ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	actin-mediated cell contraction (GO:0070252)	9.35280472
2	skeletal muscle contraction (GO:0003009)	8.71418372
3	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	8.33624915
4	synapsis (GO:0007129)	7.49752250
5	negative regulation of potassium ion transmembrane transport (GO:1901380)	7.46624654
6	plasma membrane fusion (GO:0045026)	6.93066107
7	actin filament-based movement (GO:0030048)	6.88284748
8	musculoskeletal movement (GO:0050881)	6.77688784
9	multicellular organismal movement (GO:0050879)	6.77688784
10	male meiosis I (GO:0007141)	6.70194740
11	myoblast fusion (GO:0007520)	6.27753609
12	striated muscle contraction (GO:0006941)	6.27417832
13	response to inactivity (GO:0014854)	6.09236693
14	positive regulation of myoblast differentiation (GO:0045663)	5.99963334
15	regulation of sarcomere organization (GO:0060297)	5.98385635
16	positive regulation of myotube differentiation (GO:0010831)	5.73013696
17	chromosome organization involved in meiosis (GO:0070192)	5.70432299
18	meiosis I (GO:0007127)	5.54920862
19	syncytium formation by plasma membrane fusion (GO:0000768)	5.38402227
20	striated muscle atrophy (GO:0014891)	5.38114067
21	regulation of skeletal muscle contraction (GO:0014819)	5.35976291
22	muscle cell fate commitment (GO:0042693)	5.10464616
23	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	5.09214691
24	cardiac muscle contraction (GO:0060048)	5.07525240
25	muscle atrophy (GO:0014889)	4.98309144
26	syncytium formation (GO:0006949)	4.90258978
27	male meiosis (GO:0007140)	4.86873648
28	myofibril assembly (GO:0030239)	4.86782911
29	cardiac myofibril assembly (GO:0055003)	4.85046082
30	negative regulation of protein localization to cell surface (GO:2000009)	4.83647423
31	sarcomere organization (GO:0045214)	4.78984403
32	sarcoplasmic reticulum calcium ion transport (GO:0070296)	4.67566666
33	piRNA metabolic process (GO:0034587)	4.67364316
34	regulation of relaxation of muscle (GO:1901077)	4.60646269
35	synaptonemal complex assembly (GO:0007130)	4.55854452
36	skeletal muscle tissue development (GO:0007519)	4.42192011
37	meiotic nuclear division (GO:0007126)	4.40773762
38	muscle cell cellular homeostasis (GO:0046716)	4.30557954
39	cardiac muscle cell development (GO:0055013)	4.29642994
40	synaptonemal complex organization (GO:0070193)	4.25984084
41	response to pheromone (GO:0019236)	4.15948058
42	regulation of striated muscle contraction (GO:0006942)	4.06926944
43	muscle organ development (GO:0007517)	4.03998203
44	muscle structure development (GO:0061061)	4.03254985
45	cardiac cell development (GO:0055006)	4.00144841
46	muscle contraction (GO:0006936)	3.96545261
47	skeletal muscle fiber development (GO:0048741)	3.96343470
48	plasma membrane repair (GO:0001778)	3.93933484
49	acrosome reaction (GO:0007340)	3.85471648
50	positive regulation of skeletal muscle tissue development (GO:0048643)	3.85138444
51	response to muscle activity (GO:0014850)	3.83200380
52	cardiac muscle hypertrophy (GO:0003300)	3.81471940
53	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	3.77548038
54	myotube cell development (GO:0014904)	3.74549952
55	muscle system process (GO:0003012)	3.67813617
56	regulation of myoblast differentiation (GO:0045661)	3.62356352
57	regulation of DNA endoreduplication (GO:0032875)	3.60199305
58	striated muscle hypertrophy (GO:0014897)	3.59062180
59	reciprocal meiotic recombination (GO:0007131)	3.58959999
60	reciprocal DNA recombination (GO:0035825)	3.58959999
61	actomyosin structure organization (GO:0031032)	3.54884658
