CTCFL

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: CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synapsis (GO:0007129)5.66111358
2presynaptic membrane assembly (GO:0097105)5.58184017
3DNA replication checkpoint (GO:0000076)5.16049895
4postsynaptic membrane organization (GO:0001941)4.95011995
5positive regulation of protein kinase C signaling (GO:0090037)4.93839915
6presynaptic membrane organization (GO:0097090)4.75464098
7resolution of meiotic recombination intermediates (GO:0000712)4.60972043
8meiotic chromosome segregation (GO:0045132)4.57074282
9nuclear pore complex assembly (GO:0051292)4.51515776
10diterpenoid biosynthetic process (GO:0016102)4.37593948
11nuclear pore organization (GO:0006999)4.29893294
12short-term memory (GO:0007614)4.24001704
13axon ensheathment in central nervous system (GO:0032291)4.21828693
14central nervous system myelination (GO:0022010)4.21828693
15omega-hydroxylase P450 pathway (GO:0097267)4.14817455
16negative regulation of execution phase of apoptosis (GO:1900118)4.10428533
17protein heterotetramerization (GO:0051290)4.09238567
18intra-S DNA damage checkpoint (GO:0031573)3.89335784
19terpenoid biosynthetic process (GO:0016114)3.88675267
20melanin metabolic process (GO:0006582)3.88297577
21facial nerve structural organization (GO:0021612)3.79301869
22regulation of pigment cell differentiation (GO:0050932)3.73738133
23sensory perception of smell (GO:0007608)3.66929800
24ribosomal small subunit biogenesis (GO:0042274)3.64160395
25replication fork processing (GO:0031297)3.63307106
26centriole assembly (GO:0098534)3.57014613
27positive regulation of histone H3-K4 methylation (GO:0051571)3.56551996
28piRNA metabolic process (GO:0034587)3.55924719
29male meiosis (GO:0007140)3.52549769
30pore complex assembly (GO:0046931)3.50314267
31detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.50171455
32regulation of translational fidelity (GO:0006450)3.49850479
33negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.48702507
34vitamin A metabolic process (GO:0006776)3.45646435
35somatic hypermutation of immunoglobulin genes (GO:0016446)3.44817485
36somatic diversification of immune receptors via somatic mutation (GO:0002566)3.44817485
37DNA replication initiation (GO:0006270)3.44199497
38microtubule depolymerization (GO:0007019)3.43853144
39chromosome organization involved in meiosis (GO:0070192)3.43400111
40double-strand break repair via homologous recombination (GO:0000724)3.40003521
41cranial nerve morphogenesis (GO:0021602)3.38913966
42mesonephros development (GO:0001823)3.37798940
43regulation of timing of cell differentiation (GO:0048505)3.37722126
44melanin biosynthetic process (GO:0042438)3.37208006
45recombinational repair (GO:0000725)3.36108048
46mesenchymal cell differentiation involved in kidney development (GO:0072161)3.33048862
47mesenchymal cell differentiation involved in renal system development (GO:2001012)3.33048862
48proteasome assembly (GO:0043248)3.32317658
49superoxide anion generation (GO:0042554)3.32034093
50lymphoid progenitor cell differentiation (GO:0002320)3.31068841
51male meiosis I (GO:0007141)3.30403902
52mitotic nuclear envelope disassembly (GO:0007077)3.30004647
53gene silencing by RNA (GO:0031047)3.28560392
54centriole replication (GO:0007099)3.28304013
55response to folic acid (GO:0051593)3.26041411
56DNA ligation (GO:0006266)3.23160669
57viral transcription (GO:0019083)3.19115695
58regulation of centriole replication (GO:0046599)3.19062054
59regulation of development, heterochronic (GO:0040034)3.16376165
60DNA topological change (GO:0006265)3.14987041
61GTP biosynthetic process (GO:0006183)3.14283413
62limb bud formation (GO:0060174)3.14077132
63regulation of meiosis I (GO:0060631)3.13934465
64reciprocal DNA recombination (GO:0035825)3.13790184
65reciprocal meiotic recombination (GO:0007131)3.13790184
66phosphorelay signal transduction system (GO:0000160)3.12832991
67sister chromatid segregation (GO:0000819)3.12492871
68protein-cofactor linkage (GO:0018065)3.12075193
69righting reflex (GO:0060013)3.11310435
70cranial nerve structural organization (GO:0021604)3.11114865
71mitotic sister chromatid segregation (GO:0000070)3.10703882
72DNA double-strand break processing (GO:0000729)3.10564978
73positive regulation of cellular amine metabolic process (GO:0033240)3.09203456
74regulation of centrosome cycle (GO:0046605)3.08748229
75homocysteine metabolic process (GO:0050667)3.07210544
76gas transport (GO:0015669)3.06307727
77negative regulation of transcription by competitive promoter binding (GO:0010944)3.04140327
78GMP metabolic process (GO:0046037)3.04010304
79oxygen transport (GO:0015671)3.03520738
80isoprenoid biosynthetic process (GO:0008299)3.00047180
81tRNA aminoacylation for protein translation (GO:0006418)3.00021881
82folic acid-containing compound biosynthetic process (GO:0009396)2.98257906
83* DNA methylation involved in gamete generation (GO:0043046)2.97894677
84tRNA aminoacylation (GO:0043039)2.96825780
85amino acid activation (GO:0043038)2.96825780
86nucleobase biosynthetic process (GO:0046112)2.96640769
87organ growth (GO:0035265)2.96518483
88secondary metabolite biosynthetic process (GO:0044550)2.96398801
89translational termination (GO:0006415)2.96006882
90membrane disassembly (GO:0030397)2.93940078
91nuclear envelope disassembly (GO:0051081)2.93940078
92androgen biosynthetic process (GO:0006702)2.93305916
93endothelium development (GO:0003158)2.90650927
94respiratory chain complex IV assembly (GO:0008535)2.90599945
95GPI anchor biosynthetic process (GO:0006506)2.89261328
96developmental pigmentation (GO:0048066)2.89233239
97microtubule polymerization or depolymerization (GO:0031109)2.88363239
98regulation of histone H3-K9 methylation (GO:0051570)2.87162209
99protoporphyrinogen IX metabolic process (GO:0046501)2.86860932
100maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.86615735
101purine nucleobase biosynthetic process (GO:0009113)2.86233749
102DNA catabolic process, exonucleolytic (GO:0000738)2.85269653
103mismatch repair (GO:0006298)2.83986779
104mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.83869765
105erythrocyte maturation (GO:0043249)2.82255150
106kinetochore organization (GO:0051383)2.81942116
107tetrahydrofolate metabolic process (GO:0046653)2.81478897
108positive regulation of histone methylation (GO:0031062)2.81367285
