SEMG1

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: The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein is proteolytically processed by the prostate-specific antigen (PSA) protease to generate multiple peptide products that exhibit distinct functions. One of these peptides, SgI-29, is an antimicrobial peptide with antibacterial activity. This proteolysis process also breaks down the gel matrix and allows the spermatozoa to move more freely. This gene and another similar semenogelin gene are present in a gene cluster on chromosome 20. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)8.69473009
2regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033398.58702552
3prostanoid metabolic process (GO:0006692)8.35365659
4prostaglandin metabolic process (GO:0006693)8.35365659
5mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)7.79680330
6collecting duct development (GO:0072044)7.76783358
7nephron tubule formation (GO:0072079)7.67509305
8pattern specification involved in kidney development (GO:0061004)7.52036368
9mesonephros development (GO:0001823)7.46531560
10maintenance of gastrointestinal epithelium (GO:0030277)7.34106758
11urogenital system development (GO:0001655)7.27598009
12metanephric tubule development (GO:0072170)7.25053816
13metanephric nephron tubule development (GO:0072234)7.25053816
14negative regulation of metanephros development (GO:0072217)7.24380593
15reproduction (GO:0000003)7.15526389
16metanephric nephron epithelium development (GO:0072243)6.58084316
17regulation of apoptotic process involved in morphogenesis (GO:1902337)6.29705449
18negative regulation of mesenchymal cell apoptotic process (GO:2001054)6.15430291
19metanephric epithelium development (GO:0072207)6.05912679
20epithelial structure maintenance (GO:0010669)5.82670927
21endocrine hormone secretion (GO:0060986)5.55174224
22regulation of hippo signaling (GO:0035330)5.42792230
23fibroblast migration (GO:0010761)5.26572867
24regulation of nephron tubule epithelial cell differentiation (GO:0072182)5.21337051
25cell differentiation involved in metanephros development (GO:0072202)5.05118604
26regulation of mesenchymal cell apoptotic process (GO:2001053)5.05055179
27nephron tubule development (GO:0072080)4.80032659
28positive regulation of metanephros development (GO:0072216)4.75867066
29regulation of stem cell maintenance (GO:2000036)4.68974882
30specification of organ identity (GO:0010092)4.67383466
31regulation of epithelial cell differentiation involved in kidney development (GO:2000696)4.57619436
32mesenchymal cell differentiation involved in kidney development (GO:0072161)4.55316237
33mesenchymal cell differentiation involved in renal system development (GO:2001012)4.55316237
34metanephric mesenchyme development (GO:0072075)4.54760899
35sodium-independent organic anion transport (GO:0043252)4.45682462
36negative regulation of kidney development (GO:0090185)4.28924998
37urinary tract smooth muscle contraction (GO:0014848)4.23174203
38positive regulation of glomerulus development (GO:0090193)4.21611970
39renal tubule development (GO:0061326)4.20617389
40cranial nerve morphogenesis (GO:0021602)4.20001463
41mesenchymal to epithelial transition (GO:0060231)4.19461419
42anterior/posterior axis specification, embryo (GO:0008595)4.13886806
43cranial nerve structural organization (GO:0021604)4.03742507
44kidney mesenchyme development (GO:0072074)3.91520722
45positive regulation of digestive system process (GO:0060456)3.80694846
46nephron epithelium development (GO:0072009)3.78866544
47ectodermal placode formation (GO:0060788)3.65575239
48regulation of fatty acid oxidation (GO:0046320)3.65117109
49transcytosis (GO:0045056)3.58240241
50positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)3.56251125
51fatty acid derivative transport (GO:1901571)3.50231240
52icosanoid transport (GO:0071715)3.50231240
53tonic smooth muscle contraction (GO:0014820)3.40633991
54definitive hemopoiesis (GO:0060216)3.37890374
55positive regulation of hormone metabolic process (GO:0032352)3.37751532
56smooth muscle contraction (GO:0006939)3.29944061
57muscle cell fate commitment (GO:0042693)3.29588188
58polarized epithelial cell differentiation (GO:0030859)3.26731255
59cardiovascular system development (GO:0072358)3.23815378
60negative regulation of translation, ncRNA-mediated (GO:0040033)3.22322956
61regulation of translation, ncRNA-mediated (GO:0045974)3.22322956
62negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.22322956
63hypotonic response (GO:0006971)3.18820274
64thyroid gland development (GO:0030878)3.17319392
65regulation of metanephros development (GO:0072215)3.13116138
66regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.11685119
67positive regulation of mesonephros development (GO:0061213)3.11043093
68mammary gland development (GO:0030879)3.09686744
69endothelial cell chemotaxis (GO:0035767)3.07221061
70toxin transport (GO:1901998)3.04335380
71fusion of sperm to egg plasma membrane (GO:0007342)3.02934024
72endocardial cushion morphogenesis (GO:0003203)3.01787931
73sexual reproduction (GO:0019953)25.6117313
74extracellular matrix assembly (GO:0085029)2.98490052
75positive regulation of action potential (GO:0045760)2.95598583
76regulation of branching involved in ureteric bud morphogenesis (GO:0090189)2.93711876
77cardiac muscle cell development (GO:0055013)2.92255993
78negative regulation of anoikis (GO:2000811)2.81107813
79negative regulation of myoblast differentiation (GO:0045662)2.81013543
80regulation of acyl-CoA biosynthetic process (GO:0050812)2.78739602
81cardiac cell development (GO:0055006)2.74560601
82adherens junction assembly (GO:0034333)2.74401245
83mesenchyme morphogenesis (GO:0072132)2.73763857
84insulin-like growth factor receptor signaling pathway (GO:0048009)2.72665033
85outflow tract septum morphogenesis (GO:0003148)2.67216959
86anatomical structure arrangement (GO:0048532)2.63345118
87regulation of mesonephros development (GO:0061217)2.63241839
88apical protein localization (GO:0045176)2.63026046
89regulation of glomerulus development (GO:0090192)2.60734431
90synaptic vesicle docking involved in exocytosis (GO:0016081)2.60541060
91negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.54416474
92coenzyme catabolic process (GO:0009109)2.53050749
93embryonic epithelial tube formation (GO:0001838)2.46950387
94positive regulation of glycogen biosynthetic process (GO:0045725)2.46759365
95female genitalia development (GO:0030540)2.46642802
96positive regulation of fatty acid oxidation (GO:0046321)2.46082400
97regulation of acrosome reaction (GO:0060046)2.45191900
98cell-substrate junction assembly (GO:0007044)2.40715547
99embryonic camera-type eye morphogenesis (GO:0048596)2.40225619
100epithelial tube formation (GO:0072175)2.40116944

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IKZF1_21737484_ChIP-ChIP_HCT116_Human4.38765015
2VDR_22108803_ChIP-Seq_LS180_Human3.82400166
3EZH2_22144423_ChIP-Seq_EOC_Human2.66557642
4ZNF217_24962896_ChIP-Seq_MCF-7_Human2.64020888
5ESR2_21235772_ChIP-Seq_MCF-7_Human2.50739957
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.43740713
7DROSHA_22980978_ChIP-Seq_HELA_Human2.43361627
8ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.40738352
9AHR_22903824_ChIP-Seq_MCF-7_Human2.36605646
10ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.30321265
11ARNT_22903824_ChIP-Seq_MCF-7_Human2.29888259
12TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.24583763
13SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.23790208
14ESR1_21235772_ChIP-Seq_MCF-7_Human2.20278318
15NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.13414522
16TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.12935997
17TDRD3_21172665_ChIP-Seq_MCF-7_Human1.99064087
18CTNNB1_20460455_ChIP-Seq_HCT116_Human1.98409343
19EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.92232365
20PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.82647023
21CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.80453334
22NFIB_24661679_ChIP-Seq_LUNG_Mouse1.70065082
23SMAD3_21741376_ChIP-Seq_HESCs_Human1.69436590
24EP300_21415370_ChIP-Seq_HL-1_Mouse1.61034064
25TP53_16413492_ChIP-PET_HCT116_Human1.55570226
26RUNX1_27514584_Chip-Seq_MCF-7_Human1.49995817
27SOX9_24532713_ChIP-Seq_HFSC_Mouse1.48136503
28RNF2_18974828_ChIP-Seq_MESCs_Mouse1.48125224
29EZH2_18974828_ChIP-Seq_MESCs_Mouse1.48125224
30WT1_25993318_ChIP-Seq_PODOCYTE_Human1.47201417
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.46671633
32SMAD_19615063_ChIP-ChIP_OVARY_Human1.46125229
33WDR5_24793694_ChIP-Seq_LNCAP_Human1.41247621
34TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.41099665
35AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.40223300
36PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.39149887
37SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.38968004
38SMAD4_21741376_ChIP-Seq_HESCs_Human1.38926369
39EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.38040251
40DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.37414533
41VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.37222812
42ISL1_27105846_Chip-Seq_CPCs_Mouse1.34012325
43JARID2_20075857_ChIP-Seq_MESCs_Mouse1.33079856
44LXR_22158963_ChIP-Seq_LIVER_Mouse1.32688835
45FOXO3_23340844_ChIP-Seq_DLD1_Human1.32610351
46AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.32425944
47CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32044737
48EED_16625203_ChIP-ChIP_MESCs_Mouse1.30182381
49GATA2_21666600_ChIP-Seq_HMVEC_Human1.29795913
50ESR1_20079471_ChIP-ChIP_T-47D_Human1.29183295
51TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27497268
52FOXA2_19822575_ChIP-Seq_HepG2_Human1.27086235
53TP63_19390658_ChIP-ChIP_HaCaT_Human1.24321577
54AR_25329375_ChIP-Seq_VCAP_Human1.23749757
55JARID2_20064375_ChIP-Seq_MESCs_Mouse1.18796251
56VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.15364283
57SOX2_27498859_Chip-Seq_STOMACH_Mouse1.14845727
58WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.14420309
59SCL_19346495_ChIP-Seq_HPC-7_Human1.13481108
60CLOCK_20551151_ChIP-Seq_293T_Human1.13102141
61CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.12500916
62ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.12210262
63* RUNX2_22187159_ChIP-Seq_PCA_Human1.10053671
64EZH2_27304074_Chip-Seq_ESCs_Mouse1.09509088
65BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08738189
66GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07512931
67OCT1_27270436_Chip-Seq_PROSTATE_Human1.07071255
68SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.05862535
69RARG_19884340_ChIP-ChIP_MEFs_Mouse1.04818114
70RNF2_27304074_Chip-Seq_ESCs_Mouse1.02721348
71UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.02575433
72GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.02010119
73SMAD4_21799915_ChIP-Seq_A2780_Human1.00817678
74HIF1A_21447827_ChIP-Seq_MCF-7_Human1.00625022
75KDM2B_26808549_Chip-Seq_K562_Human0.99988892
76AR_21572438_ChIP-Seq_LNCaP_Human0.99846943
77CTBP2_25329375_ChIP-Seq_LNCAP_Human0.99243473
78PPAR_26484153_Chip-Seq_NCI-H1993_Human0.97472469
79SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.97458788
80KDM2B_26808549_Chip-Seq_REH_Human0.97259689
81RING1B_27294783_Chip-Seq_NPCs_Mouse0.96603726
82AR_19668381_ChIP-Seq_PC3_Human0.96212908
83TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.94742369
84LXR_22292898_ChIP-Seq_THP-1_Human0.94605631
85SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.94444026
86GF1_26923725_Chip-Seq_HPCs_Mouse0.94172709
87GATA3_24758297_ChIP-Seq_MCF-7_Human0.93858565
88SMC4_20622854_ChIP-Seq_HELA_Human0.93735731
89TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93339460
90POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.93339460
91* STAT3_23295773_ChIP-Seq_U87_Human0.93128780
92TBX20_22080862_ChIP-Seq_HEART_Mouse0.93015313
93TBX20_22328084_ChIP-Seq_HEART_Mouse0.93015313
94CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.91827914
95GATA4_25053715_ChIP-Seq_YYC3_Human0.90822074
96TP53_23651856_ChIP-Seq_MEFs_Mouse0.90282355
97PIAS1_25552417_ChIP-Seq_VCAP_Human0.90235144
98STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.89579671
99ZFP281_27345836_Chip-Seq_ESCs_Mouse0.89520208
100GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.89390154

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005670_abnormal_white_adipose6.26467875
2MP0010386_abnormal_urinary_bladder5.66887523
3MP0008004_abnormal_stomach_pH5.01778549
4MP0002653_abnormal_ependyma_morphology4.14509650
5MP0000534_abnormal_ureter_morphology3.30078820
6MP0002282_abnormal_trachea_morphology2.91193721
7MP0000538_abnormal_urinary_bladder2.84819112
8MP0003879_abnormal_hair_cell2.81020990
9MP0003938_abnormal_ear_development2.44101747
10MP0005360_urolithiasis2.43663715
11MP0002876_abnormal_thyroid_physiology2.42257257
12MP0004036_abnormal_muscle_relaxation2.34699749
13MP0005666_abnormal_adipose_tissue2.33645714
14MP0001756_abnormal_urination2.23349663
15MP0000767_abnormal_smooth_muscle2.21910408
16MP0001664_abnormal_digestion2.21007040
17MP0000462_abnormal_digestive_system2.15864214
18MP0003045_fibrosis2.05472237
19MP0008961_abnormal_basal_metabolism2.05016461
20MP0005646_abnormal_pituitary_gland1.94631978
21MP0003566_abnormal_cell_adhesion1.84703699
22MP0005076_abnormal_cell_differentiation1.78602229
23MP0005375_adipose_tissue_phenotype1.75534564
24MP0002638_abnormal_pupillary_reflex1.74851857
25MP0003942_abnormal_urinary_system1.66412496
26MP0001501_abnormal_sleep_pattern1.66086032
27MP0000013_abnormal_adipose_tissue1.60311974
28MP0000681_abnormal_thyroid_gland1.59021449
29MP0001958_emphysema1.57821056
30MP0005620_abnormal_muscle_contractility1.49901577
31MP0001270_distended_abdomen1.46037303
32MP0000230_abnormal_systemic_arterial1.44383163
33MP0003936_abnormal_reproductive_system1.43315815
34MP0000566_synostosis1.41762695
35MP0005595_abnormal_vascular_smooth1.41584720
36MP0004145_abnormal_muscle_electrophysio1.38135510
37MP0000049_abnormal_middle_ear1.37566800
38MP0000631_abnormal_neuroendocrine_gland1.36947904
39MP0002249_abnormal_larynx_morphology1.32245446
40MP0002168_other_aberrant_phenotype1.28832680
41MP0001727_abnormal_embryo_implantation1.26862941
42MP0003950_abnormal_plasma_membrane1.26122300
43MP0005367_renal/urinary_system_phenotyp1.25973689
44MP0000516_abnormal_urinary_system1.25973689
45MP0008057_abnormal_DNA_replication1.19530569
46MP0001348_abnormal_lacrimal_gland1.18662943
47MP0005410_abnormal_fertilization1.14837808
48MP0002127_abnormal_cardiovascular_syste1.09817302
49MP0005330_cardiomyopathy1.07407790
50MP0010352_gastrointestinal_tract_polyps1.06709948
51MP0001502_abnormal_circadian_rhythm1.04943813
52MP0002332_abnormal_exercise_endurance1.00285502
53MP0008569_lethality_at_weaning0.99680091