62	fusion of sperm to egg plasma membrane (GO:0007342)	3.53738630
63	DNA synthesis involved in DNA repair (GO:0000731)	3.53357092
64	histone H3-K9 demethylation (GO:0033169)	3.52805812
65	striated muscle adaptation (GO:0014888)	3.49984004
66	negative regulation of potassium ion transport (GO:0043267)	3.48783013
67	regulation of acyl-CoA biosynthetic process (GO:0050812)	3.47551292
68	sperm motility (GO:0030317)	3.47223254
69	regulation of cell communication by electrical coupling (GO:0010649)	3.46968916
70	sperm capacitation (GO:0048240)	3.45499441
71	protein targeting to Golgi (GO:0000042)	3.43267772
72	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	3.42730255
73	regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)	3.40815198
74	establishment of protein localization to Golgi (GO:0072600)	3.40763253
75	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	3.40681291
76	meiotic cell cycle process (GO:1903046)	3.39400260
77	DNA methylation involved in gamete generation (GO:0043046)	3.35754643
78	regulation of skeletal muscle fiber development (GO:0048742)	3.35717873
79	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	3.34553785
80	striated muscle cell development (GO:0055002)	3.33123211
81	muscle fiber development (GO:0048747)	3.25540750
82	striated muscle tissue development (GO:0014706)	3.23251721
83	spermatid development (GO:0007286)	3.19279954
84	retrograde transport, vesicle recycling within Golgi (GO:0000301)	3.14800740
85	regulation of meiosis I (GO:0060631)	3.13186462
86	positive regulation of striated muscle cell differentiation (GO:0051155)	3.12406149
87	muscle hypertrophy (GO:0014896)	3.11905653
88	synaptic transmission, cholinergic (GO:0007271)	3.07059981
89	regulation of ATPase activity (GO:0043462)	3.06654462
90	regulation of ATP catabolic process (GO:1903289)	3.06654462
91	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	3.06127212
92	regulation of membrane repolarization (GO:0060306)	3.04050799
93	skeletal muscle tissue regeneration (GO:0043403)	3.03149719
94	regulation of cytokine production involved in inflammatory response (GO:1900015)	3.01265799
95	regulation of coenzyme metabolic process (GO:0051196)	2.99481845
96	regulation of cofactor metabolic process (GO:0051193)	2.99481845
97	DNA packaging (GO:0006323)	2.99200169
98	cardiac muscle tissue morphogenesis (GO:0055008)	2.98898764
99	actin-myosin filament sliding (GO:0033275)	11.0406340
100	muscle filament sliding (GO:0030049)	11.0406340

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GATA1_22025678_ChIP-Seq_K562_Human	6.73449711
2	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.16729132
3	ZNF274_21170338_ChIP-Seq_K562_Hela	2.84066831
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.81398953
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.70763485
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.54843555
7	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.43086409
8	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.36434673
9	FUS_26573619_Chip-Seq_HEK293_Human	2.35958748
10	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.29376935
11	CBP_20019798_ChIP-Seq_JUKART_Human	2.06810121
12	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	2.06810121
13	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.99273391
14	P300_19829295_ChIP-Seq_ESCs_Human	1.95619483
15	TAF15_26573619_Chip-Seq_HEK293_Human	1.87043199
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.80497033
17	VDR_22108803_ChIP-Seq_LS180_Human	1.77001928
18	ER_23166858_ChIP-Seq_MCF-7_Human	1.74348124
19	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.74138485
