ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	piRNA metabolic process (GO:0034587)	4.81909893
2	behavioral response to nicotine (GO:0035095)	4.81061765
3	DNA deamination (GO:0045006)	4.47606469
4	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.24254449
5	platelet dense granule organization (GO:0060155)	4.15893341
6	regulation of meiosis I (GO:0060631)	3.87952219
7	retinal cone cell development (GO:0046549)	3.86361678
8	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.81023527
9	DNA methylation involved in gamete generation (GO:0043046)	3.78608243
10	epithelial cilium movement (GO:0003351)	3.77350274
11	response to pheromone (GO:0019236)	3.74680665
12	multicellular organism reproduction (GO:0032504)	3.74293179
13	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.57616206
14	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.57123686
15	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.55217642
16	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.55217642
17	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.50898631
18	L-fucose catabolic process (GO:0042355)	3.28215033
19	fucose catabolic process (GO:0019317)	3.28215033
20	L-fucose metabolic process (GO:0042354)	3.28215033
21	indolalkylamine metabolic process (GO:0006586)	3.27546275
22	chaperone-mediated protein transport (GO:0072321)	3.18036110
23	detection of light stimulus involved in visual perception (GO:0050908)	3.15182062
24	detection of light stimulus involved in sensory perception (GO:0050962)	3.15182062
25	protein complex biogenesis (GO:0070271)	3.09869714
26	nonmotile primary cilium assembly (GO:0035058)	3.09735520
27	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.08163484
28	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.08163484
29	NADH dehydrogenase complex assembly (GO:0010257)	3.08163484
30	axoneme assembly (GO:0035082)	3.07614462
31	cilium movement (GO:0003341)	3.01786090
32	histone H2A acetylation (GO:0043968)	3.01139708
33	tryptophan catabolic process (GO:0006569)	3.01133933
34	indole-containing compound catabolic process (GO:0042436)	3.01133933
35	indolalkylamine catabolic process (GO:0046218)	3.01133933
36	protein polyglutamylation (GO:0018095)	2.99783990
37	water-soluble vitamin biosynthetic process (GO:0042364)	2.99374301
38	protein prenylation (GO:0018342)	2.99265476
39	prenylation (GO:0097354)	2.99265476
40	cornea development in camera-type eye (GO:0061303)	2.95804931
41	reproduction (GO:0000003)	2.95675935
42	cilium morphogenesis (GO:0060271)	2.94383359
43	tachykinin receptor signaling pathway (GO:0007217)	2.93982017
44	centriole replication (GO:0007099)	2.91965259
45	mitochondrial respiratory chain complex assembly (GO:0033108)	2.87560722
46	respiratory chain complex IV assembly (GO:0008535)	2.87214443
47	amine catabolic process (GO:0009310)	2.84749339
48	cellular biogenic amine catabolic process (GO:0042402)	2.84749339
49	regulation of cilium movement (GO:0003352)	2.84253167
50	DNA integration (GO:0015074)	2.83429637
51	intraciliary transport (GO:0042073)	2.82935753
52	mannosylation (GO:0097502)	2.82872897
53	photoreceptor cell maintenance (GO:0045494)	2.82771177
54	protein deneddylation (GO:0000338)	2.82051805
55	behavioral response to ethanol (GO:0048149)	2.79939489
56	photoreceptor cell development (GO:0042461)	2.77672303
57	positive regulation of fatty acid transport (GO:2000193)	2.76980645
58	DNA double-strand break processing (GO:0000729)	2.75714495
59	auditory receptor cell stereocilium organization (GO:0060088)	2.75554625
60	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.75520224
61	ubiquinone biosynthetic process (GO:0006744)	2.74839654
62	meiotic cell cycle (GO:0051321)	2.74636277
63	protein K11-linked deubiquitination (GO:0035871)	2.73171707
