ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	establishment of protein localization to mitochondrial membrane (GO:0090151)	6.22621207
2	behavioral response to nicotine (GO:0035095)	5.96051711
3	hindbrain development (GO:0030902)	5.50103182
4	regulation of hexokinase activity (GO:1903299)	4.92214860
5	regulation of glucokinase activity (GO:0033131)	4.92214860
6	protein localization to synapse (GO:0035418)	4.64912361
7	regulation of respiratory gaseous exchange by neurological system process (GO:0002087)	4.58150555
8	regulation of respiratory system process (GO:0044065)	4.21905371
9	RNA destabilization (GO:0050779)	4.16331675
10	regulation of respiratory gaseous exchange (GO:0043576)	4.02564750
11	protein complex biogenesis (GO:0070271)	3.95525297
12	cytidine metabolic process (GO:0046087)	3.82755623
13	cytidine catabolic process (GO:0006216)	3.82755623
14	cytidine deamination (GO:0009972)	3.82755623
15	exploration behavior (GO:0035640)	3.74575369
16	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.67116628
17	NADH dehydrogenase complex assembly (GO:0010257)	3.67116628
18	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.67116628
19	DNA deamination (GO:0045006)	3.62003979
20	mitochondrial respiratory chain complex assembly (GO:0033108)	3.57468333
21	positive regulation of gastrulation (GO:2000543)	3.48705328
22	presynaptic membrane assembly (GO:0097105)	3.46407848
23	protein neddylation (GO:0045116)	3.38866532
24	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.37192045
25	postsynaptic membrane organization (GO:0001941)	3.35324954
26	dopamine biosynthetic process (GO:0042416)	3.34553791
27	response to insecticide (GO:0017085)	3.34229895
28	midbrain development (GO:0030901)	3.31220559
29	synaptic transmission, cholinergic (GO:0007271)	3.31159175
30	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.30289276
31	regulation of timing of cell differentiation (GO:0048505)	3.29827193
32	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.29625921
33	dopaminergic neuron differentiation (GO:0071542)	3.28578724
34	negative regulation of astrocyte differentiation (GO:0048712)	3.20829883
35	positive regulation of synapse assembly (GO:0051965)	3.20791889
36	somite development (GO:0061053)	3.17203297
37	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.16105646
38	neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)	3.15960876
39	neuron cell-cell adhesion (GO:0007158)	3.15023830
40	fucose catabolic process (GO:0019317)	3.08770189
41	L-fucose metabolic process (GO:0042354)	3.08770189
42	L-fucose catabolic process (GO:0042355)	3.08770189
43	dorsal/ventral neural tube patterning (GO:0021904)	3.05582925
44	intestinal epithelial cell development (GO:0060576)	3.05208968
45	magnesium ion transport (GO:0015693)	3.04643393
46	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.98106183
47	somite rostral/caudal axis specification (GO:0032525)	2.96851113
48	sequestering of actin monomers (GO:0042989)	2.93503652
49	central nervous system projection neuron axonogenesis (GO:0021952)	2.92463970
50	regulation of interleukin-6 biosynthetic process (GO:0045408)	2.91939976
51	negative regulation of B cell proliferation (GO:0030889)	2.90090186
52	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	2.87080459
53	nucleobase catabolic process (GO:0046113)	2.86640668
54	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	2.85644823
55	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.84603708
56	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.84603708
57	fatty acid elongation (GO:0030497)	2.79039496
58	inner mitochondrial membrane organization (GO:0007007)	2.77277727
59	presynaptic membrane organization (GO:0097090)	2.76637288
60	interkinetic nuclear migration (GO:0022027)	2.76345440
61	regulation of development, heterochronic (GO:0040034)	2.74765992