109amino sugar catabolic process (GO:0046348)2.80446057
110protein K11-linked deubiquitination (GO:0035871)2.79111261
111valine metabolic process (GO:0006573)2.78296073
112rRNA catabolic process (GO:0016075)2.78153684
113regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.76976309
114DNA strand elongation involved in DNA replication (GO:0006271)2.76569375
115monoubiquitinated protein deubiquitination (GO:0035520)2.75368974
116negative regulation of histone methylation (GO:0031061)2.75141044
117cotranslational protein targeting to membrane (GO:0006613)2.74561914
118sphingoid metabolic process (GO:0046519)2.72488834
119SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.72476097
120negative regulation of keratinocyte proliferation (GO:0010839)2.72385352
121DNA damage induced protein phosphorylation (GO:0006975)2.70542766
122protein targeting to ER (GO:0045047)2.70380592
123* regulation of histone H3-K4 methylation (GO:0051569)2.69508497
124meiotic cell cycle (GO:0051321)2.68637744
125regulation of histone H3-K27 methylation (GO:0061085)2.68511675
126meiosis I (GO:0007127)2.68504962
127chromosome segregation (GO:0007059)2.68427493
128neuronal action potential propagation (GO:0019227)2.68008927
129regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.67669814
130regulation of mitotic spindle checkpoint (GO:1903504)2.67669814
131regulation of RNA export from nucleus (GO:0046831)2.67314535
132regulation of nuclear cell cycle DNA replication (GO:0033262)2.66914303
133DNA strand elongation (GO:0022616)2.66000197
134pseudouridine synthesis (GO:0001522)2.65611682
135ribosomal large subunit biogenesis (GO:0042273)2.65423933
136detection of chemical stimulus involved in sensory perception (GO:0050907)2.64291022
137ribosomal small subunit assembly (GO:0000028)2.63555242
138cytochrome complex assembly (GO:0017004)2.63530874
139regulation of translational elongation (GO:0006448)2.63388967
140sympathetic nervous system development (GO:0048485)2.63273154
141kinetochore assembly (GO:0051382)2.61805727
142meiotic cell cycle process (GO:1903046)2.61690700
143GPI anchor metabolic process (GO:0006505)2.60270813
144pattern specification involved in kidney development (GO:0061004)2.60254539
145RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.60151159
146regulation of protein kinase A signaling (GO:0010738)2.58860431
147negative regulation of myoblast differentiation (GO:0045662)2.57592261
148maturation of SSU-rRNA (GO:0030490)2.56967071
149mannosylation (GO:0097502)2.55945427
150establishment of protein localization to endoplasmic reticulum (GO:0072599)2.54894470
151protein localization to endoplasmic reticulum (GO:0070972)2.54811602
152DNA unwinding involved in DNA replication (GO:0006268)2.54065886
153centrosome organization (GO:0051297)2.53425639
154histone H2A acetylation (GO:0043968)2.53195444
155eyelid development in camera-type eye (GO:0061029)2.51886814
156cell differentiation involved in metanephros development (GO:0072202)2.51818060
157regulation of centrosome duplication (GO:0010824)2.51541509
158behavioral response to nicotine (GO:0035095)2.51074469
159S-adenosylmethionine metabolic process (GO:0046500)2.49572959
160oxidative phosphorylation (GO:0006119)2.49247777
161generation of neurons (GO:0048699)2.48771318
162protein prenylation (GO:0018342)2.48732246
163prenylation (GO:0097354)2.48732246
164neuron cell-cell adhesion (GO:0007158)2.48690294
165keratinocyte development (GO:0003334)2.48455216
166positive regulation of calcium ion import (GO:0090280)2.48177461
167regulation of DNA endoreduplication (GO:0032875)2.47959227
168positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.46596944
169protoporphyrinogen IX biosynthetic process (GO:0006782)2.45892838
170cornea development in camera-type eye (GO:0061303)2.43890174
171nephron epithelium development (GO:0072009)2.39221073
172C-terminal protein lipidation (GO:0006501)2.38313358
173negative regulation of leukocyte chemotaxis (GO:0002689)2.37436128
174photoreceptor cell maintenance (GO:0045494)2.37434829
175viral genome replication (GO:0019079)2.35872383
176regulation of protein kinase C signaling (GO:0090036)2.35301036
177mature B cell differentiation (GO:0002335)2.34972780
178retina layer formation (GO:0010842)2.34529530
179reflex (GO:0060004)2.32819950
180metanephric tubule development (GO:0072170)2.32369788
181metanephric nephron tubule development (GO:0072234)2.32369788
182transcription elongation from RNA polymerase III promoter (GO:0006385)2.32340596
183termination of RNA polymerase III transcription (GO:0006386)2.32340596
184negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.31437705
185DNA damage response, detection of DNA damage (GO:0042769)2.31337632
186cerebral cortex radially oriented cell migration (GO:0021799)2.30865184
187interkinetic nuclear migration (GO:0022027)2.29873450
188positive regulation of synapse assembly (GO:0051965)2.29798980
189DNA deamination (GO:0045006)2.29406240
190UTP biosynthetic process (GO:0006228)2.29371362
191oligodendrocyte differentiation (GO:0048709)2.28214955
192long-chain fatty acid biosynthetic process (GO:0042759)2.27922479
193preassembly of GPI anchor in ER membrane (GO:0016254)2.26705409
194regulation of mesenchymal cell apoptotic process (GO:2001053)2.26453271
195eye photoreceptor cell differentiation (GO:0001754)2.24894589
196photoreceptor cell differentiation (GO:0046530)2.24894589
197epithelial cilium movement (GO:0003351)2.24829049

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.64684483
2EZH2_22144423_ChIP-Seq_EOC_Human5.16472075
3SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.25415031
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.47038666
5E2F4_17652178_ChIP-ChIP_JURKAT_Human3.23026841
6GBX2_23144817_ChIP-Seq_PC3_Human3.13007993
7MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.01168225
8SALL1_21062744_ChIP-ChIP_HESCs_Human2.94671997
9ZNF274_21170338_ChIP-Seq_K562_Hela2.92529662
10PCGF2_27294783_Chip-Seq_ESCs_Mouse2.82450020
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.79472216
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.77778160
13FLI1_27457419_Chip-Seq_LIVER_Mouse2.70411282
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.67710975
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.66481622
16CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.64815313
