ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	establishment of protein localization to mitochondrial membrane (GO:0090151)	7.79839769
2	otic vesicle formation (GO:0030916)	7.34433466
3	chaperone-mediated protein transport (GO:0072321)	6.80508910
4	peptidyl-histidine modification (GO:0018202)	6.09146547
5	viral transcription (GO:0019083)	5.92044447
6	translational termination (GO:0006415)	5.79435672
7	artery smooth muscle contraction (GO:0014824)	5.60156212
8	serotonin receptor signaling pathway (GO:0007210)	5.44756659
9	ribosomal small subunit assembly (GO:0000028)	5.37851783
10	ribosomal large subunit biogenesis (GO:0042273)	5.10479911
11	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.07195860
12	tonic smooth muscle contraction (GO:0014820)	4.97296716
13	maturation of SSU-rRNA (GO:0030490)	4.96247836
14	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.87290381
15	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.87290381
16	NADH dehydrogenase complex assembly (GO:0010257)	4.87290381
17	ATP synthesis coupled proton transport (GO:0015986)	4.78957231
18	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.78957231
19	translational elongation (GO:0006414)	4.70855688
20	ribosomal small subunit biogenesis (GO:0042274)	4.69589802
21	intestinal epithelial cell development (GO:0060576)	4.68256062
22	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	4.64523020
23	cotranslational protein targeting to membrane (GO:0006613)	4.58248743
24	cardiac right ventricle morphogenesis (GO:0003215)	4.54083480
25	protein targeting to ER (GO:0045047)	4.52228982
26	protein complex biogenesis (GO:0070271)	4.43336882
27	cellular protein complex disassembly (GO:0043624)	4.38203750
28	viral life cycle (GO:0019058)	4.34332236
29	inner mitochondrial membrane organization (GO:0007007)	4.33647601
30	establishment of protein localization to endoplasmic reticulum (GO:0072599)	4.30009054
31	protein localization to endoplasmic reticulum (GO:0070972)	4.25918255
32	kidney mesenchyme development (GO:0072074)	4.23627998
33	electron transport chain (GO:0022900)	4.21408084
34	respiratory electron transport chain (GO:0022904)	4.19977419
35	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	4.17946255
36	transcription elongation from RNA polymerase III promoter (GO:0006385)	4.16792314
37	termination of RNA polymerase III transcription (GO:0006386)	4.16792314
38	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	4.14676101
39	translational initiation (GO:0006413)	4.05224551
40	maturation of 5.8S rRNA (GO:0000460)	4.04255434
41	negative regulation of striated muscle cell apoptotic process (GO:0010664)	4.00976095
42	mitochondrial respiratory chain complex assembly (GO:0033108)	4.00102812
43	hydrogen ion transmembrane transport (GO:1902600)	3.85621947
44	negative regulation of smooth muscle cell differentiation (GO:0051151)	3.85151126
45	regulation of mitochondrial translation (GO:0070129)	3.80626737
46	forebrain morphogenesis (GO:0048853)	3.78344109
47	positive regulation of heart rate (GO:0010460)	3.71801434
48	sulfation (GO:0051923)	3.67382555
49	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.66199273
50	regulation of cilium movement (GO:0003352)	3.63887025
51	behavioral response to nicotine (GO:0035095)	3.63021153
52	protein complex disassembly (GO:0043241)	3.60964102
53	negative regulation of telomerase activity (GO:0051974)	3.54522718
54	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.53938068
55	metanephric mesenchyme development (GO:0072075)	3.53292168
56	cellular component biogenesis (GO:0044085)	3.41518707
57	CENP-A containing nucleosome assembly (GO:0034080)	3.38791388
58	outer ear morphogenesis (GO:0042473)	3.35498656
59	protein-cofactor linkage (GO:0018065)	3.35118950
60	macromolecular complex disassembly (GO:0032984)	3.33388516
