ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	lens fiber cell development (GO:0070307)	9.73385886
2	lung epithelium development (GO:0060428)	9.61474894
3	metanephric tubule development (GO:0072170)	8.59435822
4	metanephric nephron tubule development (GO:0072234)	8.59435822
5	kidney morphogenesis (GO:0060993)	8.54496857
6	collecting duct development (GO:0072044)	8.38663728
7	lung-associated mesenchyme development (GO:0060484)	8.06520737
8	cartilage morphogenesis (GO:0060536)	7.84642664
9	metanephric nephron epithelium development (GO:0072243)	7.72090029
10	metanephric epithelium development (GO:0072207)	7.22062815
11	anatomical structure regression (GO:0060033)	6.98759157
12	lung morphogenesis (GO:0060425)	6.49567374
13	DNA ligation (GO:0006266)	5.39317395
14	DNA deamination (GO:0045006)	5.29595728
15	cytidine metabolic process (GO:0046087)	5.06990397
16	cytidine catabolic process (GO:0006216)	5.06990397
17	cytidine deamination (GO:0009972)	5.06990397
18	nephron tubule development (GO:0072080)	5.03336798
19	T cell migration (GO:0072678)	4.85047106
20	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	4.76915580
21	renal tubule development (GO:0061326)	4.46713843
22	base-excision repair, AP site formation (GO:0006285)	4.45850055
23	apoptotic process involved in morphogenesis (GO:0060561)	4.45444471
24	pyrimidine ribonucleoside catabolic process (GO:0046133)	4.33413573
25	nephron epithelium development (GO:0072009)	4.04157195
26	nonmotile primary cilium assembly (GO:0035058)	3.97175058
27	negative regulation of execution phase of apoptosis (GO:1900118)	3.86454670
28	positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)	3.83874511
29	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.82222504
30	protein-cofactor linkage (GO:0018065)	3.77586214
31	apoptotic process involved in development (GO:1902742)	3.63118436
32	mismatch repair (GO:0006298)	3.54292759
33	central nervous system myelination (GO:0022010)	3.45658024
34	axon ensheathment in central nervous system (GO:0032291)	3.45658024
35	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.43363876
36	DNA dealkylation (GO:0035510)	3.41761471
37	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.37660713
38	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.33524929
39	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.33524929
40	developmental programmed cell death (GO:0010623)	3.26041900
41	negative regulation of thymocyte apoptotic process (GO:0070244)	3.22565399
42	positive regulation of cell fate commitment (GO:0010455)	3.20782527
43	male meiosis (GO:0007140)	3.16651130
44	pyrimidine nucleotide catabolic process (GO:0006244)	3.14333577
45	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.11198290
46	regulation of B cell differentiation (GO:0045577)	3.10037777
47	telomere maintenance via semi-conservative replication (GO:0032201)	3.06071683
48	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.01011013
49	positive regulation of B cell differentiation (GO:0045579)	3.00585806
50	telomere maintenance via recombination (GO:0000722)	2.97454803
51	negative regulation of T cell apoptotic process (GO:0070233)	2.94791551
52	pseudouridine synthesis (GO:0001522)	2.94672217
53	smooth muscle cell differentiation (GO:0051145)	2.92513929
54	mucosal-associated lymphoid tissue development (GO:0048537)	2.90154195
55	Peyers patch development (GO:0048541)	2.90154195
56	regulation of mesoderm development (GO:2000380)	2.89861116
57	nucleotide-excision repair, DNA gap filling (GO:0006297)	2.89689032
58	regulation of gamma-delta T cell differentiation (GO:0045586)	2.83422895
59	viral transcription (GO:0019083)	2.82836081
60	deoxyribonucleotide catabolic process (GO:0009264)	2.81584765
61	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.80438902
62	non-recombinational repair (GO:0000726)	2.79843068
