CCDC140

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 protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1melanin biosynthetic process (GO:0042438)7.54761837
2postsynaptic membrane organization (GO:0001941)7.25620953
3melanin metabolic process (GO:0006582)6.85246490
4secondary metabolite biosynthetic process (GO:0044550)6.50554717
5somite development (GO:0061053)5.59621753
6DNA strand renaturation (GO:0000733)5.48334304
7behavioral response to nicotine (GO:0035095)4.99043632
8negative regulation of leukocyte chemotaxis (GO:0002689)4.61974346
9myotube differentiation (GO:0014902)4.46211867
10convergent extension (GO:0060026)4.31286629
11axon extension involved in axon guidance (GO:0048846)4.26865361
12neuron projection extension involved in neuron projection guidance (GO:1902284)4.26865361
13melanocyte differentiation (GO:0030318)4.21162485
14regulation of penile erection (GO:0060405)4.05875563
15behavioral response to ethanol (GO:0048149)4.05113981
16pigment cell differentiation (GO:0050931)4.04420726
17inositol metabolic process (GO:0006020)4.04249024
18regulation of histone phosphorylation (GO:0033127)3.96554585
19endosome to melanosome transport (GO:0035646)3.91766265
20endosome to pigment granule transport (GO:0043485)3.91766265
21lens fiber cell development (GO:0070307)3.86733396
22synaptonemal complex assembly (GO:0007130)3.86096451
23synaptic transmission, cholinergic (GO:0007271)3.85173320
24nitric oxide biosynthetic process (GO:0006809)3.83629092
25regulation of somitogenesis (GO:0014807)3.78524124
26regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.63746558
27regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.63746558
28dorsal/ventral neural tube patterning (GO:0021904)3.58759178
29positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)3.54949924
30synaptonemal complex organization (GO:0070193)3.46685965
31axonal fasciculation (GO:0007413)3.39755896
32presynaptic membrane assembly (GO:0097105)3.38136750
33melanosome organization (GO:0032438)3.34387480
34growth hormone secretion (GO:0030252)3.33970570
35protein heterotrimerization (GO:0070208)3.31920873
36regulation of axon guidance (GO:1902667)3.28188254
37short-term memory (GO:0007614)3.22285593
38regulation of G0 to G1 transition (GO:0070316)3.22111398
39synaptic transmission, dopaminergic (GO:0001963)3.20769744
40phenol-containing compound biosynthetic process (GO:0046189)3.17340841
41collagen fibril organization (GO:0030199)3.15863122
42pigment granule organization (GO:0048753)3.15577943
43male sex determination (GO:0030238)3.11101398
44negative regulation of adenylate cyclase activity (GO:0007194)3.09888763
45establishment of protein localization to mitochondrial membrane (GO:0090151)3.06727136
46cochlea morphogenesis (GO:0090103)3.03950985
47negative regulation of translation, ncRNA-mediated (GO:0040033)3.03827746
48regulation of translation, ncRNA-mediated (GO:0045974)3.03827746
49negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.03827746
50neuron recognition (GO:0008038)3.02348664
51proline transport (GO:0015824)3.02084659
52spinal cord association neuron differentiation (GO:0021527)3.01304198
53skeletal muscle fiber development (GO:0048741)2.99784931
54mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.96692035
55developmental pigmentation (GO:0048066)2.93017290
56female mating behavior (GO:0060180)2.92351675
57negative regulation of chemotaxis (GO:0050922)2.90667666
58somite rostral/caudal axis specification (GO:0032525)2.89664567
59behavioral response to cocaine (GO:0048148)2.88816548
60negative regulation of cyclase activity (GO:0031280)2.88717212
