SPINK2

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





Description: This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1binding of sperm to zona pellucida (GO:0007339)9.98996235
2piRNA metabolic process (GO:0034587)9.93580289
3plasma membrane fusion (GO:0045026)9.80586607
4cell-cell recognition (GO:0009988)9.74671930
5epithelial cilium movement (GO:0003351)9.07968307
6reproduction (GO:0000003)8.81375330
7* spermatid development (GO:0007286)8.78324135
8motile cilium assembly (GO:0044458)8.75723765
9male meiosis (GO:0007140)8.75344997
10synaptonemal complex organization (GO:0070193)8.46993466
11synaptonemal complex assembly (GO:0007130)8.24050888
12single fertilization (GO:0007338)7.99775171
13cilium movement (GO:0003341)7.82006080
14epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.54258534
15sperm capacitation (GO:0048240)7.36990027
16regulation of cilium movement (GO:0003352)7.23824722
17* fertilization (GO:0009566)6.52512395
18deoxyribonucleoside monophosphate metabolic process (GO:0009162)6.26027760
19DNA methylation involved in gamete generation (GO:0043046)6.25451444
20male meiosis I (GO:0007141)6.16455043
21spermatogenesis (GO:0007283)6.06046814
22male gamete generation (GO:0048232)6.04014204
23negative regulation of inclusion body assembly (GO:0090084)5.91373350
24chromosome organization involved in meiosis (GO:0070192)5.77074899
25gamete generation (GO:0007276)5.54824934
26negative regulation of B cell apoptotic process (GO:0002903)5.50448937
27pyrimidine deoxyribonucleotide catabolic process (GO:0009223)5.34184958
28microtubule depolymerization (GO:0007019)5.34156753
29purine nucleotide salvage (GO:0032261)5.29165986
30meiotic nuclear division (GO:0007126)5.26009839
31* cellular process involved in reproduction in multicellular organism (GO:0022412)5.17199663
32meiosis I (GO:0007127)5.16878075
33aggressive behavior (GO:0002118)5.05689882
34regulation of inclusion body assembly (GO:0090083)5.00364206
35organic cation transport (GO:0015695)5.00024381
36* germ cell development (GO:0007281)4.98786111
37purine deoxyribonucleotide catabolic process (GO:0009155)4.95422740
38ventricular system development (GO:0021591)4.93946467
39deoxyribonucleotide catabolic process (GO:0009264)4.83380578
40* seminiferous tubule development (GO:0072520)4.81582537
41deoxyribose phosphate catabolic process (GO:0046386)4.63682174
42cell recognition (GO:0008037)4.49731078
43meiotic cell cycle (GO:0051321)4.47778423
44Peyers patch development (GO:0048541)4.41379253
45mucosal-associated lymphoid tissue development (GO:0048537)4.41379253
46calcium ion-dependent exocytosis (GO:0017156)4.36720843
47monoubiquitinated protein deubiquitination (GO:0035520)4.34263428
48multicellular organismal reproductive process (GO:0048609)4.32300212
49pyrimidine nucleotide catabolic process (GO:0006244)4.31553674
50regulation of microtubule-based movement (GO:0060632)4.26047256
51microtubule severing (GO:0051013)4.23455417
52mature B cell differentiation involved in immune response (GO:0002313)4.22552092
53regulation of B cell apoptotic process (GO:0002902)4.13564939
54regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.08880808
55nucleotide salvage (GO:0043173)4.08461162
56positive regulation of B cell differentiation (GO:0045579)4.00853002
57protein localization to cilium (GO:0061512)3.99290823
58spermatid nucleus differentiation (GO:0007289)3.98525764
59autophagic vacuole fusion (GO:0000046)3.93248890
60base-excision repair, AP site formation (GO:0006285)3.88457314
61deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.83959440
62purine-containing compound salvage (GO:0043101)3.83422944
63sequestering of actin monomers (GO:0042989)3.83200016
64genitalia morphogenesis (GO:0035112)3.83120034
65purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.82223116
66chaperone-mediated protein complex assembly (GO:0051131)3.79764981
67DNA deamination (GO:0045006)3.77173617
68purine deoxyribonucleotide metabolic process (GO:0009151)3.74460323
69positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.73990649
70female mating behavior (GO:0060180)3.71474874
71endothelium development (GO:0003158)3.71105736
72positive regulation of prostaglandin secretion (GO:0032308)3.70261588
73chromosome condensation (GO:0030261)3.69166230
742-deoxyribonucleotide metabolic process (GO:0009394)3.68449285
75response to interferon-beta (GO:0035456)3.65160480
76left/right pattern formation (GO:0060972)3.64634989
77grooming behavior (GO:0007625)3.64211672
78pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.61051084
79regulation of female receptivity (GO:0045924)3.60520643
80meiotic cell cycle process (GO:1903046)3.59953886
81DNA packaging (GO:0006323)3.56922129
82regulation of penile erection (GO:0060405)3.54717401
83gene silencing by RNA (GO:0031047)3.53078790
84deoxyribose phosphate metabolic process (GO:0019692)3.47184072
85regulation of germinal center formation (GO:0002634)3.44373998
86synapsis (GO:0007129)3.43761464
87multicellular organismal development (GO:0007275)3.39481609
88positive regulation of antigen processing and presentation (GO:0002579)3.35290596
89ribosomal small subunit assembly (GO:0000028)3.33150669
90immunoglobulin mediated immune response (GO:0016064)3.32301375
91protein complex biogenesis (GO:0070271)3.30537666
92regulation of spindle checkpoint (GO:0090231)3.30522498
93nucleoside diphosphate phosphorylation (GO:0006165)3.29587569
94cellular response to exogenous dsRNA (GO:0071360)3.28663259
95glycerol ether metabolic process (GO:0006662)3.28544847
96negative regulation of thymocyte apoptotic process (GO:0070244)3.27587716
97hyperosmotic salinity response (GO:0042538)3.21863094
98protein polyglutamylation (GO:0018095)3.21820638
99regulation of meiosis I (GO:0060631)3.20328855
100intraciliary transport (GO:0042073)3.19902745
101positive regulation of T cell differentiation in thymus (GO:0033089)3.17675670
102regulation of antigen processing and presentation (GO:0002577)3.13203274
103organelle membrane fusion (GO:0090174)3.12270832
104nuclear pore complex assembly (GO:0051292)3.10424623
105B cell mediated immunity (GO:0019724)3.07164820
106axoneme assembly (GO:0035082)3.05231336
107mitochondrial respiratory chain complex assembly (GO:0033108)3.05202530
108ether metabolic process (GO:0018904)3.01336612
109antigen processing and presentation of endogenous antigen (GO:0019883)3.01192216
110interferon-gamma secretion (GO:0072643)3.01039373
111deoxyribonucleotide metabolic process (GO:0009262)3.00486455
