ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	centriole replication (GO:0007099)	8.94144911
2	pentose-phosphate shunt (GO:0006098)	7.05541583
3	behavioral response to ethanol (GO:0048149)	6.92522511
4	NADPH regeneration (GO:0006740)	6.87037054
5	negative regulation of catenin import into nucleus (GO:0035414)	6.67733986
6	centriole assembly (GO:0098534)	6.16851192
7	peptidyl-tyrosine autophosphorylation (GO:0038083)	5.90785026
8	alanine transport (GO:0032328)	5.64372770
9	glucose catabolic process (GO:0006007)	5.29072407
10	sequestering of extracellular ligand from receptor (GO:0035581)	5.03671045
11	Sertoli cell development (GO:0060009)	4.93831499
12	parturition (GO:0007567)	4.79396446
13	locomotory exploration behavior (GO:0035641)	4.77288889
14	epithelial cilium movement (GO:0003351)	4.47735683
15	behavioral response to cocaine (GO:0048148)	4.43098631
16	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.27977748
17	chaperone-mediated protein transport (GO:0072321)	4.18680976
18	regulation of glucocorticoid secretion (GO:2000849)	4.17058918
19	L-serine transport (GO:0015825)	4.10834155
20	embryonic body morphogenesis (GO:0010172)	4.03825630
21	negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	3.92052080
22	negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)	3.87808629
23	centrosome duplication (GO:0051298)	3.86935819
24	rRNA methylation (GO:0031167)	3.82049801
25	somite development (GO:0061053)	3.79714044
26	hypothalamus development (GO:0021854)	3.76173271
27	rRNA modification (GO:0000154)	3.73125889
28	negative regulation of catecholamine secretion (GO:0033604)	3.70929956
29	endocrine hormone secretion (GO:0060986)	3.68560054
30	lateral sprouting from an epithelium (GO:0060601)	3.61076430
31	cilium movement (GO:0003341)	3.58310878
32	ribosomal small subunit biogenesis (GO:0042274)	3.49979561
33	GPI anchor metabolic process (GO:0006505)	3.47330280
34	C-terminal protein lipidation (GO:0006501)	3.45286840
35	body morphogenesis (GO:0010171)	3.44990576
36	microtubule bundle formation (GO:0001578)	3.43506136
37	regulation of dendritic cell antigen processing and presentation (GO:0002604)	3.41325651
38	intraciliary transport (GO:0042073)	3.41254830
39	regulation of corticosteroid hormone secretion (GO:2000846)	3.35473485
40	serine transport (GO:0032329)	3.33624949
41	peptidyl-proline hydroxylation (GO:0019511)	3.31624208
42	L-amino acid import (GO:0043092)	3.28933265
43	mitotic cytokinesis (GO:0000281)	3.28064890
44	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.26858598
45	4-hydroxyproline metabolic process (GO:0019471)	3.23002332
46	appendage development (GO:0048736)	3.19864483
47	limb development (GO:0060173)	3.19864483
48	short-term memory (GO:0007614)	3.19615232
49	regulation of feeding behavior (GO:0060259)	3.15981082
50	negative regulation of axon extension (GO:0030517)	3.14835436
51	positive regulation of mitochondrial fission (GO:0090141)	3.07139831
52	head development (GO:0060322)	3.04342290
53	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.02006321
54	regulation of voltage-gated calcium channel activity (GO:1901385)	2.99062456
55	intracellular protein transmembrane import (GO:0044743)	2.96152469
56	NADP metabolic process (GO:0006739)	2.95567672
57	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	2.95131885
58	negative regulation of calcium ion transmembrane transport (GO:1903170)	2.95131885
59	basic amino acid transport (GO:0015802)	2.92932115
60	extracellular regulation of signal transduction (GO:1900115)	2.91249773
61	extracellular negative regulation of signal transduction (GO:1900116)	2.91249773
62	tachykinin receptor signaling pathway (GO:0007217)	2.90030656
63	regulation of vesicle fusion (GO:0031338)	2.88803192
64	nerve growth factor signaling pathway (GO:0038180)	2.88590066
