TCTN2

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 type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. 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
1epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.91518690
2axonemal dynein complex assembly (GO:0070286)7.72741532
3epithelial cilium movement (GO:0003351)7.30157903
4cilium movement (GO:0003341)7.13111784
5cilium or flagellum-dependent cell motility (GO:0001539)6.93392230
6axoneme assembly (GO:0035082)5.47015204
7motile cilium assembly (GO:0044458)5.32450459
8regulation of cilium movement (GO:0003352)4.75576225
9intraciliary transport (GO:0042073)4.73184622
10* cilium organization (GO:0044782)4.41203797
11* cilium assembly (GO:0042384)4.29069160
12behavioral response to nicotine (GO:0035095)4.18995856
13protein polyglutamylation (GO:0018095)4.04485486
14protein localization to cilium (GO:0061512)4.01284289
15* cilium morphogenesis (GO:0060271)3.91008468
16nonmotile primary cilium assembly (GO:0035058)3.84526246
17response to pheromone (GO:0019236)3.83129381
18fucose catabolic process (GO:0019317)3.49785207
19L-fucose metabolic process (GO:0042354)3.49785207
20L-fucose catabolic process (GO:0042355)3.49785207
21left/right axis specification (GO:0070986)3.43444977
22left/right pattern formation (GO:0060972)3.29836787
23cornea development in camera-type eye (GO:0061303)3.29699735
24centriole replication (GO:0007099)3.29384470
25* cellular component assembly involved in morphogenesis (GO:0010927)3.27876904
26sperm motility (GO:0030317)3.27381470
27kidney morphogenesis (GO:0060993)3.22511428
28microtubule bundle formation (GO:0001578)3.12093204
29regulation of microtubule-based movement (GO:0060632)3.11683198
30* smoothened signaling pathway (GO:0007224)3.11117459
31limb bud formation (GO:0060174)3.05706578
32retinal ganglion cell axon guidance (GO:0031290)3.05188349
33retinal cone cell development (GO:0046549)3.00756717
34neural tube formation (GO:0001841)2.97446343
35negative regulation of axon guidance (GO:1902668)2.96982618
36photoreceptor cell maintenance (GO:0045494)2.94412820
37centriole assembly (GO:0098534)2.90581784
38detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.89146816
39somite development (GO:0061053)2.89131451
40tryptophan catabolic process (GO:0006569)2.88844005
41indole-containing compound catabolic process (GO:0042436)2.88844005
42indolalkylamine catabolic process (GO:0046218)2.88844005
43ventricular system development (GO:0021591)2.85640960
44photoreceptor cell development (GO:0042461)2.84577727
45lateral sprouting from an epithelium (GO:0060601)2.81802630
46determination of left/right symmetry (GO:0007368)2.80881532
47water-soluble vitamin biosynthetic process (GO:0042364)2.78115257
48platelet dense granule organization (GO:0060155)2.74239245
49pyrimidine nucleobase catabolic process (GO:0006208)2.73442690
50cell proliferation in forebrain (GO:0021846)2.71641846
51indolalkylamine metabolic process (GO:0006586)2.70018065
52limb development (GO:0060173)2.68235966
53appendage development (GO:0048736)2.68235966
54determination of bilateral symmetry (GO:0009855)2.67654692
55microtubule depolymerization (GO:0007019)2.66183500
56* cell projection assembly (GO:0030031)2.65055975
57transmission of nerve impulse (GO:0019226)2.62642857
58negative regulation of telomere maintenance (GO:0032205)2.62460089
59negative regulation of transcription regulatory region DNA binding (GO:2000678)2.62400210
60specification of symmetry (GO:0009799)2.60933344
61cellular ketone body metabolic process (GO:0046950)2.60877787
62presynaptic membrane assembly (GO:0097105)2.59732277
