CALCOCO2

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 coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)6.04003833
2folic acid metabolic process (GO:0046655)5.86424981
3ribosome assembly (GO:0042255)5.79186318
4purine nucleobase biosynthetic process (GO:0009113)5.74996117
5folic acid transport (GO:0015884)5.44978583
6nucleobase biosynthetic process (GO:0046112)5.26736752
7interferon-gamma secretion (GO:0072643)5.25871126
8formation of translation preinitiation complex (GO:0001731)5.09872557
9positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)5.06405805
10negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.99631722
11anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.99529566
12regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.91980871
13regulation of cellular amino acid metabolic process (GO:0006521)4.64607525
14antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.61199342
15positive regulation of ubiquitin-protein transferase activity (GO:0051443)4.50669373
16negative regulation of ligase activity (GO:0051352)4.48098872
17negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.48098872
18rRNA modification (GO:0000154)4.42392691
19amino acid salvage (GO:0043102)4.39412831
20L-methionine salvage (GO:0071267)4.39412831
21L-methionine biosynthetic process (GO:0071265)4.39412831
22mitotic metaphase plate congression (GO:0007080)4.36399144
23ribosome biogenesis (GO:0042254)4.28632739
24positive regulation of ligase activity (GO:0051351)4.21729443
25DNA replication checkpoint (GO:0000076)4.21451308
26establishment of protein localization to mitochondrial membrane (GO:0090151)4.18657778
27signal transduction involved in DNA integrity checkpoint (GO:0072401)4.16483847
28signal transduction involved in DNA damage checkpoint (GO:0072422)4.16483847
29signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)4.11947214
30signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)4.11947214
31signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)4.11947214
32signal transduction involved in cell cycle checkpoint (GO:0072395)4.09510444
33DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:004.07060961
34maturation of SSU-rRNA (GO:0030490)4.04589049
35intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.99954881
36signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.99954881
37DNA deamination (GO:0045006)3.96819109
38transcription elongation from RNA polymerase III promoter (GO:0006385)3.93188727
39termination of RNA polymerase III transcription (GO:0006386)3.93188727
40regulation of ubiquitin-protein transferase activity (GO:0051438)3.89284229
41intestinal epithelial cell development (GO:0060576)3.87919781
42blastocyst development (GO:0001824)3.84050188
43regulation of translation in response to stress (GO:0043555)3.81521533
44cellular ketone body metabolic process (GO:0046950)3.76917366
45lung-associated mesenchyme development (GO:0060484)3.74590662
46methionine biosynthetic process (GO:0009086)3.72467355
47transcription elongation from RNA polymerase I promoter (GO:0006362)3.71878332
48termination of RNA polymerase I transcription (GO:0006363)3.71033341
49antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.69037702
50regulation of mitochondrial translation (GO:0070129)3.67706797
51regulation of spindle organization (GO:0090224)3.67627973
52regulation of ligase activity (GO:0051340)3.67608116
537-methylguanosine mRNA capping (GO:0006370)3.58939742
54antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.57391997
55ribonucleoprotein complex biogenesis (GO:0022613)3.56928182
56macroautophagy (GO:0016236)3.55336620
57regulation of translational termination (GO:0006449)3.54021678
58transcription from RNA polymerase I promoter (GO:0006360)3.52791251
59antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.51827095
60ketone body metabolic process (GO:1902224)3.50182097
61methionine metabolic process (GO:0006555)3.49311930
62positive regulation of cell cycle arrest (GO:0071158)3.48730319
63antigen processing and presentation of endogenous antigen (GO:0019883)3.48173955
64regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.48067244
65ribosomal large subunit biogenesis (GO:0042273)3.45802971
66regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.44817925
677-methylguanosine RNA capping (GO:0009452)3.44812739
68RNA capping (GO:0036260)3.44812739
69G1/S transition of mitotic cell cycle (GO:0000082)3.44199164
70cell cycle G1/S phase transition (GO:0044843)3.44199164
71rRNA processing (GO:0006364)3.39083448
72labyrinthine layer development (GO:0060711)3.38340510
73L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.36765363
74regulation of cellular amine metabolic process (GO:0033238)3.35795422
75regulation of histone H3-K27 methylation (GO:0061085)3.33069062
76amino sugar catabolic process (GO:0046348)3.30618782
77rRNA metabolic process (GO:0016072)3.29647260
78antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.27687105
79sulfur amino acid biosynthetic process (GO:0000097)3.26715947
80CDP-diacylglycerol metabolic process (GO:0046341)3.25978993
81protein targeting to Golgi (GO:0000042)3.25676342
82metaphase plate congression (GO:0051310)3.24717237
83autophagic vacuole assembly (GO:0000045)3.21882714
84pseudouridine synthesis (GO:0001522)3.21646680
85establishment of protein localization to Golgi (GO:0072600)3.19200210
86transcription initiation from RNA polymerase I promoter (GO:0006361)3.17230711
87spliceosomal snRNP assembly (GO:0000387)3.15142650
88fructose metabolic process (GO:0006000)3.15005104
89modified amino acid transport (GO:0072337)3.13588834
90positive regulation of chromosome segregation (GO:0051984)3.13528801
91rRNA methylation (GO:0031167)3.13070235
92cullin deneddylation (GO:0010388)3.12656193
93negative regulation of protein ubiquitination (GO:0031397)3.12158836
94DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.11965714
95DNA damage response, detection of DNA damage (GO:0042769)3.11788230
96NADH metabolic process (GO:0006734)3.11348929
97spindle checkpoint (GO:0031577)3.11067080
98DNA replication initiation (GO:0006270)3.09840018
99retrograde transport, vesicle recycling within Golgi (GO:0000301)3.09329643
100chaperone-mediated protein complex assembly (GO:0051131)3.08270176
101maturation of 5.8S rRNA (GO:0000460)3.06366706
102negative regulation of cell killing (GO:0031342)3.06166184
103negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.06166184
104aspartate family amino acid biosynthetic process (GO:0009067)3.05337395
105negative regulation of translational initiation (GO:0045947)3.02611395
106DNA strand elongation involved in DNA replication (GO:0006271)3.02361781
107mitotic spindle checkpoint (GO:0071174)3.01161932
108regulation of nuclear cell cycle DNA replication (GO:0033262)3.00572062
109positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)3.00099328
110L-serine metabolic process (GO:0006563)2.99982884
111glycine metabolic process (GO:0006544)2.99585322
112mitotic spindle assembly checkpoint (GO:0007094)2.99581822