61	regulation of striated muscle cell apoptotic process (GO:0010662)	3.32662889
62	translation (GO:0006412)	3.31776729
63	sequestering of actin monomers (GO:0042989)	3.27263941
64	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.24713674
65	negative regulation of heart rate (GO:0010459)	3.23314690
66	phasic smooth muscle contraction (GO:0014821)	3.23279708
67	protein targeting to membrane (GO:0006612)	3.17265968
68	proton transport (GO:0015992)	3.16289948
69	ribonucleoprotein complex biogenesis (GO:0022613)	3.13649539
70	intracellular protein transmembrane import (GO:0044743)	3.13452757
71	chromatin remodeling at centromere (GO:0031055)	3.12662814
72	renal absorption (GO:0070293)	3.11949138
73	hydrogen transport (GO:0006818)	3.10796166
74	proteasome assembly (GO:0043248)	3.08210914
75	regulation of cardiac muscle cell apoptotic process (GO:0010665)	3.07481383
76	response to redox state (GO:0051775)	3.05951800
77	ventricular system development (GO:0021591)	3.02368218
78	nuclear-transcribed mRNA catabolic process (GO:0000956)	3.01500836
79	cochlea development (GO:0090102)	2.98027084
80	rRNA processing (GO:0006364)	2.96551971
81	regulation of transcription initiation from RNA polymerase II promoter (GO:0060260)	2.95633134
82	vascular smooth muscle contraction (GO:0014829)	2.94640408
83	pseudouridine synthesis (GO:0001522)	2.90118634
84	sexual reproduction (GO:0019953)	2.89818144
85	rRNA metabolic process (GO:0016072)	2.89481335
86	mRNA catabolic process (GO:0006402)	2.88446510
87	DNA replication checkpoint (GO:0000076)	2.88082639
88	ATP biosynthetic process (GO:0006754)	2.86575567
89	inositol phosphate-mediated signaling (GO:0048016)	2.85413361
90	establishment of protein localization to mitochondrion (GO:0072655)	2.84896839
91	somite development (GO:0061053)	2.82217671
92	protein localization to mitochondrion (GO:0070585)	2.80847168
93	regulation of mitotic spindle checkpoint (GO:1903504)	2.78715705
94	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.78715705
95	heart trabecula morphogenesis (GO:0061384)	2.78595355
96	RNA catabolic process (GO:0006401)	2.78203565
97	UTP metabolic process (GO:0046051)	2.76462645
98	Notch signaling involved in heart development (GO:0061314)	2.75866579
99	reciprocal meiotic recombination (GO:0007131)	2.75098687
100	reciprocal DNA recombination (GO:0035825)	2.75098687

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	5.07747427
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.75160297
3	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.70389881
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.67922424
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.60748685
6	MYC_18555785_ChIP-Seq_MESCs_Mouse	3.53468609
7	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.21939017
8	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.91848866
9	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.90969947
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.76472366
11	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.72744658
12	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.72458262
13	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.60017299
14	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.52577245
15	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.45085387
16	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.42715408
17	ELK1_19687146_ChIP-ChIP_HELA_Human	2.30915012
18	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.29818120
19	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	2.17014903
20	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	2.17014903
21	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	2.17014903
22	VDR_22108803_ChIP-Seq_LS180_Human	2.09926164
23	ZNF274_21170338_ChIP-Seq_K562_Hela	1.97352840
24	EWS_26573619_Chip-Seq_HEK293_Human	1.93614329