63	double-strand break repair via nonhomologous end joining (GO:0006303)	2.79843068
64	regulation of antigen processing and presentation of peptide antigen (GO:0002583)	2.79106163
65	lymphocyte migration (GO:0072676)	2.77527494
66	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	2.77108840
67	DNA demethylation (GO:0080111)	2.76391679
68	behavioral response to nicotine (GO:0035095)	2.75790863
69	positive regulation of gamma-delta T cell activation (GO:0046645)	2.75602619
70	translational termination (GO:0006415)	2.75521726
71	V(D)J recombination (GO:0033151)	2.74564538
72	negative regulation by host of viral transcription (GO:0043922)	2.74413014
73	response to interleukin-15 (GO:0070672)	2.74064289
74	male meiosis I (GO:0007141)	2.73707754
75	ATP synthesis coupled proton transport (GO:0015986)	2.71206551
76	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.71206551
77	lymphocyte chemotaxis (GO:0048247)	2.71182861
78	deoxyribose phosphate catabolic process (GO:0046386)	2.62631396
79	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.61526193
80	termination of RNA polymerase III transcription (GO:0006386)	2.61526193
81	rRNA catabolic process (GO:0016075)	2.58324324
82	dendritic cell chemotaxis (GO:0002407)	2.57691312
83	protein targeting to ER (GO:0045047)	2.54370260
84	cellular response to interleukin-15 (GO:0071350)	2.54188615
85	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.53343625
86	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.53195424
87	DNA strand elongation involved in DNA replication (GO:0006271)	2.52472904
88	negative regulation of smoothened signaling pathway (GO:0045879)	2.51540982
89	dentate gyrus development (GO:0021542)	2.49875799
90	transcription-coupled nucleotide-excision repair (GO:0006283)	2.49795857
91	grooming behavior (GO:0007625)	2.48120520
92	cotranslational protein targeting to membrane (GO:0006613)	2.46026990
93	platelet dense granule organization (GO:0060155)	2.45175865
94	ribosomal small subunit biogenesis (GO:0042274)	2.44937703
95	maturation of SSU-rRNA (GO:0030490)	2.43678008
96	base-excision repair (GO:0006284)	2.42490115
97	purine nucleobase biosynthetic process (GO:0009113)	2.41726010
98	DNA strand elongation (GO:0022616)	2.41624389
99	mitotic recombination (GO:0006312)	2.41155310
100	respiratory tube development (GO:0030323)	11.1656231

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	8.76358375
2	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	8.12037312
3	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	5.01749963
4	E2F7_22180533_ChIP-Seq_HELA_Human	4.19043883
5	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.89466624
6	BP1_19119308_ChIP-ChIP_Hs578T_Human	3.74583020
7	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.90070771
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.81585467
9	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.52681461
10	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.39720005
11	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.34851483
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.32352939
13	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	2.22764927
14	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	2.18934753
15	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.18465999
16	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.13119685
17	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.05071370
18	VDR_23849224_ChIP-Seq_CD4+_Human	2.02706442
19	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.93408380
20	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.90876085
21	GATA1_22025678_ChIP-Seq_K562_Human	1.88950252
22	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.71815905
23	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.70320162
24	SCL_19346495_ChIP-Seq_HPC-7_Human	1.68809288
