STON1-GTF2A1L

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: STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. 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)5.07117240
2artery development (GO:0060840)4.99273671
3regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)4.34073805
4protein neddylation (GO:0045116)3.77114008
5limb bud formation (GO:0060174)3.75172983
6regulation of integrin-mediated signaling pathway (GO:2001044)3.70058203
7DNA double-strand break processing (GO:0000729)3.58209856
8relaxation of smooth muscle (GO:0044557)3.52602453
9somite development (GO:0061053)3.51713270
10regulation of non-canonical Wnt signaling pathway (GO:2000050)3.45300904
11epithelial cilium movement (GO:0003351)3.45028001
12positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc3.42688202
13otic vesicle formation (GO:0030916)3.36712125
14negative chemotaxis (GO:0050919)3.31372716
15cerebral cortex radially oriented cell migration (GO:0021799)3.28439337
16gastrulation with mouth forming second (GO:0001702)3.26790026
17outer ear morphogenesis (GO:0042473)3.26556714
18cell proliferation in forebrain (GO:0021846)3.23848884
19cilium movement (GO:0003341)3.20987473
20tongue development (GO:0043586)3.20106097
21positive regulation of SMAD protein import into nucleus (GO:0060391)3.17463697
22intraciliary transport (GO:0042073)3.13347116
23lateral sprouting from an epithelium (GO:0060601)3.08078405
24acrosome reaction (GO:0007340)3.06726295
25positive regulation of neuroblast proliferation (GO:0002052)3.06197257
26neuron fate determination (GO:0048664)3.05444900
27retinal cone cell development (GO:0046549)3.01903783
28cranial suture morphogenesis (GO:0060363)2.96794534
29lung secretory cell differentiation (GO:0061140)2.89155228
30regulation of meiosis I (GO:0060631)2.88475375
31genitalia morphogenesis (GO:0035112)2.84418335
32platelet dense granule organization (GO:0060155)2.83473697
33limb development (GO:0060173)2.82831058
34appendage development (GO:0048736)2.82831058
35inner ear receptor stereocilium organization (GO:0060122)2.82532829
36positive regulation of chondrocyte differentiation (GO:0032332)2.81974567
37myelin assembly (GO:0032288)2.80907327
38negative regulation of platelet activation (GO:0010544)2.79552802
39peptidyl-lysine trimethylation (GO:0018023)2.73937441
40hippo signaling (GO:0035329)2.73650688
41pancreas development (GO:0031016)2.72392958
42retinal rod cell development (GO:0046548)2.70659297
43cilium morphogenesis (GO:0060271)2.70228734
44replication fork processing (GO:0031297)2.68667456
45craniofacial suture morphogenesis (GO:0097094)2.66344724
46radial glial cell differentiation (GO:0060019)2.64185981
47negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.63343777
48thrombin receptor signaling pathway (GO:0070493)2.59614422
49regulation of SMAD protein import into nucleus (GO:0060390)2.59316350
50intra-S DNA damage checkpoint (GO:0031573)2.58783522
51positive regulation of neurological system process (GO:0031646)2.58397937
52cardiac muscle cell development (GO:0055013)2.57636939
53regulation of keratinocyte proliferation (GO:0010837)2.56869697
54cGMP-mediated signaling (GO:0019934)2.56598115
55negative regulation of astrocyte differentiation (GO:0048712)2.56415564
56positive regulation of neural precursor cell proliferation (GO:2000179)2.56217631
57fibroblast migration (GO:0010761)2.54180006
58negative regulation of homotypic cell-cell adhesion (GO:0034111)2.54103828
59eye photoreceptor cell development (GO:0042462)2.51698225
60cilium organization (GO:0044782)2.51515146
61DNA integration (GO:0015074)2.51405580