25	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.92928491
26	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.90255385
27	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.84886876
28	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.84802858
29	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.81846108
30	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.75132192
31	TTF2_22483619_ChIP-Seq_HELA_Human	1.69104190
32	VDR_23849224_ChIP-Seq_CD4+_Human	1.66731397
33	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.65476291
34	XRN2_22483619_ChIP-Seq_HELA_Human	1.51977502
35	DCP1A_22483619_ChIP-Seq_HELA_Human	1.49285215
36	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.47725848
37	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.44074664
38	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.40562301
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.40269985
40	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.38443550
41	FOXP3_21729870_ChIP-Seq_TREG_Human	1.36288810
42	BCAT_22108803_ChIP-Seq_LS180_Human	1.34405558
43	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.33484269
44	MYC_18940864_ChIP-ChIP_HL60_Human	1.32537845
45	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.30412137
46	TCF3_18692474_ChIP-Seq_MEFs_Mouse	1.29613358
47	E2F7_22180533_ChIP-Seq_HELA_Human	1.29559901
48	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.29433560
49	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.26966528
50	AR_20517297_ChIP-Seq_VCAP_Human	1.26749615
51	SOX2_18692474_ChIP-Seq_MEFs_Mouse	1.26157249
52	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.25218583
53	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.24311717
54	ERG_20517297_ChIP-Seq_VCAP_Human	1.21623426
55	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.20016488
56	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.17889246
57	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.16848427
58	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.15656683
59	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.15541969
60	ZIC3_20872845_ChIP-ChIP_MESCs_Mouse	1.14119751
61	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.14011492
62	P300_19829295_ChIP-Seq_ESCs_Human	1.12449414
63	TAF15_26573619_Chip-Seq_HEK293_Human	1.09827794
64	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.08948426
65	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	1.08870750
66	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.08737021
67	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.08006918
68	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.06956379
69	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.06500730
70	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.04352091
71	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.04127662
72	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.03973405
73	GABP_19822575_ChIP-Seq_HepG2_Human	1.03665589
74	SOX17_20123909_ChIP-Seq_XEN_Mouse	1.02611237
75	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.02018905
76	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.00786662
77	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97464406
78	NANOG_18358816_ChIP-ChIP_MESCs_Mouse	0.95842949
79	NANOG_18692474_ChIP-Seq_MEFs_Mouse	0.94905713
80	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.94351179
81	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	0.93729009
82	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.93122387
83	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.93104885
84	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.93028526
85	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.91476673
86	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.90848121
87	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.90848121