25	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.67994809
26	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.65981983
27	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.65879656
28	FOXP3_21729870_ChIP-Seq_TREG_Human	1.64595065
29	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.60150035
30	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.59004051
31	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.47300181
32	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.44735228
33	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	1.41102890
34	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.33095710
35	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.29153051
36	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.27013140
37	CIITA_25753668_ChIP-Seq_RAJI_Human	1.25833312
38	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.25349676
39	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.24414262
40	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.21871061
41	EWS_26573619_Chip-Seq_HEK293_Human	1.18980570
42	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.18867537
43	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.18867008
44	BCL6_27268052_Chip-Seq_Bcells_Human	1.15408869
45	UTX_26944678_Chip-Seq_JUKART_Human	1.15317989
46	XRN2_22483619_ChIP-Seq_HELA_Human	1.14660103
47	MYB_26560356_Chip-Seq_TH2_Human	1.12048513
48	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.11470673
49	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.09259564
50	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.07004445
51	TAF2_19829295_ChIP-Seq_ESCs_Human	1.06666398
52	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.06584650
53	IGF1R_20145208_ChIP-Seq_DFB_Human	1.04821984
54	MYC_19829295_ChIP-Seq_ESCs_Human	1.04552616
55	GATA3_26560356_Chip-Seq_TH2_Human	1.03785642
56	STAT4_19710469_ChIP-ChIP_TH1__Mouse	1.02662879
57	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	0.97674959
58	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.97633520
59	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.95467416
60	TTF2_22483619_ChIP-Seq_HELA_Human	0.95095257
61	E2F1_21310950_ChIP-Seq_MCF-7_Human	0.94277739
62	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.94000214
63	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.93476302
64	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.93476302
65	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.93278963
66	GABP_19822575_ChIP-Seq_HepG2_Human	0.93161290
67	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.90542407
68	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.90385086
69	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.90317653
70	P68_20966046_ChIP-Seq_HELA_Human	0.89845698
71	MAF_26560356_Chip-Seq_TH2_Human	0.88606896
72	GATA3_27048872_Chip-Seq_THYMUS_Human	0.86787007
73	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	0.86419643
74	FUS_26573619_Chip-Seq_HEK293_Human	0.83839274
75	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.82963691
76	ERG_20517297_ChIP-Seq_VCAP_Human	0.81839348
77	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	0.81359799
78	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.80975129
79	NANOG_20526341_ChIP-Seq_ESCs_Human	0.80497318
80	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.79820257
81	MYC_18940864_ChIP-ChIP_HL60_Human	0.79496913
82	SPI1_23547873_ChIP-Seq_NB4_Human	0.79307310
83	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.79114070
84	FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	0.78719501
85	E2F1_20622854_ChIP-Seq_HELA_Human	0.77626972
86	CREB1_15753290_ChIP-ChIP_HEK293T_Human	0.76816380
87	TP53_22573176_ChIP-Seq_HFKS_Human	0.75041784
88	ERA_21632823_ChIP-Seq_H3396_Human	0.74428906
89	GATA3_21867929_ChIP-Seq_TH1_Mouse	0.73559548