113positive regulation of gamma-delta T cell activation (GO:0046645)2.94617499
114negative regulation of complement activation (GO:0045916)2.93151674
115regulation of gamma-delta T cell activation (GO:0046643)2.85665901
116regulation of T cell mediated cytotoxicity (GO:0001914)2.83285660
117positive regulation of T cell mediated cytotoxicity (GO:0001916)2.81708892
118regulation of gamma-delta T cell differentiation (GO:0045586)2.81678213
119negative regulation of protein activation cascade (GO:2000258)2.69562448
120response to type I interferon (GO:0034340)2.67945980
121growth hormone receptor signaling pathway (GO:0060396)2.65173942
122type I interferon signaling pathway (GO:0060337)2.64648250
123cellular response to type I interferon (GO:0071357)2.64648250
124regulation of interferon-beta biosynthetic process (GO:0045357)2.62725444
125xenobiotic catabolic process (GO:0042178)2.61449479
126protein localization to Golgi apparatus (GO:0034067)2.56951869
127negative regulation of humoral immune response (GO:0002921)2.51298300
128regulation of type B pancreatic cell apoptotic process (GO:2000674)2.50224599
129negative regulation of execution phase of apoptosis (GO:1900118)2.47852092
130antigen processing and presentation via MHC class Ib (GO:0002475)2.47066874
131regulation of regulatory T cell differentiation (GO:0045589)2.44149399
132regulation of extracellular matrix disassembly (GO:0010715)2.43338063
133positive regulation of granulocyte differentiation (GO:0030854)2.42598506
134succinate metabolic process (GO:0006105)2.41828214
135Golgi to endosome transport (GO:0006895)2.41740693
136negative regulation of protein autophosphorylation (GO:0031953)2.40103652
137cellular response to exogenous dsRNA (GO:0071360)2.39702299
138fatty acid transmembrane transport (GO:1902001)2.39032555
139interferon-gamma-mediated signaling pathway (GO:0060333)2.34268562
140fusion of sperm to egg plasma membrane (GO:0007342)2.29349248
141positive regulation of glycolytic process (GO:0045821)2.29110339
142peptide hormone processing (GO:0016486)2.27270693
143cellular response to growth hormone stimulus (GO:0071378)2.26988534
144phosphatidylethanolamine metabolic process (GO:0046337)2.26117098
145early endosome to late endosome transport (GO:0045022)2.25538642
146carnitine transport (GO:0015879)2.24370744
147amino-acid betaine transport (GO:0015838)2.24370744
148neutrophil activation involved in immune response (GO:0002283)2.23361189
149oligosaccharide catabolic process (GO:0009313)2.23337499
150negative regulation of T cell mediated immunity (GO:0002710)2.23135147
151phosphatidylethanolamine biosynthetic process (GO:0006646)2.22053282
152regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.20009389
153production of molecular mediator involved in inflammatory response (GO:0002532)2.17438205
154regulation of memory T cell differentiation (GO:0043380)2.16646672
155carnitine shuttle (GO:0006853)2.16001609
156regulation of B cell receptor signaling pathway (GO:0050855)2.14499258
157ethanol oxidation (GO:0006069)2.14165812
158peptide catabolic process (GO:0043171)2.13263108
159sexual reproduction (GO:0019953)2.12741402
160short-chain fatty acid metabolic process (GO:0046459)2.12587566
161detection of other organism (GO:0098543)2.12373901
162regulation of protein glycosylation (GO:0060049)2.12360529
163negative regulation of glycoprotein biosynthetic process (GO:0010561)2.11483956
164intra-Golgi vesicle-mediated transport (GO:0006891)2.08685105
165NAD biosynthetic process (GO:0009435)2.08125391
166regulation of leukocyte mediated cytotoxicity (GO:0001910)2.07718116
167detection of bacterium (GO:0016045)2.07073945
168response to interleukin-15 (GO:0070672)2.05985873
169regulation of sequestering of triglyceride (GO:0010889)2.05730481
170regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.04617953
171angiotensin maturation (GO:0002003)2.04164531
172cellular response to interleukin-15 (GO:0071350)2.03196992
173positive regulation by symbiont of host defense response (GO:0052509)2.02950942
174modulation by symbiont of host defense response (GO:0052031)2.02950942
175modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.02950942
176modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.02950942
177positive regulation by organism of defense response of other organism involved in symbiotic interact2.02950942
178modulation by symbiont of host immune response (GO:0052553)2.02950942
179microglial cell activation (GO:0001774)2.02473832
180sperm motility (GO:0030317)2.01919751
181negative regulation of lymphocyte mediated immunity (GO:0002707)2.01622432
182regulation of glycolytic process (GO:0006110)2.00409480
183positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.00092008
184organic cation transport (GO:0015695)1.99112037
185regulation of granulocyte differentiation (GO:0030852)1.98668512
186immunoglobulin mediated immune response (GO:0016064)1.97791810
187valine metabolic process (GO:0006573)1.97180625
188lipid storage (GO:0019915)1.96553960
189cellular response to ethanol (GO:0071361)1.96441633
190response to interferon-beta (GO:0035456)1.95917225
191regulation of necroptotic process (GO:0060544)1.95907674
192sphingomyelin metabolic process (GO:0006684)1.95422167
193macrophage activation involved in immune response (GO:0002281)1.95403963
194nicotinamide nucleotide biosynthetic process (GO:0019359)1.95012709
195pyridine nucleotide biosynthetic process (GO:0019363)1.95012709
196acrosome reaction (GO:0007340)1.94862693
197regulation of cellular extravasation (GO:0002691)1.94195350
198positive regulation of interferon-alpha production (GO:0032727)1.93844435
199regulation of interferon-alpha production (GO:0032647)1.93434269
200definitive hemopoiesis (GO:0060216)1.93187759

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.20806723
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.68266020
3E2F7_22180533_ChIP-Seq_HELA_Human4.46740404
4MYC_18555785_ChIP-Seq_MESCs_Mouse4.00339131
5ETS1_20019798_ChIP-Seq_JURKAT_Human3.83202099
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.82955644
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.70502154
8CREB1_15753290_ChIP-ChIP_HEK293T_Human3.48290620
9GABP_17652178_ChIP-ChIP_JURKAT_Human3.42607448
10EST1_17652178_ChIP-ChIP_JURKAT_Human3.39339778
11NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.36839881
12EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.26951686
13FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.23441209
14IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.19610328
15FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.13787975
16MYC_19079543_ChIP-ChIP_MESCs_Mouse3.09556421
17MYC_18358816_ChIP-ChIP_MESCs_Mouse2.96369381
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.82614350
19FOXM1_23109430_ChIP-Seq_U2OS_Human2.77295109
20MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.70112959
21STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.66971105
22E2F4_17652178_ChIP-ChIP_JURKAT_Human2.50032139
23VDR_23849224_ChIP-Seq_CD4+_Human2.47717978