65	negative regulation of cation channel activity (GO:2001258)	2.88279965
66	positive regulation of mast cell activation involved in immune response (GO:0033008)	2.85767921
67	positive regulation of mast cell degranulation (GO:0043306)	2.85767921
68	single strand break repair (GO:0000012)	2.85726042
69	axonemal dynein complex assembly (GO:0070286)	2.82297618
70	exploration behavior (GO:0035640)	2.82191746
71	endoderm formation (GO:0001706)	2.81407546
72	negative regulation of activin receptor signaling pathway (GO:0032926)	2.78030992
73	cytokine production involved in immune response (GO:0002367)	2.77121166
74	left/right pattern formation (GO:0060972)	2.76902546
75	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.75893706
76	C-terminal protein amino acid modification (GO:0018410)	2.75778205
77	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.72216830
78	cilium morphogenesis (GO:0060271)	2.71459177
79	lysine metabolic process (GO:0006553)	2.69696174
80	lysine catabolic process (GO:0006554)	2.69696174
81	glycerol metabolic process (GO:0006071)	2.63852765
82	axoneme assembly (GO:0035082)	2.63647351
83	hexose catabolic process (GO:0019320)	2.62590921
84	limb bud formation (GO:0060174)	2.59380112
85	retina layer formation (GO:0010842)	2.56859105
86	ATP synthesis coupled proton transport (GO:0015986)	2.56182737
87	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.56182737
88	retinal rod cell development (GO:0046548)	2.53630655
89	fear response (GO:0042596)	2.51602890
90	heart process (GO:0003015)	2.51586527
91	heart contraction (GO:0060047)	2.51586527
92	positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)	2.48410258
93	regulation of catenin import into nucleus (GO:0035412)	2.46827115
94	cilium assembly (GO:0042384)	2.45824626
95	cilium organization (GO:0044782)	2.45030746
96	regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	2.42573869
97	protein import into peroxisome matrix (GO:0016558)	2.42082620
98	adrenal gland development (GO:0030325)	2.41391490
99	axon extension involved in axon guidance (GO:0048846)	2.39799476
100	neuron projection extension involved in neuron projection guidance (GO:1902284)	2.39799476

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.68056871
2	SALL1_21062744_ChIP-ChIP_HESCs_Human	3.41811641
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.00473973
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.81464412
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.60592240
6	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.44322687
7	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.33520588
8	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.12381857
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.10999947
10	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.07645485
11	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.07604542
12	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.07045418
13	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.98292061
14	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.95758090
15	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.94859475
16	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.93239399
17	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.83647518
18	ZNF274_21170338_ChIP-Seq_K562_Hela	1.79534674
19	P300_19829295_ChIP-Seq_ESCs_Human	1.78723228
20	FUS_26573619_Chip-Seq_HEK293_Human	1.76643329
21	ELK1_19687146_ChIP-ChIP_HELA_Human	1.71950657
22	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.71293265
23	EWS_26573619_Chip-Seq_HEK293_Human	1.66738782
24	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.64360052
25	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.62579998
26	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.57910712
27	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.53230651
