SERF1B

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 is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.65623533
2energy coupled proton transport, down electrochemical gradient (GO:0015985)5.26670356
3ATP synthesis coupled proton transport (GO:0015986)5.26670356
4establishment of protein localization to mitochondrial membrane (GO:0090151)4.85326949
5mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.73157004
6chaperone-mediated protein transport (GO:0072321)4.66372335
7behavioral response to nicotine (GO:0035095)4.49785267
8protein complex biogenesis (GO:0070271)4.45999950
9respiratory electron transport chain (GO:0022904)4.32774944
10electron transport chain (GO:0022900)4.28861769
11NADH dehydrogenase complex assembly (GO:0010257)4.23283651
12mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.23283651
13mitochondrial respiratory chain complex I assembly (GO:0032981)4.23283651
14mitochondrial respiratory chain complex assembly (GO:0033108)4.17775803
15ribosomal small subunit assembly (GO:0000028)3.99955466
16protein neddylation (GO:0045116)3.97162839
17viral transcription (GO:0019083)3.79174450
18translational termination (GO:0006415)3.78193802
19respiratory chain complex IV assembly (GO:0008535)3.66492327
20transcription elongation from RNA polymerase III promoter (GO:0006385)3.57645105
21termination of RNA polymerase III transcription (GO:0006386)3.57645105
22tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.47301488
23RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.47301488
24SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.45651750
25cotranslational protein targeting to membrane (GO:0006613)3.45558396
26cytochrome complex assembly (GO:0017004)3.43987359
27water-soluble vitamin biosynthetic process (GO:0042364)3.43481997
28regulation of mitochondrial translation (GO:0070129)3.40456215
29protein targeting to ER (GO:0045047)3.38224706
30nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.37967230
31proteasome assembly (GO:0043248)3.34841569
32maturation of SSU-rRNA (GO:0030490)3.30873322
33exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.29060025
34establishment of protein localization to endoplasmic reticulum (GO:0072599)3.24295958
35translational elongation (GO:0006414)3.22196776
36ribosomal small subunit biogenesis (GO:0042274)3.21362568
37protein localization to endoplasmic reticulum (GO:0070972)3.18780171
38DNA damage response, detection of DNA damage (GO:0042769)3.06413554
39hydrogen ion transmembrane transport (GO:1902600)3.05835405
40intracellular protein transmembrane import (GO:0044743)3.00915522
41ATP biosynthetic process (GO:0006754)2.99513043
42nonmotile primary cilium assembly (GO:0035058)2.99109885
43chromatin remodeling at centromere (GO:0031055)2.96959818
44intraciliary transport (GO:0042073)2.96273224
45regulation of cilium movement (GO:0003352)2.90988207
46purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.89819641
47epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.88224711
48cellular protein complex disassembly (GO:0043624)2.88052789
49pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.87622383
50protein-cofactor linkage (GO:0018065)2.87287780
51purine nucleoside triphosphate biosynthetic process (GO:0009145)2.86808985
52cullin deneddylation (GO:0010388)2.83902219
53epithelial cilium movement (GO:0003351)2.83571270
54translation (GO:0006412)2.82512568
55pyrimidine nucleobase catabolic process (GO:0006208)2.82456844
56platelet dense granule organization (GO:0060155)2.82000405
57regulation of mitotic spindle checkpoint (GO:1903504)2.81999843
58regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.81999843
59pseudouridine synthesis (GO:0001522)2.80486765
60proton transport (GO:0015992)2.79568570
61response to pheromone (GO:0019236)2.78563898
62viral life cycle (GO:0019058)2.76929560
63hydrogen transport (GO:0006818)2.74311162
64translational initiation (GO:0006413)2.73732486
65CENP-A containing nucleosome assembly (GO:0034080)2.70678588
66nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.70451469
67establishment of protein localization to mitochondrion (GO:0072655)2.65567403
68protein targeting to mitochondrion (GO:0006626)2.64597605
69detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.63180936
70protein deneddylation (GO:0000338)2.62409268
71inner mitochondrial membrane organization (GO:0007007)2.60130889
72protein polyglutamylation (GO:0018095)2.59296329
73cellular component biogenesis (GO:0044085)2.59211132
74GTP biosynthetic process (GO:0006183)2.59123868
75ribonucleoside triphosphate biosynthetic process (GO:0009201)2.57688009
76protein localization to mitochondrion (GO:0070585)2.57672647
77organelle disassembly (GO:1903008)2.57541720
78base-excision repair, AP site formation (GO:0006285)2.56933065
79ubiquinone biosynthetic process (GO:0006744)2.56022489
80sequestering of actin monomers (GO:0042989)2.55551781
81ubiquinone metabolic process (GO:0006743)2.55324024
82spliceosomal snRNP assembly (GO:0000387)2.52363045
83peptidyl-histidine modification (GO:0018202)2.50380236
84negative regulation of transcription regulatory region DNA binding (GO:2000678)2.49904851
85ribosomal large subunit biogenesis (GO:0042273)2.49235384
86anterograde synaptic vesicle transport (GO:0048490)2.46359719
87neuron fate determination (GO:0048664)2.46259211
88protein complex disassembly (GO:0043241)2.42193211
89pyrimidine nucleotide catabolic process (GO:0006244)2.42031077
90tRNA processing (GO:0008033)2.41268349
91DNA deamination (GO:0045006)2.40517031
92negative regulation of appetite (GO:0032099)2.39398918
93negative regulation of response to food (GO:0032096)2.39398918
94DNA double-strand break processing (GO:0000729)2.39082860
95macromolecular complex disassembly (GO:0032984)2.39069585
96kinetochore assembly (GO:0051382)2.38528112
97preassembly of GPI anchor in ER membrane (GO:0016254)2.38064234
98histone exchange (GO:0043486)2.36253498
99mannosylation (GO:0097502)2.34670220
100synaptic transmission, cholinergic (GO:0007271)2.34588859

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.13249281
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.70487872
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.62840065
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.44728100
5HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.09029553
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.07839947
7ZNF274_21170338_ChIP-Seq_K562_Hela2.82413420
8MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.58555542
9NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.50909173
10VDR_22108803_ChIP-Seq_LS180_Human2.46701752
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.40039094
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.37701161
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.25248946
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.03137575
15FUS_26573619_Chip-Seq_HEK293_Human2.02890608
16ELK1_19687146_ChIP-ChIP_HELA_Human2.01533121
17CREB1_15753290_ChIP-ChIP_HEK293T_Human1.99457138
18NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.98593949
19MYC_18940864_ChIP-ChIP_HL60_Human1.97932879
20EWS_26573619_Chip-Seq_HEK293_Human1.91470266
21IGF1R_20145208_ChIP-Seq_DFB_Human1.86355590
