ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	limb bud formation (GO:0060174)	5.59695059
2	pre-miRNA processing (GO:0031054)	5.41309996
3	piRNA metabolic process (GO:0034587)	4.89857125
4	meiotic chromosome segregation (GO:0045132)	4.68206880
5	negative regulation of cytosolic calcium ion concentration (GO:0051481)	4.62914831
6	tryptophan catabolic process (GO:0006569)	4.51144932
7	indole-containing compound catabolic process (GO:0042436)	4.51144932
8	indolalkylamine catabolic process (GO:0046218)	4.51144932
9	neural tube formation (GO:0001841)	4.19314644
10	glial cell proliferation (GO:0014009)	4.15535769
11	detection of light stimulus involved in sensory perception (GO:0050962)	4.07101443
12	detection of light stimulus involved in visual perception (GO:0050908)	4.07101443
13	DNA methylation involved in gamete generation (GO:0043046)	3.96487818
14	tryptophan metabolic process (GO:0006568)	3.92629123
15	indolalkylamine metabolic process (GO:0006586)	3.83144915
16	microtubule polymerization or depolymerization (GO:0031109)	3.75449738
17	histone mRNA catabolic process (GO:0071044)	3.70710496
18	spinal cord development (GO:0021510)	3.70430078
19	cornea development in camera-type eye (GO:0061303)	3.64801339
20	spinal cord motor neuron differentiation (GO:0021522)	3.60531403
21	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.58420369
22	keratinocyte development (GO:0003334)	3.58359122
23	cellular response to ATP (GO:0071318)	3.50913791
24	vascular smooth muscle contraction (GO:0014829)	3.50299767
25	regulation of timing of cell differentiation (GO:0048505)	3.47772887
26	inositol phosphate catabolic process (GO:0071545)	3.46407531
27	central nervous system projection neuron axonogenesis (GO:0021952)	3.45818706
28	amine catabolic process (GO:0009310)	3.44770515
29	cellular biogenic amine catabolic process (GO:0042402)	3.44770515
30	positive regulation of mitochondrial fission (GO:0090141)	3.37488576
31	sympathetic nervous system development (GO:0048485)	3.37414971
32	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:004316	3.34819434
33	histone H2A acetylation (GO:0043968)	3.31668005
34	regulation of short-term neuronal synaptic plasticity (GO:0048172)	3.29029769
35	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.28342584
36	dendritic spine morphogenesis (GO:0060997)	3.28161558
37	kynurenine metabolic process (GO:0070189)	3.25880108
38	iron coordination entity transport (GO:1901678)	3.25534402
39	axoneme assembly (GO:0035082)	3.24425025
40	cilium or flagellum-dependent cell motility (GO:0001539)	3.21811364
41	somite development (GO:0061053)	3.21422168
42	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.19340691
43	central nervous system neuron axonogenesis (GO:0021955)	3.17559841
44	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	3.16312939
45	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	3.16312939
46	ncRNA catabolic process (GO:0034661)	3.16029550
47	polyol catabolic process (GO:0046174)	3.14016002
48	photoreceptor cell maintenance (GO:0045494)	3.12656192
49	hyperosmotic salinity response (GO:0042538)	3.12319815
50	pteridine-containing compound biosynthetic process (GO:0042559)	3.09567802
51	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.08121066
52	regulation of development, heterochronic (GO:0040034)	3.07965019
53	calcium ion import (GO:0070509)	3.06320732
54	startle response (GO:0001964)	3.05574484
55	cell migration in hindbrain (GO:0021535)	3.05146889
56	regulation of energy homeostasis (GO:2000505)	3.05066429
57	water-soluble vitamin biosynthetic process (GO:0042364)	3.02986723
58	behavioral response to nicotine (GO:0035095)	2.99453008
59	rRNA methylation (GO:0031167)	2.96123578
60	estrogen biosynthetic process (GO:0006703)	2.94980719
61	pyrimidine nucleobase catabolic process (GO:0006208)	2.94562691
