ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	motile cilium assembly (GO:0044458)	7.51738769
2	cilium or flagellum-dependent cell motility (GO:0001539)	6.87869950
3	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	6.20751408
4	retinal cone cell development (GO:0046549)	5.93765605
5	cilium movement (GO:0003341)	5.50752078
6	regulation of cilium movement (GO:0003352)	5.39461168
7	axoneme assembly (GO:0035082)	5.04659518
8	retinal rod cell development (GO:0046548)	4.78756666
9	epithelial cilium movement (GO:0003351)	4.76747386
10	axonemal dynein complex assembly (GO:0070286)	4.76550465
11	response to pheromone (GO:0019236)	4.45997700
12	protein neddylation (GO:0045116)	4.44895807
13	water-soluble vitamin biosynthetic process (GO:0042364)	4.44073689
14	chaperone-mediated protein transport (GO:0072321)	4.42652850
15	cytochrome complex assembly (GO:0017004)	3.89271786
16	DNA deamination (GO:0045006)	3.88636654
17	peptidyl-histidine modification (GO:0018202)	3.82582381
18	intraciliary transport (GO:0042073)	3.80936251
19	protein complex biogenesis (GO:0070271)	3.69356512
20	resolution of meiotic recombination intermediates (GO:0000712)	3.49573351
21	regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)	3.49283685
22	GTP biosynthetic process (GO:0006183)	3.48325018
23	DNA damage response, detection of DNA damage (GO:0042769)	3.42626427
24	ubiquinone metabolic process (GO:0006743)	3.41874722
25	ventricular system development (GO:0021591)	3.41554468
26	mitochondrial respiratory chain complex assembly (GO:0033108)	3.39582547
27	mannosylation (GO:0097502)	3.39462092
28	adaptation of signaling pathway (GO:0023058)	3.37191840
29	respiratory chain complex IV assembly (GO:0008535)	3.33964247
30	left/right pattern formation (GO:0060972)	3.32947827
31	ubiquinone biosynthetic process (GO:0006744)	3.29076740
32	protein localization to cilium (GO:0061512)	3.26203709
33	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.25853897
34	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.24967617
35	regulation of microtubule-based movement (GO:0060632)	3.23703952
36	photoreceptor cell maintenance (GO:0045494)	3.20523767
37	preassembly of GPI anchor in ER membrane (GO:0016254)	3.20384441
38	photoreceptor cell development (GO:0042461)	3.19706378
39	cilium organization (GO:0044782)	3.12870585
40	oxidative demethylation (GO:0070989)	3.06395817
41	parturition (GO:0007567)	3.05961252
42	eye photoreceptor cell development (GO:0042462)	3.05242466
43	organelle disassembly (GO:1903008)	3.05156110
44	negative regulation of synaptic transmission, GABAergic (GO:0032229)	3.04670039
45	protein deneddylation (GO:0000338)	3.04300116
46	proteasome assembly (GO:0043248)	3.03698208
47	behavioral response to nicotine (GO:0035095)	3.02933762
48	negative regulation of membrane potential (GO:0045837)	2.99152899
49	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.98433038
50	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.98433038
51	cilium morphogenesis (GO:0060271)	2.95770947
52	microtubule severing (GO:0051013)	2.95373639
53	regulation of mitochondrial translation (GO:0070129)	2.94885357
54	kynurenine metabolic process (GO:0070189)	2.94626981
55	rRNA modification (GO:0000154)	2.94102262
56	iron-sulfur cluster assembly (GO:0016226)	2.93017968
57	metallo-sulfur cluster assembly (GO:0031163)	2.93017968
58	DNA demethylation (GO:0080111)	2.88215532
59	NADH dehydrogenase complex assembly (GO:0010257)	2.87279137
60	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.87279137
61	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.87279137
62	UTP biosynthetic process (GO:0006228)	2.79340363
63	cilium assembly (GO:0042384)	2.77438259
64	centriole assembly (GO:0098534)	2.75351113
65	GPI anchor metabolic process (GO:0006505)	2.73845546