24NANOG_18555785_ChIP-Seq_MESCs_Mouse2.29515547
25FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.28654034
26AR_21909140_ChIP-Seq_LNCAP_Human2.23830641
27NELFA_20434984_ChIP-Seq_ESCs_Mouse2.23257834
28CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.20155874
29CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.14258873
30YY1_21170310_ChIP-Seq_MESCs_Mouse2.13956540
31POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.12793327
32XRN2_22483619_ChIP-Seq_HELA_Human2.10838052
33E2F1_18555785_ChIP-Seq_MESCs_Mouse2.10575415
34RUNX_20019798_ChIP-Seq_JUKART_Human2.08204660
35GABP_19822575_ChIP-Seq_HepG2_Human2.06503021
36HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.05173455
37ZNF263_19887448_ChIP-Seq_K562_Human1.98539303
38HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.95469464
39SMAD_19615063_ChIP-ChIP_OVARY_Human1.93739604
40THAP11_20581084_ChIP-Seq_MESCs_Mouse1.92785500
41* DCP1A_22483619_ChIP-Seq_HELA_Human1.91550384
42EGR1_23403033_ChIP-Seq_LIVER_Mouse1.90740903
43MYCN_18555785_ChIP-Seq_MESCs_Mouse1.90046264
44IRF8_21731497_ChIP-ChIP_J774_Mouse1.86694228
45EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.86068242
46POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.85575625
47FOXP3_21729870_ChIP-Seq_TREG_Human1.84042373
48IRF8_27001747_Chip-Seq_BMDM_Mouse1.83349882
49LXR_22158963_ChIP-Seq_LIVER_Mouse1.82176891
50RXR_22158963_ChIP-Seq_LIVER_Mouse1.81635314
51GATA2_21666600_ChIP-Seq_HMVEC_Human1.79202130
52PPARA_22158963_ChIP-Seq_LIVER_Mouse1.70301628
53SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.68381941
54CDX2_19796622_ChIP-Seq_MESCs_Mouse1.67731409
55BP1_19119308_ChIP-ChIP_Hs578T_Human1.65824317
56KDM5A_27292631_Chip-Seq_BREAST_Human1.65649546
57TTF2_22483619_ChIP-Seq_HELA_Human1.65646990
58LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.64198767
59ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.63098972
60STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.62752360
61MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.61629766
62SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.61622974
63PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.60088326
64YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.59548535
65NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.58495543
66MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.58201687
67GATA1_22025678_ChIP-Seq_K562_Human1.54823537
68Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.54729961
69SRF_21415370_ChIP-Seq_HL-1_Mouse1.54296381
70NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.54206938
71ELF1_17652178_ChIP-ChIP_JURKAT_Human1.52759904
72STAT3_1855785_ChIP-Seq_MESCs_Mouse1.51638613
73STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.51635815
74ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.51235518
75CIITA_25753668_ChIP-Seq_RAJI_Human1.50853556
76* MYB_26560356_Chip-Seq_TH2_Human1.50589926
77TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.49520686
78NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.46754542
79* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.46309229
80VDR_24787735_ChIP-Seq_THP-1_Human1.46020863
81TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.43172818
82PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.41697620
83KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.41518340
84KLF4_18555785_ChIP-Seq_MESCs_Mouse1.40409568
85RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.38391231
86ESR1_20079471_ChIP-ChIP_T-47D_Human1.37805860
87IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.36943060
88FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.36382653
89FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.35094963
90ZFX_18555785_ChIP-Seq_MESCs_Mouse1.33334186
91GATA3_27048872_Chip-Seq_THYMUS_Human1.32952712
92ELK1_22589737_ChIP-Seq_MCF10A_Human1.32870490
93SPI1_23127762_ChIP-Seq_K562_Human1.32423098
94POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.31853232
95GATA3_26560356_Chip-Seq_TH2_Human1.30609204
96NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.30173531
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.26641399
98LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.25016937
99ELK1_19687146_ChIP-ChIP_HELA_Human1.25006903
100GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.24699327
101GATA1_19941826_ChIP-Seq_K562_Human1.24533483
102E2F1_21310950_ChIP-Seq_MCF-7_Human1.22864779
103PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.22741659
104NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.21539581
105GATA2_19941826_ChIP-Seq_K562_Human1.19716291
106FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.18686222
107NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.17358880
108CJUN_26792858_Chip-Seq_BT549_Human1.17127401
109JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16893428
110RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.16510606
111TCF3_18692474_ChIP-Seq_MEFs_Mouse1.16341052
112* AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.16214546
113* MYB_26560356_Chip-Seq_TH1_Human1.16133399
114BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.16016060
115FOXO3_23340844_ChIP-Seq_DLD1_Human1.15491851
116GATA4_25053715_ChIP-Seq_YYC3_Human1.15237630
117SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.14693010
118SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.13169539
119RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.13072105
120DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.13036085
121BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.12813157
122MYB_21317192_ChIP-Seq_ERMYB_Mouse1.11713722
123TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.11516242
124OCT4_18692474_ChIP-Seq_MEFs_Mouse1.11172902
125TFEB_21752829_ChIP-Seq_HELA_Human1.10659430
126ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10243138
127SALL1_21062744_ChIP-ChIP_HESCs_Human1.09981639
128FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.09695682
129CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.09275155
130KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.07486768
131ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.07456565
132GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07143736
133EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.06170995
134SOX2_18692474_ChIP-Seq_MEFs_Mouse1.05792679
135CDX2_22108803_ChIP-Seq_LS180_Human1.05353750
136PADI4_21655091_ChIP-ChIP_MCF-7_Human1.05325649
137FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.05200727
138PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.04804454
139ER_23166858_ChIP-Seq_MCF-7_Human1.04410147
140HOXB4_20404135_ChIP-ChIP_EML_Mouse1.02321389
141TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.01528812
142CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.99692627
143SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99116968
144JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.98415356
145FOXA2_19822575_ChIP-Seq_HepG2_Human0.98033041
146MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.97871516
147TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.96674434
148* NANOG_21062744_ChIP-ChIP_HESCs_Human0.96615645
149SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.96558091
150SMRT_27268052_Chip-Seq_Bcells_Human0.96240758
151NANOG_18692474_ChIP-Seq_MEFs_Mouse0.95872601
152SOX2_27498859_Chip-Seq_STOMACH_Mouse0.95660409
153GATA3_21878914_ChIP-Seq_MCF-7_Human0.95468788
154TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.94999977
155CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.94081159
156E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.93815234
157STAT4_19710469_ChIP-ChIP_TH1__Mouse0.93399777
158KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.93366190
159KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.93366190
160KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.93366190
161CEBPB_22108803_ChIP-Seq_LS180_Human0.93229466
162SCL_19346495_ChIP-Seq_HPC-7_Human0.93213736
163SOX17_20123909_ChIP-Seq_XEN_Mouse0.92631957
164VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.91088002
165SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.91081399
166POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.90159036
167PPAR_26484153_Chip-Seq_NCI-H1993_Human0.89973824
168SPI1_23547873_ChIP-Seq_NB4_Human0.89812117
169* FOXA1_21572438_ChIP-Seq_LNCaP_Human0.89798484
170CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.89770489
171SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.89599013
172FOXA1_25552417_ChIP-Seq_VCAP_Human0.89519167
173ZNF217_24962896_ChIP-Seq_MCF-7_Human0.89483199
174PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.88951835
175VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.88873263
176GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.87956280
177STAT1_20625510_ChIP-Seq_HELA_Human0.87893654
178E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.86692913
179STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.85934311
180MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.85565392
181ARNT_22903824_ChIP-Seq_MCF-7_Human0.85000622
182* FOXA1_25329375_ChIP-Seq_VCAP_Human0.84858259
183* FOXA1_27270436_Chip-Seq_PROSTATE_Human0.84858259
184SOX2_20726797_ChIP-Seq_SW620_Human0.84413465
185SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.83684094
186TBX20_22328084_ChIP-Seq_HEART_Mouse0.83656527
187TBX20_22080862_ChIP-Seq_HEART_Mouse0.83656527
188CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.83010844
189P300_27268052_Chip-Seq_Bcells_Human0.82183702
190AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.81779445
191KAP1_22055183_ChIP-Seq_ESCs_Mouse0.81279418
192VDR_24763502_ChIP-Seq_THP-1_Human0.81262083
193AR_20517297_ChIP-Seq_VCAP_Human0.80988916
194FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.80580349
195ETV2_25802403_ChIP-Seq_MESCs_Mouse0.80580056
196NANOG_20526341_ChIP-Seq_ESCs_Human0.79931265
197CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.78885553
198TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.78368819

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching7.25016896
2MP0003111_abnormal_nucleus_morphology5.34990242
3MP0004957_abnormal_blastocyst_morpholog4.71924217
4MP0008260_abnormal_autophagy4.48043874
5MP0009840_abnormal_foam_cell4.19242543
6MP0003718_maternal_effect3.91712374
7MP0003077_abnormal_cell_cycle3.41373232
8MP0010094_abnormal_chromosome_stability3.31211373
9MP0002837_dystrophic_cardiac_calcinosis3.07159741
10MP0008058_abnormal_DNA_repair2.85297670
11MP0008932_abnormal_embryonic_tissue2.80708108
12MP0003724_increased_susceptibility_to2.62516581
13MP0008057_abnormal_DNA_replication2.48710802
14MP0003786_premature_aging2.46957322
15MP0001730_embryonic_growth_arrest2.43827329
16MP0002139_abnormal_hepatobiliary_system2.43033373
17MP0001835_abnormal_antigen_presentation2.27699567
18MP0005451_abnormal_body_composition2.20273864
19MP0005377_hearing/vestibular/ear_phenot2.04867560
20MP0003878_abnormal_ear_physiology2.04867560
21MP0002166_altered_tumor_susceptibility2.00843513
22MP0003806_abnormal_nucleotide_metabolis1.99836049
23MP0009780_abnormal_chondrocyte_physiolo1.97260556
24MP0000685_abnormal_immune_system1.96381604
25MP0005410_abnormal_fertilization1.89567077
26MP0003436_decreased_susceptibility_to1.83478804
27MP0003315_abnormal_perineum_morphology1.83002836
28MP0001542_abnormal_bone_strength1.81924432
29MP0004019_abnormal_vitamin_homeostasis1.81268768
30MP0009785_altered_susceptibility_to1.81055823
31MP0001661_extended_life_span1.80659856
32MP0000013_abnormal_adipose_tissue1.80257328
33MP0001672_abnormal_embryogenesis/_devel1.79888473
34MP0005380_embryogenesis_phenotype1.79888473
35MP0003300_gastrointestinal_ulcer1.75780031
36MP0005365_abnormal_bile_salt1.72304913
37MP0005395_other_phenotype1.70916915
38MP0003567_abnormal_fetal_cardiomyocyte1.67566162
39MP0003011_delayed_dark_adaptation1.66511126
40MP0000350_abnormal_cell_proliferation1.66262447
41MP0010329_abnormal_lipoprotein_level1.63637001
42MP0008007_abnormal_cellular_replicative1.58385862
43MP0005379_endocrine/exocrine_gland_phen1.55889227
44MP0003984_embryonic_growth_retardation1.55307753
45MP0002080_prenatal_lethality1.54095927
46MP0002088_abnormal_embryonic_growth/wei1.54007175
47MP0010352_gastrointestinal_tract_polyps1.53990839
48MP0005387_immune_system_phenotype1.51511393
49MP0001790_abnormal_immune_system1.51511393
50MP0004484_altered_response_of1.50356953
51MP0006035_abnormal_mitochondrial_morpho1.50147196
52MP0001697_abnormal_embryo_size1.48200185
53MP0003123_paternal_imprinting1.47393755
54MP0002419_abnormal_innate_immunity1.47212429
55MP0006082_CNS_inflammation1.44313254
56MP0004036_abnormal_muscle_relaxation1.43857799
57MP0005025_abnormal_response_to1.43485047
58MP0001727_abnormal_embryo_implantation1.43358354
59MP0003045_fibrosis1.40634950
60MP0004130_abnormal_muscle_cell1.38451880
61MP0000358_abnormal_cell_content/1.38310357
62MP0005000_abnormal_immune_tolerance1.38188125
63MP0004510_myositis1.38035761
64MP0001800_abnormal_humoral_immune1.36471004
65MP0002148_abnormal_hypersensitivity_rea1.36084358
66MP0001756_abnormal_urination1.35852273
67MP0003252_abnormal_bile_duct1.35029411
68MP0001533_abnormal_skeleton_physiology1.33969242
69MP0002723_abnormal_immune_serum1.32419038
70MP0003656_abnormal_erythrocyte_physiolo1.32115327
71MP0002006_tumorigenesis1.31724499
72MP0010155_abnormal_intestine_physiology1.31366100
73MP0003191_abnormal_cellular_cholesterol1.30684553
74MP0008877_abnormal_DNA_methylation1.30322402
75MP0003646_muscle_fatigue1.29224771
76MP0004215_abnormal_myocardial_fiber1.28855190
77MP0002085_abnormal_embryonic_tissue1.26683102
78MP0002138_abnormal_hepatobiliary_system1.25731043
79MP0005332_abnormal_amino_acid1.25668852
80MP0008469_abnormal_protein_level1.24409897
81MP0002693_abnormal_pancreas_physiology1.22955897
82MP0003763_abnormal_thymus_physiology1.22252683
83MP0005464_abnormal_platelet_physiology1.22155047
84MP0003221_abnormal_cardiomyocyte_apopto1.22108220
85MP0005389_reproductive_system_phenotype1.20921693
86MP0005085_abnormal_gallbladder_physiolo1.20442110
87MP0001765_abnormal_ion_homeostasis1.18541161
