ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	6.67625781
2	fucose catabolic process (GO:0019317)	4.38554558
3	L-fucose metabolic process (GO:0042354)	4.38554558
4	L-fucose catabolic process (GO:0042355)	4.38554558
5	DNA deamination (GO:0045006)	4.21051109
6	response to pheromone (GO:0019236)	4.18714005
7	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	3.69861528
8	substrate-independent telencephalic tangential migration (GO:0021826)	3.69861528
9	negative regulation of telomere maintenance (GO:0032205)	3.61788607
10	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.55366686
11	epithelial cilium movement (GO:0003351)	3.49513680
12	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.48694402
13	ATP synthesis coupled proton transport (GO:0015986)	3.48694402
14	platelet dense granule organization (GO:0060155)	3.39976303
15	protein polyglutamylation (GO:0018095)	3.37539424
16	water-soluble vitamin biosynthetic process (GO:0042364)	3.33999176
17	peristalsis (GO:0030432)	3.24058411
18	kynurenine metabolic process (GO:0070189)	3.20448182
19	negative regulation of synaptic transmission, GABAergic (GO:0032229)	3.17496079
20	synaptic transmission, cholinergic (GO:0007271)	3.17031054
21	detection of light stimulus involved in visual perception (GO:0050908)	3.14579118
22	detection of light stimulus involved in sensory perception (GO:0050962)	3.14579118
23	negative regulation of mast cell activation (GO:0033004)	3.11087306
24	protein-cofactor linkage (GO:0018065)	3.11051384
25	piRNA metabolic process (GO:0034587)	3.11004798
26	cellular ketone body metabolic process (GO:0046950)	3.09563379
27	nonmotile primary cilium assembly (GO:0035058)	3.06802218
28	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.06775119
29	cellular response to ATP (GO:0071318)	3.03594626
30	neuronal action potential (GO:0019228)	3.03264752
31	indolalkylamine metabolic process (GO:0006586)	3.01579925
32	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.99929931
33	NADH dehydrogenase complex assembly (GO:0010257)	2.99929931
34	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.99929931
35	protein import into peroxisome matrix (GO:0016558)	2.98803543
36	transmission of nerve impulse (GO:0019226)	2.97987646
37	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.97200167
38	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.97200167
39	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.96928767
40	cilium movement (GO:0003341)	2.93750724
41	ubiquinone metabolic process (GO:0006743)	2.91408245
42	respiratory chain complex IV assembly (GO:0008535)	2.91322777
43	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.90839688
44	tryptophan catabolic process (GO:0006569)	2.90402801
45	indole-containing compound catabolic process (GO:0042436)	2.90402801
46	indolalkylamine catabolic process (GO:0046218)	2.90402801
47	sulfation (GO:0051923)	2.90363745
48	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.89701699
49	cytidine metabolic process (GO:0046087)	2.89447009
50	cytidine catabolic process (GO:0006216)	2.89447009
51	cytidine deamination (GO:0009972)	2.89447009
52	ubiquinone biosynthetic process (GO:0006744)	2.86024742
53	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.85993358
54	intracellular protein transmembrane import (GO:0044743)	2.85914411
55	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.85478114
56	primary amino compound metabolic process (GO:1901160)	2.82528449
57	protein complex biogenesis (GO:0070271)	2.81641533
58	regulation of dopamine uptake involved in synaptic transmission (GO:0051584)	2.78561003
59	regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)	2.78561003
60	amine catabolic process (GO:0009310)	2.76630215
61	cellular biogenic amine catabolic process (GO:0042402)	2.76630215
