hypothalamus_physiol	1.71299551
23	MP0004133_heterotaxia	1.70317414
24	MP0004043_abnormal_pH_regulation	1.69853505
25	MP0002837_dystrophic_cardiac_calcinosis	1.69492839
26	MP0001485_abnormal_pinna_reflex	1.68766604
27	MP0002272_abnormal_nervous_system	1.65911973
28	MP0000427_abnormal_hair_cycle	1.62680654
29	MP0000631_abnormal_neuroendocrine_gland	1.61753115
30	MP0001529_abnormal_vocalization	1.57055038
31	MP0001486_abnormal_startle_reflex	1.55181606
32	MP0009046_muscle_twitch	1.46928672
33	MP0002234_abnormal_pharynx_morphology	1.37998944
34	MP0002163_abnormal_gland_morphology	1.37240094
35	MP0003283_abnormal_digestive_organ	1.36312395
36	MP0003136_yellow_coat_color	1.36266515
37	MP0003121_genomic_imprinting	1.36210402
38	MP0001986_abnormal_taste_sensitivity	1.35077076
39	MP0005084_abnormal_gallbladder_morpholo	1.34579084
40	MP0008789_abnormal_olfactory_epithelium	1.31920139
41	MP0002638_abnormal_pupillary_reflex	1.26079158
42	MP0002572_abnormal_emotion/affect_behav	1.26015633
43	MP0003718_maternal_effect	1.25091639
44	MP0002751_abnormal_autonomic_nervous	1.25025942
45	MP0001501_abnormal_sleep_pattern	1.23980848
46	MP0004215_abnormal_myocardial_fiber	1.23511676
47	MP0002557_abnormal_social/conspecific_i	1.23039988
48	MP0002735_abnormal_chemical_nociception	1.22830458
49	MP0000778_abnormal_nervous_system	1.21479736
50	MP0002876_abnormal_thyroid_physiology	1.18602402
51	MP0005646_abnormal_pituitary_gland	1.16771898
52	MP0005195_abnormal_posterior_eye	1.15658286
53	MP0005174_abnormal_tail_pigmentation	1.15170098
54	MP0008875_abnormal_xenobiotic_pharmacok	1.14875477
55	MP0002067_abnormal_sensory_capabilities	1.14543450
56	MP0002064_seizures	1.12813393
57	MP0002734_abnormal_mechanical_nocicepti	1.12093326
58	MP0004924_abnormal_behavior	1.08982397
59	MP0005386_behavior/neurological_phenoty	1.08982397
60	MP0003698_abnormal_male_reproductive	1.07204188
61	MP0003567_abnormal_fetal_cardiomyocyte	1.06496867
62	MP0004742_abnormal_vestibular_system	1.05941371
63	MP0003122_maternal_imprinting	1.05101732
64	MP0010386_abnormal_urinary_bladder	1.01820207
65	MP0003635_abnormal_synaptic_transmissio	1.01711733
66	MP0002095_abnormal_skin_pigmentation	1.01222778
67	MP0002277_abnormal_respiratory_mucosa	0.99699929
68	MP0002210_abnormal_sex_determination	0.99353322
69	MP0004145_abnormal_muscle_electrophysio	0.98931865
70	MP0000647_abnormal_sebaceous_gland	0.98872166
71	MP0002653_abnormal_ependyma_morphology	0.98355617
72	MP0003137_abnormal_impulse_conducting	0.98129832
73	MP0001970_abnormal_pain_threshold	0.97738629
74	MP0005379_endocrine/exocrine_gland_phen	0.97143429
75	MP0001929_abnormal_gametogenesis	0.96957049
76	MP0002184_abnormal_innervation	0.96261645
77	MP0003890_abnormal_embryonic-extraembry	0.96174851
78	MP0002752_abnormal_somatic_nervous	0.96112553
79	MP0000026_abnormal_inner_ear	0.95899018
80	MP0002063_abnormal_learning/memory/cond	0.95480885
81	MP0008058_abnormal_DNA_repair	0.95215742
82	MP0004147_increased_porphyrin_level	0.95098082
83	MP0002733_abnormal_thermal_nociception	0.94845112
84	MP0001324_abnormal_eye_pigmentation	0.93865580
85	MP0002928_abnormal_bile_duct	0.93088054
86	MP0002160_abnormal_reproductive_system	0.91430161
87	MP0000015_abnormal_ear_pigmentation	0.91202966
88	MP0003119_abnormal_digestive_system	0.90247522
89	MP0005410_abnormal_fertilization	0.88976667
90	MP0000383_abnormal_hair_follicle	0.85923776
91	MP0003950_abnormal_plasma_membrane	0.84588956