112regulation of centriole replication (GO:0046599)2.98303806
113mature B cell differentiation (GO:0002335)2.95910303
114protein refolding (GO:0042026)2.94935666
115single strand break repair (GO:0000012)2.94655975
116amino-acid betaine transport (GO:0015838)2.94082295
117carnitine transport (GO:0015879)2.94082295
118pseudouridine synthesis (GO:0001522)2.91703789
119microtubule-based movement (GO:0007018)2.91313178
120purine nucleobase biosynthetic process (GO:0009113)2.90756386
121alditol metabolic process (GO:0019400)2.90419376
122mast cell activation involved in immune response (GO:0002279)2.90111763
123mast cell degranulation (GO:0043303)2.90111763
124regulation of B cell differentiation (GO:0045577)2.89656989
125definitive hemopoiesis (GO:0060216)2.88948537
126GTP biosynthetic process (GO:0006183)2.88499529
127regulation of prostaglandin secretion (GO:0032306)2.87894608
128nucleus organization (GO:0006997)2.86689752
129mitochondrial respiratory chain complex I assembly (GO:0032981)2.85965374
130NADH dehydrogenase complex assembly (GO:0010257)2.85965374
131mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.85965374
132negative regulation of lymphocyte apoptotic process (GO:0070229)2.85464275
133cellular response to interferon-beta (GO:0035458)2.84705137
134carnitine transmembrane transport (GO:1902603)2.84648763
135histamine secretion (GO:0001821)2.84445052
136chaperone mediated protein folding requiring cofactor (GO:0051085)2.84362392
137regulation of mitochondrial translation (GO:0070129)2.83412503
138regulation of dendritic cell antigen processing and presentation (GO:0002604)2.80521928
139cytochrome complex assembly (GO:0017004)2.79114944
140polyol catabolic process (GO:0046174)2.78794370
141metallo-sulfur cluster assembly (GO:0031163)2.76438028
142iron-sulfur cluster assembly (GO:0016226)2.76438028
143negative regulation of organelle assembly (GO:1902116)2.75780836
144negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 2.72002478
145negative regulation of nitric oxide biosynthetic process (GO:0045019)2.71930637
146cilium organization (GO:0044782)2.71294086
147pore complex assembly (GO:0046931)2.71023673
148UTP biosynthetic process (GO:0006228)2.68908384
149rRNA modification (GO:0000154)2.68744888
150positive thymic T cell selection (GO:0045059)2.68520455
151centriole replication (GO:0007099)2.67600981
152microtubule polymerization or depolymerization (GO:0031109)2.66175186
153pyrimidine nucleoside monophosphate metabolic process (GO:0009129)2.65626899
154centriole assembly (GO:0098534)2.65410587
155protein K11-linked deubiquitination (GO:0035871)2.62025992
156negative regulation of T-helper cell differentiation (GO:0045623)2.60568498
157negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.60568498
158regulation of protein polyubiquitination (GO:1902914)2.60423536
159regulation of T-helper 1 cell differentiation (GO:0045625)2.58741879
160lactate metabolic process (GO:0006089)2.58070786
161Arp2/3 complex-mediated actin nucleation (GO:0034314)2.57878178
162deoxyribose phosphate biosynthetic process (GO:0046385)2.57764544
1632-deoxyribonucleotide biosynthetic process (GO:0009265)2.57764544
164branched-chain amino acid catabolic process (GO:0009083)2.57752511
165nucleoside salvage (GO:0043174)2.57613183
166telomere maintenance via recombination (GO:0000722)2.57455736
167nucleobase biosynthetic process (GO:0046112)2.57289440
168telomere maintenance via semi-conservative replication (GO:0032201)2.57024707
169epithelial cell differentiation involved in kidney development (GO:0035850)2.56830452
170nucleotide-excision repair, DNA gap filling (GO:0006297)2.56580054
171cilium assembly (GO:0042384)2.55259439
172cellular component assembly involved in morphogenesis (GO:0010927)2.54364237
173histone exchange (GO:0043486)2.54235855
174ubiquinone biosynthetic process (GO:0006744)2.54230536
175cilium morphogenesis (GO:0060271)2.53371245
176base-excision repair (GO:0006284)2.53102160
177positive regulation of icosanoid secretion (GO:0032305)2.53070244
178mismatch repair (GO:0006298)2.52950392
179sexual reproduction (GO:0019953)2.52722020
180mitotic sister chromatid cohesion (GO:0007064)2.52699791
181DNA integration (GO:0015074)2.52664846
182adenosine metabolic process (GO:0046085)2.52599737
183pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.52017158
184nuclear pore organization (GO:0006999)2.51084261
185mannosylation (GO:0097502)2.50342610
186pinocytosis (GO:0006907)2.48544759
187branched-chain amino acid metabolic process (GO:0009081)2.46948256
188negative regulation of telomere maintenance (GO:0032205)2.46311823
189regulation of icosanoid secretion (GO:0032303)2.45712539
190UV protection (GO:0009650)2.45134123
191fusion of sperm to egg plasma membrane (GO:0007342)13.0241703
192cilium or flagellum-dependent cell motility (GO:0001539)12.7961453
193sperm motility (GO:0030317)11.8686078
194acrosome assembly (GO:0001675)11.1485948
195sperm-egg recognition (GO:0035036)10.8551256
196multicellular organism reproduction (GO:0032504)10.6099056
197cell wall macromolecule metabolic process (GO:0044036)10.2887722
198cell wall macromolecule catabolic process (GO:0016998)10.2887722
199acrosome reaction (GO:0007340)10.0731611
200axonemal dynein complex assembly (GO:0070286)10.0599846

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human6.02383588
2TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.77145726
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.38166052
4CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.82432958
5ELF1_17652178_ChIP-ChIP_JURKAT_Human3.81762495
6EZH2_22144423_ChIP-Seq_EOC_Human3.53602256
7SCL_19346495_ChIP-Seq_HPC-7_Human2.96060523
8E2F7_22180533_ChIP-Seq_HELA_Human2.89780248
9HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.87838115
10BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.82023769
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.65994452
12IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.63185463
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.58990217
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.52009699
15LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.47132615
16EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.36328454
17SRF_21415370_ChIP-Seq_HL-1_Mouse2.35546670
18RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.34181977
19CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.28671512
20KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.21925069
21PCGF2_27294783_Chip-Seq_ESCs_Mouse2.18252212
22SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.18246876
23ETS1_20019798_ChIP-Seq_JURKAT_Human2.15003934
24VDR_23849224_ChIP-Seq_CD4+_Human2.14181630
25MYC_18555785_ChIP-Seq_MESCs_Mouse2.12415176
26FOXP3_21729870_ChIP-Seq_TREG_Human2.07623023
27IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.07599086
28MYC_18358816_ChIP-ChIP_MESCs_Mouse2.05517789
29SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.04643286
30TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.04500811
31SPI1_23547873_ChIP-Seq_NB4_Human2.01436625
32EST1_17652178_ChIP-ChIP_JURKAT_Human2.01246131
33MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse11.4870846
34KAP1_22055183_ChIP-Seq_ESCs_Mouse1.99910972
35EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.97017590
36MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.96717948
37* MYB_26560356_Chip-Seq_TH2_Human1.94477887
38FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.92318807
39CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.90223494
40CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.87545640
41CIITA_25753668_ChIP-Seq_RAJI_Human1.87342610
42HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.86708127
43VDR_21846776_ChIP-Seq_THP-1_Human1.85322222
44GABP_17652178_ChIP-ChIP_JURKAT_Human1.82002181
45ZNF274_21170338_ChIP-Seq_K562_Hela1.78896040
46GATA1_26923725_Chip-Seq_HPCs_Mouse1.78533857
47ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.77578372
48HOXB4_20404135_ChIP-ChIP_EML_Mouse1.74993192
49LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.74645006
50ELK4_26923725_Chip-Seq_MESODERM_Mouse1.74185093
51* STAT1_17558387_ChIP-Seq_HELA_Human1.73999348
52FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.71130490
53VDR_22108803_ChIP-Seq_LS180_Human1.69989199
54BCL6_27268052_Chip-Seq_Bcells_Human1.68314362
55PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.66257751
56HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.62061013
57PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.60383026
58SOX2_22085726_ChIP-Seq_NPCs_Mouse1.60090620
59GATA3_21867929_ChIP-Seq_CD8_Mouse1.58835163
60KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.58301282
61PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.57830863
62E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.57814988
63TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.57744728
64GATA3_21867929_ChIP-Seq_TH1_Mouse1.55292862
65MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.50638519
66PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.50015457
67CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.48611069
68NFE2_27457419_Chip-Seq_LIVER_Mouse1.48226982
69GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.47953307
70CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.47902023
71VDR_24763502_ChIP-Seq_THP-1_Human1.46864359
72PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.46260637
73ESR1_15608294_ChIP-ChIP_MCF-7_Human1.45836124
74* UTX_26944678_Chip-Seq_JUKART_Human1.44908656
75RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.43699793
76GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.42167778
77CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.41324083
78IRF8_21731497_ChIP-ChIP_J774_Mouse1.41230921
79MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.40199882
80BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.39970018
81FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.39888363
82GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.38359677
83YY1_21170310_ChIP-Seq_MESCs_Mouse1.37495031
84VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.36842926
85ERG_20887958_ChIP-Seq_HPC-7_Mouse1.35841057
86SUZ12_27294783_Chip-Seq_NPCs_Mouse1.35796631
87GATA3_27048872_Chip-Seq_THYMUS_Human1.34555763
88SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.32499932
89STAT6_21828071_ChIP-Seq_BEAS2B_Human1.31545108
90GATA2_22383799_ChIP-Seq_G1ME_Mouse1.30875507
91TAL1_26923725_Chip-Seq_HPCs_Mouse1.30359335
92GABP_19822575_ChIP-Seq_HepG2_Human1.30007453
93CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29195191
94P300_27268052_Chip-Seq_Bcells_Human1.26582412
95FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.26165956
96SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.26148459
97IRF1_19129219_ChIP-ChIP_H3396_Human1.26146757
98LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.26129792
99CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.24646746
100* MYB_26560356_Chip-Seq_TH1_Human1.24621155
101EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.24396597
102FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.24239903
103GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23406227
104RUNX_20019798_ChIP-Seq_JUKART_Human1.22407175
105SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21937646
106SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.21248870
107GATA3_26560356_Chip-Seq_TH2_Human1.20839649
108SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.20784478
109E2F1_18555785_ChIP-Seq_MESCs_Mouse1.19712486
110KDM2B_26808549_Chip-Seq_REH_Human1.18531387
111WDR5_24793694_ChIP-Seq_LNCAP_Human1.18484204
112MYC_18940864_ChIP-ChIP_HL60_Human1.18267281
113CBP_20019798_ChIP-Seq_JUKART_Human1.17896143
114IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.17896143
115MYC_19030024_ChIP-ChIP_MESCs_Mouse1.17744107
116CREB1_15753290_ChIP-ChIP_HEK293T_Human1.17453356
117P53_21459846_ChIP-Seq_SAOS-2_Human1.17428989
118RAD21_21589869_ChIP-Seq_MESCs_Mouse1.16646664
119E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.15915691
120CRX_20693478_ChIP-Seq_RETINA_Mouse1.15410097
121SPI1_26923725_Chip-Seq_HPCs_Mouse1.15080053
122TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.14498850
123RARA_24833708_ChIP-Seq_LIVER_Mouse1.14065694
124GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.13420027
125PCGF2_27294783_Chip-Seq_NPCs_Mouse1.12696446
126STAT1_20625510_ChIP-Seq_HELA_Human1.11116774
127TTF2_22483619_ChIP-Seq_HELA_Human1.10552569
128PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.09995825
129PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.09987783
130SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.09517189
131FLI1_21867929_ChIP-Seq_CD8_Mouse1.08857661
132E2F1_20622854_ChIP-Seq_HELA_Human1.08822788
133CTCF_18555785_ChIP-Seq_MESCs_Mouse1.08539755
134MAF_26560356_Chip-Seq_TH1_Human1.06976477
135PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.06162835
136LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse1.06042583
137RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.05116078