17BMI1_23680149_ChIP-Seq_NPCS_Mouse2.55863979
18GABP_17652178_ChIP-ChIP_JURKAT_Human2.51162580
19JARID2_20064375_ChIP-Seq_MESCs_Mouse2.50310318
20TAF15_26573619_Chip-Seq_HEK293_Human2.47709049
21CBX2_27304074_Chip-Seq_ESCs_Mouse2.38162517
22SUZ12_27294783_Chip-Seq_NPCs_Mouse2.25909670
23ETS1_20019798_ChIP-Seq_JURKAT_Human2.25241280
24EZH2_27304074_Chip-Seq_ESCs_Mouse2.21930269
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.19837533
26TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.19079246
27BP1_19119308_ChIP-ChIP_Hs578T_Human2.18692547
28FOXM1_23109430_ChIP-Seq_U2OS_Human2.16014903
29NFE2_27457419_Chip-Seq_LIVER_Mouse2.15344618
30ELK1_19687146_ChIP-ChIP_HELA_Human2.15144900
31PCGF2_27294783_Chip-Seq_NPCs_Mouse2.05781346
32VDR_23849224_ChIP-Seq_CD4+_Human2.02808098
33IGF1R_20145208_ChIP-Seq_DFB_Human1.98275540
34IRF1_19129219_ChIP-ChIP_H3396_Human1.97715662
35RNF2_27304074_Chip-Seq_NSC_Mouse1.95536469
36JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.95157958
37SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.90290934
38FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.89492479
39POU3F2_20337985_ChIP-ChIP_501MEL_Human1.85829785
40VDR_22108803_ChIP-Seq_LS180_Human1.85320579
41POU5F1_16153702_ChIP-ChIP_HESCs_Human1.84555974
42SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.84545522
43CREB1_15753290_ChIP-ChIP_HEK293T_Human1.84483863
44EZH2_27294783_Chip-Seq_NPCs_Mouse1.83860357
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.81304796
46FOXP3_21729870_ChIP-Seq_TREG_Human1.78437116
47EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.77333518
48GATA1_19941826_ChIP-Seq_K562_Human1.75684710
49RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.74334378
50KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.74069404
51JARID2_20075857_ChIP-Seq_MESCs_Mouse1.73371624
52NANOG_18555785_Chip-Seq_ESCs_Mouse1.69870471
53SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.69610326
54GATA1_22025678_ChIP-Seq_K562_Human1.69415540
55* EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.66735436
56EZH2_18974828_ChIP-Seq_MESCs_Mouse1.66099672
57RNF2_18974828_ChIP-Seq_MESCs_Mouse1.66099672
58* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.65885008
59SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.64693443
60* P53_22387025_ChIP-Seq_ESCs_Mouse1.63123123
61MYC_18940864_ChIP-ChIP_HL60_Human1.61358773
62SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.60710428
63* NMYC_18555785_Chip-Seq_ESCs_Mouse1.60504528
64SRF_21415370_ChIP-Seq_HL-1_Mouse1.60375030
65* P300_18555785_Chip-Seq_ESCs_Mouse1.59727448
66* STAT3_18555785_Chip-Seq_ESCs_Mouse1.59298740
67PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.59270705
68* E2F1_18555785_Chip-Seq_ESCs_Mouse1.59167024
69* RUNX1_27457419_Chip-Seq_LIVER_Mouse1.56868965
70P300_19829295_ChIP-Seq_ESCs_Human1.53675394
71TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.52622623
72E2F1_21310950_ChIP-Seq_MCF-7_Human1.50538605
73EZH2_27294783_Chip-Seq_ESCs_Mouse1.49936418
74CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.48101645
75OCT4_18555785_Chip-Seq_ESCs_Mouse1.45610730
76* CMYC_18555785_Chip-Seq_ESCs_Mouse1.44463314
77NCOR1_26117541_ChIP-Seq_K562_Human1.44073670
78PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43567646
79CTBP1_25329375_ChIP-Seq_LNCAP_Human1.42435814
80FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.42190466
81* ZFX_18555785_Chip-Seq_ESCs_Mouse1.40624111
82* SOX2_18555785_Chip-Seq_ESCs_Mouse1.40241199
83YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.39822268
84SUZ12_27294783_Chip-Seq_ESCs_Mouse1.39813051
85AR_21572438_ChIP-Seq_LNCaP_Human1.39392449
86FUS_26573619_Chip-Seq_HEK293_Human1.38332287
87CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37396302
88* ER_23166858_ChIP-Seq_MCF-7_Human1.36797494
89TP53_22573176_ChIP-Seq_HFKS_Human1.36788007
90PADI4_21655091_ChIP-ChIP_MCF-7_Human1.36649006
91* KLF4_18555785_Chip-Seq_ESCs_Mouse1.35387987
92KDM5A_27292631_Chip-Seq_BREAST_Human1.35169172
93PHF8_20622853_ChIP-Seq_HELA_Human1.33551438
94GATA2_19941826_ChIP-Seq_K562_Human1.32933570
95CTBP2_25329375_ChIP-Seq_LNCAP_Human1.32744676
96PU1_27457419_Chip-Seq_LIVER_Mouse1.32684266
97TAL1_26923725_Chip-Seq_HPCs_Mouse1.32178486
98* SMAD1_18555785_Chip-Seq_ESCs_Mouse1.30892155
99MYC_18555785_ChIP-Seq_MESCs_Mouse1.30201407
100RNF2_27304074_Chip-Seq_ESCs_Mouse1.29325950
101* ESRRB_18555785_Chip-Seq_ESCs_Mouse1.29029524
102DCP1A_22483619_ChIP-Seq_HELA_Human1.28389618
103TTF2_22483619_ChIP-Seq_HELA_Human1.28079543
104CRX_20693478_ChIP-Seq_RETINA_Mouse1.27937828
105EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.27511106
106MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.27356500
107HOXB4_20404135_ChIP-ChIP_EML_Mouse1.27348937
108ETV1_20927104_ChIP-Seq_GIST48_Human1.27340618
109PIAS1_25552417_ChIP-Seq_VCAP_Human1.26783459
110* CTCF_18555785_Chip-Seq_ESCs_Mouse1.26763360
111RBPJ_22232070_ChIP-Seq_NCS_Mouse1.25857855
112ELF1_17652178_ChIP-ChIP_JURKAT_Human1.24665859
113E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.23520720
114HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.23167989
115KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.23115103
116KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.23115103
117KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.23115103
118GATA6_21074721_ChIP-Seq_CACO-2_Human1.21060270
119CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20830142
120RBPJ_21746931_ChIP-Seq_IB4_Human1.20734080
121PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.19194820
122NFYB_21822215_ChIP-Seq_K562_Human1.18009173
123CBX2_22325352_ChIP-Seq_293T-Rex_Human1.16092538
124SMAD3_21741376_ChIP-Seq_EPCs_Human1.15562382
125GABP_19822575_ChIP-Seq_HepG2_Human1.15287790
126CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.15230390
127CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.15215238
128OCT4_21477851_ChIP-Seq_ESCs_Mouse1.14318140
129GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.13473782
130MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.13417019
131PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.12915185
132TCF4_23295773_ChIP-Seq_U87_Human1.11788982
133* STAT3_23295773_ChIP-Seq_U87_Human1.11277576
134SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.10832193
135MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.10781840