22ZFP57_27257070_Chip-Seq_ESCs_Mouse1.82701004
23VDR_23849224_ChIP-Seq_CD4+_Human1.76320439
24TAF15_26573619_Chip-Seq_HEK293_Human1.75105209
25MYC_18555785_ChIP-Seq_MESCs_Mouse1.73074399
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.66829294
27BMI1_23680149_ChIP-Seq_NPCS_Mouse1.65514145
28GBX2_23144817_ChIP-Seq_PC3_Human1.62680068
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.61559902
30CBX2_27304074_Chip-Seq_ESCs_Mouse1.58855272
31P300_19829295_ChIP-Seq_ESCs_Human1.57555492
32PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.50053191
33POU3F2_20337985_ChIP-ChIP_501MEL_Human1.49037728
34POU5F1_16153702_ChIP-ChIP_HESCs_Human1.47846170
35FOXP3_21729870_ChIP-Seq_TREG_Human1.47735845
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.47686581
37FLI1_27457419_Chip-Seq_LIVER_Mouse1.46087718
38TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.44528834
39SRF_21415370_ChIP-Seq_HL-1_Mouse1.44449120
40RNF2_27304074_Chip-Seq_NSC_Mouse1.44414449
41MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.41452638
42GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39764093
43TP53_22573176_ChIP-Seq_HFKS_Human1.38817436
44SALL1_21062744_ChIP-ChIP_HESCs_Human1.36602883
45YY1_21170310_ChIP-Seq_MESCs_Mouse1.35920366
46THAP11_20581084_ChIP-Seq_MESCs_Mouse1.34915672
47TTF2_22483619_ChIP-Seq_HELA_Human1.33259332
48IRF1_19129219_ChIP-ChIP_H3396_Human1.31016907
49HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.30829835
50REST_21632747_ChIP-Seq_MESCs_Mouse1.30554614
51TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.27368834
52CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.26841831
53TP63_19390658_ChIP-ChIP_HaCaT_Human1.26638721
54SOX2_16153702_ChIP-ChIP_HESCs_Human1.24986849
55EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.22917055
56RBPJ_22232070_ChIP-Seq_NCS_Mouse1.21678506
57E2F4_17652178_ChIP-ChIP_JURKAT_Human1.20912672
58GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.18948044
59POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.18533547
60EZH2_27304074_Chip-Seq_ESCs_Mouse1.18244059
61FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.17623153
62PCGF2_27294783_Chip-Seq_ESCs_Mouse1.15097464
63GABP_19822575_ChIP-Seq_HepG2_Human1.13257904
64PADI4_21655091_ChIP-ChIP_MCF-7_Human1.11058476
65IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.09441657
66CBP_20019798_ChIP-Seq_JUKART_Human1.09441657
67MYC_18358816_ChIP-ChIP_MESCs_Mouse1.08979432
68FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.08947945
69NOTCH1_21737748_ChIP-Seq_TLL_Human1.05669701
70PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.02935569
71XRN2_22483619_ChIP-Seq_HELA_Human1.01420886
72REST_18959480_ChIP-ChIP_MESCs_Mouse1.01322716
73SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.01218506
74MYC_19030024_ChIP-ChIP_MESCs_Mouse1.00532676
75UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.00188979
76SOX2_19829295_ChIP-Seq_ESCs_Human0.98551422
77NANOG_19829295_ChIP-Seq_ESCs_Human0.98551422
78FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.98237226
79TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97629854
80EED_16625203_ChIP-ChIP_MESCs_Mouse0.95137589
81SOX2_18555785_ChIP-Seq_MESCs_Mouse0.94494189
82YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93375681
83ER_23166858_ChIP-Seq_MCF-7_Human0.93252728
84JARID2_20064375_ChIP-Seq_MESCs_Mouse0.93082014
85ETV2_25802403_ChIP-Seq_MESCs_Mouse0.92960252
86SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.92496098
87NCOR_22424771_ChIP-Seq_293T_Human0.91868980
88KLF5_20875108_ChIP-Seq_MESCs_Mouse0.91574561
89E2F1_18555785_ChIP-Seq_MESCs_Mouse0.91416141