66	isoprenoid biosynthetic process (GO:0008299)	2.70642326
67	signal peptide processing (GO:0006465)	2.70465436
68	quinone biosynthetic process (GO:1901663)	2.68589728
69	left/right axis specification (GO:0070986)	2.66533209
70	sequestering of actin monomers (GO:0042989)	2.65773098
71	C-terminal protein amino acid modification (GO:0018410)	2.59766467
72	nucleoside diphosphate phosphorylation (GO:0006165)	2.59724177
73	platelet dense granule organization (GO:0060155)	2.59423048
74	indole-containing compound catabolic process (GO:0042436)	2.59132435
75	indolalkylamine catabolic process (GO:0046218)	2.59132435
76	tryptophan catabolic process (GO:0006569)	2.59132435
77	phasic smooth muscle contraction (GO:0014821)	2.58803788
78	UTP metabolic process (GO:0046051)	2.56959443
79	ribonucleoprotein complex disassembly (GO:0032988)	2.54261882
80	DNA dealkylation (GO:0035510)	2.54156500
81	microtubule bundle formation (GO:0001578)	2.54149283
82	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.53841497
83	vitamin biosynthetic process (GO:0009110)	2.52843393
84	somite development (GO:0061053)	2.52790850
85	regulation of hippo signaling (GO:0035330)	2.52420046
86	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.51024028
87	oxidative phosphorylation (GO:0006119)	2.46769163
88	cGMP biosynthetic process (GO:0006182)	2.45924257
89	regulation of respiratory system process (GO:0044065)	2.45684243
90	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.44559574
91	C-terminal protein lipidation (GO:0006501)	2.43943352
92	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.43259617
93	regulation of mitotic spindle checkpoint (GO:1903504)	2.43259617
94	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.43011759
95	pyrimidine nucleobase catabolic process (GO:0006208)	2.40814903
96	tRNA processing (GO:0008033)	2.40448043
97	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.35719828
98	indolalkylamine metabolic process (GO:0006586)	2.35219574
99	regulation of heat generation (GO:0031650)	2.34995677
100	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.34730902

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	IGF1R_20145208_ChIP-Seq_DFB_Human	3.65338426
2	VDR_22108803_ChIP-Seq_LS180_Human	3.40417977
3	FLI1_27457419_Chip-Seq_LIVER_Mouse	3.20004439
4	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.91420048
5	ZNF274_21170338_ChIP-Seq_K562_Hela	2.83228113
6	TAF15_26573619_Chip-Seq_HEK293_Human	2.68086244
7	EWS_26573619_Chip-Seq_HEK293_Human	2.58389498
8	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.53853135
9	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.53493743
10	GBX2_23144817_ChIP-Seq_PC3_Human	2.49677917
11	BP1_19119308_ChIP-ChIP_Hs578T_Human	2.45405151
12	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.41870787
13	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.35141448
14	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.31018116
15	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.27406206
16	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.04888080
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.96809979
18	TP53_22573176_ChIP-Seq_HFKS_Human	1.96044275
19	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.87888563
20	EZH2_22144423_ChIP-Seq_EOC_Human	1.87583339
21	FUS_26573619_Chip-Seq_HEK293_Human	1.83910165
22	P300_19829295_ChIP-Seq_ESCs_Human	1.79748015
23	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.79433313
24	CBP_20019798_ChIP-Seq_JUKART_Human	1.79433313
25	VDR_23849224_ChIP-Seq_CD4+_Human	1.71362085
26	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.68593997
27	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.67841769
28	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.66882624
29	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.66787689
