ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	replication fork processing (GO:0031297)	5.51898778
2	tyrosine phosphorylation of STAT protein (GO:0007260)	4.88399512
3	histone H2A acetylation (GO:0043968)	4.70000252
4	negative regulation of fibroblast apoptotic process (GO:2000270)	4.46093959
5	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	4.29601812
6	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	4.29601812
7	positive regulation of uterine smooth muscle contraction (GO:0070474)	4.26218711
8	tachykinin receptor signaling pathway (GO:0007217)	4.09124981
9	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	4.07843175
10	regulation of fibroblast apoptotic process (GO:2000269)	3.98450055
11	resolution of meiotic recombination intermediates (GO:0000712)	3.82944953
12	otic vesicle formation (GO:0030916)	3.81442299
13	acrosome assembly (GO:0001675)	3.70533514
14	L-fucose catabolic process (GO:0042355)	3.70355998
15	fucose catabolic process (GO:0019317)	3.70355998
16	L-fucose metabolic process (GO:0042354)	3.70355998
17	ubiquinone metabolic process (GO:0006743)	3.59255937
18	DNA double-strand break processing (GO:0000729)	3.53832870
19	kidney morphogenesis (GO:0060993)	3.52089642
20	neural tube formation (GO:0001841)	3.49541538
21	regulation of mitotic spindle checkpoint (GO:1903504)	3.44948385
22	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.44948385
23	protein neddylation (GO:0045116)	3.44860135
24	regulation of hexokinase activity (GO:1903299)	3.44717393
25	regulation of glucokinase activity (GO:0033131)	3.44717393
26	cellular response to sterol (GO:0036315)	3.41191540
27	mitotic sister chromatid cohesion (GO:0007064)	3.40754154
28	somatic hypermutation of immunoglobulin genes (GO:0016446)	3.38233923
29	somatic diversification of immune receptors via somatic mutation (GO:0002566)	3.38233923
30	recombinational repair (GO:0000725)	3.37674608
31	intraciliary transport (GO:0042073)	3.36852069
32	mitochondrial RNA metabolic process (GO:0000959)	3.36707575
33	double-strand break repair via homologous recombination (GO:0000724)	3.32729425
34	photoreceptor cell maintenance (GO:0045494)	3.27678390
35	neurotransmitter catabolic process (GO:0042135)	3.25555593
36	protein polyglutamylation (GO:0018095)	3.18899592
37	startle response (GO:0001964)	3.11081321
38	regulation of uterine smooth muscle contraction (GO:0070472)	3.07370764
39	gastrulation with mouth forming second (GO:0001702)	3.05389091
40	DNA demethylation (GO:0080111)	3.05073424
41	cellular response to cholesterol (GO:0071397)	3.04881635
42	protein K11-linked deubiquitination (GO:0035871)	3.03848450
43	DNA strand renaturation (GO:0000733)	3.03719087
44	kinetochore assembly (GO:0051382)	2.96897376
45	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.96271944
46	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.95415013
47	pancreas development (GO:0031016)	2.90964006
48	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.89057807
49	presynaptic membrane assembly (GO:0097105)	2.87841590
50	DNA integration (GO:0015074)	2.86501624
51	seminiferous tubule development (GO:0072520)	2.85447589
52	DNA deamination (GO:0045006)	2.83607510
53	inner ear receptor cell development (GO:0060119)	2.82908486
54	regulation of feeding behavior (GO:0060259)	2.82806391
55	innervation (GO:0060384)	2.82383153
56	oxidative demethylation (GO:0070989)	2.79731752
57	ubiquinone biosynthetic process (GO:0006744)	2.78551413
58	prenylation (GO:0097354)	2.78525051
59	protein prenylation (GO:0018342)	2.78525051
60	axoneme assembly (GO:0035082)	2.78122152
61	reflex (GO:0060004)	2.78041677
62	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.78013846
63	adenosine metabolic process (GO:0046085)	2.77692431