138RXRA_24833708_ChIP-Seq_LIVER_Mouse1.03164274
139FLI1_21867929_ChIP-Seq_TH2_Mouse1.03080055
140TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02539384
141* SPI1_20517297_ChIP-Seq_HL60_Human1.02242094
142ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.02176442
143MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02161101
144ESRRB_18555785_Chip-Seq_ESCs_Mouse1.01188251
145OCT4_18555785_Chip-Seq_ESCs_Mouse1.00724726
146* ESET_19884257_ChIP-Seq_ESCs_Mouse1.00218393
147CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00085572
148RUNX1_22412390_ChIP-Seq_EML_Mouse0.99881350
149TET1_21451524_ChIP-Seq_MESCs_Mouse0.99832661
150OCT4_21477851_ChIP-Seq_ESCs_Mouse0.99801688
151CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99768639
152STAT4_19710469_ChIP-ChIP_TH1__Mouse0.99149227
153EZH2_27294783_Chip-Seq_NPCs_Mouse0.99059960
154XRN2_22483619_ChIP-Seq_HELA_Human0.98886404
155CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.98344393
156CTCF_21964334_ChIP-Seq_BJAB-B_Human0.97998041
157PU.1_20513432_ChIP-Seq_Bcells_Mouse0.97516592
158GF1_26923725_Chip-Seq_HPCs_Mouse0.97419179
159MYC_19079543_ChIP-ChIP_MESCs_Mouse0.96814904
160KDM5A_27292631_Chip-Seq_BREAST_Human0.96323885
161PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.95465606
162KLF4_18555785_Chip-Seq_ESCs_Mouse0.95364769
163CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.94933763
164CBX2_27304074_Chip-Seq_ESCs_Mouse0.94728728
165NANOG_18555785_Chip-Seq_ESCs_Mouse0.93744142
166NANOG_20526341_ChIP-Seq_ESCs_Human0.93570333
167YY1_22570637_ChIP-Seq_MALME-3M_Human0.93157490
168ERG_20517297_ChIP-Seq_VCAP_Human0.93114901
169ELF1_20517297_ChIP-Seq_JURKAT_Human0.93024321
170RUNX1_26923725_Chip-Seq_HPCs_Mouse0.92592012
171NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.92295405
172P53_22387025_ChIP-Seq_ESCs_Mouse0.89877231
173EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.89398227
174POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.89335125
175TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89335125
176EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.89222702
177SMAD1_18555785_Chip-Seq_ESCs_Mouse0.88959631
178EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.87773718
179CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87616534
180BCOR_27268052_Chip-Seq_Bcells_Human0.87501179
181STAT3_18555785_Chip-Seq_ESCs_Mouse0.86955858
182CTCF_26484167_Chip-Seq_Bcells_Mouse0.86852945
183IRF8_27001747_Chip-Seq_BMDM_Mouse0.86823283
184EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.86231028
185PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.85045488
186P300_18555785_Chip-Seq_ESCs_Mouse0.84112135
187CMYC_18555785_Chip-Seq_ESCs_Mouse0.83908373
188RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.82932099

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003698_abnormal_male_reproductive5.78760221
2MP0001929_abnormal_gametogenesis5.47417932
3MP0008877_abnormal_DNA_methylation5.00019637
4MP0002210_abnormal_sex_determination3.76777710
5MP0002396_abnormal_hematopoietic_system3.51789237
6MP0003806_abnormal_nucleotide_metabolis3.47620858
7MP0001145_abnormal_male_reproductive3.16978445
8MP0002161_abnormal_fertility/fecundity3.15045005
9MP0009697_abnormal_copulation3.00581780
10MP0002653_abnormal_ependyma_morphology2.76762366
11MP0000653_abnormal_sex_gland2.68891851
12MP0000465_gastrointestinal_hemorrhage2.54952326
13MP0005645_abnormal_hypothalamus_physiol2.42638862
14MP0002160_abnormal_reproductive_system2.25204117
15MP0005075_abnormal_melanosome_morpholog2.25127452
16MP0005084_abnormal_gallbladder_morpholo2.17903742
17MP0005646_abnormal_pituitary_gland2.06048003
18MP0003787_abnormal_imprinting2.04476060
19MP0003724_increased_susceptibility_to2.02874960
20MP0008057_abnormal_DNA_replication2.01855889
21MP0005410_abnormal_fertilization14.8948106
22MP0003646_muscle_fatigue1.77128011
23MP0002398_abnormal_bone_marrow1.69957066
24MP0000372_irregular_coat_pigmentation1.69673568
25MP0001800_abnormal_humoral_immune1.66794196
26MP0000689_abnormal_spleen_morphology1.58665703
27MP0000681_abnormal_thyroid_gland1.55533004
28MP0004147_increased_porphyrin_level1.48762051
29MP0000716_abnormal_immune_system1.48519136
30MP0005670_abnormal_white_adipose1.48212065
31MP0003763_abnormal_thymus_physiology1.47799800
32MP0005623_abnormal_meninges_morphology1.45796346
33MP0008058_abnormal_DNA_repair1.45285200
34MP0003866_abnormal_defecation1.44481066
35MP0002019_abnormal_tumor_incidence1.44123130
36MP0002722_abnormal_immune_system1.43029761
37MP0002234_abnormal_pharynx_morphology1.40070725
38MP0009379_abnormal_foot_pigmentation1.38834593
39MP0008872_abnormal_physiological_respon1.36275092
40MP0002429_abnormal_blood_cell1.34146676
41MP0001790_abnormal_immune_system1.33305224
42MP0005387_immune_system_phenotype1.33305224
43MP0010094_abnormal_chromosome_stability1.31902939
44MP0008875_abnormal_xenobiotic_pharmacok1.28083902
45MP0005389_reproductive_system_phenotype1.24208222
46MP0005220_abnormal_exocrine_pancreas1.22758313
47MP0001905_abnormal_dopamine_level1.21137630
48MP0002822_catalepsy1.20990867
49MP0003191_abnormal_cellular_cholesterol1.19308027
50MP0006292_abnormal_olfactory_placode1.16499247
51MP0002006_tumorigenesis1.15957237
52MP0001986_abnormal_taste_sensitivity1.13167074
53MP0001835_abnormal_antigen_presentation1.11417661
54MP0005647_abnormal_sex_gland1.09338750
55MP0002282_abnormal_trachea_morphology1.07488657
56MP0008007_abnormal_cellular_replicative1.06746366
57MP0003693_abnormal_embryo_hatching1.05335873
58MP0001968_abnormal_touch/_nociception1.04919684
59MP0003111_abnormal_nucleus_morphology1.04445181
60MP0003786_premature_aging1.04072202
61MP0003252_abnormal_bile_duct1.03818659
62MP0002166_altered_tumor_susceptibility0.96632514
63MP0001881_abnormal_mammary_gland0.95501898
64MP0009765_abnormal_xenobiotic_induced0.94981800
65MP0003186_abnormal_redox_activity0.94290713
66MP0003075_altered_response_to0.93909458
67MP0006035_abnormal_mitochondrial_morpho0.92473192
68MP0008995_early_reproductive_senescence0.91841287
69MP0000703_abnormal_thymus_morphology0.91658553
70MP0005397_hematopoietic_system_phenotyp0.91491456
71MP0001545_abnormal_hematopoietic_system0.91491456
72MP0000678_abnormal_parathyroid_gland0.90897242
73MP0002148_abnormal_hypersensitivity_rea0.89775212
74MP0005165_increased_susceptibility_to0.89532433
75MP0010155_abnormal_intestine_physiology0.89220374
76MP0008873_increased_physiological_sensi0.88537900
77MP0006082_CNS_inflammation0.86110643
78MP0005451_abnormal_body_composition0.83976043