62	intracellular protein transmembrane import (GO:0044743)	2.74211397
63	ATP synthesis coupled proton transport (GO:0015986)	2.74035364
64	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.74035364
65	pyrimidine nucleobase catabolic process (GO:0006208)	2.73486809
66	respiratory electron transport chain (GO:0022904)	2.73251563
67	electron transport chain (GO:0022900)	2.71718116
68	neuron fate specification (GO:0048665)	2.70780120
69	photoreceptor cell development (GO:0042461)	2.68512960
70	regulation of action potential (GO:0098900)	2.68112935
71	developmental pigmentation (GO:0048066)	2.67505889
72	pigmentation (GO:0043473)	2.63781502
73	resolution of meiotic recombination intermediates (GO:0000712)	2.61955533
74	regulation of neuron projection regeneration (GO:0070570)	2.59957465
75	regulation of axon regeneration (GO:0048679)	2.59957465
76	male sex determination (GO:0030238)	2.59488078
77	maternal behavior (GO:0042711)	2.59390473
78	lung-associated mesenchyme development (GO:0060484)	2.59374355
79	neuronal action potential propagation (GO:0019227)	2.58949198
80	sex differentiation (GO:0007548)	2.58540865
81	spinal cord motor neuron differentiation (GO:0021522)	2.57984853
82	single strand break repair (GO:0000012)	2.57761571
83	chaperone-mediated protein transport (GO:0072321)	2.56901493
84	establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)	2.56851167
85	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.56210991
86	positive regulation of sodium ion transmembrane transport (GO:1902307)	2.53370207
87	cochlea development (GO:0090102)	2.52395295
88	water-soluble vitamin biosynthetic process (GO:0042364)	2.51536833
89	neuron maturation (GO:0042551)	2.47957333
90	NAD biosynthetic process (GO:0009435)	2.47137859
91	DNA demethylation (GO:0080111)	2.46335657
92	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	2.46228712
93	positive regulation of respiratory burst (GO:0060267)	2.45950220
94	positive regulation of interleukin-8 secretion (GO:2000484)	2.45706442
95	indolalkylamine metabolic process (GO:0006586)	2.44622831
96	regulation of cAMP-dependent protein kinase activity (GO:2000479)	2.44560841
97	membrane depolarization during action potential (GO:0086010)	2.42183567
98	dendritic spine morphogenesis (GO:0060997)	2.39367961
99	indolalkylamine catabolic process (GO:0046218)	2.39244226
100	tryptophan catabolic process (GO:0006569)	2.39244226

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	7.90105404
2	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.49648284
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.87316888
4	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.83711741
5	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.80645147
6	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.71816717
7	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.45707778
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.39188745
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.35139902
10	VDR_22108803_ChIP-Seq_LS180_Human	2.32929615
11	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.16735703
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.09903587
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.02284781
14	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.95874846
15	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.88518365
16	FUS_26573619_Chip-Seq_HEK293_Human	1.79518389
17	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.75284131
18	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.75284131
19	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.73843664
20	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.70067174
21	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.70020135
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.69741640
