ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	sphingoid metabolic process (GO:0046519)	5.44422464
2	sphingosine metabolic process (GO:0006670)	4.95153268
3	regulation of pigment cell differentiation (GO:0050932)	4.65792286
4	positive regulation of developmental pigmentation (GO:0048087)	4.58274386
5	diol metabolic process (GO:0034311)	4.42631405
6	regulation of meiosis I (GO:0060631)	4.33507874
7	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	4.30477015
8	DNA methylation involved in gamete generation (GO:0043046)	4.23905924
9	indolalkylamine metabolic process (GO:0006586)	4.22782861
10	tryptophan catabolic process (GO:0006569)	4.22620354
11	indole-containing compound catabolic process (GO:0042436)	4.22620354
12	indolalkylamine catabolic process (GO:0046218)	4.22620354
13	behavioral response to nicotine (GO:0035095)	4.03256806
14	kynurenine metabolic process (GO:0070189)	3.87078609
15	establishment of protein localization to Golgi (GO:0072600)	3.70544470
16	piRNA metabolic process (GO:0034587)	3.70056962
17	tryptophan metabolic process (GO:0006568)	3.64284398
18	monoubiquitinated protein deubiquitination (GO:0035520)	3.57081230
19	detection of light stimulus involved in visual perception (GO:0050908)	3.52746528
20	detection of light stimulus involved in sensory perception (GO:0050962)	3.52746528
21	centriole replication (GO:0007099)	3.49667418
22	interkinetic nuclear migration (GO:0022027)	3.48611945
23	serotonin metabolic process (GO:0042428)	3.40467220
24	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.39991146
25	tachykinin receptor signaling pathway (GO:0007217)	3.39860023
26	regulation of hippo signaling (GO:0035330)	3.39596909
27	neural tube formation (GO:0001841)	3.38602816
28	signal peptide processing (GO:0006465)	3.38158710
29	regulation of protein glycosylation (GO:0060049)	3.36925349
30	protein-chromophore linkage (GO:0018298)	3.36413878
31	indole-containing compound metabolic process (GO:0042430)	3.29308931
32	primary amino compound metabolic process (GO:1901160)	3.29269690
33	protein K11-linked deubiquitination (GO:0035871)	3.28522724
34	gamma-aminobutyric acid signaling pathway (GO:0007214)	3.26354770
35	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.22749653
36	gamma-aminobutyric acid transport (GO:0015812)	3.22180644
37	cilium or flagellum-dependent cell motility (GO:0001539)	3.18311018
38	reflex (GO:0060004)	3.17934448
39	photoreceptor cell maintenance (GO:0045494)	3.15382526
40	sympathetic nervous system development (GO:0048485)	3.10675187
41	regulation of establishment of cell polarity (GO:2000114)	3.10361999
42	L-fucose catabolic process (GO:0042355)	3.09463152
43	fucose catabolic process (GO:0019317)	3.09463152
44	L-fucose metabolic process (GO:0042354)	3.09463152
45	protein K48-linked deubiquitination (GO:0071108)	3.09457837
46	rhodopsin mediated signaling pathway (GO:0016056)	3.07358514
47	snRNA transcription (GO:0009301)	3.06822153
48	detection of mechanical stimulus involved in sensory perception (GO:0050974)	3.04215913
49	auditory receptor cell stereocilium organization (GO:0060088)	3.01871192
50	negative regulation of mast cell activation (GO:0033004)	2.97717173
51	regulation of gene silencing by RNA (GO:0060966)	2.96200749
52	regulation of posttranscriptional gene silencing (GO:0060147)	2.96200749
53	regulation of gene silencing by miRNA (GO:0060964)	2.96200749
54	behavioral response to ethanol (GO:0048149)	2.95734105
55	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.94852138
56	positive regulation of meiosis (GO:0045836)	2.94128064
57	aromatic amino acid family catabolic process (GO:0009074)	2.93762929
58	flavonoid metabolic process (GO:0009812)	2.89366619
59	protein polyglutamylation (GO:0018095)	2.87110746
60	meiotic chromosome segregation (GO:0045132)	2.85966453
