PRCP

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1endothelium development (GO:0003158)6.22647054
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.15342096
3positive regulation of vasculogenesis (GO:2001214)4.16547945
4lymphangiogenesis (GO:0001946)4.15382023
5neutrophil activation involved in immune response (GO:0002283)4.07139495
6blood vessel maturation (GO:0001955)4.00046387
7cellular response to ATP (GO:0071318)3.97779771
8water-soluble vitamin biosynthetic process (GO:0042364)3.97067394
9modulation by symbiont of host immune response (GO:0052553)3.87859460
10positive regulation by symbiont of host defense response (GO:0052509)3.87859460
11modulation by symbiont of host defense response (GO:0052031)3.87859460
12modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.87859460
13modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.87859460
14positive regulation by organism of defense response of other organism involved in symbiotic interact3.87859460
15ribosomal small subunit assembly (GO:0000028)3.86638743
16regulation of vasculogenesis (GO:2001212)3.85125873
17retina vasculature morphogenesis in camera-type eye (GO:0061299)3.79668711
18antigen processing and presentation of endogenous antigen (GO:0019883)3.67977492
19immunoglobulin mediated immune response (GO:0016064)3.64002979
20morphogenesis of an endothelium (GO:0003159)3.61343869
21endothelial tube morphogenesis (GO:0061154)3.61343869
22negative regulation of platelet activation (GO:0010544)3.58423491
23regulation of B cell receptor signaling pathway (GO:0050855)3.54616727
24regulation of chemokine-mediated signaling pathway (GO:0070099)3.52827643
25antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.50030620
26antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.50030620
27definitive hemopoiesis (GO:0060216)3.43147376
28negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.39603619
29sulfation (GO:0051923)3.37874477
30regulation of glomerulus development (GO:0090192)3.37585636
31regulation of phospholipid biosynthetic process (GO:0071071)3.34128607
32positive regulation of B cell differentiation (GO:0045579)3.32985057
33myeloid dendritic cell activation (GO:0001773)3.32520763
34response to muramyl dipeptide (GO:0032495)3.31641718
35response to interferon-beta (GO:0035456)3.30857167
36response to peptidoglycan (GO:0032494)3.30695216
37regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.28693140
38positive regulation of interferon-alpha production (GO:0032727)3.27168757
39positive regulation of antigen processing and presentation (GO:0002579)3.26348701
40neutrophil activation (GO:0042119)3.26108325
41positive regulation of gamma-delta T cell activation (GO:0046645)3.24962288
42regulation of interferon-beta biosynthetic process (GO:0045357)3.21791618
43regulation of cholesterol storage (GO:0010885)3.19759399
44regulation of sequestering of triglyceride (GO:0010889)3.17027118
45endothelial cell differentiation (GO:0045446)3.14580051
46keratan sulfate catabolic process (GO:0042340)3.09279338
47positive regulation of endothelial cell differentiation (GO:0045603)3.09268301
48sprouting angiogenesis (GO:0002040)3.08891317
49myeloid dendritic cell differentiation (GO:0043011)3.08627131
50regulation of interferon-alpha production (GO:0032647)3.07179231
51defense response to protozoan (GO:0042832)3.06997760
52positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.04865679
53cellular response to interferon-beta (GO:0035458)3.02954206
54viral transcription (GO:0019083)3.01524244
55tooth mineralization (GO:0034505)3.01373649
56B cell mediated immunity (GO:0019724)3.00688303
57NIK/NF-kappaB signaling (GO:0038061)2.99545313
58regulation of antigen processing and presentation (GO:0002577)2.98612869
59negative regulation of blood vessel endothelial cell migration (GO:0043537)2.97218426
60axon extension involved in axon guidance (GO:0048846)2.96932423
61neuron projection extension involved in neuron projection guidance (GO:1902284)2.96932423
62granulocyte activation (GO:0036230)2.95225871
63regulation of B cell differentiation (GO:0045577)2.93045358
64negative regulation of response to food (GO:0032096)2.93043802
65negative regulation of appetite (GO:0032099)2.93043802
66respiratory burst (GO:0045730)2.92663986
67superoxide anion generation (GO:0042554)2.91793273
68vascular endothelial growth factor signaling pathway (GO:0038084)2.90778219
69vitamin biosynthetic process (GO:0009110)2.89712109
70negative regulation of fibrinolysis (GO:0051918)2.88448514
71wound healing, spreading of epidermal cells (GO:0035313)2.88328853
72response to nitrosative stress (GO:0051409)2.87968166
73purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.86243610
743-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.86243610
75mature B cell differentiation (GO:0002335)2.85064431
76translational termination (GO:0006415)2.83497635
77macrophage activation involved in immune response (GO:0002281)2.82759998
78negative regulation of lipid storage (GO:0010888)2.79416124
79regulation of endothelial cell differentiation (GO:0045601)2.78999200
80dendritic cell chemotaxis (GO:0002407)2.78656282
81response to protozoan (GO:0001562)2.78567082
82regulation of dendritic cell antigen processing and presentation (GO:0002604)2.77126961
83ribosomal small subunit biogenesis (GO:0042274)2.76717095
84negative chemotaxis (GO:0050919)2.75637836
85negative regulation of endothelial cell migration (GO:0010596)2.75470637
86regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.75469294
87xenobiotic catabolic process (GO:0042178)2.74970969
88mast cell activation (GO:0045576)2.74757073
89regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.74644632
90myeloid cell activation involved in immune response (GO:0002275)2.73838074
91germinal center formation (GO:0002467)2.73727420
92pinocytosis (GO:0006907)2.73611355
93Notch signaling involved in heart development (GO:0061314)2.72514321
94regulation of mast cell activation (GO:0033003)2.72163558
95branching involved in labyrinthine layer morphogenesis (GO:0060670)2.71913956
96cellular extravasation (GO:0045123)2.71491007
97cellular response to type I interferon (GO:0071357)2.71023869
98type I interferon signaling pathway (GO:0060337)2.71023869
99organ induction (GO:0001759)2.70995315
100response to type I interferon (GO:0034340)2.70552141
101cellular response to exogenous dsRNA (GO:0071360)2.70219217
102organ formation (GO:0048645)2.70035933
103regulation of integrin-mediated signaling pathway (GO:2001044)2.69410262
104positive regulation of natural killer cell differentiation (GO:0032825)2.69233687
105regulation of mast cell degranulation (GO:0043304)2.68961791