62	ketone body metabolic process (GO:1902224)	2.72861294
63	regulation of neurotransmitter uptake (GO:0051580)	2.71809036
64	regulation of action potential (GO:0098900)	2.71695859
65	regulation of cilium movement (GO:0003352)	2.70371740
66	mitochondrial respiratory chain complex assembly (GO:0033108)	2.69639442
67	preassembly of GPI anchor in ER membrane (GO:0016254)	2.69333262
68	nephron tubule morphogenesis (GO:0072078)	2.64490040
69	nephron epithelium morphogenesis (GO:0072088)	2.64490040
70	cilium organization (GO:0044782)	2.62450968
71	axoneme assembly (GO:0035082)	2.61435891
72	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.60933871
73	proton transport (GO:0015992)	2.59629836
74	glycerophospholipid catabolic process (GO:0046475)	2.58982570
75	parturition (GO:0007567)	2.58645527
76	reflex (GO:0060004)	2.57738444
77	pyrimidine ribonucleoside catabolic process (GO:0046133)	2.56864134
78	somite development (GO:0061053)	2.55981194
79	cilium assembly (GO:0042384)	2.55547110
80	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.55420414
81	somite rostral/caudal axis specification (GO:0032525)	2.55352080
82	positive regulation of defense response to virus by host (GO:0002230)	2.54825626
83	hydrogen transport (GO:0006818)	2.54611514
84	kidney morphogenesis (GO:0060993)	2.54284100
85	endoderm formation (GO:0001706)	2.53369401
86	hydrogen ion transmembrane transport (GO:1902600)	2.53293001
87	positive regulation of fatty acid transport (GO:2000193)	2.52844585
88	phosphatidylethanolamine acyl-chain remodeling (GO:0036152)	2.50829981
89	cilium morphogenesis (GO:0060271)	2.48673849
90	axon ensheathment in central nervous system (GO:0032291)	2.47080474
91	central nervous system myelination (GO:0022010)	2.47080474
92	mannosylation (GO:0097502)	2.46248656
93	activated T cell proliferation (GO:0050798)	2.46082258
94	behavioral response to ethanol (GO:0048149)	2.44238325
95	electron transport chain (GO:0022900)	2.42635686
96	intraciliary transport (GO:0042073)	2.42338386
97	dopamine transport (GO:0015872)	2.42061738
98	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.40689756
99	indole-containing compound metabolic process (GO:0042430)	2.39527638
100	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	2.39359538

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.16905739
2	VDR_22108803_ChIP-Seq_LS180_Human	4.01666699
3	ZNF274_21170338_ChIP-Seq_K562_Hela	3.99400404
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.71423086
5	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.56265749
6	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.39749944
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.14098466
8	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.11833425
9	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.10289825
10	GBX2_23144817_ChIP-Seq_PC3_Human	2.03126365
11	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.03068585
12	IGF1R_20145208_ChIP-Seq_DFB_Human	1.98867546
13	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.95633207
14	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.94791047
15	EWS_26573619_Chip-Seq_HEK293_Human	1.85366084
16	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.83703641
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.82563811
18	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.80688136
19	TP53_22573176_ChIP-Seq_HFKS_Human	1.77154459
20	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.74454058
21	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.73633723
22	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.73048726
23	FUS_26573619_Chip-Seq_HEK293_Human	1.71726168
24	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.70391475
25	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.66687283
26	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.64592164