61presynaptic membrane organization (GO:0097090)2.86877568
62negative regulation of lyase activity (GO:0051350)2.85707136
63negative regulation of axon guidance (GO:1902668)2.85217201
64regulation of axon extension involved in axon guidance (GO:0048841)2.83435837
65regulation of neurotransmitter uptake (GO:0051580)2.83102311
66substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.81960630
67substrate-independent telencephalic tangential migration (GO:0021826)2.81960630
68proximal/distal pattern formation (GO:0009954)2.76744054
69negative regulation of cartilage development (GO:0061037)2.76481967
70neuronal stem cell maintenance (GO:0097150)2.72269670
71inner ear receptor cell differentiation (GO:0060113)2.70577010
72oogenesis (GO:0048477)2.68818227
73axon extension (GO:0048675)2.66611303
74transmission of nerve impulse (GO:0019226)2.64737142
75ketone body metabolic process (GO:1902224)2.63187180
76cell aggregation (GO:0098743)2.63097452
77cartilage condensation (GO:0001502)2.63097452
78folic acid metabolic process (GO:0046655)2.61432841
79alanine transport (GO:0032328)2.60616029
80regulation of synaptic transmission, dopaminergic (GO:0032225)2.57495942
81determination of adult lifespan (GO:0008340)2.57260548
82negative regulation of oligodendrocyte differentiation (GO:0048715)2.57120050
83cell proliferation in forebrain (GO:0021846)2.57079976
84negative regulation of interleukin-1 beta production (GO:0032691)2.55021293
85somatic stem cell division (GO:0048103)2.52408490
86neuroepithelial cell differentiation (GO:0060563)2.51675045
87cardiovascular system development (GO:0072358)2.51547500
88myotube cell development (GO:0014904)2.51061458
89chromatin remodeling at centromere (GO:0031055)2.50026361
90nonmotile primary cilium assembly (GO:0035058)2.49955844
91craniofacial suture morphogenesis (GO:0097094)2.49890956
92regulation of skeletal muscle contraction (GO:0014819)2.49720601
93folic acid transport (GO:0015884)2.48575274
94negative regulation of calcium ion transmembrane transport (GO:1903170)2.48205326
95negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.48205326
96negative regulation of cAMP biosynthetic process (GO:0030818)2.46976000
97microtubule severing (GO:0051013)2.46643651
98prepulse inhibition (GO:0060134)2.46557004
99negative regulation of cAMP metabolic process (GO:0030815)2.45550224
100aldehyde catabolic process (GO:0046185)2.43850545

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human9.57274924
2E2F7_22180533_ChIP-Seq_HELA_Human4.89759800
3CBX2_27304074_Chip-Seq_ESCs_Mouse3.76576267
4EZH2_27304074_Chip-Seq_ESCs_Mouse3.71423464
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.14021991
6JARID2_20075857_ChIP-Seq_MESCs_Mouse2.83568021
7EED_16625203_ChIP-ChIP_MESCs_Mouse2.74601223
8ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.71292305
9FOXM1_23109430_ChIP-Seq_U2OS_Human2.60524097
10ESR1_15608294_ChIP-ChIP_MCF-7_Human2.48162171
11RBPJ_22232070_ChIP-Seq_NCS_Mouse2.45744599
12SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.45459218
13PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.43049238
14EZH2_18974828_ChIP-Seq_MESCs_Mouse2.42400216
15RNF2_18974828_ChIP-Seq_MESCs_Mouse2.42400216
16RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.31442043
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.31186291
18SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.13132022
19DROSHA_22980978_ChIP-Seq_HELA_Human2.12629386
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.10839522
21HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.09485273
22SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.01887018
23TP53_20018659_ChIP-ChIP_R1E_Mouse2.01774348
24CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.98565784
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.97386670
26MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.94687169
27BMI1_23680149_ChIP-Seq_NPCS_Mouse1.91429289
28EZH2_27294783_Chip-Seq_ESCs_Mouse1.83157011
29SUZ12_27294783_Chip-Seq_ESCs_Mouse1.80958638
30RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.79657382
31SRY_22984422_ChIP-ChIP_TESTIS_Rat1.70229183
32CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.67555042
33* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.59259526
34ZFP57_27257070_Chip-Seq_ESCs_Mouse1.58580898
35NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.52845222
36POU5F1_16153702_ChIP-ChIP_HESCs_Human1.47348610
37ZNF274_21170338_ChIP-Seq_K562_Hela1.46646444
38SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.44935510
39MTF2_20144788_ChIP-Seq_MESCs_Mouse1.44841877
40CTBP1_25329375_ChIP-Seq_LNCAP_Human1.44309160
41RNF2_27304074_Chip-Seq_NSC_Mouse1.39229623
42REST_21632747_ChIP-Seq_MESCs_Mouse1.39149183
43TAF15_26573619_Chip-Seq_HEK293_Human1.33044189
44* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.32999198
45RING1B_27294783_Chip-Seq_ESCs_Mouse1.30977367
46GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30534412
47EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.28953507
48STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.24787822
49WT1_19549856_ChIP-ChIP_CCG9911_Human1.22256038
50VDR_22108803_ChIP-Seq_LS180_Human1.20415860
51TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.20095049
52RING1B_27294783_Chip-Seq_NPCs_Mouse1.19067560
53OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.17785662
54REST_18959480_ChIP-ChIP_MESCs_Mouse1.08680292
55LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08152006
56CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.07723397
57CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.03442408
58SMAD3_21741376_ChIP-Seq_EPCs_Human1.03342287
59KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02919585
60POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01816681
61TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01816681
62TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00741596
63GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.99985307
64WDR5_24793694_ChIP-Seq_LNCAP_Human0.99654949
65DNAJC2_21179169_ChIP-ChIP_NT2_Human0.97346702
66MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse0.96700308
67EWS_26573619_Chip-Seq_HEK293_Human0.95027418
68RUNX1_26923725_Chip-Seq_HPCs_Mouse0.93071546
69GBX2_23144817_ChIP-Seq_PC3_Human0.88347593
70P53_22127205_ChIP-Seq_FIBROBLAST_Human0.88278087
71SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.87870123
72P300_19829295_ChIP-Seq_ESCs_Human0.85343155
73AR_19668381_ChIP-Seq_PC3_Human0.84895432
74MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.84625464
75ZFP281_27345836_Chip-Seq_ESCs_Mouse0.83460136
76STAT6_21828071_ChIP-Seq_BEAS2B_Human0.83023411
77TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.82790055
78REST_19997604_ChIP-ChIP_NEURONS_Mouse0.82119900
79LXR_22292898_ChIP-Seq_THP-1_Human0.81587417
80FUS_26573619_Chip-Seq_HEK293_Human0.81415381
81SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.80920732
82TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.80116736
83* SMAD3_21741376_ChIP-Seq_ESCs_Human0.79055739
84MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.79045098
85ISL1_27105846_Chip-Seq_CPCs_Mouse0.76928155
86KDM2B_26808549_Chip-Seq_REH_Human0.76292981
87EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.75380071
88* STAT3_23295773_ChIP-Seq_U87_Human0.74793648
89NFIB_24661679_ChIP-Seq_LUNG_Mouse0.74506059
90JUN_21703547_ChIP-Seq_K562_Human0.74501142
91CTCF_27219007_Chip-Seq_Bcells_Human0.74372664
92RARG_19884340_ChIP-ChIP_MEFs_Mouse0.72999237
93SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.71227002
94WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.71065694
95NRF2_20460467_ChIP-Seq_MEFs_Mouse0.70876493
96NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.70876493
97IKZF1_21737484_ChIP-ChIP_HCT116_Human0.69862105
98MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.68926071
99YAP1_20516196_ChIP-Seq_MESCs_Mouse0.68805755
100TOP2B_26459242_ChIP-Seq_MCF-7_Human0.68782318

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation6.57065993
2MP0000372_irregular_coat_pigmentation6.10144689
3MP0003136_yellow_coat_color4.69028416
4MP0000569_abnormal_digit_pigmentation4.28231073
5MP0003806_abnormal_nucleotide_metabolis4.05213289
6MP0002938_white_spotting3.51485755
7MP0005257_abnormal_intraocular_pressure3.48732479
8MP0000015_abnormal_ear_pigmentation3.38173155
9MP0002095_abnormal_skin_pigmentation3.03462198
10MP0005174_abnormal_tail_pigmentation2.58237474
11MP0005408_hypopigmentation2.36812566
12MP0008438_abnormal_cutaneous_collagen2.31905276
13MP0003315_abnormal_perineum_morphology2.12878792
14MP0004858_abnormal_nervous_system1.94025933
15MP0004147_increased_porphyrin_level1.70710234
16MP0003283_abnormal_digestive_organ1.70063485
17MP0005423_abnormal_somatic_nervous1.64958682
18MP0005075_abnormal_melanosome_morpholog1.64542829
19MP0001324_abnormal_eye_pigmentation1.61258011
20MP0002877_abnormal_melanocyte_morpholog1.59880029
21MP0003303_peritoneal_inflammation1.56078159
22MP0003646_muscle_fatigue1.55425942
23MP0003878_abnormal_ear_physiology1.50734767
24MP0005377_hearing/vestibular/ear_phenot1.50734767
25MP0002822_catalepsy1.47382073
26MP0000778_abnormal_nervous_system1.46120654
27MP0010030_abnormal_orbit_morphology1.44881488
28MP0005503_abnormal_tendon_morphology1.42854063
29MP0002653_abnormal_ependyma_morphology1.40100656
30MP0003880_abnormal_central_pattern1.32865651
31MP0002735_abnormal_chemical_nociception1.31246696
32MP0000371_diluted_coat_color1.28785040
33MP0009053_abnormal_anal_canal1.28682558
34MP0004142_abnormal_muscle_tone1.21978424
35MP0009384_cardiac_valve_regurgitation1.20817939
36MP0002075_abnormal_coat/hair_pigmentati1.20816513
37MP0002733_abnormal_thermal_nociception1.20511349
38MP0001293_anophthalmia1.19979982
39MP0009250_abnormal_appendicular_skeleto1.13082794
40MP0005197_abnormal_uvea_morphology1.12213214
41MP0005266_abnormal_metabolism1.11173681
42MP0000534_abnormal_ureter_morphology1.09193505
43MP0003385_abnormal_body_wall1.07423631
44MP0004885_abnormal_endolymph1.03075491
45MP0000751_myopathy1.02035095
46MP0003705_abnormal_hypodermis_morpholog1.00219226
47MP0003959_abnormal_lean_body0.98255501
48MP0001186_pigmentation_phenotype0.97528670
49MP0002572_abnormal_emotion/affect_behav0.93081690
50MP0001346_abnormal_lacrimal_gland0.91495370
51MP0000049_abnormal_middle_ear0.91203227
52MP0008057_abnormal_DNA_replication0.89944956
53MP0001968_abnormal_touch/_nociception0.89095181
54MP0003937_abnormal_limbs/digits/tail_de0.86467361
55MP0004381_abnormal_hair_follicle0.84769490
56MP0000427_abnormal_hair_cycle0.82463996
57MP0006292_abnormal_olfactory_placode0.82107361
58MP0000750_abnormal_muscle_regeneration0.81819481
59MP0000537_abnormal_urethra_morphology0.80843654
60MP0005508_abnormal_skeleton_morphology0.80435220
61MP0006276_abnormal_autonomic_nervous0.79972697