63eye photoreceptor cell development (GO:0042462)2.58966561
64ubiquinone metabolic process (GO:0006743)2.58390252
65regulation of collateral sprouting (GO:0048670)2.57383189
66gamma-aminobutyric acid transport (GO:0015812)2.57287612
67preassembly of GPI anchor in ER membrane (GO:0016254)2.56489546
68ubiquinone biosynthetic process (GO:0006744)2.55791592
69multicellular organism reproduction (GO:0032504)2.55575123
70mannosylation (GO:0097502)2.53919341
71kynurenine metabolic process (GO:0070189)2.52951730
72spinal cord motor neuron differentiation (GO:0021522)2.52761436
73positive regulation of oligodendrocyte differentiation (GO:0048714)2.52172672
74piRNA metabolic process (GO:0034587)2.49991189
75protein complex biogenesis (GO:0070271)2.48979554
76inner ear receptor stereocilium organization (GO:0060122)2.47945710
77tryptophan metabolic process (GO:0006568)2.44266680
78negative regulation of cytosolic calcium ion concentration (GO:0051481)2.44096031
79GPI anchor metabolic process (GO:0006505)2.42453365
80neuron fate determination (GO:0048664)2.42383761
81retinal rod cell development (GO:0046548)2.42327341
82detection of light stimulus involved in sensory perception (GO:0050962)2.42310225
83detection of light stimulus involved in visual perception (GO:0050908)2.42310225
84embryonic epithelial tube formation (GO:0001838)2.41634186
85replication fork processing (GO:0031297)2.38865234
86ketone body metabolic process (GO:1902224)2.38661489
87DNA double-strand break processing (GO:0000729)2.37948275
88microtubule-based movement (GO:0007018)2.37766557
89postsynaptic membrane organization (GO:0001941)2.37655735
90G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.37055976
91mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.36437623
92mitochondrial respiratory chain complex I assembly (GO:0032981)2.36437623
93NADH dehydrogenase complex assembly (GO:0010257)2.36437623
94resolution of meiotic recombination intermediates (GO:0000712)2.35556494
95presynaptic membrane organization (GO:0097090)2.34932500
96DNA deamination (GO:0045006)2.33894341
97spermatid development (GO:0007286)2.32817511
98nucleobase catabolic process (GO:0046113)2.30677729
99dorsal/ventral pattern formation (GO:0009953)2.30638946
100hindbrain development (GO:0030902)2.30622216

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.52639158
2GBX2_23144817_ChIP-Seq_PC3_Human3.13266790
3VDR_22108803_ChIP-Seq_LS180_Human2.95795631
4GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.91732602
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.61768685
6ZFP57_27257070_Chip-Seq_ESCs_Mouse2.51540497
7EZH2_22144423_ChIP-Seq_EOC_Human2.50219052
8IGF1R_20145208_ChIP-Seq_DFB_Human2.45419206
9HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.35244419
10CTBP1_25329375_ChIP-Seq_LNCAP_Human2.30388519
11CTBP2_25329375_ChIP-Seq_LNCAP_Human2.29991127
12FUS_26573619_Chip-Seq_HEK293_Human2.29916338
13POU3F2_20337985_ChIP-ChIP_501MEL_Human2.18992204
14TAF15_26573619_Chip-Seq_HEK293_Human2.13670692
15P300_19829295_ChIP-Seq_ESCs_Human2.12280362
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.11065339
17FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.10352485
18EWS_26573619_Chip-Seq_HEK293_Human2.08347145
19TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.84553253
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.79319342
21ER_23166858_ChIP-Seq_MCF-7_Human1.76732315
22CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.76164669
23PIAS1_25552417_ChIP-Seq_VCAP_Human1.74653158
24EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.70480078