64	neural tube formation (GO:0001841)	2.72651363
65	limb bud formation (GO:0060174)	2.71562627
66	male meiosis (GO:0007140)	2.69953425
67	protein K6-linked ubiquitination (GO:0085020)	2.69802713
68	cilium organization (GO:0044782)	2.68830330
69	pyrimidine nucleobase catabolic process (GO:0006208)	2.67073858
70	cytochrome complex assembly (GO:0017004)	2.65389139
71	ATP synthesis coupled proton transport (GO:0015986)	2.64207999
72	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.64207999
73	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.63732188
74	tryptophan metabolic process (GO:0006568)	2.63392519
75	somite rostral/caudal axis specification (GO:0032525)	2.63004119
76	protein-cofactor linkage (GO:0018065)	2.62533510
77	replication fork processing (GO:0031297)	2.62388890
78	protein neddylation (GO:0045116)	2.62226689
79	cilium or flagellum-dependent cell motility (GO:0001539)	2.59837930
80	inner ear receptor stereocilium organization (GO:0060122)	2.59042630
81	cilium assembly (GO:0042384)	2.58303725
82	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.58094879
83	gamma-aminobutyric acid transport (GO:0015812)	2.57556392
84	reciprocal DNA recombination (GO:0035825)	2.57325020
85	reciprocal meiotic recombination (GO:0007131)	2.57325020
86	cellular ketone body metabolic process (GO:0046950)	2.55252539
87	proteasome assembly (GO:0043248)	2.54653064
88	regulation of acrosome reaction (GO:0060046)	2.54448039
89	ubiquinone metabolic process (GO:0006743)	2.53622752
90	transmission of nerve impulse (GO:0019226)	2.52875851
91	eye photoreceptor cell development (GO:0042462)	2.50699265
92	positive regulation of icosanoid secretion (GO:0032305)	2.50633051
93	rhodopsin mediated signaling pathway (GO:0016056)	2.50167821
94	regulation of female gonad development (GO:2000194)	2.49600341
95	double-strand break repair via homologous recombination (GO:0000724)	2.48019863
96	cullin deneddylation (GO:0010388)	2.47971456
97	positive regulation of prostaglandin secretion (GO:0032308)	2.47442745
98	transepithelial transport (GO:0070633)	2.47326225
99	kynurenine metabolic process (GO:0070189)	2.47293431
100	recombinational repair (GO:0000725)	2.47206431

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.65790082
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.14940370
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.93469578
4	IGF1R_20145208_ChIP-Seq_DFB_Human	2.78505375
5	VDR_22108803_ChIP-Seq_LS180_Human	2.64647128
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.64026344
7	GBX2_23144817_ChIP-Seq_PC3_Human	2.59756621
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.49892130
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.44624227
10	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.43726765
11	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.40693379
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.24803321
13	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.20314890
14	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.19949765
15	EWS_26573619_Chip-Seq_HEK293_Human	2.17130773
16	FUS_26573619_Chip-Seq_HEK293_Human	2.12805767
17	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.12458490
18	P300_19829295_ChIP-Seq_ESCs_Human	2.06919951
19	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.97616696
20	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.96497188
21	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.93912438
22	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.89539389
23	TAF15_26573619_Chip-Seq_HEK293_Human	1.89264040
24	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.86792816
25	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.78957914
26	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.78737900
27	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.77973970