64	regulation of non-canonical Wnt signaling pathway (GO:2000050)	2.77323779
65	cerebral cortex radially oriented cell migration (GO:0021799)	2.73395628
66	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.73067844
67	cellular ketone body metabolic process (GO:0046950)	2.72034277
68	branched-chain amino acid catabolic process (GO:0009083)	2.70706493
69	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.69690251
70	response to sterol (GO:0036314)	2.66102970
71	retinal cone cell development (GO:0046549)	2.65727824
72	platelet dense granule organization (GO:0060155)	2.63657576
73	olfactory bulb development (GO:0021772)	2.63132651
74	organ growth (GO:0035265)	2.62509278
75	cochlea development (GO:0090102)	2.59528579
76	retinal ganglion cell axon guidance (GO:0031290)	2.59169002
77	cilium morphogenesis (GO:0060271)	2.56271850
78	CENP-A containing nucleosome assembly (GO:0034080)	2.55969547
79	cilium or flagellum-dependent cell motility (GO:0001539)	2.55054856
80	activated T cell proliferation (GO:0050798)	2.54736271
81	peroxisome organization (GO:0007031)	2.51782252
82	presynaptic membrane organization (GO:0097090)	2.51102445
83	chromatin remodeling at centromere (GO:0031055)	2.51062352
84	response to pheromone (GO:0019236)	2.49025197
85	ganglion development (GO:0061548)	2.46702635
86	protein deneddylation (GO:0000338)	2.46245105
87	double-strand break repair (GO:0006302)	2.43708966
88	limb bud formation (GO:0060174)	2.43308776
89	cullin deneddylation (GO:0010388)	2.40934671
90	cilium organization (GO:0044782)	2.40498306
91	pericardium development (GO:0060039)	2.40366228
92	preassembly of GPI anchor in ER membrane (GO:0016254)	2.39682156
93	cell wall macromolecule catabolic process (GO:0016998)	2.39329453
94	transepithelial transport (GO:0070633)	2.39161765
95	histone mRNA metabolic process (GO:0008334)	2.39112321
96	kinetochore organization (GO:0051383)	2.38717571
97	regulation of cilium movement (GO:0003352)	2.38155249
98	ketone body metabolic process (GO:1902224)	2.38036145
99	lactate metabolic process (GO:0006089)	2.37660008
100	protein localization to cilium (GO:0061512)	2.37445938

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZFP57_27257070_Chip-Seq_ESCs_Mouse	3.02975837
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.01534727
3	TAF15_26573619_Chip-Seq_HEK293_Human	3.00652027
4	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.88624645
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.79739411
6	ZNF274_21170338_ChIP-Seq_K562_Hela	2.75070882
7	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.66835483
8	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.58433995
9	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.55044560
10	GBX2_23144817_ChIP-Seq_PC3_Human	2.40925723
11	FUS_26573619_Chip-Seq_HEK293_Human	2.39383545
12	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.36731920
13	P300_19829295_ChIP-Seq_ESCs_Human	2.35681897
14	EWS_26573619_Chip-Seq_HEK293_Human	2.31023670
15	IGF1R_20145208_ChIP-Seq_DFB_Human	2.27936422
16	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.24884439
17	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.22783664
18	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.17099560
19	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.16004047
20	VDR_22108803_ChIP-Seq_LS180_Human	2.11798854
21	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.01151042
22	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.99140609
23	IRF1_19129219_ChIP-ChIP_H3396_Human	1.94739456
24	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.91328323
25	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.91067734
26	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.82390038
27	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.79415237