88	AR_21909140_ChIP-Seq_LNCAP_Human	0.90383906
89	SALL1_21062744_ChIP-ChIP_HESCs_Human	0.90129403
90	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.89477074
91	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	0.89088419
92	KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.88693393
93	ESR1_21235772_ChIP-Seq_MCF-7_Human	0.88084014
94	OCT4_18692474_ChIP-Seq_MEFs_Mouse	0.85935469
95	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.85181399
96	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.84472471
97	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.84439265
98	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	0.84075876
99	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.83181782
100	NACC1_18358816_ChIP-ChIP_MESCs_Mouse	0.81674467

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	7.89422145
2	MP0003136_yellow_coat_color	5.78994651
3	MP0002277_abnormal_respiratory_mucosa	5.16062711
4	MP0001485_abnormal_pinna_reflex	3.08883032
5	MP0009379_abnormal_foot_pigmentation	2.74517283
6	MP0002163_abnormal_gland_morphology	2.72845857
7	MP0001293_anophthalmia	2.57082611
8	MP0005377_hearing/vestibular/ear_phenot	2.56570699
9	MP0003878_abnormal_ear_physiology	2.56570699
10	MP0003938_abnormal_ear_development	2.11221788
11	MP0003186_abnormal_redox_activity	1.96520957
12	MP0000647_abnormal_sebaceous_gland	1.95382807
13	MP0002254_reproductive_system_inflammat	1.95302434
14	MP0003880_abnormal_central_pattern	1.86590525
15	MP0005423_abnormal_somatic_nervous	1.76199555
16	MP0003567_abnormal_fetal_cardiomyocyte	1.74497958
17	MP0006035_abnormal_mitochondrial_morpho	1.74044506
18	MP0002736_abnormal_nociception_after	1.73249406
19	MP0000372_irregular_coat_pigmentation	1.69681677
20	MP0005379_endocrine/exocrine_gland_phen	1.69445655
21	MP0004885_abnormal_endolymph	1.62620496
22	MP0009840_abnormal_foam_cell	1.59552331
23	MP0001346_abnormal_lacrimal_gland	1.56903472
24	MP0000631_abnormal_neuroendocrine_gland	1.53560356
25	MP0009384_cardiac_valve_regurgitation	1.49593380
26	MP0008789_abnormal_olfactory_epithelium	1.45654412
27	MP0002132_abnormal_respiratory_system	1.44825719
28	MP0004381_abnormal_hair_follicle	1.44106903
29	MP0002233_abnormal_nose_morphology	1.41164028
30	MP0003011_delayed_dark_adaptation	1.39260572
31	MP0001529_abnormal_vocalization	1.37961783
32	MP0001968_abnormal_touch/_nociception	1.37176591
33	MP0000537_abnormal_urethra_morphology	1.36421798
34	MP0002160_abnormal_reproductive_system	1.33159033
35	MP0008872_abnormal_physiological_respon	1.31294637
36	MP0003195_calcinosis	1.28470692
37	MP0002102_abnormal_ear_morphology	1.27919913
38	MP0005332_abnormal_amino_acid	1.24984578
39	MP0000566_synostosis	1.24650501
40	MP0008875_abnormal_xenobiotic_pharmacok	1.22899979
41	MP0000462_abnormal_digestive_system	1.20644695
42	MP0004957_abnormal_blastocyst_morpholog	1.15785839
43	MP0009053_abnormal_anal_canal	1.13257954
44	MP0000470_abnormal_stomach_morphology	1.12646637
45	MP0005670_abnormal_white_adipose	1.12102015
46	MP0005448_abnormal_energy_balance	1.09910078
47	MP0001986_abnormal_taste_sensitivity	1.07558012
48	MP0002127_abnormal_cardiovascular_syste	1.06640116
49	MP0000383_abnormal_hair_follicle	1.05488695
50	MP0005330_cardiomyopathy	1.02155976
51	MP0005085_abnormal_gallbladder_physiolo	1.01262887
52	MP0002697_abnormal_eye_size	0.99060325
53	MP0005394_taste/olfaction_phenotype	0.95804425
54	MP0005499_abnormal_olfactory_system	0.95804425
55	MP0001286_abnormal_eye_development	0.92828418
56	MP0000049_abnormal_middle_ear	0.92624440
57	MP0005595_abnormal_vascular_smooth	0.90905749
58	MP0002092_abnormal_eye_morphology	0.90622753
59	MP0001299_abnormal_eye_distance/	0.90224086
60	MP0002938_white_spotting	0.89509422
61	MP0000613_abnormal_salivary_gland	0.89260920
62	MP0003937_abnormal_limbs/digits/tail_de	0.86646039
63	MP0003119_abnormal_digestive_system	0.85479511