90FOXA1_27270436_Chip-Seq_PROSTATE_Human0.90798262
91FOXA1_25329375_ChIP-Seq_VCAP_Human0.90798262
92ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.88768598
93* DCP1A_22483619_ChIP-Seq_HELA_Human0.88526746
94NANOG_16153702_ChIP-ChIP_HESCs_Human0.88246327
95SMAD4_21799915_ChIP-Seq_A2780_Human0.87468394
96BCAT_22108803_ChIP-Seq_LS180_Human0.87455879
97AR_20517297_ChIP-Seq_VCAP_Human0.87403143
98MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.86944074
99ELF1_17652178_ChIP-ChIP_JURKAT_Human0.86164056
100SMAD3_21741376_ChIP-Seq_EPCs_Human0.85974379

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode3.80603319
2MP0009379_abnormal_foot_pigmentation2.83792397
3MP0008877_abnormal_DNA_methylation2.83393273
4MP0003880_abnormal_central_pattern2.49213043
5MP0003787_abnormal_imprinting2.46720446
6MP0008789_abnormal_olfactory_epithelium2.26908199
7MP0002102_abnormal_ear_morphology2.07565811
8MP0006072_abnormal_retinal_apoptosis2.06132562
9MP0001529_abnormal_vocalization2.04668656
10MP0001968_abnormal_touch/_nociception1.95807722
11MP0003121_genomic_imprinting1.94305464
12MP0003122_maternal_imprinting1.85921818
13MP0005394_taste/olfaction_phenotype1.84331319
14MP0005499_abnormal_olfactory_system1.84331319
15MP0002638_abnormal_pupillary_reflex1.84174980
16MP0002736_abnormal_nociception_after1.81785886
17MP0006276_abnormal_autonomic_nervous1.81492120
18MP0003011_delayed_dark_adaptation1.80633669
19MP0005551_abnormal_eye_electrophysiolog1.79081628
20MP0002938_white_spotting1.78593131
21MP0001984_abnormal_olfaction1.77555173
22MP0004885_abnormal_endolymph1.74540680
23MP0002837_dystrophic_cardiac_calcinosis1.72733718
24MP0001188_hyperpigmentation1.68707190
25MP0008058_abnormal_DNA_repair1.65114778
26MP0003136_yellow_coat_color1.63940386
27MP0001293_anophthalmia1.62590848
28MP0002272_abnormal_nervous_system1.60411239
29MP0005646_abnormal_pituitary_gland1.58923301
30MP0002234_abnormal_pharynx_morphology1.58078717
31MP0004133_heterotaxia1.57086363
32MP0003890_abnormal_embryonic-extraembry1.56610261
33MP0004142_abnormal_muscle_tone1.56533957
34MP0009745_abnormal_behavioral_response1.55359884
35MP0000778_abnormal_nervous_system1.54556866
36MP0003718_maternal_effect1.54291443
37MP0003123_paternal_imprinting1.51119773
38MP0002163_abnormal_gland_morphology1.47818835
39MP0009046_muscle_twitch1.47573797
40MP0000372_irregular_coat_pigmentation1.47511425
41MP0000631_abnormal_neuroendocrine_gland1.46665722
42MP0001485_abnormal_pinna_reflex1.40582006
43MP0005253_abnormal_eye_physiology1.38834624
44MP0002160_abnormal_reproductive_system1.38466353
45MP0005645_abnormal_hypothalamus_physiol1.34812554
46MP0001486_abnormal_startle_reflex1.34607876
47MP0002653_abnormal_ependyma_morphology1.33926544
48MP0002822_catalepsy1.29701162
49MP0000049_abnormal_middle_ear1.28804872
50MP0002184_abnormal_innervation1.25290641
51MP0003567_abnormal_fetal_cardiomyocyte1.25043732
52MP0005084_abnormal_gallbladder_morpholo1.24862973
53MP0002734_abnormal_mechanical_nocicepti1.23935061
54MP0003635_abnormal_synaptic_transmissio1.21577359
55MP0005423_abnormal_somatic_nervous1.20010883
56MP0002572_abnormal_emotion/affect_behav1.19024961
57MP0002751_abnormal_autonomic_nervous1.18739980
58MP0002557_abnormal_social/conspecific_i1.18335131
59MP0004145_abnormal_muscle_electrophysio1.16774412
60MP0002752_abnormal_somatic_nervous1.16156178
61MP0001905_abnormal_dopamine_level1.15741566
62MP0003195_calcinosis1.13877147
63MP0003186_abnormal_redox_activity1.13619369
64MP0003693_abnormal_embryo_hatching1.12368373
65MP0008872_abnormal_physiological_respon1.08633749
66MP0005195_abnormal_posterior_eye1.08023094
