SERF1A

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. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it 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. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.79506830
2ATP synthesis coupled proton transport (GO:0015986)5.25109184
3energy coupled proton transport, down electrochemical gradient (GO:0015985)5.25109184
4chaperone-mediated protein transport (GO:0072321)4.65161756
5behavioral response to nicotine (GO:0035095)4.62191407
6mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.58744048
7establishment of protein localization to mitochondrial membrane (GO:0090151)4.50776558
8protein complex biogenesis (GO:0070271)4.43066966
9mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.23663218
10mitochondrial respiratory chain complex I assembly (GO:0032981)4.23663218
11NADH dehydrogenase complex assembly (GO:0010257)4.23663218
12mitochondrial respiratory chain complex assembly (GO:0033108)4.18290695
13respiratory electron transport chain (GO:0022904)4.11353828
14electron transport chain (GO:0022900)4.08854980
15protein neddylation (GO:0045116)3.78640917
16respiratory chain complex IV assembly (GO:0008535)3.76476981
17water-soluble vitamin biosynthetic process (GO:0042364)3.64968578
18ribosomal small subunit assembly (GO:0000028)3.53466668
19response to pheromone (GO:0019236)3.51253441
20cytochrome complex assembly (GO:0017004)3.44389665
21protein-cofactor linkage (GO:0018065)3.35889600
22translational termination (GO:0006415)3.34946939
23viral transcription (GO:0019083)3.34535720
24termination of RNA polymerase III transcription (GO:0006386)3.32662200
25transcription elongation from RNA polymerase III promoter (GO:0006385)3.32662200
26nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.30188417
27exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.25576366
28cullin deneddylation (GO:0010388)3.15740378
29cotranslational protein targeting to membrane (GO:0006613)3.13190387
30SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.12715324
31hydrogen ion transmembrane transport (GO:1902600)3.08511684
32proteasome assembly (GO:0043248)3.05764348
33protein targeting to ER (GO:0045047)3.05273482
34platelet dense granule organization (GO:0060155)3.04941538
35nonmotile primary cilium assembly (GO:0035058)3.04860532
36ATP biosynthetic process (GO:0006754)3.04382792
37intracellular protein transmembrane import (GO:0044743)3.02567488
38tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.99805509
39RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.99805509
40pseudouridine synthesis (GO:0001522)2.98064256
41protein K6-linked ubiquitination (GO:0085020)2.96190888
42establishment of protein localization to endoplasmic reticulum (GO:0072599)2.93662613
43regulation of mitochondrial translation (GO:0070129)2.92440074
44maturation of SSU-rRNA (GO:0030490)2.91917174
45purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.91704605
46protein deneddylation (GO:0000338)2.91495300
47purine nucleoside triphosphate biosynthetic process (GO:0009145)2.90569534
48DNA damage response, detection of DNA damage (GO:0042769)2.89102840
49proton transport (GO:0015992)2.88197969
50protein localization to endoplasmic reticulum (GO:0070972)2.87470797
51translational elongation (GO:0006414)2.84555867
52epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.83136692
53hydrogen transport (GO:0006818)2.82638602
54negative regulation of telomere maintenance (GO:0032205)2.81561446
55intraciliary transport (GO:0042073)2.80287363
56ribosomal small subunit biogenesis (GO:0042274)2.75005019