79MP0006276_abnormal_autonomic_nervous0.83245661
80MP0010307_abnormal_tumor_latency0.82912571
81MP0004782_abnormal_surfactant_physiolog0.80677418
82MP0000358_abnormal_cell_content/0.80112679
83MP0003878_abnormal_ear_physiology0.79777570
84MP0005377_hearing/vestibular/ear_phenot0.79777570
85MP0001984_abnormal_olfaction0.79527200
86MP0009763_increased_sensitivity_to0.78389578
87MP0001765_abnormal_ion_homeostasis0.78295903
88MP0000013_abnormal_adipose_tissue0.78014887
89MP0000230_abnormal_systemic_arterial0.77717844
90MP0005319_abnormal_enzyme/_coenzyme0.77532390
91MP0003943_abnormal_hepatobiliary_system0.77170374
92MP0008775_abnormal_heart_ventricle0.76832738
93MP0000613_abnormal_salivary_gland0.76406987
94MP0009046_muscle_twitch0.74782420
95MP0003303_peritoneal_inflammation0.74089367
96MP0009785_altered_susceptibility_to0.73821800
97MP0001664_abnormal_digestion0.72462160
98MP0003436_decreased_susceptibility_to0.72390920
99MP0001873_stomach_inflammation0.71403684
100MP0003077_abnormal_cell_cycle0.70031482
101MP0002405_respiratory_system_inflammati0.68062454
102MP0010386_abnormal_urinary_bladder0.68026294
103MP0005535_abnormal_body_temperature0.67591579
104MP0006072_abnormal_retinal_apoptosis0.67346893
105MP0004043_abnormal_pH_regulation0.67122224
106MP0001853_heart_inflammation0.64612829
107MP0004808_abnormal_hematopoietic_stem0.64356953
108MP0001730_embryonic_growth_arrest0.63702451
109MP0001119_abnormal_female_reproductive0.60721458
110MP0005025_abnormal_response_to0.58478499
111MP0000685_abnormal_immune_system0.55376707
112MP0004233_abnormal_muscle_weight0.53859530
113MP0002419_abnormal_innate_immunity0.53821941
114MP0005636_abnormal_mineral_homeostasis0.53066455
115MP0008260_abnormal_autophagy0.52475799
116MP0003011_delayed_dark_adaptation0.52333220
117MP0005000_abnormal_immune_tolerance0.52134295
118MP0000313_abnormal_cell_death0.51015733
119MP0003699_abnormal_female_reproductive0.50706153
120MP0009278_abnormal_bone_marrow0.50063514
121MP0003448_altered_tumor_morphology0.48553026
122MP0003950_abnormal_plasma_membrane0.48193808
123MP0002132_abnormal_respiratory_system0.47867899
124MP0002723_abnormal_immune_serum0.47597394
125MP0001727_abnormal_embryo_implantation0.46801485
126MP0003329_amyloid_beta_deposits0.44487896
127MP0003718_maternal_effect0.43569269
128MP0006036_abnormal_mitochondrial_physio0.42655021
129MP0001851_eye_inflammation0.41994925
130MP0002452_abnormal_antigen_presenting0.41567061
131MP0004957_abnormal_blastocyst_morpholog0.40101207
132MP0000604_amyloidosis0.39990301
133MP0001764_abnormal_homeostasis0.39720486
134MP0004019_abnormal_vitamin_homeostasis0.38912829
135MP0005310_abnormal_salivary_gland0.38467179
136MP0008932_abnormal_embryonic_tissue0.37898518
137MP0002102_abnormal_ear_morphology0.37377189
138MP0009333_abnormal_splenocyte_physiolog0.36608939
139MP0008469_abnormal_protein_level0.36143869
140MP0001845_abnormal_inflammatory_respons0.35416317
141MP0009115_abnormal_fat_cell0.34604549
142MP0005076_abnormal_cell_differentiation0.34209824
143MP0003936_abnormal_reproductive_system0.32460745
144MP0001293_anophthalmia0.31408579
145MP0001324_abnormal_eye_pigmentation0.30393955
146MP0001819_abnormal_immune_cell0.30221162
147MP0005395_other_phenotype0.29766426
148MP0000858_altered_metastatic_potential0.28491906
149MP0002928_abnormal_bile_duct0.27940490
150MP0005464_abnormal_platelet_physiology0.26885939
151MP0002136_abnormal_kidney_physiology0.26622110
152MP0002420_abnormal_adaptive_immunity0.26428936
153MP0001661_extended_life_span0.24472833
154MP0000569_abnormal_digit_pigmentation0.24033499
155MP0002971_abnormal_brown_adipose0.23286190
156MP0005380_embryogenesis_phenotype0.23182001
157MP0001672_abnormal_embryogenesis/_devel0.23182001
158MP0005671_abnormal_response_to0.22736815
159MP0003879_abnormal_hair_cell0.22699790
160MP0009764_decreased_sensitivity_to0.22560699
161MP0002295_abnormal_pulmonary_circulatio0.21690878
162MP0001697_abnormal_embryo_size0.21377706
163MP0002168_other_aberrant_phenotype0.20944624

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.20401910
2Abnormal respiratory motile cilium morphology (HP:0005938)8.54623638
3Abnormal respiratory epithelium morphology (HP:0012253)8.54623638
4Rhinitis (HP:0012384)7.82010650
5Abnormal ciliary motility (HP:0012262)7.30086714
6Chronic bronchitis (HP:0004469)7.16775947
7Infertility (HP:0000789)6.49629917
8Nasal polyposis (HP:0100582)6.43708623
9Abnormality of the nasal mucosa (HP:0000433)5.26027392
10Agammaglobulinemia (HP:0004432)4.95413173
11Elevated erythrocyte sedimentation rate (HP:0003565)4.83360567
12Bronchiectasis (HP:0002110)4.59628337
13Abnormality of B cell number (HP:0010975)4.42754306
14Nephronophthisis (HP:0000090)4.41917268
15Bronchitis (HP:0012387)4.41611490
16B lymphocytopenia (HP:0010976)4.24428713
17Panhypogammaglobulinemia (HP:0003139)4.23563225
18Severe combined immunodeficiency (HP:0004430)4.17996006
19Thrombocytosis (HP:0001894)3.93068144
20Male infertility (HP:0003251)3.71577138
21Acute lymphatic leukemia (HP:0006721)3.69424334
22Hepatocellular necrosis (HP:0001404)3.59424029
23Increased intramyocellular lipid droplets (HP:0012240)3.57778611
24Microvesicular hepatic steatosis (HP:0001414)3.43444582
25Type I transferrin isoform profile (HP:0003642)3.40959781
26Abnormal spermatogenesis (HP:0008669)3.39266834
27Abnormality of the renal medulla (HP:0100957)3.38864316
28Hepatic necrosis (HP:0002605)3.38855867
29Autoimmune hemolytic anemia (HP:0001890)3.37580321
30Increased muscle lipid content (HP:0009058)3.35956841
31Decreased electroretinogram (ERG) amplitude (HP:0000654)3.29981978
32Recurrent sinusitis (HP:0011108)3.28478977
33Dicarboxylic aciduria (HP:0003215)3.26861855
34Abnormality of dicarboxylic acid metabolism (HP:0010995)3.26861855
35Combined immunodeficiency (HP:0005387)3.23059523
36Recurrent otitis media (HP:0000403)3.21159086
37Myositis (HP:0100614)3.20587192
38Mitochondrial inheritance (HP:0001427)3.10578787
39Abnormality of the lower motor neuron (HP:0002366)2.99423760
40Autoimmune thrombocytopenia (HP:0001973)2.96766456
41Abnormal mitochondria in muscle tissue (HP:0008316)2.95766965
42Increased IgE level (HP:0003212)2.95151326
43Gonadotropin excess (HP:0000837)2.95076095
44Tubular atrophy (HP:0000092)2.90616876
45Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.77855791
46Decreased activity of mitochondrial respiratory chain (HP:0008972)2.77855791
47Azoospermia (HP:0000027)2.75256719
48Impulsivity (HP:0100710)2.74804929
49Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.72644707
