ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	retinal rod cell development (GO:0046548)	7.82247960
2	melanin biosynthetic process (GO:0042438)	6.69894606
3	synapsis (GO:0007129)	6.36976182
4	melanin metabolic process (GO:0006582)	5.92066298
5	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	5.87532308
6	secondary metabolite biosynthetic process (GO:0044550)	5.79322374
7	DNA synthesis involved in DNA repair (GO:0000731)	5.46103236
8	regulation of double-strand break repair via homologous recombination (GO:0010569)	4.95603959
9	telomere maintenance via telomerase (GO:0007004)	4.59394606
10	negative regulation of telomere maintenance (GO:0032205)	4.56965675
11	replication fork processing (GO:0031297)	4.56123971
12	regulation of cellular respiration (GO:0043457)	4.37310861
13	mannosylation (GO:0097502)	4.30606401
14	detection of light stimulus involved in visual perception (GO:0050908)	4.22219840
15	detection of light stimulus involved in sensory perception (GO:0050962)	4.22219840
16	negative regulation of phosphoprotein phosphatase activity (GO:0032515)	4.20537475
17	chromosome organization involved in meiosis (GO:0070192)	4.14046163
18	reciprocal meiotic recombination (GO:0007131)	4.11004894
19	reciprocal DNA recombination (GO:0035825)	4.11004894
20	regulation of mitotic spindle checkpoint (GO:1903504)	4.02430939
21	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	4.02430939
22	male meiosis (GO:0007140)	3.89732055
23	DNA replication checkpoint (GO:0000076)	3.87452984
24	kinetochore organization (GO:0051383)	3.85404565
25	kinetochore assembly (GO:0051382)	3.83274555
26	tachykinin receptor signaling pathway (GO:0007217)	3.74862851
27	piRNA metabolic process (GO:0034587)	3.74708435
28	male meiosis I (GO:0007141)	3.71997262
29	protein-chromophore linkage (GO:0018298)	3.67259958
30	regulation of DNA endoreduplication (GO:0032875)	3.64752513
31	proteasome assembly (GO:0043248)	3.63953096
32	protein-cofactor linkage (GO:0018065)	3.62214918
33	resolution of meiotic recombination intermediates (GO:0000712)	3.56412247
34	pigment biosynthetic process (GO:0046148)	3.48699905
35	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.47828563
36	RNA-dependent DNA replication (GO:0006278)	3.42985134
37	pigment metabolic process (GO:0042440)	3.42894312
38	histone exchange (GO:0043486)	3.42078235
39	respiratory electron transport chain (GO:0022904)	3.40859722
40	meiosis I (GO:0007127)	3.39744963
41	DNA methylation involved in gamete generation (GO:0043046)	3.38441034
42	ketone body metabolic process (GO:1902224)	3.37441040
43	electron transport chain (GO:0022900)	3.36784833
44	positive regulation of guanylate cyclase activity (GO:0031284)	3.36081640
45	eye photoreceptor cell development (GO:0042462)	3.33424235
46	proline transport (GO:0015824)	3.31828895
47	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	3.30850501
48	flavonoid metabolic process (GO:0009812)	3.28611157
49	double-strand break repair via homologous recombination (GO:0000724)	3.28289381
50	meiotic nuclear division (GO:0007126)	3.27836726
51	photoreceptor cell development (GO:0042461)	3.26347981
52	recombinational repair (GO:0000725)	3.26288956
53	response to epinephrine (GO:0071871)	3.14648647
54	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.14228530
55	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.14228530
56	negative regulation of DNA-dependent DNA replication (GO:2000104)	3.11741897
57	melanosome organization (GO:0032438)	3.11104487
58	regulation of guanylate cyclase activity (GO:0031282)	3.08497337
59	DNA double-strand break processing (GO:0000729)	3.07181191
60	respiratory chain complex IV assembly (GO:0008535)	3.04319352
61	L-serine metabolic process (GO:0006563)	3.03476798
62	DNA deamination (GO:0045006)	3.02903194
63	tricarboxylic acid cycle (GO:0006099)	3.01655256
