BFSP2

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: More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)9.24123219
2central nervous system myelination (GO:0022010)9.24123219
3gonadal mesoderm development (GO:0007506)7.22189383
4myelination (GO:0042552)6.79239118
5axon ensheathment (GO:0008366)6.75434763
6ensheathment of neurons (GO:0007272)6.75434763
7activated T cell proliferation (GO:0050798)6.28127042
8fatty acid elongation (GO:0030497)6.19965991
9lens morphogenesis in camera-type eye (GO:0002089)5.84885438
10response to muscle activity (GO:0014850)5.37150588
11B cell receptor signaling pathway (GO:0050853)5.08628962
12regulation of collateral sprouting (GO:0048670)4.93874067
13substantia nigra development (GO:0021762)4.87657799
14long-chain fatty acid biosynthetic process (GO:0042759)4.86063166
15response to hepatocyte growth factor (GO:0035728)4.84758420
16cellular response to hepatocyte growth factor stimulus (GO:0035729)4.84758420
17adhesion of symbiont to host cell (GO:0044650)4.74702928
18virion attachment to host cell (GO:0019062)4.74702928
19cholesterol biosynthetic process (GO:0006695)4.72488956
20negative regulation of peptidyl-threonine phosphorylation (GO:0010801)4.71907807
21response to redox state (GO:0051775)4.69720585
22L-amino acid import (GO:0043092)4.68154079
23* visual perception (GO:0007601)4.64039361
24* sensory perception of light stimulus (GO:0050953)4.58907442
25peripheral nervous system axon ensheathment (GO:0032292)4.56955487
26myelination in peripheral nervous system (GO:0022011)4.56955487
27negative regulation of neurotransmitter secretion (GO:0046929)4.43805487
28camera-type eye development (GO:0043010)4.35496918
29amino acid import (GO:0043090)4.34755287
30regulation of B cell receptor signaling pathway (GO:0050855)4.32902803
31oligodendrocyte differentiation (GO:0048709)4.25047270
32protein refolding (GO:0042026)4.13915547
33positive regulation of B cell differentiation (GO:0045579)4.13304752
34cellular response to epinephrine stimulus (GO:0071872)4.11698222
35sterol biosynthetic process (GO:0016126)4.11246736
36glycerophospholipid catabolic process (GO:0046475)4.09441972
37myelin maintenance (GO:0043217)3.98738098
38B cell homeostasis (GO:0001782)3.89150093
39negative regulation of axon extension (GO:0030517)3.82406984
40regulation of platelet aggregation (GO:0090330)3.80931160
41creatine metabolic process (GO:0006600)3.80602941
42DNA strand elongation involved in DNA replication (GO:0006271)3.79819282
43response to methylmercury (GO:0051597)3.73952251
44regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.73547151
45cellular response to osmotic stress (GO:0071470)3.68169831
46DNA strand elongation (GO:0022616)3.68042371
47semaphorin-plexin signaling pathway (GO:0071526)3.65308301
48immunoglobulin mediated immune response (GO:0016064)3.60972248
49negative regulation of axonogenesis (GO:0050771)3.56532205
50transmission of nerve impulse (GO:0019226)3.52564063
51adhesion of symbiont to host (GO:0044406)3.51904107
52B cell proliferation (GO:0042100)3.49565554
53telomere maintenance via semi-conservative replication (GO:0032201)3.47797321
54asymmetric protein localization (GO:0008105)3.47478226
55Rap protein signal transduction (GO:0032486)3.46369603
56positive regulation of actin filament depolymerization (GO:0030836)3.43772480
57phosphatidylinositol 3-kinase signaling (GO:0014065)3.43342385
58positive regulation of protein homooligomerization (GO:0032464)3.42950758
59eye development (GO:0001654)3.41358128
60presynaptic membrane assembly (GO:0097105)3.40043393
61response to epinephrine (GO:0071871)3.38775327
62cytolysis (GO:0019835)3.34770422
63regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.34297833
64cerebellar granule cell differentiation (GO:0021707)3.31699157
65T cell migration (GO:0072678)3.29355602
66astrocyte development (GO:0014002)3.29134198
67neuron cell-cell adhesion (GO:0007158)3.27948143
68muscle cell cellular homeostasis (GO:0046716)3.27134273
69negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.24737844
70neuronal ion channel clustering (GO:0045161)3.23358091
71negative regulation of neurotransmitter transport (GO:0051589)3.22809579
72B cell mediated immunity (GO:0019724)3.22210693
73deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.21895169
74locomotory exploration behavior (GO:0035641)3.19607872
75peptidyl-tyrosine autophosphorylation (GO:0038083)3.18012836
76CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.17626806
77regulation of myoblast differentiation (GO:0045661)3.17175655
78telomere maintenance via recombination (GO:0000722)3.14040664
79positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.13701088
80positive regulation of oligodendrocyte differentiation (GO:0048714)3.13406391
81DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.11110412
82negative regulation of JUN kinase activity (GO:0043508)3.10896567
83cellular response to monoamine stimulus (GO:0071868)3.09991699
84cellular response to catecholamine stimulus (GO:0071870)3.09991699
85signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.09362271
86signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.09362271
87signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.09362271
88signal transduction involved in DNA integrity checkpoint (GO:0072401)3.09216255
89signal transduction involved in DNA damage checkpoint (GO:0072422)3.09216255
90amyloid precursor protein metabolic process (GO:0042982)3.09171001
91regulation of homotypic cell-cell adhesion (GO:0034110)3.08592386
92positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.07110451
93signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.06887233
94intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.06887233
95histone H3-K9 demethylation (GO:0033169)3.05835736
96regulation of B cell differentiation (GO:0045577)3.05024264
97DNA unwinding involved in DNA replication (GO:0006268)3.04495234
98positive regulation of neurological system process (GO:0031646)3.03576325
99regulation of B cell proliferation (GO:0030888)3.03374299
100signal transduction involved in cell cycle checkpoint (GO:0072395)3.02846384
101neural nucleus development (GO:0048857)3.02799621
102histone H4 deacetylation (GO:0070933)3.00645470
103positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.00243589
104regulation of myelination (GO:0031641)2.98732535
105isoprenoid biosynthetic process (GO:0008299)2.98508438
106positive regulation of catenin import into nucleus (GO:0035413)2.98075284
107membrane protein ectodomain proteolysis (GO:0006509)2.96724826
108amyloid precursor protein catabolic process (GO:0042987)2.94763090
109regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.93894022
110regulation of protein sumoylation (GO:0033233)2.91704284
111long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.91579048
112negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.90862001
113negative regulation of ligase activity (GO:0051352)2.90862001
114regulation of cellular amino acid metabolic process (GO:0006521)2.90067217
115import into cell (GO:0098657)2.87566224
116NIK/NF-kappaB signaling (GO:0038061)2.87332316
117negative regulation of B cell proliferation (GO:0030889)2.86292849
118anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.86210520
119proteasome assembly (GO:0043248)2.86198689
120antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.85677663
121presynaptic membrane organization (GO:0097090)2.85561333
122negative regulation of cellular response to insulin stimulus (GO:1900077)2.84854867
123cortical actin cytoskeleton organization (GO:0030866)2.84228202
124mitotic recombination (GO:0006312)2.83383633
125photoreceptor cell differentiation (GO:0046530)2.82891029
126eye photoreceptor cell differentiation (GO:0001754)2.82891029
127nucleotide transmembrane transport (GO:1901679)2.82859344
128positive regulation of B cell activation (GO:0050871)2.81763060
129positive regulation of gamma-delta T cell activation (GO:0046645)2.81178872
130antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.80220763
131deoxyribonucleotide biosynthetic process (GO:0009263)2.80021811
132myeloid dendritic cell activation (GO:0001773)2.77883411
133positive regulation of alpha-beta T cell proliferation (GO:0046641)2.77760020
134apical protein localization (GO:0045176)2.77606312
135regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.74428658
136positive regulation of interleukin-17 production (GO:0032740)2.74056098
137positive regulation of protein oligomerization (GO:0032461)2.73966451
138cellular response to interferon-beta (GO:0035458)2.73828492
139positive regulation of B cell proliferation (GO:0030890)2.72517599
140nucleosome assembly (GO:0006334)2.68874428
141long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.68116675
142antigen receptor-mediated signaling pathway (GO:0050851)2.67482284
143response to monoamine (GO:0071867)2.66319878
144response to catecholamine (GO:0071869)2.66319878
145DNA deamination (GO:0045006)2.66250943
146regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.66016734
147positive regulation of interleukin-4 production (GO:0032753)2.64283620
148negative regulation of insulin receptor signaling pathway (GO:0046627)2.63187223
149negative regulation of axon extension involved in axon guidance (GO:0048843)2.62593295
150pseudouridine synthesis (GO:0001522)2.61890751
151negative thymic T cell selection (GO:0045060)2.61822453
152antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.60855694
153bile acid and bile salt transport (GO:0015721)2.60376392
154nucleotide-excision repair, DNA gap filling (GO:0006297)2.60075223
155glial cell development (GO:0021782)2.59549788
156myeloid dendritic cell differentiation (GO:0043011)2.58723048
157viral mRNA export from host cell nucleus (GO:0046784)2.58352752
158cortical cytoskeleton organization (GO:0030865)2.57597849
159interferon-gamma-mediated signaling pathway (GO:0060333)2.56237444
160regulation of B cell apoptotic process (GO:0002902)2.55570072
161DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.55195158
162pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.54692090
163type I interferon signaling pathway (GO:0060337)2.54458350
164cellular response to type I interferon (GO:0071357)2.54458350
165protein-DNA complex assembly (GO:0065004)2.54180724
166positive regulation of immunoglobulin mediated immune response (GO:0002891)2.52815493
167positive regulation of B cell mediated immunity (GO:0002714)2.52815493
168T cell lineage commitment (GO:0002360)2.51577334
169negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 2.50951703
170mast cell activation (GO:0045576)2.50572153
171regulation of alpha-beta T cell proliferation (GO:0046640)2.50425125
172mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.50148534
173response to type I interferon (GO:0034340)2.48685087
174pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.48295874
175T cell costimulation (GO:0031295)2.48293231
176regulation of protein heterodimerization activity (GO:0043497)2.47562983
177cellular response to interleukin-15 (GO:0071350)2.46375618
178positive regulation of humoral immune response (GO:0002922)2.45817575
179positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.45491948
180telomere maintenance via telomere lengthening (GO:0010833)2.44806894
181lymphocyte costimulation (GO:0031294)2.44806682
182DNA replication initiation (GO:0006270)2.43805587
183positive regulation of isotype switching (GO:0045830)2.43427708
184regulation of B cell activation (GO:0050864)2.43042851
185DNA replication-dependent nucleosome organization (GO:0034723)2.42575268
186DNA replication-dependent nucleosome assembly (GO:0006335)2.42575268
187ribosomal small subunit biogenesis (GO:0042274)2.42481131
188signal transduction in response to DNA damage (GO:0042770)2.41655872
189regulation of cytokine secretion involved in immune response (GO:0002739)2.40814967
190formation of translation preinitiation complex (GO:0001731)2.40518978
191negative regulation of myeloid cell apoptotic process (GO:0033033)2.40171405
192lymphocyte homeostasis (GO:0002260)2.37579827
193negative T cell selection (GO:0043383)2.35740008
194positive regulation of ligase activity (GO:0051351)2.35062417
195positive regulation of interferon-alpha production (GO:0032727)2.34900107
196CENP-A containing nucleosome assembly (GO:0034080)2.34678386
197RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.33995669
198lens development in camera-type eye (GO:0002088)19.7454189
199* lens fiber cell development (GO:0070307)10.9649924
200lens fiber cell differentiation (GO:0070306)10.8180727

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.71786175
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse5.62158502
3BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse5.08946455
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat5.06242926
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.60404046
6E2F4_17652178_ChIP-ChIP_JURKAT_Human3.48380927
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.43256268
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.42618782
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.15524321
10ELF1_17652178_ChIP-ChIP_JURKAT_Human3.09495786
11* SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.03194332
12MYC_22102868_ChIP-Seq_BL_Human3.01495682
13SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.98048787
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.85067463
15EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.84936251
16VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.82614164
17CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.73655640
18JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.69021204