90	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.72654487
91	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.72595992
92	P300_27268052_Chip-Seq_Bcells_Human	0.72489213
93	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.72024172
94	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.71844821
95	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	0.71469452
96	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.71446301
97	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.70715733
98	VDR_21846776_ChIP-Seq_THP-1_Human	0.70684258
99	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	0.68282851
100	CTCF_20526341_ChIP-Seq_ESCs_Human	0.67792075

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001346_abnormal_lacrimal_gland	6.86909294
2	MP0010030_abnormal_orbit_morphology	5.64036852
3	MP0005646_abnormal_pituitary_gland	5.19048934
4	MP0005248_abnormal_Harderian_gland	4.39646807
5	MP0008057_abnormal_DNA_replication	4.07910353
6	MP0002102_abnormal_ear_morphology	3.43509354
7	MP0009379_abnormal_foot_pigmentation	3.11528903
8	MP0002653_abnormal_ependyma_morphology	2.81583585
9	MP0005174_abnormal_tail_pigmentation	2.80738789
10	MP0001348_abnormal_lacrimal_gland	2.42029619
11	MP0009278_abnormal_bone_marrow	2.39311696
12	MP0010094_abnormal_chromosome_stability	2.37654796
13	MP0000015_abnormal_ear_pigmentation	2.31562373
14	MP0005075_abnormal_melanosome_morpholog	2.21173567
15	MP0000372_irregular_coat_pigmentation	2.18090133
16	MP0002163_abnormal_gland_morphology	2.14642167
17	MP0005671_abnormal_response_to	2.12188565
18	MP0009840_abnormal_foam_cell	2.01033234
19	MP0002095_abnormal_skin_pigmentation	1.75245206
20	MP0009333_abnormal_splenocyte_physiolog	1.65283079
21	MP0002938_white_spotting	1.63380006
22	MP0000569_abnormal_digit_pigmentation	1.63264991
23	MP0003283_abnormal_digestive_organ	1.61696660
24	MP0004145_abnormal_muscle_electrophysio	1.52790139
25	MP0002148_abnormal_hypersensitivity_rea	1.52554283
26	MP0009785_altered_susceptibility_to	1.49317636
27	MP0008875_abnormal_xenobiotic_pharmacok	1.35019439
28	MP0008789_abnormal_olfactory_epithelium	1.32577430
29	MP0000685_abnormal_immune_system	1.30293874
30	MP0003693_abnormal_embryo_hatching	1.28865933
31	MP0003763_abnormal_thymus_physiology	1.28211106
32	MP0002295_abnormal_pulmonary_circulatio	1.27963280
33	MP0005464_abnormal_platelet_physiology	1.26632452
34	MP0001835_abnormal_antigen_presentation	1.25789269
35	MP0001984_abnormal_olfaction	1.24446606
36	MP0004147_increased_porphyrin_level	1.22752691
37	MP0005379_endocrine/exocrine_gland_phen	1.17746751
38	MP0001293_anophthalmia	1.12305614
39	MP0004885_abnormal_endolymph	1.08584697
40	MP0008877_abnormal_DNA_methylation	1.07908430
41	MP0001800_abnormal_humoral_immune	1.06924923
42	MP0001663_abnormal_digestive_system	1.06252772
43	MP0003111_abnormal_nucleus_morphology	1.01112679
44	MP0005394_taste/olfaction_phenotype	0.98790954
45	MP0005499_abnormal_olfactory_system	0.98790954
46	MP0005025_abnormal_response_to	0.97541359
47	MP0009697_abnormal_copulation	0.96301909
48	MP0003252_abnormal_bile_duct	0.95126704
49	MP0008007_abnormal_cellular_replicative	0.94536360
50	MP0004742_abnormal_vestibular_system	0.92289832
51	MP0008872_abnormal_physiological_respon	0.91480810
52	MP0006292_abnormal_olfactory_placode	0.90613688
53	MP0002420_abnormal_adaptive_immunity	0.89353016
54	MP0003878_abnormal_ear_physiology	0.89303941
55	MP0005377_hearing/vestibular/ear_phenot	0.89303941
56	MP0001545_abnormal_hematopoietic_system	0.89109597
57	MP0005397_hematopoietic_system_phenotyp	0.89109597
58	MP0002166_altered_tumor_susceptibility	0.89042288
59	MP0003632_abnormal_nervous_system	0.88726093
60	MP0003329_amyloid_beta_deposits	0.86639792
61	MP0001819_abnormal_immune_cell	0.86279430
62	MP0002723_abnormal_immune_serum	0.86169789