30	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.65416174
31	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.65023100
32	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.63222293
33	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.58708950
34	AR_21572438_ChIP-Seq_LNCaP_Human	1.58284281
35	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.51832861
36	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.50917777
37	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.48327202
38	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.47731651
39	ELK1_19687146_ChIP-ChIP_HELA_Human	1.44956874
40	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.41634181
41	ER_23166858_ChIP-Seq_MCF-7_Human	1.41190678
42	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.40165212
43	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.39292137
44	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.38816725
45	FOXP3_21729870_ChIP-Seq_TREG_Human	1.38126506
46	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.36196896
47	MYC_18940864_ChIP-ChIP_HL60_Human	1.36149543
48	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.35835144
49	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.34396515
50	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.31155741
51	TCF4_22108803_ChIP-Seq_LS180_Human	1.31147711
52	SMAD4_21799915_ChIP-Seq_A2780_Human	1.30901246
53	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.29955021
54	NANOG_19829295_ChIP-Seq_ESCs_Human	1.28010825
55	SOX2_19829295_ChIP-Seq_ESCs_Human	1.28010825
56	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.27951688
57	RNF2_27304074_Chip-Seq_NSC_Mouse	1.27798873
58	NCOR_22424771_ChIP-Seq_293T_Human	1.27703865
59	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.26030220
60	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.24588010
61	P53_22387025_ChIP-Seq_ESCs_Mouse	1.24513541
62	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.23513054
63	STAT3_23295773_ChIP-Seq_U87_Human	1.23408312
64	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.23199180
65	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.21302128
66	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.21262011
67	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.20943951
68	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.20122792
69	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.18875823
70	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.18223591
71	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.16270450
72	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.16270450
73	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.16221795
74	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.15683087
75	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.13709825
76	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.13654808
77	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.13602331
78	TCF4_23295773_ChIP-Seq_U87_Human	1.13505260
79	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.12858612
80	ERG_20517297_ChIP-Seq_VCAP_Human	1.11028808
81	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.10478720
82	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.10031514
83	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.09044748
84	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.08697025
85	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.06054791
86	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.05290411
87	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.05284177
88	IRF1_19129219_ChIP-ChIP_H3396_Human	1.05125482
89	REST_21632747_ChIP-Seq_MESCs_Mouse	1.04246873
90	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.04164614
91	RUNX2_22187159_ChIP-Seq_PCA_Human	1.04153697
92	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.04109199
