SPECC1L-ADORA2A

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 locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)6.15201922
2tryptophan metabolic process (GO:0006568)5.07380524
3indolalkylamine metabolic process (GO:0006586)4.80012212
4fucose catabolic process (GO:0019317)4.58285925
5L-fucose metabolic process (GO:0042354)4.58285925
6L-fucose catabolic process (GO:0042355)4.58285925
7response to pheromone (GO:0019236)4.05499266
8rRNA catabolic process (GO:0016075)4.02628116
9protein K11-linked deubiquitination (GO:0035871)3.81658747
10cellular ketone body metabolic process (GO:0046950)3.79628124
11activated T cell proliferation (GO:0050798)3.76410317
12pyrimidine nucleobase catabolic process (GO:0006208)3.74382547
13indole-containing compound catabolic process (GO:0042436)3.73654022
14indolalkylamine catabolic process (GO:0046218)3.73654022
15tryptophan catabolic process (GO:0006569)3.73654022
16indole-containing compound metabolic process (GO:0042430)3.52268222
17platelet dense granule organization (GO:0060155)3.47870254
18kynurenine metabolic process (GO:0070189)3.46685977
19negative regulation of telomere maintenance (GO:0032205)3.44186116
20neural tube formation (GO:0001841)3.42921031
21DNA deamination (GO:0045006)3.38293656
22ketone body metabolic process (GO:1902224)3.32496643
23water-soluble vitamin biosynthetic process (GO:0042364)3.30837200
24sulfation (GO:0051923)3.30207393
25lysine metabolic process (GO:0006553)3.16992764
26lysine catabolic process (GO:0006554)3.16992764
27NADH dehydrogenase complex assembly (GO:0010257)3.13994647
28mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.13994647
29mitochondrial respiratory chain complex I assembly (GO:0032981)3.13994647
30establishment of protein localization to Golgi (GO:0072600)3.12735571
31protein localization to cilium (GO:0061512)3.12320637
32nephron tubule morphogenesis (GO:0072078)3.10722041
33nephron epithelium morphogenesis (GO:0072088)3.10722041
34neuronal action potential (GO:0019228)3.09913180
35sequestering of actin monomers (GO:0042989)3.08817130
36nucleobase catabolic process (GO:0046113)3.04463756
37epithelial cilium movement (GO:0003351)3.03940860
38kidney morphogenesis (GO:0060993)3.03597675
39protein complex biogenesis (GO:0070271)3.00468238
40epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.97323738
41positive regulation of fatty acid transport (GO:2000193)2.91978955
42mitochondrial respiratory chain complex assembly (GO:0033108)2.91818613
43protein targeting to Golgi (GO:0000042)2.91549445
44synaptic transmission, cholinergic (GO:0007271)2.90796390
45detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.83303505
46negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.82105880
47negative regulation of translation, ncRNA-mediated (GO:0040033)2.82105880
48regulation of translation, ncRNA-mediated (GO:0045974)2.82105880
49piRNA metabolic process (GO:0034587)2.81002452
50regulation of action potential (GO:0098900)2.75791756
51negative regulation of synaptic transmission, GABAergic (GO:0032229)2.75509683
52reflex (GO:0060004)2.72399222
53amine catabolic process (GO:0009310)2.69480443
54cellular biogenic amine catabolic process (GO:0042402)2.69480443
55preassembly of GPI anchor in ER membrane (GO:0016254)2.66707182
56protein K48-linked deubiquitination (GO:0071108)2.66144227
57primary amino compound metabolic process (GO:1901160)2.65877044
58respiratory chain complex IV assembly (GO:0008535)2.65127438
59negative regulation of reactive oxygen species metabolic process (GO:2000378)2.64288471
60positive regulation of defense response to virus by host (GO:0002230)2.63613600