61	regulation of establishment or maintenance of cell polarity (GO:0032878)	2.83849606
62	neuronal action potential propagation (GO:0019227)	2.83589529
63	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.82253936
64	cellular biogenic amine catabolic process (GO:0042402)	2.80604558
65	amine catabolic process (GO:0009310)	2.80604558
66	retinal cone cell development (GO:0046549)	2.80195216
67	regulation of sarcomere organization (GO:0060297)	2.76490343
68	cAMP catabolic process (GO:0006198)	2.75783260
69	protein targeting to Golgi (GO:0000042)	2.74931988
70	axoneme assembly (GO:0035082)	2.74557508
71	NAD biosynthetic process (GO:0009435)	2.73685674
72	regulation of odontogenesis of dentin-containing tooth (GO:0042487)	2.71573012
73	positive regulation of meiotic cell cycle (GO:0051446)	2.71088615
74	phospholipid translocation (GO:0045332)	2.70639978
75	lipid translocation (GO:0034204)	2.70639978
76	aromatic amino acid family metabolic process (GO:0009072)	2.70627107
77	sulfate transmembrane transport (GO:1902358)	2.69818828
78	inner ear receptor stereocilium organization (GO:0060122)	2.66914351
79	protein K63-linked deubiquitination (GO:0070536)	2.66253368
80	neuronal action potential (GO:0019228)	2.65716873
81	cellular ketone body metabolic process (GO:0046950)	2.64248098
82	sulfation (GO:0051923)	2.63584992
83	benzene-containing compound metabolic process (GO:0042537)	2.61937128
84	cellular response to ethanol (GO:0071361)	2.61478142
85	retrograde transport, vesicle recycling within Golgi (GO:0000301)	2.59957678
86	thyroid hormone metabolic process (GO:0042403)	2.59025366
87	cyclic nucleotide catabolic process (GO:0009214)	2.58945937
88	cellular response to sterol (GO:0036315)	2.57602843
89	central nervous system myelination (GO:0022010)	2.56056746
90	axon ensheathment in central nervous system (GO:0032291)	2.56056746
91	negative regulation of systemic arterial blood pressure (GO:0003085)	2.55803784
92	reciprocal DNA recombination (GO:0035825)	2.53465888
93	reciprocal meiotic recombination (GO:0007131)	2.53465888
94	membrane depolarization during action potential (GO:0086010)	2.53054083
95	synaptic transmission, glutamatergic (GO:0035249)	2.52595352
96	glutamate receptor signaling pathway (GO:0007215)	2.50128029
97	central nervous system neuron axonogenesis (GO:0021955)	2.47709023
98	negative regulation of sodium ion transport (GO:0010766)	2.46844109
99	prenylation (GO:0097354)	2.46693987
100	protein prenylation (GO:0018342)	2.46693987

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GBX2_23144817_ChIP-Seq_PC3_Human	3.38093238
2	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.08030680
3	EZH2_22144423_ChIP-Seq_EOC_Human	3.04742095
4	VDR_22108803_ChIP-Seq_LS180_Human	2.90424610
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.81927414
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.59656089
7	ZNF274_21170338_ChIP-Seq_K562_Hela	2.57552097
8	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.44618542
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.41651377
10	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.41592348
11	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.34629519
12	AR_21572438_ChIP-Seq_LNCaP_Human	2.21591275
13	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	2.14685479
14	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.14652476
15	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.11583038
16	P300_19829295_ChIP-Seq_ESCs_Human	2.11204542
17	TAF15_26573619_Chip-Seq_HEK293_Human	2.10098483
18	ER_23166858_ChIP-Seq_MCF-7_Human	2.02863591
19	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.00314108
20	STAT3_23295773_ChIP-Seq_U87_Human	1.96965842
21	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.90232600
22	FUS_26573619_Chip-Seq_HEK293_Human	1.84462779
23	SMAD4_21799915_ChIP-Seq_A2780_Human	1.81753099