64	MP0005187_abnormal_penis_morphology	0.84757142
65	MP0000516_abnormal_urinary_system	0.83767599
66	MP0005367_renal/urinary_system_phenotyp	0.83767599
67	MP0005391_vision/eye_phenotype	0.83427514
68	MP0000749_muscle_degeneration	0.81909746
69	MP0000230_abnormal_systemic_arterial	0.81765545
70	MP0005075_abnormal_melanosome_morpholog	0.81704169
71	MP0005389_reproductive_system_phenotype	0.81477260
72	MP0005647_abnormal_sex_gland	0.81021458
73	MP0005551_abnormal_eye_electrophysiolog	0.77531915
74	MP0002837_dystrophic_cardiac_calcinosis	0.77057798
75	MP0002090_abnormal_vision	0.76804875
76	MP0002876_abnormal_thyroid_physiology	0.76498994
77	MP0004130_abnormal_muscle_cell	0.75927720
78	MP0001486_abnormal_startle_reflex	0.75267930
79	MP0000467_abnormal_esophagus_morphology	0.75191923
80	MP0002210_abnormal_sex_determination	0.73943729
81	MP0000490_abnormal_crypts_of	0.73035636
82	MP0005084_abnormal_gallbladder_morpholo	0.72029142
83	MP0008932_abnormal_embryonic_tissue	0.71525747
84	MP0005381_digestive/alimentary_phenotyp	0.70725971
85	MP0005195_abnormal_posterior_eye	0.70340759
86	MP0003693_abnormal_embryo_hatching	0.69795392
87	MP0000427_abnormal_hair_cycle	0.67561677
88	MP0002269_muscular_atrophy	0.66590965
89	MP0001324_abnormal_eye_pigmentation	0.63275931
90	MP0003806_abnormal_nucleotide_metabolis	0.62674752
91	MP0003942_abnormal_urinary_system	0.62183833
92	MP0005646_abnormal_pituitary_gland	0.61408060
93	MP0001666_abnormal_nutrient_absorption	0.61128598
94	MP0002752_abnormal_somatic_nervous	0.59496422
95	MP0000428_abnormal_craniofacial_morphol	0.59418569
96	MP0003941_abnormal_skin_development	0.59057319
97	MP0000358_abnormal_cell_content/	0.54643167
98	MP0001145_abnormal_male_reproductive	0.53649913
99	MP0001664_abnormal_digestion	0.53481438
100	MP0002085_abnormal_embryonic_tissue	0.53191074

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Septo-optic dysplasia (HP:0100842)	8.52072890
2	Maternal diabetes (HP:0009800)	4.81872739
3	Optic nerve hypoplasia (HP:0000609)	4.64730964
4	Absent septum pellucidum (HP:0001331)	4.62726887
5	Concave nail (HP:0001598)	4.25493694
6	Hepatocellular necrosis (HP:0001404)	4.23156674
7	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	4.14334255
8	Abnormality of the septum pellucidum (HP:0007375)	3.96901990
9	Congenital, generalized hypertrichosis (HP:0004540)	3.91127361
10	Hepatic necrosis (HP:0002605)	3.90134643
11	Mitochondrial inheritance (HP:0001427)	3.79721135
12	Abnormal number of erythroid precursors (HP:0012131)	3.67480175
13	Abnormality of cells of the erythroid lineage (HP:0012130)	3.60310170
14	Oral leukoplakia (HP:0002745)	3.53207076
15	Acute necrotizing encephalopathy (HP:0006965)	3.43426105
16	Generalized aminoaciduria (HP:0002909)	3.27683861
17	Increased CSF lactate (HP:0002490)	3.23263071
18	Abolished electroretinogram (ERG) (HP:0000550)	3.19213588
19	Abnormal number of incisors (HP:0011064)	3.01371288
20	Septate vagina (HP:0001153)	2.97406465
21	Abnormal mitochondria in muscle tissue (HP:0008316)	2.97018779
22	Type I diabetes mellitus (HP:0100651)	2.96223742
23	Decreased central vision (HP:0007663)	2.95393037
24	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.93201222
25	Posterior subcapsular cataract (HP:0007787)	2.90147263
26	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	2.85969511
27	Macrocytic anemia (HP:0001972)	2.75182696
28	Progressive macrocephaly (HP:0004481)	2.73771008
29	Acute encephalopathy (HP:0006846)	2.67268900
30	Pendular nystagmus (HP:0012043)	2.63115614
31	Increased serum lactate (HP:0002151)	2.60874435
32	Microretrognathia (HP:0000308)	2.57809442
33	Increased hepatocellular lipid droplets (HP:0006565)	2.57103805
34	Cone-rod dystrophy (HP:0000548)	2.45395693
35	Optic nerve coloboma (HP:0000588)	2.44729907
36	Rectal fistula (HP:0100590)	2.44633899