62long-chain fatty acid biosynthetic process (GO:0042759)2.51323873
63positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)2.49523022
64cilium assembly (GO:0042384)2.47950175
65kinetochore organization (GO:0051383)2.46592245
66photoreceptor cell development (GO:0042461)2.44654158
67cerebral cortex cell migration (GO:0021795)2.44583322
68regulation of lipoprotein metabolic process (GO:0050746)2.44282140
69prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.43524342
70organ formation (GO:0048645)2.42658943
71photoreceptor cell maintenance (GO:0045494)2.39841838
72cardiac cell development (GO:0055006)2.39628179
73lung-associated mesenchyme development (GO:0060484)2.39297898
74regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.38461380
75forebrain neuron differentiation (GO:0021879)2.38284903
76positive regulation of steroid hormone secretion (GO:2000833)2.37553769
77positive regulation of oligodendrocyte differentiation (GO:0048714)2.37550028
78regulation of cilium movement (GO:0003352)2.37233544
79phospholipid homeostasis (GO:0055091)2.37104428
80positive regulation of epithelial to mesenchymal transition (GO:0010718)2.36282862
81regulation of timing of cell differentiation (GO:0048505)2.35811526
82myelination in peripheral nervous system (GO:0022011)2.35319567
83peripheral nervous system axon ensheathment (GO:0032292)2.35319567
84anterior/posterior axis specification, embryo (GO:0008595)2.34121686
85embryonic digestive tract morphogenesis (GO:0048557)2.33486587
86regulation of neuroblast proliferation (GO:1902692)2.32261972
87multicellular organism reproduction (GO:0032504)2.31907512
88positive regulation of cartilage development (GO:0061036)2.30248273
89regulation of collateral sprouting (GO:0048670)2.29797556
90xenobiotic catabolic process (GO:0042178)2.29572562
91hindbrain development (GO:0030902)2.29228530
92positive regulation of stem cell differentiation (GO:2000738)2.28733400
93olfactory bulb development (GO:0021772)2.28144571
94positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.25914200
95intestinal epithelial cell development (GO:0060576)2.25657697
96response to pheromone (GO:0019236)2.25571304
97embryonic foregut morphogenesis (GO:0048617)2.23643616
98axonemal dynein complex assembly (GO:0070286)2.22723215
99negative regulation of protein localization to cell surface (GO:2000009)2.22597985
100negative regulation of stem cell proliferation (GO:2000647)2.22165596

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.85066595
2HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.43604493
3CEBPD_23245923_ChIP-Seq_MEFs_Mouse3.39148988
4ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.08582444
5FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.85562874
6POU3F2_20337985_ChIP-ChIP_501MEL_Human2.61198175
7BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.50983174
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.48801127
9AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.44307126
10ZFP57_27257070_Chip-Seq_ESCs_Mouse2.43866382
11SALL1_21062744_ChIP-ChIP_HESCs_Human2.42906539
12FUS_26573619_Chip-Seq_HEK293_Human2.42281013
13PIAS1_25552417_ChIP-Seq_VCAP_Human2.41159471
14VDR_22108803_ChIP-Seq_LS180_Human2.39184039
15* P300_19829295_ChIP-Seq_ESCs_Human2.35577102
16IGF1R_20145208_ChIP-Seq_DFB_Human2.18032839
17CDX2_19796622_ChIP-Seq_MESCs_Mouse2.10256240
18EWS_26573619_Chip-Seq_HEK293_Human2.01772284
19SMAD4_21799915_ChIP-Seq_A2780_Human1.99249966
20SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.95180857
21PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.93694335