28	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.77362774
29	ELK1_19687146_ChIP-ChIP_HELA_Human	1.73502695
30	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.70314412
31	ER_23166858_ChIP-Seq_MCF-7_Human	1.65411230
32	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.64026328
33	CBP_20019798_ChIP-Seq_JUKART_Human	1.64026328
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.62707745
35	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.61130384
36	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.59752604
37	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.59445624
38	IRF1_19129219_ChIP-ChIP_H3396_Human	1.57976452
39	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.56612676
40	BCAT_22108803_ChIP-Seq_LS180_Human	1.53325501
41	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.51604146
42	MYC_18940864_ChIP-ChIP_HL60_Human	1.49542415
43	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.49044992
44	AR_25329375_ChIP-Seq_VCAP_Human	1.45405095
45	TP53_22573176_ChIP-Seq_HFKS_Human	1.43340512
46	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.40890174
47	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.40351355
48	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.37156448
49	RNF2_27304074_Chip-Seq_NSC_Mouse	1.36499233
50	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.36217388
51	SMAD4_21799915_ChIP-Seq_A2780_Human	1.36190093
52	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.36075790
53	STAT3_23295773_ChIP-Seq_U87_Human	1.35153108
54	SOX2_19829295_ChIP-Seq_ESCs_Human	1.34650809
55	NANOG_19829295_ChIP-Seq_ESCs_Human	1.34650809
56	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.32788640
57	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.32788640
58	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.31675326
59	TCF4_22108803_ChIP-Seq_LS180_Human	1.31275131
60	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.29992124
61	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.27739139
62	TCF4_23295773_ChIP-Seq_U87_Human	1.27678081
63	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.26765897
64	VDR_23849224_ChIP-Seq_CD4+_Human	1.26267156
65	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.24689723
66	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.24110865
67	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.23995052
68	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.23625911
69	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.23625911
70	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.19730876
71	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.19718796
72	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.18084446
73	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.17164350
74	NCOR_22424771_ChIP-Seq_293T_Human	1.16167296
75	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.15504311
76	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.14588376
77	RUNX2_22187159_ChIP-Seq_PCA_Human	1.14051796
78	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.13279438
79	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.09777994
80	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.09725363
81	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.09295210
82	HTT_18923047_ChIP-ChIP_STHdh_Human	1.09222462
83	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.09108321
84	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.08204276
85	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.07124197
86	AR_20517297_ChIP-Seq_VCAP_Human	1.07116450
87	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.06760750
88	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.05756601
89	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.05229071