28	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.50769435
29	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.47449054
30	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.46143248
31	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.44132647
32	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.43722400
33	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.37361034
34	CBP_20019798_ChIP-Seq_JUKART_Human	1.37361034
35	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.36641928
36	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.32840471
37	EOMES_21245162_ChIP-Seq_HESCs_Human	1.31732807
38	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.31321600
39	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.31181217
40	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.29815286
41	RNF2_27304074_Chip-Seq_NSC_Mouse	1.29656640
42	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.29207871
43	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.28749173
44	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.27952790
45	JUN_21703547_ChIP-Seq_K562_Human	1.27284617
46	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.26842923
47	TP53_18474530_ChIP-ChIP_U2OS_Human	1.26098779
48	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.25024965
49	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.24493127
50	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.24034489
51	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.22531850
52	* CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.21816415
53	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.21520251
54	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.20732964
55	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.19440008
56	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.17951680
57	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.16932327
58	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.16541952
59	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.15953946
60	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.14134709
61	* NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.13209934
62	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.13195332
63	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.13172401
64	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.12928071
65	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.12714204
66	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.12170470
67	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.11658716
68	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.11292592
69	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.10619489
70	REST_21632747_ChIP-Seq_MESCs_Mouse	1.10470780
71	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.09816342
72	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.09364725
73	TP53_16413492_ChIP-PET_HCT116_Human	1.08685965
74	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.08411406
75	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.07463968
76	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.06637210
77	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.05279219
78	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.05279219
79	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.04936191
80	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.03995634
81	TTF2_22483619_ChIP-Seq_HELA_Human	1.03512569
82	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.02963455
83	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.01535014
84	SMAD4_21799915_ChIP-Seq_A2780_Human	0.99895559
85	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.98815294
86	TCF4_22108803_ChIP-Seq_LS180_Human	0.98410767
87	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.98140246
88	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97690370