28	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.79170790
29	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.67413727
30	ER_23166858_ChIP-Seq_MCF-7_Human	1.60541715
31	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.57396571
32	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.56522063
33	CBP_20019798_ChIP-Seq_JUKART_Human	1.56522063
34	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.56045912
35	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.52090793
36	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.51282377
37	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.50913825
38	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.50410090
39	BCAT_22108803_ChIP-Seq_LS180_Human	1.49671742
40	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.47006404
41	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.45228499
42	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.44592250
43	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.43663066
44	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.42573988
45	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.42484006
46	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.39965851
47	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.38896971
48	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.38747299
49	SMAD4_21799915_ChIP-Seq_A2780_Human	1.38386731
50	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.37045111
51	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.36987815
52	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.35842457
53	TCF4_22108803_ChIP-Seq_LS180_Human	1.35588575
54	SOX2_19829295_ChIP-Seq_ESCs_Human	1.34319005
55	NANOG_19829295_ChIP-Seq_ESCs_Human	1.34319005
56	STAT3_23295773_ChIP-Seq_U87_Human	1.33887368
57	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.33820988
58	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.33736904
59	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.33428118
60	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.31972145
61	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.31502581
62	EZH2_22144423_ChIP-Seq_EOC_Human	1.31028125
63	AR_25329375_ChIP-Seq_VCAP_Human	1.30080002
64	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.26476311
65	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.26464178
66	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.26237211
67	MYC_18940864_ChIP-ChIP_HL60_Human	1.24548131
68	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.23099171
69	ELK1_19687146_ChIP-ChIP_HELA_Human	1.22434523
70	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.21649911
71	RUNX2_22187159_ChIP-Seq_PCA_Human	1.20668593
72	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.19139415
73	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.19043576
74	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.18549477
75	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.18278275
76	VDR_23849224_ChIP-Seq_CD4+_Human	1.17565527
77	P53_22387025_ChIP-Seq_ESCs_Mouse	1.17370705
78	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.14849617
79	NFYA_21822215_ChIP-Seq_K562_Human	1.14261975
80	NFYB_21822215_ChIP-Seq_K562_Human	1.13263192
81	AR_21572438_ChIP-Seq_LNCaP_Human	1.11923975
82	TCF4_23295773_ChIP-Seq_U87_Human	1.11333226
83	TBL1_22424771_ChIP-Seq_293T_Human	1.11328797
84	FOXP3_21729870_ChIP-Seq_TREG_Human	1.11124112
85	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.10857180
86	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.10298693
87	KDM2B_26808549_Chip-Seq_REH_Human	1.09670323
88	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.09178876
89	CDX2_22108803_ChIP-Seq_LS180_Human	1.08757780
90	TP53_22573176_ChIP-Seq_HFKS_Human	1.08548021