27	P300_19829295_ChIP-Seq_ESCs_Human	1.64255569
28	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.60468945
29	REST_21632747_ChIP-Seq_MESCs_Mouse	1.59636702
30	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.58646145
31	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.55694444
32	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.55537542
33	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.54054604
34	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.54054604
35	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.52790676
36	MYC_18940864_ChIP-ChIP_HL60_Human	1.48693759
37	ER_23166858_ChIP-Seq_MCF-7_Human	1.44428147
38	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.40544810
39	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.40323800
40	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.36504685
41	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.34938002
42	IRF1_19129219_ChIP-ChIP_H3396_Human	1.33291705
43	RNF2_27304074_Chip-Seq_NSC_Mouse	1.32532247
44	AR_21572438_ChIP-Seq_LNCaP_Human	1.31760413
45	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.31401126
46	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.30751064
47	NANOG_19829295_ChIP-Seq_ESCs_Human	1.30593140
48	SOX2_19829295_ChIP-Seq_ESCs_Human	1.30593140
49	BCAT_22108803_ChIP-Seq_LS180_Human	1.28843284
50	HOXB7_26014856_ChIP-Seq_BT474_Human	1.27019443
51	ERA_21632823_ChIP-Seq_H3396_Human	1.26300600
52	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.24844290
53	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.22382542
54	TAF2_19829295_ChIP-Seq_ESCs_Human	1.22145761
55	NCOR_22424771_ChIP-Seq_293T_Human	1.22014356
56	TAF15_26573619_Chip-Seq_HEK293_Human	1.21292348
57	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.20948345
58	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.20948345
59	MYC_19829295_ChIP-Seq_ESCs_Human	1.20677750
60	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.19121511
61	NANOG_20526341_ChIP-Seq_ESCs_Human	1.18794247
62	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.17855830
63	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.16614180
64	CBP_20019798_ChIP-Seq_JUKART_Human	1.16108641
65	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.16108641
66	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.14872396
67	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.14263955
68	AR_20517297_ChIP-Seq_VCAP_Human	1.13747781
69	TCF4_22108803_ChIP-Seq_LS180_Human	1.13233934
70	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.12639851
71	AR_25329375_ChIP-Seq_VCAP_Human	1.12631252
72	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.11791834
73	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.11667379
74	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.11575145
75	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.11091602
76	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.10697119
77	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.09400034
78	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.08719723
79	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.07189906
80	VDR_23849224_ChIP-Seq_CD4+_Human	1.06563325
81	STAT3_23295773_ChIP-Seq_U87_Human	1.06163144
82	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.05164946
83	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.04014504
84	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.03330560
85	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.03273827
86	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.02901738
87	P53_21459846_ChIP-Seq_SAOS-2_Human	1.02690660
88	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.02658949
89	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.02538661
90	TCF4_23295773_ChIP-Seq_U87_Human	1.02494691