24	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.79143275
25	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.76983118
26	TCF4_23295773_ChIP-Seq_U87_Human	1.74605548
27	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.73756905
28	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.72884047
29	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.72512020
30	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.70590013
31	EWS_26573619_Chip-Seq_HEK293_Human	1.64129371
32	BCAT_22108803_ChIP-Seq_LS180_Human	1.62769086
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.60847775
34	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.58661368
35	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.58661368
36	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.58039854
37	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.57223424
38	CBP_20019798_ChIP-Seq_JUKART_Human	1.55474862
39	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.55474862
40	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.52924842
41	AR_25329375_ChIP-Seq_VCAP_Human	1.51558254
42	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.48545997
43	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.46301569
44	TP53_16413492_ChIP-PET_HCT116_Human	1.46267097
45	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.43077304
46	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.38325334
47	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.38310357
48	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.35720239
49	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.35715015
50	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.35522852
51	TCF4_22108803_ChIP-Seq_LS180_Human	1.34933497
52	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.34817163
53	REST_21632747_ChIP-Seq_MESCs_Mouse	1.34309620
54	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.34237833
55	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.33643214
56	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.32713192
57	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.32441900
58	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.32408168
59	DROSHA_22980978_ChIP-Seq_HELA_Human	1.30905851
60	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.29391170
61	RUNX2_22187159_ChIP-Seq_PCA_Human	1.28351163
62	NANOG_19829295_ChIP-Seq_ESCs_Human	1.28114759
63	SOX2_19829295_ChIP-Seq_ESCs_Human	1.28114759
64	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.27680501
65	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.26966476
66	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.26959301
67	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.24848705
68	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.24398906
69	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.15215179
70	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.14565803
71	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.13726242
72	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.13478943
73	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.13425948
74	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.13320508
75	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.13111909
76	P53_22387025_ChIP-Seq_ESCs_Mouse	1.11134282
77	RXR_22108803_ChIP-Seq_LS180_Human	1.10410867
78	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.10076232
79	CDX2_22108803_ChIP-Seq_LS180_Human	1.10064734
80	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.09855132
81	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.09770426
82	KDM2B_26808549_Chip-Seq_REH_Human	1.08940254
83	AHR_22903824_ChIP-Seq_MCF-7_Human	1.08427560
84	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.07887588
85	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.07789759
86	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.07017702