54MP0000003_abnormal_adipose_tissue0.97558750
55MP0000163_abnormal_cartilage_morphology0.95493619
56MP0000751_myopathy0.89819685
57MP0009115_abnormal_fat_cell0.89617915
58MP0005381_digestive/alimentary_phenotyp0.88793807
59MP0002933_joint_inflammation0.85417183
60MP0001731_abnormal_postnatal_growth0.84939406
61MP0002925_abnormal_cardiovascular_devel0.80460579
62MP0005023_abnormal_wound_healing0.80391920
63MP0002116_abnormal_craniofacial_bone0.76764255
64MP0002115_abnormal_skeleton_extremities0.75260689
65MP0002108_abnormal_muscle_morphology0.75108684
66MP0003935_abnormal_craniofacial_develop0.74653790
67MP0001485_abnormal_pinna_reflex0.74583675
68MP0002009_preneoplasia0.71530503
69MP0000383_abnormal_hair_follicle0.70619347
70MP0000026_abnormal_inner_ear0.70499342
71MP0003705_abnormal_hypodermis_morpholog0.69395576
72MP0000627_abnormal_mammary_gland0.68681556
73MP0001968_abnormal_touch/_nociception0.66148015
74MP0003698_abnormal_male_reproductive0.64667384
75MP0000537_abnormal_urethra_morphology0.64420539
76MP0002109_abnormal_limb_morphology0.64250021
77MP0004808_abnormal_hematopoietic_stem0.64236235
78MP0002135_abnormal_kidney_morphology0.62154739
79MP0002932_abnormal_joint_morphology0.62074002
80MP0005332_abnormal_amino_acid0.62057843
81MP0002896_abnormal_bone_mineralization0.62057547
82MP0001984_abnormal_olfaction0.60905176
83MP0001614_abnormal_blood_vessel0.60361300
84MP0003953_abnormal_hormone_level0.59999079
85MP0004130_abnormal_muscle_cell0.59722914
86MP0003868_abnormal_feces_composition0.59506478
87MP0003137_abnormal_impulse_conducting0.58070665
88MP0001175_abnormal_lung_morphology0.57851210
89MP0002114_abnormal_axial_skeleton0.56918534
90MP0008875_abnormal_xenobiotic_pharmacok0.55858591
91MP0004087_abnormal_muscle_fiber0.55815117
92MP0002082_postnatal_lethality0.54835736
93MP0010770_preweaning_lethality0.54835736
94MP0005164_abnormal_response_to0.54058509
95MP0000432_abnormal_head_morphology0.54047387
96MP0004084_abnormal_cardiac_muscle0.53178349
97MP0001963_abnormal_hearing_physiology0.51882071
98MP0004185_abnormal_adipocyte_glucose0.51693922
99MP0001188_hyperpigmentation0.51134114
100MP0000266_abnormal_heart_morphology0.50941624

Predicted human phenotypes

RankGene SetZ-score
1Progressive cerebellar ataxia (HP:0002073)8.15446473
2Aortic aneurysm (HP:0004942)8.05469615
3Abnormality of secondary sexual hair (HP:0009888)5.69028860
4Abnormality of the axillary hair (HP:0100134)5.69028860
5Shawl scrotum (HP:0000049)5.39578806
6Aortic dissection (HP:0002647)5.39365599
7Sparse lateral eyebrow (HP:0005338)4.96058516
8Thyroid-stimulating hormone excess (HP:0002925)4.45346959
9Genetic anticipation (HP:0003743)4.43030830
10Potter facies (HP:0002009)4.37084399
11Facial shape deformation (HP:0011334)4.37084399
12Neoplasm of the heart (HP:0100544)4.20043766
13Aplasia of the musculature (HP:0100854)4.10120390
14Breast hypoplasia (HP:0003187)4.00721423
15Bronchomalacia (HP:0002780)3.93287721
16Dysmetric saccades (HP:0000641)3.77912240
17Hypothermia (HP:0002045)3.77753788
18Hypoplastic nipples (HP:0002557)3.76000956
19Cerebral palsy (HP:0100021)3.69049228
20Aortic regurgitation (HP:0001659)3.50776798
21Anal stenosis (HP:0002025)3.39476041
22Growth hormone excess (HP:0000845)3.39382715
23Hyperpituitarism (HP:0010514)3.20847215
24Laryngomalacia (HP:0001601)3.19843117
25Clubbing of toes (HP:0100760)3.03032366
26Seborrheic dermatitis (HP:0001051)2.96606952
27Broad face (HP:0000283)2.89326572
28Limb ataxia (HP:0002070)2.88469875
29Malnutrition (HP:0004395)2.87253397
30Prolonged QT interval (HP:0001657)2.76863443
31Abnormality of macular pigmentation (HP:0008002)2.72259379
32Urethral obstruction (HP:0000796)2.68593779