106B cell receptor signaling pathway (GO:0050853)2.66929673
107mature B cell differentiation involved in immune response (GO:0002313)2.66662637
108T-helper 1 type immune response (GO:0042088)2.66358425
109negative regulation of axon guidance (GO:1902668)2.65886645
110dendritic cell differentiation (GO:0097028)2.65785452
111regulation of necroptotic process (GO:0060544)2.64728282
112response to host immune response (GO:0052572)2.64569838
113response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.64569838
114negative regulation of protein autophosphorylation (GO:0031953)2.64470714
115endothelial cell proliferation (GO:0001935)2.63078791
116interferon-gamma-mediated signaling pathway (GO:0060333)2.62321026
117negative regulation of mast cell activation (GO:0033004)2.60638841
118cellular response to zinc ion (GO:0071294)2.60629236
119positive regulation of urine volume (GO:0035810)2.60320639
120negative regulation of B cell proliferation (GO:0030889)2.59875103
121negative regulation of phagocytosis (GO:0050765)2.59662931
122response to interferon-alpha (GO:0035455)2.59628925
123megakaryocyte development (GO:0035855)2.58917745
124platelet dense granule organization (GO:0060155)2.58647420
125myeloid leukocyte activation (GO:0002274)2.58555705
126cell migration involved in sprouting angiogenesis (GO:0002042)2.57351097
127dendritic cell migration (GO:0036336)2.57194383
128microglial cell activation (GO:0001774)2.56786295
129epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.55645786
130positive regulation of interferon-beta production (GO:0032728)2.53709779
131regulation of mononuclear cell migration (GO:0071675)2.53697159
132negative regulation of transcription regulatory region DNA binding (GO:2000678)2.53592924
133production of molecular mediator involved in inflammatory response (GO:0002532)2.53487614
134positive regulation of interleukin-12 production (GO:0032735)2.51463084
135SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.51367501
136cellular response to BMP stimulus (GO:0071773)2.51199454
137response to BMP (GO:0071772)2.51199454
138negative regulation of nitric oxide biosynthetic process (GO:0045019)2.51125213
139brown fat cell differentiation (GO:0050873)2.50896767
140regulation of mast cell activation involved in immune response (GO:0033006)2.50368294
141negative regulation of complement activation (GO:0045916)2.49753019
142negative regulation of granulocyte differentiation (GO:0030853)2.48990470
143antigen processing and presentation via MHC class Ib (GO:0002475)2.48071375
144Arp2/3 complex-mediated actin nucleation (GO:0034314)2.48036182
145I-kappaB kinase/NF-kappaB signaling (GO:0007249)2.47966122
146lipopolysaccharide-mediated signaling pathway (GO:0031663)2.47542316
147signal peptide processing (GO:0006465)2.46261041
148cell proliferation in forebrain (GO:0021846)2.46015228
149regulation of interleukin-12 biosynthetic process (GO:0045075)2.45481096
150cotranslational protein targeting to membrane (GO:0006613)2.44912038
151positive regulation of defense response to virus by host (GO:0002230)2.44663800
152histamine secretion (GO:0001821)2.44331100
153regulation of RIG-I signaling pathway (GO:0039535)2.43922242
154protein targeting to ER (GO:0045047)2.43104312
155negative regulation of endothelial cell apoptotic process (GO:2000352)2.42580540
156regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.41962694
157alpha-linolenic acid metabolic process (GO:0036109)2.41703488
158regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.41487453
159cellular response to thyroid hormone stimulus (GO:0097067)2.40813689
160basement membrane organization (GO:0071711)2.40705741
161G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.40339013
162* angiogenesis involved in wound healing (GO:0060055)2.39662317
163positive regulation of fatty acid oxidation (GO:0046321)2.39655000
164T cell homeostasis (GO:0043029)2.37534028
165positive regulation of macrophage differentiation (GO:0045651)2.37493728
166positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-2.37237960
167regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.37197641
168negative regulation of leukocyte chemotaxis (GO:0002689)2.37161849
169regulation of cell proliferation involved in kidney development (GO:1901722)2.36509763
170positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.35874620
171negative regulation of nitric-oxide synthase activity (GO:0051001)2.34987826
172positive regulation of glomerulus development (GO:0090193)2.34985266
173positive regulation of interleukin-8 secretion (GO:2000484)2.33835895
174negative regulation of coagulation (GO:0050819)2.33021075
175estrogen metabolic process (GO:0008210)2.32040345
176lymph vessel development (GO:0001945)2.31894604
177negative regulation of protein activation cascade (GO:2000258)2.31652240
178negative regulation of Rho protein signal transduction (GO:0035024)2.30892447
179L-ascorbic acid metabolic process (GO:0019852)2.30875645
180positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.29259018
181regulation of urine volume (GO:0035809)2.28913501
182endoderm formation (GO:0001706)2.28875067
183fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.28280926
184regulation of smooth muscle cell migration (GO:0014910)2.26523711
185positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.26203174
186presynaptic membrane assembly (GO:0097105)2.25893199
187GPI anchor metabolic process (GO:0006505)2.25194392
188negative regulation of cardiac muscle tissue development (GO:0055026)2.24597538
189artery development (GO:0060840)2.24182265
190cobalamin metabolic process (GO:0009235)2.24086603
191lysine catabolic process (GO:0006554)2.22885766
192lysine metabolic process (GO:0006553)2.22885766
193opsonization (GO:0008228)2.22697204
194positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.22153383
195protein kinase C signaling (GO:0070528)2.19582236
196bile acid biosynthetic process (GO:0006699)2.19337313

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.39128226
2E2F7_22180533_ChIP-Seq_HELA_Human5.09691270
3* IRF8_21731497_ChIP-ChIP_J774_Mouse4.95420880
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.59691971
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.09980181
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.67480364
7MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.43838343
8SCL_19346495_ChIP-Seq_HPC-7_Human3.38348628
9SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.32481775
10IRF8_27001747_Chip-Seq_BMDM_Mouse3.18959805
11SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.99233741
12SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.71889780
13IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.71564034
14ELF1_17652178_ChIP-ChIP_JURKAT_Human2.68903122
15STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.59519873
16TRIM28_21343339_ChIP-Seq_HEK293_Human2.56200525
17NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.53242682
18SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.51773349
19* SPI1_23547873_ChIP-Seq_NB4_Human2.50031256
20MYB_21317192_ChIP-Seq_ERMYB_Mouse2.46726495
21STAT4_19710469_ChIP-ChIP_TH1__Mouse2.40495912
22STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.29887730
23FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.26097601
24STAT6_21828071_ChIP-Seq_BEAS2B_Human2.19311108
25RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.18842463
26NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.10095756
27* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.09608355
28CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.09369973
29GBX2_23144817_ChIP-Seq_PC3_Human2.08404087
30CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.07615738
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.06438601
32EED_16625203_ChIP-ChIP_MESCs_Mouse2.01022641
33NOTCH1_21737748_ChIP-Seq_TLL_Human2.00525175
34MYB_26560356_Chip-Seq_TH2_Human1.93018022
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.90473089
36EGR1_19374776_ChIP-ChIP_THP-1_Human1.89859975
37LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.85800494
38TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.85520244
39ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.84326453
40Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.81326219
41E2F4_17652178_ChIP-ChIP_JURKAT_Human1.79268300
42* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.76303130
43P300_19829295_ChIP-Seq_ESCs_Human1.75458439
44VDR_24763502_ChIP-Seq_THP-1_Human1.73067045
45SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.72748818
46GATA1_22025678_ChIP-Seq_K562_Human1.72406578
47RUNX1_22412390_ChIP-Seq_EML_Mouse1.72138015
48NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.69339527
49* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.68177480
50SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.66490023
51* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.66407204
52LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.66046712
53VDR_21846776_ChIP-Seq_THP-1_Human1.65558966
54ERG_20887958_ChIP-Seq_HPC-7_Mouse1.63420326
55MAF_26560356_Chip-Seq_TH1_Human1.62402018
56MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.62388999
57TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.61427983
58AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.60724754
59* RUNX_20019798_ChIP-Seq_JUKART_Human1.59762473
60MYB_26560356_Chip-Seq_TH1_Human1.59377995
61SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.55720859
62TAF15_26573619_Chip-Seq_HEK293_Human1.55478436
63CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.53931095
64EZH2_22144423_ChIP-Seq_EOC_Human1.53270629
65CJUN_26792858_Chip-Seq_BT549_Human1.51368361
66FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.49496052
67ELK1_19687146_ChIP-ChIP_HELA_Human1.44448152
68EP300_21415370_ChIP-Seq_HL-1_Mouse1.43760589
69AUTS2_25519132_ChIP-Seq_293T-REX_Human1.43054683
70SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39369227
71PU_27001747_Chip-Seq_BMDM_Mouse1.39265004
72MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.38161906
73SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.37474594
74FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.37170559
75STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.36942021
76GATA2_21666600_ChIP-Seq_HMVEC_Human1.35863237
77NRF2_20460467_ChIP-Seq_MEFs_Mouse1.34876977
78NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.34876977
79* SPI1_23127762_ChIP-Seq_K562_Human1.34496147
80ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.33699528
81VDR_23849224_ChIP-Seq_CD4+_Human1.33519280
82SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.33286030
83* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.33257274
84MYC_18555785_ChIP-Seq_MESCs_Mouse1.33147657
85GABP_17652178_ChIP-ChIP_JURKAT_Human1.33024313
86SALL4_18804426_ChIP-ChIP_XEN_Mouse1.32696335
87FUS_26573619_Chip-Seq_HEK293_Human1.31945765
88GATA1_22383799_ChIP-Seq_G1ME_Mouse1.31804205
89BCAT_22108803_ChIP-Seq_LS180_Human1.31001238
90PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30173756
91* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.28704613
92* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.28645425
93OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26297937
94SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.25692627
95EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.24355658
96* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.24277648
97IGF1R_20145208_ChIP-Seq_DFB_Human1.24277221
98PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.24234625
99POU3F2_20337985_ChIP-ChIP_501MEL_Human1.24067803
100UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.24067203
101EST1_17652178_ChIP-ChIP_JURKAT_Human1.23864363
102* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23583116
103SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.23355267
104SMAD3_21741376_ChIP-Seq_EPCs_Human1.20136886
105TP53_18474530_ChIP-ChIP_U2OS_Human1.19457312
106PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.19233432
107HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.19066182
108NANOG_19829295_ChIP-Seq_ESCs_Human1.19026417
109SOX2_19829295_ChIP-Seq_ESCs_Human1.19026417
110SMAD_19615063_ChIP-ChIP_OVARY_Human1.17381639
111RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17181359
112SMAD4_21741376_ChIP-Seq_EPCs_Human1.16987818
113ZNF274_21170338_ChIP-Seq_K562_Hela1.16987386
114PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.16220986
115NR3C1_21868756_ChIP-Seq_MCF10A_Human1.15653930
116SMAD4_21799915_ChIP-Seq_A2780_Human1.14688325
117* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.13741004
118KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.13439935
119VDR_24787735_ChIP-Seq_THP-1_Human1.13138429
120KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.13114190
121TP53_16413492_ChIP-PET_HCT116_Human1.12555688
122SRF_21415370_ChIP-Seq_HL-1_Mouse1.12269661
123EWS_26573619_Chip-Seq_HEK293_Human1.11868399
124GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11799584
125FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.11197056
126TCF4_22108803_ChIP-Seq_LS180_Human1.11018014
127KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.09434741
128KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.09434741
129KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.09434741
130CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.08788788
131CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.08587894
132BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08014854
133LXR_22158963_ChIP-Seq_LIVER_Mouse1.07147549
134TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.06672764
135VDR_22108803_ChIP-Seq_LS180_Human1.06438679
136CTBP2_25329375_ChIP-Seq_LNCAP_Human1.06354756
137PIAS1_25552417_ChIP-Seq_VCAP_Human1.05474399
138EGR1_23403033_ChIP-Seq_LIVER_Mouse1.04946552
139FOXM1_23109430_ChIP-Seq_U2OS_Human1.04091847
140P53_22127205_ChIP-Seq_FIBROBLAST_Human1.02269277
141* UTX_26944678_Chip-Seq_JUKART_Human1.00383933
142JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.99961301
143NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.99058317
144GATA3_26560356_Chip-Seq_TH2_Human0.98958480
145* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.98343793
146TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.97915982
147SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.97537564
148* FOXP3_21729870_ChIP-Seq_TREG_Human0.96582948
149EZH2_27294783_Chip-Seq_NPCs_Mouse0.96249974
150TOP2B_26459242_ChIP-Seq_MCF-7_Human0.95889461
151PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.95869525
152RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95825704
153MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.94604119
154NR3C1_23031785_ChIP-Seq_PC12_Mouse0.94407610
155CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.93897432
156MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.92997175
157CDX2_22108803_ChIP-Seq_LS180_Human0.92669925
158MYC_18358816_ChIP-ChIP_MESCs_Mouse0.91940185
159MAF_26560356_Chip-Seq_TH2_Human0.91576711
160AR_20517297_ChIP-Seq_VCAP_Human0.91430404
161FOXH1_21741376_ChIP-Seq_EPCs_Human0.91294464
162* KDM2B_26808549_Chip-Seq_REH_Human0.91112585
163MYC_22102868_ChIP-Seq_BL_Human0.91040709
164FLI1_21867929_ChIP-Seq_TH2_Mouse0.90529373
165PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.90404337
166EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90402917
167FOXA1_21572438_ChIP-Seq_LNCaP_Human0.90285170
168SMAD4_21741376_ChIP-Seq_HESCs_Human0.89470194
169TAL1_26923725_Chip-Seq_HPCs_Mouse0.89405801
170TBX3_20139965_ChIP-Seq_ESCs_Mouse0.89351334
171JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.88989144
172RNF2_18974828_ChIP-Seq_MESCs_Mouse0.88937591
173EZH2_18974828_ChIP-Seq_MESCs_Mouse0.88937591
174SUZ12_27294783_Chip-Seq_NPCs_Mouse0.88819564
175CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.88416363
176TBX3_20139965_ChIP-Seq_MESCs_Mouse0.88277102
177* MYC_19030024_ChIP-ChIP_MESCs_Mouse0.87863236
178* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.87301495
179HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.86277577
180E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.85145434
181E2F1_21310950_ChIP-Seq_MCF-7_Human0.84916119
182* GATA1_19941827_ChIP-Seq_MEL_Mouse0.84338541
183GATA3_27048872_Chip-Seq_THYMUS_Human0.84309230
184* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.83372436
185VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.81167773
186MYC_19079543_ChIP-ChIP_MESCs_Mouse0.80886465
187TFEB_21752829_ChIP-Seq_HELA_Human0.80549406

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.58760041
2MP0004272_abnormal_basement_membrane3.32646098
3MP0002148_abnormal_hypersensitivity_rea2.93246051
4MP0003724_increased_susceptibility_to2.89357253
5MP0003011_delayed_dark_adaptation2.81111530
6MP0009785_altered_susceptibility_to2.79578901
7MP0005671_abnormal_response_to2.76757406
8MP0005000_abnormal_immune_tolerance2.63604669
9MP0002396_abnormal_hematopoietic_system2.61976987
10MP0003436_decreased_susceptibility_to2.58899729
11MP0002452_abnormal_antigen_presenting2.57529366
12MP0002419_abnormal_innate_immunity2.55197242
13MP0000685_abnormal_immune_system2.54501584
14MP0001800_abnormal_humoral_immune2.53924391
15MP0005025_abnormal_response_to2.52138477
16MP0001790_abnormal_immune_system2.41126901
17MP0005387_immune_system_phenotype2.41126901
18MP0002723_abnormal_immune_serum2.31968141
19MP0003195_calcinosis2.30076029
20MP0001819_abnormal_immune_cell2.26832832
21MP0002420_abnormal_adaptive_immunity2.25897477
22MP0009053_abnormal_anal_canal2.03858644
23MP0005174_abnormal_tail_pigmentation2.00741363
24MP0003646_muscle_fatigue1.98796767
25MP0005464_abnormal_platelet_physiology1.96953225
26MP0002398_abnormal_bone_marrow1.95619181
27MP0001853_heart_inflammation1.95453762
28MP0005397_hematopoietic_system_phenotyp1.93605499
29MP0001545_abnormal_hematopoietic_system1.93605499
30MP0006054_spinal_hemorrhage1.93404508
31MP0006082_CNS_inflammation1.86026648
32MP0004808_abnormal_hematopoietic_stem1.84560540
33MP0009333_abnormal_splenocyte_physiolog1.84346815
34MP0000716_abnormal_immune_system1.83163323
35MP0002295_abnormal_pulmonary_circulatio1.80006790
36MP0001879_abnormal_lymphatic_vessel1.79399613
37MP0003303_peritoneal_inflammation1.75356569
38MP0002166_altered_tumor_susceptibility1.74811635
39MP0000465_gastrointestinal_hemorrhage1.74395910
40MP0002405_respiratory_system_inflammati1.74354224
41MP0004147_increased_porphyrin_level1.69786766
42MP0009384_cardiac_valve_regurgitation1.68611364
43MP0000689_abnormal_spleen_morphology1.67563939
44MP0005595_abnormal_vascular_smooth1.65506945
45MP0010155_abnormal_intestine_physiology1.64968383
46MP0000490_abnormal_crypts_of1.63563991
47MP0002429_abnormal_blood_cell1.62125781
48MP0002653_abnormal_ependyma_morphology1.61677888
49MP0002006_tumorigenesis1.59439142
50MP0002722_abnormal_immune_system1.56813543
51MP0000049_abnormal_middle_ear1.53311808
52MP0003828_pulmonary_edema1.51721365
53MP0001845_abnormal_inflammatory_respons1.47574824
54MP0008057_abnormal_DNA_replication1.47389273
55MP0005058_abnormal_lysosome_morphology1.44776882
56MP0009278_abnormal_bone_marrow1.42302768
57MP0000015_abnormal_ear_pigmentation1.41277206
58MP0001533_abnormal_skeleton_physiology1.40443138
59MP0001485_abnormal_pinna_reflex1.40373224
60MP0000604_amyloidosis1.39706115
61MP0003763_abnormal_thymus_physiology1.38781677
62MP0002132_abnormal_respiratory_system1.36859412
63MP0002282_abnormal_trachea_morphology1.33914316
64MP0010368_abnormal_lymphatic_system1.33713522
65MP0008438_abnormal_cutaneous_collagen1.32725827
66MP0009379_abnormal_foot_pigmentation1.30460998
67MP0001986_abnormal_taste_sensitivity1.30139264
68MP0003448_altered_tumor_morphology1.29310219
69MP0000343_altered_response_to1.28504551
70MP0001873_stomach_inflammation1.27642354
71MP0004510_myositis1.27472444
72MP0005310_abnormal_salivary_gland1.26965506