62	cell differentiation in spinal cord (GO:0021515)	2.89580640
63	neuronal action potential (GO:0019228)	2.87389980
64	regulation of response to osmotic stress (GO:0047484)	2.84789938
65	heme transport (GO:0015886)	2.84649321
66	L-serine metabolic process (GO:0006563)	2.79157406
67	negative regulation of cell aging (GO:0090344)	2.78633914
68	transepithelial transport (GO:0070633)	2.77162052
69	carnitine shuttle (GO:0006853)	2.76611913
70	photoreceptor cell development (GO:0042461)	2.76207090
71	negative regulation of TOR signaling (GO:0032007)	2.72551859
72	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.72276130
73	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.72276130
74	regulation of translation, ncRNA-mediated (GO:0045974)	2.72276130
75	urogenital system development (GO:0001655)	2.69595061
76	dendrite morphogenesis (GO:0048813)	2.68152797
77	indole-containing compound metabolic process (GO:0042430)	2.66862593
78	regulation of cilium movement (GO:0003352)	2.66355394
79	nonmotile primary cilium assembly (GO:0035058)	2.63701035
80	retinal ganglion cell axon guidance (GO:0031290)	2.63022641
81	regulation of Rac GTPase activity (GO:0032314)	2.60514666
82	regulation of neuron migration (GO:2001222)	2.60047446
83	fatty acid transmembrane transport (GO:1902001)	2.59747220
84	glyoxylate metabolic process (GO:0046487)	2.59548267
85	platelet dense granule organization (GO:0060155)	2.56784687
86	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.55517062
87	response to pheromone (GO:0019236)	2.55237560
88	serine family amino acid catabolic process (GO:0009071)	2.55042166
89	protein localization to synapse (GO:0035418)	2.54018716
90	regulation of mitochondrial fission (GO:0090140)	2.53896470
91	kidney morphogenesis (GO:0060993)	2.53808644
92	DNA alkylation (GO:0006305)	2.53107869
93	DNA methylation (GO:0006306)	2.53107869
94	protein polyglutamylation (GO:0018095)	2.53060864
95	cerebral cortex radially oriented cell migration (GO:0021799)	2.52372287
96	positive regulation of mitochondrial membrane permeability (GO:0035794)	2.51747321
97	positive regulation of guanylate cyclase activity (GO:0031284)	2.51112036
98	inner ear receptor stereocilium organization (GO:0060122)	2.49816996
99	eye photoreceptor cell development (GO:0042462)	2.48271874
100	reciprocal DNA recombination (GO:0035825)	2.47739759

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SALL1_21062744_ChIP-ChIP_HESCs_Human	5.91362751
2	IGF1R_20145208_ChIP-Seq_DFB_Human	3.55220663
3	ZNF274_21170338_ChIP-Seq_K562_Hela	2.98512778
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.65750110
5	EWS_26573619_Chip-Seq_HEK293_Human	2.57867873
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.41371396
7	VDR_22108803_ChIP-Seq_LS180_Human	2.30914851
8	FUS_26573619_Chip-Seq_HEK293_Human	2.29216990
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.13455777
10	TAF15_26573619_Chip-Seq_HEK293_Human	2.06490515
11	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.99588311
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.98964797
13	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.90545096
14	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.90035762
15	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.88856841
16	EZH2_22144423_ChIP-Seq_EOC_Human	1.88258237
17	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.83372703
18	TP53_22573176_ChIP-Seq_HFKS_Human	1.83284549
19	* MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.80913402
20	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.79263796
21	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.79263796
22	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.77203712
23	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.75835662