91	RUNX2_22187159_ChIP-Seq_PCA_Human	1.01918533
92	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.01782536
93	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.00015377
94	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.97645115
95	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.96042721
96	SMAD4_21799915_ChIP-Seq_A2780_Human	0.95343292
97	ELK1_19687146_ChIP-ChIP_HELA_Human	0.94255017
98	WDR5_24793694_ChIP-Seq_LNCAP_Human	0.94009903
99	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.93148728
100	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.92626758

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	2.99614020
2	MP0003195_calcinosis	2.77772202
3	MP0002653_abnormal_ependyma_morphology	2.59979374
4	MP0001968_abnormal_touch/_nociception	2.56506035
5	MP0005423_abnormal_somatic_nervous	2.49603860
6	MP0002102_abnormal_ear_morphology	2.40505575
7	MP0004885_abnormal_endolymph	2.38254888
8	MP0001986_abnormal_taste_sensitivity	2.27476411
9	MP0005551_abnormal_eye_electrophysiolog	2.27069844
10	MP0008875_abnormal_xenobiotic_pharmacok	2.23661106
11	MP0003787_abnormal_imprinting	2.20050036
12	MP0003136_yellow_coat_color	2.10493669
13	MP0003011_delayed_dark_adaptation	2.09770209
14	MP0005646_abnormal_pituitary_gland	1.96667025
15	MP0009745_abnormal_behavioral_response	1.94402163
16	MP0005084_abnormal_gallbladder_morpholo	1.93515537
17	MP0009046_muscle_twitch	1.93337512
18	MP0008872_abnormal_physiological_respon	1.93119254
19	MP0003122_maternal_imprinting	1.91743800
20	MP0004142_abnormal_muscle_tone	1.91456182
21	MP0002638_abnormal_pupillary_reflex	1.89833499
22	MP0002736_abnormal_nociception_after	1.85192940
23	MP0004133_heterotaxia	1.84404652
24	MP0004147_increased_porphyrin_level	1.81941240
25	MP0004742_abnormal_vestibular_system	1.81546174
26	MP0005645_abnormal_hypothalamus_physiol	1.73805069
27	MP0000372_irregular_coat_pigmentation	1.73602183
28	MP0001486_abnormal_startle_reflex	1.71946439
29	MP0006292_abnormal_olfactory_placode	1.70662714
30	MP0002272_abnormal_nervous_system	1.68194764
31	MP0002876_abnormal_thyroid_physiology	1.67030094
32	MP0002837_dystrophic_cardiac_calcinosis	1.66673861
33	MP0006072_abnormal_retinal_apoptosis	1.64962654
34	MP0001188_hyperpigmentation	1.60086145
35	MP0001485_abnormal_pinna_reflex	1.51397296
36	MP0002822_catalepsy	1.50134200
37	MP0006276_abnormal_autonomic_nervous	1.49982263
38	MP0003880_abnormal_central_pattern	1.49524770
39	MP0004145_abnormal_muscle_electrophysio	1.48269426
40	MP0002572_abnormal_emotion/affect_behav	1.47854631
41	MP0001502_abnormal_circadian_rhythm	1.46104210
42	MP0002735_abnormal_chemical_nociception	1.42139408
43	MP0008995_early_reproductive_senescence	1.39612812
44	MP0005253_abnormal_eye_physiology	1.39348143
45	MP0002163_abnormal_gland_morphology	1.38185833
46	MP0001501_abnormal_sleep_pattern	1.37725139
47	MP0005379_endocrine/exocrine_gland_phen	1.37488902
48	MP0000569_abnormal_digit_pigmentation	1.34373264
49	MP0001905_abnormal_dopamine_level	1.34318152
50	MP0002557_abnormal_social/conspecific_i	1.32317760
51	MP0000631_abnormal_neuroendocrine_gland	1.31603976
52	MP0001970_abnormal_pain_threshold	1.30191127
53	MP0002733_abnormal_thermal_nociception	1.28739992
54	MP0009379_abnormal_foot_pigmentation	1.27898919
55	MP0002064_seizures	1.23858136
56	MP0005174_abnormal_tail_pigmentation	1.21097049
57	MP0002938_white_spotting	1.20597372
58	MP0004043_abnormal_pH_regulation	1.19729511
59	MP0003878_abnormal_ear_physiology	1.19713406
60	MP0005377_hearing/vestibular/ear_phenot	1.19713406
61	MP0000427_abnormal_hair_cycle	1.17045821
62	MP0003890_abnormal_embryonic-extraembry	1.16013040
63	MP0002063_abnormal_learning/memory/cond	1.15569380
64	MP0003646_muscle_fatigue	1.13770066
65	MP0000026_abnormal_inner_ear	1.12445822
66	MP0000778_abnormal_nervous_system	1.12137063