37	Rectovaginal fistula (HP:0000143)	2.44633899
38	Optic disc pallor (HP:0000543)	2.43359158
39	Respiratory difficulties (HP:0002880)	2.33028703
40	Abnormal rod and cone electroretinograms (HP:0008323)	2.31744273
41	Renal Fanconi syndrome (HP:0001994)	2.25971995
42	Lipid accumulation in hepatocytes (HP:0006561)	2.19224475
43	Cerebral edema (HP:0002181)	2.18581852
44	Scotoma (HP:0000575)	2.16213704
45	Type II lissencephaly (HP:0007260)	2.15356060
46	Breast aplasia (HP:0100783)	2.12708158
47	Vaginal fistula (HP:0004320)	2.12611002
48	Midline defect of the nose (HP:0004122)	2.11573890
49	Amelogenesis imperfecta (HP:0000705)	2.05146508
50	Chorioretinal atrophy (HP:0000533)	2.03130152
51	Sclerocornea (HP:0000647)	2.02689458
52	Intestinal fistula (HP:0100819)	2.00030077
53	Focal segmental glomerulosclerosis (HP:0000097)	1.99640015
54	Respiratory failure (HP:0002878)	1.99334159
55	Lactic acidosis (HP:0003128)	1.98064856
56	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.96909350
57	Tracheoesophageal fistula (HP:0002575)	1.95429584
58	Abnormality of the parathyroid morphology (HP:0011766)	1.95126333
59	Hyperalaninemia (HP:0003348)	1.93076459
60	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.93076459
61	Abnormality of alanine metabolism (HP:0010916)	1.93076459
62	Renal tubular dysfunction (HP:0000124)	1.92631660
63	Confusion (HP:0001289)	1.92309447
64	Supernumerary bones of the axial skeleton (HP:0009144)	1.91748486
65	Hypoplastic left heart (HP:0004383)	1.91199536
66	Abnormality of the diencephalon (HP:0010662)	1.91131527
67	Keratoconus (HP:0000563)	1.90496563
68	Increased corneal curvature (HP:0100692)	1.90496563
69	Constricted visual fields (HP:0001133)	1.89383998
70	Abnormality of the pons (HP:0007361)	1.88793104
71	True hermaphroditism (HP:0010459)	1.88385737
72	Hypoplasia of the pons (HP:0012110)	1.87978378
73	Prenatal maternal abnormality (HP:0002686)	1.86045238
74	Renal tubular acidosis (HP:0001947)	1.85288455
75	Aplasia/Hypoplasia of the breasts (HP:0010311)	1.82628692
76	Increased serum pyruvate (HP:0003542)	1.82193654
77	Limb dystonia (HP:0002451)	1.82099613
78	Esophageal atresia (HP:0002032)	1.82075999
79	Leukodystrophy (HP:0002415)	1.81383408
80	Partial duplication of thumb phalanx (HP:0009944)	1.80408106
81	Central scotoma (HP:0000603)	1.80360248
82	Submucous cleft hard palate (HP:0000176)	1.79843033
83	3-Methylglutaconic aciduria (HP:0003535)	1.79821772
84	Stenosis of the external auditory canal (HP:0000402)	1.78791273
85	Glycosuria (HP:0003076)	1.77603525
86	Abnormality of urine glucose concentration (HP:0011016)	1.77603525
87	Pallor (HP:0000980)	1.76526492
88	Conical tooth (HP:0000698)	1.73265401
89	Abnormality of the parietal bone (HP:0002696)	1.73235868
90	Sparse eyelashes (HP:0000653)	1.73003172
91	Abnormality of small intestinal villus morphology (HP:0011472)	1.72576800
92	Villous atrophy (HP:0011473)	1.72576800
93	Polydipsia (HP:0001959)	1.72192626
94	Abnormal drinking behavior (HP:0030082)	1.72192626
95	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.70981349
96	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.70981349
97	Hyperglycemia (HP:0003074)	1.69605006
98	Pancreatic cysts (HP:0001737)	1.69501904
99	Molar tooth sign on MRI (HP:0002419)	1.67970839
100	Abnormality of midbrain morphology (HP:0002418)	1.67970839

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAF1	4.96962118
2	MST4	4.74197391
3	VRK2	3.71867512
4	WNK4	3.42253113
5	CASK	3.32987983
6	EPHA4	3.29587660
7	STK39	3.08245334
8	OXSR1	2.72913481
9	PBK	2.60580271
10	WEE1	2.45012157
11	PNCK	2.22499605
12	CDK19	2.16293004
13	NME1	2.12484743
14	ADRBK2	2.04239631
15	GRK1	1.86155606
16	SRPK1	1.73430649
17	MAP3K10	1.72300991
18	VRK1	1.71403141
19	CDC7	1.71365046
20	EPHA2	1.57930284
21	DYRK1B	1.53837387
22	TNIK	1.52534876
23	PDK2	1.49276119
24	TLK1	1.45736100