20	SMAD4_21799915_ChIP-Seq_A2780_Human	1.68406345
21	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.67798741
22	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.58184705
23	BCAT_22108803_ChIP-Seq_LS180_Human	1.56897717
24	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.55933301
25	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.54972111
26	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.54853097
27	GBX2_23144817_ChIP-Seq_PC3_Human	1.52928757
28	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.52432658
29	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.52432658
30	EZH2_22144423_ChIP-Seq_EOC_Human	1.51224714
31	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.50744920
32	HTT_18923047_ChIP-ChIP_STHdh_Human	1.50193570
33	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.50005823
34	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.49922701
35	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.47118613
36	SOX2_19829295_ChIP-Seq_ESCs_Human	1.46683184
37	NANOG_19829295_ChIP-Seq_ESCs_Human	1.46683184
38	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.43323947
39	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.43224054
40	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.42410698
41	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.40918742
42	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.40396647
43	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.39914003
44	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.38695758
45	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.38634396
46	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.38503563
47	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.37463379
48	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.37178255
49	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.36505001
50	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.35778899
51	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.34693617
52	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.33303893
53	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.32267896
54	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.31816409
55	STAT3_23295773_ChIP-Seq_U87_Human	1.31159094
56	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.30947350
57	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.30421546
58	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.30396468
59	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.28801172
60	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.28505190
61	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.23398691
62	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.23084348
63	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.21540990
64	TCF4_22108803_ChIP-Seq_LS180_Human	1.21186775
65	P53_22387025_ChIP-Seq_ESCs_Mouse	1.21100439
66	OCT4_18555785_Chip-Seq_ESCs_Mouse	1.19805987
67	RNF2_27304074_Chip-Seq_NSC_Mouse	1.19263347
68	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.19078728
69	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.18257592
70	TCF4_23295773_ChIP-Seq_U87_Human	1.17559094
71	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.17191621
72	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.17154328
73	ZFX_18555785_Chip-Seq_ESCs_Mouse	1.16021757
74	TP53_18474530_ChIP-ChIP_U2OS_Human	1.15852202
75	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.13541165
76	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.12763911
77	RUNX1_27457419_Chip-Seq_LIVER_Mouse	1.12613481