67	MP0002067_abnormal_sensory_capabilities	1.11995246
68	MP0002928_abnormal_bile_duct	1.11246853
69	MP0003119_abnormal_digestive_system	1.11198118
70	MP0003635_abnormal_synaptic_transmissio	1.10651837
71	MP0001529_abnormal_vocalization	1.10361166
72	MP0000049_abnormal_middle_ear	1.05637456
73	MP0003121_genomic_imprinting	1.03490322
74	MP0002160_abnormal_reproductive_system	1.01852740
75	MP0004924_abnormal_behavior	1.01359827
76	MP0005386_behavior/neurological_phenoty	1.01359827
77	MP0001293_anophthalmia	0.98398945
78	MP0002734_abnormal_mechanical_nocicepti	0.98002392
79	MP0005195_abnormal_posterior_eye	0.96690850
80	MP0002184_abnormal_innervation	0.94320033
81	MP0002752_abnormal_somatic_nervous	0.93315911
82	MP0001984_abnormal_olfaction	0.92316395
83	MP0002909_abnormal_adrenal_gland	0.91211528
84	MP0001324_abnormal_eye_pigmentation	0.91139504
85	MP0005389_reproductive_system_phenotype	0.89974895
86	MP0001963_abnormal_hearing_physiology	0.87556785
87	MP0002210_abnormal_sex_determination	0.83937115
88	MP0003283_abnormal_digestive_organ	0.83553423
89	MP0005671_abnormal_response_to	0.83322062
90	MP0008789_abnormal_olfactory_epithelium	0.83065845
91	MP0001440_abnormal_grooming_behavior	0.82691476
92	MP0002138_abnormal_hepatobiliary_system	0.80848295
93	MP0003137_abnormal_impulse_conducting	0.79805039
94	MP0000538_abnormal_urinary_bladder	0.78645207
95	MP0002751_abnormal_autonomic_nervous	0.78542823
96	MP0000230_abnormal_systemic_arterial	0.77226826
97	MP0005171_absent_coat_pigmentation	0.75852614
98	MP0003937_abnormal_limbs/digits/tail_de	0.75757759
99	MP0001919_abnormal_reproductive_system	0.74869127
100	MP0003938_abnormal_ear_development	0.73526058

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Molar tooth sign on MRI (HP:0002419)	4.63715880
2	Abnormality of midbrain morphology (HP:0002418)	4.63715880
3	Pancreatic cysts (HP:0001737)	4.49075873
4	Pancreatic fibrosis (HP:0100732)	4.40119933
5	True hermaphroditism (HP:0010459)	4.32267959
6	Congenital stationary night blindness (HP:0007642)	4.06698553
7	Nephronophthisis (HP:0000090)	3.39337170
8	Type II lissencephaly (HP:0007260)	3.34237297
9	Medial flaring of the eyebrow (HP:0010747)	3.17954040
10	Pendular nystagmus (HP:0012043)	2.87823595
11	Cystic liver disease (HP:0006706)	2.82658480
12	Decreased central vision (HP:0007663)	2.80433052
13	Abnormality of the renal medulla (HP:0100957)	2.78866842
14	Gait imbalance (HP:0002141)	2.73739717
15	Attenuation of retinal blood vessels (HP:0007843)	2.72941225
16	Abnormality of the renal cortex (HP:0011035)	2.70766616
17	Sclerocornea (HP:0000647)	2.70545899
18	Abolished electroretinogram (ERG) (HP:0000550)	2.67712286
19	Inability to walk (HP:0002540)	2.66597581
20	Anencephaly (HP:0002323)	2.65989340
21	Concave nail (HP:0001598)	2.65878211
22	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.61666832
23	Abnormality of alanine metabolism (HP:0010916)	2.61666832
24	Hyperalaninemia (HP:0003348)	2.61666832
25	Congenital primary aphakia (HP:0007707)	2.59318920
26	Chronic hepatic failure (HP:0100626)	2.57465624
27	3-Methylglutaconic aciduria (HP:0003535)	2.50731654
28	Hyperventilation (HP:0002883)	2.48626558
29	Absent/shortened dynein arms (HP:0200106)	2.45858528
30	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.45858528
31	Abnormal rod and cone electroretinograms (HP:0008323)	2.40200851
32	Abnormal drinking behavior (HP:0030082)	2.39791789
33	Polydipsia (HP:0001959)	2.39791789
34	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.38680100
35	Large for gestational age (HP:0001520)	2.36672323
36	Mitochondrial inheritance (HP:0001427)	2.35864787
37	Abnormal number of erythroid precursors (HP:0012131)	2.35334059
38	Nephrogenic diabetes insipidus (HP:0009806)	2.34109943
39	Furrowed tongue (HP:0000221)	2.32532708