73MP0003633_abnormal_nervous_system1.26143680
74MP0009764_decreased_sensitivity_to1.26012638
75MP0002837_dystrophic_cardiac_calcinosis1.25336926
76MP0000516_abnormal_urinary_system1.22185322
77MP0005367_renal/urinary_system_phenotyp1.22185322
78MP0002138_abnormal_hepatobiliary_system1.20244999
79MP0003191_abnormal_cellular_cholesterol1.18020547
80MP0005075_abnormal_melanosome_morpholog1.16554320
81MP0008469_abnormal_protein_level1.16146806
82MP0002095_abnormal_skin_pigmentation1.15657191
83MP0008775_abnormal_heart_ventricle1.15337292
84MP0005165_increased_susceptibility_to1.14698182
85MP0008007_abnormal_cellular_replicative1.13099507
86MP0003075_altered_response_to1.12384753
87MP0000858_altered_metastatic_potential1.12114277
88MP0004947_skin_inflammation1.07565951
89MP0005360_urolithiasis1.06439190
90MP0005503_abnormal_tendon_morphology1.06250138
91MP0000703_abnormal_thymus_morphology1.04498119
92MP0002998_abnormal_bone_remodeling1.03404975
93MP0005409_darkened_coat_color1.02783591
94MP0005670_abnormal_white_adipose1.01930034
95MP0003172_abnormal_lysosome_physiology1.01479192
96MP0002277_abnormal_respiratory_mucosa1.00961622
97MP0005164_abnormal_response_to1.00823160
98MP0008058_abnormal_DNA_repair1.00402069
99MP0004885_abnormal_endolymph0.99620435
100MP0005365_abnormal_bile_salt0.99611976
101MP0005167_abnormal_blood-brain_barrier0.99502453
102MP0000767_abnormal_smooth_muscle0.98539992
103MP0002933_joint_inflammation0.98482479
104MP0001851_eye_inflammation0.97903113
105MP0003136_yellow_coat_color0.97547335
106MP0002736_abnormal_nociception_after0.97189660
107MP0005085_abnormal_gallbladder_physiolo0.96203960
108MP0010094_abnormal_chromosome_stability0.96069630
109MP0003329_amyloid_beta_deposits0.94958337
110MP0004883_abnormal_blood_vessel0.94768238
111MP0002163_abnormal_gland_morphology0.94065442
112MP0009250_abnormal_appendicular_skeleto0.93843496
113MP0005253_abnormal_eye_physiology0.93263588
114MP0008004_abnormal_stomach_pH0.92657706
115MP0000372_irregular_coat_pigmentation0.91954056
116MP0003693_abnormal_embryo_hatching0.91884635
117MP0003077_abnormal_cell_cycle0.91827434
118MP0000230_abnormal_systemic_arterial0.91575029
119MP0004130_abnormal_muscle_cell0.91506527
120MP0005084_abnormal_gallbladder_morpholo0.88918610
121MP0005390_skeleton_phenotype0.87903035
122MP0005551_abnormal_eye_electrophysiolog0.87570560
123MP0002127_abnormal_cardiovascular_syste0.87543002
124MP0009765_abnormal_xenobiotic_induced0.86940845
125MP0004215_abnormal_myocardial_fiber0.86209685
126MP0010030_abnormal_orbit_morphology0.85673292
127MP0008875_abnormal_xenobiotic_pharmacok0.83242904
128MP0000249_abnormal_blood_vessel0.82790642
129MP0003656_abnormal_erythrocyte_physiolo0.82514749
130MP0002009_preneoplasia0.82374034
131MP0001963_abnormal_hearing_physiology0.82293549
132MP0002139_abnormal_hepatobiliary_system0.81460605
133MP0002019_abnormal_tumor_incidence0.80554603
134MP0001614_abnormal_blood_vessel0.79423879
135MP0010329_abnormal_lipoprotein_level0.79366372
136MP0000026_abnormal_inner_ear0.78963885
137MP0003186_abnormal_redox_activity0.78682945
138MP0000534_abnormal_ureter_morphology0.78406894
139MP0000613_abnormal_salivary_gland0.77380452
140MP0004782_abnormal_surfactant_physiolog0.77277941
141MP0003866_abnormal_defecation0.76023959
142MP0006072_abnormal_retinal_apoptosis0.75588131
143MP0001544_abnormal_cardiovascular_syste0.75579497
144MP0005385_cardiovascular_system_phenoty0.75579497
145MP0003300_gastrointestinal_ulcer0.74154524
146* MP0003638_abnormal_response/metabolism_0.73900753
147MP0002135_abnormal_kidney_morphology0.73532729
148MP0003567_abnormal_fetal_cardiomyocyte0.73212506
149MP0003943_abnormal_hepatobiliary_system0.73051160
150MP0003111_abnormal_nucleus_morphology0.72798793
151MP0003631_nervous_system_phenotype0.71280275
152MP0002133_abnormal_respiratory_system0.70680022
153MP0005388_respiratory_system_phenotype0.70680022
154MP0003279_aneurysm0.69205936
155MP0001188_hyperpigmentation0.68779529
156MP0002254_reproductive_system_inflammat0.68343338
157MP0002876_abnormal_thyroid_physiology0.67497411
158MP0003122_maternal_imprinting0.66607613
159MP0000537_abnormal_urethra_morphology0.66179866
160MP0001915_intracranial_hemorrhage0.63622119
161MP0003632_abnormal_nervous_system0.63430168
162MP0000163_abnormal_cartilage_morphology0.63304219
163MP0004133_heterotaxia0.63271498
164MP0004145_abnormal_muscle_electrophysio0.63063388
165MP0000313_abnormal_cell_death0.62752362
166MP0004381_abnormal_hair_follicle0.62232689
167MP0001849_ear_inflammation0.61876550
168MP0000371_diluted_coat_color0.61862395
169MP0003690_abnormal_glial_cell0.61462995

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)5.43053428
2Recurrent bacterial skin infections (HP:0005406)4.77042304
3Stenosis of the external auditory canal (HP:0000402)4.35455294
4Eczematoid dermatitis (HP:0000976)4.17249171
5Myositis (HP:0100614)4.15827216
6Hemiplegia (HP:0002301)4.06701467
7Elevated erythrocyte sedimentation rate (HP:0003565)4.02167188
8Porencephaly (HP:0002132)3.92625254
9Diplopia (HP:0000651)3.90761339
10Abnormality of binocular vision (HP:0011514)3.90761339
11Methylmalonic aciduria (HP:0012120)3.77141810
12Vacuolated lymphocytes (HP:0001922)3.63615287
13Petechiae (HP:0000967)3.55748537
14Reticulocytopenia (HP:0001896)3.54336483
15Orchitis (HP:0100796)3.47686200
16Optic neuritis (HP:0100653)3.43922379
17Retrobulbar optic neuritis (HP:0100654)3.43922379
18Abolished electroretinogram (ERG) (HP:0000550)3.40827503
19IgM deficiency (HP:0002850)3.40759580
20Abnormality of macrophages (HP:0004311)3.38040551
21Abnormal number of erythroid precursors (HP:0012131)3.35430221
22Abnormality of cells of the erythroid lineage (HP:0012130)3.35236900
23Recurrent skin infections (HP:0001581)3.32834880
24Chronic otitis media (HP:0000389)3.28896983
25Cellulitis (HP:0100658)3.26648777
26Thrombocytosis (HP:0001894)3.23380401
27Abnormality of the proximal phalanges of the hand (HP:0009834)3.16472215
28Increased corneal curvature (HP:0100692)3.13534938
29Keratoconus (HP:0000563)3.13534938
30Mediastinal lymphadenopathy (HP:0100721)3.11492702
31Increased neuronal autofluorescent lipopigment (HP:0002074)3.10325528
32Recurrent viral infections (HP:0004429)3.06353639
33Recurrent fungal infections (HP:0002841)3.06128806
34Methylmalonic acidemia (HP:0002912)3.04166019
35Short tibia (HP:0005736)3.00764251
36Prolonged bleeding time (HP:0003010)2.99245218
37Hemiparesis (HP:0001269)2.98603160
38Chronic obstructive pulmonary disease (HP:0006510)2.95375974
39Obstructive lung disease (HP:0006536)2.95375974
40Spontaneous hematomas (HP:0007420)2.93784109
41Confusion (HP:0001289)2.91072547
42Meningitis (HP:0001287)2.90279997