63	MP0002405_respiratory_system_inflammati	0.84849211
64	MP0005195_abnormal_posterior_eye	0.84467415
65	MP0002837_dystrophic_cardiac_calcinosis	0.82977706
66	MP0002092_abnormal_eye_morphology	0.81790056
67	MP0005253_abnormal_eye_physiology	0.81308762
68	MP0005197_abnormal_uvea_morphology	0.81137756
69	MP0006082_CNS_inflammation	0.80334396
70	MP0005391_vision/eye_phenotype	0.79343174
71	MP0005387_immune_system_phenotype	0.78895739
72	MP0001790_abnormal_immune_system	0.78895739
73	MP0002006_tumorigenesis	0.78655616
74	MP0005000_abnormal_immune_tolerance	0.77958079
75	MP0003786_premature_aging	0.77356820
76	MP0002876_abnormal_thyroid_physiology	0.76877649
77	MP0002398_abnormal_bone_marrow	0.76792795
78	MP0002722_abnormal_immune_system	0.74075401
79	MP0005410_abnormal_fertilization	0.73715268
80	MP0002210_abnormal_sex_determination	0.73607846
81	MP0005551_abnormal_eye_electrophysiolog	0.73033996
82	MP0001119_abnormal_female_reproductive	0.72961604
83	MP0003045_fibrosis	0.72893208
84	MP0000026_abnormal_inner_ear	0.72607745
85	MP0000604_amyloidosis	0.72547907
86	MP0010155_abnormal_intestine_physiology	0.71784671
87	MP0002452_abnormal_antigen_presenting	0.69953321
88	MP0003448_altered_tumor_morphology	0.69790091
89	MP0002419_abnormal_innate_immunity	0.67758993
90	MP0000681_abnormal_thyroid_gland	0.67444650
91	MP0000703_abnormal_thymus_morphology	0.65988069
92	MP0002429_abnormal_blood_cell	0.65981640
93	MP0000716_abnormal_immune_system	0.65414192
94	MP0008770_decreased_survivor_rate	0.65059762
95	MP0001324_abnormal_eye_pigmentation	0.63882444
96	MP0001929_abnormal_gametogenesis	0.63319502
97	MP0009384_cardiac_valve_regurgitation	0.62615441
98	MP0003638_abnormal_response/metabolism_	0.61034583
99	MP0010386_abnormal_urinary_bladder	0.58427625
100	MP0000689_abnormal_spleen_morphology	0.56950979

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Decreased central vision (HP:0007663)	8.96316325
2	Dyschromatopsia (HP:0007641)	6.70784211
3	Aplasia/Hypoplasia of the sacrum (HP:0008517)	4.77253632
4	True hermaphroditism (HP:0010459)	4.45586946
5	Attenuation of retinal blood vessels (HP:0007843)	4.09385090
6	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.96486311
7	Decreased electroretinogram (ERG) amplitude (HP:0000654)	3.86649841
8	Mesangial abnormality (HP:0001966)	3.59507878
9	Pendular nystagmus (HP:0012043)	3.48950794
10	Lipid accumulation in hepatocytes (HP:0006561)	3.41296322
11	Aplastic anemia (HP:0001915)	3.40514015
12	Agammaglobulinemia (HP:0004432)	3.34425870
13	Increased hepatocellular lipid droplets (HP:0006565)	3.23980109
14	Pancreatic fibrosis (HP:0100732)	3.20587603
15	Abnormality of cells of the erythroid lineage (HP:0012130)	3.11524370
16	Thyroiditis (HP:0100646)	2.96533887
17	Abnormal rod and cone electroretinograms (HP:0008323)	2.91545930
18	Stomatitis (HP:0010280)	2.87158181
19	Severe combined immunodeficiency (HP:0004430)	2.79830907
20	Severe visual impairment (HP:0001141)	2.74734212
21	Pancreatic cysts (HP:0001737)	2.71540235
22	T lymphocytopenia (HP:0005403)	2.68861258
23	IgG deficiency (HP:0004315)	2.66280206
24	Abnormality of the renal cortex (HP:0011035)	2.63383241
25	Renal Fanconi syndrome (HP:0001994)	2.60388174
26	Keratoconus (HP:0000563)	2.59743132
27	Increased corneal curvature (HP:0100692)	2.59743132
28	Abnormality of T cell number (HP:0011839)	2.59321667
29	Increased CSF lactate (HP:0002490)	2.58111255
30	Autoimmune thrombocytopenia (HP:0001973)	2.57527765
31	Hypoplasia of the thymus (HP:0000778)	2.56795876
32	Combined immunodeficiency (HP:0005387)	2.55274170
33	3-Methylglutaconic aciduria (HP:0003535)	2.53773768
34	Recurrent viral infections (HP:0004429)	2.49825981
35	Abnormal number of erythroid precursors (HP:0012131)	2.49722684
36	Renal cortical cysts (HP:0000803)	2.47345606
37	Mitochondrial inheritance (HP:0001427)	2.41291664