88MP0002086_abnormal_extraembryonic_tissu1.18347406
89MP0001845_abnormal_inflammatory_respons1.17953345
90MP0009333_abnormal_splenocyte_physiolog1.17117256
91MP0003172_abnormal_lysosome_physiology1.16500714
92MP0005375_adipose_tissue_phenotype1.16117167
93MP0002452_abnormal_antigen_presenting1.15747231
94MP0003828_pulmonary_edema1.15564327
95MP0004084_abnormal_cardiac_muscle1.14810531
96MP0002118_abnormal_lipid_homeostasis1.14535573
97MP0000003_abnormal_adipose_tissue1.14213727
98MP0002971_abnormal_brown_adipose1.13461348
99MP0003938_abnormal_ear_development1.12672418
100MP0005666_abnormal_adipose_tissue1.12417497
101MP0005360_urolithiasis1.10776576
102MP0002420_abnormal_adaptive_immunity1.10304599
103MP0005058_abnormal_lysosome_morphology1.10215972
104MP0005671_abnormal_response_to1.10181327
105MP0002210_abnormal_sex_determination1.08462607
106MP0001819_abnormal_immune_cell1.08173664
107MP0005408_hypopigmentation1.07843935
108MP0005164_abnormal_response_to1.07316083
109MP0001919_abnormal_reproductive_system1.06343431
110MP0001145_abnormal_male_reproductive1.06141830
111MP0005535_abnormal_body_temperature1.05932495
112MP0008775_abnormal_heart_ventricle1.04845298
113MP0000313_abnormal_cell_death1.04676339
114MP0009115_abnormal_fat_cell1.03513682
115MP0002396_abnormal_hematopoietic_system1.03307218
116MP0002078_abnormal_glucose_homeostasis1.02624184
117MP0002084_abnormal_developmental_patter1.01740121
118MP0002332_abnormal_exercise_endurance1.01454306
119MP0001986_abnormal_taste_sensitivity1.01310207
120MP0002132_abnormal_respiratory_system1.01114625
121MP0001764_abnormal_homeostasis1.01063803
122MP0009764_decreased_sensitivity_to0.99760985
123MP0005165_increased_susceptibility_to0.99757585
124MP0002160_abnormal_reproductive_system0.99707345
125MP0005636_abnormal_mineral_homeostasis0.99485409
126MP0004043_abnormal_pH_regulation0.98128979
127MP0002933_joint_inflammation0.96950648
128MP0001929_abnormal_gametogenesis0.96157576
129MP0001666_abnormal_nutrient_absorption0.95911623
130MP0008961_abnormal_basal_metabolism0.94892883
131MP0001873_stomach_inflammation0.94340909
132MP0003941_abnormal_skin_development0.93887987
133MP0002269_muscular_atrophy0.93753440
134MP0000609_abnormal_liver_physiology0.93394810
135MP0003329_amyloid_beta_deposits0.92798476
136MP0009672_abnormal_birth_weight0.92146954
137MP0003186_abnormal_redox_activity0.92139454
138MP0002009_preneoplasia0.91536810
139MP0000750_abnormal_muscle_regeneration0.90298420
140MP0000747_muscle_weakness0.90018000
141MP0000569_abnormal_digit_pigmentation0.89888320
142MP0008875_abnormal_xenobiotic_pharmacok0.89231801
143MP0005166_decreased_susceptibility_to0.89011999
144MP0005174_abnormal_tail_pigmentation0.88627480
145MP0003866_abnormal_defecation0.88042813
146MP0006036_abnormal_mitochondrial_physio0.87744383
147MP0005448_abnormal_energy_balance0.87265820
148MP0000647_abnormal_sebaceous_gland0.87155285
149MP0005384_cellular_phenotype0.87147960
150MP0003183_abnormal_peptide_metabolism0.86735526
151MP0005621_abnormal_cell_physiology0.86031518
152MP0000230_abnormal_systemic_arterial0.85507617
153MP0002019_abnormal_tumor_incidence0.85236751
154MP0001944_abnormal_pancreas_morphology0.84793020
155MP0000653_abnormal_sex_gland0.83985897
156MP0003119_abnormal_digestive_system0.82286178
157MP0010307_abnormal_tumor_latency0.81325093
158MP0004381_abnormal_hair_follicle0.79430798
159MP0000627_abnormal_mammary_gland0.77401128
160MP0005075_abnormal_melanosome_morpholog0.76415508
161MP0000537_abnormal_urethra_morphology0.76091639
162MP0005330_cardiomyopathy0.75325182
163MP0004197_abnormal_fetal_growth/weight/0.72952206
164MP0003950_abnormal_plasma_membrane0.71818824
165MP0005670_abnormal_white_adipose0.71486582
166MP0000490_abnormal_crypts_of0.71417944
167MP0000428_abnormal_craniofacial_morphol0.69242304
168MP0001293_anophthalmia0.68119376
169MP0003136_yellow_coat_color0.61605071
170MP0003936_abnormal_reproductive_system0.58804746
171MP0003195_calcinosis0.58553924
172MP0003699_abnormal_female_reproductive0.58501705
173MP0009703_decreased_birth_body0.58114572
174MP0003937_abnormal_limbs/digits/tail_de0.57970220
175MP0002161_abnormal_fertility/fecundity0.57108385
176MP0005319_abnormal_enzyme/_coenzyme0.55350615
177MP0000377_abnormal_hair_follicle0.54464757
178MP0002111_abnormal_tail_morphology0.54025675
179MP0002092_abnormal_eye_morphology0.52977195
180MP0003698_abnormal_male_reproductive0.52924873
181MP0005397_hematopoietic_system_phenotyp0.52735051
182MP0001545_abnormal_hematopoietic_system0.52735051
183MP0009643_abnormal_urine_homeostasis0.52623419
184MP0004264_abnormal_extraembryonic_tissu0.52323041
185MP0002876_abnormal_thyroid_physiology0.51751835

Predicted human phenotypes

RankGene SetZ-score
1Breast hypoplasia (HP:0003187)5.44699933
2Birth length less than 3rd percentile (HP:0003561)5.19830671
3Cerebral hypomyelination (HP:0006808)4.98670326
4Abnormality of the umbilical cord (HP:0010881)4.64497195
5Rough bone trabeculation (HP:0100670)4.38890594
6Carpal bone hypoplasia (HP:0001498)4.33461133
7Ureteral duplication (HP:0000073)4.31939953
8Hyperglycinemia (HP:0002154)3.94263382
9Asymmetric septal hypertrophy (HP:0001670)3.59994404
10Prolonged neonatal jaundice (HP:0006579)3.57923674
11Megaloblastic anemia (HP:0001889)3.57112820
12Hyperglycinuria (HP:0003108)3.55583679
13Patent foramen ovale (HP:0001655)3.54015783
14Impulsivity (HP:0100710)3.34725371
15Premature ovarian failure (HP:0008209)3.31022496
16Progressive muscle weakness (HP:0003323)3.23065120
17CNS hypomyelination (HP:0003429)3.20541159
18Secondary amenorrhea (HP:0000869)3.20176245
19Multiple enchondromatosis (HP:0005701)3.19699685
20Abnormal trabecular bone morphology (HP:0100671)3.18573105
21Aplasia/Hypoplasia of the patella (HP:0006498)3.17940961
22Myositis (HP:0100614)3.16353732
23Abnormality of serine family amino acid metabolism (HP:0010894)3.14655821
24Abnormality of glycine metabolism (HP:0010895)3.14655821
25Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.13716944
26Entropion (HP:0000621)3.10613434
27Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.10236470
28Abnormality of alanine metabolism (HP:0010916)3.10236470
29Hyperalaninemia (HP:0003348)3.10236470
30Patellar aplasia (HP:0006443)3.09336420
31Abnormality of the fetal cardiovascular system (HP:0010948)3.00461568
32Abnormal umbilical cord blood vessels (HP:0011403)3.00461568
33Single umbilical artery (HP:0001195)3.00461568
34Elevated erythrocyte sedimentation rate (HP:0003565)2.98832125
35Abnormality of the anterior horn cell (HP:0006802)2.98703622
36Degeneration of anterior horn cells (HP:0002398)2.98703622
37Orchitis (HP:0100796)2.97064735
38Abnormalities of placenta or umbilical cord (HP:0001194)2.96604481
39Abnormality of serum amino acid levels (HP:0003112)2.90053026
40Aplasia/Hypoplasia involving the musculature (HP:0001460)2.84368580
41Retrobulbar optic neuritis (HP:0100654)2.82371078
42Optic neuritis (HP:0100653)2.82371078
43Absent radius (HP:0003974)2.81962490
44Personality changes (HP:0000751)2.72138281
45Increased CSF protein (HP:0002922)2.70345705