19CIITA_25753668_ChIP-Seq_RAJI_Human2.68966137
20MYC_18555785_ChIP-Seq_MESCs_Mouse2.66960116
21GABP_17652178_ChIP-ChIP_JURKAT_Human2.63575430
22EST1_17652178_ChIP-ChIP_JURKAT_Human2.57371780
23PCGF2_27294783_Chip-Seq_NPCs_Mouse2.51277051
24FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.48607420
25NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human2.47851984
26VDR_23849224_ChIP-Seq_CD4+_Human2.40709005
27HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.38270581
28ETS1_20019798_ChIP-Seq_JURKAT_Human2.33221426
29EZH2_22144423_ChIP-Seq_EOC_Human2.32925535
30CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.25952146
31FOXP3_21729870_ChIP-Seq_TREG_Human2.23903734
32MYC_18358816_ChIP-ChIP_MESCs_Mouse2.23689997
33HOXB4_20404135_ChIP-ChIP_EML_Mouse2.21909808
34NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.17841525
35MYC_19030024_ChIP-ChIP_MESCs_Mouse2.15043668
36SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.11994244
37SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.08221949
38WT1_19549856_ChIP-ChIP_CCG9911_Human2.05609683
39SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.03914488
40JARID2_20064375_ChIP-Seq_MESCs_Mouse2.03373644
41OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.02860156
42E2F1_21310950_ChIP-Seq_MCF-7_Human2.02014212
43AR_21572438_ChIP-Seq_LNCaP_Human2.01283492
44NELFA_20434984_ChIP-Seq_ESCs_Mouse2.00586723
45FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.99845571
46DCP1A_22483619_ChIP-Seq_HELA_Human1.95919216
47IRF8_21731497_ChIP-ChIP_J774_Mouse1.93552200
48FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.85071747
49E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.84078337
50EGR1_19032775_ChIP-ChIP_M12_Human1.82565029
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.82499137
52SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.82491441
53TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.79341879
54ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.75293920
55RNF2_18974828_ChIP-Seq_MESCs_Mouse1.74476331
56EZH2_18974828_ChIP-Seq_MESCs_Mouse1.74476331
57MYC_19079543_ChIP-ChIP_MESCs_Mouse1.73654378
58FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.72491924
59ERG_20887958_ChIP-Seq_HPC-7_Mouse1.71934090
60TAF15_26573619_Chip-Seq_HEK293_Human1.71248636
61MYB_26560356_Chip-Seq_TH2_Human1.70722568
62PADI4_21655091_ChIP-ChIP_MCF-7_Human1.69825103
63RUNX_20019798_ChIP-Seq_JUKART_Human1.69305561
64GABP_19822575_ChIP-Seq_HepG2_Human1.69271102
65EZH2_27294783_Chip-Seq_ESCs_Mouse1.68779351
66RNF2_27304074_Chip-Seq_ESCs_Mouse1.65646509
67MTF2_20144788_ChIP-Seq_MESCs_Mouse1.65582795
68THAP11_20581084_ChIP-Seq_MESCs_Mouse1.64591384
69EZH2_27304074_Chip-Seq_ESCs_Mouse1.62192252
70TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61068188
71DROSHA_22980978_ChIP-Seq_HELA_Human1.60218896
72E2F1_18555785_ChIP-Seq_MESCs_Mouse1.60076111
73HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.59999463
74CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.58180612
75HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.57955436
76FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.55704223
77PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.54994113
78SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.54634230
79STAT4_19710469_ChIP-ChIP_TH1__Mouse1.54591429
80NOTCH1_21737748_ChIP-Seq_TLL_Human1.54428727
81YY1_21170310_ChIP-Seq_MESCs_Mouse1.53983486
82* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.53553124
83XRN2_22483619_ChIP-Seq_HELA_Human1.52099549
84PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.50803073
85MYB_26560356_Chip-Seq_TH1_Human1.50335523
86ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.49685147
87PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.49340359
88PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.49268201
89EGR1_23403033_ChIP-Seq_LIVER_Mouse1.48908651
90EZH2_27294783_Chip-Seq_NPCs_Mouse1.48317834
91SRF_21415370_ChIP-Seq_HL-1_Mouse1.47826966
92SPI1_23547873_ChIP-Seq_NB4_Human1.47185785
93FUS_26573619_Chip-Seq_HEK293_Human1.43643448
94SMAD3_21741376_ChIP-Seq_EPCs_Human1.43600096
95POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.43406492
96ELK1_19687146_ChIP-ChIP_HELA_Human1.42575075
97RUNX1_27457419_Chip-Seq_LIVER_Mouse1.41239424
98* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.40517790
99SMAD1_18555785_Chip-Seq_ESCs_Mouse1.38133419
100IKZF1_21737484_ChIP-ChIP_HCT116_Human1.37416158
101P53_22127205_ChIP-Seq_FIBROBLAST_Human1.37052255
102MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.36734951
103SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.35471228
104CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.35442938
105SUZ12_27294783_Chip-Seq_ESCs_Mouse1.34686021
106FOXM1_23109430_ChIP-Seq_U2OS_Human1.34353520
107ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.34316297
108* KDM5A_27292631_Chip-Seq_BREAST_Human1.33261633
109CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.32701475
110CDX2_19796622_ChIP-Seq_MESCs_Mouse1.31896608
111IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.31851995
112EED_16625203_ChIP-ChIP_MESCs_Mouse1.31729328
113DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.31102542
114MAF_26560356_Chip-Seq_TH1_Human1.30674689
115MYCN_18555785_ChIP-Seq_MESCs_Mouse1.28969512
116PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28033229
117ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.27886780
118ZFX_18555785_ChIP-Seq_MESCs_Mouse1.27685966
119MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.27523638
120IRF1_19129219_ChIP-ChIP_H3396_Human1.26378048
121VDR_21846776_ChIP-Seq_THP-1_Human1.24832443
122CTCF_18555785_Chip-Seq_ESCs_Mouse1.24149602
123MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.23978509
124GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.23729883
125YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.23582019
126NFE2_27457419_Chip-Seq_LIVER_Mouse1.22794478
127CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.21790967
128* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.21433748
129HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.20404247
130BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.19801102
131EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.19466316
132SUZ12_27294783_Chip-Seq_NPCs_Mouse1.19145451
133MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.18732125
134EP300_21415370_ChIP-Seq_HL-1_Mouse1.18107290
135WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.18004500
136TTF2_22483619_ChIP-Seq_HELA_Human1.17992081
137P300_18555785_Chip-Seq_ESCs_Mouse1.17807654
138SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.17175220
139NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.15005061
140POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.13802750
141RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.13351191
142NANOG_18555785_ChIP-Seq_MESCs_Mouse1.13281172
143CTBP1_25329375_ChIP-Seq_LNCAP_Human1.13270370
144REST_18959480_ChIP-ChIP_MESCs_Mouse1.12776483
145UTX_26944678_Chip-Seq_JUKART_Human1.10697276
146CMYC_18555785_Chip-Seq_ESCs_Mouse1.10166421
147TFEB_21752829_ChIP-Seq_HELA_Human1.08899008
148EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.08630565
149* SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.08299838
150JARID2_20075857_ChIP-Seq_MESCs_Mouse1.08146934
151P53_22387025_ChIP-Seq_ESCs_Mouse1.07629146
152* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.06084051
153EGR1_19374776_ChIP-ChIP_THP-1_Human1.05660544
154TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05563470
155NR3C1_23031785_ChIP-Seq_PC12_Mouse1.05518587
156CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.05402448
157E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.05359576
158MAF_26560356_Chip-Seq_TH2_Human1.04101349
159GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.03019715
160RBPJ_22232070_ChIP-Seq_NCS_Mouse1.03014039
161FOXA2_19822575_ChIP-Seq_HepG2_Human1.02937802
162TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02647043
163* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.02196120
164PU1_27457419_Chip-Seq_LIVER_Mouse1.01783265
165KLF4_18555785_Chip-Seq_ESCs_Mouse1.01760627
166GATA3_27048872_Chip-Seq_THYMUS_Human1.01470450
167PU.1_20513432_ChIP-Seq_Bcells_Mouse1.00784963
168DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.00210634
169SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.99643943
170VDR_24787735_ChIP-Seq_THP-1_Human0.99061942
171PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.98487122
172CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.97267046
173ER_23166858_ChIP-Seq_MCF-7_Human0.96973836
174MYC_18940864_ChIP-ChIP_HL60_Human0.96969228
175HTT_18923047_ChIP-ChIP_STHdh_Human0.96170108
176GATA2_21666600_ChIP-Seq_HMVEC_Human0.95319053
177SOX2_21211035_ChIP-Seq_LN229_Gbm0.94863939
178GATA1_19941827_ChIP-Seq_MEL86_Mouse0.94650425
179CRX_20693478_ChIP-Seq_RETINA_Mouse0.94580603
180WT1_25993318_ChIP-Seq_PODOCYTE_Human0.92432888
181NANOG_16153702_ChIP-ChIP_HESCs_Human0.92154467
182RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.91715356
183* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.91715121
184CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.90675440
185RARB_27405468_Chip-Seq_BRAIN_Mouse0.90516578
186RING1B_27294783_Chip-Seq_NPCs_Mouse0.89900786
187SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.89655806
188HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.89227215
189* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.89198326
190SMAD3_21741376_ChIP-Seq_ESCs_Human0.88633955
191SOX2_16153702_ChIP-ChIP_HESCs_Human0.86086148
192ZFX_18555785_Chip-Seq_ESCs_Mouse0.85023867
193RING1B_27294783_Chip-Seq_ESCs_Mouse0.84577037
194SOX2_18555785_Chip-Seq_ESCs_Mouse0.84285255
195ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.83813582

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005193_abnormal_anterior_eye6.28632234
2MP0000920_abnormal_myelination4.53663970
3MP0000685_abnormal_immune_system4.00428062
4MP0005671_abnormal_response_to3.79641818
5MP0001835_abnormal_antigen_presentation3.72522467
6MP0010094_abnormal_chromosome_stability3.26668424
7MP0003763_abnormal_thymus_physiology3.17148514
8* MP0005253_abnormal_eye_physiology3.03394202
9MP0002092_abnormal_eye_morphology3.01865531
10MP0003690_abnormal_glial_cell2.86909513
11MP0005171_absent_coat_pigmentation2.83840736
12MP0005000_abnormal_immune_tolerance2.78495706
13MP0003693_abnormal_embryo_hatching2.70139620
14MP0001905_abnormal_dopamine_level2.62557212
15MP0001286_abnormal_eye_development2.60044454
16MP0000749_muscle_degeneration2.52344014
17MP0005197_abnormal_uvea_morphology2.44602391
18MP0004742_abnormal_vestibular_system2.39953811
19MP0003077_abnormal_cell_cycle2.39129044
20MP0005075_abnormal_melanosome_morpholog2.37618137
21MP0004885_abnormal_endolymph2.37196756
22MP0003880_abnormal_central_pattern2.35268884
23MP0002398_abnormal_bone_marrow2.30212810
24MP0004134_abnormal_chest_morphology2.23652115
25MP0005645_abnormal_hypothalamus_physiol2.23487654
26MP0002420_abnormal_adaptive_immunity2.21040454
27MP0003303_peritoneal_inflammation2.19720517
28* MP0005391_vision/eye_phenotype2.16786181
29MP0001819_abnormal_immune_cell2.15684159
30MP0001529_abnormal_vocalization2.12404285
31MP0001346_abnormal_lacrimal_gland2.04447622
32MP0003111_abnormal_nucleus_morphology2.04048025
33MP0000689_abnormal_spleen_morphology2.02504819
34MP0000716_abnormal_immune_system2.01940742
35MP0002697_abnormal_eye_size10.0003229
36MP0004957_abnormal_blastocyst_morpholog1.97057877
37MP0009333_abnormal_splenocyte_physiolog1.95805281
38MP0003634_abnormal_glial_cell1.92004342
39MP0008058_abnormal_DNA_repair1.89987225
40MP0000778_abnormal_nervous_system1.84902441
41MP0001873_stomach_inflammation1.83225176
42MP0005310_abnormal_salivary_gland1.81086422
43MP0001986_abnormal_taste_sensitivity1.77433504
44MP0001661_extended_life_span1.77331102
45MP0002722_abnormal_immune_system1.76163970
46MP0002429_abnormal_blood_cell1.72927638
47MP0001485_abnormal_pinna_reflex1.72785770
48MP0002166_altered_tumor_susceptibility1.61789992
49MP0005025_abnormal_response_to1.61189929
50MP0002272_abnormal_nervous_system1.60494837
51MP0002148_abnormal_hypersensitivity_rea1.60231855
52MP0005623_abnormal_meninges_morphology1.57476777
53MP0004381_abnormal_hair_follicle1.57292020
54MP0003136_yellow_coat_color1.56185740
55MP0001486_abnormal_startle_reflex1.52172368
56MP0003329_amyloid_beta_deposits1.51648654
57MP0000703_abnormal_thymus_morphology1.51640771
58MP0000462_abnormal_digestive_system1.51161156
59MP0009785_altered_susceptibility_to1.49409677
60MP0002138_abnormal_hepatobiliary_system1.46606279
61MP0002396_abnormal_hematopoietic_system1.46444685
62MP0005499_abnormal_olfactory_system1.46115131
63MP0005394_taste/olfaction_phenotype1.46115131
64MP0002064_seizures1.42594104
65MP0002102_abnormal_ear_morphology1.39937825
66MP0002108_abnormal_muscle_morphology1.39754753
67MP0004270_analgesia1.39429923
68MP0001845_abnormal_inflammatory_respons1.39022974
69MP0010155_abnormal_intestine_physiology1.36359294
70MP0005195_abnormal_posterior_eye1.34750137
71MP0001299_abnormal_eye_distance/1.33998571
72MP0002405_respiratory_system_inflammati1.31974251
73MP0002019_abnormal_tumor_incidence1.30502292
74MP0005409_darkened_coat_color1.30045201
75MP0005551_abnormal_eye_electrophysiolog1.29751930
76MP0002163_abnormal_gland_morphology1.29105343
77MP0009840_abnormal_foam_cell1.26653823
78MP0008789_abnormal_olfactory_epithelium1.25019993
79MP0002006_tumorigenesis1.23259377
80MP0006036_abnormal_mitochondrial_physio1.21546785
81MP0005408_hypopigmentation1.17891246
82MP0000350_abnormal_cell_proliferation1.17851036