61regulation of telomere maintenance (GO:0032204)2.61156527
62regulation of posttranscriptional gene silencing (GO:0060147)2.59531122
63regulation of gene silencing by miRNA (GO:0060964)2.59531122
64regulation of gene silencing by RNA (GO:0060966)2.59531122
65phosphatidylinositol acyl-chain remodeling (GO:0036149)2.59302310
66positive regulation of prostaglandin secretion (GO:0032308)2.57539866
67multicellular organism reproduction (GO:0032504)2.56144094
68macroautophagy (GO:0016236)2.54393607
69protein localization to Golgi apparatus (GO:0034067)2.54095161
70urinary tract smooth muscle contraction (GO:0014848)2.53851423
71retinal ganglion cell axon guidance (GO:0031290)2.50556686
72regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.49849997
73histone mRNA catabolic process (GO:0071044)2.49773452
74cilium organization (GO:0044782)2.49385005
75retrograde transport, vesicle recycling within Golgi (GO:0000301)2.49276626
76negative regulation of interleukin-1 production (GO:0032692)2.48220197
77cilium or flagellum-dependent cell motility (GO:0001539)2.48171236
78fucosylation (GO:0036065)2.47551391
79cilium morphogenesis (GO:0060271)2.46781601
80DNA demethylation (GO:0080111)2.46462627
81protein import into peroxisome matrix (GO:0016558)2.46400597
82negative regulation of interleukin-1 beta production (GO:0032691)2.46280234
83protein-cofactor linkage (GO:0018065)2.45976188
84cilium assembly (GO:0042384)2.45194195
85negative regulation of mast cell activation (GO:0033004)2.44245142
86cilium movement (GO:0003341)2.43276711
87aspartate family amino acid catabolic process (GO:0009068)2.43093798
88protein K63-linked deubiquitination (GO:0070536)2.42857588
89organelle disassembly (GO:1903008)2.40830371
90detection of light stimulus involved in visual perception (GO:0050908)2.40718318
91detection of light stimulus involved in sensory perception (GO:0050962)2.40718318
92nonmotile primary cilium assembly (GO:0035058)2.40553210
93ncRNA catabolic process (GO:0034661)2.39766296
94cornea development in camera-type eye (GO:0061303)2.39657977
95positive regulation of icosanoid secretion (GO:0032305)2.36707379
96neuron fate determination (GO:0048664)2.35150812
97reciprocal meiotic recombination (GO:0007131)2.34745717
98reciprocal DNA recombination (GO:0035825)2.34745717
99head development (GO:0060322)2.34307260
100auditory behavior (GO:0031223)2.33241005

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela4.60235789
2IGF1R_20145208_ChIP-Seq_DFB_Human3.46039614
3VDR_22108803_ChIP-Seq_LS180_Human3.40901893
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.10313086
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.85777564
6EZH2_22144423_ChIP-Seq_EOC_Human2.78038525
7GBX2_23144817_ChIP-Seq_PC3_Human2.76360170
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.39464942
9TAF15_26573619_Chip-Seq_HEK293_Human2.30338087
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.27533329
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.21949526
12ER_23166858_ChIP-Seq_MCF-7_Human2.18013636
13POU3F2_20337985_ChIP-ChIP_501MEL_Human2.15566456
14CTBP2_25329375_ChIP-Seq_LNCAP_Human2.13971731
15CTBP1_25329375_ChIP-Seq_LNCAP_Human2.07352458
16AR_21572438_ChIP-Seq_LNCaP_Human2.04295324
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.04005902
18NOTCH1_21737748_ChIP-Seq_TLL_Human2.03895179
19EWS_26573619_Chip-Seq_HEK293_Human2.00725580
20FUS_26573619_Chip-Seq_HEK293_Human1.94401284
21IRF1_19129219_ChIP-ChIP_H3396_Human1.85403733
22PCGF2_27294783_Chip-Seq_ESCs_Mouse1.84414076
23P300_19829295_ChIP-Seq_ESCs_Human1.80372930
24CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.72713360
25TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.70193005
26POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.68835798
27TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.68835798
28TP53_22573176_ChIP-Seq_HFKS_Human1.65854952
29IRF8_22096565_ChIP-ChIP_GC-B_Human1.64853772
30EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.61786789
31STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.60964946
32MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.59963735
33SALL1_21062744_ChIP-ChIP_HESCs_Human1.56930557
34BCAT_22108803_ChIP-Seq_LS180_Human1.49025950
35HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.48427808
36MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.48180483
37AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.47508221
38BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.47457122
39PCGF2_27294783_Chip-Seq_NPCs_Mouse1.46261413
40SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.45902656
41STAT3_23295773_ChIP-Seq_U87_Human1.42326527
42UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.40989035
43IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.39777443
44CBP_20019798_ChIP-Seq_JUKART_Human1.39777443
45MYC_18940864_ChIP-ChIP_HL60_Human1.39265277
46AR_25329375_ChIP-Seq_VCAP_Human1.35520335
47GABP_17652178_ChIP-ChIP_JURKAT_Human1.35117236
48EST1_17652178_ChIP-ChIP_JURKAT_Human1.33558361
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.32203707
50SUZ12_27294783_Chip-Seq_NPCs_Mouse1.31793573
51TCF4_23295773_ChIP-Seq_U87_Human1.31471160
52NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.30849362
53SMAD4_21799915_ChIP-Seq_A2780_Human1.30071488
54PRDM14_20953172_ChIP-Seq_ESCs_Human1.29943203
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.29159844
56BMI1_23680149_ChIP-Seq_NPCS_Mouse1.29080079
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.28225047
58REST_21632747_ChIP-Seq_MESCs_Mouse1.26718324
59NFE2_27457419_Chip-Seq_LIVER_Mouse1.26287540
60MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.25053974
61FOXA1_27270436_Chip-Seq_PROSTATE_Human1.22925357
62FOXA1_25329375_ChIP-Seq_VCAP_Human1.22925357
63SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20993590
64SOX2_19829295_ChIP-Seq_ESCs_Human1.20763453
65NANOG_19829295_ChIP-Seq_ESCs_Human1.20763453
66GATA3_21878914_ChIP-Seq_MCF-7_Human1.18994395
67FLI1_21867929_ChIP-Seq_TH2_Mouse1.18713395
68RUNX2_22187159_ChIP-Seq_PCA_Human1.18516334
69TOP2B_26459242_ChIP-Seq_MCF-7_Human1.18322212
70VDR_23849224_ChIP-Seq_CD4+_Human1.18112602
71GATA3_26560356_Chip-Seq_TH2_Human1.17924515
72GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.17526703
73EZH2_27294783_Chip-Seq_NPCs_Mouse1.15865189
74TP53_16413492_ChIP-PET_HCT116_Human1.15799035
75ETV2_25802403_ChIP-Seq_MESCs_Mouse1.14011708
76FOXA1_21572438_ChIP-Seq_LNCaP_Human1.11874967
77HOXB7_26014856_ChIP-Seq_BT474_Human1.10518333
78IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.10382681
79KLF5_20875108_ChIP-Seq_MESCs_Mouse1.09173027
80ELK1_19687146_ChIP-ChIP_HELA_Human1.08445251
81RNF2_27304074_Chip-Seq_NSC_Mouse1.08278527
82TCF4_22108803_ChIP-Seq_LS180_Human1.07416242
83NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06040640
84TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05451852
85CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.05074963
86SMAD3_21741376_ChIP-Seq_EPCs_Human1.01837199
87AR_20517297_ChIP-Seq_VCAP_Human1.01725581
88GATA1_22025678_ChIP-Seq_K562_Human0.99584811
89CRX_20693478_ChIP-Seq_RETINA_Mouse0.99322490
90NCOR_22424771_ChIP-Seq_293T_Human0.98435676