50Abnormal protein N-linked glycosylation (HP:0012347)2.72644707
51Abnormal protein glycosylation (HP:0012346)2.72644707
52Abnormal glycosylation (HP:0012345)2.72644707
53Increased CSF lactate (HP:0002490)2.70103645
54Reduced antithrombin III activity (HP:0001976)2.68479856
55Cerebral palsy (HP:0100021)2.68350412
56Granulocytopenia (HP:0001913)2.64379437
57Stomatitis (HP:0010280)2.63351879
58Thyroiditis (HP:0100646)2.62789174
59Molar tooth sign on MRI (HP:0002419)2.62242073
60Abnormality of midbrain morphology (HP:0002418)2.62242073
61Aplastic anemia (HP:0001915)2.58706179
62Renal cortical cysts (HP:0000803)2.58612320
63Recurrent bronchitis (HP:0002837)2.58168518
64Abnormal delayed hypersensitivity skin test (HP:0002963)2.57295351
65Increased neuronal autofluorescent lipopigment (HP:0002074)2.52735297
66Tubulointerstitial abnormality (HP:0001969)2.52673011
67Tubulointerstitial nephritis (HP:0001970)2.51534976
68Abnormality of T cell physiology (HP:0011840)2.49205409
69Recurrent fungal infections (HP:0002841)2.46744165
70Medial flaring of the eyebrow (HP:0010747)2.45090815
71Hypergammaglobulinemia (HP:0010702)2.44700325
72Abnormality of the anterior horn cell (HP:0006802)2.44008733
73Degeneration of anterior horn cells (HP:0002398)2.44008733
74Ragged-red muscle fibers (HP:0003200)2.42605805
753-Methylglutaconic aciduria (HP:0003535)2.39655005
76Visual hallucinations (HP:0002367)2.39459493
77Acute necrotizing encephalopathy (HP:0006965)2.39145260
78Abnormality of the prostate (HP:0008775)2.38640555
79Abolished electroretinogram (ERG) (HP:0000550)2.38116255
80Hypoplasia of the capital femoral epiphysis (HP:0003090)2.36933895
81Upper motor neuron abnormality (HP:0002127)2.36908611
82Amyotrophic lateral sclerosis (HP:0007354)2.36338298
83Absent rod-and cone-mediated responses on ERG (HP:0007688)2.35102290
84Impaired proprioception (HP:0010831)2.34618547
85Mesangial abnormality (HP:0001966)2.34271778
86Testicular atrophy (HP:0000029)2.33596405
87IgG deficiency (HP:0004315)2.32442128
88Meningitis (HP:0001287)2.32335721
89Tubulointerstitial fibrosis (HP:0005576)2.30995703
90Recurrent viral infections (HP:0004429)2.29984630
91Encephalitis (HP:0002383)2.26587705
92Lactic acidosis (HP:0003128)2.23513378
93Increased hepatocellular lipid droplets (HP:0006565)2.23456977
94Lipid accumulation in hepatocytes (HP:0006561)2.20184467
95Fibular hypoplasia (HP:0003038)2.18976184
96Progressive microcephaly (HP:0000253)2.12458582
97Chronic obstructive pulmonary disease (HP:0006510)2.11047120
98Obstructive lung disease (HP:0006536)2.11047120
99Increased serum lactate (HP:0002151)2.10893027
100Abnormality of T cells (HP:0002843)2.10301410
101Stomach cancer (HP:0012126)2.10094995
102Acute hepatic failure (HP:0006554)2.08602618
103Pancytopenia (HP:0001876)2.08550489
104Acute encephalopathy (HP:0006846)2.06381262
105Cellulitis (HP:0100658)2.03645506
106Increased IgM level (HP:0003496)2.02178428
107Mediastinal lymphadenopathy (HP:0100721)2.02114095
108Increased cerebral lipofuscin (HP:0011813)2.02065399
109Reticulocytopenia (HP:0001896)2.00789230
110Abnormality of the heme biosynthetic pathway (HP:0010472)2.00665562
111Opisthotonus (HP:0002179)2.00428238
112Respiratory insufficiency due to defective ciliary clearance (HP:0200073)13.2549870
113Dynein arm defect of respiratory motile cilia (HP:0012255)12.2155770
114Absent/shortened dynein arms (HP:0200106)12.2155770
115Eosinophilia (HP:0001880)1.99404466
116Prostate neoplasm (HP:0100787)1.99118715
117Aplasia/Hypoplasia of the thymus (HP:0010515)1.98454193
118Chronic otitis media (HP:0000389)1.97895358
119Postaxial foot polydactyly (HP:0001830)1.96914834
120IgM deficiency (HP:0002850)1.96553614
121Abnormality of eosinophils (HP:0001879)1.95961773
122J-shaped sella turcica (HP:0002680)1.95780798
123Ketosis (HP:0001946)1.91858183
124Stage 5 chronic kidney disease (HP:0003774)1.91680021
125Abnormal rod and cone electroretinograms (HP:0008323)1.91444791
126Progressive macrocephaly (HP:0004481)1.91173496
127Absent epiphyses (HP:0010577)1.89614563
128Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.89614563
129Renal Fanconi syndrome (HP:0001994)1.88520019
130Methylmalonic aciduria (HP:0012120)1.88061096
131Failure to thrive in infancy (HP:0001531)1.87863821
132Spontaneous abortion (HP:0005268)1.87338482
133Hypertensive crisis (HP:0100735)1.86317052
134Abnormality of the dental root (HP:0006486)1.85655020
135Taurodontia (HP:0000679)1.85655020
136Abnormality of permanent molar morphology (HP:0011071)1.85655020
137Congenital hepatic fibrosis (HP:0002612)1.85109967
138Sepsis (HP:0100806)1.83188811
139Spastic tetraparesis (HP:0001285)1.83159826
140Attenuation of retinal blood vessels (HP:0007843)1.81625136
141Hyperglycinemia (HP:0002154)1.80991849
142Abnormality of the renal cortex (HP:0011035)1.80968405
143Prolonged neonatal jaundice (HP:0006579)1.80803625
144Cerebral edema (HP:0002181)1.78739868
145Congenital stationary night blindness (HP:0007642)1.78237912
146Hyperglycinuria (HP:0003108)1.78126378
147Abnormality of lateral ventricle (HP:0030047)1.77713410
148Oculomotor apraxia (HP:0000657)1.77674413
149Microglossia (HP:0000171)1.73446803
150Abnormality of molar (HP:0011077)1.70161979
151Abnormality of molar morphology (HP:0011070)1.70161979
152Choroideremia (HP:0001139)1.69179314
153Supernumerary spleens (HP:0009799)1.67886835
154Absent frontal sinuses (HP:0002688)1.67794367
155Abnormality of dentin (HP:0010299)1.64466468
156Short ribs (HP:0000773)1.64466020
157Chronic sinusitis (HP:0011109)1.64355462
158Abnormality of the dental pulp (HP:0006479)1.64055942
159Facial cleft (HP:0002006)1.62767036
160Polydipsia (HP:0001959)1.62715080
161Abnormal drinking behavior (HP:0030082)1.62715080
162Pancreatic fibrosis (HP:0100732)1.57679260
163Renal dysplasia (HP:0000110)1.56900570
164Deformed sella turcica (HP:0002681)1.53919158
165Dyschromatopsia (HP:0007641)1.53162779
166Short nail (HP:0001799)1.50694870
167Abnormality of renal excretion (HP:0011036)1.49371017
168Postaxial hand polydactyly (HP:0001162)1.46865841
169Aplasia/Hypoplasia of the tongue (HP:0010295)1.46538434
170Median cleft lip (HP:0000161)1.45052517
171Recurrent gram-negative bacterial infections (HP:0005420)1.42472967
172Aplasia/Hypoplasia of the fibula (HP:0006492)1.40083421
173Nephropathy (HP:0000112)1.39235289
174Short thorax (HP:0010306)1.37325436
175Breast carcinoma (HP:0003002)1.36995046
176Cystic liver disease (HP:0006706)1.34881833
177Conjunctival telangiectasia (HP:0000524)1.34792073
178Personality changes (HP:0000751)1.33802112