78	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.11005300
79	RUNX2_22187159_ChIP-Seq_PCA_Human	1.10429523
80	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.09916360
81	AR_25329375_ChIP-Seq_VCAP_Human	1.09825609
82	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.09579867
83	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.09192623
84	P300_18555785_Chip-Seq_ESCs_Mouse	1.09154444
85	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.09095609
86	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.08584478
87	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.08297405
88	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.08160971
89	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.07298463
90	OCT4_20526341_ChIP-Seq_ESCs_Human	1.06889188
91	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.06880141
92	KDM2B_26808549_Chip-Seq_REH_Human	1.06155412
93	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.05652869
94	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.04268682
95	CDX2_22108803_ChIP-Seq_LS180_Human	1.03547404
96	GATA3_26560356_Chip-Seq_TH1_Human	1.03168381
97	KLF4_18555785_Chip-Seq_ESCs_Mouse	1.02357335
98	* MYC_19829295_ChIP-Seq_ESCs_Human	0.98388940
99	ERG_20517297_ChIP-Seq_VCAP_Human	0.97634238
100	CMYC_18555785_Chip-Seq_ESCs_Mouse	0.97144505

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000749_muscle_degeneration	6.27191812
2	MP0004084_abnormal_cardiac_muscle	5.18709129
3	MP0004145_abnormal_muscle_electrophysio	4.21150369
4	MP0004036_abnormal_muscle_relaxation	3.98003266
5	MP0000751_myopathy	3.95863574
6	MP0004484_altered_response_of	3.73233857
7	MP0003950_abnormal_plasma_membrane	3.46676430
8	MP0005330_cardiomyopathy	2.98725602
9	MP0002837_dystrophic_cardiac_calcinosis	2.95694851
10	MP0004215_abnormal_myocardial_fiber	2.81335788
11	MP0002269_muscular_atrophy	2.79019287
12	MP0004087_abnormal_muscle_fiber	2.62227919
13	MP0000759_abnormal_skeletal_muscle	2.61930711
14	MP0005620_abnormal_muscle_contractility	2.61511659
15	MP0003878_abnormal_ear_physiology	2.59578314
16	MP0005377_hearing/vestibular/ear_phenot	2.59578314
17	MP0004233_abnormal_muscle_weight	2.45388719
18	MP0002972_abnormal_cardiac_muscle	2.44541632
19	MP0000747_muscle_weakness	2.43169706
20	MP0005410_abnormal_fertilization	2.42852036
21	MP0002106_abnormal_muscle_physiology	2.30171462
22	MP0002822_catalepsy	2.30133334
23	MP0004270_analgesia	2.21468928
24	MP0008877_abnormal_DNA_methylation	2.15175556
25	MP0005369_muscle_phenotype	2.10977515
26	MP0002108_abnormal_muscle_morphology	2.00051132
27	MP0000733_abnormal_muscle_development	1.95967693
28	MP0000750_abnormal_muscle_regeneration	1.85569527
29	MP0008775_abnormal_heart_ventricle	1.76785168
30	MP0010630_abnormal_cardiac_muscle	1.68423932
31	MP0001929_abnormal_gametogenesis	1.64104983
32	MP0002160_abnormal_reproductive_system	1.54487240
33	MP0004510_myositis	1.53089012
34	MP0003698_abnormal_male_reproductive	1.48039733
35	MP0002127_abnormal_cardiovascular_syste	1.44428110
36	MP0003646_muscle_fatigue	1.44294540
37	MP0003137_abnormal_impulse_conducting	1.43881373
38	MP0002210_abnormal_sex_determination	1.38772125
39	MP0009697_abnormal_copulation	1.33468518
40	MP0010030_abnormal_orbit_morphology	1.29519413
41	MP0004085_abnormal_heartbeat	1.27448249
42	MP0005385_cardiovascular_system_phenoty	1.27344621
43	MP0001544_abnormal_cardiovascular_syste	1.27344621
44	MP0002332_abnormal_exercise_endurance	1.24258814
45	MP0003828_pulmonary_edema	1.23063381
46	MP0002102_abnormal_ear_morphology	1.18226477
47	MP0002132_abnormal_respiratory_system	1.11512417