91TP63_19390658_ChIP-ChIP_HaCaT_Human0.97055339
92OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.95670070
93SMAD4_21741376_ChIP-Seq_EPCs_Human0.95203512
94PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.93401258
95SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93171621
96CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.92391546
97TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.91300450
98MYC_19829295_ChIP-Seq_ESCs_Human0.91121707
99EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90323633
100EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.90300282

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation5.00770876
2MP0008877_abnormal_DNA_methylation3.41060365
3MP0002102_abnormal_ear_morphology3.17980468
4MP0003195_calcinosis2.75197600
5MP0006072_abnormal_retinal_apoptosis2.43885206
6MP0003787_abnormal_imprinting2.27892922
7MP0004142_abnormal_muscle_tone2.14581718
8MP0000372_irregular_coat_pigmentation2.04173866
9MP0009046_muscle_twitch2.02175985
10MP0000427_abnormal_hair_cycle1.90732280
11MP0005551_abnormal_eye_electrophysiolog1.88855017
12MP0005174_abnormal_tail_pigmentation1.77459865
13MP0008875_abnormal_xenobiotic_pharmacok1.76821019
14MP0002277_abnormal_respiratory_mucosa1.70718730
15MP0008995_early_reproductive_senescence1.70647279
16MP0002876_abnormal_thyroid_physiology1.67359136
17MP0003136_yellow_coat_color1.66949910
18MP0005253_abnormal_eye_physiology1.66023500
19MP0002653_abnormal_ependyma_morphology1.63462240
20MP0004133_heterotaxia1.59851256
21MP0005671_abnormal_response_to1.59478367
22MP0009745_abnormal_behavioral_response1.58210222
23MP0010386_abnormal_urinary_bladder1.52326554
24MP0002928_abnormal_bile_duct1.51656062
25MP0002163_abnormal_gland_morphology1.49665858
26MP0002009_preneoplasia1.47481468
27MP0001968_abnormal_touch/_nociception1.46022948
28MP0000685_abnormal_immune_system1.45132639
29MP0004742_abnormal_vestibular_system1.43188599
30MP0002067_abnormal_sensory_capabilities1.41555643
31MP0003122_maternal_imprinting1.41489255
32MP0002272_abnormal_nervous_system1.39843422
33MP0005645_abnormal_hypothalamus_physiol1.38153967
34MP0006276_abnormal_autonomic_nervous1.36817193
35MP0003646_muscle_fatigue1.33946243
36MP0003890_abnormal_embryonic-extraembry1.33659203
37MP0005084_abnormal_gallbladder_morpholo1.32899932
38MP0001919_abnormal_reproductive_system1.32505520
39MP0000383_abnormal_hair_follicle1.31061214
40MP0005379_endocrine/exocrine_gland_phen1.29961311
41MP0000015_abnormal_ear_pigmentation1.27561013
42MP0002638_abnormal_pupillary_reflex1.27165629
43MP0003121_genomic_imprinting1.27113638
44MP0008872_abnormal_physiological_respon1.26392972
45MP0001529_abnormal_vocalization1.26172815
46MP0001986_abnormal_taste_sensitivity1.25777793
47MP0002572_abnormal_emotion/affect_behav1.20497874
48MP0000631_abnormal_neuroendocrine_gland1.19800191
49MP0002736_abnormal_nociception_after1.16994889
50MP0002095_abnormal_skin_pigmentation1.16339100
51MP0004381_abnormal_hair_follicle1.15459364
52MP0005310_abnormal_salivary_gland1.14714150
53MP0003724_increased_susceptibility_to1.14628321
54MP0002557_abnormal_social/conspecific_i1.13533596
55MP0003011_delayed_dark_adaptation1.13326410
56MP0001800_abnormal_humoral_immune1.12782861
57MP0001485_abnormal_pinna_reflex1.08703494
58MP0005386_behavior/neurological_phenoty1.08605982
59MP0004924_abnormal_behavior1.08605982
60MP0004885_abnormal_endolymph1.08481726
61MP0002938_white_spotting1.06646575
62MP0002064_seizures1.06535633
63MP0003252_abnormal_bile_duct1.05697455
64MP0004147_increased_porphyrin_level1.05350685
65MP0001501_abnormal_sleep_pattern1.04735927