90	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.04909595
91	CDX2_22108803_ChIP-Seq_LS180_Human	1.03976377
92	HOXB7_26014856_ChIP-Seq_BT474_Human	1.03515751
93	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.01255205
94	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.00277864
95	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.98776680
96	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.97808941
97	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.97660361
98	AR_21572438_ChIP-Seq_LNCaP_Human	0.95464532
99	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.94097219
100	FOXP3_21729870_ChIP-Seq_TREG_Human	0.93787638

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.56895298
2	MP0002638_abnormal_pupillary_reflex	3.49383894
3	MP0003718_maternal_effect	2.59631027
4	MP0006292_abnormal_olfactory_placode	2.57888170
5	MP0000372_irregular_coat_pigmentation	2.54142539
6	MP0002102_abnormal_ear_morphology	2.50041113
7	MP0005551_abnormal_eye_electrophysiolog	2.36672923
8	MP0001986_abnormal_taste_sensitivity	2.33227990
9	MP0006072_abnormal_retinal_apoptosis	2.31642454
10	MP0003195_calcinosis	2.12790649
11	MP0008789_abnormal_olfactory_epithelium	2.11743407
12	MP0002234_abnormal_pharynx_morphology	1.94732470
13	MP0005253_abnormal_eye_physiology	1.94478046
14	MP0000427_abnormal_hair_cycle	1.83441726
15	MP0002653_abnormal_ependyma_morphology	1.80769614
16	MP0003880_abnormal_central_pattern	1.76610544
17	MP0000569_abnormal_digit_pigmentation	1.75995033
18	MP0001984_abnormal_olfaction	1.72811071
19	MP0008875_abnormal_xenobiotic_pharmacok	1.72764414
20	MP0001485_abnormal_pinna_reflex	1.71114948
21	MP0002138_abnormal_hepatobiliary_system	1.70668096
22	MP0002938_white_spotting	1.67500527
23	MP0002160_abnormal_reproductive_system	1.59806581
24	MP0005171_absent_coat_pigmentation	1.59349547
25	MP0003646_muscle_fatigue	1.58066949
26	MP0008995_early_reproductive_senescence	1.57832598
27	MP0006276_abnormal_autonomic_nervous	1.56326769
28	MP0001968_abnormal_touch/_nociception	1.55126736
29	MP0004142_abnormal_muscle_tone	1.54805319
30	MP0001529_abnormal_vocalization	1.54692961
31	MP0005646_abnormal_pituitary_gland	1.51661955
32	MP0009745_abnormal_behavioral_response	1.49064155
33	MP0005084_abnormal_gallbladder_morpholo	1.45043935
34	MP0008872_abnormal_physiological_respon	1.44865675
35	MP0000631_abnormal_neuroendocrine_gland	1.44316523
36	MP0003121_genomic_imprinting	1.43700978
37	MP0004133_heterotaxia	1.43297748
38	MP0002272_abnormal_nervous_system	1.40292846
39	MP0004043_abnormal_pH_regulation	1.40059427
40	MP0003787_abnormal_imprinting	1.38750383
41	MP0002751_abnormal_autonomic_nervous	1.38011917
42	MP0005394_taste/olfaction_phenotype	1.35592030
43	MP0005499_abnormal_olfactory_system	1.35592030
44	MP0001501_abnormal_sleep_pattern	1.34304968
45	MP0005389_reproductive_system_phenotype	1.33116644
46	MP0005645_abnormal_hypothalamus_physiol	1.32379886
47	MP0010386_abnormal_urinary_bladder	1.32221892
48	MP0005410_abnormal_fertilization	1.31403867
49	MP0002876_abnormal_thyroid_physiology	1.31151226
50	MP0005174_abnormal_tail_pigmentation	1.24907350
51	MP0001486_abnormal_startle_reflex	1.23187734
52	MP0001929_abnormal_gametogenesis	1.22871609
53	MP0009046_muscle_twitch	1.22601706
54	MP0002837_dystrophic_cardiac_calcinosis	1.20849687
55	MP0002736_abnormal_nociception_after	1.20823116
56	MP0002210_abnormal_sex_determination	1.19572374
57	MP0008058_abnormal_DNA_repair	1.16988467
58	MP0003136_yellow_coat_color	1.16608955
59	MP0001293_anophthalmia	1.16372653
60	MP0000566_synostosis	1.12893639
61	MP0002095_abnormal_skin_pigmentation	1.12880825
62	MP0005195_abnormal_posterior_eye	1.12165762
63	MP0003698_abnormal_male_reproductive	1.10770966
64	MP0005075_abnormal_melanosome_morpholog	1.10291424
65	MP0005377_hearing/vestibular/ear_phenot	1.10280644