93	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.02846852
94	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.99478927
95	P300_18555785_Chip-Seq_ESCs_Mouse	0.99330730
96	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.98293554
97	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.98291770
98	SOX2_18555785_Chip-Seq_ESCs_Mouse	0.98136223
99	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.97282356
100	BCAT_22108803_ChIP-Seq_LS180_Human	0.97140710

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001529_abnormal_vocalization	3.85991435
2	MP0002822_catalepsy	3.21888061
3	MP0003880_abnormal_central_pattern	3.16733123
4	MP0000569_abnormal_digit_pigmentation	2.83550498
5	MP0005423_abnormal_somatic_nervous	2.82692870
6	MP0005646_abnormal_pituitary_gland	2.68550454
7	MP0002102_abnormal_ear_morphology	2.66684498
8	MP0008995_early_reproductive_senescence	2.55296060
9	MP0001188_hyperpigmentation	2.33035392
10	MP0005551_abnormal_eye_electrophysiolog	2.31034869
11	MP0002653_abnormal_ependyma_morphology	2.17235248
12	MP0004043_abnormal_pH_regulation	2.07723194
13	MP0008877_abnormal_DNA_methylation	2.05445567
14	MP0005253_abnormal_eye_physiology	2.02693626
15	MP0003786_premature_aging	1.94789829
16	MP0002234_abnormal_pharynx_morphology	1.89194679
17	MP0003195_calcinosis	1.84528576
18	MP0005167_abnormal_blood-brain_barrier	1.83572276
19	MP0000631_abnormal_neuroendocrine_gland	1.76582188
20	MP0008875_abnormal_xenobiotic_pharmacok	1.76179684
21	MP0006276_abnormal_autonomic_nervous	1.69900276
22	MP0008789_abnormal_olfactory_epithelium	1.69523363
23	MP0009046_muscle_twitch	1.67356226
24	MP0010368_abnormal_lymphatic_system	1.67187960
25	MP0004133_heterotaxia	1.65223909
26	MP0008872_abnormal_physiological_respon	1.63160133
27	MP0004142_abnormal_muscle_tone	1.55042592
28	MP0002751_abnormal_autonomic_nervous	1.54742384
29	MP0003121_genomic_imprinting	1.51829008
30	MP0001873_stomach_inflammation	1.48654760
31	MP0001984_abnormal_olfaction	1.46804597
32	MP0006292_abnormal_olfactory_placode	1.46428448
33	MP0009745_abnormal_behavioral_response	1.38576674
34	MP0004145_abnormal_muscle_electrophysio	1.38390686
35	MP0001968_abnormal_touch/_nociception	1.33829763
36	MP0005645_abnormal_hypothalamus_physiol	1.31627042
37	MP0001905_abnormal_dopamine_level	1.25437901
38	MP0003122_maternal_imprinting	1.20188045
39	MP0002160_abnormal_reproductive_system	1.17236793
40	MP0001970_abnormal_pain_threshold	1.16438074
41	MP0002557_abnormal_social/conspecific_i	1.15829320
42	MP0005085_abnormal_gallbladder_physiolo	1.15614922
43	MP0001485_abnormal_pinna_reflex	1.15505905
44	MP0003866_abnormal_defecation	1.14705429
45	MP0005499_abnormal_olfactory_system	1.14136910
46	MP0005394_taste/olfaction_phenotype	1.14136910
47	MP0003787_abnormal_imprinting	1.12608527
48	MP0003635_abnormal_synaptic_transmissio	1.11702784
49	MP0000639_abnormal_adrenal_gland	1.11622852
50	MP0002733_abnormal_thermal_nociception	1.11358597
51	MP0010386_abnormal_urinary_bladder	1.09711552
52	MP0002277_abnormal_respiratory_mucosa	1.06301286
53	MP0002272_abnormal_nervous_system	1.05943645
54	MP0002909_abnormal_adrenal_gland	1.05391120
55	MP0005386_behavior/neurological_phenoty	1.04855091
56	MP0004924_abnormal_behavior	1.04855091
57	MP0004885_abnormal_endolymph	1.03630096
58	MP0005671_abnormal_response_to	1.03330432
59	MP0006072_abnormal_retinal_apoptosis	1.03320876
60	MP0000427_abnormal_hair_cycle	1.02841579
61	MP0003123_paternal_imprinting	1.01979401
62	MP0002572_abnormal_emotion/affect_behav	1.01936468
63	MP0002736_abnormal_nociception_after	1.00888494
64	MP0005623_abnormal_meninges_morphology	1.00035955
65	MP0003252_abnormal_bile_duct	0.99777383
66	MP0002928_abnormal_bile_duct	0.99056321
67	MP0001293_anophthalmia	0.98304624
68	MP0004782_abnormal_surfactant_physiolog	0.96724957