23	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.65257826
24	P300_19829295_ChIP-Seq_ESCs_Human	1.61949469
25	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.56906223
26	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.55162981
27	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.54615171
28	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.52680209
29	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.51137375
30	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.50567348
31	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.50046142
32	REST_21632747_ChIP-Seq_MESCs_Mouse	1.49795914
33	HTT_18923047_ChIP-ChIP_STHdh_Human	1.46393777
34	RNF2_27304074_Chip-Seq_NSC_Mouse	1.46285043
35	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.45398405
36	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.43646751
37	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.43048866
38	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.42972718
39	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.40485118
40	AR_21572438_ChIP-Seq_LNCaP_Human	1.39432290
41	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.38142757
42	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.36416991
43	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.35312571
44	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.34898018
45	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.34797053
46	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.34397384
47	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.32186198
48	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.28809246
49	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.28703636
50	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.27786306
51	SMAD4_21799915_ChIP-Seq_A2780_Human	1.25948010
52	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.25873756
53	EWS_26573619_Chip-Seq_HEK293_Human	1.25696308
54	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.24466051
55	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.23935914
56	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.23856840
57	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.23672706
58	BCAT_22108803_ChIP-Seq_LS180_Human	1.22798169
59	SOX2_19829295_ChIP-Seq_ESCs_Human	1.22761696
60	NANOG_19829295_ChIP-Seq_ESCs_Human	1.22761696
61	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.21434683
62	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.20957680
63	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.20764705
64	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.19578459
65	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.19571598
66	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.19352951
67	TP53_22573176_ChIP-Seq_HFKS_Human	1.17490251
68	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.16571024
69	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.15028135
70	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.14682537
71	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.14335202
72	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.10878975
73	P53_22387025_ChIP-Seq_ESCs_Mouse	1.10878714
74	MYC_18940864_ChIP-ChIP_HL60_Human	1.10236765
75	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.10208090
76	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.10119625
77	TCF4_23295773_ChIP-Seq_U87_Human	1.09362536
78	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.09124208
79	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.07987294
80	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.06514132
81	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.06354402
82	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.06251546
83	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.05737272
84	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.04652447