64	meiotic chromosome segregation (GO:0045132)	2.99549037
65	telomere maintenance via telomere lengthening (GO:0010833)	2.97288142
66	intra-S DNA damage checkpoint (GO:0031573)	2.96322120
67	retinal cone cell development (GO:0046549)	2.96134758
68	fucose catabolic process (GO:0019317)	2.95570591
69	L-fucose metabolic process (GO:0042354)	2.95570591
70	L-fucose catabolic process (GO:0042355)	2.95570591
71	melanosome transport (GO:0032402)	2.92023493
72	meiotic cell cycle process (GO:1903046)	2.89493554
73	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.87403583
74	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.87352990
75	NADH dehydrogenase complex assembly (GO:0010257)	2.87352990
76	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.87352990
77	centriole replication (GO:0007099)	2.85330825
78	cellular response to thyroid hormone stimulus (GO:0097067)	2.85297845
79	developmental pigmentation (GO:0048066)	2.85051079
80	chromatin remodeling at centromere (GO:0031055)	2.85049550
81	pigment granule organization (GO:0048753)	2.84961325
82	cellular response to reactive nitrogen species (GO:1902170)	2.83903836
83	postreplication repair (GO:0006301)	2.83587943
84	CENP-A containing nucleosome assembly (GO:0034080)	2.82445741
85	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.81631830
86	pigment granule transport (GO:0051904)	2.80071222
87	sister chromatid cohesion (GO:0007062)	2.80055330
88	atrial cardiac muscle cell action potential (GO:0086014)	2.78632251
89	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.78312654
90	protein K6-linked ubiquitination (GO:0085020)	2.78022329
91	platelet dense granule organization (GO:0060155)	2.74997053
92	regulation of centriole replication (GO:0046599)	2.72527826
93	establishment of protein localization to mitochondrion (GO:0072655)	2.70069639
94	regulation of double-strand break repair (GO:2000779)	2.69193438
95	regulation of energy homeostasis (GO:2000505)	2.69083542
96	serine family amino acid catabolic process (GO:0009071)	2.67665416
97	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.67602574
98	positive regulation of protein homodimerization activity (GO:0090073)	2.67201019
99	establishment of melanosome localization (GO:0032401)	2.64934208
100	water-soluble vitamin biosynthetic process (GO:0042364)	2.64528416

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E2F7_22180533_ChIP-Seq_HELA_Human	8.38348700
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.23036983
3	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.25964046
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.12440906
5	E2F4_17652178_ChIP-ChIP_JURKAT_Human	3.02832432
6	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.95489796
7	ZNF274_21170338_ChIP-Seq_K562_Hela	2.83684607
8	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.63288107
9	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.44956412
10	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.41846053
11	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.40765984
12	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.36689348
13	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.23725119
14	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.22284162
15	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.07984054
16	VDR_22108803_ChIP-Seq_LS180_Human	2.05441906
17	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.01091080
18	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.00197657
19	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.98481203
20	ELK1_19687146_ChIP-ChIP_HELA_Human	1.88726135
21	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.86075015
22	GBX2_23144817_ChIP-Seq_PC3_Human	1.83252770
23	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.80030272
24	FOXP3_21729870_ChIP-Seq_TREG_Human	1.78267709