24	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.71895750
25	REST_21632747_ChIP-Seq_MESCs_Mouse	1.71594809
26	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.67144107
27	P300_19829295_ChIP-Seq_ESCs_Human	1.63156579
28	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.58311173
29	CBP_20019798_ChIP-Seq_JUKART_Human	1.58311173
30	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.54045241
31	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.53897208
32	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.53304660
33	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.52867943
34	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.52414180
35	SMAD4_21799915_ChIP-Seq_A2780_Human	1.48968319
36	ER_23166858_ChIP-Seq_MCF-7_Human	1.48720268
37	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.46444196
38	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.45159594
39	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.45087811
40	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.42560633
41	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.41155704
42	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.39042650
43	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.38411939
44	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.34991459
45	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.32536349
46	NCOR_22424771_ChIP-Seq_293T_Human	1.32261469
47	STAT3_23295773_ChIP-Seq_U87_Human	1.31022274
48	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.28751194
49	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.28642291
50	ERA_21632823_ChIP-Seq_H3396_Human	1.27030848
51	HOXB7_26014856_ChIP-Seq_BT474_Human	1.23715580
52	RUNX2_22187159_ChIP-Seq_PCA_Human	1.23702199
53	RNF2_27304074_Chip-Seq_NSC_Mouse	1.21226948
54	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.19209389
55	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.18251298
56	OCT4_20526341_ChIP-Seq_ESCs_Human	1.16822282
57	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.16490531
58	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.15684518
59	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.15181671
60	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.14084890
61	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.14054074
62	AR_25329375_ChIP-Seq_VCAP_Human	1.12584535
63	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.11991478
64	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.11647017
65	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.10358730
66	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.10084324
67	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.09717419
68	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.09601453
69	E2F1_17053090_ChIP-ChIP_MCF-7_Human	1.07936379
70	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.07538066
71	BCAT_22108803_ChIP-Seq_LS180_Human	1.06926149
72	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.06049370
73	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.06041694
74	AR_21572438_ChIP-Seq_LNCaP_Human	1.05687185
75	HTT_18923047_ChIP-ChIP_STHdh_Human	1.04739884
76	TCF4_23295773_ChIP-Seq_U87_Human	1.04431910
77	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.02700545
78	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.00626204
79	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.00372981
80	E2F1_20622854_ChIP-Seq_HELA_Human	0.99648108
81	WDR5_24793694_ChIP-Seq_LNCAP_Human	0.99318374
82	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.97175667
83	CIITA_25753668_ChIP-Seq_RAJI_Human	0.95902590
84	MYC_19829295_ChIP-Seq_ESCs_Human	0.95642986
85	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.95090828
86	NANOG_20526341_ChIP-Seq_ESCs_Human	0.94085825
87	AR_19668381_ChIP-Seq_PC3_Human	0.93834232