33Hypoplastic scapulae (HP:0000882)2.68338622
34Aplasia/Hypoplasia of the scapulae (HP:0006713)2.68338622
35Short humerus (HP:0005792)2.58278394
36Short clavicles (HP:0000894)2.57773902
37Abdominal situs inversus (HP:0003363)2.57029117
38Abnormality of abdominal situs (HP:0011620)2.57029117
39Absent hand (HP:0004050)2.56969772
40Hyperventilation (HP:0002883)2.54036183
41Bicornuate uterus (HP:0000813)2.51264985
42Chorioretinal atrophy (HP:0000533)2.45711086
43Supernumerary ribs (HP:0005815)2.45350176
44Absent radius (HP:0003974)2.44219883
45Renal dysplasia (HP:0000110)2.34061716
46Midline defect of the nose (HP:0004122)2.32684873
47Obstructive sleep apnea (HP:0002870)2.32328208
48Abnormality of the distal phalanx of the thumb (HP:0009617)2.31562091
49Shallow orbits (HP:0000586)2.31124431
50Aplasia/hypoplasia of the humerus (HP:0006507)2.30313630
51Aneurysm (HP:0002617)2.29265381
52Supernumerary bones of the axial skeleton (HP:0009144)2.28115107
53Aplasia involving forearm bones (HP:0009822)2.27940735
54Absent forearm bone (HP:0003953)2.27940735
55Optic nerve coloboma (HP:0000588)2.27161131
56Tracheomalacia (HP:0002779)2.25878429
57Gonadotropin excess (HP:0000837)2.25854138
58Aplasia/Hypoplasia of the clavicles (HP:0006710)2.23569709
59Hemorrhage of the eye (HP:0011885)2.19466256
60Hypoplasia of the ulna (HP:0003022)2.14071273
61Protruding tongue (HP:0010808)2.13835321
62Long toe (HP:0010511)2.13481686
63Macroglossia (HP:0000158)2.11985132
64Ureteral stenosis (HP:0000071)2.11127710
65Abnormality of the nasal septum (HP:0000419)2.09525024
66Pigmentary retinal degeneration (HP:0001146)2.08806671
67Abnormality of the fingertips (HP:0001211)2.08298466
68Aplasia/Hypoplasia involving the musculature (HP:0001460)2.07500980
69Clumsiness (HP:0002312)2.01740048
70Sandal gap (HP:0001852)2.01132307
71Bicuspid aortic valve (HP:0001647)1.98430483
72Hypoplastic labia majora (HP:0000059)1.96328363
73Polydipsia (HP:0001959)1.96268931
74Abnormal drinking behavior (HP:0030082)1.96268931
75Gaze-evoked nystagmus (HP:0000640)1.93220197
76Ureteral obstruction (HP:0006000)1.91244808
77Morphological abnormality of the pyramidal tract (HP:0002062)1.91109762
78Genu varum (HP:0002970)1.89168636
79Hip contracture (HP:0003273)1.89056881
80Hydroureter (HP:0000072)1.85755694
81Aplasia/Hypoplasia of the ulna (HP:0006495)1.84742998
82Bradycardia (HP:0001662)1.82423456
83Neonatal short-limb short stature (HP:0008921)1.78333415
84Overgrowth (HP:0001548)1.75930888
85Abnormality of the labia majora (HP:0012881)1.75318372
86Broad-based gait (HP:0002136)1.74912336
87Neonatal hypoglycemia (HP:0001998)1.74867734
88Long eyelashes (HP:0000527)1.74543510
89Hoarse voice (HP:0001609)1.73178733
90Focal segmental glomerulosclerosis (HP:0000097)1.71227421
91Decreased circulating renin level (HP:0003351)1.69635766
92Abnormal number of incisors (HP:0011064)1.69348254
93Vertebral arch anomaly (HP:0008438)1.68751026
94Macular degeneration (HP:0000608)1.67430985
95Vaginal atresia (HP:0000148)1.65888634
96Rectal prolapse (HP:0002035)1.62493231
97Short palm (HP:0004279)1.61967312
98Limited hip movement (HP:0008800)1.61263299
99Fair hair (HP:0002286)1.60519007
100Tented upper lip vermilion (HP:0010804)1.60312632

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PIK3CG6.66568466
2MYLK5.59783343
3DMPK2.90925836
4CDK122.70578572
5RIPK12.25186333
6AKT310.9470845
7PAK21.87184788
8FRK1.82587483
9TRIB31.68467049
10EEF2K1.61789752
11CDC42BPA1.53686207
12CAMK1D1.53190828
13ACVR1B1.51759972
14LATS11.41976883
15TAOK31.35487829
16CAMK1G1.33883716
17TTN1.26192966
18TNK21.20918609
19PIK3CA1.19191593
20MARK21.10909157
21BMPR1B1.04163703
22MTOR1.03516680
23PAK31.03348307
24STK380.98182543
25MAP3K70.97021733