87	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.05477922
88	TP53_22573176_ChIP-Seq_HFKS_Human	1.05035770
89	AR_19668381_ChIP-Seq_PC3_Human	1.03771180
90	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.01997968
91	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.01244047
92	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.00990281
93	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.00040186
94	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.99661598
95	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.99444543
96	P300_18555785_Chip-Seq_ESCs_Mouse	0.98729351
97	CMYC_18555785_Chip-Seq_ESCs_Mouse	0.98512970
98	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.98265973
99	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.98265973
100	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.98176411

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	5.24272849
2	MP0002837_dystrophic_cardiac_calcinosis	4.65925531
3	MP0003136_yellow_coat_color	4.32102564
4	MP0005171_absent_coat_pigmentation	3.89212484
5	MP0003646_muscle_fatigue	3.20557733
6	MP0003045_fibrosis	2.84985652
7	MP0002653_abnormal_ependyma_morphology	2.77775247
8	MP0003195_calcinosis	2.51656164
9	MP0009046_muscle_twitch	2.36443175
10	MP0001501_abnormal_sleep_pattern	2.29782508
11	MP0005551_abnormal_eye_electrophysiolog	2.25703979
12	MP0008877_abnormal_DNA_methylation	2.23954479
13	MP0008057_abnormal_DNA_replication	2.18363660
14	MP0002735_abnormal_chemical_nociception	2.18331497
15	MP0003787_abnormal_imprinting	2.09103651
16	MP0003890_abnormal_embryonic-extraembry	2.06332556
17	MP0001968_abnormal_touch/_nociception	2.04790347
18	MP0009745_abnormal_behavioral_response	1.96900084
19	MP0004147_increased_porphyrin_level	1.96576698
20	MP0005174_abnormal_tail_pigmentation	1.95356844
21	MP0004043_abnormal_pH_regulation	1.89678318
22	MP0002272_abnormal_nervous_system	1.80924379
23	MP0003879_abnormal_hair_cell	1.77551405
24	MP0001486_abnormal_startle_reflex	1.75759542
25	MP0000427_abnormal_hair_cycle	1.60509555
26	MP0002064_seizures	1.56068552
27	MP0002138_abnormal_hepatobiliary_system	1.54829787
28	MP0001984_abnormal_olfaction	1.53787118
29	MP0005075_abnormal_melanosome_morpholog	1.53577856
30	MP0002638_abnormal_pupillary_reflex	1.53408499
31	MP0010386_abnormal_urinary_bladder	1.51387545
32	MP0005646_abnormal_pituitary_gland	1.47578753
33	MP0002736_abnormal_nociception_after	1.47512373
34	MP0005377_hearing/vestibular/ear_phenot	1.47430014
35	MP0003878_abnormal_ear_physiology	1.47430014
36	MP0002572_abnormal_emotion/affect_behav	1.46335714
37	MP0001970_abnormal_pain_threshold	1.44560796
38	MP0006276_abnormal_autonomic_nervous	1.44423543
39	MP0001485_abnormal_pinna_reflex	1.43522883
40	MP0005253_abnormal_eye_physiology	1.40546219
41	MP0002168_other_aberrant_phenotype	1.39853606
42	MP0003635_abnormal_synaptic_transmissio	1.39776716
43	MP0004142_abnormal_muscle_tone	1.37741697
44	MP0002733_abnormal_thermal_nociception	1.35876066
45	MP0005085_abnormal_gallbladder_physiolo	1.33623493
46	MP0002938_white_spotting	1.33476206
47	MP0002095_abnormal_skin_pigmentation	1.33388498
48	MP0004381_abnormal_hair_follicle	1.32749433
49	MP0003880_abnormal_central_pattern	1.32270591
50	MP0005670_abnormal_white_adipose	1.29824712
51	MP0002876_abnormal_thyroid_physiology	1.29461338
52	MP0002102_abnormal_ear_morphology	1.24927858
53	MP0008872_abnormal_physiological_respon	1.21774197
54	MP0001986_abnormal_taste_sensitivity	1.19600868
55	MP0003252_abnormal_bile_duct	1.18080951
56	MP0000372_irregular_coat_pigmentation	1.14845742
57	MP0003950_abnormal_plasma_membrane	1.14534551
58	MP0004145_abnormal_muscle_electrophysio	1.12949162
59	MP0002928_abnormal_bile_duct	1.12543522
60	MP0002067_abnormal_sensory_capabilities	1.11333872
61	MP0004742_abnormal_vestibular_system	1.09537853