57epithelial cilium movement (GO:0003351)2.74028061
58regulation of mitotic spindle checkpoint (GO:1903504)2.71877493
59regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.71877493
60peptidyl-histidine modification (GO:0018202)2.69237403
61pyrimidine nucleobase catabolic process (GO:0006208)2.69023199
62DNA double-strand break processing (GO:0000729)2.67882587
63DNA deamination (GO:0045006)2.66949654
64translation (GO:0006412)2.63305754
65detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.63296584
66chromatin remodeling at centromere (GO:0031055)2.62287280
67protein targeting to mitochondrion (GO:0006626)2.60934507
68preassembly of GPI anchor in ER membrane (GO:0016254)2.60606784
69establishment of protein localization to mitochondrion (GO:0072655)2.56478332
70tRNA processing (GO:0008033)2.55567787
71L-fucose catabolic process (GO:0042355)2.54875950
72fucose catabolic process (GO:0019317)2.54875950
73L-fucose metabolic process (GO:0042354)2.54875950
74regulation of cilium movement (GO:0003352)2.53649754
75negative regulation of transcription regulatory region DNA binding (GO:2000678)2.52127953
76protein localization to mitochondrion (GO:0070585)2.51614938
77GTP biosynthetic process (GO:0006183)2.51557013
78sequestering of actin monomers (GO:0042989)2.50559543
79ribonucleoside triphosphate biosynthetic process (GO:0009201)2.50449291
80cellular protein complex disassembly (GO:0043624)2.50323544
81replication fork processing (GO:0031297)2.49668602
82ribosomal large subunit biogenesis (GO:0042273)2.47895302
83protein polyglutamylation (GO:0018095)2.47239946
84L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.47095622
85cellular component biogenesis (GO:0044085)2.45220865
86cellular ketone body metabolic process (GO:0046950)2.44775493
87retinal cone cell development (GO:0046549)2.44124737
88viral life cycle (GO:0019058)2.41300201
89cilium morphogenesis (GO:0060271)2.41089144
90ubiquinone biosynthetic process (GO:0006744)2.40741102
91protein localization to cilium (GO:0061512)2.39618914
92CENP-A containing nucleosome assembly (GO:0034080)2.38641073
93translational initiation (GO:0006413)2.38330997
94mannosylation (GO:0097502)2.37840370
95ubiquinone metabolic process (GO:0006743)2.37191178
96spliceosomal snRNP assembly (GO:0000387)2.33678791
97kidney morphogenesis (GO:0060993)2.33128496
98organelle disassembly (GO:1903008)2.33059829
99base-excision repair, AP site formation (GO:0006285)2.32974251
100regulation of meiosis I (GO:0060631)2.31167920

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.41129900
2GABP_17652178_ChIP-ChIP_JURKAT_Human3.39703403
3ZNF274_21170338_ChIP-Seq_K562_Hela3.20002522
4HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.09785822
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.04469125
6EZH2_22144423_ChIP-Seq_EOC_Human2.93458499
7VDR_22108803_ChIP-Seq_LS180_Human2.64324310
8MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.46993458
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.38887853
10FUS_26573619_Chip-Seq_HEK293_Human2.27874007
11GBX2_23144817_ChIP-Seq_PC3_Human2.23951967
12EWS_26573619_Chip-Seq_HEK293_Human2.13961416
13ETS1_20019798_ChIP-Seq_JURKAT_Human2.12765456
14HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.10911716
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.10754592
16NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.06339150
17JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.04788979
18IGF1R_20145208_ChIP-Seq_DFB_Human2.04462853
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.00460840
20ELK1_19687146_ChIP-ChIP_HELA_Human1.97972644