46Gastrointestinal infarctions (HP:0005244)2.65767498
47Aplasia involving forearm bones (HP:0009822)2.63969023
48Absent forearm bone (HP:0003953)2.63969023
49Death in infancy (HP:0001522)2.61341766
50Absent hand (HP:0004050)2.58328031
51Hyporeflexia of lower limbs (HP:0002600)2.57712162
52Sparse eyelashes (HP:0000653)2.56667108
53Delusions (HP:0000746)2.53098722
54Atrioventricular block (HP:0001678)2.52986566
55Abnormality of the distal phalanges of the toes (HP:0010182)2.52571828
56Spastic paraparesis (HP:0002313)2.51361994
57Vacuolated lymphocytes (HP:0001922)2.49753485
58Abnormality of glycolipid metabolism (HP:0010969)2.49691019
59Abnormality of liposaccharide metabolism (HP:0010968)2.49691019
60Abnormality of glycosphingolipid metabolism (HP:0004343)2.49691019
61Large for gestational age (HP:0001520)2.48837157
62Bundle branch block (HP:0011710)2.48610651
63Postnatal microcephaly (HP:0005484)2.48248024
64Microretrognathia (HP:0000308)2.48136323
65Premature rupture of membranes (HP:0001788)2.47514929
66Ketoacidosis (HP:0001993)2.47345752
67Trismus (HP:0000211)2.47092781
68Abnormality of macrophages (HP:0004311)2.45967642
69Eczematoid dermatitis (HP:0000976)2.45811910
70Glucose intolerance (HP:0000833)2.44988460
71Macrocytic anemia (HP:0001972)2.41785993
72Hyperglycemia (HP:0003074)2.41671925
73Oral leukoplakia (HP:0002745)2.37327240
74Congenital sensorineural hearing impairment (HP:0008527)2.36165301
75Congenital, generalized hypertrichosis (HP:0004540)2.36145067
76Chronic diarrhea (HP:0002028)2.32925878
77Short nail (HP:0001799)2.32722447
78Hyperkalemia (HP:0002153)2.31697797
79Conjunctival hamartoma (HP:0100780)2.31643313
80Abnormal spermatogenesis (HP:0008669)2.31410396
81Ventricular fibrillation (HP:0001663)2.30992630
82Palpitations (HP:0001962)2.29763519
83Exercise-induced myalgia (HP:0003738)2.29337318
84Fatigue (HP:0012378)2.29069477
85Prolonged bleeding time (HP:0003010)2.28514000
86Congenital malformation of the right heart (HP:0011723)2.28047017
87Double outlet right ventricle (HP:0001719)2.28047017
88Sudden death (HP:0001699)2.27661185
89Stomatitis (HP:0010280)2.26506219
90Dysautonomia (HP:0002459)2.26210413
91CNS demyelination (HP:0007305)2.25698315
92Albinism (HP:0001022)2.25210733
93Ventricular tachycardia (HP:0004756)2.23516438
94Right ventricular cardiomyopathy (HP:0011663)2.23194591
95Hematochezia (HP:0002573)2.22720489
96Abnormality of mucopolysaccharide metabolism (HP:0011020)2.22474499
97Abnormality of polysaccharide metabolism (HP:0011012)2.22474499
98Abnormality of glycosaminoglycan metabolism (HP:0004371)2.22474499
99Abnormal delayed hypersensitivity skin test (HP:0002963)2.22164600
100Gout (HP:0001997)2.21922417
101Abnormality of the renal cortex (HP:0011035)2.21843379
102Difficulty climbing stairs (HP:0003551)2.20590125
103Episodic fever (HP:0001954)2.20368517
104Severe visual impairment (HP:0001141)2.19881576
105Dysostosis multiplex (HP:0000943)2.19580161
106Gingival bleeding (HP:0000225)2.19083760
107Amyloidosis (HP:0011034)2.17098508
108Attenuation of retinal blood vessels (HP:0007843)2.15918570
109Abnormality of aromatic amino acid family metabolism (HP:0004338)2.15780102
110Myoglobinuria (HP:0002913)2.14156032
111Testicular atrophy (HP:0000029)2.13742733
112Urinary glycosaminoglycan excretion (HP:0003541)2.12924239
113Mucopolysacchariduria (HP:0008155)2.12924239
114Joint swelling (HP:0001386)2.12867749
115Renal cortical cysts (HP:0000803)2.12208407
116Unsteady gait (HP:0002317)2.08472490
117Progressive external ophthalmoplegia (HP:0000590)2.08318815
118Split foot (HP:0001839)2.08168360
119Atrophy/Degeneration involving motor neurons (HP:0007373)2.08071729
120Abnormality of the labia minora (HP:0012880)2.06932930
121Nausea (HP:0002018)2.06829392
122Metaphyseal dysplasia (HP:0100255)2.06573378
123Vasculitis (HP:0002633)2.06127408
124Vascular calcification (HP:0004934)2.02195206
125Keratoconjunctivitis (HP:0001096)2.01347375
126Abnormality of T cell physiology (HP:0011840)2.01200791
127Brittle hair (HP:0002299)1.99914854
128Neoplasm of the pancreas (HP:0002894)1.99823725
129Keratoconjunctivitis sicca (HP:0001097)1.99533874
130Proximal tubulopathy (HP:0000114)1.99487179
131Poor head control (HP:0002421)1.99360355
132Hypoplasia of the capital femoral epiphysis (HP:0003090)1.99048302
133Athetosis (HP:0002305)1.98376270
134Stillbirth (HP:0003826)1.98008592
135Horseshoe kidney (HP:0000085)1.97651064
136Syncope (HP:0001279)1.97362682
137Pigmentary retinal degeneration (HP:0001146)1.97310069
138Bone marrow hypocellularity (HP:0005528)1.97089312
139Pulmonary infiltrates (HP:0002113)1.96598507
140Abnormal number of erythroid precursors (HP:0012131)1.96576329
141Hypoglycemic coma (HP:0001325)1.96558590
142Glycosuria (HP:0003076)1.96484746
143Abnormality of urine glucose concentration (HP:0011016)1.96484746
144Insulin-resistant diabetes mellitus (HP:0000831)1.95479275
145Submucous cleft hard palate (HP:0000176)1.95176111
146Abnormality of cells of the erythroid lineage (HP:0012130)1.94185052
147Spinal muscular atrophy (HP:0007269)1.93938063
148Recurrent fungal infections (HP:0002841)1.93414756
149Atrial fibrillation (HP:0005110)1.92738811
150Ketosis (HP:0001946)1.92642172
151Ventricular arrhythmia (HP:0004308)1.92219215
152Tetraplegia (HP:0002445)1.91711976
153Muscle fiber splitting (HP:0003555)1.91681119
154Aplasia/hypoplasia of the humerus (HP:0006507)1.90834011
155Hemoptysis (HP:0002105)1.90678840
156Recurrent gram-negative bacterial infections (HP:0005420)1.90526010
157Rhabdomyolysis (HP:0003201)1.90068859
158Tongue fasciculations (HP:0001308)1.89793477
159Aplasia/Hypoplasia of the earlobes (HP:0009906)1.88757865
160Meckel diverticulum (HP:0002245)1.88736109
1613-Methylglutaconic aciduria (HP:0003535)1.87169155
162Acute hepatic failure (HP:0006554)1.85749307
163Arterial thrombosis (HP:0004420)1.84896924
164Microvesicular hepatic steatosis (HP:0001414)1.84796533
165Malnutrition (HP:0004395)1.83380257
166Autoimmune hemolytic anemia (HP:0001890)1.82769177
167Short clavicles (HP:0000894)1.82693152
168Abnormality of dicarboxylic acid metabolism (HP:0010995)1.82175914
169Dicarboxylic aciduria (HP:0003215)1.82175914
170Metabolic alkalosis (HP:0200114)1.82155010
171Recurrent abscess formation (HP:0002722)1.81669969
172Cardiovascular calcification (HP:0011915)1.81506945
173Progressive neurologic deterioration (HP:0002344)1.81418375
174Increased IgE level (HP:0003212)1.81408812
175Abnormality of fatty-acid metabolism (HP:0004359)1.78835284
176Abnormal glucose tolerance (HP:0001952)1.78069544
177Joint hemorrhage (HP:0005261)1.77925451
178Thyroiditis (HP:0100646)1.77698845
179Acne (HP:0001061)1.77123401
180Hyperlipoproteinemia (HP:0010980)1.76605484
181Systemic lupus erythematosus (HP:0002725)1.76250748
182Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.75985753
183Bone cyst (HP:0012062)1.74805061
184Muscle fibrillation (HP:0010546)1.74272210
185Primary atrial arrhythmia (HP:0001692)1.70351018
186Polyneuropathy (HP:0001271)1.69636665
187Facial shape deformation (HP:0011334)1.68868074
188Potter facies (HP:0002009)1.68868074