66MP0005389_reproductive_system_phenotype1.03791563
67MP0001486_abnormal_startle_reflex1.01798435
68MP0005410_abnormal_fertilization1.01638780
69MP0005075_abnormal_melanosome_morpholog1.01420792
70MP0003283_abnormal_digestive_organ0.96675411
71MP0002693_abnormal_pancreas_physiology0.95129073
72MP0002751_abnormal_autonomic_nervous0.94832576
73MP0002063_abnormal_learning/memory/cond0.92543170
74MP0001835_abnormal_antigen_presentation0.92486596
75MP0002229_neurodegeneration0.89819718
76MP0003763_abnormal_thymus_physiology0.87608481
77MP0001970_abnormal_pain_threshold0.87574397
78MP0002837_dystrophic_cardiac_calcinosis0.87026101
79MP0003698_abnormal_male_reproductive0.86492262
80MP0005195_abnormal_posterior_eye0.85691869
81MP0006292_abnormal_olfactory_placode0.85444768
82MP0004043_abnormal_pH_regulation0.84521632
83MP0005266_abnormal_metabolism0.84303652
84MP0001984_abnormal_olfaction0.83928856
85MP0001790_abnormal_immune_system0.83431914
86MP0005387_immune_system_phenotype0.83431914
87MP0002909_abnormal_adrenal_gland0.83387870
88MP0002138_abnormal_hepatobiliary_system0.83226819
89MP0005377_hearing/vestibular/ear_phenot0.82559001
90MP0003878_abnormal_ear_physiology0.82559001
91MP0002160_abnormal_reproductive_system0.80862139
92MP0002733_abnormal_thermal_nociception0.79699020
93MP0001324_abnormal_eye_pigmentation0.79364141
94MP0000647_abnormal_sebaceous_gland0.78968463
95MP0002723_abnormal_immune_serum0.78790518
96MP0000778_abnormal_nervous_system0.77506000
97MP0001905_abnormal_dopamine_level0.76384127
98MP0003635_abnormal_synaptic_transmissio0.76381543
99MP0005167_abnormal_blood-brain_barrier0.76032994
100MP0002752_abnormal_somatic_nervous0.73823146

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of midbrain morphology (HP:0002418)4.17071716
2Molar tooth sign on MRI (HP:0002419)4.17071716
3Pancreatic cysts (HP:0001737)4.07739471
4Type II lissencephaly (HP:0007260)4.06378834
5Chronic hepatic failure (HP:0100626)3.64438972
6Nephronophthisis (HP:0000090)3.60497598
7Pancreatic fibrosis (HP:0100732)3.49245921
8Congenital stationary night blindness (HP:0007642)3.38737762
9True hermaphroditism (HP:0010459)3.27537123
10Abnormality of the renal medulla (HP:0100957)3.19008215
11Abnormality of the renal cortex (HP:0011035)3.18821775
12Birth length less than 3rd percentile (HP:0003561)3.11555273
13Hypothermia (HP:0002045)3.03041949
14Cerebellar dysplasia (HP:0007033)2.94363617
15Lissencephaly (HP:0001339)2.91778691
16Large for gestational age (HP:0001520)2.88285398
17Attenuation of retinal blood vessels (HP:0007843)2.86909307
18Hyperventilation (HP:0002883)2.82634181
19Inability to walk (HP:0002540)2.78107320
20Concave nail (HP:0001598)2.77779020
21Abnormality of alanine metabolism (HP:0010916)2.75740429
22Hyperalaninemia (HP:0003348)2.75740429
23Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.75740429
24Abnormality of the pons (HP:0007361)2.67353868
25Protruding tongue (HP:0010808)2.49274413
26Tubular atrophy (HP:0000092)2.46770568
27Patellar aplasia (HP:0006443)2.46691504
28Polydipsia (HP:0001959)2.45778107
29Abnormal drinking behavior (HP:0030082)2.45778107
30Hypoplasia of the pons (HP:0012110)2.43321188
31Global brain atrophy (HP:0002283)2.40623501
32Medial flaring of the eyebrow (HP:0010747)2.38833432
33Fair hair (HP:0002286)2.37954065
34Genetic anticipation (HP:0003743)2.37429204
35Dynein arm defect of respiratory motile cilia (HP:0012255)2.37429103
36Absent/shortened dynein arms (HP:0200106)2.37429103
37Abnormal rod and cone electroretinograms (HP:0008323)2.36924203
38Abolished electroretinogram (ERG) (HP:0000550)2.34524478