40	Increased corneal curvature (HP:0100692)	2.32318802
41	Keratoconus (HP:0000563)	2.32318802
42	Congenital hepatic fibrosis (HP:0002612)	2.32291980
43	Congenital, generalized hypertrichosis (HP:0004540)	2.29583590
44	Renal cortical cysts (HP:0000803)	2.29179932
45	Cerebellar dysplasia (HP:0007033)	2.25296797
46	Optic disc pallor (HP:0000543)	2.23673983
47	Male pseudohermaphroditism (HP:0000037)	2.23176159
48	Acute necrotizing encephalopathy (HP:0006965)	2.22951836
49	Lissencephaly (HP:0001339)	2.22646392
50	Tubular atrophy (HP:0000092)	2.22362456
51	Abnormality of the pons (HP:0007361)	2.20387262
52	Abnormal respiratory motile cilium morphology (HP:0005938)	2.19643377
53	Abnormal respiratory epithelium morphology (HP:0012253)	2.19643377
54	Patellar aplasia (HP:0006443)	2.18215184
55	Abnormality of cells of the erythroid lineage (HP:0012130)	2.16945623
56	Retinal dysplasia (HP:0007973)	2.16045885
57	Occipital encephalocele (HP:0002085)	2.14640568
58	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.12393512
59	Lipid accumulation in hepatocytes (HP:0006561)	2.11153023
60	Increased hepatocellular lipid droplets (HP:0006565)	2.09352245
61	Aplasia/Hypoplasia of the patella (HP:0006498)	2.09212368
62	Rib fusion (HP:0000902)	2.09008087
63	Genital tract atresia (HP:0001827)	2.08212404
64	Supernumerary spleens (HP:0009799)	2.08124991
65	Increased CSF lactate (HP:0002490)	2.06099799
66	Pachygyria (HP:0001302)	2.04259871
67	Bile duct proliferation (HP:0001408)	2.02991373
68	Abnormal biliary tract physiology (HP:0012439)	2.02991373
69	Methylmalonic acidemia (HP:0002912)	2.02845979
70	Polyuria (HP:0000103)	2.02585930
71	Vaginal atresia (HP:0000148)	2.02043788
72	Acute encephalopathy (HP:0006846)	2.01695854
73	Limb dystonia (HP:0002451)	2.01201108
74	Stomach cancer (HP:0012126)	1.99631840
75	Hypoplasia of the pons (HP:0012110)	1.98633427
76	Abnormal mitochondria in muscle tissue (HP:0008316)	1.98343677
77	Postaxial foot polydactyly (HP:0001830)	1.97877408
78	Mesangial abnormality (HP:0001966)	1.97634340
79	Abnormal ciliary motility (HP:0012262)	1.93145868
80	Optic nerve hypoplasia (HP:0000609)	1.88570703
81	Agitation (HP:0000713)	1.88135180
82	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.87336879
83	Chorioretinal atrophy (HP:0000533)	1.86862671
84	Severe muscular hypotonia (HP:0006829)	1.86689815
85	Progressive cerebellar ataxia (HP:0002073)	1.86018533
86	Short tibia (HP:0005736)	1.84570081
87	Progressive inability to walk (HP:0002505)	1.82797712
88	Abnormal respiratory motile cilium physiology (HP:0012261)	1.81302940
89	Postaxial hand polydactyly (HP:0001162)	1.80847471
90	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.80310279
91	Abnormality of the renal collecting system (HP:0004742)	1.79809552
92	Dandy-Walker malformation (HP:0001305)	1.79106014
93	Progressive macrocephaly (HP:0004481)	1.78949121
94	Decreased circulating renin level (HP:0003351)	1.78723501
95	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.78302665
96	Poor coordination (HP:0002370)	1.77118427
97	Broad-based gait (HP:0002136)	1.74190627
98	Tachypnea (HP:0002789)	1.73423710
99	Reticulocytopenia (HP:0001896)	1.72471175
100	Preaxial hand polydactyly (HP:0001177)	1.71486842

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ZAK	4.19079300
2	ADRBK2	3.96481327
3	WNK4	3.06206186
4	MAP4K2	2.98590793
5	FRK	2.91178200
6	TLK1	2.89777507
7	WNK3	2.67408441
8	GRK1	2.52370014
9	ACVR1B	2.28649743
10	BMPR1B	2.27740921
11	CASK	2.25091102
12	PINK1	1.98820992
13	DAPK2	1.97515467
14	NUAK1	1.93500903
15	INSRR	1.91861359
16	MARK1	1.89208090
17	MAPK13	1.85544786
18	MAPK15	1.67202194
19	OXSR1	1.45827911
20	PNCK	1.45311297
21	DYRK2	1.44276545
22	STK39	1.41031914
23	TXK	1.40139696
24	MAP3K9	1.38702152
25	ADRBK1	1.37965419
26	MAP3K4	1.32309315
27	TAOK3	1.20894908
28	NTRK3	1.17920958