22E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.93062344
23EZH2_22144423_ChIP-Seq_EOC_Human1.89669844
24MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.85023495
25UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.78416050
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.74864977
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73974821
28CTBP1_25329375_ChIP-Seq_LNCAP_Human1.68124868
29SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.67341061
30TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66383020
31POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.66383020
32OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.65952197
33BCAT_22108803_ChIP-Seq_LS180_Human1.64849940
34FLI1_27457419_Chip-Seq_LIVER_Mouse1.64826730
35POU5F1_16153702_ChIP-ChIP_HESCs_Human1.62452879
36AR_25329375_ChIP-Seq_VCAP_Human1.61792635
37STAT3_23295773_ChIP-Seq_U87_Human1.58846015
38HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.57116186
39TAF15_26573619_Chip-Seq_HEK293_Human1.55920716
40TCF4_23295773_ChIP-Seq_U87_Human1.51592420
41SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.49922995
42CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.49331172
43ARNT_22903824_ChIP-Seq_MCF-7_Human1.48369638
44RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.42507413
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.41946493
46NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.41851113
47NRF2_20460467_ChIP-Seq_MEFs_Mouse1.41851113
48TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.40340844
49MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.37089966
50AHR_22903824_ChIP-Seq_MCF-7_Human1.36836154
51NR3C1_21868756_ChIP-Seq_MCF10A_Human1.34685361
52RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.33315422
53ZNF217_24962896_ChIP-Seq_MCF-7_Human1.31272020
54SMAD_19615063_ChIP-ChIP_OVARY_Human1.30327073
55TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30253483
56PCGF2_27294783_Chip-Seq_ESCs_Mouse1.29958004
57NANOG_18555785_Chip-Seq_ESCs_Mouse1.29709868
58CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.29494423
59FOXM1_26456572_ChIP-Seq_MCF-7_Human1.29471913
60ZNF274_21170338_ChIP-Seq_K562_Hela1.28320494
61IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.27870388
62CBP_20019798_ChIP-Seq_JUKART_Human1.27870388
63ER_23166858_ChIP-Seq_MCF-7_Human1.26507513
64TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.26142430
65ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.26085471
66TCF4_22108803_ChIP-Seq_LS180_Human1.25156523
67TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22481876
68EZH2_27294783_Chip-Seq_NPCs_Mouse1.21567616
69PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.19101744
70EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.18508704
71RUNX2_22187159_ChIP-Seq_PCA_Human1.17645359
72SOX2_21211035_ChIP-Seq_LN229_Gbm1.17001691
73P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16583110
74LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16563091
75SUZ12_27294783_Chip-Seq_NPCs_Mouse1.15858318
76KLF5_20875108_ChIP-Seq_MESCs_Mouse1.15571930
77AR_21909140_ChIP-Seq_LNCAP_Human1.15094265
78RNF2_27304074_Chip-Seq_NSC_Mouse1.15081745
79EP300_21415370_ChIP-Seq_HL-1_Mouse1.14533170
80SOX2_19829295_ChIP-Seq_ESCs_Human1.13267839
81NANOG_19829295_ChIP-Seq_ESCs_Human1.13267839
82TAL1_26923725_Chip-Seq_HPCs_Mouse1.12950173
83AR_21572438_ChIP-Seq_LNCaP_Human1.12488945
84CBX2_27304074_Chip-Seq_ESCs_Mouse1.11514789
85E2F1_18555785_Chip-Seq_ESCs_Mouse1.09562988
86TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.08706337
87TP53_16413492_ChIP-PET_HCT116_Human1.08000157