89	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.97326032
90	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97209974
91	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.96553156
92	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.96145387
93	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.92956797
94	P53_22387025_ChIP-Seq_ESCs_Mouse	0.92580556
95	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.92362841
96	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.91765085
97	AR_25329375_ChIP-Seq_VCAP_Human	0.90641992
98	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.89567376
99	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.89306270
100	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	0.88903513

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	2.85405115
2	MP0003806_abnormal_nucleotide_metabolis	2.65719113
3	MP0009053_abnormal_anal_canal	2.62966625
4	MP0000537_abnormal_urethra_morphology	2.56535045
5	MP0002234_abnormal_pharynx_morphology	2.48706203
6	MP0006292_abnormal_olfactory_placode	2.35464234
7	MP0003011_delayed_dark_adaptation	2.34336079
8	MP0001188_hyperpigmentation	2.25925236
9	MP0005257_abnormal_intraocular_pressure	2.25018420
10	MP0004133_heterotaxia	2.22493965
11	MP0006276_abnormal_autonomic_nervous	2.16976760
12	MP0002102_abnormal_ear_morphology	1.99464948
13	MP0001299_abnormal_eye_distance/	1.97984192
14	MP0010030_abnormal_orbit_morphology	1.96214484
15	MP0002653_abnormal_ependyma_morphology	1.92191435
16	MP0002282_abnormal_trachea_morphology	1.85191532
17	MP0002233_abnormal_nose_morphology	1.79032683
18	MP0000049_abnormal_middle_ear	1.78828523
19	MP0003937_abnormal_limbs/digits/tail_de	1.78263078
20	MP0003119_abnormal_digestive_system	1.76919483
21	MP0002751_abnormal_autonomic_nervous	1.75509456
22	MP0008789_abnormal_olfactory_epithelium	1.75059132
23	MP0003942_abnormal_urinary_system	1.72964598
24	MP0009379_abnormal_foot_pigmentation	1.72881614
25	MP0002184_abnormal_innervation	1.72353419
26	MP0003787_abnormal_imprinting	1.70884276
27	MP0005084_abnormal_gallbladder_morpholo	1.68835108
28	MP0000778_abnormal_nervous_system	1.66583950
29	MP0003890_abnormal_embryonic-extraembry	1.66219941
30	MP0001293_anophthalmia	1.64200986
31	MP0002160_abnormal_reproductive_system	1.63861161
32	MP0001542_abnormal_bone_strength	1.62391876
33	MP0001905_abnormal_dopamine_level	1.58621230
34	MP0001984_abnormal_olfaction	1.57707770
35	MP0003941_abnormal_skin_development	1.54933426
36	MP0003121_genomic_imprinting	1.51883918
37	MP0008007_abnormal_cellular_replicative	1.49030054
38	MP0003186_abnormal_redox_activity	1.48207742
39	MP0004272_abnormal_basement_membrane	1.48174763
40	MP0005253_abnormal_eye_physiology	1.43044286
41	MP0002108_abnormal_muscle_morphology	1.42226593
42	MP0008438_abnormal_cutaneous_collagen	1.42209146
43	MP0003880_abnormal_central_pattern	1.40115366
44	MP0002734_abnormal_mechanical_nocicepti	1.38361736
45	MP0008932_abnormal_embryonic_tissue	1.37176265
46	MP0005503_abnormal_tendon_morphology	1.35319369
47	MP0000372_irregular_coat_pigmentation	1.34516634
48	MP0004142_abnormal_muscle_tone	1.34421541
49	MP0008058_abnormal_DNA_repair	1.33041892
50	MP0000631_abnormal_neuroendocrine_gland	1.31039569
51	MP0009046_muscle_twitch	1.30446164
52	MP0002938_white_spotting	1.30236024
53	MP0005499_abnormal_olfactory_system	1.25215440
54	MP0005394_taste/olfaction_phenotype	1.25215440
55	MP0005623_abnormal_meninges_morphology	1.25105279
56	MP0005171_absent_coat_pigmentation	1.24757043
57	MP0004233_abnormal_muscle_weight	1.23752901
58	MP0003755_abnormal_palate_morphology	1.22983873
59	MP0005646_abnormal_pituitary_gland	1.20352716
60	MP0003938_abnormal_ear_development	1.20258420
61	MP0003123_paternal_imprinting	1.15683700
62	MP0002736_abnormal_nociception_after	1.14071068