62MP0001286_abnormal_eye_development0.79940437
63MP0002233_abnormal_nose_morphology0.79874565
64MP0002249_abnormal_larynx_morphology0.79701987
65MP0000749_muscle_degeneration0.79237944
66MP0000026_abnormal_inner_ear0.79115844
67MP0002697_abnormal_eye_size0.79013424
68MP0002106_abnormal_muscle_physiology0.76600211
69MP0008961_abnormal_basal_metabolism0.76007502
70MP0002116_abnormal_craniofacial_bone0.74996126
71MP0004130_abnormal_muscle_cell0.72142713
72MP0001542_abnormal_bone_strength0.71949367
73MP0004272_abnormal_basement_membrane0.70796558
74MP0002177_abnormal_outer_ear0.70675734
75MP0000647_abnormal_sebaceous_gland0.69991167
76MP0001970_abnormal_pain_threshold0.69403563
77MP0008569_lethality_at_weaning0.69335021
78MP0001958_emphysema0.68810896
79MP0000516_abnormal_urinary_system0.68499826
80MP0005367_renal/urinary_system_phenotyp0.68499826
81MP0003938_abnormal_ear_development0.68420054
82MP0000733_abnormal_muscle_development0.68282217
83MP0000579_abnormal_nail_morphology0.67589980
84MP0002109_abnormal_limb_morphology0.67241185
85MP0002102_abnormal_ear_morphology0.66703867
86MP0005248_abnormal_Harderian_gland0.65396438
87MP0009745_abnormal_behavioral_response0.64500087
88MP0001440_abnormal_grooming_behavior0.64419335
89MP0001501_abnormal_sleep_pattern0.63817589
90MP0002063_abnormal_learning/memory/cond0.62574024
91MP0005369_muscle_phenotype0.62449864
92MP0000955_abnormal_spinal_cord0.60905853
93MP0001299_abnormal_eye_distance/0.59681058
94MP0002734_abnormal_mechanical_nocicepti0.58668817
95MP0003755_abnormal_palate_morphology0.58397753
96MP0000747_muscle_weakness0.58328139
97MP0004145_abnormal_muscle_electrophysio0.56887600
98MP0003861_abnormal_nervous_system0.56259891
99MP0002114_abnormal_axial_skeleton0.54284700
100MP0002092_abnormal_eye_morphology0.53972534

Predicted human phenotypes

RankGene SetZ-score
1Hypoplastic ischia (HP:0003175)4.90856231
2White forelock (HP:0002211)4.77793194
3Abnormality of the ischium (HP:0003174)4.66576308
4Patchy hypopigmentation of hair (HP:0011365)4.26320441
5Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.94467257
6Birth length less than 3rd percentile (HP:0003561)3.76152794
7Molar tooth sign on MRI (HP:0002419)3.59876937
8Abnormality of midbrain morphology (HP:0002418)3.59876937
9Hypoplasia of the iris (HP:0007676)3.30896076
10Protrusio acetabuli (HP:0003179)3.21043714
11Blue irides (HP:0000635)3.18428193
12Ocular albinism (HP:0001107)3.10119821
13Congenital sensorineural hearing impairment (HP:0008527)2.97818623
14Abnormality of the pubic bones (HP:0003172)2.92361242
15Iris hypopigmentation (HP:0007730)2.79762671
16Type 1 muscle fiber predominance (HP:0003803)2.76669455
17Premature rupture of membranes (HP:0001788)2.76116813
18Neonatal short-limb short stature (HP:0008921)2.74687159
19Broad metatarsal (HP:0001783)2.74060403
20Trigonocephaly (HP:0000243)2.70083887
21Slender long bone (HP:0003100)2.68541413
22Heterochromia iridis (HP:0001100)2.60968731
23Breast hypoplasia (HP:0003187)2.55184894
24Soft skin (HP:0000977)2.53403434
25Nuclear cataract (HP:0100018)2.50594524
26Abnormality of the 4th metacarpal (HP:0010012)2.49233813
27Morphological abnormality of the middle ear (HP:0008609)2.46251985
28Bell-shaped thorax (HP:0001591)2.41957714
29Infantile muscular hypotonia (HP:0008947)2.38002348
30Absent epiphyses (HP:0010577)2.34818384
31Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.34818384
32Calcaneovalgus deformity (HP:0001848)2.29315305
33Cutaneous finger syndactyly (HP:0010554)2.28095840
34Synophrys (HP:0000664)2.27525238
35Abnormal sex determination (HP:0012244)2.19266383
