FAM111B

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA strand elongation involved in DNA replication (GO:0006271)5.47107389
2telomere maintenance via semi-conservative replication (GO:0032201)5.30001768
3DNA strand elongation (GO:0022616)5.26475146
4mitotic sister chromatid cohesion (GO:0007064)5.10831283
5telomere maintenance via recombination (GO:0000722)4.83590524
6regulation of DNA endoreduplication (GO:0032875)4.81123864
7DNA double-strand break processing (GO:0000729)4.76304966
8DNA unwinding involved in DNA replication (GO:0006268)4.74360654
9mitotic recombination (GO:0006312)4.71725020
10nuclear pore organization (GO:0006999)4.69659408
11DNA replication initiation (GO:0006270)4.64275151
12protein localization to kinetochore (GO:0034501)4.60392404
13mitotic sister chromatid segregation (GO:0000070)4.59342018
14nucleotide-excision repair, DNA gap filling (GO:0006297)4.58146770
15DNA replication checkpoint (GO:0000076)4.55309673
16chromatin remodeling at centromere (GO:0031055)4.51663305
17sister chromatid segregation (GO:0000819)4.51459659
18CENP-A containing nucleosome assembly (GO:0034080)4.48496801
19meiotic chromosome segregation (GO:0045132)4.48295774
20nuclear pore complex assembly (GO:0051292)4.44341918
21mitotic chromosome condensation (GO:0007076)4.42889848
22regulation of centriole replication (GO:0046599)4.41186199
23kinetochore organization (GO:0051383)4.32141351
24protein localization to chromosome, centromeric region (GO:0071459)4.25065590
25somatic hypermutation of immunoglobulin genes (GO:0016446)4.21937972
26somatic diversification of immune receptors via somatic mutation (GO:0002566)4.21937972
27mitotic metaphase plate congression (GO:0007080)4.10752824
28replication fork processing (GO:0031297)4.00009328
29negative regulation of DNA-dependent DNA replication (GO:2000104)3.97616773
30metaphase plate congression (GO:0051310)3.97433357
31translesion synthesis (GO:0019985)3.95814282
32regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.87767615
33double-strand break repair via nonhomologous end joining (GO:0006303)3.86609202
34non-recombinational repair (GO:0000726)3.86609202
35postreplication repair (GO:0006301)3.83310304
36protein K6-linked ubiquitination (GO:0085020)3.82461244
37double-strand break repair via homologous recombination (GO:0000724)3.80137853
38recombinational repair (GO:0000725)3.79834806
39regulation of centrosome cycle (GO:0046605)3.75341034
40protein K11-linked deubiquitination (GO:0035871)3.74892139
41maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.74026407
42histone exchange (GO:0043486)3.68797982
43telomere maintenance via telomere lengthening (GO:0010833)3.68060977
44DNA replication-dependent nucleosome assembly (GO:0006335)3.67095656
45DNA replication-dependent nucleosome organization (GO:0034723)3.67095656
46regulation of centrosome duplication (GO:0010824)3.62711918
47DNA replication-independent nucleosome organization (GO:0034724)3.56270832
48DNA replication-independent nucleosome assembly (GO:0006336)3.56270832
49response to X-ray (GO:0010165)3.54003845
50attachment of spindle microtubules to kinetochore (GO:0008608)3.45962685
51monoubiquitinated protein deubiquitination (GO:0035520)3.45128053
52DNA catabolic process, exonucleolytic (GO:0000738)3.38807077
53telomere maintenance (GO:0000723)3.38056054
54DNA ligation (GO:0006266)3.36524894
55telomere organization (GO:0032200)3.36102094
56pore complex assembly (GO:0046931)3.35372030
57establishment of integrated proviral latency (GO:0075713)3.31693597
58regulation of mitotic metaphase/anaphase transition (GO:0030071)3.28634112
59regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.28634112
60microtubule depolymerization (GO:0007019)3.28610445
61double-strand break repair (GO:0006302)3.27553971
62kinetochore assembly (GO:0051382)3.27376646
63centriole replication (GO:0007099)3.27280355
64establishment of chromosome localization (GO:0051303)3.26671694
65mitotic nuclear envelope disassembly (GO:0007077)3.26555924
66sister chromatid cohesion (GO:0007062)3.25959538
67spindle checkpoint (GO:0031577)3.25833519
68regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.23076962
69positive regulation of chromosome segregation (GO:0051984)3.22116705
70somatic recombination of immunoglobulin gene segments (GO:0016447)3.17760274
71negative regulation of chromosome segregation (GO:0051985)3.15507329
72DNA recombination (GO:0006310)3.14480911
73somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.13871017
74somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.13871017
75isotype switching (GO:0045190)3.13871017
76positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.12692498
77positive regulation of mitotic sister chromatid separation (GO:1901970)3.12692498
78positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.12692498
79protein localization to chromosome (GO:0034502)3.12622922
80regulation of sister chromatid segregation (GO:0033045)3.12446213
81regulation of mitotic sister chromatid separation (GO:0010965)3.12446213
82regulation of mitotic sister chromatid segregation (GO:0033047)3.12446213
83mitotic spindle checkpoint (GO:0071174)3.12004775
84DNA replication (GO:0006260)3.08773386
85regulation of chromosome segregation (GO:0051983)3.08504850
86DNA geometric change (GO:0032392)3.07786835
87negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.07598592
88negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.07598592
89negative regulation of mitotic sister chromatid segregation (GO:0033048)3.07598592
90negative regulation of mitotic sister chromatid separation (GO:2000816)3.07598592
91negative regulation of sister chromatid segregation (GO:0033046)3.07598592
92somatic diversification of immune receptors via germline recombination within a single locus (GO:0003.07263342
93somatic cell DNA recombination (GO:0016444)3.07263342
94DNA strand renaturation (GO:0000733)3.05648624
95chromosome segregation (GO:0007059)3.04820456
96DNA duplex unwinding (GO:0032508)3.03390404
97centrosome organization (GO:0051297)3.03274996
98mitotic cell cycle (GO:0000278)3.01802071
99regulation of mitotic spindle checkpoint (GO:1903504)3.00426870
100regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.00426870

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F4_17652178_ChIP-ChIP_JURKAT_Human4.89385874
2FOXM1_23109430_ChIP-Seq_U2OS_Human4.34904056
3FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.07546697
4* MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.94152631
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.70926526
6* E2F1_21310950_ChIP-Seq_MCF-7_Human2.70137243
7SALL1_21062744_ChIP-ChIP_HESCs_Human2.65046222
8AR_21909140_ChIP-Seq_LNCAP_Human2.52672655
9KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.27350602
10EWS_26573619_Chip-Seq_HEK293_Human2.11052825
11ELK1_19687146_ChIP-ChIP_HELA_Human2.03705203
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.00895925
13E2F7_22180533_ChIP-Seq_HELA_Human10.8179291
14GABP_17652178_ChIP-ChIP_JURKAT_Human1.96582588
15FUS_26573619_Chip-Seq_HEK293_Human1.90432652
16POU3F2_20337985_ChIP-ChIP_501MEL_Human1.89991298
17ZNF274_21170338_ChIP-Seq_K562_Hela1.89327841
18GBX2_23144817_ChIP-Seq_PC3_Human1.89153865