136NOTCH1_21737748_ChIP-Seq_TLL_Human1.09604896
137SMAD_19615063_ChIP-ChIP_OVARY_Human1.09220010
138PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.08481333
139LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.08251587
140CIITA_25753668_ChIP-Seq_RAJI_Human1.08231989
141THAP11_20581084_ChIP-Seq_MESCs_Mouse1.07609420
142HNFA_21074721_ChIP-Seq_CACO-2_Human1.07173773
143MYC_18358816_ChIP-ChIP_MESCs_Mouse1.07061410
144LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.06861315
145RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.06744065
146SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.05037637
147MTF2_20144788_ChIP-Seq_MESCs_Mouse1.03449449
148TP53_18474530_ChIP-ChIP_U2OS_Human1.03240707
149SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.03077194
150CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.01895567
151EWS_26573619_Chip-Seq_HEK293_Human1.01883068
152PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.01524310
153CBP_20019798_ChIP-Seq_JUKART_Human1.01430903
154IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.01430903
155MYC_19030024_ChIP-ChIP_MESCs_Mouse1.01402324
156NFYA_21822215_ChIP-Seq_K562_Human1.01348868
157FOXA1_27270436_Chip-Seq_PROSTATE_Human1.00089970
158FOXA1_25329375_ChIP-Seq_VCAP_Human1.00089970
159JUN_21703547_ChIP-Seq_K562_Human1.00032120
160GATA3_21878914_ChIP-Seq_MCF-7_Human0.99823229
161* KDM2B_26808549_Chip-Seq_REH_Human0.99484624
162SMAD4_21799915_ChIP-Seq_A2780_Human0.99187656
163TOP2B_26459242_ChIP-Seq_MCF-7_Human0.98920684
164RUNX2_22187159_ChIP-Seq_PCA_Human0.98287482
165UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97998611
166XRN2_22483619_ChIP-Seq_HELA_Human0.97032704
167OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96788694
168CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.95621755
169NCOR_22424771_ChIP-Seq_293T_Human0.95411382
170HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.95145766
171SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.95074405
172CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.93756657
173TBL1_22424771_ChIP-Seq_293T_Human0.92924129
174NANOG_19829295_ChIP-Seq_ESCs_Human0.90795540
175SOX2_19829295_ChIP-Seq_ESCs_Human0.90795540
176KLF5_20875108_ChIP-Seq_MESCs_Mouse0.90551317
177GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.89511501
178FOXA1_21572438_ChIP-Seq_LNCaP_Human0.88813108
179TP63_19390658_ChIP-ChIP_HaCaT_Human0.86888957
180GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.85606622

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color7.47540955
2MP0001188_hyperpigmentation5.46262828
3MP0005409_darkened_coat_color5.14351474
4MP0004381_abnormal_hair_follicle4.56850475
5MP0004147_increased_porphyrin_level4.34220774
6MP0009379_abnormal_foot_pigmentation4.16015318
7MP0008058_abnormal_DNA_repair3.64537545
8MP0006292_abnormal_olfactory_placode3.62339935
9MP0010094_abnormal_chromosome_stability3.13721782
10MP0008057_abnormal_DNA_replication3.12484783
11MP0005174_abnormal_tail_pigmentation2.99933783
12MP0008877_abnormal_DNA_methylation2.86861463
13MP0000015_abnormal_ear_pigmentation2.81999641
14MP0003880_abnormal_central_pattern2.63069784
15MP0000566_synostosis2.55076620
16MP0002102_abnormal_ear_morphology2.43635978
17MP0009697_abnormal_copulation2.34749963
18MP0003693_abnormal_embryo_hatching2.31545590
19MP0003724_increased_susceptibility_to2.23006282
20MP0003111_abnormal_nucleus_morphology2.22733736
21MP0004957_abnormal_blastocyst_morpholog2.14641020
22MP0003646_muscle_fatigue2.07845423
23MP0004145_abnormal_muscle_electrophysio2.07839245
24MP0002277_abnormal_respiratory_mucosa2.01564638
25MP0003656_abnormal_erythrocyte_physiolo1.92984276
26MP0001986_abnormal_taste_sensitivity1.79785293
27* MP0001929_abnormal_gametogenesis1.73721413
28MP0004043_abnormal_pH_regulation1.71196030
29MP0000678_abnormal_parathyroid_gland1.67447543
30MP0002876_abnormal_thyroid_physiology1.66664679
31* MP0002210_abnormal_sex_determination1.63076348
32MP0005171_absent_coat_pigmentation1.58558065
33MP0004742_abnormal_vestibular_system1.57111412
34MP0002638_abnormal_pupillary_reflex1.54282067
35MP0006035_abnormal_mitochondrial_morpho1.53824798
36MP0005083_abnormal_biliary_tract1.49694494
37MP0002095_abnormal_skin_pigmentation1.49183211
38MP0006036_abnormal_mitochondrial_physio1.49138607
39MP0003938_abnormal_ear_development1.48757841
40MP0005410_abnormal_fertilization1.48360765
41MP0008932_abnormal_embryonic_tissue1.45478975
42MP0003950_abnormal_plasma_membrane1.45038135
43MP0001968_abnormal_touch/_nociception1.44509777
44MP0003077_abnormal_cell_cycle1.43625215
45MP0002177_abnormal_outer_ear1.43504936
46* MP0003698_abnormal_male_reproductive1.43286273
47MP0008260_abnormal_autophagy1.41563471
48MP0003941_abnormal_skin_development1.40907695
49MP0000372_irregular_coat_pigmentation1.39599729
50MP0000049_abnormal_middle_ear1.38667654
51MP0005075_abnormal_melanosome_morpholog1.36848921
52MP0003195_calcinosis1.34119847
53MP0002249_abnormal_larynx_morphology1.34058024
54MP0004142_abnormal_muscle_tone1.34006158
55MP0000569_abnormal_digit_pigmentation1.33466365
56MP0001545_abnormal_hematopoietic_system1.32291503
57MP0005397_hematopoietic_system_phenotyp1.32291503
58MP0008775_abnormal_heart_ventricle1.31300833
59MP0008007_abnormal_cellular_replicative1.31054081
60MP0000026_abnormal_inner_ear1.29806699
61MP0003315_abnormal_perineum_morphology1.27403825
62MP0006276_abnormal_autonomic_nervous1.26897929
63* MP0000653_abnormal_sex_gland1.24451966
64MP0008872_abnormal_physiological_respon1.21716791
65MP0003011_delayed_dark_adaptation1.20494223
66* MP0001145_abnormal_male_reproductive1.20339683
67MP0001486_abnormal_startle_reflex1.18966726
68MP0005636_abnormal_mineral_homeostasis1.16514583
69MP0002751_abnormal_autonomic_nervous1.14977745
70MP0001529_abnormal_vocalization1.12044975
71MP0001346_abnormal_lacrimal_gland1.09115357
72MP0003718_maternal_effect1.08802224
73MP0010307_abnormal_tumor_latency1.07726989
74MP0005645_abnormal_hypothalamus_physiol1.07509376
75MP0000579_abnormal_nail_morphology1.06766616
76MP0000613_abnormal_salivary_gland1.06485467
77MP0001764_abnormal_homeostasis1.05416920
78MP0008995_early_reproductive_senescence1.04793797
79MP0003959_abnormal_lean_body1.01756413
80MP0002234_abnormal_pharynx_morphology1.01579499
81MP0003890_abnormal_embryonic-extraembry0.99406211