67MP0002064_seizures1.07361676
68MP0000026_abnormal_inner_ear1.07062928
69MP0003938_abnormal_ear_development1.06764969
70MP0005389_reproductive_system_phenotype1.06278066
71MP0002063_abnormal_learning/memory/cond1.06106683
72MP0004147_increased_porphyrin_level1.05279491
73MP0002735_abnormal_chemical_nociception1.05278696
74MP0005379_endocrine/exocrine_gland_phen1.05236278
75MP0001970_abnormal_pain_threshold1.04536585
76MP0002733_abnormal_thermal_nociception1.02663296
77MP0003119_abnormal_digestive_system1.02308166
78MP0010030_abnormal_orbit_morphology1.02285002
79MP0002210_abnormal_sex_determination1.01301901
80MP0003937_abnormal_limbs/digits/tail_de1.00881020
81MP0002067_abnormal_sensory_capabilities0.96772898
82MP0002233_abnormal_nose_morphology0.96715056
83MP0002876_abnormal_thyroid_physiology0.92793693
84MP0001986_abnormal_taste_sensitivity0.90872877
85MP0001963_abnormal_hearing_physiology0.88966114
86MP0000566_synostosis0.88179444
87MP0006035_abnormal_mitochondrial_morpho0.87988656
88MP0001286_abnormal_eye_development0.87315765
89MP0000955_abnormal_spinal_cord0.86886366
90MP0002882_abnormal_neuron_morphology0.85728868
91MP0004742_abnormal_vestibular_system0.85281188
92MP0003646_muscle_fatigue0.84811386
93MP0008995_early_reproductive_senescence0.84752229
94MP0000653_abnormal_sex_gland0.84249396
95MP0005391_vision/eye_phenotype0.84166225
96MP0001919_abnormal_reproductive_system0.82598033
97MP0001929_abnormal_gametogenesis0.81867530
98MP0001145_abnormal_male_reproductive0.81508274
99MP0006036_abnormal_mitochondrial_physio0.80284608
100MP0002909_abnormal_adrenal_gland0.80088483

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.57509766
2Acute encephalopathy (HP:0006846)4.02661511
3Abnormal mitochondria in muscle tissue (HP:0008316)3.99643425
4Progressive macrocephaly (HP:0004481)3.96677808
5Mitochondrial inheritance (HP:0001427)3.91772359
6Increased CSF lactate (HP:0002490)3.62507748
7Increased hepatocellular lipid droplets (HP:0006565)3.53753433
8Pancreatic fibrosis (HP:0100732)3.49680499
9Abnormality of midbrain morphology (HP:0002418)3.37776188
10Molar tooth sign on MRI (HP:0002419)3.37776188
11Lipid accumulation in hepatocytes (HP:0006561)3.31909151
12Pancreatic cysts (HP:0001737)3.28792382
13True hermaphroditism (HP:0010459)3.22245738
14Hepatocellular necrosis (HP:0001404)3.19639391
153-Methylglutaconic aciduria (HP:0003535)3.03791967
16Medial flaring of the eyebrow (HP:0010747)2.97304983
17Hepatic necrosis (HP:0002605)2.95133249
18Nephronophthisis (HP:0000090)2.86034106
19Abnormal number of erythroid precursors (HP:0012131)2.84176532
20Cerebral edema (HP:0002181)2.82021684
21Abnormality of cells of the erythroid lineage (HP:0012130)2.81800359
22Colon cancer (HP:0003003)2.79832378
23Renal Fanconi syndrome (HP:0001994)2.74314649
24Septo-optic dysplasia (HP:0100842)2.74030903
25Abnormality of the labia minora (HP:0012880)2.70771555
26Reticulocytopenia (HP:0001896)2.60420486
27Congenital stationary night blindness (HP:0007642)2.59572903
28Gait imbalance (HP:0002141)2.57694678
29Hyperglycinemia (HP:0002154)2.53071775
30Optic disc pallor (HP:0000543)2.48061743
31Myokymia (HP:0002411)2.47001978
32Congenital primary aphakia (HP:0007707)2.46832002
33Sclerocornea (HP:0000647)2.45348459
34Pendular nystagmus (HP:0012043)2.36780165
35Limb dystonia (HP:0002451)2.34134822
36Nephrogenic diabetes insipidus (HP:0009806)2.33347363
37Increased serum lactate (HP:0002151)2.31902487
38Abnormality of the renal medulla (HP:0100957)2.29001882
39Increased intramyocellular lipid droplets (HP:0012240)2.27611202
40Type II lissencephaly (HP:0007260)2.23754503