25	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.75503563
26	EZH2_22144423_ChIP-Seq_EOC_Human	1.73194708
27	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.72845493
28	GABP_19822575_ChIP-Seq_HepG2_Human	1.71938460
29	MYC_18940864_ChIP-ChIP_HL60_Human	1.70509274
30	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.70180113
31	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.68292371
32	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.66161628
33	VDR_23849224_ChIP-Seq_CD4+_Human	1.64699141
34	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.64067749
35	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.60217715
36	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.58844878
37	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.55540177
38	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.53980460
39	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.48593604
40	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.47139656
41	FUS_26573619_Chip-Seq_HEK293_Human	1.44507638
42	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.43722298
43	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.42995649
44	EWS_26573619_Chip-Seq_HEK293_Human	1.40281535
45	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.30350864
46	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.29795974
47	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.28029870
48	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.27975806
49	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.27921416
50	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.26411608
51	TP53_22573176_ChIP-Seq_HFKS_Human	1.24829677
52	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.24474911
53	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.24470227
54	IGF1R_20145208_ChIP-Seq_DFB_Human	1.24395126
55	ER_23166858_ChIP-Seq_MCF-7_Human	1.21784838
56	DCP1A_22483619_ChIP-Seq_HELA_Human	1.21515674
57	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.14851175
58	P300_19829295_ChIP-Seq_ESCs_Human	1.13254811
59	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.11116365
60	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.09844958
61	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.09585168
62	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.07729819
63	CBP_20019798_ChIP-Seq_JUKART_Human	1.07729819
64	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.07007655
65	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.05825213
66	NCOR_22424771_ChIP-Seq_293T_Human	1.04870798
67	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.02218007
68	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.01440198
69	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.01034354
70	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.00356610
71	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.00163522
72	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.99395064
73	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.99287700
74	MYCN_18555785_ChIP-Seq_MESCs_Mouse	0.96179739
75	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	0.93615802
76	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.93187300
77	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.90343693
78	GATA1_26923725_Chip-Seq_HPCs_Mouse	0.89468879
79	P53_21459846_ChIP-Seq_SAOS-2_Human	0.88858573
80	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.88310804
81	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	0.87797981
82	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.87689269
83	TTF2_22483619_ChIP-Seq_HELA_Human	0.87528745
84	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.87311607
85	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.86613000
86	ERG_20517297_ChIP-Seq_VCAP_Human	0.85545705