85	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.03633264
86	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.01853895
87	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.01840856
88	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.01840542
89	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.01648472
90	CBP_20019798_ChIP-Seq_JUKART_Human	1.01648472
91	GATA1_26923725_Chip-Seq_HPCs_Mouse	0.99883193
92	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.99364269
93	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.99260465
94	STAT3_23295773_ChIP-Seq_U87_Human	0.99067278
95	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	0.97874020
96	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.94773787
97	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.94573136
98	P300_18555785_Chip-Seq_ESCs_Mouse	0.94010713
99	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.93923807
100	TCF4_22108803_ChIP-Seq_LS180_Human	0.93637565

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	9.30501282
2	MP0009379_abnormal_foot_pigmentation	5.77222635
3	MP0005423_abnormal_somatic_nervous	3.71252649
4	MP0000566_synostosis	3.43759306
5	MP0003880_abnormal_central_pattern	3.11089369
6	MP0003195_calcinosis	2.91551709
7	MP0005174_abnormal_tail_pigmentation	2.71118675
8	MP0002102_abnormal_ear_morphology	2.63912559
9	MP0002938_white_spotting	2.27334904
10	MP0001188_hyperpigmentation	1.90726006
11	MP0002095_abnormal_skin_pigmentation	1.83437900
12	MP0001905_abnormal_dopamine_level	1.83282800
13	MP0008877_abnormal_DNA_methylation	1.70478020
14	MP0001968_abnormal_touch/_nociception	1.65534767
15	MP0001529_abnormal_vocalization	1.63261577
16	MP0004742_abnormal_vestibular_system	1.61168405
17	MP0006292_abnormal_olfactory_placode	1.58320493
18	MP0005646_abnormal_pituitary_gland	1.55052725
19	MP0001986_abnormal_taste_sensitivity	1.54795924
20	MP0001485_abnormal_pinna_reflex	1.53318753
21	MP0004885_abnormal_endolymph	1.52455241
22	MP0001486_abnormal_startle_reflex	1.39854719
23	MP0004924_abnormal_behavior	1.39056821
24	MP0005386_behavior/neurological_phenoty	1.39056821
25	MP0003787_abnormal_imprinting	1.38764107
26	MP0003937_abnormal_limbs/digits/tail_de	1.37501661
27	MP0000049_abnormal_middle_ear	1.36991147
28	MP0000778_abnormal_nervous_system	1.36067554
29	MP0005187_abnormal_penis_morphology	1.35609807
30	MP0004133_heterotaxia	1.32439329
31	MP0002067_abnormal_sensory_capabilities	1.27352626
32	MP0000015_abnormal_ear_pigmentation	1.26141660
33	MP0002572_abnormal_emotion/affect_behav	1.26073926
34	MP0002653_abnormal_ependyma_morphology	1.22677520
35	MP0002272_abnormal_nervous_system	1.20526673
36	MP0005551_abnormal_eye_electrophysiolog	1.20489410
37	MP0003283_abnormal_digestive_organ	1.19759583
38	MP0001440_abnormal_grooming_behavior	1.19663343
39	MP0003567_abnormal_fetal_cardiomyocyte	1.19129199
40	MP0004142_abnormal_muscle_tone	1.17577222
41	MP0003890_abnormal_embryonic-extraembry	1.17235248
42	MP0002638_abnormal_pupillary_reflex	1.16689438
43	MP0003122_maternal_imprinting	1.15786222
44	MP0002184_abnormal_innervation	1.15138430
45	MP0006072_abnormal_retinal_apoptosis	1.14036685
46	MP0002277_abnormal_respiratory_mucosa	1.12865492
47	MP0009745_abnormal_behavioral_response	1.10234227
48	MP0002734_abnormal_mechanical_nocicepti	1.10012700
49	MP0003119_abnormal_digestive_system	1.06542161
50	MP0000026_abnormal_inner_ear	1.06424707
51	MP0003011_delayed_dark_adaptation	1.03819156
52	MP0000631_abnormal_neuroendocrine_gland	1.03504798
53	MP0003635_abnormal_synaptic_transmissio	1.03206316
54	MP0005075_abnormal_melanosome_morpholog	1.00468460
55	MP0001984_abnormal_olfaction	0.97852033
56	MP0002557_abnormal_social/conspecific_i	0.97574830
57	MP0001324_abnormal_eye_pigmentation	0.96785993
58	MP0002234_abnormal_pharynx_morphology	0.96606454