38	Neoplasm of the adrenal cortex (HP:0100641)	2.40129433
39	Abnormality of eosinophils (HP:0001879)	2.39180655
40	Hypoproteinemia (HP:0003075)	2.35624532
41	Sex reversal (HP:0012245)	2.34466708
42	Abnormal sex determination (HP:0012244)	2.34466708
43	Metabolic alkalosis (HP:0200114)	2.31606174
44	Exertional dyspnea (HP:0002875)	2.30395644
45	Abolished electroretinogram (ERG) (HP:0000550)	2.30355975
46	Anencephaly (HP:0002323)	2.29234023
47	Abnormality of T cells (HP:0002843)	2.28108557
48	Increased intramyocellular lipid droplets (HP:0012240)	2.26333040
49	Autoimmune hemolytic anemia (HP:0001890)	2.23660574
50	Palpebral edema (HP:0100540)	2.23151368
51	Recurrent cutaneous fungal infections (HP:0011370)	2.22360296
52	Chronic mucocutaneous candidiasis (HP:0002728)	2.22360296
53	Recurrent fungal infections (HP:0002841)	2.21893352
54	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.20982493
55	B lymphocytopenia (HP:0010976)	2.20003142
56	Increased muscle lipid content (HP:0009058)	2.19554490
57	Gonadal dysgenesis (HP:0000133)	2.19472527
58	Panhypogammaglobulinemia (HP:0003139)	2.19339458
59	Spinal muscular atrophy (HP:0007269)	2.18857413
60	Type II lissencephaly (HP:0007260)	2.17906437
61	Abnormality of B cell number (HP:0010975)	2.14087712
62	Duplicated collecting system (HP:0000081)	2.13226246
63	Abnormality of cochlea (HP:0000375)	2.10234916
64	Acute necrotizing encephalopathy (HP:0006965)	2.09029259
65	Hyponatremia (HP:0002902)	2.08570218
66	Trigonocephaly (HP:0000243)	2.05523884
67	Absent thumb (HP:0009777)	2.01204620
68	Cystic liver disease (HP:0006706)	1.99287482
69	Abnormality of the renal collecting system (HP:0004742)	1.97784237
70	Abnormality of the renal medulla (HP:0100957)	1.97101039
71	Oligodactyly (hands) (HP:0001180)	1.96783319
72	Chronic diarrhea (HP:0002028)	1.95633955
73	Hypokalemic alkalosis (HP:0001949)	1.92390188
74	Acute encephalopathy (HP:0006846)	1.91600533
75	Hypertensive crisis (HP:0100735)	1.90997416
76	Large eyes (HP:0001090)	1.89201747
77	Amelogenesis imperfecta (HP:0000705)	1.88551375
78	Molar tooth sign on MRI (HP:0002419)	1.88055160
79	Abnormality of midbrain morphology (HP:0002418)	1.88055160
80	Postaxial foot polydactyly (HP:0001830)	1.88041146
81	IgM deficiency (HP:0002850)	1.86847658
82	Colon cancer (HP:0003003)	1.82773008
83	Neoplasm of the adrenal gland (HP:0100631)	1.82273950
84	Aplasia/Hypoplasia of the thymus (HP:0010515)	1.81188119
85	Eosinophilia (HP:0001880)	1.81044784
86	Birth length less than 3rd percentile (HP:0003561)	1.80620560
87	Hypoalbuminemia (HP:0003073)	1.80075624
88	Abnormal albumin level (HP:0012116)	1.80075624
89	Medial flaring of the eyebrow (HP:0010747)	1.79406910
90	Increased serum lactate (HP:0002151)	1.79159819
91	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.78387182
92	Abnormal mitochondria in muscle tissue (HP:0008316)	1.77529689
93	Male pseudohermaphroditism (HP:0000037)	1.76752389
94	Abnormal delayed hypersensitivity skin test (HP:0002963)	1.76267835
95	Neonatal respiratory distress (HP:0002643)	1.76257663
96	Progressive macrocephaly (HP:0004481)	1.75801329
97	Nephronophthisis (HP:0000090)	1.75757332
98	Pulmonary fibrosis (HP:0002206)	1.74066992
99	Furrowed tongue (HP:0000221)	1.72717754
100	Delayed closure of the anterior fontanelle (HP:0001476)	1.69419518

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAOK3	8.35658892
2	ZAK	3.15567078
3	CDC7	2.84468449
4	MAP4K1	2.64391475
5	FRK	2.30645595
6	VRK2	2.26318633
7	CDK8	2.23880992
8	TESK2	2.18255663
9	MST4	1.95867960
10	BCKDK	1.94111026
11	KDR	1.82453675
12	MAP4K2	1.81600494
13	ITK	1.80616898
14	NME2	1.73830529
15	TLK1	1.70251578
16	BMPR1B	1.64119706
17	EIF2AK1	1.63103873
18	GRK1	1.60315682
19	PLK4	1.58752998
20	GRK6	1.57893704
21	PIK3CA	1.48206746
22	ADRBK2	1.41445547
23	KIT	1.31283700
24	AURKB	1.29382405
25	BCR	1.28647390