21TAF15_26573619_Chip-Seq_HEK293_Human1.95214514
22POU3F2_20337985_ChIP-ChIP_501MEL_Human1.94979880
23FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.94091387
24CTBP1_25329375_ChIP-Seq_LNCAP_Human1.86110009
25* MYC_18940864_ChIP-ChIP_HL60_Human1.83931155
26VDR_23849224_ChIP-Seq_CD4+_Human1.83790905
27CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.82697617
28FLI1_27457419_Chip-Seq_LIVER_Mouse1.77533602
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.74006334
30P300_19829295_ChIP-Seq_ESCs_Human1.71265679
31GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66725346
32CREB1_15753290_ChIP-ChIP_HEK293T_Human1.65759516
33BMI1_23680149_ChIP-Seq_NPCS_Mouse1.65178052
34NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.59602434
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.59441059
36EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.57088263
37IRF1_19129219_ChIP-ChIP_H3396_Human1.55825919
38TP53_22573176_ChIP-Seq_HFKS_Human1.55313180
39MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.54591421
40RNF2_27304074_Chip-Seq_NSC_Mouse1.45798662
41SRF_21415370_ChIP-Seq_HL-1_Mouse1.45657620
42FOXP3_21729870_ChIP-Seq_TREG_Human1.42843972
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.42600144
44PCGF2_27294783_Chip-Seq_ESCs_Mouse1.42066444
45PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.41570254
46POU5F1_16153702_ChIP-ChIP_HESCs_Human1.40867421
47NOTCH1_21737748_ChIP-Seq_TLL_Human1.37933299
48ER_23166858_ChIP-Seq_MCF-7_Human1.37387671
49SALL1_21062744_ChIP-ChIP_HESCs_Human1.31503734
50GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.25597090
51REST_21632747_ChIP-Seq_MESCs_Mouse1.24575760
52UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.23978296
53CBP_20019798_ChIP-Seq_JUKART_Human1.22380356
54IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.22380356
55NANOG_19829295_ChIP-Seq_ESCs_Human1.15598540
56SOX2_19829295_ChIP-Seq_ESCs_Human1.15598540
57TOP2B_26459242_ChIP-Seq_MCF-7_Human1.13395077
58TTF2_22483619_ChIP-Seq_HELA_Human1.11541910
59CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.11225201
60AR_25329375_ChIP-Seq_VCAP_Human1.10875459
61BCAT_22108803_ChIP-Seq_LS180_Human1.09685351
62SOX2_16153702_ChIP-ChIP_HESCs_Human1.09085988
63FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.09069882
64MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.08928619
65EZH2_27304074_Chip-Seq_ESCs_Mouse1.08313869
66MYC_18555785_ChIP-Seq_MESCs_Mouse1.08247936
67FOXA1_27270436_Chip-Seq_PROSTATE_Human1.08076151
68FOXA1_25329375_ChIP-Seq_VCAP_Human1.08076151
69AR_20517297_ChIP-Seq_VCAP_Human1.08017491
70FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.06887343
71* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.06305590
72KLF5_20875108_ChIP-Seq_MESCs_Mouse1.03078164
73SMAD4_21799915_ChIP-Seq_A2780_Human1.02376714
74AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.01836617
75PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01738996
76SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.01246521
77PCGF2_27294783_Chip-Seq_NPCs_Mouse1.01001862
78EZH2_27294783_Chip-Seq_NPCs_Mouse1.00924990
79SUZ12_27294783_Chip-Seq_NPCs_Mouse1.00847369
80NCOR_22424771_ChIP-Seq_293T_Human1.00658752
81E2F4_17652178_ChIP-ChIP_JURKAT_Human1.00239514
82SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99588000
83SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.99121918
84PIAS1_25552417_ChIP-Seq_VCAP_Human0.99098982
85POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.98827763
86TCF4_22108803_ChIP-Seq_LS180_Human0.98714193
87NFE2_27457419_Chip-Seq_LIVER_Mouse0.98375198