88	P53_21459846_ChIP-Seq_SAOS-2_Human	0.93444151
89	RNF2_27304074_Chip-Seq_ESCs_Mouse	0.92670617
90	CTCF_27219007_Chip-Seq_Bcells_Human	0.91180533
91	MYC_18940864_ChIP-ChIP_HL60_Human	0.90768135
92	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.90760124
93	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.90760124
94	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	0.89296276
95	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	0.89208172
96	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.86764767
97	TBL1_22424771_ChIP-Seq_293T_Human	0.86144510
98	PKCTHETA_26484144_Chip-Seq_BREAST_Human	0.84351026
99	TP53_16413492_ChIP-PET_HCT116_Human	0.83925311
100	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.83637013

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005423_abnormal_somatic_nervous	5.57140000
2	MP0003880_abnormal_central_pattern	4.76705871
3	MP0001986_abnormal_taste_sensitivity	4.02162121
4	MP0005174_abnormal_tail_pigmentation	3.09841901
5	MP0002735_abnormal_chemical_nociception	3.02858162
6	MP0005171_absent_coat_pigmentation	2.84710972
7	MP0005551_abnormal_eye_electrophysiolog	2.62611931
8	MP0003136_yellow_coat_color	2.51194098
9	MP0000015_abnormal_ear_pigmentation	2.35570493
10	MP0004133_heterotaxia	2.27179930
11	MP0000569_abnormal_digit_pigmentation	2.22507997
12	MP0003195_calcinosis	2.08319201
13	MP0006292_abnormal_olfactory_placode	1.94197870
14	MP0001968_abnormal_touch/_nociception	1.89813117
15	MP0004885_abnormal_endolymph	1.68268435
16	MP0003011_delayed_dark_adaptation	1.65146688
17	MP0006276_abnormal_autonomic_nervous	1.65114317
18	MP0005253_abnormal_eye_physiology	1.57770815
19	MP0005377_hearing/vestibular/ear_phenot	1.52709066
20	MP0003878_abnormal_ear_physiology	1.52709066
21	MP0002102_abnormal_ear_morphology	1.48613396
22	MP0009278_abnormal_bone_marrow	1.47913355
23	MP0003890_abnormal_embryonic-extraembry	1.46801049
24	MP0002736_abnormal_nociception_after	1.43112683
25	MP0004742_abnormal_vestibular_system	1.42149786
26	MP0002734_abnormal_mechanical_nocicepti	1.41616582
27	MP0001502_abnormal_circadian_rhythm	1.41553756
28	MP0006072_abnormal_retinal_apoptosis	1.41345570
29	MP0002638_abnormal_pupillary_reflex	1.36811082
30	MP0005083_abnormal_biliary_tract	1.35927554
31	MP0005646_abnormal_pituitary_gland	1.31030125
32	MP0008875_abnormal_xenobiotic_pharmacok	1.29569386
33	MP0000778_abnormal_nervous_system	1.29119151
34	MP0002751_abnormal_autonomic_nervous	1.25640778
35	MP0001486_abnormal_startle_reflex	1.24857997
36	MP0009745_abnormal_behavioral_response	1.22562627
37	MP0000372_irregular_coat_pigmentation	1.20498552
38	MP0004130_abnormal_muscle_cell	1.19619672
39	MP0008775_abnormal_heart_ventricle	1.17973590
40	MP0001970_abnormal_pain_threshold	1.17400720
41	MP0005084_abnormal_gallbladder_morpholo	1.16799949
42	MP0001485_abnormal_pinna_reflex	1.15965207
43	MP0002837_dystrophic_cardiac_calcinosis	1.13702026
44	MP0002234_abnormal_pharynx_morphology	1.13228098
45	MP0000631_abnormal_neuroendocrine_gland	1.12412350
46	MP0001324_abnormal_eye_pigmentation	1.12159458
47	MP0000427_abnormal_hair_cycle	1.11597125
48	MP0003787_abnormal_imprinting	1.11021036
49	MP0002572_abnormal_emotion/affect_behav	1.09417707
50	MP0005386_behavior/neurological_phenoty	1.07981994
51	MP0004924_abnormal_behavior	1.07981994
52	MP0002160_abnormal_reproductive_system	1.07877988
53	MP0000013_abnormal_adipose_tissue	1.06098881
54	MP0000538_abnormal_urinary_bladder	1.06037270
55	MP0002822_catalepsy	1.05116485
56	MP0002067_abnormal_sensory_capabilities	1.04906099
57	MP0000383_abnormal_hair_follicle	1.03393302
58	MP0002909_abnormal_adrenal_gland	1.02166414
59	MP0008995_early_reproductive_senescence	1.01435602
60	MP0002557_abnormal_social/conspecific_i	0.99426395
61	MP0003635_abnormal_synaptic_transmissio	0.98897988