26	MATK	1.27438528
27	ATR	1.27283178
28	FLT3	1.21767155
29	TNK2	1.19878870
30	VRK1	1.19720111
31	EIF2AK3	1.14903895
32	PLK3	1.13009640
33	PRKCQ	1.10773531
34	MAPK15	1.09349098
35	IKBKB	1.09338108
36	PASK	1.09310082
37	TIE1	1.08635650
38	SYK	1.08301854
39	PLK2	1.01312862
40	TEC	0.97862654
41	TGFBR1	0.95347200
42	PRKCH	0.92906996
43	DYRK1B	0.91449716
44	ADRBK1	0.87888198
45	MAPK13	0.86316306
46	TXK	0.84842087
47	RIPK1	0.80939598
48	PRKD3	0.80164498
49	MAP2K2	0.78847823
50	TTK	0.78479506
51	TSSK6	0.76182719
52	NEK1	0.75732349
53	LYN	0.75650145
54	WNK3	0.71241408
55	CHEK2	0.68372348
56	TBK1	0.68000277
57	MAPK11	0.67986130
58	WNK4	0.66883746
59	LCK	0.65717734
60	CAMKK2	0.59822323
61	GRK5	0.59682552
62	BUB1	0.58615732
63	PLK1	0.58487371
64	CSNK2A1	0.58429170
65	TYK2	0.58340303
66	JAK3	0.57494993
67	INSRR	0.55277596
68	MAPKAPK3	0.55193061
69	IKBKE	0.55112842
70	RIPK4	0.55001429
71	CSNK2A2	0.54652415
72	TRPM7	0.54060856
73	BTK	0.52914947
74	IRAK3	0.52772200
75	ATM	0.49042653
76	BLK	0.48995208
77	NUAK1	0.48690915
78	MAP3K8	0.47912982
79	MKNK2	0.47528152
80	DAPK2	0.46478885
81	LRRK2	0.45301285
82	PRKCA	0.44970456
83	OBSCN	0.44670965
84	MUSK	0.43756243
85	PRKCE	0.43515549
86	PBK	0.42560059
87	DAPK1	0.41197863
88	STK10	0.41028616
89	AURKA	0.39694119
90	TGFBR2	0.39515288
91	CAMK2A	0.37695620
92	PIK3CG	0.36729883
93	RPS6KB2	0.36236458
94	PRKCD	0.35384080
95	MAP3K13	0.33182731
96	FGFR2	0.32697177
97	FGFR1	0.32624075
98	CSK	0.32605967
99	PRKACA	0.32118915
100	CDK4	0.31894299

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Mismatch repair_Homo sapiens_hsa03430	3.82399081
2	Primary immunodeficiency_Homo sapiens_hsa05340	3.65255640
3	Base excision repair_Homo sapiens_hsa03410	3.07857418
4	Ribosome_Homo sapiens_hsa03010	3.04015450
5	DNA replication_Homo sapiens_hsa03030	3.01857883
6	Homologous recombination_Homo sapiens_hsa03440	2.89912976
7	One carbon pool by folate_Homo sapiens_hsa00670	2.76897512
8	Proteasome_Homo sapiens_hsa03050	2.59943251
9	Nucleotide excision repair_Homo sapiens_hsa03420	2.42469018
10	Oxidative phosphorylation_Homo sapiens_hsa00190	2.37678781
11	RNA polymerase_Homo sapiens_hsa03020	2.31742790
12	Parkinsons disease_Homo sapiens_hsa05012	2.28170008
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.20037684
14	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	2.15831296
15	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.14167977
16	Allograft rejection_Homo sapiens_hsa05330	2.10608630
17	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.96100533
18	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.95317017
19	Protein export_Homo sapiens_hsa03060	1.91938939
20	Nitrogen metabolism_Homo sapiens_hsa00910	1.91582369
21	Graft-versus-host disease_Homo sapiens_hsa05332	1.88637219
22	Phototransduction_Homo sapiens_hsa04744	1.75968079
23	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.65026724
24	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.63050516
25	RNA degradation_Homo sapiens_hsa03018	1.52204741
26	Type I diabetes mellitus_Homo sapiens_hsa04940	1.50739146
27	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.46535990
28	Asthma_Homo sapiens_hsa05310	1.45181898
29	Huntingtons disease_Homo sapiens_hsa05016	1.44567037
30	Antigen processing and presentation_Homo sapiens_hsa04612	1.35668920
31	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.24781984
32	Pyrimidine metabolism_Homo sapiens_hsa00240	1.14809385
33	Purine metabolism_Homo sapiens_hsa00230	1.14345939
34	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.13305751
35	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.09659272
36	Alzheimers disease_Homo sapiens_hsa05010	1.08438494
37	Cardiac muscle contraction_Homo sapiens_hsa04260	1.06691867
38	Hematopoietic cell lineage_Homo sapiens_hsa04640	1.06157415
39	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.05536302