36Sex reversal (HP:0012245)2.19266383
37Choroideremia (HP:0001139)2.18868346
38Abnormal gallbladder physiology (HP:0012438)2.17455567
39Cholecystitis (HP:0001082)2.17455567
40Spastic paraparesis (HP:0002313)2.16845678
41Wide anterior fontanel (HP:0000260)2.16312872
42Coronal craniosynostosis (HP:0004440)2.15283822
43Patellar aplasia (HP:0006443)2.13854112
44Hypopigmentation of the fundus (HP:0007894)2.09652493
45Turricephaly (HP:0000262)2.09450381
46Nephronophthisis (HP:0000090)2.08775501
47High anterior hairline (HP:0009890)2.08327322
48Hypoventilation (HP:0002791)2.08148465
49Genu recurvatum (HP:0002816)2.07603194
50Mild short stature (HP:0003502)2.07333757
51Hypoplastic pelvis (HP:0008839)2.05102784
52Bladder diverticulum (HP:0000015)2.04054979
53Aplasia/Hypoplasia of the fovea (HP:0008060)2.03997892
54Hypoplasia of the fovea (HP:0007750)2.03997892
55Generalized hypopigmentation (HP:0007513)1.98595703
56Aplasia/Hypoplasia of the macula (HP:0008059)1.97644578
57Shallow orbits (HP:0000586)1.96355725
58Cutaneous syndactyly (HP:0012725)1.96133068
59Hypoplasia of the uterus (HP:0000013)1.96132954
60Irregular epiphyses (HP:0010582)1.95370714
61Abnormality of the phalanges of the hallux (HP:0010057)1.94116055
62Intellectual disability, moderate (HP:0002342)1.93720716
63Abnormality of dentin (HP:0010299)1.93661303
64Large for gestational age (HP:0001520)1.92936283
65Thin ribs (HP:0000883)1.92781983
66Deformed tarsal bones (HP:0008119)1.90176075
67Chronic hepatic failure (HP:0100626)1.86839164
68Redundant skin (HP:0001582)1.82730227
69Premature graying of hair (HP:0002216)1.82528793
70Aplasia/Hypoplasia of the patella (HP:0006498)1.81427663
71Abnormality of the diencephalon (HP:0010662)1.81354960
72Aplasia/Hypoplasia affecting the retina (HP:0008061)1.80755509
73Rib fusion (HP:0000902)1.79911392
74Abnormal number of incisors (HP:0011064)1.79370697
75Muscle fiber atrophy (HP:0100295)1.78911467
76Slender build (HP:0001533)1.77648103
77Tracheomalacia (HP:0002779)1.77592712
78Albinism (HP:0001022)1.77580170
79Poor head control (HP:0002421)1.75377484
80Partial agenesis of the corpus callosum (HP:0001338)1.75028104
81Abnormality of the lower motor neuron (HP:0002366)1.74996049
82Astigmatism (HP:0000483)1.73658905
83Sclerocornea (HP:0000647)1.73487596
84High pitched voice (HP:0001620)1.73155761
85True hermaphroditism (HP:0010459)1.72811790
86Aganglionic megacolon (HP:0002251)1.71479712
87Aplasia/hypoplasia of the uterus (HP:0008684)1.71462741
88Aplasia/Hypoplasia of the uvula (HP:0010293)1.70631931
89Anencephaly (HP:0002323)1.70315178
90Meckel diverticulum (HP:0002245)1.69169177
91Highly arched eyebrow (HP:0002553)1.68699100
92Gait imbalance (HP:0002141)1.67212464
93Narrow nasal bridge (HP:0000446)1.66831987
94Small hand (HP:0200055)1.66429214
95Synostosis of carpal bones (HP:0005048)1.66093945
96Morphological abnormality of the inner ear (HP:0011390)1.64554608
97Atrophic scars (HP:0001075)1.63300423
98Medial flaring of the eyebrow (HP:0010747)1.62934501
99Poor coordination (HP:0002370)1.61610939
100Ankle contracture (HP:0006466)1.59620417

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR6.09774893
2PNCK4.76495918
3DDR24.31060633
4WEE13.96227879
5VRK22.87423880
6EPHB22.68388049
7TNIK2.61613760
8CASK2.46307729
9NEK22.43030562
10MAPK152.29431183
11CDC72.20918416
12MARK12.13330429
13CDK121.89109435
14TRIB31.84447535
15ERN11.73207558
16CAMK1D1.70646251
17MOS1.69943104
18TYRO31.69859801
19EEF2K1.57910348
20NEK91.54640633
21PRKD31.53953865
22CAMK1G1.51768132
23STK31.46138817
24EPHA41.40879393
25MAPKAPK51.40029179
26VRK11.32740235
27PTK2B1.31200516