66	MP0003878_abnormal_ear_physiology	1.10280644
67	MP0002282_abnormal_trachea_morphology	1.10046640
68	MP0000778_abnormal_nervous_system	1.09993392
69	MP0000049_abnormal_middle_ear	1.09235254
70	MP0004885_abnormal_endolymph	1.06354305
71	MP0003252_abnormal_bile_duct	1.05806089
72	MP0003567_abnormal_fetal_cardiomyocyte	1.05483085
73	MP0001324_abnormal_eye_pigmentation	1.03564994
74	MP0002572_abnormal_emotion/affect_behav	1.02207787
75	MP0003786_premature_aging	1.00809464
76	MP0000653_abnormal_sex_gland	1.00529897
77	MP0005395_other_phenotype	0.98802697
78	MP0002752_abnormal_somatic_nervous	0.98231202
79	MP0004147_increased_porphyrin_level	0.97231621
80	MP0000026_abnormal_inner_ear	0.95219944
81	MP0002557_abnormal_social/conspecific_i	0.95202816
82	MP0002928_abnormal_bile_duct	0.95067592
83	MP0002233_abnormal_nose_morphology	0.94670872
84	MP0001963_abnormal_hearing_physiology	0.94584023
85	MP0003011_delayed_dark_adaptation	0.94001531
86	MP0004742_abnormal_vestibular_system	0.91020844
87	MP0003283_abnormal_digestive_organ	0.90575265
88	MP0002064_seizures	0.89201692
89	MP0001119_abnormal_female_reproductive	0.88377844
90	MP0001145_abnormal_male_reproductive	0.87552717
91	MP0001905_abnormal_dopamine_level	0.87484916
92	MP0001919_abnormal_reproductive_system	0.86661018
93	MP0003950_abnormal_plasma_membrane	0.85729926
94	MP0005503_abnormal_tendon_morphology	0.84820832
95	MP0002277_abnormal_respiratory_mucosa	0.83676301
96	MP0005391_vision/eye_phenotype	0.82539511
97	MP0004924_abnormal_behavior	0.80668631
98	MP0005386_behavior/neurological_phenoty	0.80668631
99	MP0000383_abnormal_hair_follicle	0.80246988
100	MP0003937_abnormal_limbs/digits/tail_de	0.78849071

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.39745150
2	Pancreatic fibrosis (HP:0100732)	4.07166609
3	Abnormality of midbrain morphology (HP:0002418)	4.06955705
4	Molar tooth sign on MRI (HP:0002419)	4.06955705
5	True hermaphroditism (HP:0010459)	4.02899075
6	Congenital stationary night blindness (HP:0007642)	3.70669268
7	Nephronophthisis (HP:0000090)	3.66180893
8	Medial flaring of the eyebrow (HP:0010747)	3.45590056
9	Abnormality of the renal medulla (HP:0100957)	3.18567887
10	Gait imbalance (HP:0002141)	2.95893644
11	Congenital primary aphakia (HP:0007707)	2.90707757
12	Abnormal rod and cone electroretinograms (HP:0008323)	2.73130376
13	Abnormality of the renal cortex (HP:0011035)	2.69819249
14	Type II lissencephaly (HP:0007260)	2.66899546
15	Cystic liver disease (HP:0006706)	2.66356119
16	Attenuation of retinal blood vessels (HP:0007843)	2.63606665
17	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.63282785
18	Hypothermia (HP:0002045)	2.62085762
19	Nephrogenic diabetes insipidus (HP:0009806)	2.60189737
20	Hyperventilation (HP:0002883)	2.59788452
21	Methylmalonic acidemia (HP:0002912)	2.54751692
22	Acute necrotizing encephalopathy (HP:0006965)	2.50035778
23	Hyperglycinemia (HP:0002154)	2.49555126
24	Increased CSF lactate (HP:0002490)	2.48973278
25	Mitochondrial inheritance (HP:0001427)	2.40051507
26	Tubular atrophy (HP:0000092)	2.38334860
27	Genital tract atresia (HP:0001827)	2.37350762
28	Acute encephalopathy (HP:0006846)	2.35110211
29	Methylmalonic aciduria (HP:0012120)	2.32545516
30	Supernumerary spleens (HP:0009799)	2.31717330
31	Chronic hepatic failure (HP:0100626)	2.29789008
32	Progressive macrocephaly (HP:0004481)	2.29573359
33	Abnormal drinking behavior (HP:0030082)	2.29204230
34	Polydipsia (HP:0001959)	2.29204230
35	Male pseudohermaphroditism (HP:0000037)	2.25887844
36	Vaginal atresia (HP:0000148)	2.23863781
37	Decreased central vision (HP:0007663)	2.22994362
38	Pendular nystagmus (HP:0012043)	2.21953427
39	Anencephaly (HP:0002323)	2.21297461
40	Sclerocornea (HP:0000647)	2.20797296
41	Bile duct proliferation (HP:0001408)	2.20008579