43Agammaglobulinemia (HP:0004432)2.84507977
44Increased cerebral lipofuscin (HP:0011813)2.82846354
45Abnormality of the phalanges of the 2nd finger (HP:0009541)2.82718823
46Aplasia/Hypoplasia of the tibia (HP:0005772)2.82163041
47Recurrent gram-negative bacterial infections (HP:0005420)2.76856268
48True hermaphroditism (HP:0010459)2.76512250
49Abnormality of the nasal septum (HP:0000419)2.75797687
50Recurrent pneumonia (HP:0006532)2.75308379
51Chronic mucocutaneous candidiasis (HP:0002728)2.73670747
52Recurrent cutaneous fungal infections (HP:0011370)2.73670747
53Vasculitis (HP:0002633)2.71823055
54Adactyly (HP:0009776)2.68935247
55Prostate neoplasm (HP:0100787)2.67100933
56Congenital, generalized hypertrichosis (HP:0004540)2.64935857
57Agitation (HP:0000713)2.64669435
58Inflammation of the large intestine (HP:0002037)2.63539267
59Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.55793745
60Chromsome breakage (HP:0040012)2.54823744
61Colitis (HP:0002583)2.52872909
62Short femoral neck (HP:0100864)2.52314406
63Recurrent lower respiratory tract infections (HP:0002783)2.51320953
64Gingivitis (HP:0000230)2.48924886
65Cervical subluxation (HP:0003308)2.48893622
66Chromosomal breakage induced by crosslinking agents (HP:0003221)2.47702794
67Short hallux (HP:0010109)2.47545234
68Basal ganglia calcification (HP:0002135)2.47212989
69Abnormal delayed hypersensitivity skin test (HP:0002963)2.46628138
70Dysostosis multiplex (HP:0000943)2.45596108
71Beaking of vertebral bodies (HP:0004568)2.45578182
72Aplasia/Hypoplasia of the hallux (HP:0008362)2.43886855
73Pallor (HP:0000980)2.43653603
74Gastrointestinal inflammation (HP:0004386)2.43391279
75Osteomyelitis (HP:0002754)2.39485512
76Duplicated collecting system (HP:0000081)2.36398355
77Abnormality of the vasculature of the conjunctiva (HP:0008054)2.36201384
78Abnormality of the middle phalanges of the toes (HP:0010183)2.34963503
79Epistaxis (HP:0000421)2.32494786
80Ovoid vertebral bodies (HP:0003300)2.32483537
81Fused cervical vertebrae (HP:0002949)2.31858947
82Mucopolysacchariduria (HP:0008155)2.31775455
83Urinary glycosaminoglycan excretion (HP:0003541)2.31775455
84Purpura (HP:0000979)2.31030957
85Reduced antithrombin III activity (HP:0001976)2.27952415
86Pancreatic fibrosis (HP:0100732)2.27266119
87Aplasia/Hypoplasia of the spleen (HP:0010451)2.26903795
88Hyperglycinemia (HP:0002154)2.25535906
89Irregular vertebral endplates (HP:0003301)2.24966116
90Keratoconjunctivitis sicca (HP:0001097)2.23944166
91Recurrent bronchitis (HP:0002837)2.23176736
92Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.21035505
93Pancreatic cysts (HP:0001737)2.20972243
94Abnormality of the renal collecting system (HP:0004742)2.20154176
95Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.19684853
96Short 4th metacarpal (HP:0010044)2.19684853
97Encephalitis (HP:0002383)2.18144819
98Abnormality of T cell physiology (HP:0011840)2.17558586
99Abnormality of the prostate (HP:0008775)2.16781055
100Hematochezia (HP:0002573)2.16767033
101Conjunctival telangiectasia (HP:0000524)2.15897644
102Abnormality of polysaccharide metabolism (HP:0011012)2.15827114
103Abnormality of glycosaminoglycan metabolism (HP:0004371)2.15827114
104Abnormality of mucopolysaccharide metabolism (HP:0011020)2.15827114
105Pulmonary infiltrates (HP:0002113)2.15036996
106Agnosia (HP:0010524)2.13572285
1073-Methylglutaconic aciduria (HP:0003535)2.13167481
108Myocardial infarction (HP:0001658)2.13042843
109Decreased central vision (HP:0007663)2.12971483
110Clubbing of toes (HP:0100760)2.12612793
111Periodontitis (HP:0000704)2.12396721
112Systemic lupus erythematosus (HP:0002725)2.11967566
113Bone cyst (HP:0012062)2.11068537
114Hemoptysis (HP:0002105)2.10831130
115Abnormality of the heme biosynthetic pathway (HP:0010472)2.10809170
116Interstitial pulmonary disease (HP:0006530)2.10689467
117Keratoconjunctivitis (HP:0001096)2.10607128
118Abnormality of the nasal mucosa (HP:0000433)2.10475648
119Autoimmune thrombocytopenia (HP:0001973)2.06657762
120Arterial thrombosis (HP:0004420)2.06164091
121Patchy hypopigmentation of hair (HP:0011365)2.05631389
122Pustule (HP:0200039)2.04709007
123Leukopenia (HP:0001882)2.04516092
124Type I transferrin isoform profile (HP:0003642)2.03636032
125Sensorimotor neuropathy (HP:0007141)2.03051885
126Hypoplasia of the ulna (HP:0003022)2.01494730
127Increased IgE level (HP:0003212)2.01300396
128Abnormality of liposaccharide metabolism (HP:0010968)2.00787860
129Abnormality of glycosphingolipid metabolism (HP:0004343)2.00787860
130Abnormality of glycolipid metabolism (HP:0010969)2.00787860
131Humeroradial synostosis (HP:0003041)2.00118060
132Synostosis involving the elbow (HP:0003938)2.00118060
133Fibular hypoplasia (HP:0003038)1.97522225
134Leukocytosis (HP:0001974)1.97296718
135Panhypogammaglobulinemia (HP:0003139)1.97077244
136Gingival bleeding (HP:0000225)1.95562281
137Abnormality of the phalanges of the 5th finger (HP:0004213)1.94710330
138Hypergammaglobulinemia (HP:0010702)1.94688955
139Stomatitis (HP:0010280)1.93996939
140White forelock (HP:0002211)1.92897786
141Aplasia/Hypoplasia of the fibula (HP:0006492)1.92892994
142Asplenia (HP:0001746)1.92619507
143Albinism (HP:0001022)1.92321830
144Acute myeloid leukemia (HP:0004808)1.92162985
145Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.91953307
146Synostosis of carpal bones (HP:0005048)1.91692169
147Aplasia/hypoplasia of the femur (HP:0005613)1.91471632
148Joint stiffness (HP:0001387)1.91023014
149Congenital sensorineural hearing impairment (HP:0008527)1.90903076
150Meningioma (HP:0002858)1.90900520
151Abnormal platelet function (HP:0011869)1.90741403
152Impaired platelet aggregation (HP:0003540)1.90741403
153Birth length less than 3rd percentile (HP:0003561)1.90392137
154Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.89708819
155Mucosal telangiectasiae (HP:0100579)1.89026522
156Poor head control (HP:0002421)1.88513066
157Gastrointestinal stroma tumor (HP:0100723)1.88385616
158Action tremor (HP:0002345)1.87940150
159Decreased electroretinogram (ERG) amplitude (HP:0000654)1.87873903
160Lymphopenia (HP:0001888)1.87569991
161Short humerus (HP:0005792)1.87136168
162Glomerulonephritis (HP:0000099)1.86335414
163Skin ulcer (HP:0200042)1.85909180
164Short 1st metacarpal (HP:0010034)1.85767293
165Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.85767293
166Aplastic anemia (HP:0001915)1.84832794
167Hypoplasia of the odontoid process (HP:0003311)1.84687524
168Myelodysplasia (HP:0002863)1.84414179
169Pendular nystagmus (HP:0012043)1.84050464
170Anhidrosis (HP:0000970)1.83931476
171Neutropenia (HP:0001875)1.83517678
172Bile duct proliferation (HP:0001408)1.83348612