29	PAK3	1.17583929
30	MUSK	1.12922158
31	CAMKK2	1.10650727
32	MAP2K7	1.09881288
33	STK16	1.09373666
34	CSNK1G2	1.08305545
35	TRIM28	1.05566139
36	CSNK1G3	1.01914104
37	NTRK2	1.01684866
38	EPHB2	1.00030512
39	VRK1	0.99994427
40	TGFBR1	0.98670125
41	PRKCG	0.95995442
42	MKNK2	0.88494847
43	CSNK1G1	0.85123586
44	RPS6KA5	0.81342711
45	BCKDK	0.78613821
46	DYRK3	0.77741481
47	MAP2K4	0.77449612
48	NME1	0.77187299
49	PRKCE	0.76582147
50	MAPKAPK3	0.74962850
51	PRKCQ	0.72292478
52	DYRK1B	0.70997768
53	CSNK1A1L	0.70938220
54	PIK3CA	0.70764167
55	BUB1	0.69657436
56	VRK2	0.68642935
57	PHKG2	0.66302560
58	PHKG1	0.66302560
59	LIMK1	0.65153281
60	TIE1	0.58851099
61	STK38L	0.58265282
62	MAP3K12	0.57615114
63	PLK4	0.55868821
64	PRKACA	0.53645420
65	MAP2K6	0.51999800
66	CHEK2	0.51309788
67	RPS6KA4	0.51071472
68	CAMK2A	0.50470672
69	MKNK1	0.48821484
70	CAMK1	0.48248070
71	PTK2B	0.47979006
72	FLT3	0.47211684
73	DYRK1A	0.46386991
74	KIT	0.45478413
75	PLK3	0.43979063
76	TNIK	0.43788564
77	MAPKAPK5	0.43133787
78	BCR	0.42434902
79	PLK2	0.42173910
80	WEE1	0.41784842
81	PKN1	0.41562835
82	SGK223	0.40808565
83	SGK494	0.40808565
84	STK3	0.40715422
85	CHUK	0.40566189
86	ITK	0.40523491
87	IKBKB	0.40041823
88	PRKG1	0.39760122
89	PIK3CG	0.39639058
90	PIM2	0.39220872
91	SGK2	0.36861369
92	PAK6	0.36426270
93	STK11	0.35399293
94	CSNK1A1	0.34274637
95	PRKCI	0.33557976
96	PLK1	0.32758900
97	GRK7	0.32715301
98	MAP2K1	0.32435993
99	PRKCA	0.32265562
100	SIK2	0.31753168

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.07312395
2	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	3.02725500
3	Linoleic acid metabolism_Homo sapiens_hsa00591	2.98955380
4	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.62581613
5	Parkinsons disease_Homo sapiens_hsa05012	2.47550987
6	Phototransduction_Homo sapiens_hsa04744	2.42878136
7	Nicotine addiction_Homo sapiens_hsa05033	2.29619842
8	Butanoate metabolism_Homo sapiens_hsa00650	2.26358329
9	Ribosome_Homo sapiens_hsa03010	2.22178871
10	Nitrogen metabolism_Homo sapiens_hsa00910	2.20255454
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.12175692
12	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.09879440
13	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.04634054
14	Ether lipid metabolism_Homo sapiens_hsa00565	2.01080411
15	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.99649476
16	Protein export_Homo sapiens_hsa03060	1.89695415
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.83166333
18	Selenocompound metabolism_Homo sapiens_hsa00450	1.81246698
19	RNA polymerase_Homo sapiens_hsa03020	1.78466807
20	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.77638448
21	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.75733362
22	Cardiac muscle contraction_Homo sapiens_hsa04260	1.71829840
23	Huntingtons disease_Homo sapiens_hsa05016	1.52751759
24	Alzheimers disease_Homo sapiens_hsa05010	1.52519582
25	Basal transcription factors_Homo sapiens_hsa03022	1.39309415
26	Peroxisome_Homo sapiens_hsa04146	1.38647797
27	Collecting duct acid secretion_Homo sapiens_hsa04966	1.37396026
28	Tryptophan metabolism_Homo sapiens_hsa00380	1.36422486
29	Caffeine metabolism_Homo sapiens_hsa00232	1.35812970
30	Morphine addiction_Homo sapiens_hsa05032	1.33498555
31	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.33179243
32	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.31286778
33	Taste transduction_Homo sapiens_hsa04742	1.27622144
34	Olfactory transduction_Homo sapiens_hsa04740	1.17422413
35	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.14936183
36	Homologous recombination_Homo sapiens_hsa03440	1.13774220
37	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.13561221
38	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.12971458
39	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.09146403