69	MP0002064_seizures	0.95380610
70	MP0002184_abnormal_innervation	0.95312636
71	MP0001440_abnormal_grooming_behavior	0.95298161
72	MP0005083_abnormal_biliary_tract	0.94759915
73	MP0001502_abnormal_circadian_rhythm	0.94501937
74	MP0005195_abnormal_posterior_eye	0.94187701
75	MP0009384_cardiac_valve_regurgitation	0.93397827
76	MP0001764_abnormal_homeostasis	0.92346131
77	MP0001835_abnormal_antigen_presentation	0.90858403
78	MP0001486_abnormal_startle_reflex	0.88482082
79	MP0002752_abnormal_somatic_nervous	0.87936978
80	MP0002735_abnormal_chemical_nociception	0.87161121
81	MP0009764_decreased_sensitivity_to	0.86492719
82	MP0003646_muscle_fatigue	0.85543943
83	MP0002837_dystrophic_cardiac_calcinosis	0.84636762
84	MP0002638_abnormal_pupillary_reflex	0.83963453
85	MP0006035_abnormal_mitochondrial_morpho	0.83960999
86	MP0002233_abnormal_nose_morphology	0.82280448
87	MP0005391_vision/eye_phenotype	0.82110549
88	MP0000049_abnormal_middle_ear	0.80795068
89	MP0002138_abnormal_hepatobiliary_system	0.80279010
90	MP0003119_abnormal_digestive_system	0.80216591
91	MP0001501_abnormal_sleep_pattern	0.78424027
92	MP0003718_maternal_effect	0.77963760
93	MP0004859_abnormal_synaptic_plasticity	0.77863668
94	MP0009765_abnormal_xenobiotic_induced	0.77369324
95	MP0005389_reproductive_system_phenotype	0.75783791
96	MP0002229_neurodegeneration	0.75343156
97	MP0002063_abnormal_learning/memory/cond	0.75223306
98	MP0000778_abnormal_nervous_system	0.73907602
99	MP0004811_abnormal_neuron_physiology	0.73395331
100	MP0003567_abnormal_fetal_cardiomyocyte	0.71279834

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Absent rod-and cone-mediated responses on ERG (HP:0007688)	6.43137430
2	Absent/shortened dynein arms (HP:0200106)	6.39034003
3	Dynein arm defect of respiratory motile cilia (HP:0012255)	6.39034003
4	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	5.45694557
5	Abnormal ciliary motility (HP:0012262)	4.65236248
6	Abnormal respiratory motile cilium physiology (HP:0012261)	4.53395691
7	Abnormal rod and cone electroretinograms (HP:0008323)	4.48035673
8	Chronic bronchitis (HP:0004469)	4.33374588
9	Abnormal respiratory motile cilium morphology (HP:0005938)	4.22134395
10	Abnormal respiratory epithelium morphology (HP:0012253)	4.22134395
11	Renal cortical cysts (HP:0000803)	3.76790627
12	Chronic hepatic failure (HP:0100626)	3.59693612
13	True hermaphroditism (HP:0010459)	3.54492914
14	Nephronophthisis (HP:0000090)	3.47465505
15	Tubulointerstitial nephritis (HP:0001970)	3.46344098
16	Abnormality of the renal medulla (HP:0100957)	3.29332569
17	Congenital stationary night blindness (HP:0007642)	3.25706881
18	Abnormality of the renal cortex (HP:0011035)	3.19179528
19	Rhinitis (HP:0012384)	3.14536726
20	Pancreatic fibrosis (HP:0100732)	3.13859891
21	Abolished electroretinogram (ERG) (HP:0000550)	3.05682981
22	Pancreatic cysts (HP:0001737)	2.97049515
23	Constricted visual fields (HP:0001133)	2.94222248
24	Medial flaring of the eyebrow (HP:0010747)	2.86734936
25	Hyperglycinemia (HP:0002154)	2.82846336
26	Type 2 muscle fiber atrophy (HP:0003554)	2.79907027
27	3-Methylglutaconic aciduria (HP:0003535)	2.79226042
28	Type II lissencephaly (HP:0007260)	2.76585054
29	Occipital encephalocele (HP:0002085)	2.69709371
30	Molar tooth sign on MRI (HP:0002419)	2.44809846
31	Abnormality of midbrain morphology (HP:0002418)	2.44809846
32	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.42809306
33	Abnormality of alanine metabolism (HP:0010916)	2.42809306
34	Hyperalaninemia (HP:0003348)	2.42809306
35	Acute necrotizing encephalopathy (HP:0006965)	2.42070427
36	Mitochondrial inheritance (HP:0001427)	2.41673742
37	Hepatocellular necrosis (HP:0001404)	2.35826454
38	Hepatic necrosis (HP:0002605)	2.35642282
39	Inability to walk (HP:0002540)	2.35274105