59	MP0005389_reproductive_system_phenotype	0.96221012
60	MP0000647_abnormal_sebaceous_gland	0.92858989
61	MP0002160_abnormal_reproductive_system	0.91946363
62	MP0005195_abnormal_posterior_eye	0.91263467
63	MP0005409_darkened_coat_color	0.89755909
64	MP0002751_abnormal_autonomic_nervous	0.87557879
65	MP0003121_genomic_imprinting	0.87338873
66	MP0005084_abnormal_gallbladder_morpholo	0.85634555
67	MP0002736_abnormal_nociception_after	0.85486449
68	MP0005253_abnormal_eye_physiology	0.85014923
69	MP0006276_abnormal_autonomic_nervous	0.84667839
70	MP0005410_abnormal_fertilization	0.83431890
71	MP0001919_abnormal_reproductive_system	0.81376755
72	MP0005394_taste/olfaction_phenotype	0.81115831
73	MP0005499_abnormal_olfactory_system	0.81115831
74	MP0001286_abnormal_eye_development	0.81002067
75	MP0002063_abnormal_learning/memory/cond	0.80866314
76	MP0003938_abnormal_ear_development	0.79417866
77	MP0003942_abnormal_urinary_system	0.78772147
78	MP0002752_abnormal_somatic_nervous	0.78023176
79	MP0002837_dystrophic_cardiac_calcinosis	0.77895544
80	MP0001963_abnormal_hearing_physiology	0.77442680
81	MP0000427_abnormal_hair_cycle	0.76727936
82	MP0001970_abnormal_pain_threshold	0.75962158
83	MP0005220_abnormal_exocrine_pancreas	0.75337998
84	MP0002735_abnormal_chemical_nociception	0.74774517
85	MP0002064_seizures	0.73629124
86	MP0002210_abnormal_sex_determination	0.72954715
87	MP0003136_yellow_coat_color	0.72332340
88	MP0002282_abnormal_trachea_morphology	0.71622122
89	MP0002928_abnormal_bile_duct	0.69109463
90	MP0001293_anophthalmia	0.68721589
91	MP0003698_abnormal_male_reproductive	0.68663134
92	MP0002109_abnormal_limb_morphology	0.68377566
93	MP0001944_abnormal_pancreas_morphology	0.67687852
94	MP0002733_abnormal_thermal_nociception	0.67563952
95	MP0008789_abnormal_olfactory_epithelium	0.66693532
96	MP0005377_hearing/vestibular/ear_phenot	0.66640729
97	MP0003878_abnormal_ear_physiology	0.66640729
98	MP0004270_analgesia	0.66367728
99	MP0008872_abnormal_physiological_respon	0.64859719
100	MP0002932_abnormal_joint_morphology	0.61084240

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypothermia (HP:0002045)	4.36392344
2	Acute necrotizing encephalopathy (HP:0006965)	4.00392486
3	Progressive macrocephaly (HP:0004481)	3.43564042
4	Acute encephalopathy (HP:0006846)	3.40703379
5	Colon cancer (HP:0003003)	3.37725528
6	Abnormal mitochondria in muscle tissue (HP:0008316)	3.22267912
7	Abnormality of the pons (HP:0007361)	3.04221585
8	Mitochondrial inheritance (HP:0001427)	3.03091626
9	Nephronophthisis (HP:0000090)	2.93909990
10	Acute lymphatic leukemia (HP:0006721)	2.88636168
11	Medial flaring of the eyebrow (HP:0010747)	2.85776187
12	Abnormality of midbrain morphology (HP:0002418)	2.83060357
13	Molar tooth sign on MRI (HP:0002419)	2.83060357
14	Hypoplasia of the pons (HP:0012110)	2.76327056
15	Amblyopia (HP:0000646)	2.67431200
16	Methylmalonic acidemia (HP:0002912)	2.58998842
17	Gaze-evoked nystagmus (HP:0000640)	2.58251860
18	Arthropathy (HP:0003040)	2.54515478
19	Increased CSF lactate (HP:0002490)	2.53741548
20	Abnormal drinking behavior (HP:0030082)	2.51130312
21	Polydipsia (HP:0001959)	2.51130312
22	Hyperventilation (HP:0002883)	2.50561280
23	Progressive inability to walk (HP:0002505)	2.49218635
24	Abnormality of cells of the erythroid lineage (HP:0012130)	2.48926104
25	Hemiparesis (HP:0001269)	2.45342235
26	Abnormal number of erythroid precursors (HP:0012131)	2.44199847
27	Abnormal number of incisors (HP:0011064)	2.39151444
28	Inability to walk (HP:0002540)	2.37772693
29	True hermaphroditism (HP:0010459)	2.34302807
30	Ketoacidosis (HP:0001993)	2.30905549
31	Humeroradial synostosis (HP:0003041)	2.29302907
32	Synostosis involving the elbow (HP:0003938)	2.29302907
33	Cerebral edema (HP:0002181)	2.29093912
34	Abnormality of the renal medulla (HP:0100957)	2.25650581