25	MAP3K12	1.26407464
26	RPS6KB2	1.23944829
27	NME2	1.23316792
28	ILK	1.22597113
29	MAPK15	1.14897532
30	BRSK2	1.13332129
31	NUAK1	1.12436831
32	BUB1	1.03810456
33	DAPK1	1.02496419
34	ABL2	0.99612617
35	PASK	0.99589689
36	MYLK	0.93879450
37	ZAK	0.84651498
38	PIK3CA	0.81485961
39	AURKB	0.80416993
40	STK4	0.80360729
41	PRKCE	0.78937100
42	NEK2	0.77334878
43	MAP2K4	0.76185221
44	LIMK1	0.75294868
45	DAPK3	0.74441160
46	IRAK4	0.72368783
47	PLK1	0.70746346
48	GRK6	0.70613687
49	PRKG2	0.69219336
50	ADRBK1	0.68510790
51	BMPR2	0.67895479
52	TSSK6	0.66947606
53	STK38	0.66235425
54	PLK4	0.65026173
55	CHEK2	0.61864064
56	LATS1	0.61693293
57	FGFR1	0.61316523
58	MAPKAPK3	0.58401359
59	AURKA	0.56566000
60	NEK1	0.55949399
61	ERBB4	0.55909889
62	TGFBR1	0.55241342
63	SMG1	0.55114628
64	MAP2K2	0.54887015
65	BCKDK	0.54142891
66	CSNK2A1	0.51706971
67	DYRK3	0.47927595
68	PRKCD	0.47868727
69	DYRK2	0.47685239
70	PINK1	0.45088126
71	NTRK3	0.44403471
72	MAPKAPK5	0.43275865
73	PAK4	0.43094978
74	PRKCG	0.42277401
75	NLK	0.41683723
76	MAP3K11	0.40858969
77	MATK	0.39569207
78	PRKG1	0.38330232
79	CSNK2A2	0.37918480
80	PLK3	0.37857974
81	MAP2K6	0.37298742
82	INSRR	0.37114824
83	CDK7	0.36660941
84	PAK2	0.36651042
85	IKBKB	0.35379082
86	MAP2K7	0.34594183
87	PRKCA	0.34434032
88	KDR	0.33613085
89	CSNK1A1	0.31873527
90	PRKACA	0.31840389
91	MUSK	0.31567842
92	LMTK2	0.31158901
93	CSNK1E	0.30415629
94	RPS6KA5	0.29833638
95	GRK5	0.29241773
96	PRKCZ	0.28519536
97	CDK4	0.28407225
98	OBSCN	0.28134071
99	BMPR1B	0.26705962
100	KIT	0.25636576

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	5.80955277
2	Oxidative phosphorylation_Homo sapiens_hsa00190	4.61344989
3	Parkinsons disease_Homo sapiens_hsa05012	3.64545415
4	Proteasome_Homo sapiens_hsa03050	3.40827250
5	Selenocompound metabolism_Homo sapiens_hsa00450	2.93259178
6	Cardiac muscle contraction_Homo sapiens_hsa04260	2.76425715
7	Huntingtons disease_Homo sapiens_hsa05016	2.73109551
8	DNA replication_Homo sapiens_hsa03030	2.54204940
9	Collecting duct acid secretion_Homo sapiens_hsa04966	2.52099858
10	RNA polymerase_Homo sapiens_hsa03020	2.42710536
11	Alzheimers disease_Homo sapiens_hsa05010	2.33334705
12	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.32568795
13	Homologous recombination_Homo sapiens_hsa03440	2.16806811
14	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.99086142
15	Taste transduction_Homo sapiens_hsa04742	1.83922523
16	Basal transcription factors_Homo sapiens_hsa03022	1.80704218
17	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.79941082
18	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.72706994
19	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.70340019
20	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.69765394
21	Mismatch repair_Homo sapiens_hsa03430	1.69518484
22	Pyrimidine metabolism_Homo sapiens_hsa00240	1.46341799
23	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.44098194
24	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.33501233
25	Purine metabolism_Homo sapiens_hsa00230	1.26123092
26	One carbon pool by folate_Homo sapiens_hsa00670	1.18678851
27	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.18477822
28	RNA degradation_Homo sapiens_hsa03018	1.17406446
29	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.14816232
30	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.14610064
31	Retinol metabolism_Homo sapiens_hsa00830	1.12465916
32	Base excision repair_Homo sapiens_hsa03410	1.11543958
33	Chemical carcinogenesis_Homo sapiens_hsa05204	1.07770914
34	Spliceosome_Homo sapiens_hsa03040	1.05538216
35	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.97689210
36	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.96922789
37	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.96271457
38	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.93128823