48	MP0002249_abnormal_larynx_morphology	1.09498977
49	MP0003567_abnormal_fetal_cardiomyocyte	1.03315577
50	MP0001485_abnormal_pinna_reflex	1.03210930
51	MP0001542_abnormal_bone_strength	1.02923205
52	MP0001145_abnormal_male_reproductive	1.02252295
53	MP0000653_abnormal_sex_gland	1.01716841
54	MP0004147_increased_porphyrin_level	1.00690330
55	MP0005670_abnormal_white_adipose	0.97999055
56	MP0001986_abnormal_taste_sensitivity	0.94874457
57	MP0006036_abnormal_mitochondrial_physio	0.92200185
58	MP0000372_irregular_coat_pigmentation	0.89817348
59	MP0005389_reproductive_system_phenotype	0.88644490
60	MP0003122_maternal_imprinting	0.86511264
61	MP0002971_abnormal_brown_adipose	0.79688025
62	MP0008789_abnormal_olfactory_epithelium	0.79122098
63	MP0001299_abnormal_eye_distance/	0.77650146
64	MP0003121_genomic_imprinting	0.73114805
65	MP0008995_early_reproductive_senescence	0.71911587
66	MP0002138_abnormal_hepatobiliary_system	0.71817533
67	MP0005266_abnormal_metabolism	0.70966481
68	MP0001486_abnormal_startle_reflex	0.70911534
69	MP0000266_abnormal_heart_morphology	0.67979629
70	MP0005248_abnormal_Harderian_gland	0.67314357
71	MP0005275_abnormal_skin_tensile	0.65913356
72	MP0008004_abnormal_stomach_pH	0.65734124
73	MP0003221_abnormal_cardiomyocyte_apopto	0.65499153
74	MP0003718_maternal_effect	0.64209469
75	MP0002161_abnormal_fertility/fecundity	0.60612002
76	MP0003941_abnormal_skin_development	0.59662154
77	MP0005187_abnormal_penis_morphology	0.56742081
78	MP0000647_abnormal_sebaceous_gland	0.55937398
79	MP0006276_abnormal_autonomic_nervous	0.55397271
80	MP0001119_abnormal_female_reproductive	0.54084360
81	MP0003656_abnormal_erythrocyte_physiolo	0.53684583
82	MP0002734_abnormal_mechanical_nocicepti	0.53250277
83	MP0003115_abnormal_respiratory_system	0.52907965
84	MP0008058_abnormal_DNA_repair	0.51717475
85	MP0000569_abnormal_digit_pigmentation	0.50778331
86	MP0006054_spinal_hemorrhage	0.49888607
87	MP0004264_abnormal_extraembryonic_tissu	0.47938316
88	MP0002114_abnormal_axial_skeleton	0.47266006
89	MP0000230_abnormal_systemic_arterial	0.45666484
90	MP0000427_abnormal_hair_cycle	0.44574001
91	MP0010678_abnormal_skin_adnexa	0.43698047
92	MP0005551_abnormal_eye_electrophysiolog	0.43062909
93	MP0000383_abnormal_hair_follicle	0.42571845
94	MP0000762_abnormal_tongue_morphology	0.41282196
95	MP0005165_increased_susceptibility_to	0.39359304
96	MP0003385_abnormal_body_wall	0.39152162
97	MP0001661_extended_life_span	0.37740918
98	MP0005395_other_phenotype	0.37601102
99	MP0000678_abnormal_parathyroid_gland	0.37564601
100	MP0008438_abnormal_cutaneous_collagen	0.37467109

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Popliteal pterygium (HP:0009756)	9.92635910
2	Amniotic constriction ring (HP:0009775)	7.96095762
3	Abnormality of placental membranes (HP:0011409)	7.96095762
4	Type 2 muscle fiber atrophy (HP:0003554)	7.59439784
5	Distal arthrogryposis (HP:0005684)	7.57821602
6	Fetal akinesia sequence (HP:0001989)	7.13373479
7	Muscle fiber atrophy (HP:0100295)	6.70910216
8	Round ear (HP:0100830)	6.46027998
9	Aplasia of the musculature (HP:0100854)	6.43256735
10	Ulnar deviation of the wrist (HP:0003049)	6.31890068
11	Malignant hyperthermia (HP:0002047)	5.73796137
12	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	5.49023952
13	Fatigable weakness (HP:0003473)	5.48495820
14	Abnormality of the neuromuscular junction (HP:0003398)	5.48495820
15	Weak cry (HP:0001612)	5.34494753
16	Calf muscle hypertrophy (HP:0008981)	5.23388239
17	Calcaneovalgus deformity (HP:0001848)	5.22182505
18	Hyporeflexia of lower limbs (HP:0002600)	5.14474118