42	Abnormal biliary tract physiology (HP:0012439)	2.20008579
43	Dyskinesia (HP:0100660)	2.16902855
44	Abnormality of the labia minora (HP:0012880)	2.16743835
45	Keratoconus (HP:0000563)	2.16240897
46	Increased corneal curvature (HP:0100692)	2.16240897
47	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.14605170
48	Abolished electroretinogram (ERG) (HP:0000550)	2.14225747
49	Congenital hepatic fibrosis (HP:0002612)	2.11696116
50	Hepatic necrosis (HP:0002605)	2.11023616
51	Postaxial hand polydactyly (HP:0001162)	2.10081174
52	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.09533482
53	Postaxial foot polydactyly (HP:0001830)	2.07798812
54	Lissencephaly (HP:0001339)	2.06399601
55	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.05836886
56	Hypoplasia of the fovea (HP:0007750)	2.05836886
57	Hepatocellular necrosis (HP:0001404)	2.05521813
58	Short tibia (HP:0005736)	2.05299417
59	Optic disc pallor (HP:0000543)	2.04085210
60	3-Methylglutaconic aciduria (HP:0003535)	2.00238679
61	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.98804218
62	Lipid accumulation in hepatocytes (HP:0006561)	1.96986369
63	Inability to walk (HP:0002540)	1.96626634
64	Progressive inability to walk (HP:0002505)	1.96603362
65	Polyuria (HP:0000103)	1.96165924
66	Renal cortical cysts (HP:0000803)	1.95851641
67	Abnormal mitochondria in muscle tissue (HP:0008316)	1.95180772
68	Congenital, generalized hypertrichosis (HP:0004540)	1.94320016
69	Abnormality of the phalanges of the 2nd finger (HP:0009541)	1.93783359
70	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.92466384
71	Absent/shortened dynein arms (HP:0200106)	1.92466384
72	Increased hepatocellular lipid droplets (HP:0006565)	1.92386961
73	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.92256756
74	Abnormality of alanine metabolism (HP:0010916)	1.91302209
75	Hyperalaninemia (HP:0003348)	1.91302209
76	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.91302209
77	Cerebellar dysplasia (HP:0007033)	1.90934583
78	Small hand (HP:0200055)	1.90189093
79	Poor coordination (HP:0002370)	1.89695590
80	Retinitis pigmentosa (HP:0000510)	1.89628051
81	Colon cancer (HP:0003003)	1.89504743
82	Occipital encephalocele (HP:0002085)	1.87393490
83	Astigmatism (HP:0000483)	1.85351480
84	Optic nerve hypoplasia (HP:0000609)	1.83989273
85	Intestinal atresia (HP:0011100)	1.83460431
86	Abnormality of the fovea (HP:0000493)	1.83441278
87	Decreased muscle mass (HP:0003199)	1.82990596
88	Oligodactyly (hands) (HP:0001180)	1.82752194
89	Abnormal ciliary motility (HP:0012262)	1.81414376
90	Chorioretinal atrophy (HP:0000533)	1.81125474
91	Aplasia/hypoplasia of the uterus (HP:0008684)	1.79732477
92	Broad-based gait (HP:0002136)	1.79399760
93	Gaze-evoked nystagmus (HP:0000640)	1.78925496
94	Retinal dysplasia (HP:0007973)	1.78796052
95	Absent speech (HP:0001344)	1.75263045
96	Abnormality of serine family amino acid metabolism (HP:0010894)	1.73069466
97	Abnormality of glycine metabolism (HP:0010895)	1.73069466
98	Pachygyria (HP:0001302)	1.72951329
99	Aganglionic megacolon (HP:0002251)	1.72215721
100	Abnormality of the ileum (HP:0001549)	1.71370599

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.12615498
2	MAP4K2	3.61077431
3	NUAK1	2.92830340
4	WNK3	2.75951485
5	ZAK	2.58750409
6	MAPK13	2.33216789
7	TRIM28	2.31775566
8	ADRBK2	2.29344970
9	BMPR1B	2.22677320
10	GRK1	2.17402247
11	TAOK3	2.10692421
12	VRK2	2.04960435
13	MAP3K4	1.89931832
14	PINK1	1.82981602
15	OXSR1	1.73674996
16	INSRR	1.73673898
17	CASK	1.64982946
18	STK38L	1.46905385
19	VRK1	1.43909216
20	BCR	1.42642619
21	ACVR1B	1.39221339
22	STK39	1.38909290
23	PAK3	1.35809744
24	MUSK	1.30952432
25	WNK4	1.29676114
26	BRSK2	1.28059428
27	MAP2K7	1.25755537
28	DYRK2	1.25511687
29	PLK2	1.25039142
30	CSNK1G1	1.22642490