26NLK0.96744515
27TNIK0.96268837
28BRD40.91703395
29DDR20.80410849
30HIPK20.78273577
31ROCK10.66324131
32PRKAA20.65980154
33CHUK0.64815584
34MAPKAPK30.63941056
35RPS6KA20.60017663
36TRPM70.55738541
37CAMK10.54745141
38NME10.54667743
39FER0.52502332
40MAPK10.52160073
41SGK20.51494107
42TGFBR10.50213289
43SIK10.49823064
44MAPK80.48974255
45MAPK40.44609633
46MAPKAPK50.43625394
47MAP3K20.43079446
48MKNK20.41303953
49EPHA30.40549794
50CAMK40.40548025
51STK38L0.40076344
52MAP2K10.38226132
53MAPK70.37980921
54FGFR20.37446330
55MARK10.36959703
56GSK3B0.36145610
57PDGFRA0.34636650
58MAPK120.34568087
59MAP2K20.33318052
60INSRR0.32954363
61RPS6KA60.31626433
62SGK4940.30807837
63SGK2230.30807837
64MAPK90.30091785
65MAPK30.30042520
66MELK0.29918401
67PRKD20.29294615
68PRKACB0.29163582
69PRKAA10.28855305
70MKNK10.27514643
71MAP3K130.27129172
72PDGFRB0.27112571
73RET0.27052010
74EPHB10.25739442
75RPS6KL10.24909877
76RPS6KC10.24909877
77SGK30.24203519
78GSK3A0.23999392
79WNK10.23984720
80MAPKAPK20.23035049
81PRKG10.21613289
82MAPK140.21290734
83MAPK100.21184957
84RPS6KA30.20728916
85RPS6KA10.19439713
86CDK10.18326477
87CDK70.18318510
88MAPK130.17601073
89ERN10.17069901
90ILK0.16745437
91CDK20.16679964
92AKT10.16661057
93PAK10.16597727
94PRKDC0.16147750
95ICK0.14945299
96RPS6KA50.14150073
97SGK10.14133170
98CAMK2G0.13764579
99PTK2B0.12209452
100PRKCZ0.11914802

Predicted pathways (KEGG)

RankGene SetZ-score
1Arachidonic acid metabolism_Homo sapiens_hsa005905.38116800
2Vascular smooth muscle contraction_Homo sapiens_hsa042703.59456665
3Fatty acid biosynthesis_Homo sapiens_hsa000613.27174817
4Circadian rhythm_Homo sapiens_hsa047102.56103078
5Adherens junction_Homo sapiens_hsa045202.32494675
6Lysine degradation_Homo sapiens_hsa003102.30538629
7Gastric acid secretion_Homo sapiens_hsa049711.93015262
8Tight junction_Homo sapiens_hsa045301.70183027
9Thyroid cancer_Homo sapiens_hsa052161.59581558
10Focal adhesion_Homo sapiens_hsa045101.57559947
11cGMP-PKG signaling pathway_Homo sapiens_hsa040221.54323601
12Notch signaling pathway_Homo sapiens_hsa043301.52664315
13Oxytocin signaling pathway_Homo sapiens_hsa049211.44674269
14Inositol phosphate metabolism_Homo sapiens_hsa005621.39984116
15Aldosterone synthesis and secretion_Homo sapiens_hsa049251.39548049
16Thyroid hormone synthesis_Homo sapiens_hsa049181.38409441
17Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.37058100
18Phosphatidylinositol signaling system_Homo sapiens_hsa040701.34792357
19Salivary secretion_Homo sapiens_hsa049701.34738701
20Dilated cardiomyopathy_Homo sapiens_hsa054141.33244178
21Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.27531602
22Taste transduction_Homo sapiens_hsa047421.26448769
23Circadian entrainment_Homo sapiens_hsa047131.24422848
24Protein digestion and absorption_Homo sapiens_hsa049741.22716130
25Pancreatic secretion_Homo sapiens_hsa049721.22312408
26Insulin secretion_Homo sapiens_hsa049111.21506360
27Prostate cancer_Homo sapiens_hsa052151.20858421
28Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.18705095
29PPAR signaling pathway_Homo sapiens_hsa033201.14704629
30beta-Alanine metabolism_Homo sapiens_hsa004101.11112346
31Acute myeloid leukemia_Homo sapiens_hsa052211.10516036
32Calcium signaling pathway_Homo sapiens_hsa040201.09527285
33ECM-receptor interaction_Homo sapiens_hsa045121.08739502
34Proteoglycans in cancer_Homo sapiens_hsa052051.07894000
35Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.06218817
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.06159029
37AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.05251536
38Renin secretion_Homo sapiens_hsa049241.00733355
39Estrogen signaling pathway_Homo sapiens_hsa049151.00480388