40	Regulation of autophagy_Homo sapiens_hsa04140	1.08235065
41	Serotonergic synapse_Homo sapiens_hsa04726	1.05986997
42	One carbon pool by folate_Homo sapiens_hsa00670	1.05925713
43	RNA degradation_Homo sapiens_hsa03018	1.04028529
44	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.02764581
45	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.02264044
46	Chemical carcinogenesis_Homo sapiens_hsa05204	1.02022189
47	GABAergic synapse_Homo sapiens_hsa04727	0.98151054
48	Fat digestion and absorption_Homo sapiens_hsa04975	0.97509710
49	Primary immunodeficiency_Homo sapiens_hsa05340	0.97281319
50	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.95975772
51	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.94459405
52	Fanconi anemia pathway_Homo sapiens_hsa03460	0.93896572
53	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.91818681
54	Insulin secretion_Homo sapiens_hsa04911	0.91750142
55	Circadian entrainment_Homo sapiens_hsa04713	0.86133139
56	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.85755107
57	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.85252566
58	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.78991138
59	Retinol metabolism_Homo sapiens_hsa00830	0.76587389
60	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.76521439
61	Propanoate metabolism_Homo sapiens_hsa00640	0.75881649
62	Glutamatergic synapse_Homo sapiens_hsa04724	0.75751663
63	ABC transporters_Homo sapiens_hsa02010	0.71730882
64	Purine metabolism_Homo sapiens_hsa00230	0.70127198
65	Cocaine addiction_Homo sapiens_hsa05030	0.69802156
66	Proteasome_Homo sapiens_hsa03050	0.68589004
67	Sulfur metabolism_Homo sapiens_hsa00920	0.66744942
68	Asthma_Homo sapiens_hsa05310	0.66068939
69	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.63358975
70	Dopaminergic synapse_Homo sapiens_hsa04728	0.62866148
71	Metabolic pathways_Homo sapiens_hsa01100	0.62581941
72	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.60534628
73	Sulfur relay system_Homo sapiens_hsa04122	0.58048863
74	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.55808420
75	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.54573110
76	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.54433516
77	Mineral absorption_Homo sapiens_hsa04978	0.54036784
78	Pyrimidine metabolism_Homo sapiens_hsa00240	0.52833641
79	Amphetamine addiction_Homo sapiens_hsa05031	0.50401618
80	Calcium signaling pathway_Homo sapiens_hsa04020	0.48485518
81	Salivary secretion_Homo sapiens_hsa04970	0.47601247
82	beta-Alanine metabolism_Homo sapiens_hsa00410	0.46608837
83	Rheumatoid arthritis_Homo sapiens_hsa05323	0.45667118
84	Histidine metabolism_Homo sapiens_hsa00340	0.44509950
85	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.43963629
86	Circadian rhythm_Homo sapiens_hsa04710	0.43849454
87	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.43682978
88	Long-term depression_Homo sapiens_hsa04730	0.42943989
89	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.42679667
90	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.40194026
91	Steroid biosynthesis_Homo sapiens_hsa00100	0.39557237
92	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.39477792
93	Glycerolipid metabolism_Homo sapiens_hsa00561	0.37970529
94	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.36529276
95	Type I diabetes mellitus_Homo sapiens_hsa04940	0.36030588
96	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.35910975
97	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.34677724
98	Basal cell carcinoma_Homo sapiens_hsa05217	0.31863151
99	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.30143264
100	Graft-versus-host disease_Homo sapiens_hsa05332	0.29998942

SHC1P2

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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