25FLI1_27457419_Chip-Seq_LIVER_Mouse1.64886099
26SMAD4_21799915_ChIP-Seq_A2780_Human1.64181489
27* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.63959170
28CBX2_27304074_Chip-Seq_ESCs_Mouse1.63889948
29CBP_20019798_ChIP-Seq_JUKART_Human1.56840508
30IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.56840508
31PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56560701
32NR3C1_21868756_ChIP-Seq_MCF10A_Human1.55251837
33STAT3_23295773_ChIP-Seq_U87_Human1.54257810
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.51954330
35* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.49425557
36TOP2B_26459242_ChIP-Seq_MCF-7_Human1.49117308
37BMI1_23680149_ChIP-Seq_NPCS_Mouse1.48897135
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.48429958
39MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.47059451
40AR_25329375_ChIP-Seq_VCAP_Human1.46647713
41MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.44665282
42SMAD3_21741376_ChIP-Seq_EPCs_Human1.44247216
43BCAT_22108803_ChIP-Seq_LS180_Human1.44105153
44UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.43498066
45NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.43225400
46MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.38172149
47RNF2_27304074_Chip-Seq_NSC_Mouse1.38141245
48PCGF2_27294783_Chip-Seq_ESCs_Mouse1.37866502
49POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.37713546
50TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.37713546
51TCF4_23295773_ChIP-Seq_U87_Human1.36414701
52IRF1_19129219_ChIP-ChIP_H3396_Human1.34474861
53MYC_18940864_ChIP-ChIP_HL60_Human1.31926592
54TP53_22573176_ChIP-Seq_HFKS_Human1.29639986
55RUNX2_22187159_ChIP-Seq_PCA_Human1.29445554
56TCF4_22108803_ChIP-Seq_LS180_Human1.29204821
57REST_21632747_ChIP-Seq_MESCs_Mouse1.27196066
58AR_21572438_ChIP-Seq_LNCaP_Human1.26688298
59PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.26006900
60GABP_17652178_ChIP-ChIP_JURKAT_Human1.25064949
61NANOG_19829295_ChIP-Seq_ESCs_Human1.23031229
62SOX2_19829295_ChIP-Seq_ESCs_Human1.23031229
63GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.22970287
64SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22308627
65KLF5_20875108_ChIP-Seq_MESCs_Mouse1.22038556
66SMAD4_21741376_ChIP-Seq_EPCs_Human1.17651847
67POU5F1_16153702_ChIP-ChIP_HESCs_Human1.15157742
68* FOXA1_25329375_ChIP-Seq_VCAP_Human1.11493505
69* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.11493505
70NCOR_22424771_ChIP-Seq_293T_Human1.11382375
71OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10607589
72KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.09704396
73RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09662666
74NANOG_18555785_Chip-Seq_ESCs_Mouse1.09299083
75AR_20517297_ChIP-Seq_VCAP_Human1.08332664
76EED_16625203_ChIP-ChIP_MESCs_Mouse1.07808967
77TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07325882
78ETV2_25802403_ChIP-Seq_MESCs_Mouse1.06917913
79GATA3_21878914_ChIP-Seq_MCF-7_Human1.06150421
80DROSHA_22980978_ChIP-Seq_HELA_Human1.05800443
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05196217
82PCGF2_27294783_Chip-Seq_NPCs_Mouse1.04742004
83EZH2_27304074_Chip-Seq_ESCs_Mouse1.03668257
84SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03027197
85EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.02941765
86CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02568392
87NFE2_27457419_Chip-Seq_LIVER_Mouse1.01140918
88EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.00844903
89AHR_22903824_ChIP-Seq_MCF-7_Human1.00419876
90SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.00285420