40Platelet activation_Homo sapiens_hsa046110.99938819
41Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.98482728
42TGF-beta signaling pathway_Homo sapiens_hsa043500.97452572
43Thyroid hormone signaling pathway_Homo sapiens_hsa049190.97110540
44Adipocytokine signaling pathway_Homo sapiens_hsa049200.94845482
45Melanogenesis_Homo sapiens_hsa049160.94410665
46Choline metabolism in cancer_Homo sapiens_hsa052310.93461108
47Dorso-ventral axis formation_Homo sapiens_hsa043200.93100367
48Insulin resistance_Homo sapiens_hsa049310.92692797
49Transcriptional misregulation in cancer_Homo sapiens_hsa052020.92514821
50Cholinergic synapse_Homo sapiens_hsa047250.90829282
51alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.90808335
52Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.86926096
53Prolactin signaling pathway_Homo sapiens_hsa049170.85870619
54Ovarian steroidogenesis_Homo sapiens_hsa049130.84346169
55Small cell lung cancer_Homo sapiens_hsa052220.84035626
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.82827854
57Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.82662164
58Longevity regulating pathway - mammal_Homo sapiens_hsa042110.81128558
59AMPK signaling pathway_Homo sapiens_hsa041520.80360238
60Histidine metabolism_Homo sapiens_hsa003400.77835022
61Hippo signaling pathway_Homo sapiens_hsa043900.74953345
62Regulation of actin cytoskeleton_Homo sapiens_hsa048100.74388853
63Basal cell carcinoma_Homo sapiens_hsa052170.74359165
64Glucagon signaling pathway_Homo sapiens_hsa049220.73898748
65VEGF signaling pathway_Homo sapiens_hsa043700.73888872
66Amoebiasis_Homo sapiens_hsa051460.73363300
67FoxO signaling pathway_Homo sapiens_hsa040680.73049416
68Serotonergic synapse_Homo sapiens_hsa047260.72871839
69Long-term potentiation_Homo sapiens_hsa047200.72456582
70mTOR signaling pathway_Homo sapiens_hsa041500.72238256
71Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.71548995
72cAMP signaling pathway_Homo sapiens_hsa040240.71018439
73Phospholipase D signaling pathway_Homo sapiens_hsa040720.67366895
74Wnt signaling pathway_Homo sapiens_hsa043100.67113799
75MicroRNAs in cancer_Homo sapiens_hsa052060.65836231
76Long-term depression_Homo sapiens_hsa047300.62797157
77Pathways in cancer_Homo sapiens_hsa052000.62238570
78TNF signaling pathway_Homo sapiens_hsa046680.61528392
79GnRH signaling pathway_Homo sapiens_hsa049120.58964420
80Propanoate metabolism_Homo sapiens_hsa006400.57270293
81Type II diabetes mellitus_Homo sapiens_hsa049300.55621820
82Fructose and mannose metabolism_Homo sapiens_hsa000510.51836225
83Insulin signaling pathway_Homo sapiens_hsa049100.50922017
84MAPK signaling pathway_Homo sapiens_hsa040100.49861778
85Leukocyte transendothelial migration_Homo sapiens_hsa046700.49413173
86Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.48410340
87Fatty acid metabolism_Homo sapiens_hsa012120.46754604
88Vitamin B6 metabolism_Homo sapiens_hsa007500.46019008
89Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.45540789
90ABC transporters_Homo sapiens_hsa020100.44962336
91Glioma_Homo sapiens_hsa052140.44247131
92Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44163201
93mRNA surveillance pathway_Homo sapiens_hsa030150.43862126
94HIF-1 signaling pathway_Homo sapiens_hsa040660.43014402
95NF-kappa B signaling pathway_Homo sapiens_hsa040640.40357330
96Dopaminergic synapse_Homo sapiens_hsa047280.38740791
97Non-small cell lung cancer_Homo sapiens_hsa052230.38172723
98Fatty acid degradation_Homo sapiens_hsa000710.38076808
99Chemical carcinogenesis_Homo sapiens_hsa052040.37404458
100Glutamatergic synapse_Homo sapiens_hsa047240.35516463

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