173Abnormal biliary tract physiology (HP:0012439)1.83348612
174Chronic sinusitis (HP:0011109)1.82846152
175Amaurosis fugax (HP:0100576)1.82561086
176Flared iliac wings (HP:0002869)1.81911952
177Abnormality of aspartate family amino acid metabolism (HP:0010899)1.80333137
178Abnormality of the vertebral endplates (HP:0005106)1.79942267
179Lymphangioma (HP:0100764)1.79576552
180Hypoplasia of the uterus (HP:0000013)1.78246822
181Mesangial abnormality (HP:0001966)1.77113179
182Cerebral hemorrhage (HP:0001342)1.76834704
183Disproportionate short-trunk short stature (HP:0003521)1.76438699
184Complement deficiency (HP:0004431)1.74318818
185Aplasia/hypoplasia of the humerus (HP:0006507)1.72583155
186Progressive neurologic deterioration (HP:0002344)1.71780947
187Premature rupture of membranes (HP:0001788)1.70662029
188Polycythemia (HP:0001901)1.70565608
189Hypoalphalipoproteinemia (HP:0003233)1.70345107

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK3.24320876
2MAP3K143.19033331
3MAP3K123.06190651
4IRAK42.93166751
5MAP4K12.90642653
6PDK22.87645738
7NME22.78043946
8IRAK32.71543854
9EPHB22.64946654
10TIE12.57420365
11KIT2.57154991
12TGFBR22.41731109
13IKBKB2.33505557
14KDR2.28647713
15TBK12.09089566
16BCKDK2.06545656
17JAK32.03329043
18TYK22.02290901
19TEC2.02089334
20PIM21.98820933
21BTK1.84055670
22IKBKE1.80646135
23FRK1.78999000
24STK161.76495947
25VRK11.73505884
26CSF1R1.71429173
27FER1.67496937
28CLK11.67090678
29MYLK1.62832377
30TXK1.53564020
31TGFBR11.42019654
32PIM11.41323387
33MAP2K31.35936187
34PTK2B1.35819107
35EIF2AK21.35787435
36MATK1.31823595
37LYN1.27093403
38PINK11.26545597
39SYK1.24599903
40ZAP701.22138265
41ZAK1.17902480
42STK101.17488817
43FLT31.15616264
44LIMK11.15385703
45CHUK1.14713281
46PRKD21.11884626
47RIPK41.08761530
48YES11.08235195
49MOS1.06278552
50NUAK11.04891373
51CSNK1G11.03004032
52ERBB41.01816376
53LCK1.00768403
54MST41.00090586
55NLK0.99846057
56PBK0.98559937
57TRPM70.97402516
58JAK10.96002710
59MAP4K20.94621198
60MKNK10.94163543
61STK40.94034320
62HCK0.93786501
63BMPR1B0.93094152
64BMPR20.92493791
65CSNK1G30.91919456
66TLK10.91916702
67EPHB10.91329450
68ADRBK20.91072370
69VRK20.89686947
70NEK90.89618083
71CSK0.88727615
72RPS6KA40.88332101
73GRK10.86807448
74CSNK1A1L0.86490796
75IRAK10.85783234
76PAK40.82387549
77DYRK30.79627941
78EIF2AK10.76790352
79FGR0.76773789
80TAOK30.76567968
81SIK30.76433167
82ROCK20.76232725
83GRK70.75039764
84EIF2AK30.72741096
85ADRBK10.71655162
86TNIK0.71308256
87LRRK20.71161707
88CSNK1G20.70885647
89PLK20.70513154
90FGFR20.69342433
91FES0.68840227
92IGF1R0.68207650
93CDK70.67098353
94MKNK20.66476339
95MAPK70.64488338
96PRKCE0.64204939
97TESK10.63697193
98ITK0.61855337
99IRAK20.61562791
100WEE10.59240590
101GRK50.58666337
102PLK40.58338831
103EPHA30.57728747
104DDR20.57033376
105FGFR30.54933824
106ACVR1B0.54613715
107RPS6KA50.54406181
108INSRR0.53926384
109PRKCD0.50407622
110GRK60.49714747
111ATR0.49683731
112ROCK10.49600380
113ERN10.49400225
114JAK20.48576929
115CDK190.47504475
116ERBB20.47141690
117MAPKAPK20.46988244
118ABL10.46631404
119CDK90.41061129
120MAPKAPK50.40899612
121STK38L0.40216155
122CDK80.39964055
123RPS6KA60.39711692
124EGFR0.39387760
125CSNK1A10.39335391
126WNK30.38492856
127ABL20.37601164
128CDK40.37550575
129INSR0.37041053
130PIK3CG0.36955555
131PRKG20.36661851
132TNK20.36417244
133MAPK120.35786914
134MAP3K30.35281642
135BRSK20.34248402
136PRKCG0.33868812
137GSK3A0.33566488
138SRC0.33415543
139FYN0.29706951
140PRKD10.28908650
141FGFR10.28794314
142MUSK0.28148119
143RPS6KB20.27908828
144RPS6KC10.27795335
145RPS6KL10.27795335
146PRKCQ0.27490932
147OXSR10.26469905
148PRKCA0.24699422
149RIPK10.22826685
150PAK60.21711627
151MET0.21599165

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001202.97025431
2Ribosome_Homo sapiens_hsa030102.71897684
3Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.55210313
4Complement and coagulation cascades_Homo sapiens_hsa046102.51747563
5Sulfur metabolism_Homo sapiens_hsa009202.48927908
6Leishmaniasis_Homo sapiens_hsa051402.47679240
7DNA replication_Homo sapiens_hsa030302.39225682
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.36257406
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.09746252
10Measles_Homo sapiens_hsa051621.96351452
11Fatty acid elongation_Homo sapiens_hsa000621.95243453
12Malaria_Homo sapiens_hsa051441.92371166
13Hematopoietic cell lineage_Homo sapiens_hsa046401.90305861
14Other glycan degradation_Homo sapiens_hsa005111.89705437
15Mismatch repair_Homo sapiens_hsa034301.84859220
16RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.83506055
17Toll-like receptor signaling pathway_Homo sapiens_hsa046201.83281417
18Primary immunodeficiency_Homo sapiens_hsa053401.79764647
19Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.75561082
20Allograft rejection_Homo sapiens_hsa053301.75346986
21Herpes simplex infection_Homo sapiens_hsa051681.74790452
22Osteoclast differentiation_Homo sapiens_hsa043801.73242954
23Legionellosis_Homo sapiens_hsa051341.70876654
24NOD-like receptor signaling pathway_Homo sapiens_hsa046211.68425720
25Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.68282941
26Homologous recombination_Homo sapiens_hsa034401.66523643
27Graft-versus-host disease_Homo sapiens_hsa053321.65393341
28B cell receptor signaling pathway_Homo sapiens_hsa046621.64769376
29Antigen processing and presentation_Homo sapiens_hsa046121.64508453
30Glycosaminoglycan degradation_Homo sapiens_hsa005311.63481539
31Pertussis_Homo sapiens_hsa051331.62266565
32Nitrogen metabolism_Homo sapiens_hsa009101.60736979
33Base excision repair_Homo sapiens_hsa034101.56998170
34Chemical carcinogenesis_Homo sapiens_hsa052041.54210451
35Tryptophan metabolism_Homo sapiens_hsa003801.53268119
36PPAR signaling pathway_Homo sapiens_hsa033201.52517895
37Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.47380324
38Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.41754658
39Staphylococcus aureus infection_Homo sapiens_hsa051501.40107853
40Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.40037664
41Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.39358017
42Jak-STAT signaling pathway_Homo sapiens_hsa046301.39187475
43Fanconi anemia pathway_Homo sapiens_hsa034601.38640839
44Tuberculosis_Homo sapiens_hsa051521.37850623
45Peroxisome_Homo sapiens_hsa041461.37037983
46beta-Alanine metabolism_Homo sapiens_hsa004101.36579537
47Toxoplasmosis_Homo sapiens_hsa051451.34819799
48Glycerolipid metabolism_Homo sapiens_hsa005611.34792920
49Glutathione metabolism_Homo sapiens_hsa004801.34400411
50Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.31867063
51Apoptosis_Homo sapiens_hsa042101.29733663