91HOXB7_26014856_ChIP-Seq_BT474_Human1.00097741
92FOXA1_21572438_ChIP-Seq_LNCaP_Human0.99578936
93TBL1_22424771_ChIP-Seq_293T_Human0.99505105
94TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98781252
95ARNT_22903824_ChIP-Seq_MCF-7_Human0.98638438
96EZH2_27294783_Chip-Seq_NPCs_Mouse0.97464410
97AUTS2_25519132_ChIP-Seq_293T-REX_Human0.96858773
98PHF8_20622853_ChIP-Seq_HELA_Human0.96320778
99PRDM14_20953172_ChIP-Seq_ESCs_Human0.95427766
100FLI1_21867929_ChIP-Seq_TH2_Mouse0.95017491

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002653_abnormal_ependyma_morphology3.95766939
2MP0003136_yellow_coat_color2.96768537
3MP0002102_abnormal_ear_morphology2.58806880
4MP0006292_abnormal_olfactory_placode2.58431502
5MP0001984_abnormal_olfaction2.52756675
6MP0005551_abnormal_eye_electrophysiolog2.12736598
7MP0002837_dystrophic_cardiac_calcinosis2.12487372
8MP0005646_abnormal_pituitary_gland2.12357031
9MP0002938_white_spotting2.12062929
10MP0008877_abnormal_DNA_methylation2.04835139
11MP0002638_abnormal_pupillary_reflex2.03846388
12MP0008789_abnormal_olfactory_epithelium2.01380023
13MP0004133_heterotaxia1.97110631
14MP0003880_abnormal_central_pattern1.96708518
15MP0008875_abnormal_xenobiotic_pharmacok1.93388678
16MP0006072_abnormal_retinal_apoptosis1.91812635
17MP0001485_abnormal_pinna_reflex1.79675564
18MP0005253_abnormal_eye_physiology1.79462880
19MP0000383_abnormal_hair_follicle1.75050508
20MP0009046_muscle_twitch1.69882852
21MP0003195_calcinosis1.69709745
22MP0001968_abnormal_touch/_nociception1.69509536
23MP0000631_abnormal_neuroendocrine_gland1.67869042
24MP0002282_abnormal_trachea_morphology1.66896811
25MP0003878_abnormal_ear_physiology1.65214298
26MP0005377_hearing/vestibular/ear_phenot1.65214298
27MP0004885_abnormal_endolymph1.58470718
28MP0005394_taste/olfaction_phenotype1.55931397
29MP0005499_abnormal_olfactory_system1.55931397
30MP0002736_abnormal_nociception_after1.51672706
31MP0003122_maternal_imprinting1.51666526
32MP0000566_synostosis1.50668408
33MP0000372_irregular_coat_pigmentation1.50634079
34MP0002876_abnormal_thyroid_physiology1.50140777
35MP0000778_abnormal_nervous_system1.49426548
36MP0004043_abnormal_pH_regulation1.48496288
37MP0009745_abnormal_behavioral_response1.48273131
38MP0002160_abnormal_reproductive_system1.47265576
39MP0006276_abnormal_autonomic_nervous1.45495991
40MP0000569_abnormal_digit_pigmentation1.45108611
41MP0003283_abnormal_digestive_organ1.42942208
42MP0000427_abnormal_hair_cycle1.39942333
43MP0004142_abnormal_muscle_tone1.37061937
44MP0003787_abnormal_imprinting1.35545541
45MP0000049_abnormal_middle_ear1.32489776
46MP0001293_anophthalmia1.32290338
47MP0002234_abnormal_pharynx_morphology1.30779780
48MP0002928_abnormal_bile_duct1.29072217
49MP0002272_abnormal_nervous_system1.28715253
50MP0008872_abnormal_physiological_respon1.28617457
51MP0001486_abnormal_startle_reflex1.27500575
52MP0000026_abnormal_inner_ear1.27176864
53MP0002751_abnormal_autonomic_nervous1.25581882
54MP0003937_abnormal_limbs/digits/tail_de1.25154623
55MP0002572_abnormal_emotion/affect_behav1.23898106
56MP0010030_abnormal_orbit_morphology1.21682642
57MP0005195_abnormal_posterior_eye1.21251442
58MP0005645_abnormal_hypothalamus_physiol1.19446652
59MP0005410_abnormal_fertilization1.18945314
60MP0002557_abnormal_social/conspecific_i1.18517841
61MP0002735_abnormal_chemical_nociception1.16560584
62MP0003011_delayed_dark_adaptation1.15611436
63MP0003718_maternal_effect1.15149922
64MP0001529_abnormal_vocalization1.12052135
65MP0010678_abnormal_skin_adnexa1.10691727
66MP0002734_abnormal_mechanical_nocicepti1.09684073