40	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.34107092
41	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.34107092
42	Increased IgM level (HP:0003496)	2.33259603
43	Enlarged kidneys (HP:0000105)	2.31772721
44	Hyperventilation (HP:0002883)	2.26817660
45	Bony spicule pigmentary retinopathy (HP:0007737)	2.26297563
46	Acute encephalopathy (HP:0006846)	2.24370937
47	Muscle fiber atrophy (HP:0100295)	2.24226160
48	Sclerocornea (HP:0000647)	2.22246162
49	Abnormal mitochondria in muscle tissue (HP:0008316)	2.22194161
50	Progressive inability to walk (HP:0002505)	2.18792747
51	Bronchitis (HP:0012387)	2.18739261
52	Stomatitis (HP:0010280)	2.17046639
53	Gait imbalance (HP:0002141)	2.16951955
54	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.16894903
55	Methylmalonic acidemia (HP:0002912)	2.12829948
56	Methylmalonic aciduria (HP:0012120)	2.12509221
57	Congenital primary aphakia (HP:0007707)	2.12388862
58	Bronchiectasis (HP:0002110)	2.10962352
59	Retinal dysplasia (HP:0007973)	2.10582378
60	Increased CSF lactate (HP:0002490)	2.07926922
61	Tubulointerstitial abnormality (HP:0001969)	2.06831415
62	Asplenia (HP:0001746)	2.06018414
63	Male pseudohermaphroditism (HP:0000037)	2.02778655
64	Lissencephaly (HP:0001339)	2.00847519
65	Abnormality of the corticospinal tract (HP:0002492)	1.98636419
66	Dyschromatopsia (HP:0007641)	1.98488060
67	Nephrogenic diabetes insipidus (HP:0009806)	1.97290870
68	Cystic liver disease (HP:0006706)	1.96854457
69	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.96662149
70	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.96662149
71	Progressive macrocephaly (HP:0004481)	1.94780284
72	Abnormality of glycine metabolism (HP:0010895)	1.91224453
73	Abnormality of serine family amino acid metabolism (HP:0010894)	1.91224453
74	Macular degeneration (HP:0000608)	1.89076287
75	Adrenal hypoplasia (HP:0000835)	1.83887735
76	Hyperglycinuria (HP:0003108)	1.83686037
77	Febrile seizures (HP:0002373)	1.83428379
78	Congenital hepatic fibrosis (HP:0002612)	1.82582772
79	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.81783908
80	Cerebellar dysplasia (HP:0007033)	1.80976541
81	Attenuation of retinal blood vessels (HP:0007843)	1.80433772
82	Abnormal biliary tract physiology (HP:0012439)	1.80074053
83	Bile duct proliferation (HP:0001408)	1.80074053
84	Optic disc pallor (HP:0000543)	1.79262201
85	Increased serum lactate (HP:0002151)	1.78010379
86	Supernumerary spleens (HP:0009799)	1.77722563
87	Broad-based gait (HP:0002136)	1.76007832
88	Delayed CNS myelination (HP:0002188)	1.75857332
89	Postaxial foot polydactyly (HP:0001830)	1.75710666
90	Abnormal hair whorl (HP:0010721)	1.71563288
91	Generalized aminoaciduria (HP:0002909)	1.70334733
92	Aplasia/hypoplasia of the uterus (HP:0008684)	1.70293543
93	Cheilitis (HP:0100825)	1.70043071
94	Lactic acidosis (HP:0003128)	1.69636400
95	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.69073198
96	Vaginal atresia (HP:0000148)	1.68773450
97	Neonatal respiratory distress (HP:0002643)	1.66921653
98	Retinitis pigmentosa (HP:0000510)	1.66796249
99	Decreased circulating renin level (HP:0003351)	1.64838548
100	Abnormality of serum amino acid levels (HP:0003112)	1.63766983

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TIE1	4.81995454
2	BCR	4.37289776
3	TXK	3.64610502
4	MAP4K2	3.44746864
5	TAOK3	3.41703692
6	BCKDK	3.09822875
7	TRIM28	2.77274471
8	AKT3	2.49139044
9	GRK1	2.46133496
10	WNK4	2.05262289
11	BMPR1B	2.00177318
12	PINK1	1.96230099
13	FRK	1.93012292
14	ACVR1B	1.82574425
15	INSRR	1.65056273
16	WNK3	1.62190201
17	CSNK1A1L	1.57725780
18	ERBB3	1.57496486
19	ADRBK2	1.54355381
20	NUAK1	1.52853742
21	CSNK1G2	1.47766373
22	SIK3	1.44616491
23	BRAF	1.36250081
24	CSNK1G3	1.33117518
25	CAMKK2	1.27031251
26	MAP2K7	1.26815532
27	TEC	1.23556649
28	TYK2	1.20645504
29	TLK1	1.18763416