35	Large for gestational age (HP:0001520)	2.24991427
36	Bilateral microphthalmos (HP:0007633)	2.21634878
37	Gait imbalance (HP:0002141)	2.20081044
38	Polyphagia (HP:0002591)	2.16285143
39	Palpebral edema (HP:0100540)	2.15826671
40	Tachypnea (HP:0002789)	2.14442174
41	Hypomagnesemia (HP:0002917)	2.12297939
42	Shawl scrotum (HP:0000049)	2.12274670
43	Hepatocellular necrosis (HP:0001404)	2.11540122
44	Pancreatic cysts (HP:0001737)	2.11454612
45	Pancreatic fibrosis (HP:0100732)	2.10964682
46	Esotropia (HP:0000565)	2.09506761
47	Methylmalonic aciduria (HP:0012120)	2.08031491
48	Limb dystonia (HP:0002451)	2.07601947
49	Anophthalmia (HP:0000528)	2.06948041
50	Postaxial foot polydactyly (HP:0001830)	2.06428149
51	Epileptic encephalopathy (HP:0200134)	2.06393152
52	Focal motor seizures (HP:0011153)	2.04891059
53	Abnormal albumin level (HP:0012116)	2.03999642
54	Hypoalbuminemia (HP:0003073)	2.03999642
55	Absent/shortened dynein arms (HP:0200106)	2.03807524
56	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.03807524
57	Focal seizures (HP:0007359)	1.94524058
58	Hyperglycinemia (HP:0002154)	1.94218612
59	Renal Fanconi syndrome (HP:0001994)	1.93544978
60	Postaxial hand polydactyly (HP:0001162)	1.93434154
61	Febrile seizures (HP:0002373)	1.92653135
62	Increased hepatocellular lipid droplets (HP:0006565)	1.92650251
63	Congenital primary aphakia (HP:0007707)	1.92390884
64	Lipid accumulation in hepatocytes (HP:0006561)	1.86996562
65	Optic disc pallor (HP:0000543)	1.86825423
66	Hypsarrhythmia (HP:0002521)	1.86271117
67	Congenital, generalized hypertrichosis (HP:0004540)	1.84260610
68	Barrel-shaped chest (HP:0001552)	1.83931276
69	Abnormal respiratory epithelium morphology (HP:0012253)	1.81870671
70	Abnormal respiratory motile cilium morphology (HP:0005938)	1.81870671
71	Reticulocytopenia (HP:0001896)	1.81661951
72	Congenital stationary night blindness (HP:0007642)	1.80238452
73	Hepatic necrosis (HP:0002605)	1.79761029
74	Exertional dyspnea (HP:0002875)	1.79124314
75	Poor eye contact (HP:0000817)	1.78989893
76	Abnormality of binocular vision (HP:0011514)	1.78735875
77	Diplopia (HP:0000651)	1.78735875
78	Abnormality of the vertebral endplates (HP:0005106)	1.78619316
79	Tented upper lip vermilion (HP:0010804)	1.77548353
80	Lethargy (HP:0001254)	1.77385995
81	Periorbital edema (HP:0100539)	1.75845199
82	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.74986985
83	Vaginal atresia (HP:0000148)	1.72586046
84	EEG with generalized epileptiform discharges (HP:0011198)	1.71073952
85	Chronic hepatic failure (HP:0100626)	1.71041350
86	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.68030016
87	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.68030016
88	Genital tract atresia (HP:0001827)	1.67588480
89	Ketosis (HP:0001946)	1.66981620
90	Facial edema (HP:0000282)	1.66265759
91	Absent thumb (HP:0009777)	1.64942497
92	Epileptiform EEG discharges (HP:0011182)	1.64458015
93	3-Methylglutaconic aciduria (HP:0003535)	1.61223394
94	Maternal diabetes (HP:0009800)	1.61098779
95	Leukodystrophy (HP:0002415)	1.60703515
96	Abnormality of vitamin B metabolism (HP:0004340)	1.60173986
97	Narrow forehead (HP:0000341)	1.59995266
98	Polyuria (HP:0000103)	1.59778550
99	Scrotal hypoplasia (HP:0000046)	1.58744012
100	Prolonged QT interval (HP:0001657)	1.57904409

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PNCK	5.69687090
2	TNIK	4.63024944
3	TAF1	3.69349276
4	ERBB3	3.38227966
5	NTRK3	2.95327108
6	NTRK2	2.77549304
7	BMPR1B	2.70156169
8	INSRR	2.61846515
9	TXK	2.56845812
10	WEE1	2.42670343
11	FRK	2.38347562
12	WNK3	2.08175779
13	TNK2	1.92310451
14	NUAK1	1.77448660
15	PINK1	1.76629713
16	GRK1	1.72161165
17	MARK1	1.72113900
18	DYRK2	1.68845115
19	MAPK15	1.67240974
20	VRK2	1.65027706
21	CLK1	1.58090019
22	ERBB4	1.52456985
23	WNK4	1.47277794
24	MAPK13	1.46946320
25	TRIM28	1.31560537