92	MP0008775_abnormal_heart_ventricle	0.84357963
93	MP0005389_reproductive_system_phenotype	0.83973466
94	MP0001963_abnormal_hearing_physiology	0.81986035
95	MP0002233_abnormal_nose_morphology	0.80425127
96	MP0003937_abnormal_limbs/digits/tail_de	0.79151142
97	MP0005499_abnormal_olfactory_system	0.79023369
98	MP0005394_taste/olfaction_phenotype	0.79023369
99	MP0000653_abnormal_sex_gland	0.78947098
100	MP0004085_abnormal_heartbeat	0.77616538

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.08411888
2	Molar tooth sign on MRI (HP:0002419)	3.85990996
3	Abnormality of midbrain morphology (HP:0002418)	3.85990996
4	Nephronophthisis (HP:0000090)	3.65627537
5	Pancreatic fibrosis (HP:0100732)	3.62780637
6	True hermaphroditism (HP:0010459)	3.55276187
7	Abnormality of the renal cortex (HP:0011035)	3.34872083
8	Abnormality of the renal medulla (HP:0100957)	3.28837784
9	Congenital stationary night blindness (HP:0007642)	3.17414732
10	Medial flaring of the eyebrow (HP:0010747)	3.03516457
11	Type II lissencephaly (HP:0007260)	3.00744438
12	Hyperventilation (HP:0002883)	2.93319712
13	Intestinal atresia (HP:0011100)	2.83311180
14	Attenuation of retinal blood vessels (HP:0007843)	2.81198247
15	Abnormality of the labia minora (HP:0012880)	2.59126332
16	Tubular atrophy (HP:0000092)	2.58385049
17	Gait imbalance (HP:0002141)	2.52507267
18	Lissencephaly (HP:0001339)	2.52373943
19	Congenital, generalized hypertrichosis (HP:0004540)	2.48669360
20	Abolished electroretinogram (ERG) (HP:0000550)	2.48206992
21	Cystic liver disease (HP:0006706)	2.47183186
22	Progressive inability to walk (HP:0002505)	2.46544526
23	Chronic hepatic failure (HP:0100626)	2.43155522
24	Abnormal rod and cone electroretinograms (HP:0008323)	2.42754510
25	Methylmalonic acidemia (HP:0002912)	2.41042660
26	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.40894090
27	Congenital primary aphakia (HP:0007707)	2.36605926
28	Pachygyria (HP:0001302)	2.35069048
29	Abnormal drinking behavior (HP:0030082)	2.35015803
30	Polydipsia (HP:0001959)	2.35015803
31	Inability to walk (HP:0002540)	2.34362595
32	Large for gestational age (HP:0001520)	2.32800077
33	Nephrogenic diabetes insipidus (HP:0009806)	2.31629870
34	Focal motor seizures (HP:0011153)	2.29647587
35	Bony spicule pigmentary retinopathy (HP:0007737)	2.26672273
36	Febrile seizures (HP:0002373)	2.20000502
37	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.19806370
38	Sclerocornea (HP:0000647)	2.18672716
39	Increased corneal curvature (HP:0100692)	2.18065338
40	Keratoconus (HP:0000563)	2.18065338
41	Protruding tongue (HP:0010808)	2.17447589
42	Renal cortical cysts (HP:0000803)	2.17389786
43	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.17071981
44	Genital tract atresia (HP:0001827)	2.14871780
45	Increased CSF lactate (HP:0002490)	2.13072779
46	Broad-based gait (HP:0002136)	2.11961266
47	Congenital hepatic fibrosis (HP:0002612)	2.11460890
48	Mitochondrial inheritance (HP:0001427)	2.11406198
49	Hemiparesis (HP:0001269)	2.08791466
50	Polyuria (HP:0000103)	2.08481571
51	Anencephaly (HP:0002323)	2.08070937
52	Vaginal atresia (HP:0000148)	2.06106250
53	Cerebellar dysplasia (HP:0007033)	2.03225754
54	Acute necrotizing encephalopathy (HP:0006965)	2.02255413
55	Methylmalonic aciduria (HP:0012120)	2.01247795
56	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.99823434
57	Hypoplasia of the fovea (HP:0007750)	1.99823434
58	Decreased central vision (HP:0007663)	1.96648767