30	OXSR1	1.12753018
31	STK16	1.12461506
32	EPHA4	1.06989922
33	DYRK2	1.02540725
34	SGK2	1.02418011
35	CSNK1G1	1.00863036
36	MAP3K4	0.95468891
37	VRK1	0.94750000
38	SGK494	0.89353521
39	SGK223	0.89353521
40	MINK1	0.84993330
41	ITK	0.82378262
42	DAPK2	0.80725673
43	STK39	0.80424116
44	RPS6KA5	0.77411336
45	KIT	0.76148869
46	DYRK3	0.75466242
47	FES	0.75075720
48	CDK19	0.74155919
49	VRK2	0.73302153
50	NTRK2	0.71442562
51	NME1	0.70260926
52	IKBKE	0.70033925
53	CASK	0.66970262
54	PAK3	0.66345277
55	MST4	0.65103187
56	PAK6	0.64072985
57	PRKCG	0.61466374
58	MARK1	0.61211748
59	RPS6KA4	0.61029824
60	LMTK2	0.59427561
61	ZAK	0.58973029
62	MAPK15	0.56936709
63	MAP2K6	0.55684454
64	CAMK2A	0.53806899
65	UHMK1	0.52461580
66	IKBKB	0.50160489
67	EIF2AK1	0.48273052
68	PRKCE	0.47039620
69	PRKCQ	0.45794979
70	MUSK	0.45766452
71	GRK5	0.45394163
72	TGFBR2	0.44862668
73	CSNK1A1	0.43539344
74	WNK1	0.42503052
75	DAPK1	0.41996976
76	CAMK1	0.41647803
77	IGF1R	0.41571020
78	EIF2AK3	0.41531819
79	MAPKAPK3	0.38617521
80	SRPK1	0.38543667
81	TGFBR1	0.38304381
82	EGFR	0.37315454
83	PHKG2	0.35761440
84	PHKG1	0.35761440
85	PRKG2	0.33101191
86	PRKACA	0.32901596
87	MKNK1	0.32249813
88	ATM	0.32248713
89	PIK3CA	0.32139508
90	ADRBK1	0.32111839
91	CSNK1D	0.31388456
92	ABL1	0.31158563
93	MAPK13	0.30599566
94	LCK	0.30010450
95	ERBB2	0.29872704
96	FER	0.27767162
97	CCNB1	0.27555428
98	STK11	0.26372189
99	PIK3CG	0.26086647
100	LIMK1	0.24219032

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	3.18490538
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	3.09882035
3	Oxidative phosphorylation_Homo sapiens_hsa00190	2.96587765
4	Asthma_Homo sapiens_hsa05310	2.86578505
5	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.51082237
6	Propanoate metabolism_Homo sapiens_hsa00640	2.36901075
7	Parkinsons disease_Homo sapiens_hsa05012	2.30226374
8	Huntingtons disease_Homo sapiens_hsa05016	2.15491859
9	Proteasome_Homo sapiens_hsa03050	2.14347595
10	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.08974317
11	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.05905744
12	RNA polymerase_Homo sapiens_hsa03020	1.99310893
13	Steroid biosynthesis_Homo sapiens_hsa00100	1.96796327
14	Protein export_Homo sapiens_hsa03060	1.91476497
15	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.89827061
16	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.86350066
17	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.72566445
18	Allograft rejection_Homo sapiens_hsa05330	1.72380000
19	Nicotine addiction_Homo sapiens_hsa05033	1.59409110
20	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.58053980
21	Rheumatoid arthritis_Homo sapiens_hsa05323	1.56411863
22	Fanconi anemia pathway_Homo sapiens_hsa03460	1.48600278
23	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.38769466
24	Peroxisome_Homo sapiens_hsa04146	1.38480362
25	Alzheimers disease_Homo sapiens_hsa05010	1.38430776
26	Basal transcription factors_Homo sapiens_hsa03022	1.38348603
27	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.28483732
28	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.28474492
29	Homologous recombination_Homo sapiens_hsa03440	1.25085475
30	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.24975192
31	Linoleic acid metabolism_Homo sapiens_hsa00591	1.23532849
32	Graft-versus-host disease_Homo sapiens_hsa05332	1.21174079
33	Regulation of autophagy_Homo sapiens_hsa04140	1.18633900
34	Collecting duct acid secretion_Homo sapiens_hsa04966	1.18231686
35	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.16352333
36	Fatty acid elongation_Homo sapiens_hsa00062	1.16325674
37	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.14673387
38	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.12989176
39	GABAergic synapse_Homo sapiens_hsa04727	1.11260825
40	Type I diabetes mellitus_Homo sapiens_hsa04940	1.11199883