62	MP0004924_abnormal_behavior	1.08721654
63	MP0005386_behavior/neurological_phenoty	1.08721654
64	MP0006072_abnormal_retinal_apoptosis	1.06808355
65	MP0002063_abnormal_learning/memory/cond	1.06690651
66	MP0002557_abnormal_social/conspecific_i	1.06005357
67	MP0002734_abnormal_mechanical_nocicepti	1.00003917
68	MP0002229_neurodegeneration	0.98829019
69	MP0000383_abnormal_hair_follicle	0.95651870
70	MP0004885_abnormal_endolymph	0.95571696
71	MP0005395_other_phenotype	0.94164489
72	MP0005645_abnormal_hypothalamus_physiol	0.92196852
73	MP0000015_abnormal_ear_pigmentation	0.89346337
74	MP0001324_abnormal_eye_pigmentation	0.89109862
75	MP0003633_abnormal_nervous_system	0.88928545
76	MP0004130_abnormal_muscle_cell	0.87453270
77	MP0008961_abnormal_basal_metabolism	0.86300827
78	MP0001963_abnormal_hearing_physiology	0.85459090
79	MP0003137_abnormal_impulse_conducting	0.84625425
80	MP0005423_abnormal_somatic_nervous	0.83269426
81	MP0000230_abnormal_systemic_arterial	0.82334224
82	MP0003698_abnormal_male_reproductive	0.82040612
83	MP0000371_diluted_coat_color	0.81944233
84	MP0005310_abnormal_salivary_gland	0.81058506
85	MP0002160_abnormal_reproductive_system	0.80397541
86	MP0002075_abnormal_coat/hair_pigmentati	0.78830892
87	MP0005410_abnormal_fertilization	0.77941267
88	MP0002752_abnormal_somatic_nervous	0.73202739
89	MP0000631_abnormal_neuroendocrine_gland	0.72106776
90	MP0005195_abnormal_posterior_eye	0.71990938
91	MP0002882_abnormal_neuron_morphology	0.71418458
92	MP0003631_nervous_system_phenotype	0.70844313
93	MP0005167_abnormal_blood-brain_barrier	0.69971549
94	MP0000026_abnormal_inner_ear	0.68535482
95	MP0000778_abnormal_nervous_system	0.68141964
96	MP0005448_abnormal_energy_balance	0.65048612
97	MP0008875_abnormal_xenobiotic_pharmacok	0.62531086
98	MP0004215_abnormal_myocardial_fiber	0.62343735
99	MP0002184_abnormal_innervation	0.62338468
100	MP0004085_abnormal_heartbeat	0.61402950

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Genetic anticipation (HP:0003743)	4.65713254
2	Pancreatic cysts (HP:0001737)	4.63675226
3	Focal motor seizures (HP:0011153)	4.59291434
4	Hyperventilation (HP:0002883)	4.25954355
5	Gaze-evoked nystagmus (HP:0000640)	4.23387792
6	Congenital stationary night blindness (HP:0007642)	4.04977585
7	Dialeptic seizures (HP:0011146)	3.90592846
8	Focal seizures (HP:0007359)	3.89041799
9	Pancreatic fibrosis (HP:0100732)	3.82577278
10	Progressive cerebellar ataxia (HP:0002073)	3.73384005
11	Abnormality of the renal cortex (HP:0011035)	3.55428949
12	True hermaphroditism (HP:0010459)	3.53668633
13	Amelogenesis imperfecta (HP:0000705)	3.46003134
14	Abnormality of the renal medulla (HP:0100957)	3.26313815
15	Nephronophthisis (HP:0000090)	3.23466947
16	Abnormality of midbrain morphology (HP:0002418)	3.22350895
17	Molar tooth sign on MRI (HP:0002419)	3.22350895
18	Attenuation of retinal blood vessels (HP:0007843)	3.14493982
19	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	3.13043580
20	Chronic hepatic failure (HP:0100626)	3.12834504
21	Febrile seizures (HP:0002373)	3.05693042
22	Protruding tongue (HP:0010808)	3.03581295
23	Clumsiness (HP:0002312)	3.00001198
24	Cystic liver disease (HP:0006706)	2.95153546
25	Type II lissencephaly (HP:0007260)	2.91117065
26	Absence seizures (HP:0002121)	2.82759275
27	Central scotoma (HP:0000603)	2.74671900
28	Tubular atrophy (HP:0000092)	2.72788582
29	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.71689930
30	Cerebellar dysplasia (HP:0007033)	2.69336886
31	Increased neuronal autofluorescent lipopigment (HP:0002074)	2.67871963
32	Inability to walk (HP:0002540)	2.67229471
33	Atonic seizures (HP:0010819)	2.64024638
34	Abnormality of macular pigmentation (HP:0008002)	2.57993259
35	Fair hair (HP:0002286)	2.53234859
36	Progressive inability to walk (HP:0002505)	2.49177827