189Cheilitis (HP:0100825)1.68162463
190Inflammation of the large intestine (HP:0002037)1.67974174
191Menstrual irregularities (HP:0000858)1.67691122
192Abnormality of dental color (HP:0011073)1.67156642

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB16.03241885
2WEE15.68279969
3PNCK4.81978096
4EPHA24.61249481
5FRK4.00535516
6STK163.36359060
7TSSK63.25494587
8AKT32.74013667
9PLK42.70443580
10EIF2AK12.62719815
11ZAK2.26390910
12TTK2.24763888
13IRAK32.18645022
14TRPM72.13242030
15TYK22.13004142
16NEK22.10819168
17SRPK12.08669453
18NEK11.98978163
19KIT1.98923864
20FGFR31.96382086
21TAOK31.90653003
22MAP4K11.89820026
23TXK1.89510599
24BRSK21.88458421
25MYLK1.84289449
26RIPK41.83608810
27ERN11.83312028
28PDK31.80364210
29PDK41.80364210
30NME21.75392389
31EPHA31.74516502
32TBK11.71598010
33BMPR21.71485667
34EIF2AK31.70710132
35JAK11.65178583
36EPHB11.64904035
37DYRK31.62657514
38MAP3K141.61256906
39PLK11.59832841
40OBSCN1.59016788
41IKBKE1.57046530
42PLK31.56057673
43MST41.55957421
44ARAF1.48016681
45PHKG11.46697559
46PHKG21.46697559
47TESK21.41403908
48PDK21.40919270
49MAPKAPK31.40635188
50INSRR1.36366038
51FER1.33966057
52ADRBK21.33695429
53TNK21.33561056
54PRKAA21.32343985
55MARK11.30703484
56JAK31.28720688
57GRK61.26672275
58BRSK11.25329069
59BRAF1.21858959
60NME11.21811564
61MAP2K61.21624509
62TEC1.21023638
63MAP3K131.20548057
64AURKA1.17247181
65PIK3CG1.15859321
66GRK11.14508750
67IKBKB1.14319503
68PTK2B1.11135582
69CHEK21.08173053
70TESK11.07791569
71CCNB11.05913748
72MST1R1.03144825
73SYK1.02870101
74MAP2K31.02663949
75MAP3K71.00743190
76FES0.99545734
77PRKCI0.99277746
78ACVR1B0.97996342
79ITK0.97489716
80CSF1R0.96366950
81MAP3K20.96149565
82FGFR40.95489348
83AURKB0.95060242
84MARK30.94770044
85CSK0.94647939
86MAPK110.94166538
87CDC42BPA0.92604245
88PDK10.91208390
89MAP3K10.86364202
90CDK40.85990920
91JAK20.85129565
92MKNK20.84060698
93HIPK20.83198482
94PDPK10.82524402
95MAP3K80.81975475
96NEK90.80760803
97BTK0.80497588
98STK38L0.80361007
99CDC70.80030560
100PAK10.79615128
101DAPK20.79372830
102PAK30.79242663
103HCK0.78861427
104PIM20.78743880
105PRKD20.78211322
106ALK0.76594056
107PIK3CA0.74603220
108DDR20.70972880
109MAP3K120.70613207
110FLT30.68361557
111MAP2K10.67808993
112LATS20.65954437
113MAP4K20.65698721
114RPS6KB20.65672592
115MKNK10.64900472
116LCK0.64892923
117LYN0.64799324
118WNK40.64768943
119PINK10.64154895
120BCKDK0.62776595
121STK390.62451460
122MAP2K20.61446719
123TGFBR20.61358892
124PAK40.61179486
125NLK0.61092267
126TTN0.60622007
127CHEK10.60583868
128PRKCQ0.59796313
129ERBB30.59085755
130WNK10.58183940
131STK240.57196535
132DYRK20.56993677
133PRKD10.56904657
134MAPK120.56338483
135CSNK1G10.54729820
136MAP3K110.54684306
137VRK10.54072063
138CSNK1E0.54056771
139ATR0.53399569
140MAPK70.53085282
141TLK10.52883368
142CSNK2A10.51673953
143STK30.51063478
144FGFR20.50657135
145CDK70.50258362
146ADRBK10.50095449
147IRAK20.49832632
148ABL20.49556501
149TAOK20.49434010
150CDK20.49102119
151EIF2AK20.49053506
152ZAP700.48937259
153CSNK2A20.47669025
154MAPK150.47662991
155SIK30.45254452
156MAP3K30.45016679
157PRKCE0.44756829
158STK100.43950562
159PRKCG0.35972607
160KDR0.33479251
161CAMKK20.33371540
162CDK10.31572104
163RPS6KA40.30048259
164IRAK40.29813448
165IRAK10.28663517
166CSNK1G30.26906509
167MELK0.25663409
168PIM10.24595624
169RPS6KA50.24301884
170NUAK10.24132006
171STK380.24038292
172MAP3K90.23841236
173MAP3K50.20336706
174MTOR0.20305758
175CAMK2G0.20178357
176ATM0.19120526
177CSNK1A10.18714094
178STK40.15277120
179ILK0.14966586
180TAOK10.10662233
181PASK0.10137913
182MAPK100.10137696
183BLK0.09670592
184CAMK2B0.08954588
185AKT20.08945559
186RAF10.08125650

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030506.07222311
2Vitamin B6 metabolism_Homo sapiens_hsa007504.59983250
3RNA polymerase_Homo sapiens_hsa030204.19309614
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.86614739
5RNA transport_Homo sapiens_hsa030133.25574475
6Regulation of autophagy_Homo sapiens_hsa041403.00339949
7DNA replication_Homo sapiens_hsa030302.88142134
8Pyrimidine metabolism_Homo sapiens_hsa002402.52701078
9Spliceosome_Homo sapiens_hsa030402.49214986
10Maturity onset diabetes of the young_Homo sapiens_hsa049502.45395324
11Ribosome_Homo sapiens_hsa030102.43625120
12Mismatch repair_Homo sapiens_hsa034302.38301611
13Type I diabetes mellitus_Homo sapiens_hsa049402.13064412
14Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.10123350
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.05718797
16Base excision repair_Homo sapiens_hsa034102.04930927
17Nucleotide excision repair_Homo sapiens_hsa034201.97169744
18Cell cycle_Homo sapiens_hsa041101.95650657
19Pentose phosphate pathway_Homo sapiens_hsa000301.90989998
20Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.89817698
21Folate biosynthesis_Homo sapiens_hsa007901.86633758
22Homologous recombination_Homo sapiens_hsa034401.84974249
23Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.82158836
24Graft-versus-host disease_Homo sapiens_hsa053321.78958215
25Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.78347068
26Fructose and mannose metabolism_Homo sapiens_hsa000511.77029687
27Tryptophan metabolism_Homo sapiens_hsa003801.76533968
28Sulfur metabolism_Homo sapiens_hsa009201.74114266
29Allograft rejection_Homo sapiens_hsa053301.73652886
30Fatty acid degradation_Homo sapiens_hsa000711.68467449
31Staphylococcus aureus infection_Homo sapiens_hsa051501.66888391
32Basal transcription factors_Homo sapiens_hsa030221.65367244
33Autoimmune thyroid disease_Homo sapiens_hsa053201.60066555
34Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.58014209
35Caffeine metabolism_Homo sapiens_hsa002321.57307560
36Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.54555476
37Intestinal immune network for IgA production_Homo sapiens_hsa046721.51982665
38ABC transporters_Homo sapiens_hsa020101.51403673
39Purine metabolism_Homo sapiens_hsa002301.48990126
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.46144370
41Glycerophospholipid metabolism_Homo sapiens_hsa005641.43777154
42PPAR signaling pathway_Homo sapiens_hsa033201.42997117
43Complement and coagulation cascades_Homo sapiens_hsa046101.36752722
44Glycosaminoglycan degradation_Homo sapiens_hsa005311.36511924
45Epstein-Barr virus infection_Homo sapiens_hsa051691.33886667
46Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.33428382
47Histidine metabolism_Homo sapiens_hsa003401.30619990
48Leishmaniasis_Homo sapiens_hsa051401.30393736
49SNARE interactions in vesicular transport_Homo sapiens_hsa041301.29004069
50Drug metabolism - other enzymes_Homo sapiens_hsa009831.28792729
51Peroxisome_Homo sapiens_hsa041461.28344874
52Nitrogen metabolism_Homo sapiens_hsa009101.27202425
53Adipocytokine signaling pathway_Homo sapiens_hsa049201.26896123
542-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.26860661
55Fanconi anemia pathway_Homo sapiens_hsa034601.25662404
56Dorso-ventral axis formation_Homo sapiens_hsa043201.23417320
57Insulin resistance_Homo sapiens_hsa049311.22355787
58Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.21827582
59p53 signaling pathway_Homo sapiens_hsa041151.21342656
60One carbon pool by folate_Homo sapiens_hsa006701.20111253
61Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.19612406
62Osteoclast differentiation_Homo sapiens_hsa043801.14024288
63Primary bile acid biosynthesis_Homo sapiens_hsa001201.11604874
64Oocyte meiosis_Homo sapiens_hsa041141.09334894
65Vitamin digestion and absorption_Homo sapiens_hsa049771.08551017
66Jak-STAT signaling pathway_Homo sapiens_hsa046301.03945027
67Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.03796155
68Hematopoietic cell lineage_Homo sapiens_hsa046401.03586486
69Asthma_Homo sapiens_hsa053101.03413488
70Chemical carcinogenesis_Homo sapiens_hsa052041.02067306
71RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.00857135
72Glutathione metabolism_Homo sapiens_hsa004801.00798927
73Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.00242819
74Fatty acid biosynthesis_Homo sapiens_hsa000610.99507431
75Carbon metabolism_Homo sapiens_hsa012000.98991797
76Fatty acid metabolism_Homo sapiens_hsa012120.98777581
77Biosynthesis of amino acids_Homo sapiens_hsa012300.96492773
78Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.96102696
79Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.92908745
80mRNA surveillance pathway_Homo sapiens_hsa030150.92753603
81African trypanosomiasis_Homo sapiens_hsa051430.91708963
82RNA degradation_Homo sapiens_hsa030180.89380418
83Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.88604613
84Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.87425785
85NF-kappa B signaling pathway_Homo sapiens_hsa040640.84476311
86NOD-like receptor signaling pathway_Homo sapiens_hsa046210.84277764
87Phenylalanine metabolism_Homo sapiens_hsa003600.84087025
88Arginine biosynthesis_Homo sapiens_hsa002200.83762032
89Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.81453031
90Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.80976764
91Starch and sucrose metabolism_Homo sapiens_hsa005000.79975514
92Selenocompound metabolism_Homo sapiens_hsa004500.79831910
93Primary immunodeficiency_Homo sapiens_hsa053400.78085575
94Pertussis_Homo sapiens_hsa051330.77766895
95Malaria_Homo sapiens_hsa051440.77285556
96Tuberculosis_Homo sapiens_hsa051520.76899843
97Propanoate metabolism_Homo sapiens_hsa006400.75298475
98Measles_Homo sapiens_hsa051620.75222886
99Influenza A_Homo sapiens_hsa051640.74003286
100Vascular smooth muscle contraction_Homo sapiens_hsa042700.73005250
101Sulfur relay system_Homo sapiens_hsa041220.72831374
102Renin secretion_Homo sapiens_hsa049240.72000535
103Toxoplasmosis_Homo sapiens_hsa051450.70190046
104Steroid hormone biosynthesis_Homo sapiens_hsa001400.68768239
105Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68341449
106Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.66751162
107B cell receptor signaling pathway_Homo sapiens_hsa046620.64896713
108Rheumatoid arthritis_Homo sapiens_hsa053230.64860833
109Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.64157474
110Tyrosine metabolism_Homo sapiens_hsa003500.64020812
111Arginine and proline metabolism_Homo sapiens_hsa003300.63914834
112Arachidonic acid metabolism_Homo sapiens_hsa005900.63429489
113Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.62409287
114Platelet activation_Homo sapiens_hsa046110.62100252
115Galactose metabolism_Homo sapiens_hsa000520.61655417
116Metabolic pathways_Homo sapiens_hsa011000.60902629
117Cyanoamino acid metabolism_Homo sapiens_hsa004600.60782927
118Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.59321719
119TNF signaling pathway_Homo sapiens_hsa046680.58891620
120Toll-like receptor signaling pathway_Homo sapiens_hsa046200.58593695
121T cell receptor signaling pathway_Homo sapiens_hsa046600.58514086
122Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.57047695
123Sphingolipid metabolism_Homo sapiens_hsa006000.56791463
124Viral myocarditis_Homo sapiens_hsa054160.54662660
125Pancreatic secretion_Homo sapiens_hsa049720.53615657
126Antigen processing and presentation_Homo sapiens_hsa046120.53193200
127Huntingtons disease_Homo sapiens_hsa050160.52298145
128Circadian rhythm_Homo sapiens_hsa047100.52254792
129Insulin secretion_Homo sapiens_hsa049110.51591873
130Glucagon signaling pathway_Homo sapiens_hsa049220.50821290
131Lysosome_Homo sapiens_hsa041420.50699611
132Hepatitis C_Homo sapiens_hsa051600.50041550
133Non-homologous end-joining_Homo sapiens_hsa034500.49916050
134Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.49545505
135Renin-angiotensin system_Homo sapiens_hsa046140.48534645
136beta-Alanine metabolism_Homo sapiens_hsa004100.41964098
137Linoleic acid metabolism_Homo sapiens_hsa005910.37208352
138Collecting duct acid secretion_Homo sapiens_hsa049660.37061301
139mTOR signaling pathway_Homo sapiens_hsa041500.34942611
140Tight junction_Homo sapiens_hsa045300.34342610
141Glycerolipid metabolism_Homo sapiens_hsa005610.31698546
142Oxidative phosphorylation_Homo sapiens_hsa001900.26877162
143Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.26825091
144Retinol metabolism_Homo sapiens_hsa008300.25678908
145Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.24400951
146Hippo signaling pathway_Homo sapiens_hsa043900.23533283
147Fat digestion and absorption_Homo sapiens_hsa049750.23326168
148Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.21509738
149Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.21465220
150Parkinsons disease_Homo sapiens_hsa050120.21321014
151Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.21255625
152Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.21021668
153Mineral absorption_Homo sapiens_hsa049780.20582514
154Viral carcinogenesis_Homo sapiens_hsa052030.20298870
155Pentose and glucuronate interconversions_Homo sapiens_hsa000400.20241121
156alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.19693736
157Longevity regulating pathway - mammal_Homo sapiens_hsa042110.16536992
158Hedgehog signaling pathway_Homo sapiens_hsa043400.16521170
159Protein export_Homo sapiens_hsa030600.14352394
160AMPK signaling pathway_Homo sapiens_hsa041520.13038237
161Endocytosis_Homo sapiens_hsa041440.11364373
162Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.11268207
163Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.10902903
164Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.09942184
165Butanoate metabolism_Homo sapiens_hsa006500.09228531
166HTLV-I infection_Homo sapiens_hsa051660.07990028
167Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.07741275
168FoxO signaling pathway_Homo sapiens_hsa040680.07636921
169Inositol phosphate metabolism_Homo sapiens_hsa005620.06104185
170Other glycan degradation_Homo sapiens_hsa005110.04890241
171Legionellosis_Homo sapiens_hsa051340.04244191
172Herpes simplex infection_Homo sapiens_hsa051680.03894907
173Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.02273944
174Prion diseases_Homo sapiens_hsa050200.02039976
175Ether lipid metabolism_Homo sapiens_hsa005650.00361312

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