31	PRKD3	1.18115006
32	ERBB3	1.18018924
33	MST4	1.18002571
34	EIF2AK3	1.14763073
35	CSNK1G3	1.11263755
36	MARK1	1.08928685
37	EPHA4	1.05735234
38	CSNK1G2	1.02420627
39	TLK1	1.02316958
40	PLK3	1.01934931
41	TAF1	1.00290340
42	CDK8	0.94852458
43	PKN1	0.94484435
44	TGFBR1	0.94453995
45	PRKCE	0.92351573
46	WEE1	0.90372536
47	MKNK2	0.89952310
48	NTRK2	0.89287212
49	TXK	0.87081942
50	CSNK1A1L	0.84085173
51	BCKDK	0.83145791
52	MAPKAPK3	0.83039137
53	DAPK2	0.82471593
54	STK3	0.78900123
55	MAPKAPK5	0.78254399
56	ADRBK1	0.76854737
57	PLK4	0.75301447
58	PDK2	0.72056429
59	PRKCG	0.71018963
60	TNK2	0.70395370
61	FER	0.68188631
62	TNIK	0.66090350
63	FGFR2	0.65950476
64	CDK9	0.65449041
65	MINK1	0.61609963
66	TIE1	0.61404332
67	PRKCI	0.60222021
68	CDK19	0.59804030
69	AKT3	0.53672909
70	PTK2B	0.53426512
71	PLK1	0.52968911
72	CAMK2A	0.52309882
73	GRK5	0.51419496
74	CDK3	0.49196182
75	EPHB2	0.48293415
76	PHKG2	0.48176500
77	PHKG1	0.48176500
78	PRKACA	0.48162494
79	MKNK1	0.47886680
80	DYRK1A	0.47846126
81	CSNK1A1	0.45813812
82	MAPK15	0.45446313
83	ATR	0.43998680
84	BUB1	0.42898953
85	NTRK3	0.42446375
86	NME1	0.42340408
87	MAP2K6	0.42030584
88	PRKCZ	0.41265083
89	PRKCQ	0.41016721
90	TEC	0.40296276
91	RPS6KA5	0.38901312
92	PIK3CG	0.38826304
93	LMTK2	0.38765446
94	PBK	0.37061338
95	CCNB1	0.35995908
96	STK24	0.35782319
97	MAP2K4	0.35267853
98	ABL1	0.34766079
99	CHEK2	0.34450232
100	PRKG1	0.34058853

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	2.77342271
2	Phototransduction_Homo sapiens_hsa04744	2.71789400
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.61978710
4	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.38431270
5	Protein export_Homo sapiens_hsa03060	2.33970413
6	Basal transcription factors_Homo sapiens_hsa03022	2.30782772
7	RNA degradation_Homo sapiens_hsa03018	2.25413887
8	Parkinsons disease_Homo sapiens_hsa05012	2.21934589
9	RNA polymerase_Homo sapiens_hsa03020	2.17631567
10	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.17052967
11	Homologous recombination_Homo sapiens_hsa03440	2.16873198
12	Linoleic acid metabolism_Homo sapiens_hsa00591	2.16647277
13	Butanoate metabolism_Homo sapiens_hsa00650	2.08796780
14	Fanconi anemia pathway_Homo sapiens_hsa03460	2.04880476
15	Proteasome_Homo sapiens_hsa03050	2.01809947
16	Nitrogen metabolism_Homo sapiens_hsa00910	1.98371354
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.96846139
18	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.91147070
19	Caffeine metabolism_Homo sapiens_hsa00232	1.90025004
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.88549750
21	Nicotine addiction_Homo sapiens_hsa05033	1.75746767
22	Ether lipid metabolism_Homo sapiens_hsa00565	1.70899414
23	Propanoate metabolism_Homo sapiens_hsa00640	1.68974451
24	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.65573095
25	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.58186387
26	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.58111741
27	Olfactory transduction_Homo sapiens_hsa04740	1.53306445
28	Huntingtons disease_Homo sapiens_hsa05016	1.51337005
29	Peroxisome_Homo sapiens_hsa04146	1.46842097
30	Tryptophan metabolism_Homo sapiens_hsa00380	1.44210371
31	Regulation of autophagy_Homo sapiens_hsa04140	1.40984734
32	Sulfur metabolism_Homo sapiens_hsa00920	1.39454541
33	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.33995620
34	Alzheimers disease_Homo sapiens_hsa05010	1.29186171
35	Taste transduction_Homo sapiens_hsa04742	1.22167424
36	Selenocompound metabolism_Homo sapiens_hsa00450	1.19333926
37	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.12921115
38	Cardiac muscle contraction_Homo sapiens_hsa04260	1.10135658
39	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.07683096
40	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.05551425