91	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.06314307
92	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.05385207
93	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.04850107
94	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.04452451
95	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.03890095
96	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.03469733
97	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.03439813
98	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.03364933
99	RUNX1_17652178_ChIP-ChIP_JURKAT_Human	1.02018506
100	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01331509

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	3.92406852
2	MP0008877_abnormal_DNA_methylation	3.06685779
3	MP0003950_abnormal_plasma_membrane	2.92763891
4	MP0003890_abnormal_embryonic-extraembry	2.74273780
5	MP0002234_abnormal_pharynx_morphology	2.73121562
6	MP0002102_abnormal_ear_morphology	2.56032349
7	MP0003880_abnormal_central_pattern	2.53296779
8	MP0002736_abnormal_nociception_after	2.24944966
9	MP0004133_heterotaxia	2.24598856
10	MP0003937_abnormal_limbs/digits/tail_de	2.23069053
11	MP0000778_abnormal_nervous_system	2.14364203
12	MP0003787_abnormal_imprinting	2.07453711
13	MP0005551_abnormal_eye_electrophysiolog	2.06196239
14	MP0005253_abnormal_eye_physiology	1.94422696
15	MP0000631_abnormal_neuroendocrine_gland	1.92148567
16	MP0008995_early_reproductive_senescence	1.90102740
17	MP0000049_abnormal_middle_ear	1.83469219
18	MP0002233_abnormal_nose_morphology	1.78815780
19	MP0003878_abnormal_ear_physiology	1.76523316
20	MP0005377_hearing/vestibular/ear_phenot	1.76523316
21	MP0001529_abnormal_vocalization	1.73291655
22	MP0006072_abnormal_retinal_apoptosis	1.70784612
23	MP0005394_taste/olfaction_phenotype	1.69521850
24	MP0005499_abnormal_olfactory_system	1.69521850
25	MP0008058_abnormal_DNA_repair	1.68436872
26	MP0004957_abnormal_blastocyst_morpholog	1.64312207
27	MP0008057_abnormal_DNA_replication	1.63997555
28	MP0008789_abnormal_olfactory_epithelium	1.60821536
29	MP0010094_abnormal_chromosome_stability	1.58791492
30	MP0002751_abnormal_autonomic_nervous	1.58387894
31	MP0002653_abnormal_ependyma_morphology	1.57490777
32	MP0005360_urolithiasis	1.52731441
33	MP0002282_abnormal_trachea_morphology	1.51998057
34	MP0005646_abnormal_pituitary_gland	1.49700297
35	MP0003122_maternal_imprinting	1.48447693
36	MP0003786_premature_aging	1.48394010
37	MP0001984_abnormal_olfaction	1.43633989
38	MP0000372_irregular_coat_pigmentation	1.42506124
39	MP0003646_muscle_fatigue	1.39958843
40	MP0000569_abnormal_digit_pigmentation	1.36619066
41	MP0005248_abnormal_Harderian_gland	1.35430432
42	MP0003755_abnormal_palate_morphology	1.28139933
43	MP0004145_abnormal_muscle_electrophysio	1.28054996
44	MP0001968_abnormal_touch/_nociception	1.27383856
45	MP0004215_abnormal_myocardial_fiber	1.26008229
46	MP0001963_abnormal_hearing_physiology	1.22295196
47	MP0006054_spinal_hemorrhage	1.21809280
48	MP0003121_genomic_imprinting	1.21183069
49	MP0001929_abnormal_gametogenesis	1.20939786
50	MP0009053_abnormal_anal_canal	1.20476617
51	MP0004885_abnormal_endolymph	1.20285782
52	MP0008932_abnormal_embryonic_tissue	1.19920533
53	MP0001485_abnormal_pinna_reflex	1.15548139
54	MP0004142_abnormal_muscle_tone	1.12210744
55	MP0003942_abnormal_urinary_system	1.10012553
56	MP0002210_abnormal_sex_determination	1.08463361
57	MP0005187_abnormal_penis_morphology	1.07762592
58	MP0003119_abnormal_digestive_system	1.05966477
59	MP0000653_abnormal_sex_gland	1.04429217
60	MP0004043_abnormal_pH_regulation	1.02773359
61	MP0000579_abnormal_nail_morphology	1.01859751
62	MP0001119_abnormal_female_reproductive	1.01115092
63	MP0002752_abnormal_somatic_nervous	1.00522471
64	MP0001293_anophthalmia	1.00067291