83MP0003632_abnormal_nervous_system1.17709052
84MP0000313_abnormal_cell_death1.17269179
85MP0005464_abnormal_platelet_physiology1.17260528
86MP0008007_abnormal_cellular_replicative1.14705326
87MP0002229_neurodegeneration1.14596287
88MP0000372_irregular_coat_pigmentation1.14441365
89MP0001764_abnormal_homeostasis1.14202313
90MP0002419_abnormal_innate_immunity1.08411344
91MP0006035_abnormal_mitochondrial_morpho1.08318254
92MP0000955_abnormal_spinal_cord1.07452409
93MP0002882_abnormal_neuron_morphology1.05683466
94MP0004142_abnormal_muscle_tone1.05444770
95MP0002734_abnormal_mechanical_nocicepti1.05280844
96MP0002095_abnormal_skin_pigmentation1.05164655
97MP0008877_abnormal_DNA_methylation1.03640233
98MP0004272_abnormal_basement_membrane1.03537719
99MP0010678_abnormal_skin_adnexa1.03394832
100MP0003172_abnormal_lysosome_physiology1.02350387
101MP0000490_abnormal_crypts_of1.01628561
102MP0002254_reproductive_system_inflammat1.00624041
103MP0001853_heart_inflammation0.99286728
104MP0000747_muscle_weakness0.99105392
105MP0001348_abnormal_lacrimal_gland0.98658470
106MP0000383_abnormal_hair_follicle0.97719318
107MP0003436_decreased_susceptibility_to0.97254365
108MP0003866_abnormal_defecation0.97107427
109MP0004859_abnormal_synaptic_plasticity0.96478915
110MP0001730_embryonic_growth_arrest0.94751290
111MP0004147_increased_porphyrin_level0.94132358
112MP0003786_premature_aging0.93210466
113MP0008932_abnormal_embryonic_tissue0.92683345
114MP0003191_abnormal_cellular_cholesterol0.91401442
115MP0009745_abnormal_behavioral_response0.90770687
116MP0002066_abnormal_motor_capabilities/c0.89556228
117MP0001800_abnormal_humoral_immune0.89384989
118MP0004264_abnormal_extraembryonic_tissu0.89370290
119MP0005330_cardiomyopathy0.87859885
120MP0008995_early_reproductive_senescence0.87758609
121MP0003635_abnormal_synaptic_transmissio0.87424252
122MP0000467_abnormal_esophagus_morphology0.86603900
123MP0005379_endocrine/exocrine_gland_phen0.83877125
124MP0001340_abnormal_eyelid_morphology0.83409369
125MP0005410_abnormal_fertilization0.82907712
126MP0008469_abnormal_protein_level0.81821351
127MP0001440_abnormal_grooming_behavior0.81197771
128MP0002653_abnormal_ependyma_morphology0.80880554
129MP0002752_abnormal_somatic_nervous0.80603608
130MP0004185_abnormal_adipocyte_glucose0.80599637
131MP0002269_muscular_atrophy0.79870580
132MP0002152_abnormal_brain_morphology0.78603653
133MP0001919_abnormal_reproductive_system0.77358717
134MP0004145_abnormal_muscle_electrophysio0.75958879
135MP0000609_abnormal_liver_physiology0.75393797
136MP0005257_abnormal_intraocular_pressure0.74615097
137MP0009046_muscle_twitch0.73976659
138MP0000604_amyloidosis0.72268843
139MP0003221_abnormal_cardiomyocyte_apopto0.71557136
140MP0008961_abnormal_basal_metabolism0.70908449
141MP0002572_abnormal_emotion/affect_behav0.69935559
142MP0002067_abnormal_sensory_capabilities0.69167456
143MP0010234_abnormal_vibrissa_follicle0.68729707
144MP0003787_abnormal_imprinting0.68311775
145MP0001727_abnormal_embryo_implantation0.68049295
146MP0003938_abnormal_ear_development0.67365848
147MP0008057_abnormal_DNA_replication0.66394489
148MP0008569_lethality_at_weaning0.66151544
149MP0002928_abnormal_bile_duct0.65615793
150MP0001963_abnormal_hearing_physiology0.65221321
151MP0000647_abnormal_sebaceous_gland0.62951934
152MP0002735_abnormal_chemical_nociception0.62811653
153MP0001270_distended_abdomen0.62380516
154MP0008260_abnormal_autophagy0.62313332
155MP0005220_abnormal_exocrine_pancreas0.61201929
156MP0000371_diluted_coat_color0.60923382
157MP0002933_joint_inflammation0.60923205
158MP0003252_abnormal_bile_duct0.60566312
159MP0002063_abnormal_learning/memory/cond0.60294220
160MP0005451_abnormal_body_composition0.59799967
161MP0002080_prenatal_lethality0.59709678
162MP0002736_abnormal_nociception_after0.59146187
163MP0000358_abnormal_cell_content/0.58784603
164MP0002139_abnormal_hepatobiliary_system0.58503796
165MP0005621_abnormal_cell_physiology0.58351449
166MP0001697_abnormal_embryo_size0.58191771
167MP0004924_abnormal_behavior0.58008030
168MP0005386_behavior/neurological_phenoty0.58008030
169MP0002083_premature_death0.57774989
170MP0002210_abnormal_sex_determination0.57747776
171MP0003868_abnormal_feces_composition0.56839339
172MP0001790_abnormal_immune_system0.56747737
173MP0005387_immune_system_phenotype0.56747737
174MP0001968_abnormal_touch/_nociception0.53742729
175MP0005369_muscle_phenotype0.53499521
176MP0002733_abnormal_thermal_nociception0.53145736
177MP0000465_gastrointestinal_hemorrhage0.52605435
178MP0003937_abnormal_limbs/digits/tail_de0.52456630
179MP0003861_abnormal_nervous_system0.52193460
180MP0001970_abnormal_pain_threshold0.52187535
181MP0002452_abnormal_antigen_presenting0.50756205
182MP0003631_nervous_system_phenotype0.49182764
183MP0002723_abnormal_immune_serum0.48999632
184MP0009250_abnormal_appendicular_skeleto0.48306457
185MP0002938_white_spotting0.47878939
186MP0009278_abnormal_bone_marrow0.47306639
187MP0001943_abnormal_respiration0.46948367

Predicted human phenotypes

RankGene SetZ-score
1* Congenital cataract (HP:0000519)6.41821914
2Corneal dystrophy (HP:0001131)6.25870376
3Amblyopia (HP:0000646)5.98239457
4IgM deficiency (HP:0002850)5.66972171
5Recurrent sinusitis (HP:0011108)5.35165173
6Anterior segment dysgenesis (HP:0007700)5.15671934
7Recurrent bronchitis (HP:0002837)4.83461487
8IgA deficiency (HP:0002720)4.50758170
9Clumsiness (HP:0002312)4.32205089
10Lymphopenia (HP:0001888)4.28762599
11Abnormality of cells of the lymphoid lineage (HP:0012140)4.02216412
12Meningitis (HP:0001287)3.98207613
13Colitis (HP:0002583)3.84037980
14Panhypogammaglobulinemia (HP:0003139)3.81425309
15IgG deficiency (HP:0004315)3.64734702
16Polar cataract (HP:0010696)3.62154949
17Sensory axonal neuropathy (HP:0003390)3.48425150
18Eosinophilia (HP:0001880)3.47968705
19Recurrent viral infections (HP:0004429)3.47823492
20Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.25564969
21Degeneration of the lateral corticospinal tracts (HP:0002314)3.25564969
22Recurrent pneumonia (HP:0006532)3.23980327
23Akinesia (HP:0002304)3.23737818
24Vasculitis (HP:0002633)3.23168670
25Microcornea (HP:0000482)3.22259339
26Abnormality of T cell physiology (HP:0011840)3.21863523
27Abnormal delayed hypersensitivity skin test (HP:0002963)3.17011606
28Recurrent lower respiratory tract infections (HP:0002783)3.09709152
29Mediastinal lymphadenopathy (HP:0100721)3.07270227
30Emphysema (HP:0002097)3.06053847
31Lymphoma (HP:0002665)3.05596729
32Inflammation of the large intestine (HP:0002037)3.04460015
33Skin rash (HP:0000988)3.04375642
34Abnormality of the prostate (HP:0008775)3.00371494
35Nuclear cataract (HP:0100018)23.7164097
36Zonular cataract (HP:0010920)21.0257705
37Autoimmune hemolytic anemia (HP:0001890)2.96589201
38Squamous cell carcinoma (HP:0002860)2.94297146
39Gastrointestinal inflammation (HP:0004386)2.93839077