52Fatty acid degradation_Homo sapiens_hsa000711.29016074
53Shigellosis_Homo sapiens_hsa051311.28112598
54Influenza A_Homo sapiens_hsa051641.27659517
55TNF signaling pathway_Homo sapiens_hsa046681.27283227
56Oxidative phosphorylation_Homo sapiens_hsa001901.23902613
57Nucleotide excision repair_Homo sapiens_hsa034201.20123965
58Propanoate metabolism_Homo sapiens_hsa006401.18467303
59Transcriptional misregulation in cancer_Homo sapiens_hsa052021.16987666
60Lysosome_Homo sapiens_hsa041421.16841271
61RNA polymerase_Homo sapiens_hsa030201.16840296
62Asthma_Homo sapiens_hsa053101.15874733
63Rheumatoid arthritis_Homo sapiens_hsa053231.14899990
64Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.12668354
65Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.12041562
66Proteasome_Homo sapiens_hsa030501.10461698
67Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.08400387
68Pyrimidine metabolism_Homo sapiens_hsa002401.06955843
69p53 signaling pathway_Homo sapiens_hsa041151.06096628
70Collecting duct acid secretion_Homo sapiens_hsa049661.05775302
71Retinol metabolism_Homo sapiens_hsa008301.03159431
72SNARE interactions in vesicular transport_Homo sapiens_hsa041301.02667156
73Spliceosome_Homo sapiens_hsa030401.01896200
74Salmonella infection_Homo sapiens_hsa051321.01862654
75Autoimmune thyroid disease_Homo sapiens_hsa053201.01767853
76ECM-receptor interaction_Homo sapiens_hsa045121.01705835
77Fatty acid metabolism_Homo sapiens_hsa012121.01466117
78Non-homologous end-joining_Homo sapiens_hsa034501.01366821
79Leukocyte transendothelial migration_Homo sapiens_hsa046701.01362829
80Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.01229396
81Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.99339309
82Epstein-Barr virus infection_Homo sapiens_hsa051690.98541070
83African trypanosomiasis_Homo sapiens_hsa051430.97312571
84Hepatitis B_Homo sapiens_hsa051610.96047255
85Chemokine signaling pathway_Homo sapiens_hsa040620.94379912
86Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.93451359
87Phagosome_Homo sapiens_hsa041450.92339843
88Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.92086338
89Viral myocarditis_Homo sapiens_hsa054160.92038782
90Protein export_Homo sapiens_hsa030600.90374687
91Basal transcription factors_Homo sapiens_hsa030220.88688204
92Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.88572830
93Caffeine metabolism_Homo sapiens_hsa002320.88020311
94Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.87219956
95Platelet activation_Homo sapiens_hsa046110.86846257
96Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.86156358
97Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.84834811
98Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.84425955
99Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.83475760
100Phototransduction_Homo sapiens_hsa047440.83097433
101Steroid biosynthesis_Homo sapiens_hsa001000.81847190
102AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.81641929
103Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.81349318
104Sphingolipid metabolism_Homo sapiens_hsa006000.80086732
105Histidine metabolism_Homo sapiens_hsa003400.79734502
106Steroid hormone biosynthesis_Homo sapiens_hsa001400.77550986
107Small cell lung cancer_Homo sapiens_hsa052220.76899610
108Alzheimers disease_Homo sapiens_hsa050100.75094384
109Basal cell carcinoma_Homo sapiens_hsa052170.75009241
110Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.73571232
111Galactose metabolism_Homo sapiens_hsa000520.73431516
112RNA degradation_Homo sapiens_hsa030180.73050931
113Arachidonic acid metabolism_Homo sapiens_hsa005900.72905113
114Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.72271979
115Cell cycle_Homo sapiens_hsa041100.71801507
116Viral carcinogenesis_Homo sapiens_hsa052030.70275826
117Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.69873134
118Hepatitis C_Homo sapiens_hsa051600.69232561
119Systemic lupus erythematosus_Homo sapiens_hsa053220.69226808
120Acute myeloid leukemia_Homo sapiens_hsa052210.68239272
121Parkinsons disease_Homo sapiens_hsa050120.65585249
122T cell receptor signaling pathway_Homo sapiens_hsa046600.60772269
123TGF-beta signaling pathway_Homo sapiens_hsa043500.60762841
124Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.60652711
125N-Glycan biosynthesis_Homo sapiens_hsa005100.60280768
126Rap1 signaling pathway_Homo sapiens_hsa040150.58573152
127Fat digestion and absorption_Homo sapiens_hsa049750.57482393
128Notch signaling pathway_Homo sapiens_hsa043300.56760823
129HTLV-I infection_Homo sapiens_hsa051660.54886986
130Linoleic acid metabolism_Homo sapiens_hsa005910.53865686
131Pentose and glucuronate interconversions_Homo sapiens_hsa000400.53759995
132Regulation of autophagy_Homo sapiens_hsa041400.52708189
133Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.52526456
134alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.50741670
135Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.49681745
136Ras signaling pathway_Homo sapiens_hsa040140.48728458
137ABC transporters_Homo sapiens_hsa020100.48522915
138Purine metabolism_Homo sapiens_hsa002300.48341880
139Morphine addiction_Homo sapiens_hsa050320.46171554
140Chronic myeloid leukemia_Homo sapiens_hsa052200.44823337
141Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.43034683
142Pancreatic cancer_Homo sapiens_hsa052120.42573231
143One carbon pool by folate_Homo sapiens_hsa006700.42267548
144Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.41741401
145Mineral absorption_Homo sapiens_hsa049780.41578630
146Vitamin digestion and absorption_Homo sapiens_hsa049770.40591497
147Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40034562
148Pyruvate metabolism_Homo sapiens_hsa006200.39629857
149Type I diabetes mellitus_Homo sapiens_hsa049400.39317009
150Metabolic pathways_Homo sapiens_hsa011000.38175407
151Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.38102973
152Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.38038752
153Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37605633
154* Renin-angiotensin system_Homo sapiens_hsa046140.37155964
155PI3K-Akt signaling pathway_Homo sapiens_hsa041510.36502688
156Bile secretion_Homo sapiens_hsa049760.35652723
157Regulation of actin cytoskeleton_Homo sapiens_hsa048100.32932311
158* Protein digestion and absorption_Homo sapiens_hsa049740.32219936
159Arginine and proline metabolism_Homo sapiens_hsa003300.30466524
160Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.28335723
161Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.27705904
162Axon guidance_Homo sapiens_hsa043600.27669732

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