59	Abnormality of the ileum (HP:0001549)	1.96647115
60	Widely spaced teeth (HP:0000687)	1.95223493
61	Abnormality of alanine metabolism (HP:0010916)	1.94572310
62	Hyperalaninemia (HP:0003348)	1.94572310
63	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.94572310
64	Meckel diverticulum (HP:0002245)	1.93987864
65	Concave nail (HP:0001598)	1.93751011
66	Gaze-evoked nystagmus (HP:0000640)	1.93257615
67	Oligodactyly (hands) (HP:0001180)	1.92478812
68	Postaxial foot polydactyly (HP:0001830)	1.92285054
69	Hypoplastic iliac wings (HP:0002866)	1.91928486
70	Astigmatism (HP:0000483)	1.91561244
71	Tubulointerstitial abnormality (HP:0001969)	1.90503982
72	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.90337165
73	Gastrointestinal atresia (HP:0002589)	1.88997008
74	Optic nerve hypoplasia (HP:0000609)	1.88044821
75	Tubulointerstitial fibrosis (HP:0005576)	1.87467777
76	Progressive macrocephaly (HP:0004481)	1.86674303
77	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.86545333
78	Pendular nystagmus (HP:0012043)	1.86130111
79	Small hand (HP:0200055)	1.85883480
80	Severe muscular hypotonia (HP:0006829)	1.84434230
81	Optic disc pallor (HP:0000543)	1.84185819
82	Postaxial hand polydactyly (HP:0001162)	1.82407038
83	Volvulus (HP:0002580)	1.80945624
84	Preaxial hand polydactyly (HP:0001177)	1.80433391
85	Focal seizures (HP:0007359)	1.80292522
86	Narrow forehead (HP:0000341)	1.78392021
87	Poor coordination (HP:0002370)	1.78366624
88	Lipid accumulation in hepatocytes (HP:0006561)	1.77527975
89	Absent speech (HP:0001344)	1.76998935
90	Abnormality of macular pigmentation (HP:0008002)	1.76124194
91	Male pseudohermaphroditism (HP:0000037)	1.75980405
92	Hepatocellular necrosis (HP:0001404)	1.75016327
93	Increased hepatocellular lipid droplets (HP:0006565)	1.74758950
94	Dandy-Walker malformation (HP:0001305)	1.74674031
95	Furrowed tongue (HP:0000221)	1.74420414
96	Sloping forehead (HP:0000340)	1.74174942
97	Abnormality of the duodenum (HP:0002246)	1.71171047
98	Patellar aplasia (HP:0006443)	1.69624633
99	Aganglionic megacolon (HP:0002251)	1.68881533
100	Abnormality of the fovea (HP:0000493)	1.68622760

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.05755655
2	WNK3	3.35524599
3	BMPR1B	2.71337798
4	ADRBK2	2.67604147
5	PINK1	2.60707100
6	MAPK13	2.56509404
7	MAP4K2	2.54669071
8	ACVR1B	2.31843665
9	MARK1	2.31552089
10	NUAK1	2.30199009
11	TAF1	2.20417229
12	ZAK	2.13286241
13	TNIK	2.00651067
14	MAP3K4	1.94916978
15	GRK1	1.91459761
16	PNCK	1.86585725
17	CASK	1.80200971
18	TAOK3	1.65713684
19	WNK4	1.60436252
20	STK39	1.59117601
21	AKT3	1.52369541
22	INSRR	1.47097292
23	PAK3	1.42625970
24	MKNK2	1.39905789
25	BRSK2	1.27374929
26	WEE1	1.24852427
27	PLK2	1.23187552
28	STK38L	1.17111055
29	PRKCE	1.15074365
30	OXSR1	1.14385045
31	TLK1	1.13825206
32	NTRK3	1.12444326
33	TRIM28	1.12141663
34	ERBB3	1.10343617
35	DYRK2	1.09536950
36	PHKG2	1.09397095
37	PHKG1	1.09397095
38	EPHA4	1.04900913
39	BCR	0.98353757
40	PRKCG	0.97847282
41	PLK4	0.94273277
42	MARK3	0.92826003
43	PTK2B	0.91506174
44	ADRBK1	0.91125912
45	FLT3	0.90832930
46	VRK1	0.89965126
47	MST4	0.88334300
48	PLK3	0.88152375
49	PDK2	0.84317898
50	MAP2K7	0.83330429
51	CCNB1	0.81905169
52	CSNK1G1	0.81239298
53	FGFR2	0.80881301
54	PRKCI	0.79337103
55	EIF2AK3	0.77449886
56	SIK2	0.77340803
57	OBSCN	0.77233760
58	MAP2K6	0.76275340
59	NTRK2	0.74939475
60	NEK1	0.74201466
61	TGFBR1	0.68243624
62	DAPK2	0.68144227
63	NEK2	0.65084976
64	PKN1	0.64191722
65	CSNK1G2	0.63713123