87	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.85260470
88	HOXB7_26014856_ChIP-Seq_BT474_Human	0.84541417
89	TCF4_22108803_ChIP-Seq_LS180_Human	0.84264935
90	RUNX2_22187159_ChIP-Seq_PCA_Human	0.82939211
91	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.82925416
92	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.82629314
93	NANOG_19829295_ChIP-Seq_ESCs_Human	0.81270812
94	SOX2_19829295_ChIP-Seq_ESCs_Human	0.81270812
95	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.80569690
96	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.80383722
97	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.79257177
98	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.79024720
99	JUN_21703547_ChIP-Seq_K562_Human	0.77240507
100	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.76852971

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000372_irregular_coat_pigmentation	6.89985538
2	MP0005408_hypopigmentation	4.29814792
3	MP0002102_abnormal_ear_morphology	4.23662269
4	MP0003646_muscle_fatigue	4.10556822
5	MP0003136_yellow_coat_color	4.02101741
6	MP0002822_catalepsy	3.89018335
7	MP0005171_absent_coat_pigmentation	3.53775158
8	MP0005075_abnormal_melanosome_morpholog	3.52093355
9	MP0010094_abnormal_chromosome_stability	2.72177785
10	MP0005551_abnormal_eye_electrophysiolog	2.58614724
11	MP0008058_abnormal_DNA_repair	2.50608320
12	MP0002095_abnormal_skin_pigmentation	2.43519080
13	MP0008877_abnormal_DNA_methylation	2.26351846
14	MP0002638_abnormal_pupillary_reflex	2.25578561
15	MP0001324_abnormal_eye_pigmentation	2.23416015
16	MP0001188_hyperpigmentation	2.14812906
17	MP0000371_diluted_coat_color	2.13675432
18	MP0009046_muscle_twitch	2.11062520
19	MP0004233_abnormal_muscle_weight	2.06342485
20	MP0002090_abnormal_vision	2.03703623
21	MP0000015_abnormal_ear_pigmentation	2.03508685
22	MP0002877_abnormal_melanocyte_morpholog	1.93925796
23	MP0004147_increased_porphyrin_level	1.93137183
24	MP0005253_abnormal_eye_physiology	1.92504509
25	MP0003786_premature_aging	1.80238756
26	MP0001485_abnormal_pinna_reflex	1.78714267
27	MP0002938_white_spotting	1.76880280
28	MP0003195_calcinosis	1.70489918
29	MP0003718_maternal_effect	1.69925075
30	MP0005174_abnormal_tail_pigmentation	1.69890292
31	MP0003111_abnormal_nucleus_morphology	1.68250483
32	MP0001529_abnormal_vocalization	1.67773674
33	MP0003693_abnormal_embryo_hatching	1.63076122
34	MP0000427_abnormal_hair_cycle	1.49595697
35	MP0008995_early_reproductive_senescence	1.49242262
36	MP0001486_abnormal_startle_reflex	1.47971936
37	MP0004924_abnormal_behavior	1.43113877
38	MP0005386_behavior/neurological_phenoty	1.43113877
39	MP0006036_abnormal_mitochondrial_physio	1.40668438
40	MP0004484_altered_response_of	1.34945497
41	MP0002736_abnormal_nociception_after	1.28009069
42	MP0004381_abnormal_hair_follicle	1.26755208
43	MP0002075_abnormal_coat/hair_pigmentati	1.25321696
44	MP0000749_muscle_degeneration	1.24141265
45	MP0001929_abnormal_gametogenesis	1.15082931
46	MP0002282_abnormal_trachea_morphology	1.12221818
47	MP0001186_pigmentation_phenotype	1.11650812
48	MP0009745_abnormal_behavioral_response	1.11582219
49	MP0005377_hearing/vestibular/ear_phenot	1.11462548
50	MP0003878_abnormal_ear_physiology	1.11462548
51	MP0002210_abnormal_sex_determination	1.11282653
52	MP0004142_abnormal_muscle_tone	1.09772584
53	MP0000751_myopathy	1.06278254
54	MP0005248_abnormal_Harderian_gland	1.05192704
55	MP0000647_abnormal_sebaceous_gland	1.02789258
56	MP0001501_abnormal_sleep_pattern	1.01519729
57	MP0003186_abnormal_redox_activity	0.99764795
58	MP0008007_abnormal_cellular_replicative	0.95313079
59	MP0002132_abnormal_respiratory_system	0.93581403
60	MP0000383_abnormal_hair_follicle	0.91037452
61	MP0005391_vision/eye_phenotype	0.90702480
62	MP0002229_neurodegeneration	0.88964762
63	MP0002272_abnormal_nervous_system	0.87499589