88YY1_21170310_ChIP-Seq_MESCs_Mouse0.98266204
89ETV2_25802403_ChIP-Seq_MESCs_Mouse0.98247427
90THAP11_20581084_ChIP-Seq_MESCs_Mouse0.97248109
91SMAD3_21741376_ChIP-Seq_EPCs_Human0.96417515
92POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95972483
93TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95972483
94EED_16625203_ChIP-ChIP_MESCs_Mouse0.95952007
95GATA3_21878914_ChIP-Seq_MCF-7_Human0.95810857
96PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.94816282
97REST_18959480_ChIP-ChIP_MESCs_Mouse0.93803394
98TCF4_23295773_ChIP-Seq_U87_Human0.93728814
99TP63_19390658_ChIP-ChIP_HaCaT_Human0.93091642
100RUNX2_22187159_ChIP-Seq_PCA_Human0.92877552

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode3.14424888
2MP0008877_abnormal_DNA_methylation2.71117925
3MP0002102_abnormal_ear_morphology2.38394025
4MP0003880_abnormal_central_pattern2.35010899
5MP0003787_abnormal_imprinting2.23119014
6MP0006072_abnormal_retinal_apoptosis2.19079145
7MP0005551_abnormal_eye_electrophysiolog2.08810172
8MP0002837_dystrophic_cardiac_calcinosis2.00047768
9MP0001968_abnormal_touch/_nociception1.99124525
10MP0009379_abnormal_foot_pigmentation1.97512592
11MP0003011_delayed_dark_adaptation1.96196486
12MP0002638_abnormal_pupillary_reflex1.95207686
13MP0002938_white_spotting1.92903125
14MP0001529_abnormal_vocalization1.92621368
15MP0004142_abnormal_muscle_tone1.91760591
16MP0002653_abnormal_ependyma_morphology1.88277860
17MP0006276_abnormal_autonomic_nervous1.84974926
18MP0005646_abnormal_pituitary_gland1.82364400
19MP0002736_abnormal_nociception_after1.82172045
20MP0009745_abnormal_behavioral_response1.75966050
21MP0008058_abnormal_DNA_repair1.71523002
22MP0003195_calcinosis1.70149881
23MP0009046_muscle_twitch1.69301827
24MP0002272_abnormal_nervous_system1.68971014
25MP0003122_maternal_imprinting1.66780014
26MP0003136_yellow_coat_color1.66310775
27MP0005253_abnormal_eye_physiology1.65923683
28MP0003121_genomic_imprinting1.63731464
29MP0004133_heterotaxia1.62008924
30MP0000631_abnormal_neuroendocrine_gland1.60333642
31MP0000372_irregular_coat_pigmentation1.59258341
32MP0008789_abnormal_olfactory_epithelium1.58658222
33MP0001984_abnormal_olfaction1.58445552
34MP0003718_maternal_effect1.50725683
35MP0002234_abnormal_pharynx_morphology1.49712286
36MP0001485_abnormal_pinna_reflex1.45573773
37MP0005645_abnormal_hypothalamus_physiol1.44468258
38MP0001188_hyperpigmentation1.43890716
39MP0004885_abnormal_endolymph1.42862121
40MP0005084_abnormal_gallbladder_morpholo1.42137093
41MP0005423_abnormal_somatic_nervous1.35356490
42MP0000778_abnormal_nervous_system1.35104657
43MP0001293_anophthalmia1.34835265
44MP0004147_increased_porphyrin_level1.32149351
45MP0008872_abnormal_physiological_respon1.31175579
46MP0001486_abnormal_startle_reflex1.31067590
47MP0002163_abnormal_gland_morphology1.29462855
48MP0001905_abnormal_dopamine_level1.28587406
49MP0001986_abnormal_taste_sensitivity1.27408866
50MP0002572_abnormal_emotion/affect_behav1.25397727
51MP0002557_abnormal_social/conspecific_i1.24834071
52MP0005499_abnormal_olfactory_system1.24495298
53MP0005394_taste/olfaction_phenotype1.24495298
54MP0002735_abnormal_chemical_nociception1.24121193
55MP0002160_abnormal_reproductive_system1.23182916
56MP0002734_abnormal_mechanical_nocicepti1.20083808
57MP0002064_seizures1.19434098
58MP0002876_abnormal_thyroid_physiology1.18535657
59MP0002751_abnormal_autonomic_nervous1.17296000
60MP0000049_abnormal_middle_ear1.16479218
61MP0003890_abnormal_embryonic-extraembry1.16212207
62MP0004145_abnormal_muscle_electrophysio1.13829813
63MP0005379_endocrine/exocrine_gland_phen1.13092850
64MP0003635_abnormal_synaptic_transmissio1.12599192
65MP0002184_abnormal_innervation1.11995160
66MP0002822_catalepsy1.10266972
67MP0005195_abnormal_posterior_eye1.09831293
68MP0002752_abnormal_somatic_nervous1.08394371
69MP0003186_abnormal_redox_activity1.08373480
70MP0001970_abnormal_pain_threshold1.07789808
71MP0008875_abnormal_xenobiotic_pharmacok1.05957796
72MP0006036_abnormal_mitochondrial_physio1.05494218
73MP0005389_reproductive_system_phenotype1.04611789
74MP0004043_abnormal_pH_regulation1.04303697
75MP0003567_abnormal_fetal_cardiomyocyte1.04187754
76MP0002063_abnormal_learning/memory/cond1.03436537
77MP0003119_abnormal_digestive_system1.03267628
78MP0002733_abnormal_thermal_nociception1.01470114
79MP0004742_abnormal_vestibular_system0.99063419
80MP0010386_abnormal_urinary_bladder0.98852421
81MP0002067_abnormal_sensory_capabilities0.98815137
82MP0008995_early_reproductive_senescence0.96272298
83MP0003937_abnormal_limbs/digits/tail_de0.94396916
84MP0000026_abnormal_inner_ear0.94311354
85MP0002210_abnormal_sex_determination0.94198645
86MP0003283_abnormal_digestive_organ0.94090004
87MP0002277_abnormal_respiratory_mucosa0.92147808
88MP0001919_abnormal_reproductive_system0.90725767
89MP0001764_abnormal_homeostasis0.88920839
90MP0003137_abnormal_impulse_conducting0.87655712
91MP0003123_paternal_imprinting0.87231401
92MP0000569_abnormal_digit_pigmentation0.86312903
93MP0005391_vision/eye_phenotype0.85944369
94MP0003938_abnormal_ear_development0.85765137
95MP0005386_behavior/neurological_phenoty0.84777792
96MP0004924_abnormal_behavior0.84777792
97MP0002928_abnormal_bile_duct0.82312322
98MP0000955_abnormal_spinal_cord0.82095444
99MP0001929_abnormal_gametogenesis0.80975408
100MP0004215_abnormal_myocardial_fiber0.80146961

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.18898190
2Pancreatic cysts (HP:0001737)3.78478052
3Abnormality of midbrain morphology (HP:0002418)3.73956879
4Molar tooth sign on MRI (HP:0002419)3.73956879
5Mitochondrial inheritance (HP:0001427)3.72587547
6Abnormal mitochondria in muscle tissue (HP:0008316)3.64593288
7Acute encephalopathy (HP:0006846)3.64366996
8Pancreatic fibrosis (HP:0100732)3.63407442
9Progressive macrocephaly (HP:0004481)3.61362155
10True hermaphroditism (HP:0010459)3.51403765
11Increased CSF lactate (HP:0002490)3.42442085
123-Methylglutaconic aciduria (HP:0003535)3.38098507
13Increased hepatocellular lipid droplets (HP:0006565)3.25447423
14Nephronophthisis (HP:0000090)3.15245733
15Hepatocellular necrosis (HP:0001404)3.13007202
16Medial flaring of the eyebrow (HP:0010747)3.07336918
17Hepatic necrosis (HP:0002605)3.03509889
18Lipid accumulation in hepatocytes (HP:0006561)3.03211237
19Congenital stationary night blindness (HP:0007642)2.96404315
20Abnormality of the labia minora (HP:0012880)2.82058057
21Abnormal number of erythroid precursors (HP:0012131)2.73728482
22Abnormality of the renal medulla (HP:0100957)2.60795772
23Gait imbalance (HP:0002141)2.60415276
24Abnormality of cells of the erythroid lineage (HP:0012130)2.58923297
25Renal Fanconi syndrome (HP:0001994)2.57388655
26Cerebral edema (HP:0002181)2.56103663
27Congenital primary aphakia (HP:0007707)2.50356572
28Abnormality of the renal cortex (HP:0011035)2.48473632
29Optic disc pallor (HP:0000543)2.41255125
30Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.37779632
31Decreased activity of mitochondrial respiratory chain (HP:0008972)2.37779632
32Nephrogenic diabetes insipidus (HP:0009806)2.37131589
33Renal cortical cysts (HP:0000803)2.33083266
34Increased serum lactate (HP:0002151)2.32813130
35Colon cancer (HP:0003003)2.30880377
36Sclerocornea (HP:0000647)2.30854398
37Congenital, generalized hypertrichosis (HP:0004540)2.29986296
38Pendular nystagmus (HP:0012043)2.29948296
39Methylmalonic acidemia (HP:0002912)2.25086891
40Type II lissencephaly (HP:0007260)2.24575809
41Cystic liver disease (HP:0006706)2.22219917
42Reticulocytopenia (HP:0001896)2.21212530
43Lactic acidosis (HP:0003128)2.19883103
44Genital tract atresia (HP:0001827)2.12193913
45Chronic hepatic failure (HP:0100626)2.12023174
46Abolished electroretinogram (ERG) (HP:0000550)2.10837596
47Hyperglycinemia (HP:0002154)2.08933009
48Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.08692674
49Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.07725239
50Abnormality of alanine metabolism (HP:0010916)2.07725239
51Hyperalaninemia (HP:0003348)2.07725239
52Macrocytic anemia (HP:0001972)2.07406192
53Hypothermia (HP:0002045)2.07264750
54Anencephaly (HP:0002323)2.06916126
55Vaginal atresia (HP:0000148)2.05526376
56Septo-optic dysplasia (HP:0100842)2.03352804
57Intestinal atresia (HP:0011100)2.02648051
58Optic nerve hypoplasia (HP:0000609)2.02267077
59Methylmalonic aciduria (HP:0012120)2.00964251
60Aplasia/Hypoplasia of the tongue (HP:0010295)1.99997664
61Respiratory failure (HP:0002878)1.99952688
62Male pseudohermaphroditism (HP:0000037)1.98218320
63Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.97867329
64Increased intramyocellular lipid droplets (HP:0012240)1.95296949
65Abnormal rod and cone electroretinograms (HP:0008323)1.94607503
66Abnormality of urine glucose concentration (HP:0011016)1.90842603
67Glycosuria (HP:0003076)1.90842603
68Myokymia (HP:0002411)1.90081868
69Exertional dyspnea (HP:0002875)1.89896375
70Limb dystonia (HP:0002451)1.88087303
71Large for gestational age (HP:0001520)1.87730581
72Aplasia/Hypoplasia of the tibia (HP:0005772)1.87441525
73Lethargy (HP:0001254)1.84365708
74Abnormality of renal resorption (HP:0011038)1.84202035
75Postaxial foot polydactyly (HP:0001830)1.83301133
76Leukodystrophy (HP:0002415)1.83143119
77Postaxial hand polydactyly (HP:0001162)1.83137751
78Congenital hepatic fibrosis (HP:0002612)1.81399136
79Supernumerary spleens (HP:0009799)1.80442389
80Retinal dysplasia (HP:0007973)1.80440071
81Rib fusion (HP:0000902)1.77407153
82Short tibia (HP:0005736)1.77354135
83Tubular atrophy (HP:0000092)1.75037139
84Abnormal biliary tract physiology (HP:0012439)1.74028607
85Bile duct proliferation (HP:0001408)1.74028607
86Inability to walk (HP:0002540)1.73776733
87Polydipsia (HP:0001959)1.73599447
88Abnormal drinking behavior (HP:0030082)1.73599447
89Concave nail (HP:0001598)1.72949522
90Type I transferrin isoform profile (HP:0003642)1.72204320
91Lissencephaly (HP:0001339)1.70952893
92Attenuation of retinal blood vessels (HP:0007843)1.70261652
93Poor coordination (HP:0002370)1.69486754
94Occipital encephalocele (HP:0002085)1.69275921
95Focal motor seizures (HP:0011153)1.68875551
96Pachygyria (HP:0001302)1.68452091
97Preaxial hand polydactyly (HP:0001177)1.68192531
98Oligodactyly (hands) (HP:0001180)1.67310683
99Furrowed tongue (HP:0000221)1.65923764
100Absent thumb (HP:0009777)1.65258857

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK3.04296847
2BMPR1B3.02969535
3WNK32.73434788
4MAP4K22.58820860
5ZAK2.53538091
6STK162.49737146
7CASK2.39613970
8ADRBK22.28046247
9VRK22.15040340
10PINK12.03454878
11TLK12.01740342
12NUAK11.97869895
13MAP3K41.92691312
14DYRK21.90306812
15GRK11.86151783
16TRIM281.78012365
17VRK11.69663014
18WNK41.61396880
19MAPK131.58935820
20SRPK11.51445236
21BUB11.46870489
22BCKDK1.46647926
23INSRR1.44725024
24NME11.44628489
25MARK11.39162783
26MKNK21.36420469
27MAP2K71.33143468
28TNIK1.26190176
29CDC71.24853304
30OXSR11.24270871
31TAF11.20995425
32PLK31.19794847
33BCR1.17801081
34TAOK31.15543269
35DYRK31.14862875
36CSNK1G21.14354797
37PAK31.13938800
38STK391.11825379
39CSNK1G31.10978629
40PRKCG1.09691355
41PNCK1.08377671
42CSNK1G11.08063232
43MKNK11.08060898
44BRSK21.06316561
45AKT31.03049111
46TIE11.01631507
47CDK191.01138537
48TGFBR10.99167631
49PLK20.97839969
50WEE10.96267565
51PHKG20.96216345
52PHKG10.96216345
53ACVR1B0.96156970
54PLK40.93289258
55PRKCE0.82936496
56EPHA40.82477912
57MUSK0.82239035
58MST40.80805853
59PLK10.80710635
60CSNK1A1L0.80477789
61FGFR20.76095141
62DAPK20.74779346
63ERBB30.70619216
64MINK10.70027914
65ADRBK10.65947473
66EIF2AK30.65744959
67RPS6KA50.64134539
68CDK80.63468577
69PASK0.62207985
70NTRK20.59305493
71NEK10.56374414
72LIMK10.56338708
73CAMK2A0.54972957
74PIK3CA0.54956155
75OBSCN0.54592585
76STK38L0.54259275
77CCNB10.53596125
78MAPK150.52878162
79PRKCI0.52180336
80CSNK1A10.51820802
81ATR0.51718684
82CAMKK20.49501711
83CHEK20.48362413
84PRKACA0.48145938
85CSNK1E0.45110615
86PKN10.44364433
87PDK20.44105597
88TSSK60.43980498
89CSNK2A10.42871729
90CSNK2A20.42315952
91NTRK30.41580771
92STK110.41226343
93CAMK10.40754072
94MAPKAPK50.38460036
95TXK0.37419180
96AURKB0.36168712
97CDK30.35836561
98PRKG10.35296885
99PRKCQ0.33912690
100MAP2K40.33055703

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.29275990
2Ribosome_Homo sapiens_hsa030103.69508408
3Parkinsons disease_Homo sapiens_hsa050123.57719678
4Protein export_Homo sapiens_hsa030603.14438994
5RNA polymerase_Homo sapiens_hsa030202.57787773
6Huntingtons disease_Homo sapiens_hsa050162.47163723
7Alzheimers disease_Homo sapiens_hsa050102.36219881
8Proteasome_Homo sapiens_hsa030502.32312921
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.23537061
10Homologous recombination_Homo sapiens_hsa034402.09931018
11Cardiac muscle contraction_Homo sapiens_hsa042602.08106122
12Phototransduction_Homo sapiens_hsa047442.06251276
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.96412765
14Basal transcription factors_Homo sapiens_hsa030221.90316048
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.89035830
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.86642991
17Nicotine addiction_Homo sapiens_hsa050331.66561727
18Fanconi anemia pathway_Homo sapiens_hsa034601.59863873
19RNA degradation_Homo sapiens_hsa030181.57840576
20Butanoate metabolism_Homo sapiens_hsa006501.57375105
21Maturity onset diabetes of the young_Homo sapiens_hsa049501.56586511
22Propanoate metabolism_Homo sapiens_hsa006401.45052419
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.42875475
24Nitrogen metabolism_Homo sapiens_hsa009101.41625933
25Linoleic acid metabolism_Homo sapiens_hsa005911.37652484
26Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.37537789
27Selenocompound metabolism_Homo sapiens_hsa004501.35600217
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.30409523
29Mismatch repair_Homo sapiens_hsa034301.28313220
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.25112563
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.24885084
32One carbon pool by folate_Homo sapiens_hsa006701.18210066
33Nucleotide excision repair_Homo sapiens_hsa034201.17508007
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.17082856
35Pyrimidine metabolism_Homo sapiens_hsa002401.12151126
36Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.10467796
37Sulfur relay system_Homo sapiens_hsa041221.10284975
38Regulation of autophagy_Homo sapiens_hsa041401.09802733
39Tryptophan metabolism_Homo sapiens_hsa003801.08423673
40Collecting duct acid secretion_Homo sapiens_hsa049661.07682861
41Folate biosynthesis_Homo sapiens_hsa007901.06121255
42Steroid biosynthesis_Homo sapiens_hsa001001.05198833
43Peroxisome_Homo sapiens_hsa041461.04473854
44Purine metabolism_Homo sapiens_hsa002301.02311505
45Fatty acid elongation_Homo sapiens_hsa000621.01355968
46Spliceosome_Homo sapiens_hsa030400.99464257
47Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.96885198
48Ether lipid metabolism_Homo sapiens_hsa005650.94789835
49Base excision repair_Homo sapiens_hsa034100.91466801
50RNA transport_Homo sapiens_hsa030130.90933963
51Olfactory transduction_Homo sapiens_hsa047400.90789972
52Caffeine metabolism_Homo sapiens_hsa002320.87369333
53Cysteine and methionine metabolism_Homo sapiens_hsa002700.85850354
54Non-homologous end-joining_Homo sapiens_hsa034500.85033870
55Morphine addiction_Homo sapiens_hsa050320.84168564
56GABAergic synapse_Homo sapiens_hsa047270.82331264
57Taste transduction_Homo sapiens_hsa047420.80831014
58Metabolic pathways_Homo sapiens_hsa011000.79692789
59Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.78048546
60Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.77632425
61Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.76884720
62Primary bile acid biosynthesis_Homo sapiens_hsa001200.76625953
63Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.75249948
64Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.74169897
65Chemical carcinogenesis_Homo sapiens_hsa052040.73684437
66DNA replication_Homo sapiens_hsa030300.72018784
67Sulfur metabolism_Homo sapiens_hsa009200.71825048
68Retinol metabolism_Homo sapiens_hsa008300.65466848
69Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.65227448
70Insulin secretion_Homo sapiens_hsa049110.64846085
71Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.62742928
72Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.62568761
73Serotonergic synapse_Homo sapiens_hsa047260.61789579
74Pentose and glucuronate interconversions_Homo sapiens_hsa000400.61761704
75Glutamatergic synapse_Homo sapiens_hsa047240.58358606
76Circadian entrainment_Homo sapiens_hsa047130.57873498
77Steroid hormone biosynthesis_Homo sapiens_hsa001400.57685915
78Pyruvate metabolism_Homo sapiens_hsa006200.55930222
79Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.55490422
80Arachidonic acid metabolism_Homo sapiens_hsa005900.53515708
81Glutathione metabolism_Homo sapiens_hsa004800.53329772
82beta-Alanine metabolism_Homo sapiens_hsa004100.51708655
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.45490055
84Dopaminergic synapse_Homo sapiens_hsa047280.44369384
85Vitamin digestion and absorption_Homo sapiens_hsa049770.43238440
86Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.42686353
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.42627010
88Synaptic vesicle cycle_Homo sapiens_hsa047210.41171616
89Cocaine addiction_Homo sapiens_hsa050300.38922775
90Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.38174046
91Fat digestion and absorption_Homo sapiens_hsa049750.37466685
92Fatty acid degradation_Homo sapiens_hsa000710.37260863
93Hedgehog signaling pathway_Homo sapiens_hsa043400.36803124
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.35359780
95Basal cell carcinoma_Homo sapiens_hsa052170.32511316
96Mineral absorption_Homo sapiens_hsa049780.31508598
97Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.30571529
98Arginine and proline metabolism_Homo sapiens_hsa003300.29313289
99Oocyte meiosis_Homo sapiens_hsa041140.29109040
100Circadian rhythm_Homo sapiens_hsa047100.27464574

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