63	MP0002638_abnormal_pupillary_reflex	1.13511131
64	MP0001340_abnormal_eyelid_morphology	1.13491477
65	MP0002752_abnormal_somatic_nervous	1.12862907
66	MP0001286_abnormal_eye_development	1.11748842
67	MP0009250_abnormal_appendicular_skeleto	1.11145634
68	MP0002295_abnormal_pulmonary_circulatio	1.10932220
69	MP0000639_abnormal_adrenal_gland	1.05760725
70	MP0000955_abnormal_spinal_cord	1.04513138
71	MP0005391_vision/eye_phenotype	1.03625374
72	MP0002697_abnormal_eye_size	1.02765430
73	MP0003122_maternal_imprinting	1.01399264
74	MP0002909_abnormal_adrenal_gland	0.98565238
75	MP0005508_abnormal_skeleton_morphology	0.95707849
76	MP0002109_abnormal_limb_morphology	0.95329303
77	MP0000534_abnormal_ureter_morphology	0.94110679
78	MP0002932_abnormal_joint_morphology	0.94055163
79	MP0004858_abnormal_nervous_system	0.93649947
80	MP0004134_abnormal_chest_morphology	0.92820481
81	MP0005551_abnormal_eye_electrophysiolog	0.92392230
82	MP0009745_abnormal_behavioral_response	0.90991203
83	MP0002272_abnormal_nervous_system	0.90190343
84	MP0000749_muscle_degeneration	0.90094079
85	MP0000762_abnormal_tongue_morphology	0.88014892
86	MP0000432_abnormal_head_morphology	0.86812033
87	MP0002882_abnormal_neuron_morphology	0.85132236
88	MP0006072_abnormal_retinal_apoptosis	0.85031207
89	MP0000647_abnormal_sebaceous_gland	0.84740715
90	MP0003861_abnormal_nervous_system	0.84184055
91	MP0005195_abnormal_posterior_eye	0.83311970
92	MP0005197_abnormal_uvea_morphology	0.81988860
93	MP0004270_analgesia	0.81618900
94	MP0001970_abnormal_pain_threshold	0.80952552
95	MP0004145_abnormal_muscle_electrophysio	0.79355828
96	MP0002090_abnormal_vision	0.78807351
97	MP0002067_abnormal_sensory_capabilities	0.78611650
98	MP0003718_maternal_effect	0.76877662
99	MP0000428_abnormal_craniofacial_morphol	0.76670284
100	MP0006036_abnormal_mitochondrial_physio	0.76483418

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormal hair whorl (HP:0010721)	6.74177383
2	Bile duct proliferation (HP:0001408)	5.67304002
3	Abnormal biliary tract physiology (HP:0012439)	5.67304002
4	Patent foramen ovale (HP:0001655)	5.40824069
5	Abnormality of the right ventricle (HP:0001707)	4.20783678
6	Hypoplastic pelvis (HP:0008839)	4.16138699
7	3-Methylglutaconic aciduria (HP:0003535)	3.26653392
8	Cortical dysplasia (HP:0002539)	3.19459754
9	Bifid tongue (HP:0010297)	3.14023701
10	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.13306463
11	Short nail (HP:0001799)	3.05223704
12	Acute necrotizing encephalopathy (HP:0006965)	3.03879151
13	Abnormality of the proximal phalanges of the hand (HP:0009834)	2.96928436
14	Abnormality of midbrain morphology (HP:0002418)	2.93888563
15	Molar tooth sign on MRI (HP:0002419)	2.93888563
16	Abnormal respiratory motile cilium physiology (HP:0012261)	2.93517594
17	Morphological abnormality of the middle ear (HP:0008609)	2.79150117
18	Poor suck (HP:0002033)	2.74428049
19	Medial flaring of the eyebrow (HP:0010747)	2.66456711
20	Fatigable weakness (HP:0003473)	2.66128516
21	Abnormality of the neuromuscular junction (HP:0003398)	2.66128516
22	Abnormal ciliary motility (HP:0012262)	2.62404126
23	Absent septum pellucidum (HP:0001331)	2.60957042
24	Decreased muscle mass (HP:0003199)	2.60040503
25	Abnormal mitochondria in muscle tissue (HP:0008316)	2.55728584
26	Abnormality of the umbilical cord (HP:0010881)	2.54429233
27	Cystic liver disease (HP:0006706)	2.52844896
28	Pancreatic cysts (HP:0001737)	2.51408273
29	Abnormality of dentin (HP:0010299)	2.47740307
30	Premature rupture of membranes (HP:0001788)	2.46822989
31	Abnormality of the labia minora (HP:0012880)	2.44556569
32	Tubulointerstitial nephritis (HP:0001970)	2.43627781
33	Acute encephalopathy (HP:0006846)	2.42965791
34	Short 1st metacarpal (HP:0010034)	2.37973702
35	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	2.37973702