64	MP0003698_abnormal_male_reproductive	0.85935836
65	MP0001968_abnormal_touch/_nociception	0.85446396
66	MP0002064_seizures	0.84653321
67	MP0005085_abnormal_gallbladder_physiolo	0.82527971
68	MP0008775_abnormal_heart_ventricle	0.79968728
69	MP0001293_anophthalmia	0.78976916
70	MP0000678_abnormal_parathyroid_gland	0.78383346
71	MP0002653_abnormal_ependyma_morphology	0.77430654
72	MP0005195_abnormal_posterior_eye	0.75022697
73	MP0005197_abnormal_uvea_morphology	0.74949339
74	MP0000653_abnormal_sex_gland	0.73878758
75	MP0003937_abnormal_limbs/digits/tail_de	0.72957711
76	MP0003077_abnormal_cell_cycle	0.71913842
77	MP0001145_abnormal_male_reproductive	0.71137988
78	MP0005395_other_phenotype	0.68767940
79	MP0003890_abnormal_embryonic-extraembry	0.67675428
80	MP0004215_abnormal_myocardial_fiber	0.66971153
81	MP0006292_abnormal_olfactory_placode	0.66295135
82	MP0000747_muscle_weakness	0.63806543
83	MP0002572_abnormal_emotion/affect_behav	0.61800410
84	MP0001963_abnormal_hearing_physiology	0.61390161
85	MP0001119_abnormal_female_reproductive	0.61217736
86	MP0001905_abnormal_dopamine_level	0.60324382
87	MP0003806_abnormal_nucleotide_metabolis	0.59512786
88	MP0004885_abnormal_endolymph	0.59477693
89	MP0002160_abnormal_reproductive_system	0.56726605
90	MP0008932_abnormal_embryonic_tissue	0.56603156
91	MP0005389_reproductive_system_phenotype	0.54593200
92	MP0002067_abnormal_sensory_capabilities	0.54556896
93	MP0010678_abnormal_skin_adnexa	0.51483551
94	MP0000516_abnormal_urinary_system	0.50482461
95	MP0005367_renal/urinary_system_phenotyp	0.50482461
96	MP0004085_abnormal_heartbeat	0.50400408
97	MP0003137_abnormal_impulse_conducting	0.48688386
98	MP0002752_abnormal_somatic_nervous	0.48153685
99	MP0000631_abnormal_neuroendocrine_gland	0.47899943
100	MP0003880_abnormal_central_pattern	0.46731911

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Congenital stationary night blindness (HP:0007642)	8.86759464
2	Aplasia/Hypoplasia of the macula (HP:0008059)	6.59011755
3	Aplasia/Hypoplasia of the fovea (HP:0008060)	6.39098309
4	Hypoplasia of the fovea (HP:0007750)	6.39098309
5	Aplasia/Hypoplasia affecting the retina (HP:0008061)	6.12064848
6	Decreased central vision (HP:0007663)	5.53470000
7	Abnormality of the fovea (HP:0000493)	5.44117231
8	Abnormality of glycolysis (HP:0004366)	5.41667680
9	Amblyopia (HP:0000646)	4.92923970
10	Increased serum pyruvate (HP:0003542)	4.41044646
11	Ocular albinism (HP:0001107)	4.22107129
12	Severe visual impairment (HP:0001141)	4.06766892
13	Patchy hypopigmentation of hair (HP:0011365)	3.96762907
14	Iris hypopigmentation (HP:0007730)	3.90978300
15	Gaze-evoked nystagmus (HP:0000640)	3.87001400
16	Albinism (HP:0001022)	3.72537565
17	Chromosomal breakage induced by crosslinking agents (HP:0003221)	3.71305679
18	White forelock (HP:0002211)	3.70678868
19	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	3.70147758
20	Chromsome breakage (HP:0040012)	3.69877509
21	Generalized hypopigmentation (HP:0007513)	3.56179220
22	Blue irides (HP:0000635)	3.46346317
23	Type II lissencephaly (HP:0007260)	3.22454129
24	Retinal dysplasia (HP:0007973)	3.03023094
25	Birth length less than 3rd percentile (HP:0003561)	2.93102594
26	Acute necrotizing encephalopathy (HP:0006965)	2.90488253
27	Hypopigmentation of the fundus (HP:0007894)	2.88190416
28	Renal cortical cysts (HP:0000803)	2.80777039
29	Abnormal hair whorl (HP:0010721)	2.80713346
30	Hepatic necrosis (HP:0002605)	2.76121408
31	Abnormal rod and cone electroretinograms (HP:0008323)	2.72309322
32	Increased CSF lactate (HP:0002490)	2.71145743
33	Abnormality of macular pigmentation (HP:0008002)	2.70292365
34	Cholecystitis (HP:0001082)	2.69271805
35	Abnormal gallbladder physiology (HP:0012438)	2.69271805
36	Optic nerve hypoplasia (HP:0000609)	2.62138814
37	Abnormal mitochondria in muscle tissue (HP:0008316)	2.58659444