37	Broad-based gait (HP:0002136)	2.48962982
38	Polydipsia (HP:0001959)	2.46867230
39	Abnormal drinking behavior (HP:0030082)	2.46867230
40	Bony spicule pigmentary retinopathy (HP:0007737)	2.44843934
41	Absent speech (HP:0001344)	2.44293162
42	Decreased circulating renin level (HP:0003351)	2.40360610
43	Congenital hepatic fibrosis (HP:0002612)	2.38363290
44	Increased corneal curvature (HP:0100692)	2.37336108
45	Keratoconus (HP:0000563)	2.37336108
46	Abnormal rod and cone electroretinograms (HP:0008323)	2.35215374
47	Abolished electroretinogram (ERG) (HP:0000550)	2.35078108
48	Medial flaring of the eyebrow (HP:0010747)	2.31861331
49	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.30018634
50	Thyroid-stimulating hormone excess (HP:0002925)	2.28651461
51	Colon cancer (HP:0003003)	2.27657626
52	Stomach cancer (HP:0012126)	2.24993754
53	Congenital sensorineural hearing impairment (HP:0008527)	2.24973962
54	Facial diplegia (HP:0001349)	2.21968709
55	Scotoma (HP:0000575)	2.21339537
56	Parakeratosis (HP:0001036)	2.19494508
57	Absent/shortened dynein arms (HP:0200106)	2.09422310
58	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.09422310
59	Generalized hypopigmentation of hair (HP:0011358)	2.07084272
60	Enlarged kidneys (HP:0000105)	2.06892352
61	Renal cortical cysts (HP:0000803)	2.05929366
62	Urinary bladder sphincter dysfunction (HP:0002839)	2.05215773
63	Hypoplastic iliac wings (HP:0002866)	2.00842382
64	Difficulty walking (HP:0002355)	1.97244981
65	Acanthocytosis (HP:0001927)	1.96817649
66	Pendular nystagmus (HP:0012043)	1.96327870
67	Widely spaced teeth (HP:0000687)	1.94292684
68	Hypoplastic ischia (HP:0003175)	1.92314138
69	Drooling (HP:0002307)	1.91745641
70	Volvulus (HP:0002580)	1.91072554
71	Ileus (HP:0002595)	1.89425646
72	Lissencephaly (HP:0001339)	1.89135215
73	Retinitis pigmentosa (HP:0000510)	1.88348409
74	Gait imbalance (HP:0002141)	1.87998095
75	Furrowed tongue (HP:0000221)	1.86477822
76	Increased cerebral lipofuscin (HP:0011813)	1.85325847
77	Decreased central vision (HP:0007663)	1.83898839
78	Sclerocornea (HP:0000647)	1.83468720
79	Anencephaly (HP:0002323)	1.81862550
80	Hemiparesis (HP:0001269)	1.81127021
81	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.80280760
82	Short foot (HP:0001773)	1.79983003
83	Abnormality of the ischium (HP:0003174)	1.79537502
84	Large for gestational age (HP:0001520)	1.79534080
85	Congenital primary aphakia (HP:0007707)	1.78262390
86	Albinism (HP:0001022)	1.78094907
87	Polyuria (HP:0000103)	1.74114752
88	Patellar aplasia (HP:0006443)	1.73692425
89	Macular degeneration (HP:0000608)	1.73406941
90	Clubbing of toes (HP:0100760)	1.73294668
91	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.72683298
92	Abnormality of the hepatic vasculature (HP:0006707)	1.71880024
93	Nephrogenic diabetes insipidus (HP:0009806)	1.71537499
94	Hyperkalemia (HP:0002153)	1.71094377
95	Excessive salivation (HP:0003781)	1.70348148
96	Severe visual impairment (HP:0001141)	1.69848610
97	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.68860818
98	Abnormal ciliary motility (HP:0012262)	1.68100110
99	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	1.67890844
100	Small hand (HP:0200055)	1.67730249

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	8.83961419
2	LATS1	4.50576368
3	STK38L	3.90139305
4	ACVR1B	3.33075001
5	BMPR1B	2.75263385
6	ZAK	2.29696265
7	ADRBK2	2.20968747
8	CASK	1.91124852
9	TAOK3	1.76340011
10	STK38	1.71273551
11	PINK1	1.68001103
12	WNK3	1.56022271
13	LATS2	1.52340407
14	MAPK13	1.49464903
15	NLK	1.38891244
16	GRK1	1.38099797
17	OXSR1	1.36610716
18	PIK3CG	1.36288903
19	MKNK2	1.34695665
20	NTRK3	1.33825151
21	STK3	1.33314642
22	INSRR	1.28175357
23	STK39	1.26138559
24	CAMK1D	1.25088308
25	CAMK1G	1.24038211
26	MAP3K4	1.24030412
27	ADRBK1	1.20578150
28	NUAK1	1.12570891
29	MAP4K2	1.12095019
30	DAPK2	1.08544180