67MP0005391_vision/eye_phenotype1.06339459
68MP0001324_abnormal_eye_pigmentation1.05359325
69MP0002752_abnormal_somatic_nervous1.05331596
70MP0003121_genomic_imprinting1.05320934
71MP0003698_abnormal_male_reproductive1.04514965
72MP0003938_abnormal_ear_development1.04408884
73MP0001501_abnormal_sleep_pattern1.04275647
74MP0005389_reproductive_system_phenotype1.03099172
75MP0002233_abnormal_nose_morphology0.99888664
76MP0001929_abnormal_gametogenesis0.99728379
77MP0002064_seizures0.99149231
78MP0001963_abnormal_hearing_physiology0.98159055
79MP0005174_abnormal_tail_pigmentation0.98035040
80MP0001970_abnormal_pain_threshold0.97690922
81MP0002184_abnormal_innervation0.95335152
82MP0000647_abnormal_sebaceous_gland0.94873088
83MP0002067_abnormal_sensory_capabilities0.93636541
84MP0005084_abnormal_gallbladder_morpholo0.93349233
85MP0008995_early_reproductive_senescence0.90630860
86MP0003119_abnormal_digestive_system0.88581774
87MP0004147_increased_porphyrin_level0.87123413
88MP0002095_abnormal_skin_pigmentation0.87027975
89MP0002277_abnormal_respiratory_mucosa0.86451583
90MP0010386_abnormal_urinary_bladder0.86327701
91MP0004742_abnormal_vestibular_system0.83546656
92MP0002063_abnormal_learning/memory/cond0.83481777
93MP0001502_abnormal_circadian_rhythm0.82302017
94MP0000955_abnormal_spinal_cord0.82245307
95MP0002210_abnormal_sex_determination0.82099977
96MP0002909_abnormal_adrenal_gland0.81325749
97MP0001286_abnormal_eye_development0.80459598
98MP0002882_abnormal_neuron_morphology0.79291421
99MP0002733_abnormal_thermal_nociception0.78693355
100MP0003635_abnormal_synaptic_transmissio0.78065367

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)6.18956383
2Dynein arm defect of respiratory motile cilia (HP:0012255)6.02718946
3Absent/shortened dynein arms (HP:0200106)6.02718946
4Abnormal respiratory epithelium morphology (HP:0012253)5.84008313
5Abnormal respiratory motile cilium morphology (HP:0005938)5.84008313
6Abnormal ciliary motility (HP:0012262)5.77913151
7Abnormal respiratory motile cilium physiology (HP:0012261)5.61545782
8Rhinitis (HP:0012384)4.84635011
9* True hermaphroditism (HP:0010459)4.59949205
10* Pancreatic fibrosis (HP:0100732)4.58617595
11* Pancreatic cysts (HP:0001737)4.54109946
12Abnormality of midbrain morphology (HP:0002418)4.42198432
13Molar tooth sign on MRI (HP:0002419)4.42198432
14Nephronophthisis (HP:0000090)4.33862241
15Abnormality of the renal medulla (HP:0100957)3.64574387
16Chronic hepatic failure (HP:0100626)3.47870825
17Medial flaring of the eyebrow (HP:0010747)3.45646984
18Chronic bronchitis (HP:0004469)3.45381575
19* Cystic liver disease (HP:0006706)3.33107815
20Bronchiectasis (HP:0002110)3.26890239
21Tubular atrophy (HP:0000092)3.15737511
22Occipital encephalocele (HP:0002085)3.09824328
23Type II lissencephaly (HP:0007260)3.02893706
24Abnormality of the renal cortex (HP:0011035)3.02311237
25Gait imbalance (HP:0002141)2.80125724
26Congenital primary aphakia (HP:0007707)2.75793179
27* Postaxial foot polydactyly (HP:0001830)2.59969370
28Congenital stationary night blindness (HP:0007642)2.58281968
29* Sclerocornea (HP:0000647)2.55032599
30Abnormal drinking behavior (HP:0030082)2.53926735
31Polydipsia (HP:0001959)2.53926735
32* Congenital hepatic fibrosis (HP:0002612)2.53078204
33* Aplasia/Hypoplasia of the tongue (HP:0010295)2.52915183
34Nephrogenic diabetes insipidus (HP:0009806)2.50550915
35* Anencephaly (HP:0002323)2.39010095
36Genital tract atresia (HP:0001827)2.34854396
37Bile duct proliferation (HP:0001408)2.32683632
38Abnormal biliary tract physiology (HP:0012439)2.32683632
39Vaginal atresia (HP:0000148)2.32389313