38	Aplastic anemia (HP:0001915)	2.58232135
39	Cutaneous melanoma (HP:0012056)	2.56335552
40	Horizontal nystagmus (HP:0000666)	2.54544006
41	Progressive macrocephaly (HP:0004481)	2.53949577
42	Acute encephalopathy (HP:0006846)	2.52529649
43	Astigmatism (HP:0000483)	2.51504135
44	Hepatocellular necrosis (HP:0001404)	2.47149713
45	Mitochondrial inheritance (HP:0001427)	2.44154578
46	Central scotoma (HP:0000603)	2.36140829
47	Increased serum lactate (HP:0002151)	2.34750164
48	Abnormality of alanine metabolism (HP:0010916)	2.28186356
49	Hyperalaninemia (HP:0003348)	2.28186356
50	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.28186356
51	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.26787617
52	Abnormality of chromosome stability (HP:0003220)	2.25256828
53	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.22601317
54	Adrenal hypoplasia (HP:0000835)	2.21574899
55	Tubulointerstitial nephritis (HP:0001970)	2.20279178
56	Meckel diverticulum (HP:0002245)	2.12907309
57	Small intestinal stenosis (HP:0012848)	2.12542914
58	Duodenal stenosis (HP:0100867)	2.12542914
59	Pancreatic cysts (HP:0001737)	2.11883588
60	Abnormality of the preputium (HP:0100587)	2.10522472
61	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.07906360
62	Attenuation of retinal blood vessels (HP:0007843)	2.07683526
63	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	2.05448882
64	Pancreatic fibrosis (HP:0100732)	2.05266449
65	Abnormality of the ileum (HP:0001549)	2.04118961
66	True hermaphroditism (HP:0010459)	1.95808620
67	Nephronophthisis (HP:0000090)	1.89132346
68	Abnormality of the renal cortex (HP:0011035)	1.88961998
69	Freckling (HP:0001480)	1.84820718
70	Pili torti (HP:0003777)	1.82669681
71	Degeneration of anterior horn cells (HP:0002398)	1.80504591
72	Abnormality of the anterior horn cell (HP:0006802)	1.80504591
73	Emotional lability (HP:0000712)	1.78935611
74	Optic disc pallor (HP:0000543)	1.78678238
75	Rib fusion (HP:0000902)	1.78675787
76	Progressive inability to walk (HP:0002505)	1.78630238
77	Sensory axonal neuropathy (HP:0003390)	1.77968261
78	Nausea (HP:0002018)	1.72882749
79	Small hand (HP:0200055)	1.72229479
80	Abnormality of the duodenum (HP:0002246)	1.69915467
81	Photophobia (HP:0000613)	1.69494275
82	Sloping forehead (HP:0000340)	1.69476408
83	Abnormal lung lobation (HP:0002101)	1.68333897
84	Oculomotor apraxia (HP:0000657)	1.68328563
85	Cerebral edema (HP:0002181)	1.66528496
86	Poor head control (HP:0002421)	1.65368137
87	Epidermoid cyst (HP:0200040)	1.64527772
88	Neoplasm of the small intestine (HP:0100833)	1.63263208
89	CNS demyelination (HP:0007305)	1.63160022
90	Upper limb muscle weakness (HP:0003484)	1.61062748
91	Peripheral hypomyelination (HP:0007182)	1.60774006
92	Abnormality of the labia minora (HP:0012880)	1.60328148
93	Abnormal hair laboratory examination (HP:0003328)	1.57484499
94	Hamartoma of the eye (HP:0010568)	1.56412898
95	Duplicated collecting system (HP:0000081)	1.55565356
96	Supernumerary spleens (HP:0009799)	1.52354066
97	Respiratory failure (HP:0002878)	1.51998685
98	Generalized aminoaciduria (HP:0002909)	1.51081646
99	Lactic acidosis (HP:0003128)	1.50271813
100	Generalized hypopigmentation of hair (HP:0011358)	1.49798383

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TRIM28	4.73850462
2	PDK2	4.52151405
3	EIF2AK1	4.06418058
4	SIK3	3.37821877
5	BRD4	3.11563011
6	BMPR1B	2.64553237
7	ACVR1B	2.61865693
8	CDC7	2.48858327
9	OXSR1	2.33521554
10	FRK	2.33384218
11	BCR	2.02194019
12	CDK19	1.99798442
13	WEE1	1.85297222
14	PLK4	1.74897801
15	MARK3	1.71941606
16	PNCK	1.65300705
17	NEK1	1.56151187
18	DYRK1A	1.53180170
19	CSNK1G3	1.45633003
20	CAMK1G	1.40530875
21	TYK2	1.35863979
22	KSR1	1.35404175
23	ADRBK2	1.33637053
24	CSNK1A1L	1.31156511
25	ZAK	1.30488219
26	MST4	1.30050028
27	ATR	1.24593408
28	CSNK1G2	1.19257253
29	CHEK2	1.18971238