65	MP0005410_abnormal_fertilization	0.98776295
66	MP0002557_abnormal_social/conspecific_i	0.96520266
67	MP0002127_abnormal_cardiovascular_syste	0.96444023
68	MP0003252_abnormal_bile_duct	0.95676142
69	MP0009046_muscle_twitch	0.95531242
70	MP0001486_abnormal_startle_reflex	0.94912893
71	MP0003111_abnormal_nucleus_morphology	0.94570198
72	MP0002184_abnormal_innervation	0.93334335
73	MP0005391_vision/eye_phenotype	0.92843953
74	MP0004742_abnormal_vestibular_system	0.91893202
75	MP0003698_abnormal_male_reproductive	0.89709895
76	MP0008872_abnormal_physiological_respon	0.88849307
77	MP0002249_abnormal_larynx_morphology	0.88215323
78	MP0001145_abnormal_male_reproductive	0.86591258
79	MP0003935_abnormal_craniofacial_develop	0.86135930
80	MP0002277_abnormal_respiratory_mucosa	0.86108707
81	MP0002160_abnormal_reproductive_system	0.85083548
82	MP0000647_abnormal_sebaceous_gland	0.83828904
83	MP0001764_abnormal_homeostasis	0.83781449
84	MP0002272_abnormal_nervous_system	0.81509386
85	MP0003567_abnormal_fetal_cardiomyocyte	0.80627426
86	MP0002138_abnormal_hepatobiliary_system	0.79941619
87	MP0003077_abnormal_cell_cycle	0.79479400
88	MP0005167_abnormal_blood-brain_barrier	0.79270191
89	MP0003806_abnormal_nucleotide_metabolis	0.78587934
90	MP0003195_calcinosis	0.78112111
91	MP0004147_increased_porphyrin_level	0.77810461
92	MP0005195_abnormal_posterior_eye	0.77561719
93	MP0000026_abnormal_inner_ear	0.77521680
94	MP0002938_white_spotting	0.77050182
95	MP0003693_abnormal_embryo_hatching	0.74316485
96	MP0002084_abnormal_developmental_patter	0.73271442
97	MP0002109_abnormal_limb_morphology	0.71681611
98	MP0002098_abnormal_vibrissa_morphology	0.70882550
99	MP0000428_abnormal_craniofacial_morphol	0.70525979
100	MP0003938_abnormal_ear_development	0.69128985

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Renal cortical cysts (HP:0000803)	4.54930895
2	Amyotrophic lateral sclerosis (HP:0007354)	3.97332681
3	Abnormality of the renal cortex (HP:0011035)	3.41688785
4	Chronic hepatic failure (HP:0100626)	3.27290558
5	Volvulus (HP:0002580)	3.21258799
6	True hermaphroditism (HP:0010459)	3.14595475
7	Disproportionate short-trunk short stature (HP:0003521)	3.05390714
8	Pancreatic cysts (HP:0001737)	3.02729331
9	Pancreatic fibrosis (HP:0100732)	2.90283655
10	Stomach cancer (HP:0012126)	2.87982122
11	Abnormality of midbrain morphology (HP:0002418)	2.85855364
12	Molar tooth sign on MRI (HP:0002419)	2.85855364
13	Vitreoretinal degeneration (HP:0000655)	2.76924453
14	Thyroid-stimulating hormone excess (HP:0002925)	2.75157089
15	Limb dystonia (HP:0002451)	2.75105089
16	Neoplasm of the adrenal gland (HP:0100631)	2.70048380
17	Neoplasm of the adrenal cortex (HP:0100641)	2.69878882
18	Abnormality of the labia minora (HP:0012880)	2.65757324
19	Limb hypertonia (HP:0002509)	2.62500051
20	Dyskinesia (HP:0100660)	2.61300256
21	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.58825727
22	Abnormality of the pons (HP:0007361)	2.57803047
23	3-Methylglutaconic aciduria (HP:0003535)	2.56588429
24	Atrophy/Degeneration involving motor neurons (HP:0007373)	2.54883620
25	Nephronophthisis (HP:0000090)	2.54447987
26	Medial flaring of the eyebrow (HP:0010747)	2.52946297
27	Glioma (HP:0009733)	2.52591600
28	Bifid tongue (HP:0010297)	2.47954753
29	Meckel diverticulum (HP:0002245)	2.46625031
30	Abnormality of the ileum (HP:0001549)	2.43000021
31	Abnormality of the renal medulla (HP:0100957)	2.38265807
32	Tubulointerstitial nephritis (HP:0001970)	2.33414881
33	Astrocytoma (HP:0009592)	2.31605769
34	Abnormality of the astrocytes (HP:0100707)	2.31605769
35	Rhabdomyosarcoma (HP:0002859)	2.30010604
36	Colon cancer (HP:0003003)	2.29691392
37	Abolished electroretinogram (ERG) (HP:0000550)	2.28384083
38	Keratoconus (HP:0000563)	2.28089899