88JUN_21703547_ChIP-Seq_K562_Human1.06806547
89NR3C1_23031785_ChIP-Seq_PC12_Mouse1.06506912
90CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.03514565
91SOX9_26525672_Chip-Seq_HEART_Mouse1.03283773
92P53_22387025_ChIP-Seq_ESCs_Mouse1.02739567
93TCF4_18268006_ChIP-ChIP_LS174T_Human1.02435821
94KDM2B_26808549_Chip-Seq_REH_Human1.01838325
95NFE2_27457419_Chip-Seq_LIVER_Mouse1.01797344
96ISL1_27105846_Chip-Seq_CPCs_Mouse1.01120861
97TBX3_20139965_ChIP-Seq_ESCs_Mouse1.00712956
98TP53_18474530_ChIP-ChIP_U2OS_Human0.99871123
99TBX3_20139965_ChIP-Seq_MESCs_Mouse0.99674078
100EZH2_27304074_Chip-Seq_ESCs_Mouse0.99633333

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color3.34903880
2MP0006292_abnormal_olfactory_placode3.06893525
3MP0008004_abnormal_stomach_pH2.40836292
4MP0005248_abnormal_Harderian_gland2.32827860
5MP0009697_abnormal_copulation2.30850952
6MP0010030_abnormal_orbit_morphology2.23576963
7MP0000372_irregular_coat_pigmentation2.19807319
8MP0008775_abnormal_heart_ventricle2.18990302
9MP0002653_abnormal_ependyma_morphology2.18563840
10MP0008789_abnormal_olfactory_epithelium2.14532119
11MP0002102_abnormal_ear_morphology2.00916656
12MP0005171_absent_coat_pigmentation1.99491818
13MP0009053_abnormal_anal_canal1.93667312
14MP0000566_synostosis1.90201867
15MP0002234_abnormal_pharynx_morphology1.89190931
16MP0002233_abnormal_nose_morphology1.88043284
17MP0004084_abnormal_cardiac_muscle1.83033066
18MP0005499_abnormal_olfactory_system1.76524185
19MP0005394_taste/olfaction_phenotype1.76524185
20MP0002938_white_spotting1.76308393
21MP0003937_abnormal_limbs/digits/tail_de1.74456732
22MP0001485_abnormal_pinna_reflex1.74081900
23MP0005187_abnormal_penis_morphology1.73886683
24MP0005623_abnormal_meninges_morphology1.70617232
25MP0004215_abnormal_myocardial_fiber1.66173815
26MP0000049_abnormal_middle_ear1.63335904
27MP0000537_abnormal_urethra_morphology1.62669247
28MP0009780_abnormal_chondrocyte_physiolo1.59143937
29MP0002282_abnormal_trachea_morphology1.56900729
30MP0000383_abnormal_hair_follicle1.55729076
31MP0005253_abnormal_eye_physiology1.53553038
32MP0000428_abnormal_craniofacial_morphol1.51777684
33MP0006054_spinal_hemorrhage1.47356700
34MP0005670_abnormal_white_adipose1.45501917
35MP0005551_abnormal_eye_electrophysiolog1.45064644
36MP0000516_abnormal_urinary_system1.43328968
37MP0005367_renal/urinary_system_phenotyp1.43328968
38MP0006072_abnormal_retinal_apoptosis1.42342910
39MP0003938_abnormal_ear_development1.41636939
40MP0005646_abnormal_pituitary_gland1.38727785
41MP0004036_abnormal_muscle_relaxation1.38378494
42MP0004272_abnormal_basement_membrane1.36400717
43MP0003755_abnormal_palate_morphology1.33814007
44MP0000778_abnormal_nervous_system1.33465461
45MP0002295_abnormal_pulmonary_circulatio1.33219912
46MP0001293_anophthalmia1.33028141
47MP0008057_abnormal_DNA_replication1.28156968
48MP0009250_abnormal_appendicular_skeleto1.26341006
49MP0006276_abnormal_autonomic_nervous1.23327175
50MP0000631_abnormal_neuroendocrine_gland1.23325487
51MP0004145_abnormal_muscle_electrophysio1.22307446
52MP0008877_abnormal_DNA_methylation1.20721132
53MP0001299_abnormal_eye_distance/1.20716353
54MP0010368_abnormal_lymphatic_system1.20530241
55MP0005464_abnormal_platelet_physiology1.20394621
56MP0002736_abnormal_nociception_after1.19643703
57MP0005275_abnormal_skin_tensile1.14903946
58MP0010678_abnormal_skin_adnexa1.14500705
59MP0003315_abnormal_perineum_morphology1.13269470
60MP0008438_abnormal_cutaneous_collagen1.12969265
61MP0005503_abnormal_tendon_morphology1.06100516
62MP0003718_maternal_effect1.05016189
63MP0001286_abnormal_eye_development1.04541342