66	MKNK1	0.63435627
67	CDK3	0.63037910
68	BCKDK	0.62097277
69	CAMKK2	0.59853299
70	CAMK2A	0.59492219
71	PLK1	0.58466658
72	MAPKAPK5	0.56656201
73	SGK2	0.54662735
74	STK11	0.54552880
75	PIK3CG	0.54157448
76	TIE1	0.52618060
77	EPHA3	0.52533755
78	CSNK1G3	0.52263364
79	CDK8	0.52199489
80	IRAK4	0.50996215
81	PRKCQ	0.49756837
82	PRKG1	0.48941166
83	MAPKAPK3	0.48036819
84	PIK3CA	0.47068621
85	PRKACA	0.46549334
86	PRKCZ	0.43242706
87	NLK	0.41563636
88	CSNK1A1L	0.39311351
89	CHEK2	0.39200229
90	PRKAA1	0.39198111
91	CSNK1D	0.38764500
92	LMTK2	0.37362664
93	CSNK1A1	0.37323086
94	DYRK1A	0.36230639
95	MAP2K4	0.35332883
96	STK3	0.35290168
97	SIK3	0.34061538
98	ATM	0.32013749
99	FGFR1	0.31105564
100	CDC7	0.29869410

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	3.32385238
2	Butanoate metabolism_Homo sapiens_hsa00650	2.74734272
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.72452876
4	Selenocompound metabolism_Homo sapiens_hsa00450	2.39110436
5	Linoleic acid metabolism_Homo sapiens_hsa00591	2.38255105
6	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.27358851
7	Nitrogen metabolism_Homo sapiens_hsa00910	2.21570022
8	Protein export_Homo sapiens_hsa03060	2.21116572
9	Basal transcription factors_Homo sapiens_hsa03022	2.02721594
10	Nicotine addiction_Homo sapiens_hsa05033	2.01875698
11	Fanconi anemia pathway_Homo sapiens_hsa03460	1.96959057
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.95099205
13	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.94033241
14	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.92970784
15	Oxidative phosphorylation_Homo sapiens_hsa00190	1.89276598
16	Propanoate metabolism_Homo sapiens_hsa00640	1.88856000
17	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.87874610
18	Homologous recombination_Homo sapiens_hsa03440	1.81149793
19	Tryptophan metabolism_Homo sapiens_hsa00380	1.80091493
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.72532548
21	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.64954204
22	Caffeine metabolism_Homo sapiens_hsa00232	1.64755240
23	Olfactory transduction_Homo sapiens_hsa04740	1.62641275
24	Ether lipid metabolism_Homo sapiens_hsa00565	1.62484325
25	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.61575359
26	Parkinsons disease_Homo sapiens_hsa05012	1.54085886
27	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.53140884
28	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.43176394
29	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.40605998
30	Taste transduction_Homo sapiens_hsa04742	1.37228076
31	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.32738284
32	RNA degradation_Homo sapiens_hsa03018	1.30492424
33	Regulation of autophagy_Homo sapiens_hsa04140	1.30012894
34	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.28133915
35	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.24807199
36	Morphine addiction_Homo sapiens_hsa05032	1.22721449
37	Chemical carcinogenesis_Homo sapiens_hsa05204	1.20637448
38	Circadian rhythm_Homo sapiens_hsa04710	1.10190699
39	Serotonergic synapse_Homo sapiens_hsa04726	1.08509256
40	Circadian entrainment_Homo sapiens_hsa04713	1.08120525
41	Glutamatergic synapse_Homo sapiens_hsa04724	1.07830218
42	Peroxisome_Homo sapiens_hsa04146	1.07661964
43	Cardiac muscle contraction_Homo sapiens_hsa04260	1.04333061
44	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.04145522
45	Insulin secretion_Homo sapiens_hsa04911	1.03569615