36	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.36478810
37	Rhinitis (HP:0012384)	2.36422887
38	Abnormality of the phalanges of the 5th finger (HP:0004213)	2.36147554
39	Renal Fanconi syndrome (HP:0001994)	2.33792472
40	Wide nose (HP:0000445)	2.33761124
41	Progressive macrocephaly (HP:0004481)	2.33586996
42	Abnormality of the middle phalanges of the toes (HP:0010183)	2.30059573
43	Progressive microcephaly (HP:0000253)	2.25623005
44	Short humerus (HP:0005792)	2.24381096
45	Spastic tetraparesis (HP:0001285)	2.22659078
46	Sloping forehead (HP:0000340)	2.16705067
47	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.14992937
48	Fibular hypoplasia (HP:0003038)	2.12997589
49	Abnormality of the distal phalanges of the toes (HP:0010182)	2.12706523
50	Abnormality of the 1st metacarpal (HP:0010009)	2.11710022
51	Absent/shortened dynein arms (HP:0200106)	2.11500653
52	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.11500653
53	True hermaphroditism (HP:0010459)	2.10399441
54	Aplasia/hypoplasia of the humerus (HP:0006507)	2.10122815
55	Nephrogenic diabetes insipidus (HP:0009806)	2.08473244
56	Septo-optic dysplasia (HP:0100842)	2.07822557
57	Gonadotropin excess (HP:0000837)	2.05589666
58	Abnormality of cells of the erythroid lineage (HP:0012130)	2.04209746
59	Abnormal respiratory motile cilium morphology (HP:0005938)	2.01811058
60	Abnormal respiratory epithelium morphology (HP:0012253)	2.01811058
61	Humeroradial synostosis (HP:0003041)	2.01573472
62	Synostosis involving the elbow (HP:0003938)	2.01573472
63	Pancreatic fibrosis (HP:0100732)	1.98668138
64	Congenital primary aphakia (HP:0007707)	1.97569425
65	Rocker bottom foot (HP:0001838)	1.96830052
66	Congenital, generalized hypertrichosis (HP:0004540)	1.93761257
67	Gait imbalance (HP:0002141)	1.93004225
68	Mitochondrial inheritance (HP:0001427)	1.92031397
69	Lip pit (HP:0100267)	1.90972111
70	Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)	1.90797222
71	Vaginal atresia (HP:0000148)	1.89376062
72	Myelomeningocele (HP:0002475)	1.87096638
73	Abnormality of the septum pellucidum (HP:0007375)	1.86124210
74	Aplasia/Hypoplasia of the fibula (HP:0006492)	1.85841170
75	Increased CSF lactate (HP:0002490)	1.85784916
76	Adrenal hypoplasia (HP:0000835)	1.84261338
77	Anophthalmia (HP:0000528)	1.84147775
78	Abnormal finger flexion creases (HP:0006143)	1.83834392
79	Entropion (HP:0000621)	1.83822867
80	Anosmia (HP:0000458)	1.83017470
81	Chorioretinal atrophy (HP:0000533)	1.82407116
82	Genital tract atresia (HP:0001827)	1.81837142
83	Absent eyebrow (HP:0002223)	1.81338594
84	Secondary amenorrhea (HP:0000869)	1.80558722
85	Short hallux (HP:0010109)	1.79190697
86	Abnormal lung lobation (HP:0002101)	1.78170489
87	Aplasia/Hypoplasia of the 5th finger (HP:0006262)	1.78076439
88	Median cleft lip (HP:0000161)	1.77312359
89	Short 5th finger (HP:0009237)	1.75985517
90	Abolished electroretinogram (ERG) (HP:0000550)	1.72556901
91	Hemivertebrae (HP:0002937)	1.71297692
92	Tarsal synostosis (HP:0008368)	1.71035720
93	Meckel diverticulum (HP:0002245)	1.70192648
94	Postaxial hand polydactyly (HP:0001162)	1.69927766
95	Broad distal phalanx of finger (HP:0009836)	1.69744664
96	Microretrognathia (HP:0000308)	1.69510259
97	Abnormal number of erythroid precursors (HP:0012131)	1.67072381
98	Synostosis of carpal bones (HP:0005048)	1.66440333
99	Broad toe (HP:0001837)	1.65661235
100	Nephronophthisis (HP:0000090)	1.65604926

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BMPR1B	9.74649343
2	MUSK	7.64029864
3	AKT3	2.85142578
4	TRIM28	2.36548194
5	WNK3	1.83545678
6	DYRK2	1.80106932
7	PINK1	1.78040612
8	MAP3K4	1.77001658
9	PNCK	1.72857858
10	TSSK6	1.63208540
11	BUB1	1.57645717
12	STK16	1.56243666
13	MAP4K2	1.54591134
14	MAP3K12	1.54557644
15	BCR	1.45044868
16	MAP2K7	1.44817024
17	MINK1	1.28717351
18	CAMK1G	1.28341059
19	BRAF	1.27864190
20	ARAF	1.26727519