19VDR_22108803_ChIP-Seq_LS180_Human1.88538849
20IGF1R_20145208_ChIP-Seq_DFB_Human1.84692200
21PADI4_21655091_ChIP-ChIP_MCF-7_Human1.83265340
22MYC_18555785_ChIP-Seq_MESCs_Mouse1.77650604
23FLI1_27457419_Chip-Seq_LIVER_Mouse1.76132266
24HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.76032967
25PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.75420220
26CREB1_15753290_ChIP-ChIP_HEK293T_Human1.62146612
27BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.61399891
28* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.60629460
29GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.59586688
30CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.58666536
31NOTCH1_21737748_ChIP-Seq_TLL_Human1.55949919
32ZFP57_27257070_Chip-Seq_ESCs_Mouse1.55420586
33TAF15_26573619_Chip-Seq_HEK293_Human1.50899560
34CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.50287599
35IRF1_19129219_ChIP-ChIP_H3396_Human1.48361020
36* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.48263891
37MYC_18940864_ChIP-ChIP_HL60_Human1.47044790
38FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.45224940
39VDR_23849224_ChIP-Seq_CD4+_Human1.43559471
40FOXP3_21729870_ChIP-Seq_TREG_Human1.39045258
41P300_19829295_ChIP-Seq_ESCs_Human1.36620186
42YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.35419474
43SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.31744814
44PCGF2_27294783_Chip-Seq_ESCs_Mouse1.31616512
45AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.31387180
46ER_23166858_ChIP-Seq_MCF-7_Human1.29881103
47MYC_19030024_ChIP-ChIP_MESCs_Mouse1.25209022
48CTBP1_25329375_ChIP-Seq_LNCAP_Human1.24111514
49ETS1_20019798_ChIP-Seq_JURKAT_Human1.22303368
50STAT3_23295773_ChIP-Seq_U87_Human1.21874955
51MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.21449882
52TP63_19390658_ChIP-ChIP_HaCaT_Human1.15588529
53* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.12428878
54GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.10957945
55DCP1A_22483619_ChIP-Seq_HELA_Human1.10639755
56FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.10629180
57JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.09067519
58PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.07904993
59MYCN_18555785_ChIP-Seq_MESCs_Mouse1.04956211
60CBP_20019798_ChIP-Seq_JUKART_Human1.00722006
61IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.00722006
62EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.00483957
63ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.99749986
64MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.98537676
65NELFA_20434984_ChIP-Seq_ESCs_Mouse0.98274221
66UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97848342
67TCF4_23295773_ChIP-Seq_U87_Human0.97479896
68EZH2_27294783_Chip-Seq_NPCs_Mouse0.97308852
69TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96949765
70KDM5A_27292631_Chip-Seq_BREAST_Human0.96769562
71MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.96622397
72NFE2_27457419_Chip-Seq_LIVER_Mouse0.94929970
73SMAD4_21799915_ChIP-Seq_A2780_Human0.94859610
74MYC_19079543_ChIP-ChIP_MESCs_Mouse0.94350123
75SUZ12_27294783_Chip-Seq_NPCs_Mouse0.92265062
76FOXM1_26456572_ChIP-Seq_MCF-7_Human0.91911665
77HOXB4_20404135_ChIP-ChIP_EML_Mouse0.90724326
78E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.90484653
79MYC_18358816_ChIP-ChIP_MESCs_Mouse0.89139912
80TTF2_22483619_ChIP-Seq_HELA_Human0.88152254
81AR_25329375_ChIP-Seq_VCAP_Human0.88088729
82PIAS1_25552417_ChIP-Seq_VCAP_Human0.87408514
83NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86213389
84TCF4_22108803_ChIP-Seq_LS180_Human0.85334332
85POU5F1_16153702_ChIP-ChIP_HESCs_Human0.85025731
86TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.84074463
87PCGF2_27294783_Chip-Seq_NPCs_Mouse0.83925154
88POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.81590296
89AR_21572438_ChIP-Seq_LNCaP_Human0.81006952
90* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.80775190
91GABP_19822575_ChIP-Seq_HepG2_Human0.80282321
92NANOG_18555785_Chip-Seq_ESCs_Mouse0.80244199
93P300_18555785_Chip-Seq_ESCs_Mouse0.79453991
94SOX9_26525672_Chip-Seq_HEART_Mouse0.79266071
95CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.78034628
96CRX_20693478_ChIP-Seq_RETINA_Mouse0.77532586
97TP53_22573176_ChIP-Seq_HFKS_Human0.77486603
98CDX2_22108803_ChIP-Seq_LS180_Human0.77005336
99E2F1_18555785_Chip-Seq_ESCs_Mouse0.76303860
100SMAD3_21741376_ChIP-Seq_EPCs_Human0.75961003

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication6.84980102
2MP0010094_abnormal_chromosome_stability6.23180408
3MP0008058_abnormal_DNA_repair3.98934541
4MP0003693_abnormal_embryo_hatching3.97844221
5MP0003111_abnormal_nucleus_morphology3.63386187
6MP0003077_abnormal_cell_cycle3.32261515
7MP0004957_abnormal_blastocyst_morpholog3.06769543
8MP0008877_abnormal_DNA_methylation2.70862384
9MP0008932_abnormal_embryonic_tissue2.22239479
10MP0003718_maternal_effect2.21694090
11MP0009697_abnormal_copulation2.02391693
12MP0008007_abnormal_cellular_replicative1.98566965
13MP0000427_abnormal_hair_cycle1.69148759
14MP0010307_abnormal_tumor_latency1.68734006
15MP0000569_abnormal_digit_pigmentation1.67544057
16MP0003890_abnormal_embryonic-extraembry1.62447768
17MP0003950_abnormal_plasma_membrane1.61580584
18MP0006292_abnormal_olfactory_placode1.60357145
19MP0003786_premature_aging1.57200420
20MP0002396_abnormal_hematopoietic_system1.50768560
21MP0002736_abnormal_nociception_after1.49457670
22MP0010352_gastrointestinal_tract_polyps1.48680468
23MP0003941_abnormal_skin_development1.47249165
24MP0000350_abnormal_cell_proliferation1.38153055
25MP0002102_abnormal_ear_morphology1.32504533
26MP0003937_abnormal_limbs/digits/tail_de1.32285050
27MP0002210_abnormal_sex_determination1.24539636
28MP0005310_abnormal_salivary_gland1.23662602
29MP0000383_abnormal_hair_follicle1.22459948
30MP0005380_embryogenesis_phenotype1.22338000
31MP0001672_abnormal_embryogenesis/_devel1.22338000
32MP0002138_abnormal_hepatobiliary_system1.20112704
33MP0000372_irregular_coat_pigmentation1.16834775
34MP0001697_abnormal_embryo_size1.16069551
35MP0001929_abnormal_gametogenesis1.14637880
36MP0005395_other_phenotype1.13884411
37MP0009046_muscle_twitch1.12564365
38MP0001293_anophthalmia1.12004768
39MP0001346_abnormal_lacrimal_gland1.11937149
40MP0005645_abnormal_hypothalamus_physiol1.10744118
41MP0004197_abnormal_fetal_growth/weight/1.09602249
42MP0001730_embryonic_growth_arrest1.08786886
43MP0005551_abnormal_eye_electrophysiolog1.07312446
44MP0006072_abnormal_retinal_apoptosis1.05955913
45MP0003984_embryonic_growth_retardation1.05176710
46MP0003806_abnormal_nucleotide_metabolis1.04242231
47MP0002088_abnormal_embryonic_growth/wei1.04018878
48MP0002160_abnormal_reproductive_system1.03767996
49MP0010678_abnormal_skin_adnexa1.02825391
50MP0001145_abnormal_male_reproductive1.00268276
51MP0002938_white_spotting0.99928523
52MP0002163_abnormal_gland_morphology0.98608322
53MP0005253_abnormal_eye_physiology0.97208479
54MP0005389_reproductive_system_phenotype0.96844911
55MP0000653_abnormal_sex_gland0.96317687
56MP0002006_tumorigenesis0.94004822
57MP0002009_preneoplasia0.93296171
58MP0002019_abnormal_tumor_incidence0.92302794
59MP0002234_abnormal_pharynx_morphology0.92298023
60MP0002085_abnormal_embryonic_tissue0.91135957
61MP0001348_abnormal_lacrimal_gland0.90298799
62MP0005266_abnormal_metabolism0.87192972
63MP0003943_abnormal_hepatobiliary_system0.86681221
64MP0002084_abnormal_developmental_patter0.86457571
65MP0000313_abnormal_cell_death0.84236784
66MP0002095_abnormal_skin_pigmentation0.83966670
67MP0002080_prenatal_lethality0.83480613
68MP0003698_abnormal_male_reproductive0.82248445
69MP0001119_abnormal_female_reproductive0.82245359
70MP0003121_genomic_imprinting0.81423966
71MP0001286_abnormal_eye_development0.81368672
72MP0003195_calcinosis0.80320929
73MP0000631_abnormal_neuroendocrine_gland0.79286052
74MP0008789_abnormal_olfactory_epithelium0.78459223
75MP0001968_abnormal_touch/_nociception0.78034017
76MP0001919_abnormal_reproductive_system0.77727139
77MP0000647_abnormal_sebaceous_gland0.75915438
78MP0005647_abnormal_sex_gland0.75734542
79MP0002233_abnormal_nose_morphology0.75223284
80MP0009672_abnormal_birth_weight0.74029088
81MP0008872_abnormal_physiological_respon0.73618843
82MP0002928_abnormal_bile_duct0.71007557
83MP0002697_abnormal_eye_size0.70720531
84MP0003045_fibrosis0.69987425
85MP0001529_abnormal_vocalization0.69684661
86MP0001984_abnormal_olfaction0.68735090
87MP0003136_yellow_coat_color0.68493907
88MP0003787_abnormal_imprinting0.67585217
89MP0009703_decreased_birth_body0.67213653
90MP0003646_muscle_fatigue0.66763785
91MP0003755_abnormal_palate_morphology0.66636280
92MP0006035_abnormal_mitochondrial_morpho0.66460800
93MP0004043_abnormal_pH_regulation0.65844183
94MP0001485_abnormal_pinna_reflex0.65583543
95MP0003868_abnormal_feces_composition0.64958662
96MP0003183_abnormal_peptide_metabolism0.64827153
97MP0000371_diluted_coat_color0.63532843
98MP0005408_hypopigmentation0.63342427
99MP0000358_abnormal_cell_content/0.62932014
100MP0005379_endocrine/exocrine_gland_phen0.62420106

Predicted human phenotypes

RankGene SetZ-score
1Chromosomal breakage induced by crosslinking agents (HP:0003221)6.97154242
2Chromsome breakage (HP:0040012)6.63320000
3Abnormality of chromosome stability (HP:0003220)4.84581958
4Aplasia/Hypoplasia of the uvula (HP:0010293)4.77982346
5Meckel diverticulum (HP:0002245)4.34921270
6Abnormality of the preputium (HP:0100587)4.22534500
7Abnormality of the ileum (HP:0001549)4.21901692
8Volvulus (HP:0002580)3.72761168
9Birth length less than 3rd percentile (HP:0003561)3.56058884
10Clubbing of toes (HP:0100760)3.39882242
11Small intestinal stenosis (HP:0012848)3.38084940
12Duodenal stenosis (HP:0100867)3.38084940
13Colon cancer (HP:0003003)3.36052732
14Abnormality of the carotid arteries (HP:0005344)3.29697190
15Sloping forehead (HP:0000340)3.11080648
16Ectopic kidney (HP:0000086)2.97951423
17Abnormality of the duodenum (HP:0002246)2.92930445
18Absent radius (HP:0003974)2.84617738
19Abnormality of the labia minora (HP:0012880)2.77893316
20Nephroblastoma (Wilms tumor) (HP:0002667)2.67720679
21Absent forearm bone (HP:0003953)2.66798869
22Aplasia involving forearm bones (HP:0009822)2.66798869
23Pancreatic cysts (HP:0001737)2.65685961
24Myelodysplasia (HP:0002863)2.64156301
25Abnormality of DNA repair (HP:0003254)2.59794481
26Embryonal renal neoplasm (HP:0011794)2.59710969
27Pancreatic fibrosis (HP:0100732)2.47979445
28Glioma (HP:0009733)2.43402515
29Chronic hepatic failure (HP:0100626)2.41437895
30Triphalangeal thumb (HP:0001199)2.40182070
31True hermaphroditism (HP:0010459)2.38477559
32Duplicated collecting system (HP:0000081)2.36981151
33Patellar aplasia (HP:0006443)2.34614031
34Medulloblastoma (HP:0002885)2.32147744
35Gaze-evoked nystagmus (HP:0000640)2.28648431
36Rhabdomyosarcoma (HP:0002859)2.28577279
37Abnormal lung lobation (HP:0002101)2.26676119
38Astrocytoma (HP:0009592)2.24740676
39Abnormality of the astrocytes (HP:0100707)2.24740676
40Aplasia/Hypoplasia of the patella (HP:0006498)2.18023194
41Increased nuchal translucency (HP:0010880)2.17888719
42Abnormality of the renal collecting system (HP:0004742)2.17050252
43Small hand (HP:0200055)2.13382853
44Absent thumb (HP:0009777)2.09545651
45Central scotoma (HP:0000603)2.08911671
46Short thumb (HP:0009778)2.07327965
47Ependymoma (HP:0002888)2.06402954
48Genetic anticipation (HP:0003743)2.05576358
49Attenuation of retinal blood vessels (HP:0007843)2.02353895
50Cafe-au-lait spot (HP:0000957)2.01861619
51Astigmatism (HP:0000483)2.01516269
52IgA deficiency (HP:0002720)2.00803192
53Hypoplasia of the pons (HP:0012110)2.00519063
54Abnormality of midbrain morphology (HP:0002418)1.99458055
55Molar tooth sign on MRI (HP:0002419)1.99458055
56Oligohydramnios (HP:0001562)1.98316341
57Oligodactyly (hands) (HP:0001180)1.98190943
58Arteriovenous malformation (HP:0100026)1.95440810
59Neoplasm of the adrenal cortex (HP:0100641)1.94352182
60Aplasia/Hypoplasia of the tongue (HP:0010295)1.91274770
61Aplasia/Hypoplasia of the tibia (HP:0005772)1.90915539
62Facial hemangioma (HP:0000329)1.90101536
63Abnormality of the renal cortex (HP:0011035)1.88707098
64Prominent nose (HP:0000448)1.86553845
65Prostate neoplasm (HP:0100787)1.85198938
66Abnormality of the pons (HP:0007361)1.83148609
67Hypoplastic labia majora (HP:0000059)1.81826248
68Preaxial hand polydactyly (HP:0001177)1.81358122
69Fair hair (HP:0002286)1.81094828
70Aplasia/Hypoplasia of the sternum (HP:0006714)1.80912253
71Choanal atresia (HP:0000453)1.80737745
72Sclerocornea (HP:0000647)1.78742497
73Abnormality of B cell number (HP:0010975)1.76659171
74Horseshoe kidney (HP:0000085)1.75182787
75Neoplasm of the colon (HP:0100273)1.74058089
76Supernumerary spleens (HP:0009799)1.73192044
77Bony spicule pigmentary retinopathy (HP:0007737)1.72127352
78Nephronophthisis (HP:0000090)1.71000855
79Hyperventilation (HP:0002883)1.70334397
80Protruding tongue (HP:0010808)1.69818221
81B lymphocytopenia (HP:0010976)1.69446790
82Congenital stationary night blindness (HP:0007642)1.68952098
83Dandy-Walker malformation (HP:0001305)1.68494466
84High pitched voice (HP:0001620)1.67431688
85Squamous cell carcinoma (HP:0002860)1.67318169
86Abnormality of the labia majora (HP:0012881)1.66585366
87Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.62693293
88Abnormality of alanine metabolism (HP:0010916)1.62693293
89Hyperalaninemia (HP:0003348)1.62693293
90Abnormality of the renal medulla (HP:0100957)1.62502188
91Abnormality of chromosome segregation (HP:0002916)1.61335950
92Abnormal glycosylation (HP:0012345)1.60951544
93Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.60951544
94Abnormal protein N-linked glycosylation (HP:0012347)1.60951544
95Abnormal protein glycosylation (HP:0012346)1.60951544
96Biliary tract neoplasm (HP:0100574)1.60093789
97Pendular nystagmus (HP:0012043)1.59629897
98Acute lymphatic leukemia (HP:0006721)1.58984917
99Reticulocytopenia (HP:0001896)1.58531256
100Cleft eyelid (HP:0000625)1.57751661

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.73739184
2CDC74.50084848
3EIF2AK33.11423514
4BUB12.90350725
5NEK12.60567355
6WEE12.57736009
7TTK2.50472639
8MKNK22.45328568
9TRIM282.38706315
10ZAK2.37189402
11BRSK22.29181069
12PLK42.27510722
13TAF12.11304038
14BMPR1B2.07328726
15STK38L2.05859216
16NUAK12.04213857
17SRPK11.95432773
18PBK1.95117949
19VRK21.81642566
20WNK31.77561067
21CHEK21.76435785
22MKNK11.72222191
23MST41.71068451
24PLK11.69673282
25EIF2AK11.67412239
26PLK31.66616186
27ACVR1B1.64499094
28TSSK61.61452822
29ATR1.59660377
30NEK21.33684391
31VRK11.30744189
32STK31.30391492
33EIF2AK21.21241334
34LATS11.16846491
35STK391.16040289
36CDK81.15924329
37AURKB1.14725441
38MELK1.12649530
39CCNB11.11519547
40BCR1.06712369
41CHEK11.05950646
42CDK121.04805710
43ATM1.02091149
44CDK70.99374835
45BRSK10.97549386
46PNCK0.93262089
47BRD40.90998294
48RPS6KB20.90258588
49TGFBR10.88165290
50MAP4K20.88026669
51CASK0.86802490
52MAP3K100.86317071
53OXSR10.80256753
54TNIK0.77841823
55CDK40.76448337
56INSRR0.75364876
57GRK10.69014446
58CDK10.62278768
59PLK20.59856910
60AURKA0.58188818
61ADRBK20.57060568
62MAPK130.54006005
63PASK0.52130567
64MAP3K40.51008017
65STK240.50699487
66SIK30.50589151
67CDK20.49899158
68PRKCI0.48109927
69CSNK1G10.46499045
70NEK90.44719755
71ERBB40.44693025
72TEC0.43566234
73TAOK30.43213055
74CDK30.42690403
75CSNK1A1L0.41538472
76NME10.38684239
77PRKDC0.36896219
78TLK10.35771648
79CSNK1D0.34319437
80CSNK1G30.32592037
81STK40.32542028
82ERBB30.32117781
83CDK90.32047362
84CSNK2A10.31590083
85AKT30.31102390
86CSNK1E0.30467630
87MAPKAPK50.30268777
88STK100.29637170
89CSNK1G20.28215730
90STK160.28032544
91MUSK0.28015028
92CSNK2A20.27038244
93MAPK110.26889974
94SCYL20.26003598
95MST1R0.25458085
96DAPK10.24415485
97IRAK10.24110444
98GSK3B0.23067821
99MAPK140.22484061
100WNK40.22105439

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.35138790
2Mismatch repair_Homo sapiens_hsa034304.63760750
3Homologous recombination_Homo sapiens_hsa034404.46979653
4Fanconi anemia pathway_Homo sapiens_hsa034603.89705353
5Non-homologous end-joining_Homo sapiens_hsa034503.88102135
6Base excision repair_Homo sapiens_hsa034102.95645763
7Cell cycle_Homo sapiens_hsa041102.89082476
8Nucleotide excision repair_Homo sapiens_hsa034202.77747213
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.53659010
10One carbon pool by folate_Homo sapiens_hsa006702.37721092
11Proteasome_Homo sapiens_hsa030502.32683958
12RNA polymerase_Homo sapiens_hsa030202.17757234
13RNA transport_Homo sapiens_hsa030132.14755798
14Pyrimidine metabolism_Homo sapiens_hsa002401.94260097
15RNA degradation_Homo sapiens_hsa030181.82012926
16Spliceosome_Homo sapiens_hsa030401.74449578
17Basal transcription factors_Homo sapiens_hsa030221.70468012
18Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.67425344
19Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.62403327
20Selenocompound metabolism_Homo sapiens_hsa004501.56624861
21p53 signaling pathway_Homo sapiens_hsa041151.53940991
22Butanoate metabolism_Homo sapiens_hsa006501.48228875
23Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.41727572
24Propanoate metabolism_Homo sapiens_hsa006401.38940019
25Cysteine and methionine metabolism_Homo sapiens_hsa002701.32041284
26Protein export_Homo sapiens_hsa030601.29224577
27Purine metabolism_Homo sapiens_hsa002301.24648124
28mRNA surveillance pathway_Homo sapiens_hsa030151.18634755
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.14903298
30Lysine degradation_Homo sapiens_hsa003101.06706494
31N-Glycan biosynthesis_Homo sapiens_hsa005101.00356595
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.96071268
33Oocyte meiosis_Homo sapiens_hsa041140.94723304
34Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.94341958
35Tryptophan metabolism_Homo sapiens_hsa003800.90216814
36Phototransduction_Homo sapiens_hsa047440.86830456
37Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.79069585
38Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.77504651
39Systemic lupus erythematosus_Homo sapiens_hsa053220.76659572
40Primary immunodeficiency_Homo sapiens_hsa053400.76566591
41Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.74344822
42Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.74179144
43Intestinal immune network for IgA production_Homo sapiens_hsa046720.70894808
44Steroid hormone biosynthesis_Homo sapiens_hsa001400.67428051
45Glutathione metabolism_Homo sapiens_hsa004800.65554437
46Epstein-Barr virus infection_Homo sapiens_hsa051690.60676117
47Primary bile acid biosynthesis_Homo sapiens_hsa001200.59893477
48Sulfur relay system_Homo sapiens_hsa041220.56474654
49Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.55985249
50Taste transduction_Homo sapiens_hsa047420.55515544
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.55369574
52Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.54300526
53MicroRNAs in cancer_Homo sapiens_hsa052060.53790418
54Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.52641398
55Pyruvate metabolism_Homo sapiens_hsa006200.52373099
56Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.48215787
57Ether lipid metabolism_Homo sapiens_hsa005650.48085682
58Folate biosynthesis_Homo sapiens_hsa007900.46703944
59Nicotine addiction_Homo sapiens_hsa050330.45468509
60Steroid biosynthesis_Homo sapiens_hsa001000.45201655
61ABC transporters_Homo sapiens_hsa020100.43449136
62Melanoma_Homo sapiens_hsa052180.42550982
63Olfactory transduction_Homo sapiens_hsa047400.40689818
64Viral carcinogenesis_Homo sapiens_hsa052030.40230918
65Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.39779289
66Alcoholism_Homo sapiens_hsa050340.39571379
67Metabolic pathways_Homo sapiens_hsa011000.38173227
68Small cell lung cancer_Homo sapiens_hsa052220.36940218
69Hippo signaling pathway_Homo sapiens_hsa043900.36131355
70TGF-beta signaling pathway_Homo sapiens_hsa043500.36069750
71Linoleic acid metabolism_Homo sapiens_hsa005910.35075595
72Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.34101223
73Huntingtons disease_Homo sapiens_hsa050160.33253616
74Pentose and glucuronate interconversions_Homo sapiens_hsa000400.32385635
75Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.29808593
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.29626129
77Prostate cancer_Homo sapiens_hsa052150.29108362
78alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.27819270
79Fatty acid metabolism_Homo sapiens_hsa012120.26872204
80Drug metabolism - other enzymes_Homo sapiens_hsa009830.25667610
81Fatty acid biosynthesis_Homo sapiens_hsa000610.25294632
82Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.24934212
83Herpes simplex infection_Homo sapiens_hsa051680.24896745
84Retinol metabolism_Homo sapiens_hsa008300.24790421
85Basal cell carcinoma_Homo sapiens_hsa052170.24094090
86Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.23427180
87Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.23133289
88HTLV-I infection_Homo sapiens_hsa051660.23033800
89Biosynthesis of amino acids_Homo sapiens_hsa012300.22313441
90Vitamin B6 metabolism_Homo sapiens_hsa007500.22022739
91beta-Alanine metabolism_Homo sapiens_hsa004100.19163422
92Sphingolipid metabolism_Homo sapiens_hsa006000.17800007
93Nitrogen metabolism_Homo sapiens_hsa009100.15797250
94Fatty acid degradation_Homo sapiens_hsa000710.14187711
95Hedgehog signaling pathway_Homo sapiens_hsa043400.14175642
96Vitamin digestion and absorption_Homo sapiens_hsa049770.13536170
97Serotonergic synapse_Homo sapiens_hsa047260.13515802
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.12762339
99Glycerolipid metabolism_Homo sapiens_hsa005610.12639466
100Chemical carcinogenesis_Homo sapiens_hsa052040.11904454

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