41	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.10702579
42	Antigen processing and presentation_Homo sapiens_hsa04612	1.07561926
43	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.04604777
44	Cardiac muscle contraction_Homo sapiens_hsa04260	1.03675757
45	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.01303325
46	Butanoate metabolism_Homo sapiens_hsa00650	0.99559018
47	RNA degradation_Homo sapiens_hsa03018	0.97574550
48	Tryptophan metabolism_Homo sapiens_hsa00380	0.94926008
49	Primary immunodeficiency_Homo sapiens_hsa05340	0.94773730
50	Morphine addiction_Homo sapiens_hsa05032	0.94608459
51	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.93280525
52	Non-homologous end-joining_Homo sapiens_hsa03450	0.91596539
53	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.91188859
54	Nitrogen metabolism_Homo sapiens_hsa00910	0.90921587
55	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.89035362
56	Purine metabolism_Homo sapiens_hsa00230	0.88713991
57	Retinol metabolism_Homo sapiens_hsa00830	0.87903028
58	Olfactory transduction_Homo sapiens_hsa04740	0.87655326
59	Circadian rhythm_Homo sapiens_hsa04710	0.86791513
60	Taste transduction_Homo sapiens_hsa04742	0.86726485
61	Pyrimidine metabolism_Homo sapiens_hsa00240	0.86649688
62	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.85610107
63	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.84651481
64	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.82596263
65	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.81953255
66	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.80687186
67	Viral myocarditis_Homo sapiens_hsa05416	0.80030257
68	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.78471073
69	Salivary secretion_Homo sapiens_hsa04970	0.77223994
70	Dopaminergic synapse_Homo sapiens_hsa04728	0.72973077
71	Metabolic pathways_Homo sapiens_hsa01100	0.70393648
72	Serotonergic synapse_Homo sapiens_hsa04726	0.69374508
73	Circadian entrainment_Homo sapiens_hsa04713	0.68857800
74	Chemical carcinogenesis_Homo sapiens_hsa05204	0.68857641
75	Ether lipid metabolism_Homo sapiens_hsa00565	0.67521021
76	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.66011425
77	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.64820044
78	Vibrio cholerae infection_Homo sapiens_hsa05110	0.63555371
79	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.62505793
80	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.62191980
81	Glutamatergic synapse_Homo sapiens_hsa04724	0.61123417
82	Nucleotide excision repair_Homo sapiens_hsa03420	0.59014692
83	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.58828948
84	RNA transport_Homo sapiens_hsa03013	0.58347150
85	Spliceosome_Homo sapiens_hsa03040	0.54572908
86	beta-Alanine metabolism_Homo sapiens_hsa00410	0.54271628
87	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.54168345
88	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.51815578
89	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.51389143
90	Cocaine addiction_Homo sapiens_hsa05030	0.50320307
91	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.48653309
92	Caffeine metabolism_Homo sapiens_hsa00232	0.48544674
93	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.46951318
94	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.46881161
95	ABC transporters_Homo sapiens_hsa02010	0.44973554
96	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.44915631
97	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.42756584
98	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.42486147
99	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.42344393
100	Insulin secretion_Homo sapiens_hsa04911	0.41386503

KATNBL1P6

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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