21	MYLK	1.23899894
22	EPHA4	1.20268802
23	EPHB2	1.13830420
24	EIF2AK1	1.03210464
25	MARK1	1.02978321
26	PAK3	0.98965904
27	SGK223	0.97985682
28	SGK494	0.97985682
29	DYRK3	0.97168357
30	CASK	0.91073071
31	PLK2	0.84018032
32	BRSK1	0.82608354
33	GRK1	0.80938162
34	PLK4	0.80798639
35	NTRK1	0.80646996
36	CAMK1D	0.78907883
37	NEK9	0.76639175
38	NTRK3	0.76604377
39	PRKCG	0.74986163
40	TYRO3	0.74557627
41	GRK7	0.73063375
42	VRK2	0.68958094
43	TIE1	0.65132142
44	KSR1	0.64320649
45	MAPK13	0.62532868
46	ADRBK2	0.60446504
47	CDK5	0.58738376
48	NEK2	0.58598596
49	WEE1	0.58084126
50	PLK3	0.55037490
51	WNK4	0.54731592
52	LIMK1	0.52954499
53	CDC7	0.52683247
54	MAPK15	0.50074539
55	DDR2	0.49873965
56	CSNK1G2	0.47544559
57	INSRR	0.47524538
58	PLK1	0.47404030
59	PIM2	0.46916942
60	NEK1	0.46002433
61	NME2	0.43982317
62	DAPK3	0.42112541
63	TNIK	0.40271885
64	PBK	0.39762861
65	CAMK2D	0.39686558
66	PHKG1	0.38940939
67	PHKG2	0.38940939
68	TESK1	0.38302098
69	CSNK1G1	0.34613191
70	CDK14	0.33448666
71	ADRBK1	0.32427727
72	FRK	0.30968409
73	ABL2	0.30522580
74	CDK18	0.30492590
75	PAK1	0.30435000
76	MAP2K4	0.29490147
77	PRKCD	0.28604543
78	AURKB	0.28397743
79	PRKACB	0.27789821
80	BCKDK	0.27768996
81	LRRK2	0.26307872
82	CSNK1A1	0.25594337
83	SIK3	0.25095771
84	PRKACA	0.24465956
85	PRKCE	0.24233574
86	DYRK1A	0.24193804
87	CDK15	0.24082354
88	PTK2B	0.23347558
89	AURKA	0.23189458
90	ROCK1	0.23121725
91	NUAK1	0.22452737
92	ERBB3	0.22097373
93	CSNK1G3	0.21897297
94	ILK	0.21729904
95	VRK1	0.21140192
96	MOS	0.21116178
97	ROCK2	0.20573610
98	PRKCQ	0.20412028
99	CDK11A	0.19188961
100	CSNK1D	0.18543598

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	4.27895581
2	Pentose phosphate pathway_Homo sapiens_hsa00030	3.43943651
3	Oxidative phosphorylation_Homo sapiens_hsa00190	3.35512969
4	Protein export_Homo sapiens_hsa03060	3.29528024
5	Parkinsons disease_Homo sapiens_hsa05012	2.90627402
6	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.79599082
7	Ribosome_Homo sapiens_hsa03010	2.73029384
8	Proteasome_Homo sapiens_hsa03050	2.65012651
9	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	2.64175353
10	Huntingtons disease_Homo sapiens_hsa05016	2.34381539
11	Basal cell carcinoma_Homo sapiens_hsa05217	2.25596800
12	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.09195603
13	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	2.05934508
14	RNA polymerase_Homo sapiens_hsa03020	1.98383212
15	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.95386393
16	Alzheimers disease_Homo sapiens_hsa05010	1.89627263
17	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.74387429
18	Homologous recombination_Homo sapiens_hsa03440	1.62836934
19	Glutathione metabolism_Homo sapiens_hsa00480	1.62173503
20	Fanconi anemia pathway_Homo sapiens_hsa03460	1.57417660
21	Basal transcription factors_Homo sapiens_hsa03022	1.53509560
22	Fatty acid elongation_Homo sapiens_hsa00062	1.49896749
23	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.42580193
24	Cardiac muscle contraction_Homo sapiens_hsa04260	1.39927124
25	Phototransduction_Homo sapiens_hsa04744	1.35582108
26	Non-homologous end-joining_Homo sapiens_hsa03450	1.29811101
27	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.21813534
28	Hippo signaling pathway_Homo sapiens_hsa04390	1.20626293
29	Mismatch repair_Homo sapiens_hsa03430	1.17477403
30	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.11937846
31	Nucleotide excision repair_Homo sapiens_hsa03420	1.11597477
32	Carbon metabolism_Homo sapiens_hsa01200	1.03427862
33	Steroid biosynthesis_Homo sapiens_hsa00100	0.96143430
34	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.94248729
35	Nicotine addiction_Homo sapiens_hsa05033	0.93571562
36	Chemical carcinogenesis_Homo sapiens_hsa05204	0.92835930
37	Mineral absorption_Homo sapiens_hsa04978	0.90280893