41	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.04315058
42	Base excision repair_Homo sapiens_hsa03410	1.03608203
43	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.01035957
44	Nucleotide excision repair_Homo sapiens_hsa03420	0.98878457
45	Chemical carcinogenesis_Homo sapiens_hsa05204	0.98578807
46	Mismatch repair_Homo sapiens_hsa03430	0.96589126
47	Purine metabolism_Homo sapiens_hsa00230	0.95930849
48	Collecting duct acid secretion_Homo sapiens_hsa04966	0.94979136
49	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.90563860
50	Morphine addiction_Homo sapiens_hsa05032	0.90289523
51	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.88525403
52	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.87209538
53	Retinol metabolism_Homo sapiens_hsa00830	0.87120107
54	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.86864035
55	Fatty acid elongation_Homo sapiens_hsa00062	0.84307315
56	Pyrimidine metabolism_Homo sapiens_hsa00240	0.84121960
57	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.83754198
58	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.83514033
59	RNA transport_Homo sapiens_hsa03013	0.82291935
60	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.80033889
61	ABC transporters_Homo sapiens_hsa02010	0.79912797
62	GABAergic synapse_Homo sapiens_hsa04727	0.78208030
63	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.74248663
64	Metabolic pathways_Homo sapiens_hsa01100	0.73110044
65	beta-Alanine metabolism_Homo sapiens_hsa00410	0.73085426
66	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.72810216
67	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.68534624
68	Fat digestion and absorption_Homo sapiens_hsa04975	0.66785366
69	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.65011059
70	Steroid biosynthesis_Homo sapiens_hsa00100	0.64215353
71	Ribosome_Homo sapiens_hsa03010	0.64146936
72	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.62136316
73	Non-homologous end-joining_Homo sapiens_hsa03450	0.60029529
74	Circadian rhythm_Homo sapiens_hsa04710	0.59817233
75	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.57668368
76	Histidine metabolism_Homo sapiens_hsa00340	0.57297087
77	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.57178128
78	Mineral absorption_Homo sapiens_hsa04978	0.51944530
79	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.50668702
80	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.50423037
81	Serotonergic synapse_Homo sapiens_hsa04726	0.50114479
82	Insulin secretion_Homo sapiens_hsa04911	0.48556056
83	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.47111271
84	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.46186795
85	Arginine and proline metabolism_Homo sapiens_hsa00330	0.44821447
86	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.40577413
87	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.39729594
88	Folate biosynthesis_Homo sapiens_hsa00790	0.39673662
89	Oocyte meiosis_Homo sapiens_hsa04114	0.38821697
90	Glutamatergic synapse_Homo sapiens_hsa04724	0.38813308
91	Circadian entrainment_Homo sapiens_hsa04713	0.38510398
92	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.37693244
93	p53 signaling pathway_Homo sapiens_hsa04115	0.37088875
94	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.36344596
95	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.35668901
96	DNA replication_Homo sapiens_hsa03030	0.35539335
97	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.35217816
98	Glycerolipid metabolism_Homo sapiens_hsa00561	0.34893001
99	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.33464468
100	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.32855266

CARM1P1

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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