40* Postaxial hand polydactyly (HP:0001162)2.30963958
41* Male pseudohermaphroditism (HP:0000037)2.22478981
42Tubulointerstitial nephritis (HP:0001970)2.19831872
43Tubulointerstitial abnormality (HP:0001969)2.19763475
44Abnormal rod and cone electroretinograms (HP:0008323)2.13889582
45Abolished electroretinogram (ERG) (HP:0000550)2.12966142
46Keratoconus (HP:0000563)2.11532657
47Increased corneal curvature (HP:0100692)2.11532657
48Tubulointerstitial fibrosis (HP:0005576)2.07735945
49Decreased central vision (HP:0007663)2.07194205
50Pendular nystagmus (HP:0012043)2.04712933
51* Preaxial hand polydactyly (HP:0001177)2.01490667
52Chronic sinusitis (HP:0011109)2.01244847
53Cerebellar dysplasia (HP:0007033)2.00925181
54Supernumerary spleens (HP:0009799)2.00731199
55Optic nerve hypoplasia (HP:0000609)2.00000624
56Nasal polyposis (HP:0100582)1.96981164
57Aplasia/Hypoplasia of the spleen (HP:0010451)1.96036316
58* Furrowed tongue (HP:0000221)1.95301255
59Poor coordination (HP:0002370)1.91161983
60Attenuation of retinal blood vessels (HP:0007843)1.90270495
61Polyuria (HP:0000103)1.89790172
62Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.87188230
63Asplenia (HP:0001746)1.84120811
64Renal cortical cysts (HP:0000803)1.82889372
65Absent rod-and cone-mediated responses on ERG (HP:0007688)1.82585242
66Retinal dysplasia (HP:0007973)1.81442296
67Abnormality of the labia minora (HP:0012880)1.80857940
68Lissencephaly (HP:0001339)1.80786999
69Hemiparesis (HP:0001269)1.80359840
70Infertility (HP:0000789)1.80031014
71Median cleft lip (HP:0000161)1.79560545
72Abnormality of macular pigmentation (HP:0008002)1.79441728
73Progressive cerebellar ataxia (HP:0002073)1.74953484
74Hyperventilation (HP:0002883)1.72985473
75Aplasia/Hypoplasia of the uvula (HP:0010293)1.72747334
76Gaze-evoked nystagmus (HP:0000640)1.69361363
77Oligodactyly (hands) (HP:0001180)1.66342745
78Astigmatism (HP:0000483)1.65925305
79Large for gestational age (HP:0001520)1.65684086
80Recurrent sinusitis (HP:0011108)1.65316608
81* Aganglionic megacolon (HP:0002251)1.64670266
82Acute necrotizing encephalopathy (HP:0006965)1.63371320
83Methylmalonic acidemia (HP:0002912)1.63187345
84* Narrow forehead (HP:0000341)1.61428050
85* Oculomotor apraxia (HP:0000657)1.60193263
86Bony spicule pigmentary retinopathy (HP:0007737)1.59847929
87Stage 5 chronic kidney disease (HP:0003774)1.59718633
88* Dandy-Walker malformation (HP:0001305)1.58050593
89Specific learning disability (HP:0001328)1.57878299
90Aplasia/Hypoplasia of the tibia (HP:0005772)1.57855474
91Retinitis pigmentosa (HP:0000510)1.56141344
92Renal dysplasia (HP:0000110)1.53642701
93* Multicystic kidney dysplasia (HP:0000003)1.53621412
94Hyperglycinemia (HP:0002154)1.53543257
95Congenital, generalized hypertrichosis (HP:0004540)1.53304200
96Disproportionate short-trunk short stature (HP:0003521)1.52844258
97Concave nail (HP:0001598)1.52436651
98Intestinal atresia (HP:0011100)1.52328218
99Aplasia/hypoplasia of the uterus (HP:0008684)1.52075567
100Abnormality of the ileum (HP:0001549)1.51053309

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.48206395
2MAPK153.46089127
3BMPR1B3.26030613
4MAP4K22.63671917
5CASK2.53961287
6WNK32.47971104
7PINK12.42422501
8ADRBK22.37240067
9ZAK2.22670419
10WNK42.18558311
11GRK12.01877100
12MAPK131.90537732
13MAP3K41.83076090
14NUAK11.82426283
15PNCK1.82025351
16TLK11.80376080
17TNIK1.77627825
18INSRR1.73237011
19TRIM281.70000490
20STK391.64336050
21BCR1.59615239
22PLK21.44223366
23OXSR11.41868934
24BRSK21.40878641
25TAOK31.39071014
26EPHA41.37506297
27MKNK21.36748828
28VRK11.35155595