179Heterotopia (HP:0002282)1.32236494
180Difficulty climbing stairs (HP:0003551)1.31424189
181Glucose intolerance (HP:0000833)1.29847637
182Abnormal gallbladder physiology (HP:0012438)1.28437002
183Cholecystitis (HP:0001082)1.28437002
184Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.27374069
185Decreased central vision (HP:0007663)1.27353667
186Retrobulbar optic neuritis (HP:0100654)1.26708791
187Optic neuritis (HP:0100653)1.26708791
188Abnormal biliary tract physiology (HP:0012439)1.25480294
189Bile duct proliferation (HP:0001408)1.25480294
190Broad distal phalanx of finger (HP:0009836)1.25340820
191Cleft eyelid (HP:0000625)1.25177604
192Congenital primary aphakia (HP:0007707)1.24933563
19311 pairs of ribs (HP:0000878)1.22657634
194Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.21959124
195Disinhibition (HP:0000734)1.21895210
196Hemorrhage of the eye (HP:0011885)1.21024291
197Gait imbalance (HP:0002141)1.20487435

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK48.70769405
2PDK38.70769405
3PDK25.84262744
4TESK15.30062994
5BCKDK5.03393782
6VRK24.75656646
7TAOK34.23555093
8KIT4.20526285
9PRKD33.63250436
10FLT33.57101561
11SCYL23.18143502
12ICK2.91989745
13KDR2.82325824
14NEK22.41333565
15NUAK12.41025009
16PTK2B2.35871651
17WNK42.03909134
18PNCK1.98512525
19STK391.96016885
20MAP4K21.94902069
21FES1.73714849
22VRK11.66367078
23MAP3K111.59688262
24TEC1.57952158
25STK381.55253025
26DAPK11.39136371
27SYK1.37835160
28GRK61.35715797
29TNK21.33075416
30BTK1.28809456
31RIPK41.27485883
32MAPKAPK31.25664203
33STK31.25146737
34JAK31.23709192
35ZAK1.22322729
36WEE11.15360396
37TXK1.13682089
38IKBKB1.13238021
39PIK3CG0.98207417
40DYRK1B0.97598259
41ITK0.95986576
42PDK10.94620352
43IKBKE0.93294163
44TIE10.92759829
45ADRBK20.90684571
46PINK10.89187337
47PIM20.87998628
48PLK40.87809512
49CSNK1G30.86393298
50MAPKAPK50.84041548
51DYRK30.84014030
52TTK0.83738899
53MAP2K30.82919244
54TLK10.82043742
55RPS6KB20.81554662
56LCK0.79740071
57IRAK10.75677170
58LYN0.74976683
59CDC70.74710076
60STK38L0.73879365
61TYRO30.70847475
62CCNB10.70712839
63BMPR20.70558908
64GRK10.69101225
65RPS6KA50.67811473
66WNK10.64715027
67CHEK20.59871173
68PBK0.59613580
69MAPK130.59379527
70ARAF0.58858605
71OXSR10.58460277
72NME20.58318974
73CSNK1A1L0.57703276
74CSNK1G10.56970462
75MAPK150.56079720
76BRAF0.55932679
77CSNK1G20.55875797
78PASK0.55235385
79INSRR0.54329209
80MAP2K20.53211273
81TAF10.51705010
82STK160.50547981
83BRSK20.49421276
84HCK0.48134022
85BUB10.48021749
86ATR0.47659933
87EIF2AK10.46964434
88PAK10.46351219
89CHEK10.45129363
90CDK190.43709398
91PDPK10.43660007
92TESK20.43056276
93PLK10.42498086
94EIF2AK20.41336878
95IRAK20.39380862
96LMTK20.37425915
97DAPK20.37325808
98DYRK20.36309469
99GRK50.34755275
100FRK0.33999321
101MUSK0.32443743
102IGF1R0.32366655
103CDK80.31169121
104OBSCN0.31102309
105MAPK30.30150470
106CDK70.28979136
107ADRBK10.28932182
108MARK30.28693989
109RPS6KA60.28602242
110CSNK1A10.28321321
111TBK10.28156189
112ATM0.27995665
113PIM10.27180096
114PRKCA0.26861335
115ABL10.26561822
116RPS6KC10.24018299
117RPS6KL10.24018299
118TAOK20.22486278
119MAPK40.21712805
120BRSK10.20020161
121ZAP700.19254233
122MAP3K50.18902832
123MAP3K30.18492868
124MAP3K140.18098513
125NEK60.17842562
126BLK0.17771008
127TAOK10.17575982
128PRKCG0.16086944
129CSNK2A10.16012323
130AKT30.15418459
131PRKAA10.14751716
132BMPR1B0.14598640
133CSK0.14527742
134MTOR0.12778143
135CAMKK10.12695087
136TYK20.12585935
137MST1R0.11217898
138RPS6KA40.10709398
139RPS6KB10.09924360
140MST40.09521031
141PRKCZ0.09357088
142ABL20.09238619
143PRKCD0.09204915
144YES10.08923716
145PAK40.08539646
146STK100.07769453
147LATS20.07637377
148EEF2K0.06743741
149PAK20.06709046
150PRKCQ0.06573533
151MAP2K60.04299282
152CDK60.04213066
153AURKA0.03523724
154ERN10.03275271
155CSNK2A20.03274545
156EGFR0.02664083
157PRKACG0.02158676
158AURKB0.02036802
159MATK0.01804298
160STK40.01795388
161CDK40.01757961
162RPS6KA10.01547400
163CSF1R0.01291016
164MAP4K10.01289960
165CDK20.00909007
166CDK10.00040230
167CDK3-0.0024492

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007505.77447782
2Base excision repair_Homo sapiens_hsa034103.64516294
3Glycolysis / Gluconeogenesis_Homo sapiens_hsa000103.50914033
4Pyruvate metabolism_Homo sapiens_hsa006203.20488777
5Basal transcription factors_Homo sapiens_hsa030223.17200194
6Primary immunodeficiency_Homo sapiens_hsa053402.88727054
7Fatty acid biosynthesis_Homo sapiens_hsa000612.78323359
8alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.76130527
9Pentose phosphate pathway_Homo sapiens_hsa000302.71501004
10Allograft rejection_Homo sapiens_hsa053302.67011763
11Intestinal immune network for IgA production_Homo sapiens_hsa046722.64834231
12Linoleic acid metabolism_Homo sapiens_hsa005912.52858740
13Ribosome_Homo sapiens_hsa030102.40346453
14Mismatch repair_Homo sapiens_hsa034302.37768327
15Fanconi anemia pathway_Homo sapiens_hsa034602.33310923
16Type I diabetes mellitus_Homo sapiens_hsa049402.28004362
17Autoimmune thyroid disease_Homo sapiens_hsa053202.27422688
18Dorso-ventral axis formation_Homo sapiens_hsa043202.06269499
19Glucagon signaling pathway_Homo sapiens_hsa049222.05319392
20Selenocompound metabolism_Homo sapiens_hsa004502.04083012
21Propanoate metabolism_Homo sapiens_hsa006402.00575066
22Huntingtons disease_Homo sapiens_hsa050161.95549981
23Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.91400335
24Oocyte meiosis_Homo sapiens_hsa041141.85944122
25Non-homologous end-joining_Homo sapiens_hsa034501.85699475
26RNA transport_Homo sapiens_hsa030131.79655913
27Proteasome_Homo sapiens_hsa030501.77082909
28Legionellosis_Homo sapiens_hsa051341.75517828
29Glutathione metabolism_Homo sapiens_hsa004801.74722230
30Glycerolipid metabolism_Homo sapiens_hsa005611.69783653
31Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.65030171
32Parkinsons disease_Homo sapiens_hsa050121.60489923
33Glycerophospholipid metabolism_Homo sapiens_hsa005641.59874024
34Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.58989856
35Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.57234708
36Peroxisome_Homo sapiens_hsa041461.55788011
37One carbon pool by folate_Homo sapiens_hsa006701.54264996
38Oxidative phosphorylation_Homo sapiens_hsa001901.53845829
39Arachidonic acid metabolism_Homo sapiens_hsa005901.53583354
40Antigen processing and presentation_Homo sapiens_hsa046121.51110972
41Fructose and mannose metabolism_Homo sapiens_hsa000511.49607180
42Leishmaniasis_Homo sapiens_hsa051401.46816879
43Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.41778550