40Osteomyelitis (HP:0002754)2.87939116
41Chronic diarrhea (HP:0002028)2.87097411
42Iris coloboma (HP:0000612)2.81335424
43Cerebral hypomyelination (HP:0006808)2.79314424
44Bronchitis (HP:0012387)2.78573048
45Hepatocellular necrosis (HP:0001404)2.68653050
46Granulocytopenia (HP:0001913)2.66148065
47Hepatic necrosis (HP:0002605)2.65180787
48Abnormality of T cells (HP:0002843)2.57854574
49Abnormality of eosinophils (HP:0001879)2.55153559
50Restrictive lung disease (HP:0002091)2.50455763
51Chronic mucocutaneous candidiasis (HP:0002728)2.46903530
52Recurrent cutaneous fungal infections (HP:0011370)2.46903530
53Neutropenia (HP:0001875)2.46480096
54Scapular winging (HP:0003691)2.44441696
55Recurrent otitis media (HP:0000403)2.43862269
56Small epiphyses (HP:0010585)2.42522409
57Increased CSF lactate (HP:0002490)2.41532150
58Viral hepatitis (HP:0006562)2.41377776
59Basal cell carcinoma (HP:0002671)2.39086362
60Chronic otitis media (HP:0000389)2.36782232
61Abnormality of the corticospinal tract (HP:0002492)2.35925122
62Mitochondrial inheritance (HP:0001427)2.34718574
63Microvesicular hepatic steatosis (HP:0001414)2.33806711
64Poikiloderma (HP:0001029)2.33327494
65Leukopenia (HP:0001882)2.32557652
66Fetal akinesia sequence (HP:0001989)2.30678534
67Increased IgM level (HP:0003496)2.30154391
68Opacification of the corneal stroma (HP:0007759)2.27612895
69Hyperammonemia (HP:0001987)2.23974650
70Acute encephalopathy (HP:0006846)2.22565740
71Neurofibrillary tangles (HP:0002185)2.20929002
72Acute necrotizing encephalopathy (HP:0006965)2.18227859
73Sclerocornea (HP:0000647)2.17887246
74Increased serum lactate (HP:0002151)2.14654160
75Abnormal mitochondria in muscle tissue (HP:0008316)2.12463158
76Congenital primary aphakia (HP:0007707)2.11695274
77Encephalitis (HP:0002383)2.11220298
78Abnormality of the anterior chamber (HP:0000593)2.10995406
79Villous atrophy (HP:0011473)2.10966969
80Abnormality of small intestinal villus morphology (HP:0011472)2.10966969
81Abnormality of male internal genitalia (HP:0000022)2.08283558
82Peripheral hypomyelination (HP:0007182)2.08212490
83Urticaria (HP:0001025)2.07412643
84Chronic sinusitis (HP:0011109)2.05138077
85Microretrognathia (HP:0000308)2.03829811
86Sepsis (HP:0100806)2.03768301
87Parakeratosis (HP:0001036)2.02659401
88Lactic acidosis (HP:0003128)1.98093237
89Recurrent fungal infections (HP:0002841)1.96635289
90Agammaglobulinemia (HP:0004432)1.95867684
91Neoplasm of the adrenal gland (HP:0100631)1.95486346
92Lipid accumulation in hepatocytes (HP:0006561)1.95021419
93Abnormality of dicarboxylic acid metabolism (HP:0010995)1.93132440
94Dicarboxylic aciduria (HP:0003215)1.93132440
95Hypoplastic pelvis (HP:0008839)1.91739322
96Hepatitis (HP:0012115)1.91506718
97Severe global developmental delay (HP:0011344)1.90352057
98Spastic gait (HP:0002064)1.90277269
99Multiple enchondromatosis (HP:0005701)1.88558195
100Increased hepatocellular lipid droplets (HP:0006565)1.88439666
101Progressive macrocephaly (HP:0004481)1.87523203
102Obstructive lung disease (HP:0006536)1.87196572
103Chronic obstructive pulmonary disease (HP:0006510)1.87196572
104Chromsome breakage (HP:0040012)1.86541608
105Chromosomal breakage induced by crosslinking agents (HP:0003221)1.85957136
106Acute hepatic failure (HP:0006554)1.85216940
107Elevated hepatic transaminases (HP:0002910)1.84152895
108Intention tremor (HP:0002080)1.83227200
109Recurrent abscess formation (HP:0002722)1.81294590
110Medulloblastoma (HP:0002885)1.79654141
111Gout (HP:0001997)1.78307883
112Increased intramyocellular lipid droplets (HP:0012240)1.77423142
113Vertebral clefting (HP:0008428)1.76911883
114Erythema (HP:0010783)1.74858675
115Spastic paraparesis (HP:0002313)1.74447514
116Cerebral edema (HP:0002181)1.74056268
117Respiratory difficulties (HP:0002880)1.72367381
118Gastrointestinal stroma tumor (HP:0100723)1.68289604
119Alacrima (HP:0000522)1.67221886
120Abnormality of the preputium (HP:0100587)1.67085875
121Pulmonary fibrosis (HP:0002206)1.66307535
122Dry hair (HP:0011359)1.66264932
123Recurrent bacterial skin infections (HP:0005406)1.66088970
124Spontaneous abortion (HP:0005268)1.65773141
125Cleft eyelid (HP:0000625)1.65047605
126Aplasia/Hypoplasia of the lens (HP:0008063)1.64942861
127Leukocytosis (HP:0001974)1.64684617
128Joint swelling (HP:0001386)1.63575192
129Hyperglycinuria (HP:0003108)1.61947302
130Aplasia/Hypoplasia affecting the retina (HP:0008061)1.57045718
131Aplasia/Hypoplasia of the macula (HP:0008059)1.56584542
132Cerebral inclusion bodies (HP:0100314)1.56300220
133Diminished movement (HP:0002374)1.55770843
134Abnormal auditory evoked potentials (HP:0006958)1.55563762
135Premature skin wrinkling (HP:0100678)1.55371539
136Hypoplastic nipples (HP:0002557)1.54999863
137Supranuclear gaze palsy (HP:0000605)1.54955323
138Aplasia of the musculature (HP:0100854)1.54862827
139Proximal amyotrophy (HP:0007126)1.54625387
140Morphological abnormality of the inner ear (HP:0011390)1.53072435
141Cellulitis (HP:0100658)1.51434500
142CNS hypomyelination (HP:0003429)1.49720270
143Adrenal hypoplasia (HP:0000835)1.48714822
144Abnormality of placental membranes (HP:0011409)1.47533377
145Amniotic constriction ring (HP:0009775)1.47533377
146Leukodystrophy (HP:0002415)1.46769257
147Aplasia/Hypoplasia involving the musculature (HP:0001460)1.44247405
148Abnormality of the shoulder girdle musculature (HP:0001435)1.43784740
149Slow saccadic eye movements (HP:0000514)1.42566158
150Onion bulb formation (HP:0003383)1.38123008
151Atonic seizures (HP:0010819)1.36299084
152Dysmetria (HP:0001310)1.34103488
153Difficulty walking (HP:0002355)1.33140783
154Neonatal respiratory distress (HP:0002643)1.32864037
155Barrel-shaped chest (HP:0001552)1.32705529
156Thyroiditis (HP:0100646)1.32673486
157Decreased lacrimation (HP:0000633)1.32318243
158Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.31478193
159White forelock (HP:0002211)1.25365266
160Retinal dysplasia (HP:0007973)1.23377971
161Abnormality of the parathyroid morphology (HP:0011766)1.23041758
162Verrucae (HP:0200043)1.21152427
163Papilloma (HP:0012740)1.21152427
164Paraparesis (HP:0002385)1.20501808
165Scanning speech (HP:0002168)1.17981946
166Hypoplasia of the capital femoral epiphysis (HP:0003090)1.16568894
167Hemorrhage of the eye (HP:0011885)1.15639699
168Termporal pattern (HP:0011008)1.14902180
169Insidious onset (HP:0003587)1.14902180
170Long clavicles (HP:0000890)1.14855822
171Epiphyseal dysplasia (HP:0002656)1.12088107
172Bowel incontinence (HP:0002607)1.11975367
173Stridor (HP:0010307)1.10398806
174Patchy hypopigmentation of hair (HP:0011365)1.10352768
175Abnormality of glycolysis (HP:0004366)1.07512273
176Increased serum pyruvate (HP:0003542)1.07512273
177Cerebral hemorrhage (HP:0001342)1.06213732
178Aplasia/Hypoplasia of the nipples (HP:0006709)1.04211941
179Posterior subcapsular cataract (HP:0007787)1.04028938