28NTRK21.19518083
29TAF11.18721598
30PINK11.13323604
31BMPR1B1.05833589
32PAK61.04564477
33PRKCG1.00030227
34MKNK10.99837237
35CAMKK10.98547949
36RPS6KA60.98087464
37PKN20.96510323
38OBSCN0.94027476
39PRKCH0.87377654
40PAK20.86139397
41CAMKK20.85722283
42DYRK30.81147865
43NTRK10.80103487
44PLK20.79737525
45MAPKAPK30.78508040
46MAPK40.76758297
47PDGFRA0.75616592
48SMG10.75478548
49LATS10.73048178
50MAPK130.72830642
51TTN0.69049056
52DYRK20.67695026
53RPS6KA50.65845998
54CDK70.64326655
55PASK0.64129887
56CHEK20.63335695
57ATR0.63200696
58BUB10.61916844
59MAP3K110.60709634
60CDK11A0.59360267
61ICK0.58691285
62LATS20.58457154
63LIMK10.58022041
64PLK40.57437667
65TSSK60.56117447
66CDK150.53531662
67CDK80.52333876
68PLK10.51801988
69CAMK40.50747704
70CDK180.49969451
71BRD40.49200865
72MKNK20.48099344
73MTOR0.46996895
74MAPK70.46643210
75CDK40.46377918
76PHKG20.46018889
77PHKG10.46018889
78SIK20.44086729
79CDK30.41517850
80RIPK10.40233491
81CDK140.40212458
82NEK10.38158947
83CDK60.37516309
84RPS6KA20.36357129
85AURKA0.36248923
86DYRK1A0.35344374
87GSK3A0.34914984
88PRKG20.30336118
89RPS6KL10.29535576
90RPS6KC10.29535576
91KIT0.28349297
92CHEK10.25956616
93MAP3K40.25369623
94CAMK2A0.24722852
95WNK30.23825301
96CDK190.23721618
97RPS6KB20.22839963
98PLK30.22293559
99CCNB10.21650482
100CDK10.21183954

Predicted pathways (KEGG)

RankGene SetZ-score
1Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001305.50985911
2Hedgehog signaling pathway_Homo sapiens_hsa043403.94058506
3Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.08342244
4Homologous recombination_Homo sapiens_hsa034402.81777696
5Basal cell carcinoma_Homo sapiens_hsa052172.62712667
6Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.59922677
7Pentose phosphate pathway_Homo sapiens_hsa000302.42036458
8Fanconi anemia pathway_Homo sapiens_hsa034602.10009150
9Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.92212930
10Protein digestion and absorption_Homo sapiens_hsa049741.81470691
11Primary bile acid biosynthesis_Homo sapiens_hsa001201.79689289
12Melanoma_Homo sapiens_hsa052181.70310698
13Hippo signaling pathway_Homo sapiens_hsa043901.70095414
14Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.58567469
15Nicotine addiction_Homo sapiens_hsa050331.54722818
16Melanogenesis_Homo sapiens_hsa049161.52957762
17Bladder cancer_Homo sapiens_hsa052191.51414288
18Cocaine addiction_Homo sapiens_hsa050301.48232943
19ECM-receptor interaction_Homo sapiens_hsa045121.45090407
20Calcium signaling pathway_Homo sapiens_hsa040201.30100383
21Taste transduction_Homo sapiens_hsa047421.29727250
22Axon guidance_Homo sapiens_hsa043601.27346026
23Arginine biosynthesis_Homo sapiens_hsa002201.27230160
24Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.22365156
25Dilated cardiomyopathy_Homo sapiens_hsa054141.16935931
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.13346924
27DNA replication_Homo sapiens_hsa030301.12674882
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.12642894
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.11957450
30Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.11221577
31Glycosaminoglycan degradation_Homo sapiens_hsa005311.11040322
322-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.05721300
33Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.04113739
34Estrogen signaling pathway_Homo sapiens_hsa049151.01504851
35Circadian entrainment_Homo sapiens_hsa047131.00473855
36Cardiac muscle contraction_Homo sapiens_hsa042600.98691594
37Chemical carcinogenesis_Homo sapiens_hsa052040.96957680
38Prostate cancer_Homo sapiens_hsa052150.94502961