41Macrocytic anemia (HP:0001972)2.23124069
42Lactic acidosis (HP:0003128)2.19752917
43Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.18180071
44Genital tract atresia (HP:0001827)2.16581357
45Methylmalonic acidemia (HP:0002912)2.14634458
46Optic nerve hypoplasia (HP:0000609)2.11606213
47Vaginal atresia (HP:0000148)2.09403861
48Congenital, generalized hypertrichosis (HP:0004540)2.09277534
49Leukodystrophy (HP:0002415)2.08981870
50Decreased activity of mitochondrial respiratory chain (HP:0008972)2.07507047
51Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.07507047
52Respiratory failure (HP:0002878)2.07087092
53Abnormal rod and cone electroretinograms (HP:0008323)2.05410456
54Exertional dyspnea (HP:0002875)2.05223210
55Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.03958896
56Anencephaly (HP:0002323)2.02539500
57Male pseudohermaphroditism (HP:0000037)2.00659269
58Aplasia/Hypoplasia of the tongue (HP:0010295)1.99047408
59Methylmalonic aciduria (HP:0012120)1.95386370
60Supernumerary spleens (HP:0009799)1.92855446
61Intestinal atresia (HP:0011100)1.92405507
62Cystic liver disease (HP:0006706)1.92338363
63Abnormality of renal resorption (HP:0011038)1.91560431
64Hypothermia (HP:0002045)1.90798862
65Absent septum pellucidum (HP:0001331)1.90221636
66Abolished electroretinogram (ERG) (HP:0000550)1.87800167
67Retinal dysplasia (HP:0007973)1.86334971
68Lethargy (HP:0001254)1.85031131
69Exercise intolerance (HP:0003546)1.84316323
70Abnormality of the renal cortex (HP:0011035)1.82832821
71Anophthalmia (HP:0000528)1.81851043
72Abnormal respiratory motile cilium morphology (HP:0005938)1.81744031
73Abnormal respiratory epithelium morphology (HP:0012253)1.81744031
74Increased muscle lipid content (HP:0009058)1.81493533
75Short tibia (HP:0005736)1.80133601
76Focal motor seizures (HP:0011153)1.80116178
77Abnormality of urine glucose concentration (HP:0011016)1.79546595
78Glycosuria (HP:0003076)1.79546595
79Hyperglycinuria (HP:0003108)1.79300869
80Postaxial foot polydactyly (HP:0001830)1.76375463
81Aplasia/Hypoplasia of the tibia (HP:0005772)1.76210982
82Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.74197491
83Poor suck (HP:0002033)1.72249198
84Postaxial hand polydactyly (HP:0001162)1.71617435
85Abnormality of serine family amino acid metabolism (HP:0010894)1.70964693
86Abnormality of glycine metabolism (HP:0010895)1.70964693
87Chronic hepatic failure (HP:0100626)1.70233363
88Absent rod-and cone-mediated responses on ERG (HP:0007688)1.70021795
89Absent/shortened dynein arms (HP:0200106)1.68981578
90Dynein arm defect of respiratory motile cilia (HP:0012255)1.68981578
91X-linked dominant inheritance (HP:0001423)1.68960337
92Abnormal ciliary motility (HP:0012262)1.67041086
93Poor coordination (HP:0002370)1.66397665
94Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.66181611
95Abnormality of alanine metabolism (HP:0010916)1.66181611
96Hyperalaninemia (HP:0003348)1.66181611
97Abnormal biliary tract physiology (HP:0012439)1.66106411
98Bile duct proliferation (HP:0001408)1.66106411
99Respiratory difficulties (HP:0002880)1.64812521
100Lissencephaly (HP:0001339)1.64771739

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K123.19929806
2STK162.80736385
3WNK32.75847373
4VRK22.69303994
5CASK2.64779052
6BMPR1B2.47191028
7DYRK22.36313063
8ZAK2.12129567
9FRK2.06462878
10ADRBK22.02926652
11MAP4K22.01322018
12MAP3K41.83800174
13TRIM281.83312919
14VRK11.78587714
15CDC71.78586415
16TAF11.75652808
17PINK11.73038451
18GRK11.68547631
19TNIK1.64213179
20NUAK11.61472655
21MAPK131.56798124
22MARK11.52975620
23MAP2K71.52105967
24NME11.45365767
25WNK41.42853344