180Abnormal large intestine physiology (HP:0012700)1.03179286
181Poor speech (HP:0002465)1.03113810
182Symphalangism affecting the phalanges of the hand (HP:0009773)1.02952629
183B lymphocytopenia (HP:0010976)1.00989676
184Abnormality of B cell number (HP:0010975)1.00989676
185Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.00104966
186Absent epiphyses (HP:0010577)1.00104966
187Chin dimple (HP:0010751)0.97566791
188Popliteal pterygium (HP:0009756)0.96099791
189Type II lissencephaly (HP:0007260)0.95021371
190Ankle clonus (HP:0011448)0.94213141

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK396.23938119
2TNIK5.47667218
3ZAK4.02575279
4EPHB13.30865792
5EIF2AK33.27817412
6OXSR13.10539057
7TYRO33.04439174
8FES3.02145315
9ICK2.99647577
10SCYL22.96019155
11MST42.68190943
12VRK12.61319658
13PKN12.54558152
14BCR2.45034070
15RIPK42.44777242
16MET2.44622422
17WNK42.42668731
18TLK12.27979493
19UHMK12.17286819
20MAP2K62.04558617
21ERN12.01221015
22NME22.00627203
23CLK11.99836973
24BMPR21.99673196
25CDC71.97440829
26SMG11.91089773
27TESK21.84917614
28BLK1.79019898
29BUB11.76544537
30PRPF4B1.73703003
31CSNK1G31.66052590
32MAPK131.62285240
33ROCK21.57461559
34EIF2AK11.50176008
35FGFR21.49926472
36VRK21.49541513
37NTRK11.48965391
38CSNK1A1L1.46321494
39PDK21.45712740
40PRKCQ1.43117771
41CSF1R1.35189088
42MAP3K141.33081649
43RPS6KA51.32816910
44NEK61.32275594
45IRAK21.29976124
46GRK61.29261471
47WNK11.28273176
48PASK1.26839744
49FGR1.25613657
50IKBKB1.24955457
51SGK11.23962583
52SRPK11.22739649
53TYK21.19942511
54CSNK1G11.19150781
55MAPKAPK51.17317863
56DAPK31.13535796
57MAP3K91.12713998
58CDK191.12558825
59MATK1.11966921
60KIT1.11904404
61TBK11.11232971
62TEC1.09742367
63BCKDK1.08717924
64CDK41.07965805
65CSNK1G21.07726870
66IRAK41.06543230
67JAK31.05417205
68PNCK1.04423697
69ATR1.01061743
70IRAK10.97427380
71AURKA0.97182612
72STK240.96805624
73INSR0.96348609
74MAP4K10.96286976
75BRAF0.95022404
76CDK80.93946049
77MAPK110.92956698
78PRKG10.92595857
79CSK0.92398246
80TTK0.90812717
81PAK60.90233288
82TAOK30.87115341
83DAPK10.84207693
84MAP3K130.82764863
85DYRK20.82310639
86CHEK20.81859716
87CDK140.81197839
88TAF10.80013423
89PDGFRB0.78404639
90TXK0.76907632
91CCNB10.76446019
92BTK0.74695175
93SGK2230.73414401
94SGK4940.73414401
95LRRK20.71878109
96STK100.71557734
97PBK0.71014665
98FYN0.69760090
99PRKCH0.69297232
100ROCK10.67391189
101NEK90.66731430
102BMPR1B0.66618272
103PAK30.66116120
104MAP4K20.66097751
105CDK150.64979746
106JAK10.63540353
107LYN0.62975727
108MAP3K100.62867157
109CDK11A0.62022818
110CDK180.60742301
111AURKB0.59108142
112LIMK10.57242417
113MAPKAPK30.56539909
114NEK10.55449638
115PIM10.55433932
116CDK70.54946527
117SIK10.54178652
118EIF2AK20.52816358
119PRKCB0.50157740
120LCK0.50078093
121SIK30.49826696
122CHEK10.49014933
123SYK0.48625657
124BMX0.48366230
125NME10.48066807
126MAPK100.45451361
127RPS6KA40.44087605
128CHUK0.43801685
129PRKACB0.42354793
130KDR0.42223678
131PRKCI0.40717284
132PIM20.40449742
133TRIM280.40000331
134CDK90.39814761
135CDK50.39719470
136CAMK2D0.38705222
137MAPK70.37983725
138IGF1R0.37864790
139ITK0.36910600
140MARK20.36608060
141CSNK1D0.36132491
142CSNK2A10.35508448
143AKT20.35126771
144EPHA40.34598287
145BRSK10.33088567
146CSNK2A20.32901089
147JAK20.32678769
148FGFR40.32265640
149CAMK2B0.32181701
150MAP2K20.32029683
151HIPK20.29926798
152WEE10.29698873
153RPS6KB20.29328457
154STK40.28615779
155ARAF0.28614933
156PLK40.28574193
157PRKD10.28556062
158NLK0.28472043
159MKNK10.28435689
160RPS6KA30.28004336
161MELK0.27173770
162SRC0.27134328
163PTK20.26896840
164IKBKE0.23979699
165MAP3K80.22805605
166PDPK10.22364010
167PAK10.21964366
168STK160.21089090
169PDK10.20399754
170TNK20.20255706
171KSR20.20249272
172PRKCE0.19454085
173MARK30.19134508
174PHKG10.18920558
175PHKG20.18920558

Predicted pathways (KEGG)

RankGene SetZ-score
1Terpenoid backbone biosynthesis_Homo sapiens_hsa009006.16472732
2Steroid biosynthesis_Homo sapiens_hsa001004.93947853
3Systemic lupus erythematosus_Homo sapiens_hsa053224.16627632
4Intestinal immune network for IgA production_Homo sapiens_hsa046724.05972853
5Fatty acid elongation_Homo sapiens_hsa000623.56180207
6Ether lipid metabolism_Homo sapiens_hsa005653.48108869
7Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.34871081
8Allograft rejection_Homo sapiens_hsa053303.34678500
9Autoimmune thyroid disease_Homo sapiens_hsa053203.20054356
10Asthma_Homo sapiens_hsa053103.15237353
11DNA replication_Homo sapiens_hsa030303.09322941
12Primary immunodeficiency_Homo sapiens_hsa053402.82124098
13Graft-versus-host disease_Homo sapiens_hsa053322.81088088
14Axon guidance_Homo sapiens_hsa043602.66107772
15Type I diabetes mellitus_Homo sapiens_hsa049402.50381312
16B cell receptor signaling pathway_Homo sapiens_hsa046622.49428879
17Base excision repair_Homo sapiens_hsa034102.34953764
18Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.22136806
19Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.17454983
20Mismatch repair_Homo sapiens_hsa034302.05477426
21Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.91540558
22Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.87979906
23Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.83423405
24Oxidative phosphorylation_Homo sapiens_hsa001901.81435861
25Homologous recombination_Homo sapiens_hsa034401.71934210
26Renal cell carcinoma_Homo sapiens_hsa052111.67094277
27Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.66945634
28Antigen processing and presentation_Homo sapiens_hsa046121.65021835
29Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.64739731
30Sulfur metabolism_Homo sapiens_hsa009201.63175517
31Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.56691233
32Spliceosome_Homo sapiens_hsa030401.43822999
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.40578703
34Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.39365023
35Alzheimers disease_Homo sapiens_hsa050101.37338165
36Epstein-Barr virus infection_Homo sapiens_hsa051691.36079215
37Vitamin B6 metabolism_Homo sapiens_hsa007501.35997579
38Viral carcinogenesis_Homo sapiens_hsa052031.35514498
39Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.33672689
40Phospholipase D signaling pathway_Homo sapiens_hsa040721.31221228
41Herpes simplex infection_Homo sapiens_hsa051681.27113308
42Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.24951378
43Sphingolipid metabolism_Homo sapiens_hsa006001.22970899
44Nucleotide excision repair_Homo sapiens_hsa034201.20147504
45Protein export_Homo sapiens_hsa030601.18507570
46Leishmaniasis_Homo sapiens_hsa051401.18145083
47Parkinsons disease_Homo sapiens_hsa050121.17522699
48RNA degradation_Homo sapiens_hsa030181.15829453
49Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.13626863
50Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.12159618
51NF-kappa B signaling pathway_Homo sapiens_hsa040641.11378127
52Long-term depression_Homo sapiens_hsa047301.09815293