39Retinal dysplasia (HP:0007973)2.30595213
40Cystic liver disease (HP:0006706)2.30480905
41Absent rod-and cone-mediated responses on ERG (HP:0007688)2.29979590
42Congenital, generalized hypertrichosis (HP:0004540)2.29214406
43Renal cortical cysts (HP:0000803)2.27586737
44Aplasia/Hypoplasia of the patella (HP:0006498)2.26968679
45Furrowed tongue (HP:0000221)2.21205291
46Encephalitis (HP:0002383)2.18991805
47Stomach cancer (HP:0012126)2.18730570
48Progressive cerebellar ataxia (HP:0002073)2.18611939
49Abnormality of lateral ventricle (HP:0030047)2.18075781
50Pachygyria (HP:0001302)2.17692127
51Febrile seizures (HP:0002373)2.16092718
52Decreased circulating renin level (HP:0003351)2.14080916
53Polyuria (HP:0000103)2.12304901
54Ketosis (HP:0001946)2.11621681
55Progressive inability to walk (HP:0002505)2.11216503
56Severe muscular hypotonia (HP:0006829)2.10749665
57Optic disc pallor (HP:0000543)2.09114462
58Broad-based gait (HP:0002136)2.06350399
59Gait imbalance (HP:0002141)2.03860997
60Generalized hypopigmentation of hair (HP:0011358)2.00991944
61Increased corneal curvature (HP:0100692)2.00698818
62Keratoconus (HP:0000563)2.00698818
63Clumsiness (HP:0002312)1.98764729
64Sclerocornea (HP:0000647)1.96091526
653-Methylglutaconic aciduria (HP:0003535)1.94722802
66Aplasia/Hypoplasia of the uvula (HP:0010293)1.91792838
67Abnormal biliary tract physiology (HP:0012439)1.90210963
68Bile duct proliferation (HP:0001408)1.90210963
69Atonic seizures (HP:0010819)1.87241010
70Conical tooth (HP:0000698)1.85714159
71Stomatitis (HP:0010280)1.85303368
72Abnormal respiratory epithelium morphology (HP:0012253)1.84024969
73Abnormal respiratory motile cilium morphology (HP:0005938)1.84024969
74Acute necrotizing encephalopathy (HP:0006965)1.83439937
75Gaze-evoked nystagmus (HP:0000640)1.80295784
76Pendular nystagmus (HP:0012043)1.80163408
77Male pseudohermaphroditism (HP:0000037)1.78059419
78IgG deficiency (HP:0004315)1.77606094
79Progressive macrocephaly (HP:0004481)1.77116484
80Widely spaced teeth (HP:0000687)1.76537302
81Dialeptic seizures (HP:0011146)1.75810145
82Agitation (HP:0000713)1.73907501
83Absent speech (HP:0001344)1.73444038
84Increased CSF lactate (HP:0002490)1.71943928
85Limb dystonia (HP:0002451)1.71738753
86Morphological abnormality of the pyramidal tract (HP:0002062)1.71381563
87Congenital primary aphakia (HP:0007707)1.70719729
88Congenital hepatic fibrosis (HP:0002612)1.70689244
89Decreased central vision (HP:0007663)1.70334547
90Abnormal delayed hypersensitivity skin test (HP:0002963)1.69836931
91Hypomagnesemia (HP:0002917)1.69379429
92Optic neuritis (HP:0100653)1.67463020
93Retrobulbar optic neuritis (HP:0100654)1.67463020
94Abnormal ciliary motility (HP:0012262)1.67113151
95Absence seizures (HP:0002121)1.66696099
96Aplasia/Hypoplasia of the tongue (HP:0010295)1.65969184
97Bulbous nose (HP:0000414)1.65238059
98Aplasia/Hypoplasia of the tibia (HP:0005772)1.64959526
99Mitochondrial inheritance (HP:0001427)1.64028803
100Poor coordination (HP:0002370)1.63806395

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.86300075
2ADRBK23.65115228
3TLK12.98922599
4PINK12.88817682
5BMPR1B2.84308256
6ZAK2.76515732
7TAOK32.53302627
8CASK2.51079702
9WNK42.39267282
10ACVR1B2.24005700
11TXK2.13868748
12MAPK132.11453862
13MARK11.99767850
14WNK31.98753982
15MAP2K61.90685122
16INSRR1.89316313
17MAP4K21.86369781
18GRK11.77765992
19TNIK1.66130551
20CAMKK21.60476812
21NTRK31.54845257
22PAK31.46847101
23DYRK21.45700881
24NUAK11.41883353
25OXSR11.26950956
26TGFBR11.13982383
27DAPK21.10834468
28NLK1.08150778
29STK391.00517020
30SYK0.96346479
31ADRBK10.96116837