26	TAOK3	1.26519948
27	MAP2K7	1.26263383
28	MKNK2	1.26021957
29	VRK1	1.22309886
30	ADRBK2	1.22085936
31	PRKCG	1.10850733
32	MAP3K4	1.10275952
33	DAPK2	1.02183954
34	ABL2	0.99350834
35	MUSK	0.98799163
36	ACVR1B	0.98553476
37	PAK3	0.95116804
38	TSSK6	0.92701578
39	TYRO3	0.92679721
40	OXSR1	0.87450740
41	BCKDK	0.83558918
42	CASK	0.81672600
43	MAP3K12	0.80651059
44	LIMK1	0.79518397
45	FGFR2	0.78694002
46	STK39	0.78036003
47	TLK1	0.77164560
48	PHKG1	0.75403239
49	PHKG2	0.75403239
50	GRK5	0.71663523
51	CSNK1G2	0.70564990
52	CSNK1A1L	0.68877020
53	CSNK1G1	0.68782224
54	TIE1	0.67416682
55	CSNK1G3	0.66442326
56	PLK2	0.66317146
57	CDC7	0.65823838
58	MKNK1	0.65328945
59	PIK3CA	0.63463041
60	MINK1	0.58243148
61	IRAK2	0.57756136
62	PLK3	0.54514162
63	BCR	0.53779823
64	STK11	0.50178037
65	MAP4K2	0.49221840
66	TEC	0.48408685
67	EPHB2	0.47817637
68	ZAK	0.43908381
69	PRKCE	0.43645779
70	IGF1R	0.43410519
71	WNK1	0.43245941
72	CSNK1A1	0.42334891
73	MAPKAPK5	0.40117411
74	UHMK1	0.39605161
75	DAPK1	0.38449401
76	PRKACA	0.36482552
77	ERBB2	0.35923111
78	PASK	0.34784393
79	SGK1	0.33673605
80	TGFBR1	0.33341515
81	BRD4	0.33301164
82	ADRBK1	0.32272863
83	CAMK2A	0.29237044
84	CSNK1E	0.29055560
85	PRKCQ	0.28828391
86	CHEK2	0.28526319
87	MST4	0.27714069
88	MAP2K2	0.26743119
89	PRKG1	0.25765857
90	SGK494	0.25751719
91	SGK223	0.25751719
92	OBSCN	0.25572313
93	PRKCH	0.23493605
94	SRPK1	0.23447687
95	PRKCI	0.23284038
96	ABL1	0.22915564
97	CHUK	0.22815802
98	CSNK1D	0.22230577
99	PRKCA	0.21221353
100	GSK3A	0.20201116

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.75150277
2	Parkinsons disease_Homo sapiens_hsa05012	3.40560662
3	Cardiac muscle contraction_Homo sapiens_hsa04260	2.81527158
4	Protein export_Homo sapiens_hsa03060	2.79787396
5	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.73140369
6	Ribosome_Homo sapiens_hsa03010	2.63374127
7	Alzheimers disease_Homo sapiens_hsa05010	2.38205752
8	Huntingtons disease_Homo sapiens_hsa05016	2.31357966
9	Basal transcription factors_Homo sapiens_hsa03022	2.25016771
10	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.22352431
11	Nicotine addiction_Homo sapiens_hsa05033	2.18192622
12	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.13470090
13	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.05777289
14	Caffeine metabolism_Homo sapiens_hsa00232	1.91813889
15	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.85820986
16	Fatty acid elongation_Homo sapiens_hsa00062	1.83933685
17	Phototransduction_Homo sapiens_hsa04744	1.81591161
18	Homologous recombination_Homo sapiens_hsa03440	1.72042133
19	Proteasome_Homo sapiens_hsa03050	1.67017331
20	Tryptophan metabolism_Homo sapiens_hsa00380	1.51479957
21	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.41249321
22	Taste transduction_Homo sapiens_hsa04742	1.36258012
23	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.34970774
24	Linoleic acid metabolism_Homo sapiens_hsa00591	1.31388297
25	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.28494689
26	Propanoate metabolism_Homo sapiens_hsa00640	1.27927353
27	Insulin secretion_Homo sapiens_hsa04911	1.24316725
28	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.23272548
29	Olfactory transduction_Homo sapiens_hsa04740	1.20585580
30	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.20434755
31	Retinol metabolism_Homo sapiens_hsa00830	1.19321781
32	GABAergic synapse_Homo sapiens_hsa04727	1.17817577
33	Serotonergic synapse_Homo sapiens_hsa04726	1.15849745
34	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.15672456
35	Morphine addiction_Homo sapiens_hsa05032	1.14485167
36	Nitrogen metabolism_Homo sapiens_hsa00910	1.07042539
37	Glutamatergic synapse_Homo sapiens_hsa04724	1.06761814
38	Dopaminergic synapse_Homo sapiens_hsa04728	1.05751085
39	Steroid biosynthesis_Homo sapiens_hsa00100	1.03185628