38	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.88720806
39	Wnt signaling pathway_Homo sapiens_hsa04310	0.82708423
40	Endometrial cancer_Homo sapiens_hsa05213	0.81678709
41	Long-term depression_Homo sapiens_hsa04730	0.81439051
42	ECM-receptor interaction_Homo sapiens_hsa04512	0.79309892
43	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.79170649
44	Pyrimidine metabolism_Homo sapiens_hsa00240	0.77211200
45	Spliceosome_Homo sapiens_hsa03040	0.76841252
46	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.74857546
47	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.74043124
48	RNA transport_Homo sapiens_hsa03013	0.73502568
49	RNA degradation_Homo sapiens_hsa03018	0.73084787
50	Tyrosine metabolism_Homo sapiens_hsa00350	0.72432375
51	Colorectal cancer_Homo sapiens_hsa05210	0.68694684
52	Renal cell carcinoma_Homo sapiens_hsa05211	0.67937056
53	Nitrogen metabolism_Homo sapiens_hsa00910	0.66231690
54	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.65076192
55	Metabolic pathways_Homo sapiens_hsa01100	0.63701883
56	Sulfur metabolism_Homo sapiens_hsa00920	0.63579588
57	Butanoate metabolism_Homo sapiens_hsa00650	0.62985991
58	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.62417652
59	Retinol metabolism_Homo sapiens_hsa00830	0.62184560
60	Tryptophan metabolism_Homo sapiens_hsa00380	0.61773868
61	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.59085285
62	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.59071093
63	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.58471188
64	Peroxisome_Homo sapiens_hsa04146	0.58376753
65	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.57664914
66	p53 signaling pathway_Homo sapiens_hsa04115	0.57425014
67	Fatty acid degradation_Homo sapiens_hsa00071	0.55725545
68	Purine metabolism_Homo sapiens_hsa00230	0.54742482
69	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.53560376
70	Propanoate metabolism_Homo sapiens_hsa00640	0.52922580
71	Oocyte meiosis_Homo sapiens_hsa04114	0.51594002
72	DNA replication_Homo sapiens_hsa03030	0.50461292
73	Selenocompound metabolism_Homo sapiens_hsa00450	0.47415634
74	Glucagon signaling pathway_Homo sapiens_hsa04922	0.45556368
75	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.44797600
76	Dopaminergic synapse_Homo sapiens_hsa04728	0.42070138
77	One carbon pool by folate_Homo sapiens_hsa00670	0.41801473
78	Tight junction_Homo sapiens_hsa04530	0.40572166
79	Olfactory transduction_Homo sapiens_hsa04740	0.40321607
80	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.37783099
81	Melanoma_Homo sapiens_hsa05218	0.37377777
82	Base excision repair_Homo sapiens_hsa03410	0.36962331
83	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.36475961
84	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.35922306
85	Lysine degradation_Homo sapiens_hsa00310	0.35202547
86	Serotonergic synapse_Homo sapiens_hsa04726	0.35001266
87	Pathways in cancer_Homo sapiens_hsa05200	0.34915751
88	Cell cycle_Homo sapiens_hsa04110	0.34115260
89	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.34088846
90	Notch signaling pathway_Homo sapiens_hsa04330	0.33606887
91	Melanogenesis_Homo sapiens_hsa04916	0.33303855
92	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.32802885
93	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.32169429
94	Vibrio cholerae infection_Homo sapiens_hsa05110	0.30759294
95	Collecting duct acid secretion_Homo sapiens_hsa04966	0.28995203
96	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.28250568
97	Protein digestion and absorption_Homo sapiens_hsa04974	0.28222144
98	Folate biosynthesis_Homo sapiens_hsa00790	0.28213223
99	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.27028842
100	Circadian entrainment_Homo sapiens_hsa04713	0.26472911

C8ORF48

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)

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