82MP0000631_abnormal_neuroendocrine_gland0.97144745
83MP0005395_other_phenotype0.96651266
84MP0005379_endocrine/exocrine_gland_phen0.96537006
85MP0001963_abnormal_hearing_physiology0.95928304
86MP0005423_abnormal_somatic_nervous0.94567392
87MP0000647_abnormal_sebaceous_gland0.93427514
88MP0002148_abnormal_hypersensitivity_rea0.92864807
89MP0002163_abnormal_gland_morphology0.92492259
90MP0001905_abnormal_dopamine_level0.92412609
91MP0003699_abnormal_female_reproductive0.92187198
92MP0005671_abnormal_response_to0.91486830
93MP0002161_abnormal_fertility/fecundity0.91201728
94MP0002938_white_spotting0.91147697
95MP0002837_dystrophic_cardiac_calcinosis0.90132263
96MP0001873_stomach_inflammation0.89697330
97MP0000681_abnormal_thyroid_gland0.89424198
98MP0002132_abnormal_respiratory_system0.88530506
99MP0001501_abnormal_sleep_pattern0.88216098
100MP0000427_abnormal_hair_cycle0.87738678
101MP0002009_preneoplasia0.87583592
102MP0005551_abnormal_eye_electrophysiolog0.87474131
103MP0004885_abnormal_endolymph0.87253646
104MP0002067_abnormal_sensory_capabilities0.87062255
105MP0003567_abnormal_fetal_cardiomyocyte0.86320380
106MP0003806_abnormal_nucleotide_metabolis0.85801472
107MP0001697_abnormal_embryo_size0.83904659
108MP0003186_abnormal_redox_activity0.83683086
109MP0001502_abnormal_circadian_rhythm0.82737496
110MP0009785_altered_susceptibility_to0.82705722
111MP0001119_abnormal_female_reproductive0.82189942
112MP0009250_abnormal_appendicular_skeleto0.81369473
113MP0002272_abnormal_nervous_system0.80325287
114MP0005332_abnormal_amino_acid0.80219997
115MP0001485_abnormal_pinna_reflex0.79875647
116MP0002396_abnormal_hematopoietic_system0.79620738
117MP0002160_abnormal_reproductive_system0.79579815
118MP0008789_abnormal_olfactory_epithelium0.79076196
119MP0002752_abnormal_somatic_nervous0.76199860
120MP0005266_abnormal_metabolism0.75522690
121MP0006072_abnormal_retinal_apoptosis0.75026446
122MP0001919_abnormal_reproductive_system0.74729005
123MP0001970_abnormal_pain_threshold0.73324189
124MP0002557_abnormal_social/conspecific_i0.71976169
125MP0001661_extended_life_span0.71517556
126MP0003937_abnormal_limbs/digits/tail_de0.71342668
127MP0004019_abnormal_vitamin_homeostasis0.71306601
128MP0009745_abnormal_behavioral_response0.69572012
129MP0000358_abnormal_cell_content/0.69287291
130MP0004085_abnormal_heartbeat0.68752124
131MP0005253_abnormal_eye_physiology0.68707745
132MP0005000_abnormal_immune_tolerance0.68609333
133MP0005084_abnormal_gallbladder_morpholo0.68324457
134MP0000920_abnormal_myelination0.68206488
135MP0002229_neurodegeneration0.67891817
136MP0009764_decreased_sensitivity_to0.67651023
137MP0005257_abnormal_intraocular_pressure0.67643150
138MP0000778_abnormal_nervous_system0.67637959
139MP0001835_abnormal_antigen_presentation0.67150427
140MP0005646_abnormal_pituitary_gland0.67009707
141MP0008770_decreased_survivor_rate0.65595436
142MP0002735_abnormal_chemical_nociception0.65237154
143MP0005647_abnormal_sex_gland0.64364133
144MP0000313_abnormal_cell_death0.64361262
145MP0000762_abnormal_tongue_morphology0.64119407
146MP0001186_pigmentation_phenotype0.63769095
147MP0000383_abnormal_hair_follicle0.62916240
148MP0009046_muscle_twitch0.62543408
149MP0001664_abnormal_digestion0.61909642
150MP0001672_abnormal_embryogenesis/_devel0.60823643
151MP0001663_abnormal_digestive_system0.60462550
152MP0005451_abnormal_body_composition0.59752124
153MP0005025_abnormal_response_to0.59618000
154MP0003786_premature_aging0.59614551
155MP0005595_abnormal_vascular_smooth0.59581997
156MP0000467_abnormal_esophagus_morphology0.59496730
157MP0002098_abnormal_vibrissa_morphology0.58388194
158MP0001853_heart_inflammation0.57935096
159MP0003828_pulmonary_edema0.57651049
160MP0001286_abnormal_eye_development0.57325953
161MP0002734_abnormal_mechanical_nocicepti0.56052376
162MP0003763_abnormal_thymus_physiology0.56035521
163MP0005408_hypopigmentation0.53536802
164MP0005381_digestive/alimentary_phenotyp0.53137358
165MP0005165_increased_susceptibility_to0.53029334
166MP0002736_abnormal_nociception_after0.52934243
167MP0001340_abnormal_eyelid_morphology0.50976223
168MP0005389_reproductive_system_phenotype0.50696339

Predicted human phenotypes

RankGene SetZ-score
1Abnormal gallbladder physiology (HP:0012438)4.45120812
2Cholecystitis (HP:0001082)4.45120812
3Sex reversal (HP:0012245)4.44529482
4Abnormal sex determination (HP:0012244)4.44529482
5Abnormality of secondary sexual hair (HP:0009888)4.34471276
6Abnormality of the axillary hair (HP:0100134)4.34471276
7Truncus arteriosus (HP:0001660)4.19878900
8Hyperthyroidism (HP:0000836)3.69573684
9Birth length less than 3rd percentile (HP:0003561)3.67915088
10Type I transferrin isoform profile (HP:0003642)3.53525858
11Thyroid-stimulating hormone excess (HP:0002925)3.31353650
12Reduced antithrombin III activity (HP:0001976)3.29304293
13Pancreatic cysts (HP:0001737)3.12458015
14Split foot (HP:0001839)3.09891382
15Septo-optic dysplasia (HP:0100842)3.05359834
16Abnormality of homocysteine metabolism (HP:0010919)3.04054769
17Homocystinuria (HP:0002156)3.04054769
18Abnormality of the heme biosynthetic pathway (HP:0010472)3.00784364
19Reticulocytosis (HP:0001923)2.99035375
20Ileus (HP:0002595)2.94279222
21Parakeratosis (HP:0001036)2.88156267
22Pancreatic fibrosis (HP:0100732)2.87818077
23Attenuation of retinal blood vessels (HP:0007843)2.84788913
24Aplasia/Hypoplasia of the uvula (HP:0010293)2.84434660
25Optic nerve hypoplasia (HP:0000609)2.83977774
26Dynein arm defect of respiratory motile cilia (HP:0012255)2.83677224
27Absent/shortened dynein arms (HP:0200106)2.83677224
28Nonprogressive disorder (HP:0003680)2.76381858
29Hypothermia (HP:0002045)2.74848825
30Absent septum pellucidum (HP:0001331)2.73723382
31Reticulocytopenia (HP:0001896)2.73682501
32Abnormal ciliary motility (HP:0012262)2.72873823
333-Methylglutaconic aciduria (HP:0003535)2.68625508
34Aplasia/Hypoplasia of the sacrum (HP:0008517)2.65903318
35Optic disc pallor (HP:0000543)2.65523055
36Abnormality of the renal cortex (HP:0011035)2.64936930
37Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.64179339
38Abnormality of the septum pellucidum (HP:0007375)2.61837525
39Absent rod-and cone-mediated responses on ERG (HP:0007688)2.60817839
40Abnormality of reticulocytes (HP:0004312)2.59243301
41Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.58247049
42Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.57214265
43Chromosomal breakage induced by crosslinking agents (HP:0003221)2.56096413
44Renal Fanconi syndrome (HP:0001994)2.54226699
45Increased hepatocellular lipid droplets (HP:0006565)2.53152013
46Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.48078068
47Congenital stationary night blindness (HP:0007642)2.47775923
48Poikilocytosis (HP:0004447)2.47612012
49Abnormality of the labia minora (HP:0012880)2.45701458
50Abnormal biliary tract physiology (HP:0012439)2.43101244
51Bile duct proliferation (HP:0001408)2.43101244
52Bowel incontinence (HP:0002607)2.40861156
53Abnormality of chromosome stability (HP:0003220)2.40754974
54Abnormality of DNA repair (HP:0003254)2.38807249
55Abnormality of cochlea (HP:0000375)2.37442934
56Renal cortical cysts (HP:0000803)2.35426733
57Abnormality of the pons (HP:0007361)2.34966941
58Abnormal respiratory epithelium morphology (HP:0012253)2.34405538
59Abnormal respiratory motile cilium morphology (HP:0005938)2.34405538
60Type II lissencephaly (HP:0007260)2.34207501
61Nephronophthisis (HP:0000090)2.34170246
62Acute myeloid leukemia (HP:0004808)2.32746181
63Dry hair (HP:0011359)2.32523571
64Patchy hypopigmentation of hair (HP:0011365)2.32459348
65Abnormality of midbrain morphology (HP:0002418)2.31944640
66Molar tooth sign on MRI (HP:0002419)2.31944640
67Concave nail (HP:0001598)2.31223707
68Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.28977282
69Abnormal large intestine physiology (HP:0012700)2.28537089
70Abnormal respiratory motile cilium physiology (HP:0012261)2.28062099
71Obstructive sleep apnea (HP:0002870)2.27141469
72Short tibia (HP:0005736)2.26820873
73Aplasia/Hypoplasia of the tibia (HP:0005772)2.26537779
74White forelock (HP:0002211)2.26167038
75Stomatitis (HP:0010280)2.24614879
76Duodenal stenosis (HP:0100867)2.23686041
77Small intestinal stenosis (HP:0012848)2.23686041
78Chronic obstructive pulmonary disease (HP:0006510)2.23582674
79Obstructive lung disease (HP:0006536)2.23582674
80Male pseudohermaphroditism (HP:0000037)2.23203643
81Chromsome breakage (HP:0040012)2.22199814
82Aplasia/hypoplasia of the uterus (HP:0008684)2.21983777
83Abnormal hemoglobin (HP:0011902)2.21644489
84Hypoplasia of the pons (HP:0012110)2.21105915
85Upper limb muscle weakness (HP:0003484)2.20093145
86Polycythemia (HP:0001901)2.19883271
87Abnormality of the ileum (HP:0001549)2.17004129
88Decreased central vision (HP:0007663)2.15800923
89Aplasia/Hypoplasia of the earlobes (HP:0009906)2.14863712
90True hermaphroditism (HP:0010459)2.14148762
91Gaze-evoked nystagmus (HP:0000640)2.13735228
92Seborrheic dermatitis (HP:0001051)2.13542431
93Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.12621812
94Abnormal protein N-linked glycosylation (HP:0012347)2.12621812
95Abnormal protein glycosylation (HP:0012346)2.12621812
96Abnormal glycosylation (HP:0012345)2.12621812
97Conical tooth (HP:0000698)2.10884283
98Abnormality of magnesium homeostasis (HP:0004921)2.10381419
99Abnormality of the renal medulla (HP:0100957)2.10140270
100Myelodysplasia (HP:0002863)2.09493901
101Duplicated collecting system (HP:0000081)2.08547026
102Hypertensive crisis (HP:0100735)2.07811423
103Severe visual impairment (HP:0001141)2.07141859
104Sloping forehead (HP:0000340)2.05377398
105Acute encephalopathy (HP:0006846)2.03710980
106Nasolacrimal duct obstruction (HP:0000579)2.03402713
107Supernumerary spleens (HP:0009799)2.03010252
108Cerebellar dysplasia (HP:0007033)2.02229882
109Aplasia cutis congenita (HP:0001057)2.02079190
110Hyperalaninemia (HP:0003348)2.01740787
111Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.01740787
112Abnormality of alanine metabolism (HP:0010916)2.01740787
113Mitochondrial inheritance (HP:0001427)2.01455195
114Macrocytic anemia (HP:0001972)2.01296820
115Congenital sensorineural hearing impairment (HP:0008527)2.01249164
116Hypoplasia of the radius (HP:0002984)2.00850950
117Focal motor seizures (HP:0011153)2.00506215
118Agammaglobulinemia (HP:0004432)1.98851454
119Triphalangeal thumb (HP:0001199)1.96665901
120Exertional dyspnea (HP:0002875)1.94490433
121Acute necrotizing encephalopathy (HP:0006965)1.93619697
122Abnormality of renal resorption (HP:0011038)1.93212550
123Lipid accumulation in hepatocytes (HP:0006561)1.92971158
124Ankyloglossia (HP:0010296)1.92762704
125Prolonged partial thromboplastin time (HP:0003645)1.92572987
126Abnormality of cells of the erythroid lineage (HP:0012130)1.92466293
127Abnormality of the renal collecting system (HP:0004742)1.92433388
128Ectopic kidney (HP:0000086)1.91594522
129Tinnitus (HP:0000360)1.91466251
130Limb hypertonia (HP:0002509)1.91403447
131Duplication of thumb phalanx (HP:0009942)1.89319649
132Abnormality of the preputium (HP:0100587)1.88753939
133Hypomagnesemia (HP:0002917)1.88346459
134Anomalous pulmonary venous return (HP:0010772)1.88255319
135Abnormality of sulfur amino acid metabolism (HP:0004339)1.86973628
136Abnormality of the pulmonary veins (HP:0011718)1.86177220
137Central scotoma (HP:0000603)1.85489811
138Cortical dysplasia (HP:0002539)1.85426720
139Morphological abnormality of the inner ear (HP:0011390)1.85176720
140Hypoplastic labia majora (HP:0000059)1.85026442
141Meningitis (HP:0001287)1.84956481
142Small hand (HP:0200055)1.84317993
143Abnormality of the duodenum (HP:0002246)1.83564666
144Cholelithiasis (HP:0001081)1.83459275
145Gonadal dysgenesis (HP:0000133)1.83133148
146Oculomotor apraxia (HP:0000657)1.83069355
147Increased CSF lactate (HP:0002490)1.82985831
148Hypoplasia of the fovea (HP:0007750)1.82605317
149Aplasia/Hypoplasia of the fovea (HP:0008060)1.82605317
150Prominent nasal bridge (HP:0000426)1.81990185
151Volvulus (HP:0002580)1.81531315
152Hypoparathyroidism (HP:0000829)1.80771437
153Patellar aplasia (HP:0006443)1.80201979
154Abnormal number of erythroid precursors (HP:0012131)1.79967673
155Protruding tongue (HP:0010808)1.79670346
156Meckel diverticulum (HP:0002245)1.78496530
157Abnormal rod and cone electroretinograms (HP:0008323)1.77805764
158Sclerocornea (HP:0000647)1.77727023
159Microvesicular hepatic steatosis (HP:0001414)1.77179317
160Partial duplication of thumb phalanx (HP:0009944)1.76445892
161Medial flaring of the eyebrow (HP:0010747)1.76440754
162Prolonged neonatal jaundice (HP:0006579)1.76315296
163Abnormality of the carotid arteries (HP:0005344)1.75494539
164Hepatocellular necrosis (HP:0001404)1.75150215