39	Linoleic acid metabolism_Homo sapiens_hsa00591	0.92581000
40	Sulfur metabolism_Homo sapiens_hsa00920	0.92303424
41	RNA transport_Homo sapiens_hsa03013	0.92084531
42	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.89828982
43	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.84935621
44	Fatty acid degradation_Homo sapiens_hsa00071	0.80510288
45	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.78150038
46	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.76015532
47	Protein digestion and absorption_Homo sapiens_hsa04974	0.75646621
48	Tyrosine metabolism_Homo sapiens_hsa00350	0.69686680
49	Folate biosynthesis_Homo sapiens_hsa00790	0.69442494
50	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.68181964
51	Metabolic pathways_Homo sapiens_hsa01100	0.66534731
52	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.63423362
53	Nucleotide excision repair_Homo sapiens_hsa03420	0.62229695
54	Serotonergic synapse_Homo sapiens_hsa04726	0.62055421
55	Vibrio cholerae infection_Homo sapiens_hsa05110	0.60027321
56	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.58877722
57	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.58810107
58	Tryptophan metabolism_Homo sapiens_hsa00380	0.58475299
59	Olfactory transduction_Homo sapiens_hsa04740	0.57670427
60	Fatty acid elongation_Homo sapiens_hsa00062	0.57336773
61	Bile secretion_Homo sapiens_hsa04976	0.54616305
62	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.53114675
63	Morphine addiction_Homo sapiens_hsa05032	0.53056703
64	Glutathione metabolism_Homo sapiens_hsa00480	0.52648389
65	Caffeine metabolism_Homo sapiens_hsa00232	0.51632508
66	Histidine metabolism_Homo sapiens_hsa00340	0.51498877
67	Rheumatoid arthritis_Homo sapiens_hsa05323	0.50264322
68	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.49979361
69	Basal cell carcinoma_Homo sapiens_hsa05217	0.46587990
70	Nitrogen metabolism_Homo sapiens_hsa00910	0.44749426
71	Pyruvate metabolism_Homo sapiens_hsa00620	0.44545024
72	Propanoate metabolism_Homo sapiens_hsa00640	0.44013722
73	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.43406463
74	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.43188657
75	Primary immunodeficiency_Homo sapiens_hsa05340	0.42356865
76	Pancreatic secretion_Homo sapiens_hsa04972	0.42355612
77	Phototransduction_Homo sapiens_hsa04744	0.38654919
78	Peroxisome_Homo sapiens_hsa04146	0.38297589
79	Tight junction_Homo sapiens_hsa04530	0.38149410
80	Fat digestion and absorption_Homo sapiens_hsa04975	0.37857654
81	Nicotine addiction_Homo sapiens_hsa05033	0.36572011
82	beta-Alanine metabolism_Homo sapiens_hsa00410	0.35318075
83	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.33769469
84	Arginine and proline metabolism_Homo sapiens_hsa00330	0.32711610
85	Renin-angiotensin system_Homo sapiens_hsa04614	0.28965769
86	Ether lipid metabolism_Homo sapiens_hsa00565	0.27960324
87	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.24269821
88	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.22716485
89	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.22482764
90	ABC transporters_Homo sapiens_hsa02010	0.22095363
91	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.21746761
92	Galactose metabolism_Homo sapiens_hsa00052	0.21617454
93	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.17697437
94	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.16869229
95	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.16766636
96	Mineral absorption_Homo sapiens_hsa04978	0.16631452
97	Asthma_Homo sapiens_hsa05310	0.15699823
98	Sulfur relay system_Homo sapiens_hsa04122	0.14739244
99	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.14564639
100	Fanconi anemia pathway_Homo sapiens_hsa03460	0.13870379

KRT18P51

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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