26BUB11.40838821
27PLK31.36828490
28MKNK21.36704537
29TLK11.35987523
30BCKDK1.33936272
31SRPK11.33175232
32EPHA41.31700971
33DYRK31.31530339
34MAP2K41.28662414
35CDK191.24568605
36CSNK1G11.20820997
37CSNK1G21.17299939
38CSNK1G31.14058163
39PRKCG1.11960881
40MAP3K111.09849418
41MKNK11.09521160
42TIE11.04079927
43INSRR1.03879907
44OXSR11.02013779
45NEK10.99228497
46PAK30.98336369
47MINK10.97860841
48BCR0.94360481
49STK390.94108830
50PBK0.93047180
51PLK20.88789010
52PLK10.87674136
53NTRK20.87010718
54CSNK1A1L0.86055318
55ACVR1B0.85409651
56PLK40.84693182
57BRSK20.77315723
58EPHB20.77253457
59WEE10.75086223
60PNCK0.74961679
61PRKCI0.74919333
62TSSK60.72996715
63TAOK30.71136295
64PRKCE0.69315498
65NTRK30.68344073
66PHKG10.67253644
67PHKG20.67253644
68MUSK0.64681798
69TGFBR10.64308240
70PASK0.59058990
71ATR0.58012493
72CAMK2A0.55388496
73CSNK1E0.54920535
74RPS6KA50.54088581
75MARK30.51804068
76CHEK20.51797576
77CSNK2A20.51570750
78BRSK10.51068872
79FGFR20.50945178
80EIF2AK30.50339065
81CSNK1A10.50164053
82ADRBK10.49864567
83OBSCN0.49534753
84ERBB30.48629197
85TTK0.48000806
86PRKACA0.47569851
87DAPK20.46467263
88CSNK2A10.45330329
89DYRK1A0.45176888
90CAMKK20.45020499
91LIMK10.44569725
92AURKA0.44314891
93MST40.43188426
94STK110.41855369
95NME20.40942504
96AURKB0.40666006
97BRAF0.40109865
98MAPKAPK50.37343700
99AKT30.37020551
100PIK3CA0.36849417

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.50063824
2Ribosome_Homo sapiens_hsa030104.09285074
3Parkinsons disease_Homo sapiens_hsa050123.85063048
4Protein export_Homo sapiens_hsa030603.10960681
5RNA polymerase_Homo sapiens_hsa030202.88467307
6Huntingtons disease_Homo sapiens_hsa050162.70746933
7Proteasome_Homo sapiens_hsa030502.61412132
8Alzheimers disease_Homo sapiens_hsa050102.57627932
9Cardiac muscle contraction_Homo sapiens_hsa042602.38780765
10Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.14487395
11Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.10217088
12Homologous recombination_Homo sapiens_hsa034401.96505321
13Phototransduction_Homo sapiens_hsa047441.94458342
14Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.83604951
15Basal transcription factors_Homo sapiens_hsa030221.80069477
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.76886529
17Nicotine addiction_Homo sapiens_hsa050331.71934197
18RNA degradation_Homo sapiens_hsa030181.63538095
19Mismatch repair_Homo sapiens_hsa034301.55056023
20Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.52620987
21Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.45098386
22Fanconi anemia pathway_Homo sapiens_hsa034601.42738631
23Butanoate metabolism_Homo sapiens_hsa006501.34605190
24Pyrimidine metabolism_Homo sapiens_hsa002401.32061673
25Spliceosome_Homo sapiens_hsa030401.31180460
26Propanoate metabolism_Homo sapiens_hsa006401.24022994
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.23615215
28Maturity onset diabetes of the young_Homo sapiens_hsa049501.21694600
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.21537521
30Base excision repair_Homo sapiens_hsa034101.16755264
31DNA replication_Homo sapiens_hsa030301.15370474
32Purine metabolism_Homo sapiens_hsa002301.12083246
33Fatty acid elongation_Homo sapiens_hsa000621.11314107
34One carbon pool by folate_Homo sapiens_hsa006701.10633448
35Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.10520627
36Nitrogen metabolism_Homo sapiens_hsa009101.10181052
37RNA transport_Homo sapiens_hsa030131.09325661
38Selenocompound metabolism_Homo sapiens_hsa004501.08337266
39Nucleotide excision repair_Homo sapiens_hsa034201.03955611
40Steroid biosynthesis_Homo sapiens_hsa001001.03321835