62	MP0002272_abnormal_nervous_system	0.97601333
63	MP0008872_abnormal_physiological_respon	0.95886828
64	MP0004859_abnormal_synaptic_plasticity	0.94633131
65	MP0001963_abnormal_hearing_physiology	0.94489048
66	MP0004084_abnormal_cardiac_muscle	0.94195836
67	MP0008789_abnormal_olfactory_epithelium	0.92665850
68	MP0005195_abnormal_posterior_eye	0.91697517
69	MP0002752_abnormal_somatic_nervous	0.89067940
70	MP0002282_abnormal_trachea_morphology	0.88843643
71	MP0004381_abnormal_hair_follicle	0.88705164
72	MP0003283_abnormal_digestive_organ	0.88613250
73	MP0000026_abnormal_inner_ear	0.88299615
74	MP0005220_abnormal_exocrine_pancreas	0.88229970
75	MP0001756_abnormal_urination	0.87901117
76	MP0002210_abnormal_sex_determination	0.87683946
77	MP0003698_abnormal_male_reproductive	0.86474717
78	MP0002064_seizures	0.86281050
79	MP0005332_abnormal_amino_acid	0.84244975
80	MP0002882_abnormal_neuron_morphology	0.84047095
81	MP0002928_abnormal_bile_duct	0.83900744
82	MP0002063_abnormal_learning/memory/cond	0.83493334
83	MP0002095_abnormal_skin_pigmentation	0.83185117
84	MP0004147_increased_porphyrin_level	0.81501931
85	MP0000516_abnormal_urinary_system	0.81213012
86	MP0005367_renal/urinary_system_phenotyp	0.81213012
87	MP0003755_abnormal_palate_morphology	0.79824087
88	MP0001919_abnormal_reproductive_system	0.79203001
89	MP0002069_abnormal_eating/drinking_beha	0.77618394
90	MP0000647_abnormal_sebaceous_gland	0.75440046
91	MP0003943_abnormal_hepatobiliary_system	0.75288021
92	MP0000003_abnormal_adipose_tissue	0.74714168
93	MP0006035_abnormal_mitochondrial_morpho	0.73326308
94	MP0003119_abnormal_digestive_system	0.72693238
95	MP0005410_abnormal_fertilization	0.71942553
96	MP0001188_hyperpigmentation	0.71045443
97	MP0004142_abnormal_muscle_tone	0.70620159
98	MP0008961_abnormal_basal_metabolism	0.69347163
99	MP0008877_abnormal_DNA_methylation	0.67632186
100	MP0000049_abnormal_middle_ear	0.67192059

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	5.41798583
2	Fetal akinesia sequence (HP:0001989)	5.39208127
3	Aplasia of the musculature (HP:0100854)	5.13194600
4	Carpal bone hypoplasia (HP:0001498)	5.04895244
5	Aplasia/Hypoplasia involving the musculature (HP:0001460)	4.27729734
6	Hip contracture (HP:0003273)	3.79054778
7	Congenital stationary night blindness (HP:0007642)	3.76422441
8	Spinal muscular atrophy (HP:0007269)	3.71561721
9	Hip dysplasia (HP:0001385)	3.71041833
10	Broad-based gait (HP:0002136)	3.61300616
11	Stridor (HP:0010307)	3.40677544
12	Hand muscle atrophy (HP:0009130)	3.30358921
13	Attenuation of retinal blood vessels (HP:0007843)	3.29713164
14	Disproportionate short-trunk short stature (HP:0003521)	3.24123710
15	Diaphragmatic weakness (HP:0009113)	3.23534664
16	Abnormality of midbrain morphology (HP:0002418)	3.21177581
17	Molar tooth sign on MRI (HP:0002419)	3.21177581
18	Hypoplasia of the odontoid process (HP:0003311)	2.98572452
19	Patellar aplasia (HP:0006443)	2.94038547
20	Abnormality of the middle phalanges of the toes (HP:0010183)	2.93826883
21	Chronic hepatic failure (HP:0100626)	2.92227410
22	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.85867664
23	Barrel-shaped chest (HP:0001552)	2.84511565
24	Small hand (HP:0200055)	2.82071131
25	Aplasia/Hypoplasia of the patella (HP:0006498)	2.78259158
26	True hermaphroditism (HP:0010459)	2.75120359
27	Muscle fiber splitting (HP:0003555)	2.73714312
28	Hyperventilation (HP:0002883)	2.68693804
29	Abnormality of the intervertebral disk (HP:0005108)	2.65842528
30	Short tibia (HP:0005736)	2.63828481
31	Pancreatic fibrosis (HP:0100732)	2.59978574
32	Rib fusion (HP:0000902)	2.59951132
33	Nephronophthisis (HP:0000090)	2.58331592
34	Pancreatic cysts (HP:0001737)	2.57052339
35	Abnormality of the renal medulla (HP:0100957)	2.48341653
36	Limited hip movement (HP:0008800)	2.47128272