31	WNK4	1.07969122
32	PAK3	1.02849178
33	TRIM28	0.97670485
34	TGFBR1	0.94208731
35	TNK2	0.92472992
36	TEC	0.90856955
37	MELK	0.90019065
38	PRKAA2	0.87443341
39	TNIK	0.87337207
40	TXK	0.85901171
41	PRKD3	0.83369915
42	MAP2K2	0.79876967
43	PRKCE	0.79174743
44	PNCK	0.79117546
45	AKT3	0.77147269
46	EPHA4	0.76784870
47	MARK1	0.75530443
48	CAMKK2	0.74287051
49	PLK2	0.71408277
50	PTK2B	0.71262717
51	FER	0.69046655
52	MAP3K7	0.68313862
53	PRKCG	0.68228288
54	STK11	0.65069675
55	CAMK1	0.61608897
56	PIK3CA	0.60685778
57	NEK2	0.59032572
58	SGK2	0.58483672
59	CSNK1A1L	0.55817861
60	CAMK2A	0.54886185
61	CAMK4	0.53518624
62	GRK7	0.50716909
63	KIT	0.49381879
64	PKN1	0.49196926
65	NTRK2	0.47504421
66	FGFR2	0.43634015
67	GRK5	0.42357057
68	ERBB2	0.40446864
69	MAP3K2	0.39804289
70	ITK	0.39134232
71	TLK1	0.38726965
72	TRPM7	0.37229018
73	PLK4	0.36698841
74	CDK3	0.36593625
75	PRKACA	0.36224774
76	OBSCN	0.35857780
77	CSNK1D	0.35209081
78	MARK3	0.34868585
79	FLT3	0.33412402
80	PRKACB	0.32940179
81	MKNK1	0.32869598
82	BRD4	0.32378560
83	SGK1	0.31406179
84	TAF1	0.29718184
85	IRAK1	0.29515150
86	TIE1	0.28834477
87	MAP2K7	0.28613782
88	PRKCQ	0.27834005
89	PRKCH	0.27258582
90	MAP2K1	0.27148155
91	EIF2AK3	0.26754292
92	PRKG1	0.25597214
93	PRKAA1	0.25463800
94	CHUK	0.24962962
95	SGK494	0.23991669
96	SGK223	0.23991669
97	MUSK	0.23757911
98	ABL1	0.23397709
99	PRKD1	0.23056214
100	CAMK2B	0.22966449

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	3.52667613
2	Nicotine addiction_Homo sapiens_hsa05033	3.39437713
3	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.42830420
4	Taste transduction_Homo sapiens_hsa04742	2.35139785
5	Morphine addiction_Homo sapiens_hsa05032	2.20280787
6	Butanoate metabolism_Homo sapiens_hsa00650	2.18866661
7	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.10582161
8	ABC transporters_Homo sapiens_hsa02010	2.09810284
9	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.03245940
10	Linoleic acid metabolism_Homo sapiens_hsa00591	1.99598382
11	Nitrogen metabolism_Homo sapiens_hsa00910	1.95881068
12	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.94908696
13	Histidine metabolism_Homo sapiens_hsa00340	1.91229863
14	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.88502534
15	Tryptophan metabolism_Homo sapiens_hsa00380	1.83264990
16	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.82321471
17	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.80659611
18	Homologous recombination_Homo sapiens_hsa03440	1.77947811
19	Glutamatergic synapse_Homo sapiens_hsa04724	1.72710301
20	Olfactory transduction_Homo sapiens_hsa04740	1.71507997
21	GABAergic synapse_Homo sapiens_hsa04727	1.65547024
22	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.64613499
23	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.59622712
24	Circadian entrainment_Homo sapiens_hsa04713	1.55151793
25	Sphingolipid metabolism_Homo sapiens_hsa00600	1.54498982
26	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.50247539
27	Calcium signaling pathway_Homo sapiens_hsa04020	1.48434797
28	Ether lipid metabolism_Homo sapiens_hsa00565	1.39834116
29	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.39473980
30	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.37306967
31	Fanconi anemia pathway_Homo sapiens_hsa03460	1.35262891
32	Salivary secretion_Homo sapiens_hsa04970	1.33651381
33	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.32416770
34	Serotonergic synapse_Homo sapiens_hsa04726	1.26876452
35	Insulin secretion_Homo sapiens_hsa04911	1.26758366
36	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.22635674
37	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.15316761
38	Glycerolipid metabolism_Homo sapiens_hsa00561	1.13857156
39	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.13688609
40	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.06856866