40	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.03081138
41	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.02887107
42	Fanconi anemia pathway_Homo sapiens_hsa03460	1.02820365
43	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.02094057
44	Peroxisome_Homo sapiens_hsa04146	0.98142476
45	Ether lipid metabolism_Homo sapiens_hsa00565	0.97906208
46	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.95548381
47	Regulation of autophagy_Homo sapiens_hsa04140	0.95329175
48	Circadian entrainment_Homo sapiens_hsa04713	0.92809222
49	Mismatch repair_Homo sapiens_hsa03430	0.92065627
50	RNA polymerase_Homo sapiens_hsa03020	0.90251428
51	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.89129347
52	Butanoate metabolism_Homo sapiens_hsa00650	0.88676404
53	Type I diabetes mellitus_Homo sapiens_hsa04940	0.86624887
54	RNA degradation_Homo sapiens_hsa03018	0.85248145
55	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.79534967
56	Collecting duct acid secretion_Homo sapiens_hsa04966	0.78909144
57	Asthma_Homo sapiens_hsa05310	0.73186401
58	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.69908739
59	Selenocompound metabolism_Homo sapiens_hsa00450	0.67153164
60	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.67031412
61	Mineral absorption_Homo sapiens_hsa04978	0.66394422
62	Folate biosynthesis_Homo sapiens_hsa00790	0.66351951
63	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.65665915
64	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.63594534
65	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.63125949
66	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.62940191
67	Basal cell carcinoma_Homo sapiens_hsa05217	0.62301125
68	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.61429637
69	Chemical carcinogenesis_Homo sapiens_hsa05204	0.61006333
70	Histidine metabolism_Homo sapiens_hsa00340	0.60740194
71	Cocaine addiction_Homo sapiens_hsa05030	0.60517384
72	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.60456861
73	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.60041619
74	Rheumatoid arthritis_Homo sapiens_hsa05323	0.58038268
75	Nucleotide excision repair_Homo sapiens_hsa03420	0.57181083
76	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.55301590
77	Metabolic pathways_Homo sapiens_hsa01100	0.53978635
78	Amphetamine addiction_Homo sapiens_hsa05031	0.53160256
79	Cholinergic synapse_Homo sapiens_hsa04725	0.52147184
80	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.51363560
81	Salivary secretion_Homo sapiens_hsa04970	0.48540873
82	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.48363428
83	One carbon pool by folate_Homo sapiens_hsa00670	0.47040883
84	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.42180328
85	Graft-versus-host disease_Homo sapiens_hsa05332	0.39912177
86	Purine metabolism_Homo sapiens_hsa00230	0.39156464
87	Primary immunodeficiency_Homo sapiens_hsa05340	0.38606291
88	Calcium signaling pathway_Homo sapiens_hsa04020	0.38360694
89	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.38145791
90	Fatty acid degradation_Homo sapiens_hsa00071	0.36319656
91	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.36000967
92	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.35802072
93	Axon guidance_Homo sapiens_hsa04360	0.35411459
94	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.34528590
95	Gastric acid secretion_Homo sapiens_hsa04971	0.34221578
96	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.33431222
97	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.31442745
98	Long-term depression_Homo sapiens_hsa04730	0.31342678
99	Wnt signaling pathway_Homo sapiens_hsa04310	0.29573893
100	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.29528684

SLC4A1APP1

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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