29MAP2K71.31317646
30MARK11.31022965
31FGFR21.29486465
32DYRK21.27690040
33ACVR1B1.21801732
34MST41.18706638
35PTK2B1.16446863
36BCKDK1.15569091
37WEE11.13939249
38TGFBR11.12890622
39PAK31.10329887
40CSNK1G21.10090184
41ERBB31.04812279
42VRK21.04125289
43EPHA31.03375386
44PRKCE1.00955480
45CSNK1G30.99898292
46STK38L0.99819571
47CSNK1G10.98703241
48MAPKAPK30.97479575
49PLK40.93401908
50PRKCG0.91287806
51MKNK10.89174792
52NTRK20.88821628
53CSNK1A1L0.87657609
54PLK30.87499544
55MUSK0.84129497
56ADRBK10.83110632
57EPHB20.82422168
58NTRK30.77094696
59PHKG20.70968665
60PHKG10.70968665
61TIE10.68446538
62MAPKAPK50.65853019
63NME10.64196849
64PLK10.64043100
65FER0.61084026
66LATS10.61052957
67NEK20.60904672
68PKN10.59264862
69CDK30.57867460
70STK30.56425759
71CAMKK20.55301348
72RPS6KA50.51830221
73ATR0.47939538
74DYRK30.47550586
75CAMK2A0.47145967
76CSNK1A10.44611675
77PRKCI0.43978120
78ERBB20.42410897
79IRAK10.42172003
80DAPK20.42062371
81CDC70.39919191
82PRKACA0.39885874
83MARK30.38950291
84DYRK1A0.38186633
85MINK10.37530914
86TSSK60.36054198
87TTK0.35306036
88STK160.35136271
89ATM0.34991177
90CHEK20.34894103
91PRKAA10.34561638
92PRKCQ0.34233630
93TAF10.32916642
94PRKD30.32861116
95TXK0.31480216
96CDK80.29557446
97PASK0.29459846
98PRKCZ0.28930829
99BRSK10.28004790
100STK110.26945435

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047442.67777358
2Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.59160713
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.52632825
4Nitrogen metabolism_Homo sapiens_hsa009102.35416192
5Fanconi anemia pathway_Homo sapiens_hsa034602.28318734
6Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.27797951
7Protein export_Homo sapiens_hsa030602.25172988
8Oxidative phosphorylation_Homo sapiens_hsa001902.23949426
9Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.11265732
10Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.03557006
11Nicotine addiction_Homo sapiens_hsa050332.01114873
12Homologous recombination_Homo sapiens_hsa034401.96439529
13Maturity onset diabetes of the young_Homo sapiens_hsa049501.96143853
14Butanoate metabolism_Homo sapiens_hsa006501.95047157
15Linoleic acid metabolism_Homo sapiens_hsa005911.94872070
16Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.85635304
17Huntingtons disease_Homo sapiens_hsa050161.81119763
18Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.69607115
19Parkinsons disease_Homo sapiens_hsa050121.68280630
20Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.64365141
21alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.63887872
22Chemical carcinogenesis_Homo sapiens_hsa052041.60328551
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.50989074
24Basal transcription factors_Homo sapiens_hsa030221.50648253
25Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.50328549
26Propanoate metabolism_Homo sapiens_hsa006401.45419070
27Tryptophan metabolism_Homo sapiens_hsa003801.44952769
28Hedgehog signaling pathway_Homo sapiens_hsa043401.42702762
29Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.42232403
30Selenocompound metabolism_Homo sapiens_hsa004501.38676869
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.38236645
32Olfactory transduction_Homo sapiens_hsa047401.34416785
33Peroxisome_Homo sapiens_hsa041461.33371280
34Primary bile acid biosynthesis_Homo sapiens_hsa001201.27652700
35Taste transduction_Homo sapiens_hsa047421.27457000
36Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.26822658
37RNA degradation_Homo sapiens_hsa030181.26359707
38Steroid biosynthesis_Homo sapiens_hsa001001.23233482
39Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.19992484
40Basal cell carcinoma_Homo sapiens_hsa052171.15974029
41RNA polymerase_Homo sapiens_hsa030201.15782554
42Histidine metabolism_Homo sapiens_hsa003401.15282989
43beta-Alanine metabolism_Homo sapiens_hsa004101.14594591
44Ether lipid metabolism_Homo sapiens_hsa005651.13073366
45Caffeine metabolism_Homo sapiens_hsa002321.12876341
46Alzheimers disease_Homo sapiens_hsa050101.09978436
47Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.09595722
48Cardiac muscle contraction_Homo sapiens_hsa042601.06638560
49Retinol metabolism_Homo sapiens_hsa008301.03678912
50Morphine addiction_Homo sapiens_hsa050321.00778930
51GABAergic synapse_Homo sapiens_hsa047270.99112380
52Insulin secretion_Homo sapiens_hsa049110.98268655
53ABC transporters_Homo sapiens_hsa020100.95358391
54Steroid hormone biosynthesis_Homo sapiens_hsa001400.93482370
55Nucleotide excision repair_Homo sapiens_hsa034200.91656729
56Collecting duct acid secretion_Homo sapiens_hsa049660.91429166
57Circadian entrainment_Homo sapiens_hsa047130.88601982
58Purine metabolism_Homo sapiens_hsa002300.83079503
59Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.82353245
60Salivary secretion_Homo sapiens_hsa049700.81883149
61Tyrosine metabolism_Homo sapiens_hsa003500.79468145
62Regulation of autophagy_Homo sapiens_hsa041400.78869815
63Glutathione metabolism_Homo sapiens_hsa004800.77720089
64Glutamatergic synapse_Homo sapiens_hsa047240.77719864
65Mismatch repair_Homo sapiens_hsa034300.76586647
66One carbon pool by folate_Homo sapiens_hsa006700.75674286
67Arachidonic acid metabolism_Homo sapiens_hsa005900.75607779
68Serotonergic synapse_Homo sapiens_hsa047260.75065328
69Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.73185914
70Metabolic pathways_Homo sapiens_hsa011000.72580414
71Circadian rhythm_Homo sapiens_hsa047100.67733126
72Hippo signaling pathway_Homo sapiens_hsa043900.62665002
73Cocaine addiction_Homo sapiens_hsa050300.62517914
74Axon guidance_Homo sapiens_hsa043600.57240149
75Base excision repair_Homo sapiens_hsa034100.57043200
76Sphingolipid metabolism_Homo sapiens_hsa006000.55471967
77Non-homologous end-joining_Homo sapiens_hsa034500.54868745
78Pyrimidine metabolism_Homo sapiens_hsa002400.53176504
79Ovarian steroidogenesis_Homo sapiens_hsa049130.53022280
80Glycerolipid metabolism_Homo sapiens_hsa005610.52130768
81Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.51797843
82Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.48121244
83Calcium signaling pathway_Homo sapiens_hsa040200.48113796
84Pentose and glucuronate interconversions_Homo sapiens_hsa000400.45934311
85Cysteine and methionine metabolism_Homo sapiens_hsa002700.45350434
86Fatty acid degradation_Homo sapiens_hsa000710.44068580
87Proteasome_Homo sapiens_hsa030500.42966118
88Folate biosynthesis_Homo sapiens_hsa007900.42481525
89Dopaminergic synapse_Homo sapiens_hsa047280.42469072
90Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.41526732
91Fatty acid elongation_Homo sapiens_hsa000620.38394134
92TGF-beta signaling pathway_Homo sapiens_hsa043500.37511599
93Phenylalanine metabolism_Homo sapiens_hsa003600.37218214
94Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35799438
95Amphetamine addiction_Homo sapiens_hsa050310.34453027
96Sulfur relay system_Homo sapiens_hsa041220.34095676
97Sulfur metabolism_Homo sapiens_hsa009200.34077036
98Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.33123540
99cAMP signaling pathway_Homo sapiens_hsa040240.31104808
100Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.30666686

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