32MAPK150.94550138
33IRAK10.92569478
34BRSK20.89990824
35BCR0.88842165
36PIK3CA0.87940075
37PNCK0.87211914
38MAP4K10.84170487
39RPS6KA50.83945129
40ITK0.80668607
41MKNK20.80136578
42PRKCQ0.79295958
43TRIM280.78387561
44IKBKB0.76751993
45PTK2B0.76436160
46MARK30.75662754
47CHUK0.74637054
48NME10.74587190
49FES0.72543982
50MUSK0.72398889
51MAP3K40.72195451
52IKBKE0.70774442
53VRK10.70000835
54NEK20.69199787
55PRKCE0.66096218
56TEC0.65545296
57MAP2K70.61330330
58PHKG20.59186379
59PHKG10.59186379
60PRKCG0.58501812
61FGFR20.58440313
62LYN0.57721688
63CDK30.55220416
64SGK20.54924426
65OBSCN0.53633724
66WEE10.52310141
67CSNK1G20.51762880
68LCK0.51214457
69CSNK1A1L0.51185093
70CAMKK10.50650547
71WNK10.49376222
72STK110.48812101
73KIT0.48673361
74IRAK40.47909307
75CSNK1G30.47806629
76SGK4940.47196330
77SGK2230.47196330
78DYRK1A0.46841731
79CSNK1G10.45498990
80PKN10.44506059
81PRKAA10.43993436
82PRKCZ0.43306214
83GRK70.43079565
84TIE10.42409137
85BTK0.42098469
86AKT30.41913773
87PIM10.39535488
88DYRK1B0.39513256
89PASK0.39059808
90CAMK1D0.36529223
91CAMK40.36461401
92DYRK30.36145656
93ERBB30.35671741
94KSR10.34023776
95TRPM70.33901295
96ERBB20.32804599
97TYRO30.31997015
98MATK0.31083376
99PRKACA0.30779228
100PRKCI0.30650602

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.13341379
2Butanoate metabolism_Homo sapiens_hsa006503.08990172
3Phototransduction_Homo sapiens_hsa047442.88376426
4Linoleic acid metabolism_Homo sapiens_hsa005912.85283088
5Selenocompound metabolism_Homo sapiens_hsa004502.68054569
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.54946033
7Nitrogen metabolism_Homo sapiens_hsa009102.54386198
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.43109533
9Oxidative phosphorylation_Homo sapiens_hsa001902.35069155
10Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.29223975
11Tryptophan metabolism_Homo sapiens_hsa003802.24099787
12Basal transcription factors_Homo sapiens_hsa030222.00663140
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.93407747
14Intestinal immune network for IgA production_Homo sapiens_hsa046721.90848569
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.90147085
16Parkinsons disease_Homo sapiens_hsa050121.89140111
17Nicotine addiction_Homo sapiens_hsa050331.80585169
18Maturity onset diabetes of the young_Homo sapiens_hsa049501.76448579
19Ether lipid metabolism_Homo sapiens_hsa005651.68930558
20Primary immunodeficiency_Homo sapiens_hsa053401.66513885
21Fanconi anemia pathway_Homo sapiens_hsa034601.63880914
22RNA degradation_Homo sapiens_hsa030181.59154740
23Olfactory transduction_Homo sapiens_hsa047401.47941466
24Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.44216554
25Taste transduction_Homo sapiens_hsa047421.39045554
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.37085349
27One carbon pool by folate_Homo sapiens_hsa006701.30790563
28Asthma_Homo sapiens_hsa053101.30124917
29Alzheimers disease_Homo sapiens_hsa050101.25021899
30Morphine addiction_Homo sapiens_hsa050321.23060996
31Regulation of autophagy_Homo sapiens_hsa041401.20589953
32Homologous recombination_Homo sapiens_hsa034401.19669307
33ABC transporters_Homo sapiens_hsa020101.17381661
34Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.16416471
35Type I diabetes mellitus_Homo sapiens_hsa049401.13452346
36Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.12018174
37Peroxisome_Homo sapiens_hsa041461.10716160
38Huntingtons disease_Homo sapiens_hsa050161.09698040
39Serotonergic synapse_Homo sapiens_hsa047261.08445471
40Cardiac muscle contraction_Homo sapiens_hsa042601.07853202
41Caffeine metabolism_Homo sapiens_hsa002321.07612417
42RNA polymerase_Homo sapiens_hsa030201.04981793
43Arachidonic acid metabolism_Homo sapiens_hsa005901.04151079
44Allograft rejection_Homo sapiens_hsa053301.03944092
45Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.01201667
46Graft-versus-host disease_Homo sapiens_hsa053320.98875990
47Protein export_Homo sapiens_hsa030600.97855731
48T cell receptor signaling pathway_Homo sapiens_hsa046600.96478276
49Autoimmune thyroid disease_Homo sapiens_hsa053200.93655964
50GABAergic synapse_Homo sapiens_hsa047270.92504199
51Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.90398579
52Collecting duct acid secretion_Homo sapiens_hsa049660.84596600
53Glutamatergic synapse_Homo sapiens_hsa047240.81803238
54Circadian entrainment_Homo sapiens_hsa047130.80520521
55NOD-like receptor signaling pathway_Homo sapiens_hsa046210.79813738
56Vascular smooth muscle contraction_Homo sapiens_hsa042700.76653280
57Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.75166196
58Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.74560912
59NF-kappa B signaling pathway_Homo sapiens_hsa040640.74375693
60Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.72471031
61Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.71993420
62Systemic lupus erythematosus_Homo sapiens_hsa053220.71310322
63Steroid hormone biosynthesis_Homo sapiens_hsa001400.66947001
64Cholinergic synapse_Homo sapiens_hsa047250.61981046
65Circadian rhythm_Homo sapiens_hsa047100.61946920
66Propanoate metabolism_Homo sapiens_hsa006400.59912923
67Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.59625007
68Dorso-ventral axis formation_Homo sapiens_hsa043200.59199045
69Ovarian steroidogenesis_Homo sapiens_hsa049130.58950441
70Chemical carcinogenesis_Homo sapiens_hsa052040.56792607
71Insulin secretion_Homo sapiens_hsa049110.56576924
72Lysine degradation_Homo sapiens_hsa003100.56499854
73Rheumatoid arthritis_Homo sapiens_hsa053230.54559693
74Calcium signaling pathway_Homo sapiens_hsa040200.53973678
75RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.52419461
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.52042678
77Hematopoietic cell lineage_Homo sapiens_hsa046400.50556743
78Oxytocin signaling pathway_Homo sapiens_hsa049210.48564042
79Cyanoamino acid metabolism_Homo sapiens_hsa004600.48110873
80Fatty acid biosynthesis_Homo sapiens_hsa000610.47937493
81Alcoholism_Homo sapiens_hsa050340.47729401
82Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.45128933
83Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.44880134
84Dopaminergic synapse_Homo sapiens_hsa047280.43669555
85Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.42129052
86Primary bile acid biosynthesis_Homo sapiens_hsa001200.41610849
87Non-homologous end-joining_Homo sapiens_hsa034500.39709298
88Fat digestion and absorption_Homo sapiens_hsa049750.39346233
89Antigen processing and presentation_Homo sapiens_hsa046120.37263025
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.36797132
91Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.36215309
92Proteasome_Homo sapiens_hsa030500.35651728
93Steroid biosynthesis_Homo sapiens_hsa001000.33473220
94Jak-STAT signaling pathway_Homo sapiens_hsa046300.33073109
95Salivary secretion_Homo sapiens_hsa049700.33049536
96Glycerolipid metabolism_Homo sapiens_hsa005610.32800892
97Long-term depression_Homo sapiens_hsa047300.31320278
98Metabolic pathways_Homo sapiens_hsa011000.29765165
99Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.28877029
100Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.28675314

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