39	Increased corneal curvature (HP:0100692)	2.28089899
40	Toxemia of pregnancy (HP:0100603)	2.25199963
41	Papillary thyroid carcinoma (HP:0002895)	2.21880231
42	Pendular nystagmus (HP:0012043)	2.19175418
43	Supernumerary spleens (HP:0009799)	2.16696268
44	Hyperglycinemia (HP:0002154)	2.14561601
45	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.11913162
46	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.10866329
47	B lymphocytopenia (HP:0010976)	2.09246307
48	Postaxial foot polydactyly (HP:0001830)	2.08584180
49	Abnormality of the preputium (HP:0100587)	2.08353046
50	Medulloblastoma (HP:0002885)	2.07572376
51	Abnormality of B cell number (HP:0010975)	2.07464543
52	Chorioretinal atrophy (HP:0000533)	2.05721178
53	Abnormality of the septum pellucidum (HP:0007375)	2.04957438
54	Neuroendocrine neoplasm (HP:0100634)	1.98899350
55	Pheochromocytoma (HP:0002666)	1.97017078
56	Absent septum pellucidum (HP:0001331)	1.96801927
57	Anencephaly (HP:0002323)	1.96150523
58	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.94463963
59	Thyroid carcinoma (HP:0002890)	1.93774792
60	Broad foot (HP:0001769)	1.93216129
61	Abnormality of chromosome stability (HP:0003220)	1.92792548
62	Postaxial hand polydactyly (HP:0001162)	1.92273214
63	Sclerocornea (HP:0000647)	1.91487524
64	Congenital hepatic fibrosis (HP:0002612)	1.89842425
65	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.89711669
66	Abnormality of alanine metabolism (HP:0010916)	1.89711669
67	Hyperalaninemia (HP:0003348)	1.89711669
68	Congenital primary aphakia (HP:0007707)	1.88249635
69	Astigmatism (HP:0000483)	1.88049895
70	Clubbing of toes (HP:0100760)	1.83119363
71	Increased CSF lactate (HP:0002490)	1.82859879
72	Abnormality of the renal collecting system (HP:0004742)	1.82236386
73	Hepatoblastoma (HP:0002884)	1.81525868
74	Gait imbalance (HP:0002141)	1.80414698
75	Widely spaced teeth (HP:0000687)	1.79951161
76	Preaxial foot polydactyly (HP:0001841)	1.78175577
77	Genital tract atresia (HP:0001827)	1.77346807
78	Male pseudohermaphroditism (HP:0000037)	1.77177489
79	Decreased testicular size (HP:0008734)	1.76640396
80	Menstrual irregularities (HP:0000858)	1.76398212
81	Stomatitis (HP:0010280)	1.75542830
82	Short tibia (HP:0005736)	1.74788265
83	Pancreatic islet-cell hyperplasia (HP:0004510)	1.74737406
84	Severe Myopia (HP:0011003)	1.73984792
85	Adrenal hypoplasia (HP:0000835)	1.73974695
86	Vaginal atresia (HP:0000148)	1.73818537
87	Clitoromegaly (HP:0000057)	1.73747059
88	Increased serum lactate (HP:0002151)	1.73226800
89	Arthropathy (HP:0003040)	1.72989093
90	Progressive inability to walk (HP:0002505)	1.71482124
91	Tented upper lip vermilion (HP:0010804)	1.69632892
92	Renal hypoplasia (HP:0000089)	1.69353893
93	High anterior hairline (HP:0009890)	1.68402281
94	Duplicated collecting system (HP:0000081)	1.67505528
95	Ependymoma (HP:0002888)	1.67287089
96	Preaxial hand polydactyly (HP:0001177)	1.67253974
97	Hip dysplasia (HP:0001385)	1.66485870
98	Hyperventilation (HP:0002883)	1.65935984
99	Partial agenesis of the corpus callosum (HP:0001338)	1.64632042
100	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.64548235

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BMPR1B	5.15180518
2	EIF2AK3	3.89726722
3	ZAK	3.68306441
4	ACVR1B	3.42004125
5	FRK	3.35834620
6	EPHA4	2.85383560
7	NUAK1	2.44318338
8	TGFBR1	2.40681590
9	MAP4K2	2.22311110
10	PBK	2.19224022
11	MAPKAPK3	2.06601385
12	PDK2	1.99162447
13	VRK1	1.83853470
14	MKNK1	1.75277819
15	BCR	1.67199175
16	TRIM28	1.60364735
17	NEK1	1.50027456
18	WNK3	1.48264826
19	MAPK13	1.46316307
20	MKNK2	1.45129399
21	ADRBK2	1.39005058
22	TAF1	1.38103547
23	TNIK	1.37423789
24	PLK3	1.31159382
25	BRSK2	1.30559604
26	STK39	1.29393077
27	PRKD3	1.28388731
28	PINK1	1.18568123
29	CSNK1G1	1.16426211
30	TSSK6	1.14989106