41	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.03880767
42	Caffeine metabolism_Homo sapiens_hsa00232	1.02747791
43	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.99952535
44	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.94831025
45	beta-Alanine metabolism_Homo sapiens_hsa00410	0.94067980
46	cAMP signaling pathway_Homo sapiens_hsa04024	0.93807591
47	Retinol metabolism_Homo sapiens_hsa00830	0.92368444
48	Asthma_Homo sapiens_hsa05310	0.92314812
49	Propanoate metabolism_Homo sapiens_hsa00640	0.91434697
50	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.90371439
51	Chemical carcinogenesis_Homo sapiens_hsa05204	0.89280453
52	Gastric acid secretion_Homo sapiens_hsa04971	0.88173577
53	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.87699229
54	Cholinergic synapse_Homo sapiens_hsa04725	0.87359689
55	Long-term depression_Homo sapiens_hsa04730	0.86999085
56	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.85811808
57	Selenocompound metabolism_Homo sapiens_hsa00450	0.83980915
58	Basal transcription factors_Homo sapiens_hsa03022	0.79409902
59	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.78150419
60	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.75400012
61	Dopaminergic synapse_Homo sapiens_hsa04728	0.71452478
62	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.68131703
63	Regulation of autophagy_Homo sapiens_hsa04140	0.65942633
64	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.64469572
65	Pancreatic secretion_Homo sapiens_hsa04972	0.63460196
66	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.62587644
67	Lysine degradation_Homo sapiens_hsa00310	0.61678495
68	Renin secretion_Homo sapiens_hsa04924	0.61110015
69	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.60414321
70	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.59616244
71	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.58271028
72	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.58023689
73	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.56510736
74	Peroxisome_Homo sapiens_hsa04146	0.55044656
75	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.53962705
76	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.52756000
77	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.52411571
78	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.48711093
79	Amphetamine addiction_Homo sapiens_hsa05031	0.44048010
80	Bile secretion_Homo sapiens_hsa04976	0.43813874
81	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.43467003
82	Circadian rhythm_Homo sapiens_hsa04710	0.42800291
83	Fatty acid degradation_Homo sapiens_hsa00071	0.42455541
84	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.39749055
85	Cocaine addiction_Homo sapiens_hsa05030	0.38066178
86	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.37860115
87	One carbon pool by folate_Homo sapiens_hsa00670	0.37839378
88	Non-homologous end-joining_Homo sapiens_hsa03450	0.37055169
89	Type II diabetes mellitus_Homo sapiens_hsa04930	0.37004057
90	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.35236906
91	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.34616103
92	Platelet activation_Homo sapiens_hsa04611	0.33037872
93	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.33018763
94	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.29718365
95	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.28947472
96	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.27937651
97	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.26944762
98	Ras signaling pathway_Homo sapiens_hsa04014	0.26197116
99	Long-term potentiation_Homo sapiens_hsa04720	0.25646981
100	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.25134034

CCDC144A

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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