46	Huntingtons disease_Homo sapiens_hsa05016	0.99497655
47	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.98220144
48	Steroid biosynthesis_Homo sapiens_hsa00100	0.96338204
49	Alzheimers disease_Homo sapiens_hsa05010	0.95707447
50	Non-homologous end-joining_Homo sapiens_hsa03450	0.94484486
51	RNA polymerase_Homo sapiens_hsa03020	0.94348044
52	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.92534220
53	GABAergic synapse_Homo sapiens_hsa04727	0.92296157
54	ABC transporters_Homo sapiens_hsa02010	0.92007924
55	beta-Alanine metabolism_Homo sapiens_hsa00410	0.91524905
56	One carbon pool by folate_Homo sapiens_hsa00670	0.90741379
57	Fatty acid elongation_Homo sapiens_hsa00062	0.89735658
58	Retinol metabolism_Homo sapiens_hsa00830	0.83587019
59	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.83005832
60	Long-term depression_Homo sapiens_hsa04730	0.82775558
61	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.80422877
62	Calcium signaling pathway_Homo sapiens_hsa04020	0.76720269
63	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.74693573
64	Dopaminergic synapse_Homo sapiens_hsa04728	0.71792209
65	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.71529896
66	Salivary secretion_Homo sapiens_hsa04970	0.69945353
67	Collecting duct acid secretion_Homo sapiens_hsa04966	0.68888896
68	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.68310582
69	Lysine degradation_Homo sapiens_hsa00310	0.67642494
70	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.66317595
71	Fat digestion and absorption_Homo sapiens_hsa04975	0.64597846
72	Glycerolipid metabolism_Homo sapiens_hsa00561	0.64524360
73	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.63627718
74	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.63082369
75	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.60983431
76	Purine metabolism_Homo sapiens_hsa00230	0.58524771
77	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.57833097
78	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.57706859
79	Proteasome_Homo sapiens_hsa03050	0.55085142
80	Metabolic pathways_Homo sapiens_hsa01100	0.54066317
81	Fatty acid degradation_Homo sapiens_hsa00071	0.53888734
82	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.52451953
83	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.47116076
84	Histidine metabolism_Homo sapiens_hsa00340	0.46694240
85	Gastric acid secretion_Homo sapiens_hsa04971	0.44269854
86	cAMP signaling pathway_Homo sapiens_hsa04024	0.43876277
87	Amphetamine addiction_Homo sapiens_hsa05031	0.43650165
88	Basal cell carcinoma_Homo sapiens_hsa05217	0.42549130
89	Nucleotide excision repair_Homo sapiens_hsa03420	0.42465742
90	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.41017531
91	Oocyte meiosis_Homo sapiens_hsa04114	0.39280379
92	Mismatch repair_Homo sapiens_hsa03430	0.38599378
93	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.37826877
94	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.37115695
95	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.36712828
96	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.36127766
97	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.35961031
98	Cholinergic synapse_Homo sapiens_hsa04725	0.34337115
99	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.34111350
100	Arginine and proline metabolism_Homo sapiens_hsa00330	0.33760352

CLCN3P1

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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