39Lysine degradation_Homo sapiens_hsa003100.93834195
40Glutamatergic synapse_Homo sapiens_hsa047240.93608224
41Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.91685679
42Butanoate metabolism_Homo sapiens_hsa006500.86874466
43Morphine addiction_Homo sapiens_hsa050320.85985904
44Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.85563664
45Oxytocin signaling pathway_Homo sapiens_hsa049210.82845696
46Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.81514120
47Transcriptional misregulation in cancer_Homo sapiens_hsa052020.80675206
48Inositol phosphate metabolism_Homo sapiens_hsa005620.79741587
49Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.79104620
50Alcoholism_Homo sapiens_hsa050340.79058663
51cAMP signaling pathway_Homo sapiens_hsa040240.78146992
52alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.77866338
53Dopaminergic synapse_Homo sapiens_hsa047280.77549323
54Small cell lung cancer_Homo sapiens_hsa052220.77439372
55Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.77140591
56Malaria_Homo sapiens_hsa051440.75807956
57Pathways in cancer_Homo sapiens_hsa052000.75352998
58Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.72856508
59Cell cycle_Homo sapiens_hsa041100.71933805
60RNA polymerase_Homo sapiens_hsa030200.71880233
61Focal adhesion_Homo sapiens_hsa045100.67463495
62Wnt signaling pathway_Homo sapiens_hsa043100.65954168
63Cholinergic synapse_Homo sapiens_hsa047250.65943592
64Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.65866049
65Systemic lupus erythematosus_Homo sapiens_hsa053220.64211362
66Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.62541615
67TGF-beta signaling pathway_Homo sapiens_hsa043500.62521254
68PI3K-Akt signaling pathway_Homo sapiens_hsa041510.60673375
69Purine metabolism_Homo sapiens_hsa002300.60167875
70Vibrio cholerae infection_Homo sapiens_hsa051100.59657485
71Mismatch repair_Homo sapiens_hsa034300.59427524
72Ras signaling pathway_Homo sapiens_hsa040140.54701789
73Oxidative phosphorylation_Homo sapiens_hsa001900.54253488
74Sulfur relay system_Homo sapiens_hsa041220.54087495
75Linoleic acid metabolism_Homo sapiens_hsa005910.53207911
76Gap junction_Homo sapiens_hsa045400.51297301
77Protein export_Homo sapiens_hsa030600.51270229
78GABAergic synapse_Homo sapiens_hsa047270.50597810
79AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.48374130
80Parkinsons disease_Homo sapiens_hsa050120.48367365
81Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.46455079
82MAPK signaling pathway_Homo sapiens_hsa040100.46021586
83Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43785923
84Serotonergic synapse_Homo sapiens_hsa047260.43759602
85cGMP-PKG signaling pathway_Homo sapiens_hsa040220.43104523
86Dorso-ventral axis formation_Homo sapiens_hsa043200.41999620
87MicroRNAs in cancer_Homo sapiens_hsa052060.41804903
88Colorectal cancer_Homo sapiens_hsa052100.40549012
89Nitrogen metabolism_Homo sapiens_hsa009100.40379901
90Ether lipid metabolism_Homo sapiens_hsa005650.40327026
91Type II diabetes mellitus_Homo sapiens_hsa049300.40244329
92Alzheimers disease_Homo sapiens_hsa050100.39458992
93Amphetamine addiction_Homo sapiens_hsa050310.39238307
94Amoebiasis_Homo sapiens_hsa051460.38658063
95Pyrimidine metabolism_Homo sapiens_hsa002400.37591039
96Glutathione metabolism_Homo sapiens_hsa004800.37560862
97Lysosome_Homo sapiens_hsa041420.35347842
98Vitamin digestion and absorption_Homo sapiens_hsa049770.34086420
99Aldosterone synthesis and secretion_Homo sapiens_hsa049250.33847027
100Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.33723159

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