41Peroxisome_Homo sapiens_hsa041461.00887439
42Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.98625504
43Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97277167
44Linoleic acid metabolism_Homo sapiens_hsa005910.93028044
45Olfactory transduction_Homo sapiens_hsa047400.92488227
46Cysteine and methionine metabolism_Homo sapiens_hsa002700.92072556
47Folate biosynthesis_Homo sapiens_hsa007900.91908163
48alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.90975453
49Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.90729495
50Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.89692849
51Collecting duct acid secretion_Homo sapiens_hsa049660.87712361
52Tryptophan metabolism_Homo sapiens_hsa003800.87241734
53Regulation of autophagy_Homo sapiens_hsa041400.86179907
54Morphine addiction_Homo sapiens_hsa050320.85221370
55GABAergic synapse_Homo sapiens_hsa047270.84533865
56Sulfur relay system_Homo sapiens_hsa041220.83943545
57Non-homologous end-joining_Homo sapiens_hsa034500.83733132
58Metabolic pathways_Homo sapiens_hsa011000.82163428
59Taste transduction_Homo sapiens_hsa047420.78115917
60Pyruvate metabolism_Homo sapiens_hsa006200.72009743
61Serotonergic synapse_Homo sapiens_hsa047260.68723278
62Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.68140093
63Caffeine metabolism_Homo sapiens_hsa002320.61899981
64Ether lipid metabolism_Homo sapiens_hsa005650.56967900
65Glutathione metabolism_Homo sapiens_hsa004800.56066011
66Insulin secretion_Homo sapiens_hsa049110.55944692
67Hedgehog signaling pathway_Homo sapiens_hsa043400.54407100
68Dopaminergic synapse_Homo sapiens_hsa047280.54272716
69Circadian entrainment_Homo sapiens_hsa047130.53406847
70Glutamatergic synapse_Homo sapiens_hsa047240.53179543
71Chemical carcinogenesis_Homo sapiens_hsa052040.51979594
72Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51515845
73Primary bile acid biosynthesis_Homo sapiens_hsa001200.50735029
74Basal cell carcinoma_Homo sapiens_hsa052170.50619834
75Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.49641988
76Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.48577731
77Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.47984301
78Retinol metabolism_Homo sapiens_hsa008300.47104674
79Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.45365546
80Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.45342707
81Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.45098760
82Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.44965790
83Oocyte meiosis_Homo sapiens_hsa041140.44471331
84Fatty acid degradation_Homo sapiens_hsa000710.43427110
85Synaptic vesicle cycle_Homo sapiens_hsa047210.42947578
86Arginine and proline metabolism_Homo sapiens_hsa003300.42359996
87Fatty acid metabolism_Homo sapiens_hsa012120.41903345
88Cell cycle_Homo sapiens_hsa041100.39721635
89beta-Alanine metabolism_Homo sapiens_hsa004100.39097788
90Pentose and glucuronate interconversions_Homo sapiens_hsa000400.38219402
91Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.35893085
92Sulfur metabolism_Homo sapiens_hsa009200.34941819
93Arachidonic acid metabolism_Homo sapiens_hsa005900.34398215
94Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.32285323
95Cocaine addiction_Homo sapiens_hsa050300.31053946
96Tyrosine metabolism_Homo sapiens_hsa003500.30937004
97Steroid hormone biosynthesis_Homo sapiens_hsa001400.30772724
98Fat digestion and absorption_Homo sapiens_hsa049750.30599754
99Vitamin B6 metabolism_Homo sapiens_hsa007500.28539359
100Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.28313551

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