30	CSNK1G1	1.16273041
31	NUAK1	1.12487746
32	PLK2	1.11507543
33	PTK2B	1.11353933
34	LATS1	1.10722720
35	CAMK1D	1.04619020
36	FER	1.04572789
37	PINK1	1.04428034
38	WNK3	1.04203749
39	TAOK3	1.01884884
40	CDK4	0.99847692
41	PLK3	0.99297566
42	MAPK13	0.98002795
43	TTK	0.95695153
44	MAP3K11	0.92794851
45	GRK1	0.90525525
46	PRKAA2	0.90495908
47	TSSK6	0.88554220
48	PAK3	0.87466976
49	CDK18	0.82222703
50	MAP4K2	0.82116719
51	ATM	0.81842078
52	BRSK2	0.80955557
53	PLK1	0.79578239
54	BUB1	0.79317571
55	AKT2	0.79156089
56	EPHA4	0.76585879
57	MAP3K12	0.75537131
58	ERBB3	0.74204339
59	MKNK2	0.73738837
60	CASK	0.72472093
61	FGR	0.71941305
62	VRK1	0.71068216
63	BRSK1	0.68643328
64	MET	0.63203030
65	PBK	0.63167156
66	CDK9	0.62271677
67	CSNK1D	0.62057955
68	MINK1	0.59841539
69	STK16	0.58157405
70	CAMK2A	0.57956249
71	CDK15	0.57465487
72	NTRK3	0.56302673
73	STK39	0.54333358
74	TLK1	0.53896901
75	CHEK1	0.53874394
76	CDK14	0.52467716
77	CDK1	0.51298311
78	CSNK1A1	0.51069256
79	CDK11A	0.50936270
80	NME1	0.50115510
81	STK3	0.48970674
82	MAP3K4	0.47807923
83	GRK5	0.47442317
84	CSNK1E	0.45195817
85	PRKCG	0.44926798
86	EGFR	0.42420609
87	MAPK10	0.41733924
88	PRKCI	0.41241831
89	MATK	0.40875086
90	SIK2	0.38795955
91	ADRBK1	0.38664389
92	CDK2	0.38237641
93	RPS6KB1	0.36124063
94	CSNK2A2	0.35579785
95	CAMK1	0.35549588
96	CSNK2A1	0.35144864
97	MST1R	0.33809081
98	PRKACA	0.33239065
99	GSK3B	0.32368665
100	PRKCB	0.32161169

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Homologous recombination_Homo sapiens_hsa03440	3.82606856
2	Non-homologous end-joining_Homo sapiens_hsa03450	3.25161359
3	Cyanoamino acid metabolism_Homo sapiens_hsa00460	3.05329658
4	Oxidative phosphorylation_Homo sapiens_hsa00190	3.04371684
5	Phototransduction_Homo sapiens_hsa04744	2.94655081
6	Protein export_Homo sapiens_hsa03060	2.53197732
7	Fanconi anemia pathway_Homo sapiens_hsa03460	2.50896450
8	Parkinsons disease_Homo sapiens_hsa05012	2.50755769
9	One carbon pool by folate_Homo sapiens_hsa00670	2.36291587
10	Proteasome_Homo sapiens_hsa03050	2.25657548
11	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.99710662
12	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.97193068
13	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.95223296
14	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.93781429
15	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.93643031
16	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.93047112
17	Huntingtons disease_Homo sapiens_hsa05016	1.92044960
18	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.91327877
19	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.87964343
20	Steroid biosynthesis_Homo sapiens_hsa00100	1.86282364
21	Basal transcription factors_Homo sapiens_hsa03022	1.81780799
22	Mismatch repair_Homo sapiens_hsa03430	1.77741971
23	Alzheimers disease_Homo sapiens_hsa05010	1.72457902
24	DNA replication_Homo sapiens_hsa03030	1.70803214
25	Spliceosome_Homo sapiens_hsa03040	1.68006814
26	RNA polymerase_Homo sapiens_hsa03020	1.55207188
27	RNA transport_Homo sapiens_hsa03013	1.46415861
28	Nucleotide excision repair_Homo sapiens_hsa03420	1.45437312
29	Propanoate metabolism_Homo sapiens_hsa00640	1.43303421
30	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.40384592
31	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.38366616
32	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.37775925
33	Base excision repair_Homo sapiens_hsa03410	1.35639026
34	RNA degradation_Homo sapiens_hsa03018	1.33014774
35	Cell cycle_Homo sapiens_hsa04110	1.25856565
36	Cardiac muscle contraction_Homo sapiens_hsa04260	1.25576282
37	Pyruvate metabolism_Homo sapiens_hsa00620	1.25465166
38	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.18524477
39	Sphingolipid metabolism_Homo sapiens_hsa00600	1.09322133
40	Folate biosynthesis_Homo sapiens_hsa00790	1.06213252