31	PNCK	1.10636827
32	TEC	1.10596067
33	MAP2K7	1.10252093
34	PASK	1.09385382
35	TLK1	1.06714159
36	PHKG1	1.05483008
37	PHKG2	1.05483008
38	CCNB1	1.04580843
39	MAPK15	1.01097130
40	MAP3K4	1.01059695
41	MUSK	0.98353587
42	EIF2AK2	0.95970626
43	EPHB2	0.95280697
44	LATS1	0.92888649
45	FLT3	0.90638741
46	BCKDK	0.90422330
47	CSNK1G3	0.87802176
48	OXSR1	0.86539287
49	SRPK1	0.86522652
50	LIMK1	0.86210131
51	WEE1	0.81217984
52	ITK	0.80760935
53	AKT3	0.78625276
54	PAK3	0.78457255
55	CSNK1A1L	0.78369695
56	FGFR2	0.76001732
57	ERBB3	0.75254295
58	FER	0.73778500
59	EIF2AK1	0.73363091
60	FGFR1	0.70402877
61	BRD4	0.68813067
62	ERBB2	0.68192070
63	PRKCE	0.65443333
64	PKN1	0.64934895
65	TAOK3	0.64027430
66	CSNK1G2	0.62033574
67	GRK1	0.59096974
68	SIK3	0.55204899
69	STK38L	0.55064558
70	PIK3CA	0.52478512
71	PLK1	0.52120625
72	BRSK1	0.51297789
73	INSRR	0.50296499
74	PRKCG	0.49551600
75	DAPK1	0.48883067
76	ADRBK1	0.48706065
77	SCYL2	0.48285350
78	TTK	0.46237242
79	MARK1	0.44557629
80	DYRK2	0.41137717
81	NLK	0.41002802
82	PLK4	0.40884051
83	WNK4	0.40735788
84	PRKCQ	0.39623560
85	BUB1	0.39182542
86	PKN2	0.39128408
87	MST4	0.38406577
88	SGK223	0.38369927
89	SGK494	0.38369927
90	NEK2	0.35895797
91	ATM	0.35855868
92	VRK2	0.35077881
93	NTRK2	0.33355424
94	ATR	0.33244709
95	OBSCN	0.31365343
96	CAMKK2	0.31117288
97	CLK1	0.30140597
98	FES	0.29165225
99	MARK3	0.28563966
100	SGK2	0.27932311

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	4.24406488
2	Protein export_Homo sapiens_hsa03060	3.93111871
3	Butanoate metabolism_Homo sapiens_hsa00650	3.01094596
4	Propanoate metabolism_Homo sapiens_hsa00640	2.67684825
5	Fanconi anemia pathway_Homo sapiens_hsa03460	2.49385022
6	Non-homologous end-joining_Homo sapiens_hsa03450	2.41286574
7	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.33286664
8	Proteasome_Homo sapiens_hsa03050	2.31730434
9	RNA polymerase_Homo sapiens_hsa03020	2.18933719
10	Basal transcription factors_Homo sapiens_hsa03022	2.17710008
11	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.16433707
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.91868111
13	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.82219543
14	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.79819378
15	Peroxisome_Homo sapiens_hsa04146	1.71321652
16	RNA degradation_Homo sapiens_hsa03018	1.63904643
17	Homologous recombination_Homo sapiens_hsa03440	1.62084151
18	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.61257566
19	Tryptophan metabolism_Homo sapiens_hsa00380	1.56895396
20	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.55438627
21	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.54890523
22	Phototransduction_Homo sapiens_hsa04744	1.48197971
23	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.43688324
24	Primary immunodeficiency_Homo sapiens_hsa05340	1.39392264
25	Spliceosome_Homo sapiens_hsa03040	1.37135368
26	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.31960187
27	Fatty acid elongation_Homo sapiens_hsa00062	1.28535908
28	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.24718724
29	Nitrogen metabolism_Homo sapiens_hsa00910	1.20832623
30	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.20082833
31	Steroid biosynthesis_Homo sapiens_hsa00100	1.16248828
32	RNA transport_Homo sapiens_hsa03013	1.15903032
33	Linoleic acid metabolism_Homo sapiens_hsa00591	1.12706441
34	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.11292896
35	Caffeine metabolism_Homo sapiens_hsa00232	1.09463691
36	Oxidative phosphorylation_Homo sapiens_hsa00190	1.08511062
37	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.06979332
38	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.06492741
39	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.06333534