64MP0003950_abnormal_plasma_membrane1.03112175
65MP0003935_abnormal_craniofacial_develop1.03002886
66MP0000432_abnormal_head_morphology1.01827430
67MP0002735_abnormal_chemical_nociception1.00869496
68MP0002090_abnormal_vision1.00555475
69MP0002108_abnormal_muscle_morphology1.00527227
70MP0000647_abnormal_sebaceous_gland0.99789302
71MP0005391_vision/eye_phenotype0.99049665
72MP0003119_abnormal_digestive_system0.98697960
73MP0005195_abnormal_posterior_eye0.97474425
74MP0001177_atelectasis0.96696903
75MP0000026_abnormal_inner_ear0.96416643
76MP0001486_abnormal_startle_reflex0.93702805
77MP0000534_abnormal_ureter_morphology0.92578361
78MP0001661_extended_life_span0.92173382
79MP0000230_abnormal_systemic_arterial0.89369139
80MP0004133_heterotaxia0.88643988
81MP0002751_abnormal_autonomic_nervous0.87389777
82MP0001346_abnormal_lacrimal_gland0.87042290
83MP0006138_congestive_heart_failure0.86154342
84MP0000569_abnormal_digit_pigmentation0.85919172
85MP0001879_abnormal_lymphatic_vessel0.84827752
86MP0000749_muscle_degeneration0.84770320
87MP0003890_abnormal_embryonic-extraembry0.84707729
88MP0005410_abnormal_fertilization0.84569925
89MP0005620_abnormal_muscle_contractility0.83556146
90MP0003385_abnormal_body_wall0.83485265
91MP0002160_abnormal_reproductive_system0.82764570
92MP0002116_abnormal_craniofacial_bone0.81307429
93MP0005395_other_phenotype0.79492761
94MP0002115_abnormal_skeleton_extremities0.76041125
95MP0005647_abnormal_sex_gland0.75712628
96MP0002084_abnormal_developmental_patter0.75331912
97MP0002697_abnormal_eye_size0.75004851
98MP0003942_abnormal_urinary_system0.74232176
99MP0002111_abnormal_tail_morphology0.74095318
100MP0002752_abnormal_somatic_nervous0.73776976

Predicted human phenotypes

RankGene SetZ-score
1Short 4th metacarpal (HP:0010044)3.86843483
2Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.86843483
3Volvulus (HP:0002580)3.77192622
4Vitreoretinal degeneration (HP:0000655)3.66704518
5Dyschromatopsia (HP:0007641)3.46829518
6Abnormality of the ischium (HP:0003174)3.22069092
7Intestinal atresia (HP:0011100)3.18373416
8Increased mean platelet volume (HP:0011877)3.12492062
9Hypoplastic ischia (HP:0003175)3.05768278
10Pancreatic fibrosis (HP:0100732)2.83849221
11Optic nerve hypoplasia (HP:0000609)2.76911231
12True hermaphroditism (HP:0010459)2.71531109
13Menorrhagia (HP:0000132)2.69090416
14Long clavicles (HP:0000890)2.67856987
15Ectopic kidney (HP:0000086)2.67841397
16Abnormality of the 4th metacarpal (HP:0010012)2.66941957
17Short 1st metacarpal (HP:0010034)2.66121628
18Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.66121628
19Decreased muscle mass (HP:0003199)2.64204396
20Pancreatic cysts (HP:0001737)2.64173103
21Abnormal platelet volume (HP:0011876)2.58935133
22Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.57761873
23Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.54735500
24Gastrointestinal atresia (HP:0002589)2.51275066
25Nephronophthisis (HP:0000090)2.49994682
26Aplasia/Hypoplasia of the tongue (HP:0010295)2.48643262
27Abnormality of the proximal phalanges of the hand (HP:0009834)2.47935117
28Abnormality of the renal cortex (HP:0011035)2.43507064
29Abnormality of the 1st metacarpal (HP:0010009)2.41974730
30Abnormal ciliary motility (HP:0012262)2.40388060
31Prolonged bleeding time (HP:0003010)2.38384501
32Abnormality of the labia minora (HP:0012880)2.36675147
33Hypoplastic iliac wings (HP:0002866)2.32467460
34Molar tooth sign on MRI (HP:0002419)2.31451589
35Abnormality of midbrain morphology (HP:0002418)2.31451589
36Short phalanx of the thumb (HP:0009660)2.30927679
37Renal hypoplasia (HP:0000089)2.29828309
38Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)2.27535188
39Cutaneous finger syndactyly (HP:0010554)2.27472509
40Chronic hepatic failure (HP:0100626)2.24439917
41Tented upper lip vermilion (HP:0010804)2.24437157
42Abnormality of the aortic arch (HP:0012303)2.23651894
43Abnormality of the renal medulla (HP:0100957)2.21962833
44Aortic aneurysm (HP:0004942)2.20614582
45Tubular atrophy (HP:0000092)2.19716618
46Absent rod-and cone-mediated responses on ERG (HP:0007688)2.17117417
47Petechiae (HP:0000967)2.17038493
48Abnormal biliary tract physiology (HP:0012439)2.12839383
49Bile duct proliferation (HP:0001408)2.12839383
50Abnormality of the antihelix (HP:0009738)2.12489335
51Septo-optic dysplasia (HP:0100842)2.10218591
52Dynein arm defect of respiratory motile cilia (HP:0012255)2.08756962
53Absent/shortened dynein arms (HP:0200106)2.08756962
54Abnormality of lateral ventricle (HP:0030047)2.08271986
55Occipital encephalocele (HP:0002085)2.03537574
56Esophageal atresia (HP:0002032)2.00647012
57Tubulointerstitial nephritis (HP:0001970)1.98614822
58Intellectual disability, moderate (HP:0002342)1.93441675
59Postaxial foot polydactyly (HP:0001830)1.90034722
60Decreased central vision (HP:0007663)1.89287337
61Aqueductal stenosis (HP:0002410)1.88779333
62Rib fusion (HP:0000902)1.88052556
63Gonadotropin excess (HP:0000837)1.87472597
64Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.86128343
65Abnormal respiratory motile cilium physiology (HP:0012261)1.85718089
66Keratoconus (HP:0000563)1.83755215
67Increased corneal curvature (HP:0100692)1.83755215
68Abnormality of the phalanges of the 2nd finger (HP:0009541)1.79503034
69Renal cortical cysts (HP:0000803)1.79387357
70Preaxial foot polydactyly (HP:0001841)1.78459537
71Cystic liver disease (HP:0006706)1.78253033
72Abnormal drinking behavior (HP:0030082)1.78054431
73Polydipsia (HP:0001959)1.78054431
74Fibular hypoplasia (HP:0003038)1.76262897
75Rhinitis (HP:0012384)1.75653488
76Type 2 muscle fiber atrophy (HP:0003554)1.75204382
77Congenital sensorineural hearing impairment (HP:0008527)1.73815524
78Short tibia (HP:0005736)1.73799131
79Cutaneous syndactyly (HP:0012725)1.73536104
80Postaxial hand polydactyly (HP:0001162)1.71425538
81Anophthalmia (HP:0000528)1.69940872
82Synostosis of carpal bones (HP:0005048)1.69912604
83Microglossia (HP:0000171)1.69283206
84Termporal pattern (HP:0011008)1.69219881
85Insidious onset (HP:0003587)1.69219881
86Aplasia/Hypoplasia of the tibia (HP:0005772)1.68791752
87Abnormal auditory evoked potentials (HP:0006958)1.68382842
88Medial flaring of the eyebrow (HP:0010747)1.66862477
89Anencephaly (HP:0002323)1.65581437
90Atonic seizures (HP:0010819)1.63301041
91Abnormality of incisor morphology (HP:0011063)1.62962035
92Abnormality of the middle phalanges of the toes (HP:0010183)1.62167335
93Hemivertebrae (HP:0002937)1.62040063
94Short hallux (HP:0010109)1.61419785
95Hypoplasia of the iris (HP:0007676)1.61362369
96Broad phalanx (HP:0006009)1.60494437
97Microtia (HP:0008551)1.59771322
98Broad thumb (HP:0011304)1.59099373
99Bifid scrotum (HP:0000048)1.59092761
100Genital tract atresia (HP:0001827)1.58711353

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK3.04104810
2MAP4K22.84728440
3TNIK2.84017539
4PLK22.66718514
5CAMK1G2.52978089
6MUSK2.41536568
7MYLK2.41516486
8STK38L2.35970391
9LATS12.32983318
10PINK12.12751247
11BMPR1B2.05210936
12STK31.94498407
13CAMK1D1.88527203
14PNCK1.87683329
15ACVR1B1.85121584
16WNK31.83355769
17EPHA41.82565193
18MAP3K91.81051829
19AKT31.68918938
20FGFR21.65154149
21CASK1.60441745
22NUAK11.57484890
23CCNB11.49651770
24NLK1.45437146
25STK391.43874248
26PTK2B1.43428579
27GRK11.41379404
28ZAK1.36954557
29MARK11.33536633
30TRIM281.27817049
31MKNK21.27365987
32MKNK11.23369783
33PIK3CA1.22625178
34PLK31.20554071
35EIF2AK11.17816063
36TIE11.17638965
37PKN21.15793715
38WNK41.15360922
39SGK21.14821385
40MST41.14059819
41PIK3CG1.13735260
42EPHB21.13613338
43BRSK21.09863862
44MARK31.03890122
45TGFBR11.01826958
46WEE11.01743603
47PAK30.99647075
48CSNK1G10.95547942
49PLK40.91779240
50FLT30.90337375
51FER0.89728931
52MAP3K40.88913591
53GRK50.87802630
54OBSCN0.86302116
55MAPK130.84167953
56ROCK10.81659217
57SGK30.79276450
58SGK4940.78563862
59SGK2230.78563862
60BMX0.77005354
61VRK10.74121089
62FGR0.72136649
63DDR20.70825732
64CDK190.70135859
65PRKCE0.67633202
66EPHA30.65879982
67CDC70.64889617
68TNK20.63482714
69NEK90.63282833
70PRKG10.61319396
71ADRBK20.59013403
72CSNK1A1L0.57757947
73MINK10.55225631
74BCR0.53391862
75ILK0.52852651
76CAMK10.51468549
77PAK20.50827768
78TLK10.50013192
79CSNK1G20.49217983
80WNK10.48750397
81CSNK1G30.48489280
82PLK10.48462511
83MAP2K10.48273346
84DYRK20.47961167
85EIF2AK30.47307261
86PKN10.47134446
87NEK20.46764287
88MELK0.43875196
89PBK0.43457017
90CDK90.43217288
91ATM0.43015789
92PRKD20.42010726
93FGFR10.41206686
94LATS20.39887059
95ERBB20.38268904
96AURKB0.36085966
97CSNK1D0.35941757
98PAK10.35449285
99CDK30.35181018
100MET0.34926948

Predicted pathways (KEGG)

RankGene SetZ-score
1Hedgehog signaling pathway_Homo sapiens_hsa043402.76311835
2Propanoate metabolism_Homo sapiens_hsa006402.68562156
3ECM-receptor interaction_Homo sapiens_hsa045122.59297500
4Non-homologous end-joining_Homo sapiens_hsa034502.47684622
5Nitrogen metabolism_Homo sapiens_hsa009102.17950163
6TGF-beta signaling pathway_Homo sapiens_hsa043502.00185611
7Fatty acid biosynthesis_Homo sapiens_hsa000611.97352482
8Steroid biosynthesis_Homo sapiens_hsa001001.90916237
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.81649710
10Platelet activation_Homo sapiens_hsa046111.70484790
11Hippo signaling pathway_Homo sapiens_hsa043901.69895223
12Basal cell carcinoma_Homo sapiens_hsa052171.64896628
13Basal transcription factors_Homo sapiens_hsa030221.63561969
14Vascular smooth muscle contraction_Homo sapiens_hsa042701.52373504
15Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.49825387
16Adherens junction_Homo sapiens_hsa045201.49366175
17Gap junction_Homo sapiens_hsa045401.48809507
18Fanconi anemia pathway_Homo sapiens_hsa034601.40846859
19Phototransduction_Homo sapiens_hsa047441.40806393
20Systemic lupus erythematosus_Homo sapiens_hsa053221.38238229
21Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.34855312
22Alcoholism_Homo sapiens_hsa050341.32521671
23Wnt signaling pathway_Homo sapiens_hsa043101.31456542
24Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.30755116
25Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.19867541
26Dilated cardiomyopathy_Homo sapiens_hsa054141.19193851
27beta-Alanine metabolism_Homo sapiens_hsa004101.16855883
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.16330008
29Chemical carcinogenesis_Homo sapiens_hsa052041.15043480
30Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.14713521
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.14497721
32Olfactory transduction_Homo sapiens_hsa047401.13006592
33Oocyte meiosis_Homo sapiens_hsa041141.10323188
34Lysine degradation_Homo sapiens_hsa003101.09127740
35Glutathione metabolism_Homo sapiens_hsa004801.07985862
36Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.07598518
37Taste transduction_Homo sapiens_hsa047421.06440203
38Cell cycle_Homo sapiens_hsa041101.05903179
39Glycerolipid metabolism_Homo sapiens_hsa005611.04921177
40Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.02646610
41Tight junction_Homo sapiens_hsa045301.02571372
42Butanoate metabolism_Homo sapiens_hsa006501.01784005
43Circadian rhythm_Homo sapiens_hsa047100.99506059
44Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.98102412
45One carbon pool by folate_Homo sapiens_hsa006700.97317691
46Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.95937686
47Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.91979149
48Focal adhesion_Homo sapiens_hsa045100.91771184
49Protein digestion and absorption_Homo sapiens_hsa049740.88291620
50Prostate cancer_Homo sapiens_hsa052150.87225143
51Morphine addiction_Homo sapiens_hsa050320.86378516
52Circadian entrainment_Homo sapiens_hsa047130.86124687
53Nicotine addiction_Homo sapiens_hsa050330.80741503
54Melanoma_Homo sapiens_hsa052180.80645819
55Fat digestion and absorption_Homo sapiens_hsa049750.80363233
56Pyruvate metabolism_Homo sapiens_hsa006200.79432260
57Tryptophan metabolism_Homo sapiens_hsa003800.79055502
58Steroid hormone biosynthesis_Homo sapiens_hsa001400.78632794
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.78437363
60Purine metabolism_Homo sapiens_hsa002300.75697489
61Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.75478884
62cGMP-PKG signaling pathway_Homo sapiens_hsa040220.74985240
63Renin secretion_Homo sapiens_hsa049240.74156022
64Calcium signaling pathway_Homo sapiens_hsa040200.73165794
65Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.72322881
66Mismatch repair_Homo sapiens_hsa034300.69782941
67Homologous recombination_Homo sapiens_hsa034400.69387582
68Pentose and glucuronate interconversions_Homo sapiens_hsa000400.69087932
69Renin-angiotensin system_Homo sapiens_hsa046140.68073696
70Arachidonic acid metabolism_Homo sapiens_hsa005900.66866105
71Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.66677903
72ABC transporters_Homo sapiens_hsa020100.65648562
73Serotonergic synapse_Homo sapiens_hsa047260.65448840
74GABAergic synapse_Homo sapiens_hsa047270.65032223
75Peroxisome_Homo sapiens_hsa041460.64944553
76Cysteine and methionine metabolism_Homo sapiens_hsa002700.62511537
77Melanogenesis_Homo sapiens_hsa049160.62507769
78SNARE interactions in vesicular transport_Homo sapiens_hsa041300.62426631
79Pathways in cancer_Homo sapiens_hsa052000.61349947
80Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.60703839
81Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.58732919
82Colorectal cancer_Homo sapiens_hsa052100.58295376
83RNA degradation_Homo sapiens_hsa030180.58283794
84Retinol metabolism_Homo sapiens_hsa008300.57965220
85alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.57432180
86Salivary secretion_Homo sapiens_hsa049700.57296822
87Huntingtons disease_Homo sapiens_hsa050160.57230964
88Notch signaling pathway_Homo sapiens_hsa043300.56034076
89PI3K-Akt signaling pathway_Homo sapiens_hsa041510.53809631
90Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.52780522
91Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.52240272
92Sulfur metabolism_Homo sapiens_hsa009200.50895313
93Small cell lung cancer_Homo sapiens_hsa052220.49479847
94Primary bile acid biosynthesis_Homo sapiens_hsa001200.49305802
95cAMP signaling pathway_Homo sapiens_hsa040240.49286362
96MicroRNAs in cancer_Homo sapiens_hsa052060.49227398
97Fatty acid elongation_Homo sapiens_hsa000620.46949696
982-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.46376245
99Axon guidance_Homo sapiens_hsa043600.45548577
100Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.45530989

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