40	Fanconi anemia pathway_Homo sapiens_hsa03460	0.95455658
41	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.91769047
42	Basal transcription factors_Homo sapiens_hsa03022	0.90713772
43	Peroxisome_Homo sapiens_hsa04146	0.88426571
44	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.88062735
45	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.87688625
46	Basal cell carcinoma_Homo sapiens_hsa05217	0.87626752
47	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.87533771
48	Sulfur relay system_Homo sapiens_hsa04122	0.87383479
49	Spliceosome_Homo sapiens_hsa03040	0.85820916
50	Fatty acid degradation_Homo sapiens_hsa00071	0.82066773
51	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.80280317
52	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.79068442
53	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.75420170
54	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.74009937
55	Non-homologous end-joining_Homo sapiens_hsa03450	0.73791607
56	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.72606561
57	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.72341487
58	Linoleic acid metabolism_Homo sapiens_hsa00591	0.71531363
59	Ether lipid metabolism_Homo sapiens_hsa00565	0.71424677
60	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.71136714
61	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.70240998
62	Butanoate metabolism_Homo sapiens_hsa00650	0.69699734
63	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.69317350
64	Rheumatoid arthritis_Homo sapiens_hsa05323	0.67077426
65	HTLV-I infection_Homo sapiens_hsa05166	0.66141031
66	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.63363915
67	Galactose metabolism_Homo sapiens_hsa00052	0.62931061
68	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.59848546
69	Arginine biosynthesis_Homo sapiens_hsa00220	0.59225540
70	Viral myocarditis_Homo sapiens_hsa05416	0.59040495
71	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.57900481
72	Regulation of autophagy_Homo sapiens_hsa04140	0.55908512
73	RNA transport_Homo sapiens_hsa03013	0.52366531
74	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.50938695
75	Fatty acid metabolism_Homo sapiens_hsa01212	0.50796188
76	Metabolic pathways_Homo sapiens_hsa01100	0.48885394
77	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.47562306
78	Propanoate metabolism_Homo sapiens_hsa00640	0.47054069
79	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.45658027
80	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.44509260
81	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.40650442
82	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.40588666
83	Cell cycle_Homo sapiens_hsa04110	0.38367266
84	Steroid biosynthesis_Homo sapiens_hsa00100	0.38269335
85	Fatty acid elongation_Homo sapiens_hsa00062	0.30323294
86	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.28872011
87	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.28572780
88	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.27056546
89	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.25078059
90	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.23194737
91	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.22994554
92	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.21973724
93	Mineral absorption_Homo sapiens_hsa04978	0.20939851
94	Retinol metabolism_Homo sapiens_hsa00830	0.20188917
95	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.20169435
96	Lysosome_Homo sapiens_hsa04142	0.19726823
97	Olfactory transduction_Homo sapiens_hsa04740	0.19692674
98	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.18126652
99	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.16904886
100	Chemical carcinogenesis_Homo sapiens_hsa05204	0.16369228

PRPF38AP2

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »