RNF216P1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)4.65156485
2establishment of protein localization to mitochondrial membrane (GO:0090151)4.50206878
3protein complex biogenesis (GO:0070271)4.07526539
4mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.06241557
5exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 4.03532826
6nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)4.01354221
7mitochondrial respiratory chain complex I assembly (GO:0032981)3.95497657
8NADH dehydrogenase complex assembly (GO:0010257)3.95497657
9mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.95497657
10mitochondrial respiratory chain complex assembly (GO:0033108)3.94861045
11respiratory chain complex IV assembly (GO:0008535)3.93734414
12synapsis (GO:0007129)3.86751515
13protein-cofactor linkage (GO:0018065)3.74924890
14RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.60757318
15tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.60757318
16energy coupled proton transport, down electrochemical gradient (GO:0015985)3.57993446
17ATP synthesis coupled proton transport (GO:0015986)3.57993446
18rRNA modification (GO:0000154)3.57100799
19transcription elongation from RNA polymerase III promoter (GO:0006385)3.55500096
20termination of RNA polymerase III transcription (GO:0006386)3.55500096
21chaperone-mediated protein transport (GO:0072321)3.54858169
22regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.53676489
23regulation of mitotic spindle checkpoint (GO:1903504)3.53676489
24chromatin remodeling at centromere (GO:0031055)3.53669176
25DNA damage response, detection of DNA damage (GO:0042769)3.50828247
26pseudouridine synthesis (GO:0001522)3.49096310
27mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.47164304
28cytochrome complex assembly (GO:0017004)3.46162598
29piRNA metabolic process (GO:0034587)3.46013854
30DNA double-strand break processing (GO:0000729)3.45921636
31replication fork processing (GO:0031297)3.45607927
32CENP-A containing nucleosome assembly (GO:0034080)3.44037992
33histone mRNA metabolic process (GO:0008334)3.42967181
34negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.29812820
35platelet dense granule organization (GO:0060155)3.27119693
36male meiosis I (GO:0007141)3.26688232
37water-soluble vitamin biosynthetic process (GO:0042364)3.26184965
38spliceosomal snRNP assembly (GO:0000387)3.22584210
39cullin deneddylation (GO:0010388)3.20523926
40protein deneddylation (GO:0000338)3.19592867
41base-excision repair, AP site formation (GO:0006285)3.18892082
42positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.18855075
43mitochondrial RNA metabolic process (GO:0000959)3.18551557
44histone H2A acetylation (GO:0043968)3.17217972
45mannosylation (GO:0097502)3.16302914
46regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.14289472
47tRNA processing (GO:0008033)3.12893857
48DNA catabolic process, exonucleolytic (GO:0000738)3.11420997
49DNA deamination (GO:0045006)3.09247364
50maturation of 5.8S rRNA (GO:0000460)3.08280763
51inner mitochondrial membrane organization (GO:0007007)3.08155734
52protein neddylation (GO:0045116)3.07263073
53protein K6-linked ubiquitination (GO:0085020)3.04603259
54RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.03787379
55regulation of meiosis I (GO:0060631)3.03230225
56DNA replication checkpoint (GO:0000076)3.02923565
57anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.01844724
58respiratory electron transport chain (GO:0022904)3.01245128
59electron transport chain (GO:0022900)2.99068399
60negative regulation of DNA-dependent DNA replication (GO:2000104)2.98698799
61peptidyl-histidine modification (GO:0018202)2.98108075
62regulation of mitochondrial translation (GO:0070129)2.97677271
63histone exchange (GO:0043486)2.97330100
64rRNA methylation (GO:0031167)2.96931428
65somatic diversification of immune receptors via somatic mutation (GO:0002566)2.96366264
66somatic hypermutation of immunoglobulin genes (GO:0016446)2.96366264
67pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.93453160
68DNA replication-dependent nucleosome assembly (GO:0006335)2.91135968
69DNA replication-dependent nucleosome organization (GO:0034723)2.91135968
70recombinational repair (GO:0000725)2.90862564
71negative regulation of ligase activity (GO:0051352)2.90623765
72negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.90623765
73meiosis I (GO:0007127)2.90086400
74double-strand break repair via homologous recombination (GO:0000724)2.88484376
75protein targeting to mitochondrion (GO:0006626)2.88202429
76resolution of meiotic recombination intermediates (GO:0000712)2.88033305
77DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.83942268
78positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.83797106
79mismatch repair (GO:0006298)2.82463868
80signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.82359920
81signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.82359920
82signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.82359920
83tRNA metabolic process (GO:0006399)2.82252119
84protein localization to mitochondrion (GO:0070585)2.78825335
85maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.77709505
86establishment of protein localization to mitochondrion (GO:0072655)2.76757635
87centriole replication (GO:0007099)2.75796955
88intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.75687348
89signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.75687348
90transcription elongation from RNA polymerase I promoter (GO:0006362)2.74873054
91regulation of helicase activity (GO:0051095)2.73019586
92positive regulation of ligase activity (GO:0051351)2.71657032
93intracellular protein transmembrane import (GO:0044743)2.70669793
94termination of RNA polymerase I transcription (GO:0006363)2.70045382
957-methylguanosine mRNA capping (GO:0006370)2.69537395
96preassembly of GPI anchor in ER membrane (GO:0016254)2.68916578
97L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.68609699
98DNA replication-independent nucleosome organization (GO:0034724)2.67913009
99DNA replication-independent nucleosome assembly (GO:0006336)2.67913009
100regulation of cellular amino acid metabolic process (GO:0006521)2.67229143

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.70310943
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.38654252
3EST1_17652178_ChIP-ChIP_JURKAT_Human4.01639744
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.55923796
5HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.22947195
6E2F7_22180533_ChIP-Seq_HELA_Human3.04679288
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.03118201
8ZNF274_21170338_ChIP-Seq_K562_Hela3.01737361
9ETS1_20019798_ChIP-Seq_JURKAT_Human2.94768265
10ELK1_19687146_ChIP-ChIP_HELA_Human2.88186501
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.86061472
12VDR_23849224_ChIP-Seq_CD4+_Human2.71986220
13MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.68143619
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.63489385
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.60744273
16CREB1_15753290_ChIP-ChIP_HEK293T_Human2.60424855
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.55102085
18FOXP3_21729870_ChIP-Seq_TREG_Human2.29628169
19NOTCH1_21737748_ChIP-Seq_TLL_Human2.23419254
20PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.14487372
21SRF_21415370_ChIP-Seq_HL-1_Mouse2.08135175
22MYC_18555785_ChIP-Seq_MESCs_Mouse2.07510976
23FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.02025802
24ELF1_17652178_ChIP-ChIP_JURKAT_Human1.98431896
25VDR_22108803_ChIP-Seq_LS180_Human1.94597869
26SALL1_21062744_ChIP-ChIP_HESCs_Human1.94058523
27FLI1_27457419_Chip-Seq_LIVER_Mouse1.93959813
28EWS_26573619_Chip-Seq_HEK293_Human1.90658827
29MYC_18940864_ChIP-ChIP_HL60_Human1.85425706
30PADI4_21655091_ChIP-ChIP_MCF-7_Human1.81129914
31HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.78007737
32FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.72349058
33GABP_19822575_ChIP-Seq_HepG2_Human1.69344985
34IGF1R_20145208_ChIP-Seq_DFB_Human1.68747006
35DCP1A_22483619_ChIP-Seq_HELA_Human1.65679235
36MYC_19030024_ChIP-ChIP_MESCs_Mouse1.62549692
37THAP11_20581084_ChIP-Seq_MESCs_Mouse1.61354078
38PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.60776940
39MYC_18358816_ChIP-ChIP_MESCs_Mouse1.56856552
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.52350537
41POU3F2_20337985_ChIP-ChIP_501MEL_Human1.51364516
42FUS_26573619_Chip-Seq_HEK293_Human1.49392545
43GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47995988
44YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.47486145
45TTF2_22483619_ChIP-Seq_HELA_Human1.45733320
46FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.44989033
47PCGF2_27294783_Chip-Seq_ESCs_Mouse1.43499593
48IRF1_19129219_ChIP-ChIP_H3396_Human1.42182419
49P300_19829295_ChIP-Seq_ESCs_Human1.39345584
50ZFP57_27257070_Chip-Seq_ESCs_Mouse1.35295385
51TP53_22573176_ChIP-Seq_HFKS_Human1.34460988
52E2F1_18555785_ChIP-Seq_MESCs_Mouse1.31023659
53TAF15_26573619_Chip-Seq_HEK293_Human1.29465429
54GBX2_23144817_ChIP-Seq_PC3_Human1.27335291
55NELFA_20434984_ChIP-Seq_ESCs_Mouse1.26928793
56CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.20427638
57EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.20337905
58YY1_21170310_ChIP-Seq_MESCs_Mouse1.19886861
59ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.19170776
60CTBP1_25329375_ChIP-Seq_LNCAP_Human1.17578876
61POU5F1_16153702_ChIP-ChIP_HESCs_Human1.10695775
62MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.10081875
63CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.09400571
64CTBP2_25329375_ChIP-Seq_LNCAP_Human1.08612093
65ELK1_22589737_ChIP-Seq_MCF10A_Human1.08447066
66MYCN_18555785_ChIP-Seq_MESCs_Mouse1.08141270
67MYC_19079543_ChIP-ChIP_MESCs_Mouse1.07919815
68ER_23166858_ChIP-Seq_MCF-7_Human1.06645320
69POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.05590930
70KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.03776982
71ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.03047624
72MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.98127499
73KDM5A_27292631_Chip-Seq_BREAST_Human0.97836779
74GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.96665838
75E2F1_21310950_ChIP-Seq_MCF-7_Human0.96630950
76NFE2_27457419_Chip-Seq_LIVER_Mouse0.96506212
77EZH2_27294783_Chip-Seq_NPCs_Mouse0.96494780
78CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.96270916
79TP63_19390658_ChIP-ChIP_HaCaT_Human0.95829466
80SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.95233797
81XRN2_22483619_ChIP-Seq_HELA_Human0.94858137
82POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.92892881
83UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92577792
84MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.91363673
85SUZ12_27294783_Chip-Seq_NPCs_Mouse0.91271157
86NANOG_19829295_ChIP-Seq_ESCs_Human0.91018000
87SOX2_19829295_ChIP-Seq_ESCs_Human0.91018000
88SOX2_16153702_ChIP-ChIP_HESCs_Human0.89245059
89FOXA1_25329375_ChIP-Seq_VCAP_Human0.88420247
90FOXA1_27270436_Chip-Seq_PROSTATE_Human0.88420247
91NANOG_16153702_ChIP-ChIP_HESCs_Human0.88107398
92CBP_20019798_ChIP-Seq_JUKART_Human0.86498260
93IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.86498260
94BCAT_22108803_ChIP-Seq_LS180_Human0.86070834
95E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.85472241
96GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.85016224
97FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.84710230
98AR_20517297_ChIP-Seq_VCAP_Human0.84371123
99FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78282607
100CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.77995048

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation4.41502147
2MP0008058_abnormal_DNA_repair4.31934480
3MP0010094_abnormal_chromosome_stability2.95586875
4MP0003718_maternal_effect2.83974097
5MP0006292_abnormal_olfactory_placode2.83895565
6MP0003693_abnormal_embryo_hatching2.67420783
7MP0000569_abnormal_digit_pigmentation2.47560640
8MP0006072_abnormal_retinal_apoptosis2.41016836
9MP0003195_calcinosis2.19959843
10MP0002102_abnormal_ear_morphology2.19590612
11MP0003111_abnormal_nucleus_morphology2.10948471
12MP0003121_genomic_imprinting2.03444719
13MP0001529_abnormal_vocalization2.02767478
14MP0003787_abnormal_imprinting2.01214714
15MP0003786_premature_aging1.97852060
16MP0005075_abnormal_melanosome_morpholog1.96601450
17MP0008057_abnormal_DNA_replication1.95249455
18MP0002938_white_spotting1.85630570
19MP0008789_abnormal_olfactory_epithelium1.83963673
20MP0003077_abnormal_cell_cycle1.83758145
21MP0008007_abnormal_cellular_replicative1.83362009
22MP0004957_abnormal_blastocyst_morpholog1.79629798
23MP0001986_abnormal_taste_sensitivity1.78932773
24MP0002837_dystrophic_cardiac_calcinosis1.76496618
25MP0002736_abnormal_nociception_after1.75189822
26MP0008932_abnormal_embryonic_tissue1.70944284
27MP0003806_abnormal_nucleotide_metabolis1.66667800
28MP0002751_abnormal_autonomic_nervous1.63420631
29MP0003186_abnormal_redox_activity1.63237577
30MP0001929_abnormal_gametogenesis1.58820450
31MP0006035_abnormal_mitochondrial_morpho1.58506264
32MP0005551_abnormal_eye_electrophysiolog1.57279625
33MP0005253_abnormal_eye_physiology1.57077722
34MP0001984_abnormal_olfaction1.50095930
35MP0002210_abnormal_sex_determination1.49272364
36MP0001293_anophthalmia1.47966015
37MP0005394_taste/olfaction_phenotype1.47803836
38MP0005499_abnormal_olfactory_system1.47803836
39MP0000372_irregular_coat_pigmentation1.46852051
40MP0004147_increased_porphyrin_level1.45823180
41MP0001968_abnormal_touch/_nociception1.45278855
42MP0005084_abnormal_gallbladder_morpholo1.45038005
43MP0003890_abnormal_embryonic-extraembry1.44952805
44MP0008995_early_reproductive_senescence1.42593892
45MP0002095_abnormal_skin_pigmentation1.42302712
46MP0006054_spinal_hemorrhage1.34154321
47MP0002653_abnormal_ependyma_morphology1.31033626
48MP0006036_abnormal_mitochondrial_physio1.28632871
49MP0005174_abnormal_tail_pigmentation1.25881790
50MP0000653_abnormal_sex_gland1.22511869
51MP0003646_muscle_fatigue1.20437458
52MP0001145_abnormal_male_reproductive1.19002773
53MP0003136_yellow_coat_color1.18998670
54MP0003122_maternal_imprinting1.15385988
55MP0003880_abnormal_central_pattern1.13851886
56MP0001764_abnormal_homeostasis1.12726095
57MP0000427_abnormal_hair_cycle1.12693841
58MP0002160_abnormal_reproductive_system1.11217775
59MP0004142_abnormal_muscle_tone1.09344641
60MP0000516_abnormal_urinary_system1.08896906
61MP0005367_renal/urinary_system_phenotyp1.08896906
62MP0000631_abnormal_neuroendocrine_gland1.05381847
63MP0004133_heterotaxia1.04143510
64MP0002277_abnormal_respiratory_mucosa1.03830710
65MP0003698_abnormal_male_reproductive1.03417317
66MP0009697_abnormal_copulation1.03381428
67MP0003937_abnormal_limbs/digits/tail_de1.02790714
68MP0001119_abnormal_female_reproductive1.02268542
69MP0000358_abnormal_cell_content/1.01184134
70MP0000647_abnormal_sebaceous_gland1.00603366
71MP0005389_reproductive_system_phenotype0.97834982
72MP0000015_abnormal_ear_pigmentation0.97751426
73MP0003119_abnormal_digestive_system0.94982598
74MP0005410_abnormal_fertilization0.94897119
75MP0005645_abnormal_hypothalamus_physiol0.94797909
76MP0008875_abnormal_xenobiotic_pharmacok0.93977746
77MP0002233_abnormal_nose_morphology0.90581652
78MP0008872_abnormal_physiological_respon0.90224143
79MP0005395_other_phenotype0.88206555
80MP0009046_muscle_twitch0.87610273
81MP0002254_reproductive_system_inflammat0.84438551
82MP0003950_abnormal_plasma_membrane0.83944804
83MP0002234_abnormal_pharynx_morphology0.82963497
84MP0006276_abnormal_autonomic_nervous0.78837133
85MP0005408_hypopigmentation0.77190127
86MP0002163_abnormal_gland_morphology0.76028961
87MP0005391_vision/eye_phenotype0.75684001
88MP0001286_abnormal_eye_development0.73677048
89MP0003011_delayed_dark_adaptation0.73509018
90MP0000049_abnormal_middle_ear0.73436318
91MP0001697_abnormal_embryo_size0.71680050
92MP0002735_abnormal_chemical_nociception0.71639152
93MP0005195_abnormal_posterior_eye0.70204345
94MP0002396_abnormal_hematopoietic_system0.67135521
95MP0003567_abnormal_fetal_cardiomyocyte0.64959025
96MP0002638_abnormal_pupillary_reflex0.63588478
97MP0002161_abnormal_fertility/fecundity0.63428891
98MP0001905_abnormal_dopamine_level0.62918548
99MP0005266_abnormal_metabolism0.61982778
100MP0002928_abnormal_bile_duct0.60643033

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)3.89696258
2Mitochondrial inheritance (HP:0001427)3.66804178
3Increased CSF lactate (HP:0002490)3.49271430
4Acute encephalopathy (HP:0006846)3.48684517
5Molar tooth sign on MRI (HP:0002419)3.48199454
6Abnormality of midbrain morphology (HP:0002418)3.48199454
7Abnormal mitochondria in muscle tissue (HP:0008316)3.43464330
8Progressive macrocephaly (HP:0004481)3.38235204
9Pancreatic cysts (HP:0001737)3.33189781
10Colon cancer (HP:0003003)3.24781847
11Pancreatic fibrosis (HP:0100732)3.22804962
12Increased hepatocellular lipid droplets (HP:0006565)3.22778644
13Lipid accumulation in hepatocytes (HP:0006561)3.19361649
14Abnormality of the labia minora (HP:0012880)3.10970798
15Hepatocellular necrosis (HP:0001404)3.07461650
16True hermaphroditism (HP:0010459)2.96969387
17Methylmalonic acidemia (HP:0002912)2.82715066
18Hepatic necrosis (HP:0002605)2.78061331
19Chromosomal breakage induced by crosslinking agents (HP:0003221)2.73002340
20Type II lissencephaly (HP:0007260)2.72215405
21Nephronophthisis (HP:0000090)2.68681735
22Chromsome breakage (HP:0040012)2.68343907
23Renal cortical cysts (HP:0000803)2.65878363
24Medial flaring of the eyebrow (HP:0010747)2.63285051
25Methylmalonic aciduria (HP:0012120)2.61976761
26Abnormality of the renal cortex (HP:0011035)2.56912751
27Abnormal number of erythroid precursors (HP:0012131)2.55952144
28Congenital stationary night blindness (HP:0007642)2.53027443
29Aplasia/Hypoplasia of the tibia (HP:0005772)2.49386974
30Renal Fanconi syndrome (HP:0001994)2.48316431
31Abnormality of the pons (HP:0007361)2.48061504
32Hypoplasia of the pons (HP:0012110)2.44703878
33Short tibia (HP:0005736)2.43798324
343-Methylglutaconic aciduria (HP:0003535)2.43719536
35Type I transferrin isoform profile (HP:0003642)2.43591966
36Increased serum lactate (HP:0002151)2.39455595
37Cerebral edema (HP:0002181)2.38618302
38Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.34744050
39Aplasia/Hypoplasia of the uvula (HP:0010293)2.33920848
40Abnormal protein glycosylation (HP:0012346)2.28076691
41Abnormal glycosylation (HP:0012345)2.28076691
42Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.28076691
43Abnormal protein N-linked glycosylation (HP:0012347)2.28076691
44Meckel diverticulum (HP:0002245)2.25141017
45Abnormality of the renal medulla (HP:0100957)2.24775099
46Abnormal biliary tract physiology (HP:0012439)2.18437123
47Bile duct proliferation (HP:0001408)2.18437123
48Optic disc pallor (HP:0000543)2.17686745
49Abnormality of the ileum (HP:0001549)2.16518858
50Cerebellar dysplasia (HP:0007033)2.15890023
51Reticulocytopenia (HP:0001896)2.13882378
52Abnormality of chromosome stability (HP:0003220)2.13765315
53Abnormality of cells of the erythroid lineage (HP:0012130)2.12295819
54Increased intramyocellular lipid droplets (HP:0012240)2.10176703
55Lactic acidosis (HP:0003128)2.09445341
56Hyperglycinemia (HP:0002154)2.07657517
57Aplasia/Hypoplasia of the tongue (HP:0010295)2.06886606
58Abnormality of DNA repair (HP:0003254)2.05678056
59Aplastic anemia (HP:0001915)2.04458558
60Congenital primary aphakia (HP:0007707)2.03740718
61Decreased activity of mitochondrial respiratory chain (HP:0008972)2.02697932
62Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.02697932
63Pancytopenia (HP:0001876)1.99939287
64Retinal dysplasia (HP:0007973)1.98939156
65Sclerocornea (HP:0000647)1.98449899
66Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.97212080
67Respiratory failure (HP:0002878)1.96165841
68Exertional dyspnea (HP:0002875)1.96021826
69Anencephaly (HP:0002323)1.95932098
70Gait imbalance (HP:0002141)1.95339141
71Abnormality of the renal collecting system (HP:0004742)1.92032478
72Stomach cancer (HP:0012126)1.91253660
73Pendular nystagmus (HP:0012043)1.90857018
74Sloping forehead (HP:0000340)1.90843593
75Duplicated collecting system (HP:0000081)1.90652899
76Bifid tongue (HP:0010297)1.90047012
77Abnormality of the preputium (HP:0100587)1.88670563
78Abnormality of methionine metabolism (HP:0010901)1.87921421
79Supernumerary spleens (HP:0009799)1.87750116
80Hypothermia (HP:0002045)1.86637939
81Nephrogenic diabetes insipidus (HP:0009806)1.85978199
82Attenuation of retinal blood vessels (HP:0007843)1.85199448
83Ectopic kidney (HP:0000086)1.85129318
84Small hand (HP:0200055)1.84563164
85Birth length less than 3rd percentile (HP:0003561)1.82966379
86Dandy-Walker malformation (HP:0001305)1.81294216
87Abnormality of aspartate family amino acid metabolism (HP:0010899)1.81077749
88Horseshoe kidney (HP:0000085)1.80933763
89Lethargy (HP:0001254)1.80316464
90Lissencephaly (HP:0001339)1.79875930
91Progressive inability to walk (HP:0002505)1.77291421
92Genital tract atresia (HP:0001827)1.77013391
93Absent rod-and cone-mediated responses on ERG (HP:0007688)1.76078018
94Absent thumb (HP:0009777)1.75028416
95Hyperventilation (HP:0002883)1.74656192
96Medulloblastoma (HP:0002885)1.73993966
97Postaxial foot polydactyly (HP:0001830)1.72930310
98Septo-optic dysplasia (HP:0100842)1.72866489
99Glioma (HP:0009733)1.72585110
100Oligodactyly (hands) (HP:0001180)1.72539557

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ZAK3.18115937
2WNK32.93134431
3FRK2.85165571
4VRK22.59986102
5PBK2.58411371
6BUB12.54118506
7MAP4K22.52539186
8EIF2AK32.40018969
9NUAK12.39760253
10MST42.31176545
11BMPR1B2.23454003
12TNIK2.22287773
13SRPK12.19435356
14TRIM282.16909059
15VRK12.16836143
16TSSK62.03211785
17PLK41.99600344
18EIF2AK11.91208377
19PLK31.88086156
20INSRR1.82810110
21ADRBK21.75723558
22MKNK21.59871778
23NME11.57769079
24CDC71.57581465
25GRK11.54812037
26TLK11.54514891
27ACVR1B1.54119303
28TESK21.38040416
29STK161.35268704
30MAP3K41.32764910
31TXK1.22236825
32TAOK31.22041142
33BCKDK1.16929756
34TTK1.15651128
35PLK11.15586822
36CSNK1G31.14627669
37MAP3K121.14050629
38MAPK131.13972468
39PLK21.13705008
40MKNK11.13691659
41CSNK1G11.13339846
42DYRK21.06885989
43ATR1.03444389
44CSNK1G21.02920930
45BRSK21.02825057
46CASK1.00597322
47CSNK1A1L0.99754059
48NEK10.98661674
49OXSR10.89139834
50STK38L0.86456038
51WEE10.84109105
52BCR0.83194320
53CDK190.79906360
54CHEK20.79837529
55ERBB30.74413826
56EIF2AK20.73250376
57MAP2K70.71216354
58ATM0.67963709
59DYRK30.66215073
60TGFBR10.62669913
61TEC0.61976688
62WNK40.61492320
63AURKB0.59410085
64RPS6KA50.59241426
65PNCK0.57850442
66STK390.56641450
67PTK2B0.55139658
68CSNK2A10.53058604
69PAK30.51638966
70PRKCE0.51198288
71GRK70.48528534
72MUSK0.48513974
73CHEK10.47797053
74PDK20.47603552
75CLK10.47504655
76CCNB10.46701866
77STK30.46267315
78CSNK2A20.43447891
79AURKA0.41674150
80ADRBK10.39551154
81IKBKB0.38328551
82FLT30.38045146
83PRKCG0.36918618
84PIM10.36264003
85RPS6KA40.35600482
86STK40.34574984
87TAF10.33648299
88PIM20.31703421
89PKN10.31240338
90CSNK1E0.30804382
91BRSK10.30074928
92NLK0.29697675
93PRKCI0.29228922
94CDK80.28270508
95RAF10.26793403
96BRD40.25554853
97MARK30.25071445
98PRKACA0.25042645
99TIE10.24932629
100CAMK2A0.24109517

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.77611848
2Homologous recombination_Homo sapiens_hsa034403.36145267
3RNA polymerase_Homo sapiens_hsa030203.34237077
4Oxidative phosphorylation_Homo sapiens_hsa001903.19029116
5Mismatch repair_Homo sapiens_hsa034303.11345229
6Protein export_Homo sapiens_hsa030603.09328769
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.02738751
8Parkinsons disease_Homo sapiens_hsa050122.80707940
9Non-homologous end-joining_Homo sapiens_hsa034502.51551540
10DNA replication_Homo sapiens_hsa030302.44450089
11Ribosome_Homo sapiens_hsa030102.42880199
12Fanconi anemia pathway_Homo sapiens_hsa034602.42092439
13Basal transcription factors_Homo sapiens_hsa030222.35403189
14RNA degradation_Homo sapiens_hsa030182.18668302
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.16549945
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.08308220
17Base excision repair_Homo sapiens_hsa034102.04649510
18Huntingtons disease_Homo sapiens_hsa050162.02549422
19Nucleotide excision repair_Homo sapiens_hsa034202.00431284
20Spliceosome_Homo sapiens_hsa030401.89377077
21RNA transport_Homo sapiens_hsa030131.85005852
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.77450589
23Pyrimidine metabolism_Homo sapiens_hsa002401.72564385
24Alzheimers disease_Homo sapiens_hsa050101.56650839
25Phototransduction_Homo sapiens_hsa047441.54937398
26One carbon pool by folate_Homo sapiens_hsa006701.53462481
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.52601106
28Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.52367655
29Propanoate metabolism_Homo sapiens_hsa006401.47943775
30Steroid biosynthesis_Homo sapiens_hsa001001.45840797
31Selenocompound metabolism_Homo sapiens_hsa004501.38053781
32Purine metabolism_Homo sapiens_hsa002301.36928464
33Fatty acid elongation_Homo sapiens_hsa000621.34756757
34Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.33426206
35Cell cycle_Homo sapiens_hsa041101.13962896
36Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.08162625
37Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.04867161
38Folate biosynthesis_Homo sapiens_hsa007901.04285604
39Butanoate metabolism_Homo sapiens_hsa006501.02350435
40Regulation of autophagy_Homo sapiens_hsa041401.01607803
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.01294438
42Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.99585900
43Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.94537996
44Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.94086009
45Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.93914721
46Nitrogen metabolism_Homo sapiens_hsa009100.92099793
47Maturity onset diabetes of the young_Homo sapiens_hsa049500.90373033
48Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.86213457
49Peroxisome_Homo sapiens_hsa041460.84765484
50Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.82613788
51Cardiac muscle contraction_Homo sapiens_hsa042600.78155837
52SNARE interactions in vesicular transport_Homo sapiens_hsa041300.77149745
53Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.75551907
54Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.75529036
55p53 signaling pathway_Homo sapiens_hsa041150.75463663
56Metabolic pathways_Homo sapiens_hsa011000.73484441
57Primary immunodeficiency_Homo sapiens_hsa053400.72397415
58Oocyte meiosis_Homo sapiens_hsa041140.67713579
59mRNA surveillance pathway_Homo sapiens_hsa030150.63642713
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.61831535
61Ether lipid metabolism_Homo sapiens_hsa005650.61690444
62Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.58578554
63Collecting duct acid secretion_Homo sapiens_hsa049660.53479590
64Sulfur metabolism_Homo sapiens_hsa009200.52697687
65alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.52021448
66Linoleic acid metabolism_Homo sapiens_hsa005910.51269315
67Pyruvate metabolism_Homo sapiens_hsa006200.51259794
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.50788823
69Glutathione metabolism_Homo sapiens_hsa004800.49953353
70N-Glycan biosynthesis_Homo sapiens_hsa005100.49097151
71Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.44406274
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43735991
73Olfactory transduction_Homo sapiens_hsa047400.43610509
74Caffeine metabolism_Homo sapiens_hsa002320.40621064
75Fatty acid metabolism_Homo sapiens_hsa012120.35521115
76Taste transduction_Homo sapiens_hsa047420.35092819
77Tryptophan metabolism_Homo sapiens_hsa003800.33154962
78Sulfur relay system_Homo sapiens_hsa041220.32748055
79Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.32411737
80Pentose and glucuronate interconversions_Homo sapiens_hsa000400.30864437
81Epstein-Barr virus infection_Homo sapiens_hsa051690.28436113
82Asthma_Homo sapiens_hsa053100.27901260
83TGF-beta signaling pathway_Homo sapiens_hsa043500.26243883
84Nicotine addiction_Homo sapiens_hsa050330.25719018
85Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.23866247
86Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.22161530
87Primary bile acid biosynthesis_Homo sapiens_hsa001200.21616053
88Circadian rhythm_Homo sapiens_hsa047100.21007076
89Chemical carcinogenesis_Homo sapiens_hsa052040.20077621
90Legionellosis_Homo sapiens_hsa051340.19564469
91NOD-like receptor signaling pathway_Homo sapiens_hsa046210.19155257
92beta-Alanine metabolism_Homo sapiens_hsa004100.15803916
93Fatty acid degradation_Homo sapiens_hsa000710.13865273
94Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.12713715
95Steroid hormone biosynthesis_Homo sapiens_hsa001400.12583192
96Drug metabolism - other enzymes_Homo sapiens_hsa009830.11437616
97Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.10485050
98Retinol metabolism_Homo sapiens_hsa008300.09406652
99Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.09090899
100Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.07482107

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