41	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.04336884
42	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.01498245
43	Collecting duct acid secretion_Homo sapiens_hsa04966	1.01257261
44	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.00539811
45	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.00415790
46	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.00224855
47	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.99532326
48	Selenocompound metabolism_Homo sapiens_hsa00450	0.98597160
49	Fatty acid elongation_Homo sapiens_hsa00062	0.98169079
50	Linoleic acid metabolism_Homo sapiens_hsa00591	0.97930520
51	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.97924687
52	Carbon metabolism_Homo sapiens_hsa01200	0.97441151
53	Pyrimidine metabolism_Homo sapiens_hsa00240	0.90385765
54	Pentose phosphate pathway_Homo sapiens_hsa00030	0.90305831
55	Metabolic pathways_Homo sapiens_hsa01100	0.88789735
56	Nitrogen metabolism_Homo sapiens_hsa00910	0.86152057
57	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.85940781
58	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.83103255
59	Oocyte meiosis_Homo sapiens_hsa04114	0.81608532
60	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.79229847
61	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.78339774
62	Butanoate metabolism_Homo sapiens_hsa00650	0.78293615
63	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.77511117
64	Sulfur relay system_Homo sapiens_hsa04122	0.76718079
65	Fatty acid metabolism_Homo sapiens_hsa01212	0.72823729
66	Fat digestion and absorption_Homo sapiens_hsa04975	0.70983902
67	Arginine and proline metabolism_Homo sapiens_hsa00330	0.68463731
68	Tyrosine metabolism_Homo sapiens_hsa00350	0.66506139
69	Purine metabolism_Homo sapiens_hsa00230	0.65189478
70	mRNA surveillance pathway_Homo sapiens_hsa03015	0.59371963
71	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.58745266
72	Olfactory transduction_Homo sapiens_hsa04740	0.58107357
73	Retinol metabolism_Homo sapiens_hsa00830	0.57262271
74	Sulfur metabolism_Homo sapiens_hsa00920	0.57100095
75	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.55948464
76	Circadian rhythm_Homo sapiens_hsa04710	0.53175770
77	Glutathione metabolism_Homo sapiens_hsa00480	0.51541113
78	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.50568637
79	GABAergic synapse_Homo sapiens_hsa04727	0.48794709
80	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.47302937
81	Arginine biosynthesis_Homo sapiens_hsa00220	0.46372834
82	Ether lipid metabolism_Homo sapiens_hsa00565	0.46358259
83	Tryptophan metabolism_Homo sapiens_hsa00380	0.44387127
84	Nicotine addiction_Homo sapiens_hsa05033	0.43507411
85	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.41760616
86	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.41129986
87	Morphine addiction_Homo sapiens_hsa05032	0.40973141
88	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.40337055
89	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.36719531
90	beta-Alanine metabolism_Homo sapiens_hsa00410	0.35913671
91	Taste transduction_Homo sapiens_hsa04742	0.33004272
92	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.32249326
93	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.32219688
94	p53 signaling pathway_Homo sapiens_hsa04115	0.32078368
95	Fatty acid degradation_Homo sapiens_hsa00071	0.31196784
96	Histidine metabolism_Homo sapiens_hsa00340	0.28670750
97	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.27838165
98	Caffeine metabolism_Homo sapiens_hsa00232	0.27200714
99	Other glycan degradation_Homo sapiens_hsa00511	0.22693103
100	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.21746988

RPS3AP3

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

Tissue Expression Export image »

Cell Line Expression Export image »