40	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.03778095
41	Glycerolipid metabolism_Homo sapiens_hsa00561	1.03675106
42	Olfactory transduction_Homo sapiens_hsa04740	0.99225105
43	Nicotine addiction_Homo sapiens_hsa05033	0.97112095
44	beta-Alanine metabolism_Homo sapiens_hsa00410	0.97063751
45	Mismatch repair_Homo sapiens_hsa03430	0.95035257
46	Purine metabolism_Homo sapiens_hsa00230	0.93182331
47	Pyruvate metabolism_Homo sapiens_hsa00620	0.91822581
48	Base excision repair_Homo sapiens_hsa03410	0.89230608
49	Pyrimidine metabolism_Homo sapiens_hsa00240	0.87221383
50	Cell cycle_Homo sapiens_hsa04110	0.86020977
51	Lysine degradation_Homo sapiens_hsa00310	0.85043747
52	ABC transporters_Homo sapiens_hsa02010	0.84815861
53	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.83547527
54	Parkinsons disease_Homo sapiens_hsa05012	0.81444927
55	Ether lipid metabolism_Homo sapiens_hsa00565	0.81078960
56	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.80442032
57	Regulation of autophagy_Homo sapiens_hsa04140	0.77684448
58	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.76288536
59	Huntingtons disease_Homo sapiens_hsa05016	0.75374398
60	Wnt signaling pathway_Homo sapiens_hsa04310	0.68946373
61	p53 signaling pathway_Homo sapiens_hsa04115	0.68780030
62	Circadian rhythm_Homo sapiens_hsa04710	0.68661663
63	Axon guidance_Homo sapiens_hsa04360	0.68569407
64	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.67923616
65	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.67914750
66	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.67652053
67	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.67222159
68	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.66792084
69	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.62409980
70	Metabolic pathways_Homo sapiens_hsa01100	0.61891661
71	Fatty acid degradation_Homo sapiens_hsa00071	0.59777941
72	Selenocompound metabolism_Homo sapiens_hsa00450	0.57899486
73	GABAergic synapse_Homo sapiens_hsa04727	0.54952875
74	mRNA surveillance pathway_Homo sapiens_hsa03015	0.52318970
75	Fatty acid metabolism_Homo sapiens_hsa01212	0.51185201
76	DNA replication_Homo sapiens_hsa03030	0.51147418
77	Retinol metabolism_Homo sapiens_hsa00830	0.50827134
78	Oocyte meiosis_Homo sapiens_hsa04114	0.50801841
79	Nucleotide excision repair_Homo sapiens_hsa03420	0.49702670
80	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.47536220
81	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.46226026
82	Folate biosynthesis_Homo sapiens_hsa00790	0.45640967
83	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.42738648
84	Chemical carcinogenesis_Homo sapiens_hsa05204	0.42183260
85	Fat digestion and absorption_Homo sapiens_hsa04975	0.41664907
86	Hippo signaling pathway_Homo sapiens_hsa04390	0.41474623
87	Mineral absorption_Homo sapiens_hsa04978	0.41063195
88	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.38503524
89	Taste transduction_Homo sapiens_hsa04742	0.38090784
90	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.36121936
91	Morphine addiction_Homo sapiens_hsa05032	0.34454793
92	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.33754501
93	Antigen processing and presentation_Homo sapiens_hsa04612	0.31568279
94	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.31025304
95	One carbon pool by folate_Homo sapiens_hsa00670	0.30707524
96	Glutathione metabolism_Homo sapiens_hsa00480	0.29436994
97	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.29224969
98	Basal cell carcinoma_Homo sapiens_hsa05217	0.26158200
99	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.25214480
100	Salivary secretion_Homo sapiens_hsa04970	0.24346310

PNPT1P1

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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