37	Rectal fistula (HP:0100590)	2.46981123
38	Rectovaginal fistula (HP:0000143)	2.46981123
39	Abnormal drinking behavior (HP:0030082)	2.46625144
40	Polydipsia (HP:0001959)	2.46625144
41	Metaphyseal irregularity (HP:0003025)	2.40452043
42	Facial hemangioma (HP:0000329)	2.36095241
43	Distal upper limb amyotrophy (HP:0007149)	2.35057261
44	Upper limb amyotrophy (HP:0009129)	2.35057261
45	Down-sloping shoulders (HP:0200021)	2.34224482
46	Decreased central vision (HP:0007663)	2.29439056
47	Abnormality of the odontoid process (HP:0003310)	2.26033953
48	Limb-girdle muscle atrophy (HP:0003797)	2.25896440
49	Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)	2.21797855
50	Bony spicule pigmentary retinopathy (HP:0007737)	2.21074304
51	Abnormality of the vocal cords (HP:0008777)	2.17825704
52	Chorioretinal atrophy (HP:0000533)	2.14649904
53	Intestinal fistula (HP:0100819)	2.13468049
54	Gaze-evoked nystagmus (HP:0000640)	2.08844621
55	Polyuria (HP:0000103)	2.08099164
56	Type II lissencephaly (HP:0007260)	2.07998504
57	Abnormality of the renal cortex (HP:0011035)	2.07555500
58	Obstructive sleep apnea (HP:0002870)	2.07061416
59	Nonprogressive disorder (HP:0003680)	2.05315436
60	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.04133568
61	Protruding tongue (HP:0010808)	2.03165332
62	Medial flaring of the eyebrow (HP:0010747)	2.03022889
63	Exotropia (HP:0000577)	2.02717945
64	Sleep apnea (HP:0010535)	2.02262756
65	Hypoplasia of the pons (HP:0012110)	2.02147525
66	Anencephaly (HP:0002323)	2.01700993
67	Methylmalonic acidemia (HP:0002912)	1.99441264
68	Absent speech (HP:0001344)	1.97380848
69	Knee flexion contracture (HP:0006380)	1.97267448
70	Lissencephaly (HP:0001339)	1.96443051
71	Annular pancreas (HP:0001734)	1.96066120
72	Supernumerary spleens (HP:0009799)	1.93354107
73	Dyschromatopsia (HP:0007641)	1.90098038
74	Lower limb asymmetry (HP:0100559)	1.89203768
75	Abnormality of the pons (HP:0007361)	1.88654348
76	Drooling (HP:0002307)	1.86883391
77	Tubular atrophy (HP:0000092)	1.86678091
78	Vaginal fistula (HP:0004320)	1.86450511
79	Gowers sign (HP:0003391)	1.83907975
80	Hypophosphatemic rickets (HP:0004912)	1.82048097
81	Hypoplastic nipples (HP:0002557)	1.81307960
82	Progressive cerebellar ataxia (HP:0002073)	1.77066835
83	Tented upper lip vermilion (HP:0010804)	1.76928523
84	Epiphyseal dysplasia (HP:0002656)	1.75863202
85	Hypothermia (HP:0002045)	1.73739515
86	Preaxial hand polydactyly (HP:0001177)	1.70606075
87	Congenital sensorineural hearing impairment (HP:0008527)	1.69697535
88	Hypoalbuminemia (HP:0003073)	1.68158716
89	Abnormal albumin level (HP:0012116)	1.68158716
90	Hypomagnesemia (HP:0002917)	1.67598343
91	Pendular nystagmus (HP:0012043)	1.66617354
92	Long clavicles (HP:0000890)	1.66272212
93	Ketosis (HP:0001946)	1.66179143
94	Ketoacidosis (HP:0001993)	1.65840076
95	Excessive salivation (HP:0003781)	1.65205684
96	Choroideremia (HP:0001139)	1.64706215
97	Intellectual disability, progressive (HP:0006887)	1.64601367
98	Congenital hepatic fibrosis (HP:0002612)	1.63866727
99	Renal cortical cysts (HP:0000803)	1.62341180
100	Progressive inability to walk (HP:0002505)	1.62264271

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.07695615
2	CASK	3.35919181
3	MAPK15	3.25059210
4	MARK1	3.23192102
5	ZAK	2.58658759
6	BMPR1B	2.55683205
7	TLK1	2.51052629
8	STK38L	2.29302598
9	ADRBK2	2.28412118
10	TRIM28	2.26565855
11	INSRR	2.21817063
12	MAP4K2	2.09931556
13	EPHA4	2.01929268
14	PINK1	1.96492209
15	WNK4	1.91070785
16	WNK3	1.86576390
17	SIK2	1.83826006
18	SIK3	1.82234084
19	EPHA3	1.80565077
20	MAPK13	1.69072576
21	NUAK1	1.60837390
22	IRAK1	1.58163657
23	FGFR2	1.53489559
24	MUSK	1.45755217
25	MAP2K7	1.45585657
26	MAP3K4	1.43863792
27	TNIK	1.37077349
28	STK16	1.36029287
29	ACVR1B	1.30794121
30	DYRK2	1.28670619
31	BCR	1.26358638
32	FER	1.24836787
33	MAP3K7	1.24760598