53Glutamatergic synapse_Homo sapiens_hsa047241.06849283
54Endocytosis_Homo sapiens_hsa041441.06510397
55Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.05190964
56Shigellosis_Homo sapiens_hsa051311.04958795
57Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.04643321
58Linoleic acid metabolism_Homo sapiens_hsa005911.03060459
59Pyrimidine metabolism_Homo sapiens_hsa002401.03022963
60Sphingolipid signaling pathway_Homo sapiens_hsa040711.02832921
61Fanconi anemia pathway_Homo sapiens_hsa034601.02457915
62alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.01424254
63Staphylococcus aureus infection_Homo sapiens_hsa051501.01217606
64Serotonergic synapse_Homo sapiens_hsa047261.00762329
65Tight junction_Homo sapiens_hsa045300.98458198
66Choline metabolism in cancer_Homo sapiens_hsa052310.97846008
67Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.97406555
68Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.96635214
69One carbon pool by folate_Homo sapiens_hsa006700.96620838
70RNA transport_Homo sapiens_hsa030130.96413541
71Cell cycle_Homo sapiens_hsa041100.95500887
72Cholinergic synapse_Homo sapiens_hsa047250.92926435
73Vibrio cholerae infection_Homo sapiens_hsa051100.91491150
74Butanoate metabolism_Homo sapiens_hsa006500.90237444
75Influenza A_Homo sapiens_hsa051640.90082227
76T cell receptor signaling pathway_Homo sapiens_hsa046600.89849120
77Proteasome_Homo sapiens_hsa030500.89183644
78Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.88881840
79Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.87856018
80Measles_Homo sapiens_hsa051620.85956368
81Arginine and proline metabolism_Homo sapiens_hsa003300.80642238
82Viral myocarditis_Homo sapiens_hsa054160.79106861
83ErbB signaling pathway_Homo sapiens_hsa040120.78877326
84Biosynthesis of amino acids_Homo sapiens_hsa012300.75573213
85Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.72620877
86Ras signaling pathway_Homo sapiens_hsa040140.69806240
87Carbon metabolism_Homo sapiens_hsa012000.68954488
88Pancreatic cancer_Homo sapiens_hsa052120.66956296
89Hematopoietic cell lineage_Homo sapiens_hsa046400.65045303
90Platelet activation_Homo sapiens_hsa046110.63490166
91Toxoplasmosis_Homo sapiens_hsa051450.63477731
92Toll-like receptor signaling pathway_Homo sapiens_hsa046200.60551926
93p53 signaling pathway_Homo sapiens_hsa041150.58739355
94Tuberculosis_Homo sapiens_hsa051520.58377526
95Transcriptional misregulation in cancer_Homo sapiens_hsa052020.58130468
96Pentose phosphate pathway_Homo sapiens_hsa000300.57711841
97Arginine biosynthesis_Homo sapiens_hsa002200.57655441
98Glutathione metabolism_Homo sapiens_hsa004800.57460975
99mRNA surveillance pathway_Homo sapiens_hsa030150.57232591
100HTLV-I infection_Homo sapiens_hsa051660.56710893
101Propanoate metabolism_Homo sapiens_hsa006400.54773833
102Prostate cancer_Homo sapiens_hsa052150.54363272
103Fatty acid metabolism_Homo sapiens_hsa012120.53753445
104VEGF signaling pathway_Homo sapiens_hsa043700.53022724
105Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.51820261
106Leukocyte transendothelial migration_Homo sapiens_hsa046700.51816361
107Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51789614
108N-Glycan biosynthesis_Homo sapiens_hsa005100.51374402
109Dopaminergic synapse_Homo sapiens_hsa047280.51216890
110Hepatitis B_Homo sapiens_hsa051610.51199377
111Small cell lung cancer_Homo sapiens_hsa052220.51145397
112Apoptosis_Homo sapiens_hsa042100.50783906
113Huntingtons disease_Homo sapiens_hsa050160.50145988
114Prion diseases_Homo sapiens_hsa050200.49486791
115Hedgehog signaling pathway_Homo sapiens_hsa043400.48511853
116Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.48436768
117Chronic myeloid leukemia_Homo sapiens_hsa052200.47469193
118ECM-receptor interaction_Homo sapiens_hsa045120.47155369
119GABAergic synapse_Homo sapiens_hsa047270.47151341
120Focal adhesion_Homo sapiens_hsa045100.47055036
121Chemokine signaling pathway_Homo sapiens_hsa040620.46968573
122Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46421096
123Glioma_Homo sapiens_hsa052140.46139930
124Regulation of actin cytoskeleton_Homo sapiens_hsa048100.46071891
125RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.45170329
126Alcoholism_Homo sapiens_hsa050340.45151551
127Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.44489736
128Rheumatoid arthritis_Homo sapiens_hsa053230.43843512
129Malaria_Homo sapiens_hsa051440.43403613
130PI3K-Akt signaling pathway_Homo sapiens_hsa041510.42446589
131Collecting duct acid secretion_Homo sapiens_hsa049660.41130108
132Salmonella infection_Homo sapiens_hsa051320.41028907
133Non-homologous end-joining_Homo sapiens_hsa034500.40761400
134Nitrogen metabolism_Homo sapiens_hsa009100.40667114
135Ribosome_Homo sapiens_hsa030100.39415212
136MicroRNAs in cancer_Homo sapiens_hsa052060.39293229
137Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.38344186
138Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.38109988
139Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.37991072
140Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.37484221
141Purine metabolism_Homo sapiens_hsa002300.35827463
142Phagosome_Homo sapiens_hsa041450.34057021
143Cysteine and methionine metabolism_Homo sapiens_hsa002700.34046517
144Adipocytokine signaling pathway_Homo sapiens_hsa049200.33864021
145Hepatitis C_Homo sapiens_hsa051600.32596586
146Peroxisome_Homo sapiens_hsa041460.31893660
147Basal cell carcinoma_Homo sapiens_hsa052170.31612785
148SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29650851
149Gap junction_Homo sapiens_hsa045400.29204129
150Non-small cell lung cancer_Homo sapiens_hsa052230.28730863
151Basal transcription factors_Homo sapiens_hsa030220.28531677
152Morphine addiction_Homo sapiens_hsa050320.27640112
153Primary bile acid biosynthesis_Homo sapiens_hsa001200.27083970
154Colorectal cancer_Homo sapiens_hsa052100.26321868
155Wnt signaling pathway_Homo sapiens_hsa043100.25747095
156Proteoglycans in cancer_Homo sapiens_hsa052050.25137473
157Histidine metabolism_Homo sapiens_hsa003400.25071928
158RNA polymerase_Homo sapiens_hsa030200.24689815
159Phosphatidylinositol signaling system_Homo sapiens_hsa040700.24681496
160Vascular smooth muscle contraction_Homo sapiens_hsa042700.23892276
161Long-term potentiation_Homo sapiens_hsa047200.23887969
162Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.20875111
163Sulfur relay system_Homo sapiens_hsa041220.18940380
164Tryptophan metabolism_Homo sapiens_hsa003800.18661874
165Pyruvate metabolism_Homo sapiens_hsa006200.17342345
166Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.16906259
167Notch signaling pathway_Homo sapiens_hsa043300.16662192
168Fructose and mannose metabolism_Homo sapiens_hsa000510.16034641
169Acute myeloid leukemia_Homo sapiens_hsa052210.14174860

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »