SMARCC1

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: The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA unwinding involved in DNA replication (GO:0006268)5.00532632
2nuclear pore complex assembly (GO:0051292)4.93307682
3nuclear pore organization (GO:0006999)4.92598832
4establishment of integrated proviral latency (GO:0075713)4.62266887
5pre-miRNA processing (GO:0031054)4.55995195
6protein localization to kinetochore (GO:0034501)4.37521979
7mitotic sister chromatid cohesion (GO:0007064)4.30893938
8regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.94603391
9mitotic nuclear envelope disassembly (GO:0007077)3.94080665
10heterochromatin organization (GO:0070828)3.76185212
11negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.73183205
12sister chromatid segregation (GO:0000819)3.71063202
13nuclear envelope disassembly (GO:0051081)3.68258448
14membrane disassembly (GO:0030397)3.68258448
15paraxial mesoderm development (GO:0048339)3.67178979
16protein localization to chromosome, centromeric region (GO:0071459)3.66688813
17dosage compensation (GO:0007549)3.65033606
18pore complex assembly (GO:0046931)3.63651993
19kinetochore organization (GO:0051383)3.63434473
20DNA replication-dependent nucleosome organization (GO:0034723)3.61726196
21DNA replication-dependent nucleosome assembly (GO:0006335)3.61726196
22DNA duplex unwinding (GO:0032508)3.59555486
23DNA geometric change (GO:0032392)3.59162436
24regulation of posttranscriptional gene silencing (GO:0060147)3.54918341
25regulation of gene silencing by miRNA (GO:0060964)3.54918341
26regulation of gene silencing by RNA (GO:0060966)3.54918341
27chromosome condensation (GO:0030261)3.53104354
28mitotic sister chromatid segregation (GO:0000070)3.48677757
29ribosomal small subunit biogenesis (GO:0042274)3.48663479
30regulation of RNA export from nucleus (GO:0046831)3.46533896
31negative regulation of RNA splicing (GO:0033119)3.46214234
32regulation of centriole replication (GO:0046599)3.45869780
33CENP-A containing nucleosome assembly (GO:0034080)3.42167729
34DNA strand elongation involved in DNA replication (GO:0006271)3.41684708
35DNA replication initiation (GO:0006270)3.40080031
36protein complex localization (GO:0031503)3.37263748
37regulation of sister chromatid cohesion (GO:0007063)3.37203007
38mitotic chromosome condensation (GO:0007076)3.37170607
39DNA ligation (GO:0006266)3.36511416
40non-recombinational repair (GO:0000726)3.34803568
41double-strand break repair via nonhomologous end joining (GO:0006303)3.34803568
42negative regulation of mRNA processing (GO:0050686)3.34680704
43regulation of histone H3-K9 methylation (GO:0051570)3.34009753
44negative regulation of histone methylation (GO:0031061)3.32857516
45mitotic metaphase plate congression (GO:0007080)3.30385150
46establishment of viral latency (GO:0019043)3.27421867
47translational termination (GO:0006415)3.25103213
48IMP biosynthetic process (GO:0006188)3.24967401
49DNA strand elongation (GO:0022616)3.24934215
50viral transcription (GO:0019083)3.24536477
51* nucleosome disassembly (GO:0006337)3.21978937
52* protein-DNA complex disassembly (GO:0032986)3.21978937
53telomere maintenance via recombination (GO:0000722)3.19144530
54glucocorticoid receptor signaling pathway (GO:0042921)3.17260322
55ribosomal small subunit assembly (GO:0000028)3.17129327
56RNA stabilization (GO:0043489)3.15405441
57mRNA stabilization (GO:0048255)3.15405441
58chromatin assembly (GO:0031497)3.15025317
59nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.13183735
60DNA packaging (GO:0006323)3.11675960
61negative regulation of DNA repair (GO:0045738)3.11265908
62regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.11235088
63histone exchange (GO:0043486)3.11209128
64regulation of spindle organization (GO:0090224)3.09919996
65negative regulation of mRNA metabolic process (GO:1903312)3.09816834
66kinetochore assembly (GO:0051382)3.08874380
67DNA topological change (GO:0006265)3.08621250
68peptidyl-arginine omega-N-methylation (GO:0035247)3.08116408
69metaphase plate congression (GO:0051310)3.06607429
70V(D)J recombination (GO:0033151)3.06187737
71regulation of nucleobase-containing compound transport (GO:0032239)3.04383671
72folic acid-containing compound biosynthetic process (GO:0009396)3.04280146
73positive regulation of chromosome segregation (GO:0051984)3.03430181
74maturation of SSU-rRNA (GO:0030490)3.00086159
75alternative mRNA splicing, via spliceosome (GO:0000380)2.99537916
76spliceosomal tri-snRNP complex assembly (GO:0000244)2.99009236
77L-serine metabolic process (GO:0006563)2.95771252
78DNA replication checkpoint (GO:0000076)2.95181166
79protein localization to chromosome (GO:0034502)2.95023548
80regulation of translational fidelity (GO:0006450)2.93952578
81regulation of DNA endoreduplication (GO:0032875)2.93750533
82formation of translation preinitiation complex (GO:0001731)2.93678060
83DNA conformation change (GO:0071103)2.93172831
84chromatin assembly or disassembly (GO:0006333)2.92890498
85telomere maintenance via semi-conservative replication (GO:0032201)2.91434438
86spindle assembly checkpoint (GO:0071173)2.90861049
87mitotic recombination (GO:0006312)2.90383921
88RNA splicing, via transesterification reactions with bulged adenosine as nucleophile (GO:0000377)2.89772580
89mRNA splicing, via spliceosome (GO:0000398)2.89772580
90negative regulation of chromosome segregation (GO:0051985)2.89499443
91regulation of chromosome segregation (GO:0051983)2.89206786
92RNA splicing, via transesterification reactions (GO:0000375)2.88961694
93nuclear envelope organization (GO:0006998)2.88477445
94spindle checkpoint (GO:0031577)2.88340340
95regulation of helicase activity (GO:0051095)2.86254721
96peptidyl-arginine N-methylation (GO:0035246)2.86216042
97peptidyl-arginine methylation (GO:0018216)2.86216042
98mitotic spindle assembly checkpoint (GO:0007094)2.85450695
99DNA replication-independent nucleosome organization (GO:0034724)2.85331149
100DNA replication-independent nucleosome assembly (GO:0006336)2.85331149
101regulation of mitotic spindle organization (GO:0060236)2.85023342
102mitotic spindle checkpoint (GO:0071174)2.83606647
103regulation of mitotic metaphase/anaphase transition (GO:0030071)2.83448239
104negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.82682907
105negative regulation of sister chromatid segregation (GO:0033046)2.82682907
106negative regulation of mitotic sister chromatid separation (GO:2000816)2.82682907
107negative regulation of mitotic sister chromatid segregation (GO:0033048)2.82682907
108ribosomal large subunit biogenesis (GO:0042273)2.81839922
109translational initiation (GO:0006413)2.81793783
110translesion synthesis (GO:0019985)2.81416812
111regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.81397824
112regulation of mRNA stability (GO:0043488)2.79999278
113mRNA transport (GO:0051028)2.79101040
114purine nucleobase biosynthetic process (GO:0009113)2.77744343
115notochord development (GO:0030903)2.77322358
116positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.76338180
117positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.76338180
118positive regulation of mitotic sister chromatid separation (GO:1901970)2.76338180
119regulation of stem cell maintenance (GO:2000036)2.76023417
120attachment of spindle microtubules to kinetochore (GO:0008608)2.75600381
121regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.75552979
122* ATP-dependent chromatin remodeling (GO:0043044)2.75402818
123IMP metabolic process (GO:0046040)2.73518780
124chromatin remodeling at centromere (GO:0031055)2.73427931
125negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.72488021
126nucleobase biosynthetic process (GO:0046112)2.71970537
127regulation of centrosome cycle (GO:0046605)2.69981628
128regulation of mitotic sister chromatid segregation (GO:0033047)2.68905884
129regulation of sister chromatid segregation (GO:0033045)2.68905884

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human5.64663253
2E2F4_17652178_ChIP-ChIP_JURKAT_Human4.33301135
3MYC_18555785_ChIP-Seq_MESCs_Mouse3.86746557
4FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.59154698
5EGR1_19374776_ChIP-ChIP_THP-1_Human3.57110347
6* MYC_19079543_ChIP-ChIP_MESCs_Mouse2.92337346
7* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.83141409
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.76103263
9TP63_19390658_ChIP-ChIP_HaCaT_Human2.70350819
10* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.48937144
11E2F1_21310950_ChIP-Seq_MCF-7_Human2.44359732
12* MYC_22102868_ChIP-Seq_BL_Human2.41602249
13AR_21909140_ChIP-Seq_LNCAP_Human2.34447169
14SALL1_21062744_ChIP-ChIP_HESCs_Human2.16105966
15XRN2_22483619_ChIP-Seq_HELA_Human2.12215681
16* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.10760231
17RBPJ_22232070_ChIP-Seq_NCS_Mouse2.09448061
18MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.03757797
19E2F7_22180533_ChIP-Seq_HELA_Human10.6721934
20MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.99891595
21MYC_18358816_ChIP-ChIP_MESCs_Mouse1.99599969
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.98588797
23ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.91448882
24MYCN_18555785_ChIP-Seq_MESCs_Mouse1.81496397
25CIITA_25753668_ChIP-Seq_RAJI_Human1.73962364
26SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.72234400
27POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.67826744
28YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.67552775
29EST1_17652178_ChIP-ChIP_JURKAT_Human1.64606202
30TTF2_22483619_ChIP-Seq_HELA_Human1.63932403
31NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.63818235
32SOX2_18555785_ChIP-Seq_MESCs_Mouse1.61326337
33KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.59405574
34KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.59405574
35KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.59405574
36CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.59333369
37HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.50037044
38HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.49929096
39POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.47429032
40ZFX_18555785_ChIP-Seq_MESCs_Mouse1.47354459
41NANOG_18555785_ChIP-Seq_MESCs_Mouse1.45145474
42CREB1_15753290_ChIP-ChIP_HEK293T_Human1.43287795
43ESR1_15608294_ChIP-ChIP_MCF-7_Human1.42261452
44ETS1_20019798_ChIP-Seq_JURKAT_Human1.41767026
45KDM5A_27292631_Chip-Seq_BREAST_Human1.41012153
46SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.39139595
47* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.39069081
48KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.37010852
49TCF3_18692474_ChIP-Seq_MEFs_Mouse1.33869285
50NANOG_21062744_ChIP-ChIP_HESCs_Human1.30863710
51FOXP3_21729870_ChIP-Seq_TREG_Human1.29312351
52CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.28895149
53* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28071559
54POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.27102573
55E2F1_18555785_ChIP-Seq_MESCs_Mouse1.25598631
56ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.22868208
57* VDR_23849224_ChIP-Seq_CD4+_Human1.22647659
58JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.22348615
59VDR_21846776_ChIP-Seq_THP-1_Human1.21349450
60* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.17829035
61TCF3_18692474_ChIP-Seq_MESCs_Mouse1.17476822
62KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.17249459
63DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.16528543
64* GABP_19822575_ChIP-Seq_HepG2_Human1.16036932
65DCP1A_22483619_ChIP-Seq_HELA_Human1.15348613
66ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.14829056
67* ELK1_19687146_ChIP-ChIP_HELA_Human1.14116795
68PKCTHETA_26484144_Chip-Seq_BREAST_Human1.13572197
69* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.13466673
70STAT6_21828071_ChIP-Seq_BEAS2B_Human1.12943748
71POU5F1_16153702_ChIP-ChIP_HESCs_Human1.12847602
72ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.12618875
73* CHD1_26751641_Chip-Seq_LNCaP_Human1.12499129
74THAP11_20581084_ChIP-Seq_MESCs_Mouse1.12221894
75MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.11962512
76SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.09259148
77ZFP281_27345836_Chip-Seq_ESCs_Mouse1.08986502
78ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.08914039
79* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.08831140
80NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.08749441
81FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.08507411
82E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.07761019
83ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06651942
84STAT3_1855785_ChIP-Seq_MESCs_Mouse1.05258906
85KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.01795246
86HOXB4_20404135_ChIP-ChIP_EML_Mouse1.01734303
87SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.99549893
88SOX2_16153702_ChIP-ChIP_HESCs_Human0.99428840
89PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.97935196
90TP63_17297297_ChIP-ChIP_HaCaT_Human0.97614431
91TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.97503619
92TCF7_22412390_ChIP-Seq_EML_Mouse0.97037579
93FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.96916288
94SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.96863089
95PADI4_21655091_ChIP-ChIP_MCF-7_Human0.96725722
96SOX17_20123909_ChIP-Seq_XEN_Mouse0.95949780
97YY1_21170310_ChIP-Seq_MESCs_Mouse0.94881162
98GATA1_26923725_Chip-Seq_HPCs_Mouse0.94516109
99POU5F1_16518401_ChIP-PET_MESCs_Mouse0.94364034
100NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.94217011
101NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.93536957
102DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.93481366
103CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.93213545
104MYC_18940864_ChIP-ChIP_HL60_Human0.92226519
105NANOG_16153702_ChIP-ChIP_HESCs_Human0.91557444
106ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.91482584
107TFEB_21752829_ChIP-Seq_HELA_Human0.91058261
108* ERG_20887958_ChIP-Seq_HPC-7_Mouse0.90472611
109GABP_17652178_ChIP-ChIP_JURKAT_Human0.89859025
110FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.89734603
111WT1_19549856_ChIP-ChIP_CCG9911_Human0.88962688
112DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.88543856
113* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.88142626
114SOX2_18692474_ChIP-Seq_MEFs_Mouse0.79887007

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability3.31268589
2MP0003693_abnormal_embryo_hatching3.24023525
3MP0003111_abnormal_nucleus_morphology3.17680287
4MP0008057_abnormal_DNA_replication2.95855493
5* MP0004957_abnormal_blastocyst_morpholog2.83782148
6MP0003077_abnormal_cell_cycle2.82560583
7MP0003123_paternal_imprinting2.80508253
8MP0010030_abnormal_orbit_morphology2.72575421
9MP0010352_gastrointestinal_tract_polyps2.71292660
10MP0000537_abnormal_urethra_morphology2.38117900
11MP0009053_abnormal_anal_canal2.35726378
12MP0003121_genomic_imprinting2.26737756
13MP0005076_abnormal_cell_differentiation2.14987550
14MP0001730_embryonic_growth_arrest2.04029542
15MP0000350_abnormal_cell_proliferation2.01861883
16MP0008932_abnormal_embryonic_tissue1.99027716
17MP0008007_abnormal_cellular_replicative1.95288389
18* MP0002084_abnormal_developmental_patter1.93116425
19MP0004197_abnormal_fetal_growth/weight/1.92255988
20MP0005380_embryogenesis_phenotype1.87712822
21MP0001672_abnormal_embryogenesis/_devel1.87712822
22* MP0002085_abnormal_embryonic_tissue1.85624333
23MP0008058_abnormal_DNA_repair1.84381909
24MP0001293_anophthalmia1.82516907
25MP0003890_abnormal_embryonic-extraembry1.80898163
26MP0008877_abnormal_DNA_methylation1.80611989
27MP0009379_abnormal_foot_pigmentation1.77504202
28MP0003937_abnormal_limbs/digits/tail_de1.76763665
29MP0003567_abnormal_fetal_cardiomyocyte1.76435454
30MP0003705_abnormal_hypodermis_morpholog1.75009324
31MP0001697_abnormal_embryo_size1.74978106
32MP0003984_embryonic_growth_retardation1.73067677
33MP0002088_abnormal_embryonic_growth/wei1.71374340
34MP0003119_abnormal_digestive_system1.68598754
35MP0010307_abnormal_tumor_latency1.65737082
36MP0009697_abnormal_copulation1.61567368
37MP0002396_abnormal_hematopoietic_system1.59774182
38MP0002009_preneoplasia1.57238696
39MP0002086_abnormal_extraembryonic_tissu1.56990414
40MP0003385_abnormal_body_wall1.55448910
41MP0003122_maternal_imprinting1.54681959
42MP0003941_abnormal_skin_development1.53881812
43MP0003315_abnormal_perineum_morphology1.49153862
44MP0000428_abnormal_craniofacial_morphol1.48043795
45* MP0002080_prenatal_lethality1.41638546
46MP0000049_abnormal_middle_ear1.38375568
47MP0002653_abnormal_ependyma_morphology1.36937976
48MP0003935_abnormal_craniofacial_develop1.36783284
49MP0002938_white_spotting1.36535973
50MP0004808_abnormal_hematopoietic_stem1.34805064
51MP0003942_abnormal_urinary_system1.32365325
52MP0002249_abnormal_larynx_morphology1.30299455
53MP0009703_decreased_birth_body1.30132331
54MP0003115_abnormal_respiratory_system1.29390889
55MP0000733_abnormal_muscle_development1.29247422
56MP0000569_abnormal_digit_pigmentation1.26355366
57MP0003755_abnormal_palate_morphology1.26187401
58MP0002092_abnormal_eye_morphology1.25677603
59MP0009672_abnormal_birth_weight1.25061513
60MP0002697_abnormal_eye_size1.24477213
61MP0000432_abnormal_head_morphology1.24188294
62MP0001849_ear_inflammation1.19830111
63MP0002111_abnormal_tail_morphology1.18071684
64MP0003718_maternal_effect1.17667842
65MP0002932_abnormal_joint_morphology1.17545282
66MP0001286_abnormal_eye_development1.16819812
67MP0004185_abnormal_adipocyte_glucose1.16367896
68MP0001299_abnormal_eye_distance/1.11775158
69MP0008789_abnormal_olfactory_epithelium1.11062273
70MP0005187_abnormal_penis_morphology1.10461168
71MP0002233_abnormal_nose_morphology1.09899733
72MP0000579_abnormal_nail_morphology1.07410462
73MP0002116_abnormal_craniofacial_bone1.07123363
74MP0000490_abnormal_crypts_of1.06905692
75* MP0003861_abnormal_nervous_system1.06861255
76MP0003787_abnormal_imprinting1.04327643
77MP0000313_abnormal_cell_death1.03687841
78MP0009278_abnormal_bone_marrow1.02733944
79MP0000566_synostosis1.02496723
80MP0009250_abnormal_appendicular_skeleto1.01357678
81MP0003136_yellow_coat_color1.00852572
82MP0003786_premature_aging1.00760043
83MP0005367_renal/urinary_system_phenotyp0.99471429
84MP0000516_abnormal_urinary_system0.99471429
85MP0001346_abnormal_lacrimal_gland0.97369108
86MP0000534_abnormal_ureter_morphology0.96995012
87MP0002282_abnormal_trachea_morphology0.95644225
88MP0002925_abnormal_cardiovascular_devel0.95446957
89MP0002114_abnormal_axial_skeleton0.94316437
90MP0004133_heterotaxia0.93670464
91MP0006054_spinal_hemorrhage0.93011031
92MP0001188_hyperpigmentation0.92746534
93MP0006292_abnormal_olfactory_placode0.92229812
94MP0005623_abnormal_meninges_morphology0.91258628
95MP0000762_abnormal_tongue_morphology0.89717526
96MP0004264_abnormal_extraembryonic_tissu0.87717845
97MP0001915_intracranial_hemorrhage0.87629756
98MP0002210_abnormal_sex_determination0.85053925
99MP0005248_abnormal_Harderian_gland0.84744530
100MP0003938_abnormal_ear_development0.83656690
101MP0002796_impaired_skin_barrier0.82452869
102MP0002019_abnormal_tumor_incidence0.82258589
103MP0003283_abnormal_digestive_organ0.81418619
104MP0002109_abnormal_limb_morphology0.80132764
105MP0003566_abnormal_cell_adhesion0.78238265
106MP0004233_abnormal_muscle_weight0.77763572
107MP0005499_abnormal_olfactory_system0.77514408
108MP0005394_taste/olfaction_phenotype0.77514408
109MP0002081_perinatal_lethality0.77330267
110MP0001145_abnormal_male_reproductive0.76396962
111MP0000703_abnormal_thymus_morphology0.75633073
112MP0005501_abnormal_skin_physiology0.75156187
113MP0003943_abnormal_hepatobiliary_system0.74897113
114MP0002751_abnormal_autonomic_nervous0.74597662
115MP0000778_abnormal_nervous_system0.72699243
116MP0002877_abnormal_melanocyte_morpholog0.71580470
117MP0002234_abnormal_pharynx_morphology0.71528933
118MP0003878_abnormal_ear_physiology0.69981519
119MP0005377_hearing/vestibular/ear_phenot0.69981519
120MP0010630_abnormal_cardiac_muscle0.69811168
121MP0002089_abnormal_postnatal_growth/wei0.69670424
122MP0001929_abnormal_gametogenesis0.68854110
123MP0000631_abnormal_neuroendocrine_gland0.67962458

Predicted human phenotypes

RankGene SetZ-score
1Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.88975940
2Short 4th metacarpal (HP:0010044)3.88975940
3Ependymoma (HP:0002888)3.17526864
4Volvulus (HP:0002580)3.12490098
5Medulloblastoma (HP:0002885)3.08834492
6Selective tooth agenesis (HP:0001592)3.02269880
7Abnormality of the 4th metacarpal (HP:0010012)2.95022816
8Increased nuchal translucency (HP:0010880)2.92666313
9Colon cancer (HP:0003003)2.85700624
10Cortical dysplasia (HP:0002539)2.84286203
11Abnormal number of incisors (HP:0011064)2.79292617
12Renal duplication (HP:0000075)2.75051759
13Proximal placement of thumb (HP:0009623)2.68731653
14Deviation of the thumb (HP:0009603)2.63276365
15Astrocytoma (HP:0009592)2.62213813
16Abnormality of the astrocytes (HP:0100707)2.62213813
17Hepatoblastoma (HP:0002884)2.54680554
18Abnormality of the labia minora (HP:0012880)2.54162105
19Rhabdomyosarcoma (HP:0002859)2.51537224
20Atresia of the external auditory canal (HP:0000413)2.43711704
21Ectopic kidney (HP:0000086)2.43702717
22Patellar aplasia (HP:0006443)2.40451228
23Long eyelashes (HP:0000527)2.40118040
24Chromsome breakage (HP:0040012)2.36263643
25Duplication of thumb phalanx (HP:0009942)2.36087829
26Neoplasm of striated muscle (HP:0009728)2.32403630
27Aplasia/Hypoplasia of the patella (HP:0006498)2.30676844
28Aplasia/Hypoplasia of the sternum (HP:0006714)2.29727874
29Abnormality of cells of the erythroid lineage (HP:0012130)2.28675363
30Glioma (HP:0009733)2.28166618
31Reticulocytopenia (HP:0001896)2.27421404
32Septo-optic dysplasia (HP:0100842)2.25765766
33Supernumerary ribs (HP:0005815)2.23244919
34Neoplasm of the oral cavity (HP:0100649)2.22183243
35Rib fusion (HP:0000902)2.21868502
36Broad thumb (HP:0011304)2.21687826
37Facial hemangioma (HP:0000329)2.20558979
38Overriding aorta (HP:0002623)2.19621042
39Multiple enchondromatosis (HP:0005701)2.19371127
40Trigonocephaly (HP:0000243)2.17811508
41Partial duplication of thumb phalanx (HP:0009944)2.14668099
42Hyperacusis (HP:0010780)2.11894645
43Missing ribs (HP:0000921)2.10295074
44Gastrointestinal carcinoma (HP:0002672)2.06453468
45Malignant gastrointestinal tract tumors (HP:0006749)2.06453468
46Supernumerary bones of the axial skeleton (HP:0009144)2.06176295
47Abnormality of the fingertips (HP:0001211)2.05685354
48Chromosomal breakage induced by crosslinking agents (HP:0003221)2.05329526
49Abnormality of cochlea (HP:0000375)2.03856806
50Overlapping toe (HP:0001845)2.01780683
51Shallow orbits (HP:0000586)1.99850488
52Macrocytic anemia (HP:0001972)1.98997744
5311 pairs of ribs (HP:0000878)1.98136185
54Facial cleft (HP:0002006)1.98119441
55Abnormality of the preputium (HP:0100587)1.97601931
56Skull defect (HP:0001362)1.95462504
57Degeneration of anterior horn cells (HP:0002398)1.94612573
58Abnormality of the anterior horn cell (HP:0006802)1.94612573
59Skin tags (HP:0010609)1.93587999
60Abdominal situs inversus (HP:0003363)1.91014440
61Abnormality of abdominal situs (HP:0011620)1.91014440
62High anterior hairline (HP:0009890)1.90865370
63Abnormality of the carotid arteries (HP:0005344)1.90482916
64Abnormality of chromosome stability (HP:0003220)1.90319882
65Spastic diplegia (HP:0001264)1.89514884
66Myelodysplasia (HP:0002863)1.89143079
67Triphalangeal thumb (HP:0001199)1.89108869
68Absent radius (HP:0003974)1.88509629
69Esophageal atresia (HP:0002032)1.87533185
70Renovascular hypertension (HP:0100817)1.87452075
71Horseshoe kidney (HP:0000085)1.87327677
72Abnormal lung lobation (HP:0002101)1.87179267
73Meckel diverticulum (HP:0002245)1.86879588
74Broad phalanges of the hand (HP:0009768)1.86365760
75Urethral obstruction (HP:0000796)1.86332691
76Aplasia/Hypoplasia of the sacrum (HP:0008517)1.86180228
77Neoplasm of the adrenal cortex (HP:0100641)1.85878224
78Preauricular skin tag (HP:0000384)1.83946267
79Basal cell carcinoma (HP:0002671)1.83461678
80Prominent nose (HP:0000448)1.83073822
81Short 5th finger (HP:0009237)1.82583696
82Partial duplication of the phalanx of hand (HP:0009999)1.82502165
83Broad palm (HP:0001169)1.82207961
84Abnormality of the septum pellucidum (HP:0007375)1.81114923
85Abnormality of the calcaneus (HP:0008364)1.81043945
86Embryonal neoplasm (HP:0002898)1.80719681
87Diastasis recti (HP:0001540)1.80378218
88Abnormality of the ileum (HP:0001549)1.80329105
89Pseudobulbar signs (HP:0002200)1.79488906
90Shawl scrotum (HP:0000049)1.79472783
91Acute myeloid leukemia (HP:0004808)1.79327256
92Elfin facies (HP:0004428)1.78832658
93Supernumerary spleens (HP:0009799)1.78407321
94Birth length less than 3rd percentile (HP:0003561)1.78341139
95Impulsivity (HP:0100710)1.77708890
96Nephroblastoma (Wilms tumor) (HP:0002667)1.77330563
97Deep palmar crease (HP:0006191)1.77209777
98Absent forearm bone (HP:0003953)1.76154858
99Aplasia involving forearm bones (HP:0009822)1.76154858
100Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.74945581
101Partial agenesis of the corpus callosum (HP:0001338)1.74894787
102Abnormality of the parietal bone (HP:0002696)1.74714852
103Biliary tract neoplasm (HP:0100574)1.74388543
104Cutis marmorata (HP:0000965)1.74197284
105Anal stenosis (HP:0002025)1.73729037
106Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.73654635
107Short 1st metacarpal (HP:0010034)1.73654635
108Oligodactyly (HP:0012165)1.73626477
109Abnormality of the duodenum (HP:0002246)1.73368984
110Short middle phalanx of the 5th finger (HP:0004220)1.72990328
111Bilateral microphthalmos (HP:0007633)1.72966929
112Syringomyelia (HP:0003396)1.72006424
113Spinal cord lesions (HP:0100561)1.72006424
114Deep philtrum (HP:0002002)1.71445953
115Abnormality of the phalanges of the hallux (HP:0010057)1.71123584
116Obsessive-compulsive behavior (HP:0000722)1.70892652
117Short phalanx of the thumb (HP:0009660)1.70792263
118Intestinal fistula (HP:0100819)1.70643105
119Insomnia (HP:0100785)1.70492797
120Broad finger (HP:0001500)1.70407968
121Abnormal number of erythroid precursors (HP:0012131)1.69966612
122Aplasia/Hypoplasia of the uvula (HP:0010293)1.67527807
123Omphalocele (HP:0001539)1.67498069
124Cafe-au-lait spot (HP:0000957)1.66981541
125Embryonal renal neoplasm (HP:0011794)1.66722815
126Pallor (HP:0000980)1.66461100
127Neoplasm of the pancreas (HP:0002894)1.65549330
128High pitched voice (HP:0001620)1.65452773
129Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.64858427
130Pelvic girdle muscle weakness (HP:0003749)1.64636000
131Abnormality of the diencephalon (HP:0010662)1.64468726
132Small intestinal stenosis (HP:0012848)1.64262440
133Duodenal stenosis (HP:0100867)1.64262440
134Increased number of teeth (HP:0011069)1.63924655
135Rectal prolapse (HP:0002035)1.63557801
136Acute lymphatic leukemia (HP:0006721)1.63552874
137Short middle phalanx of finger (HP:0005819)1.63145910
138Choanal atresia (HP:0000453)1.62640656
139Arnold-Chiari malformation (HP:0002308)1.62473173
140Abnormal hair whorl (HP:0010721)1.62314221
141Hypospadias (HP:0000047)1.61357423
142Abnormality of the distal phalanx of the thumb (HP:0009617)1.61300572
143Hypoplastic labia majora (HP:0000059)1.60633006
144Abnormality of the antihelix (HP:0009738)1.60091668
145Abnormality of the lacrimal duct (HP:0011481)1.58586219
146Choanal stenosis (HP:0000452)1.57832384

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC74.78025549
2CDK124.37634243
3WEE12.73831729
4MKNK12.63966001
5MAP3K102.63541864
6NEK22.58943454
7EEF2K2.58891913
8SMG12.50557273
9SRPK12.36650992
10TAF12.35563682
11BRD42.19388392
12TTK2.18441922
13BUB12.05576464
14VRK22.05412618
15LATS12.04499686
16MKNK22.02294157
17CDK71.88802972
18RPS6KB21.84873493
19TSSK61.81278074
20PASK1.80920963
21ATR1.78705412
22CDK41.64680790
23NEK11.62673070
24PKN21.59973393
25PLK31.58953453
26PLK11.58765301
27CHEK21.50480702
28CHEK11.50406365
29STK31.45656164
30AURKB1.45315904
31CDK61.42875961
32TNIK1.42138033
33PBK1.41600479
34ACVR1B1.39407392
35MTOR1.33042447
36ALK1.33028729
37LATS21.31234387
38TGFBR11.26865445
39MAP3K81.25577593
40ATM1.21064554
41DYRK31.20637407
42PDGFRA1.19239389
43PNCK1.18933223
44STK101.18408747
45BRSK21.17059989
46* CDK21.16211882
47EIF2AK11.15393602
48ZAK1.13127073
49TLK11.12495639
50PAK41.11986245
51ICK1.02697186
52STK41.02223525
53FGFR11.01441249
54RPS6KA41.00679769
55EPHA21.00147870
56SCYL20.99662634
57EPHB20.97062024
58* CDK10.88636270
59TRIB30.86284916
60PAK20.85662829
61PLK40.84072187
62CAMK1D0.81564305
63STK240.80640669
64MELK0.79296156
65NME10.78673383
66AURKA0.78612722
67PTK60.78600935
68STK38L0.75550175
69CSNK1E0.71792296
70CAMK1G0.69618088
71STK160.67255434
72LRRK20.66330901
73NUAK10.64681336
74TESK20.64672220
75BRAF0.63944965
76EIF2AK20.62629659
77CDK30.62293434
78PIM10.62159611
79AKT20.61331457
80CSNK1D0.60750557
81CDK90.60710695
82CDK80.60287355
83VRK10.59993092
84KSR10.59505901
85PRKDC0.59481230
86ERBB30.59390412
87RIPK10.59302502
88FGFR40.59106564
89ERBB20.59025260
90* MAPK140.57971792
91CSNK2A20.57847979
92BRSK10.56762734
93DYRK20.56663755
94TYRO30.55226856
95CLK10.53077958
96DDR20.52975825
97TTN0.52722562
98BMX0.50733642
99CDK190.49722720
100FLT30.46240450
101* GSK3B0.45572466
102* AKT10.43273136
103WNK10.43207771
104MAPK10.42267744
105PRKCI0.41331226
106YES10.41244910
107PAK10.41242897
108CDK11A0.40182192
109PDGFRB0.39602588
110CSNK2A10.39160541
111RPS6KA10.38297148
112CSNK1A1L0.37198049
113NLK0.36111272
114FGFR20.35612137
115MAP3K90.35353568
116CDK150.35282057
117DYRK1B0.34648069
118ERBB40.34445177
119MAPK90.33064404
120CDK180.32636758
121FGFR30.32613090
122CHUK0.32605487
123RPS6KB10.30949210
124MET0.29943357
125MAPK100.29797163
126DMPK0.28756666
127EIF2AK30.27103253

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.01594851
2Mismatch repair_Homo sapiens_hsa034303.65151533
3Spliceosome_Homo sapiens_hsa030403.34739981
4RNA transport_Homo sapiens_hsa030133.13525556
5Cell cycle_Homo sapiens_hsa041103.10105182
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.89661593
7Base excision repair_Homo sapiens_hsa034102.52309559
8mRNA surveillance pathway_Homo sapiens_hsa030152.51109037
9One carbon pool by folate_Homo sapiens_hsa006702.46922504
10Homologous recombination_Homo sapiens_hsa034402.39958938
11Nucleotide excision repair_Homo sapiens_hsa034202.27062683
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.07466348
13Fanconi anemia pathway_Homo sapiens_hsa034602.00453172
14Ribosome_Homo sapiens_hsa030101.98788939
15Basal cell carcinoma_Homo sapiens_hsa052171.96708416
16Non-homologous end-joining_Homo sapiens_hsa034501.79257079
17RNA degradation_Homo sapiens_hsa030181.74430035
18MicroRNAs in cancer_Homo sapiens_hsa052061.68776069
19RNA polymerase_Homo sapiens_hsa030201.67071864
20Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.60805652
21Hippo signaling pathway_Homo sapiens_hsa043901.59052727
22p53 signaling pathway_Homo sapiens_hsa041151.59027845
23Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.48353702
24Basal transcription factors_Homo sapiens_hsa030221.42584693
25Hedgehog signaling pathway_Homo sapiens_hsa043401.42472127
26Notch signaling pathway_Homo sapiens_hsa043301.38163541
27Pyrimidine metabolism_Homo sapiens_hsa002401.33948790
28Colorectal cancer_Homo sapiens_hsa052101.33626557
29Adherens junction_Homo sapiens_hsa045201.32642134
30Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.32566918
31Cysteine and methionine metabolism_Homo sapiens_hsa002701.31797893
32Chronic myeloid leukemia_Homo sapiens_hsa052201.30862574
33Oocyte meiosis_Homo sapiens_hsa041141.30505085
34Viral carcinogenesis_Homo sapiens_hsa052031.29426269
35HTLV-I infection_Homo sapiens_hsa051661.29379978
36Thyroid cancer_Homo sapiens_hsa052161.27659036
37TGF-beta signaling pathway_Homo sapiens_hsa043501.27247972
38Small cell lung cancer_Homo sapiens_hsa052221.20936338
39Systemic lupus erythematosus_Homo sapiens_hsa053221.16852997
40Transcriptional misregulation in cancer_Homo sapiens_hsa052021.14570411
41Lysine degradation_Homo sapiens_hsa003101.12394038
42Wnt signaling pathway_Homo sapiens_hsa043101.09087525
43Epstein-Barr virus infection_Homo sapiens_hsa051691.07907298
44Bladder cancer_Homo sapiens_hsa052191.00369630
45Endometrial cancer_Homo sapiens_hsa052131.00009375
46Proteoglycans in cancer_Homo sapiens_hsa052050.97692077
47Herpes simplex infection_Homo sapiens_hsa051680.95583640
48Prostate cancer_Homo sapiens_hsa052150.93834306
49Viral myocarditis_Homo sapiens_hsa054160.92719851
50Pathways in cancer_Homo sapiens_hsa052000.89949449
51mTOR signaling pathway_Homo sapiens_hsa041500.89452528
52Non-small cell lung cancer_Homo sapiens_hsa052230.89135974
53Antigen processing and presentation_Homo sapiens_hsa046120.81631894
54Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81621427
55Carbon metabolism_Homo sapiens_hsa012000.79286359
56Central carbon metabolism in cancer_Homo sapiens_hsa052300.78455310
57Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.78108428
58Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.77371210
59Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.74838263
60Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.74254609
61Pyruvate metabolism_Homo sapiens_hsa006200.72710945
62Proteasome_Homo sapiens_hsa030500.72592753
63Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.72452228
64Tight junction_Homo sapiens_hsa045300.70993481
65Pancreatic cancer_Homo sapiens_hsa052120.68992443
66Alcoholism_Homo sapiens_hsa050340.68011029
67Hepatitis B_Homo sapiens_hsa051610.66424956
68Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.66065280
69Melanoma_Homo sapiens_hsa052180.65304745
70Steroid biosynthesis_Homo sapiens_hsa001000.64460187
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.62953447
72Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.62660365
73Glioma_Homo sapiens_hsa052140.62309757
74Acute myeloid leukemia_Homo sapiens_hsa052210.62288825
75Selenocompound metabolism_Homo sapiens_hsa004500.61306082
76Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.60419111
77Focal adhesion_Homo sapiens_hsa045100.58566483
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.58109884
79Protein export_Homo sapiens_hsa030600.56121745
80Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.55057116
81Renal cell carcinoma_Homo sapiens_hsa052110.52198589
82Melanogenesis_Homo sapiens_hsa049160.50842695
83Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.50746676
84FoxO signaling pathway_Homo sapiens_hsa040680.50708928
85Purine metabolism_Homo sapiens_hsa002300.48963553
86PI3K-Akt signaling pathway_Homo sapiens_hsa041510.48945172
87Pentose phosphate pathway_Homo sapiens_hsa000300.47399255
88Apoptosis_Homo sapiens_hsa042100.45322245
89AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.44817414
90Regulation of actin cytoskeleton_Homo sapiens_hsa048100.44406249
91Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.42235420
92ECM-receptor interaction_Homo sapiens_hsa045120.40947829
93Leukocyte transendothelial migration_Homo sapiens_hsa046700.40618180
94HIF-1 signaling pathway_Homo sapiens_hsa040660.40362769
95Axon guidance_Homo sapiens_hsa043600.39475819
96Huntingtons disease_Homo sapiens_hsa050160.39210038
97Shigellosis_Homo sapiens_hsa051310.38033520
98N-Glycan biosynthesis_Homo sapiens_hsa005100.37015457
99ErbB signaling pathway_Homo sapiens_hsa040120.34106103
100Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33573198
101Rap1 signaling pathway_Homo sapiens_hsa040150.31189962
102Propanoate metabolism_Homo sapiens_hsa006400.31177596
103Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.30631795
104Dorso-ventral axis formation_Homo sapiens_hsa043200.29854777
105AMPK signaling pathway_Homo sapiens_hsa041520.29616818
106T cell receptor signaling pathway_Homo sapiens_hsa046600.29247915
107Longevity regulating pathway - mammal_Homo sapiens_hsa042110.26747601
108Estrogen signaling pathway_Homo sapiens_hsa049150.26191374
109Vitamin B6 metabolism_Homo sapiens_hsa007500.25937984
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25003322
111Biosynthesis of amino acids_Homo sapiens_hsa012300.24946493
112Insulin signaling pathway_Homo sapiens_hsa049100.24675448
113Prolactin signaling pathway_Homo sapiens_hsa049170.23975528
114VEGF signaling pathway_Homo sapiens_hsa043700.21900282
115Measles_Homo sapiens_hsa051620.21679166
116Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.21294995
117Fatty acid biosynthesis_Homo sapiens_hsa000610.20568139
118Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.20347789
119Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.19470851
120Choline metabolism in cancer_Homo sapiens_hsa052310.18749780
121Thyroid hormone synthesis_Homo sapiens_hsa049180.18209687
122Glucagon signaling pathway_Homo sapiens_hsa049220.18169744
123Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.17996008

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