165Median cleft lip (HP:0000161)1.74962433
166Hypophosphatemic rickets (HP:0004912)1.74436280
167Abnormal gallbladder morphology (HP:0012437)1.74032660
168Recurrent cutaneous fungal infections (HP:0011370)1.74007447
169Chronic mucocutaneous candidiasis (HP:0002728)1.74007447
170Pallor (HP:0000980)1.73785475
171Progressive macrocephaly (HP:0004481)1.73284194
172Clubbing of toes (HP:0100760)1.73201097
173Cystic liver disease (HP:0006706)1.72964852
174Aplasia/Hypoplasia of the patella (HP:0006498)1.72823257
175Furrowed tongue (HP:0000221)1.72778788
176Abnormal mitochondria in muscle tissue (HP:0008316)1.72665157
177Joint hemorrhage (HP:0005261)1.72010543
178Alacrima (HP:0000522)1.71219666
179Abnormality of the labia majora (HP:0012881)1.70959474
180Increased serum lactate (HP:0002151)1.69557659
181Hypoplastic iliac wings (HP:0002866)1.67689943
182Acanthocytosis (HP:0001927)1.64981386
183Large for gestational age (HP:0001520)1.64841016

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK6.98350055
2MKNK24.88318742
3FRK4.42083741
4TNIK3.73332722
5TLK13.20301378
6EIF2AK12.95182901
7NTRK32.95150568
8MKNK12.88121684
9TTK2.76023568
10STK162.61269954
11MUSK2.56447690
12BRSK22.51973457
13NME22.18417237
14IRAK32.16519961
15WEE12.14463122
16BLK2.08203737
17CLK12.05199650
18CDC72.00865332
19IRAK41.93547765
20MAP3K41.93127059
21KSR21.83973139
22NLK1.83182171
23RAF11.68037431
24SRPK11.65608436
25MAP4K21.60842410
26MAP3K21.60060383
27FES1.57814323
28CCNB11.51263039
29KSR11.49288767
30TXK1.40617082
31EIF2AK21.39186613
32STK31.35187600
33YES11.33663635
34IRAK21.31732759
35IRAK11.30930371
36ADRBK21.30629469
37STK391.28401665
38NEK21.26664434
39PBK1.24840978
40CHEK21.23557614
41EEF2K1.22013792
42BMPR1B1.19522483
43NEK11.19464839
44EIF2AK31.17030932
45ATR1.14448845
46PRKD21.14445932
47TSSK61.14055136
48WNK31.13467508
49PDK21.13341387
50PLK31.12923895
51TEC1.12550926
52PKN11.12258780
53MAP2K71.12241959
54CDK191.10842638
55MAP3K141.07803034
56INSRR1.07516958
57MAPK131.07451882
58GRK71.07427671
59PRPF4B1.06643537
60GRK11.05865356
61VRK11.05723477
62ACVR1B1.04686912
63TRPM71.03046483
64BMPR21.02144631
65MST40.99427299
66CDK30.94868380
67PIK3CG0.93618779
68BUB10.91409754
69ATM0.89904757
70NEK60.88634649
71OXSR10.87130555
72MAPK150.86654352
73PLK10.85532301
74PHKG20.85126004
75PHKG10.85126004
76TRIM280.84491140
77BRSK10.83951775
78PLK20.83718530
79PNCK0.75872570
80CHEK10.74771030
81MAP2K10.74278191
82ZAK0.72357518
83MAPKAPK30.70835690
84MARK30.69311029
85BMX0.68526685
86RPS6KA50.68464544
87DYRK1A0.67665848
88UHMK10.67146932
89IKBKB0.66350050
90CDK10.65733905
91DYRK20.65626091
92PIM20.63571634
93CSNK1G10.63554184
94MAP3K80.62852041
95TIE10.61467480
96CAMK2B0.61072109
97CAMK10.59058000
98FGR0.57733892
99WNK10.57230255
100IKBKE0.56986394
101MAPKAPK50.56144237
102CDK20.54406322
103AKT30.53968561
104PIM10.53519468
105ERBB30.52503202
106NME10.51585159
107STK40.51577969
108CSNK1E0.51360636
109MAP3K120.50990251
110RPS6KB20.50746459
111PTK2B0.49193224
112TNK20.48826505
113LYN0.48688706
114EPHA30.48469683
115CSK0.46551010
116JAK20.45282282
117TAOK30.45033310
118CDK80.44526049
119PRKAA10.42873038
120PRKG10.42286243
121RIPK40.41271986
122CAMK2A0.41052648
123PRKCE0.40561460
124CSNK2A20.39444471
125KIT0.39431201
126MAP3K10.35776674
127PRKAA20.35457269
128GSK3B0.34955792
129MAP3K70.34790461
130DYRK30.34734408
131BTK0.34436082
132LCK0.34382729
133HIPK20.34074386
134MAP2K60.33244535
135BRD40.32966258
136CSNK1G30.32538276
137PASK0.32288487
138NUAK10.31891546
139BRAF0.31255291
140TGFBR10.31123248
141CAMK2D0.30829673
142SGK10.30242582
143BCR0.30004399
144CSNK1A1L0.29957163
145AURKB0.29437722
146FER0.29375332
147LATS10.29134527
148PRKACA0.29063893
149PRKCQ0.27672029
150CDK70.27534860
151MAPK40.27526677
152PAK10.26948650
153CAMK2G0.25920372
154WNK40.23612321
155PLK40.23218494
156CAMKK20.23113897
157STK110.22564264
158PINK10.22558457
159ADRBK10.22505684
160GRK50.21243659
161CSNK2A10.21046158

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030103.85891150
2One carbon pool by folate_Homo sapiens_hsa006703.46484667
3Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.44214241
4Protein export_Homo sapiens_hsa030602.78248282
5Fanconi anemia pathway_Homo sapiens_hsa034602.64001906
6Homologous recombination_Homo sapiens_hsa034402.34583986
7Butanoate metabolism_Homo sapiens_hsa006502.28580555
8Oxidative phosphorylation_Homo sapiens_hsa001902.28051399
9Phototransduction_Homo sapiens_hsa047442.22692718
10Olfactory transduction_Homo sapiens_hsa047402.17702585
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.15863195
12RNA transport_Homo sapiens_hsa030132.14021158
13Sphingolipid metabolism_Homo sapiens_hsa006001.95056409
14Selenocompound metabolism_Homo sapiens_hsa004501.94090569
15RNA polymerase_Homo sapiens_hsa030201.89736597
16Propanoate metabolism_Homo sapiens_hsa006401.86012608
17Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.85900028
18Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.85550160
19Ether lipid metabolism_Homo sapiens_hsa005651.80537956
20Arachidonic acid metabolism_Homo sapiens_hsa005901.79774467
21Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.78643556
22Other glycan degradation_Homo sapiens_hsa005111.73616441
23Graft-versus-host disease_Homo sapiens_hsa053321.65419273
24Autoimmune thyroid disease_Homo sapiens_hsa053201.64999327
25Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.62889577
26Cell cycle_Homo sapiens_hsa041101.62386918
27Basal transcription factors_Homo sapiens_hsa030221.57109149
28Nitrogen metabolism_Homo sapiens_hsa009101.53238391
29Allograft rejection_Homo sapiens_hsa053301.52706576
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.51600980
31Nicotine addiction_Homo sapiens_hsa050331.48602213
32Parkinsons disease_Homo sapiens_hsa050121.45135827
33Cysteine and methionine metabolism_Homo sapiens_hsa002701.44563047
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.38293767
35Fatty acid elongation_Homo sapiens_hsa000621.37384070
36Asthma_Homo sapiens_hsa053101.36428570
37Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.33527891
38Alzheimers disease_Homo sapiens_hsa050101.32442259
39Primary immunodeficiency_Homo sapiens_hsa053401.31059468
40Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.30828723
41Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.30513040
42Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.29038736
43Huntingtons disease_Homo sapiens_hsa050161.28767933
44Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.27264512
45Intestinal immune network for IgA production_Homo sapiens_hsa046721.24617366
46Pyruvate metabolism_Homo sapiens_hsa006201.22664026
47Linoleic acid metabolism_Homo sapiens_hsa005911.20499399
48Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.18440390
49NF-kappa B signaling pathway_Homo sapiens_hsa040641.14919095
50Pyrimidine metabolism_Homo sapiens_hsa002401.10798902
51Hematopoietic cell lineage_Homo sapiens_hsa046401.10666478
52Spliceosome_Homo sapiens_hsa030401.09616494
53DNA replication_Homo sapiens_hsa030301.09602601
54Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.07084384
55Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.06138299
56mRNA surveillance pathway_Homo sapiens_hsa030151.04629759
57Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.04536360
58Steroid hormone biosynthesis_Homo sapiens_hsa001401.02480663
59Taste transduction_Homo sapiens_hsa047421.02296869
60Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.01956406
61Non-homologous end-joining_Homo sapiens_hsa034501.01852776
62alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.98967446
63Serotonergic synapse_Homo sapiens_hsa047260.98821849
64Purine metabolism_Homo sapiens_hsa002300.98306804
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.93268564
66ABC transporters_Homo sapiens_hsa020100.90589053
67RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.90255722
68Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.87821730
69Morphine addiction_Homo sapiens_hsa050320.86681050
70Malaria_Homo sapiens_hsa051440.86312752
71Oocyte meiosis_Homo sapiens_hsa041140.85946574
72Nucleotide excision repair_Homo sapiens_hsa034200.85775941
73Histidine metabolism_Homo sapiens_hsa003400.84324866
74Rheumatoid arthritis_Homo sapiens_hsa053230.84321584
75Long-term depression_Homo sapiens_hsa047300.83066885
76Systemic lupus erythematosus_Homo sapiens_hsa053220.82566333
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.81715067
78Maturity onset diabetes of the young_Homo sapiens_hsa049500.80315371
79Mismatch repair_Homo sapiens_hsa034300.79930714
80Basal cell carcinoma_Homo sapiens_hsa052170.78677324
81Type II diabetes mellitus_Homo sapiens_hsa049300.77402621
82Steroid biosynthesis_Homo sapiens_hsa001000.76201870
83Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.75611733
84Transcriptional misregulation in cancer_Homo sapiens_hsa052020.75048790
85SNARE interactions in vesicular transport_Homo sapiens_hsa041300.71890272
86Caffeine metabolism_Homo sapiens_hsa002320.71207724
87Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.71020481
88Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.69481297
89Retinol metabolism_Homo sapiens_hsa008300.69304820
90Measles_Homo sapiens_hsa051620.67145459
91Glutamatergic synapse_Homo sapiens_hsa047240.67086043
92Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.64161642
93Axon guidance_Homo sapiens_hsa043600.63653348
94Wnt signaling pathway_Homo sapiens_hsa043100.62869721
95Jak-STAT signaling pathway_Homo sapiens_hsa046300.62235509
96Tryptophan metabolism_Homo sapiens_hsa003800.61198465
97Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.61125695
98Vitamin digestion and absorption_Homo sapiens_hsa049770.60853943
99Fatty acid metabolism_Homo sapiens_hsa012120.57213840
100Sulfur relay system_Homo sapiens_hsa041220.57167220
101Calcium signaling pathway_Homo sapiens_hsa040200.54054006
102Cyanoamino acid metabolism_Homo sapiens_hsa004600.51163030
103Melanogenesis_Homo sapiens_hsa049160.50792225
104Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.50780487
105Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.50246944
106Cardiac muscle contraction_Homo sapiens_hsa042600.49127044
107Dorso-ventral axis formation_Homo sapiens_hsa043200.48629655
108NOD-like receptor signaling pathway_Homo sapiens_hsa046210.47977034
109Lysine degradation_Homo sapiens_hsa003100.46980593
110Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.45181242
111Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.44699942
112Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.44612154
113African trypanosomiasis_Homo sapiens_hsa051430.44029929
114Peroxisome_Homo sapiens_hsa041460.43690457
115Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42936928
116Metabolic pathways_Homo sapiens_hsa011000.41926854
117Base excision repair_Homo sapiens_hsa034100.41726264
118Folate biosynthesis_Homo sapiens_hsa007900.40614512
119Carbohydrate digestion and absorption_Homo sapiens_hsa049730.40549885
120Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.40476843
121Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.38468675
122RNA degradation_Homo sapiens_hsa030180.38363074
123Carbon metabolism_Homo sapiens_hsa012000.37987793
124Herpes simplex infection_Homo sapiens_hsa051680.36823142
125Ras signaling pathway_Homo sapiens_hsa040140.36751211
126Primary bile acid biosynthesis_Homo sapiens_hsa001200.36105909
127Type I diabetes mellitus_Homo sapiens_hsa049400.35387531
128Ovarian steroidogenesis_Homo sapiens_hsa049130.34329032
129Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.33918492
130GABAergic synapse_Homo sapiens_hsa047270.33804997
131Alcoholism_Homo sapiens_hsa050340.33062891
132p53 signaling pathway_Homo sapiens_hsa041150.32921004
133Proteasome_Homo sapiens_hsa030500.31943823
134Regulation of autophagy_Homo sapiens_hsa041400.31439003
135Biosynthesis of amino acids_Homo sapiens_hsa012300.31101186
136Fat digestion and absorption_Homo sapiens_hsa049750.29823100
137Toll-like receptor signaling pathway_Homo sapiens_hsa046200.28604525
138T cell receptor signaling pathway_Homo sapiens_hsa046600.28500529
139Fatty acid biosynthesis_Homo sapiens_hsa000610.27549852
140Hedgehog signaling pathway_Homo sapiens_hsa043400.27165795
141Insulin secretion_Homo sapiens_hsa049110.26480024
142Melanoma_Homo sapiens_hsa052180.26154061
143Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.24204579
144Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.23903543
145Arginine biosynthesis_Homo sapiens_hsa002200.23643748
146mTOR signaling pathway_Homo sapiens_hsa041500.22059971
147Arginine and proline metabolism_Homo sapiens_hsa003300.20757854

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