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.41187611
45Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.36649115
46Carbohydrate digestion and absorption_Homo sapiens_hsa049731.34511839
47Cysteine and methionine metabolism_Homo sapiens_hsa002701.33971484
48Glycosaminoglycan degradation_Homo sapiens_hsa005311.33692793
49Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.32525186
50Ether lipid metabolism_Homo sapiens_hsa005651.30825566
51Collecting duct acid secretion_Homo sapiens_hsa049661.26007748
52Purine metabolism_Homo sapiens_hsa002301.25576045
53SNARE interactions in vesicular transport_Homo sapiens_hsa041301.24615095
54Fatty acid elongation_Homo sapiens_hsa000621.23724829
55PPAR signaling pathway_Homo sapiens_hsa033201.22665555
56Hematopoietic cell lineage_Homo sapiens_hsa046401.21587817
57Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.20390881
58Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.13253167
59mRNA surveillance pathway_Homo sapiens_hsa030151.13179088
60Carbon metabolism_Homo sapiens_hsa012001.07968359
61Pyrimidine metabolism_Homo sapiens_hsa002401.06832424
62RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.06569721
63Mineral absorption_Homo sapiens_hsa049781.06225752
64Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.04405916
65Cardiac muscle contraction_Homo sapiens_hsa042601.02700536
66Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.00307508
67Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.92598004
68Butanoate metabolism_Homo sapiens_hsa006500.91934009
69Steroid hormone biosynthesis_Homo sapiens_hsa001400.90355170
70Viral myocarditis_Homo sapiens_hsa054160.90279252
71Renin-angiotensin system_Homo sapiens_hsa046140.88382382
72Drug metabolism - other enzymes_Homo sapiens_hsa009830.88336966
73Phototransduction_Homo sapiens_hsa047440.87872390
74Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.86784776
75Fat digestion and absorption_Homo sapiens_hsa049750.86449847
76Tryptophan metabolism_Homo sapiens_hsa003800.84056453
77Salmonella infection_Homo sapiens_hsa051320.83906625
78Transcriptional misregulation in cancer_Homo sapiens_hsa052020.83797535
79Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.83706636
80Homologous recombination_Homo sapiens_hsa034400.83175151
81Rheumatoid arthritis_Homo sapiens_hsa053230.81460741
82Graft-versus-host disease_Homo sapiens_hsa053320.79443003
83Amphetamine addiction_Homo sapiens_hsa050310.76731240
84Phagosome_Homo sapiens_hsa041450.71623975
85Epstein-Barr virus infection_Homo sapiens_hsa051690.69710563
86Influenza A_Homo sapiens_hsa051640.69559673
87Olfactory transduction_Homo sapiens_hsa047400.67121025
88Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.66375951
89Alzheimers disease_Homo sapiens_hsa050100.66126074
90African trypanosomiasis_Homo sapiens_hsa051430.64385578
91Cell cycle_Homo sapiens_hsa041100.62634285
92Biosynthesis of amino acids_Homo sapiens_hsa012300.60431582
93Measles_Homo sapiens_hsa051620.59958927
94Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.58778371
95Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.56566670
96Platelet activation_Homo sapiens_hsa046110.55791536
97Asthma_Homo sapiens_hsa053100.55368822
98Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.53919138
99Regulation of autophagy_Homo sapiens_hsa041400.53443850
100Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.53430884
101RNA degradation_Homo sapiens_hsa030180.53405053
102Adipocytokine signaling pathway_Homo sapiens_hsa049200.51837734
103Herpes simplex infection_Homo sapiens_hsa051680.51607018
104Tuberculosis_Homo sapiens_hsa051520.51490391
105Caffeine metabolism_Homo sapiens_hsa002320.51225618
106Cyanoamino acid metabolism_Homo sapiens_hsa004600.50473019
107Renin secretion_Homo sapiens_hsa049240.50360762
108Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.50173497
109Endocytosis_Homo sapiens_hsa041440.48389182
110Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.47873356
111Nitrogen metabolism_Homo sapiens_hsa009100.47562598
112Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.44033164
113Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.43859648
114Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.43797546
115Folate biosynthesis_Homo sapiens_hsa007900.43755760
116Osteoclast differentiation_Homo sapiens_hsa043800.43660794
117Other glycan degradation_Homo sapiens_hsa005110.42895538
118Toxoplasmosis_Homo sapiens_hsa051450.42675797
119Fatty acid metabolism_Homo sapiens_hsa012120.41151722
120p53 signaling pathway_Homo sapiens_hsa041150.40399069
121Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39995317
122Fatty acid degradation_Homo sapiens_hsa000710.39843973
123B cell receptor signaling pathway_Homo sapiens_hsa046620.39658552
124Malaria_Homo sapiens_hsa051440.39274175
125Thyroid hormone synthesis_Homo sapiens_hsa049180.38719048
126Viral carcinogenesis_Homo sapiens_hsa052030.38618515
127Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.38274898
128Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38223470
129Central carbon metabolism in cancer_Homo sapiens_hsa052300.36237122
130Staphylococcus aureus infection_Homo sapiens_hsa051500.36099033
131Systemic lupus erythematosus_Homo sapiens_hsa053220.35897059
132Metabolic pathways_Homo sapiens_hsa011000.35860888
133Pentose and glucuronate interconversions_Homo sapiens_hsa000400.35835763
134Pertussis_Homo sapiens_hsa051330.33843840
135VEGF signaling pathway_Homo sapiens_hsa043700.33643968
136Tyrosine metabolism_Homo sapiens_hsa003500.32960364
137NF-kappa B signaling pathway_Homo sapiens_hsa040640.32410402
138Retinol metabolism_Homo sapiens_hsa008300.31827967
139Estrogen signaling pathway_Homo sapiens_hsa049150.31095150
140Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.31055954
1412-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.30983084
142DNA replication_Homo sapiens_hsa030300.28897492
143Inositol phosphate metabolism_Homo sapiens_hsa005620.28742742
144Jak-STAT signaling pathway_Homo sapiens_hsa046300.28551585
145NOD-like receptor signaling pathway_Homo sapiens_hsa046210.28505985
146Chemical carcinogenesis_Homo sapiens_hsa052040.28042847
147Nucleotide excision repair_Homo sapiens_hsa034200.27707992
148RNA polymerase_Homo sapiens_hsa030200.23111178
149Sphingolipid metabolism_Homo sapiens_hsa006000.22603837
150HIF-1 signaling pathway_Homo sapiens_hsa040660.21857758
151Spliceosome_Homo sapiens_hsa030400.21596996
152ABC transporters_Homo sapiens_hsa020100.21512689

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