34	STK39	1.22934541
35	STK38	1.22434815
36	VRK1	1.19413866
37	BLK	1.19330365
38	IRAK2	1.18022873
39	STK11	1.18014122
40	EPHB1	1.16061189
41	OXSR1	1.13356957
42	BRSK2	1.08187311
43	STK3	1.05557793
44	TNK2	1.04908190
45	ADRBK1	1.02405167
46	PRKAA2	0.94780828
47	PKN1	0.94564808
48	CLK1	0.92938703
49	PRKAA1	0.92727879
50	PAK3	0.90949708
51	PRKCE	0.85452101
52	GRK1	0.79643755
53	EIF2AK3	0.78912971
54	MKNK2	0.78722373
55	CAMKK2	0.77961757
56	TIE1	0.74978261
57	NEK2	0.72129069
58	RPS6KA4	0.71542986
59	MET	0.65945073
60	EPHB2	0.64460809
61	STK4	0.64240648
62	WEE1	0.63994913
63	PLK4	0.58083837
64	TGFBR1	0.57690991
65	LATS1	0.54523056
66	CSNK1G2	0.50397172
67	PRKD2	0.48990167
68	DYRK1B	0.47347739
69	RPS6KA5	0.47296532
70	CSNK1D	0.46702041
71	DAPK2	0.46151717
72	NLK	0.45553412
73	CDK1	0.44117250
74	MAPK8	0.43557015
75	PRKD3	0.43006351
76	PLK2	0.42708701
77	MKNK1	0.41480529
78	PRKACA	0.40502416
79	PRKCG	0.39482432
80	CSNK1G1	0.39435306
81	CAMK1	0.39164108
82	CSNK1G3	0.38986908
83	GSK3B	0.38395963
84	CDK5	0.38196679
85	ROCK1	0.38058509
86	BRD4	0.36734075
87	MAP2K4	0.36182371
88	CSNK1A1L	0.34457965
89	PHKG1	0.33177222
90	PHKG2	0.33177222
91	MAPK14	0.31216397
92	RPS6KB1	0.30536885
93	IKBKB	0.30359002
94	PRKCH	0.30040418
95	CCNB1	0.29210138
96	PTK2B	0.29070943
97	CDK3	0.28956736
98	CHEK2	0.28468129
99	DYRK3	0.28244737
100	ERBB2	0.27950458

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.61907332
2	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	3.49771804
3	Phototransduction_Homo sapiens_hsa04744	3.13819226
4	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.88840572
5	Circadian rhythm_Homo sapiens_hsa04710	2.76635088
6	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.65277326
7	Regulation of autophagy_Homo sapiens_hsa04140	2.60505823
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.46064826
9	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.16725736
10	Nicotine addiction_Homo sapiens_hsa05033	2.11132808
11	Nitrogen metabolism_Homo sapiens_hsa00910	2.06024409
12	Basal transcription factors_Homo sapiens_hsa03022	1.86803373
13	Fanconi anemia pathway_Homo sapiens_hsa03460	1.85569101
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.82208870
15	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.69650541
16	Tryptophan metabolism_Homo sapiens_hsa00380	1.69175197
17	RNA polymerase_Homo sapiens_hsa03020	1.68593954
18	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.67114197
19	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.66840568
20	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.64822673
21	Taste transduction_Homo sapiens_hsa04742	1.48723806
22	ABC transporters_Homo sapiens_hsa02010	1.45438053
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.43514166
24	Butanoate metabolism_Homo sapiens_hsa00650	1.42859964
25	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.42223737
26	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.39398732
27	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.38860398
28	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.33777381
29	RNA degradation_Homo sapiens_hsa03018	1.30353286
30	Lysine degradation_Homo sapiens_hsa00310	1.29399653
31	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.26257549
32	Ether lipid metabolism_Homo sapiens_hsa00565	1.21280400
33	Propanoate metabolism_Homo sapiens_hsa00640	1.20050519
34	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.16404382
35	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.09157766
36	Sulfur relay system_Homo sapiens_hsa04122	1.06412772
37	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.06025248
38	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.03795410
39	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.00013804
40	Peroxisome_Homo sapiens_hsa04146	0.99474095
41	Morphine addiction_Homo sapiens_hsa05032	0.96287274
42	Cocaine addiction_Homo sapiens_hsa05030	0.93394100
43	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.92544689
44	Mineral absorption_Homo sapiens_hsa04978	0.92253903
45	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.91607136
46	Selenocompound metabolism_Homo sapiens_hsa00450	0.91505206
47	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.90856301
48	Glutamatergic synapse_Homo sapiens_hsa04724	0.88925124
49	Olfactory transduction_Homo sapiens_hsa04740	0.87039904
50	GABAergic synapse_Homo sapiens_hsa04727	0.86112782
51	Retinol metabolism_Homo sapiens_hsa00830	0.85492170
52	Sphingolipid metabolism_Homo sapiens_hsa00600	0.84795441
53	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.84029463
54	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.83867245
55	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.83695611
56	Chemical carcinogenesis_Homo sapiens_hsa05204	0.81158442
57	Non-homologous end-joining_Homo sapiens_hsa03450	0.79658987
58	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.77639516
59	Calcium signaling pathway_Homo sapiens_hsa04020	0.77510983
60	Circadian entrainment_Homo sapiens_hsa04713	0.74078303
61	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.71156160
62	Insulin secretion_Homo sapiens_hsa04911	0.70355820
63	beta-Alanine metabolism_Homo sapiens_hsa00410	0.70205241
64	Glycerolipid metabolism_Homo sapiens_hsa00561	0.69496546
65	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.68277652
66	Axon guidance_Homo sapiens_hsa04360	0.67399853
67	Basal cell carcinoma_Homo sapiens_hsa05217	0.67256336
68	Homologous recombination_Homo sapiens_hsa03440	0.66324410
69	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.66180865
70	Hippo signaling pathway_Homo sapiens_hsa04390	0.66007324
71	Base excision repair_Homo sapiens_hsa03410	0.65551885
72	Metabolic pathways_Homo sapiens_hsa01100	0.60871700
73	Caffeine metabolism_Homo sapiens_hsa00232	0.60391197
74	Salivary secretion_Homo sapiens_hsa04970	0.59335290
75	Sulfur metabolism_Homo sapiens_hsa00920	0.58660807
76	Steroid biosynthesis_Homo sapiens_hsa00100	0.58068968
77	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.55334279
78	Arginine and proline metabolism_Homo sapiens_hsa00330	0.53343797
79	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.51301476
80	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.51283472
81	mTOR signaling pathway_Homo sapiens_hsa04150	0.51144897
82	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.50216990
83	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.49328995
84	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.46980649
85	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.46063904
86	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.43701257
87	One carbon pool by folate_Homo sapiens_hsa00670	0.41703831
88	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.41560365
89	FoxO signaling pathway_Homo sapiens_hsa04068	0.39779982
90	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.38033085
91	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.36264812
92	Serotonergic synapse_Homo sapiens_hsa04726	0.34434072
93	Purine metabolism_Homo sapiens_hsa00230	0.33696603
94	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.33309553
95	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.32947171
96	Fatty acid degradation_Homo sapiens_hsa00071	0.32745205
97	Glucagon signaling pathway_Homo sapiens_hsa04922	0.31857827
98	Insulin resistance_Homo sapiens_hsa04931	0.31806139
99	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.28958266
100	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.28903100

C1ORF145

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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