19	Muscle fiber inclusion bodies (HP:0100299)	4.94242214
20	Nemaline bodies (HP:0003798)	4.73933495
21	Akinesia (HP:0002304)	4.65911772
22	Deformed tarsal bones (HP:0008119)	4.62995088
23	Muscle hypertrophy of the lower extremities (HP:0008968)	4.62691976
24	Absent phalangeal crease (HP:0006109)	4.61496739
25	Gowers sign (HP:0003391)	4.27458963
26	Aplasia/Hypoplasia involving the musculature (HP:0001460)	4.23232146
27	Pterygium (HP:0001059)	4.08570425
28	Asymmetric septal hypertrophy (HP:0001670)	4.04949763
29	Thin ribs (HP:0000883)	4.01720276
30	Abnormal finger flexion creases (HP:0006143)	3.95159091
31	Easy fatigability (HP:0003388)	3.71316764
32	Muscle fiber splitting (HP:0003555)	3.70874491
33	Sudden death (HP:0001699)	3.64569110
34	Abnormality of the calf musculature (HP:0001430)	3.55123729
35	Areflexia of lower limbs (HP:0002522)	3.40409323
36	Cystic hygroma (HP:0000476)	3.38941332
37	Abnormality of the calcaneus (HP:0008364)	3.35491160
38	Hypoplastic heart (HP:0001961)	3.24228480
39	Distal lower limb muscle weakness (HP:0009053)	3.18887141
40	Type 1 muscle fiber predominance (HP:0003803)	2.87704608
41	Neck muscle weakness (HP:0000467)	2.87652821
42	Ventricular tachycardia (HP:0004756)	2.65916354
43	EMG: neuropathic changes (HP:0003445)	2.65818946
44	Webbed neck (HP:0000465)	2.64566337
45	EMG: myopathic abnormalities (HP:0003458)	2.63777419
46	Bulbar palsy (HP:0001283)	2.63382345
47	Exercise-induced myalgia (HP:0003738)	2.62556469
48	Bundle branch block (HP:0011710)	2.61362709
49	Exercise-induced muscle cramps (HP:0003710)	2.49781564
50	Rimmed vacuoles (HP:0003805)	2.44483441
51	Abnormalities of placenta or umbilical cord (HP:0001194)	2.39747027
52	Poor suck (HP:0002033)	2.38228182
53	Diminished movement (HP:0002374)	2.35368300
54	Subaortic stenosis (HP:0001682)	2.32818167
55	Abnormality of the left ventricular outflow tract (HP:0011103)	2.32818167
56	Generalized muscle weakness (HP:0003324)	2.31634061
57	Hip contracture (HP:0003273)	2.26465995
58	Metatarsus adductus (HP:0001840)	2.14961587
59	Respiratory insufficiency due to muscle weakness (HP:0002747)	2.11551517
60	Atrial fibrillation (HP:0005110)	2.07797312
61	Depressed nasal tip (HP:0000437)	2.05530473
62	Breech presentation (HP:0001623)	1.99717970
63	Left ventricular hypertrophy (HP:0001712)	1.90979729
64	Trismus (HP:0000211)	1.89670800
65	Proximal tubulopathy (HP:0000114)	1.89026818
66	Lipoatrophy (HP:0100578)	1.86871451
67	Primary atrial arrhythmia (HP:0001692)	1.85296440
68	Supraventricular tachycardia (HP:0004755)	1.78403204
69	Decreased muscle mass (HP:0003199)	1.77671421
70	Supraventricular arrhythmia (HP:0005115)	1.72514543
71	Nonprogressive disorder (HP:0003680)	1.69709536
72	Arthrogryposis multiplex congenita (HP:0002804)	1.69303708
73	Short thorax (HP:0010306)	1.67125244
74	Spontaneous abortion (HP:0005268)	1.65824218
75	Ulnar deviation of the hand or of fingers of the hand (HP:0001193)	1.65015010
76	Pulmonary hypoplasia (HP:0002089)	1.63547728
77	Limb-girdle muscle weakness (HP:0003325)	1.60407716
78	Increased serum pyruvate (HP:0003542)	1.58889769
79	Muscle stiffness (HP:0003552)	1.57413064
80	Dilated cardiomyopathy (HP:0001644)	1.57398603
81	Steppage gait (HP:0003376)	1.57398242
82	Limited hip movement (HP:0008800)	1.57124028
83	Abnormal auditory evoked potentials (HP:0006958)	1.56299177
84	Tubulointerstitial nephritis (HP:0001970)	1.53299594
85	Osteomalacia (HP:0002749)	1.52035289
86	Myopathic facies (HP:0002058)	1.51731375
87	Syncope (HP:0001279)	1.49910116
88	Ulnar deviation of finger (HP:0009465)	1.49259011
89	Long clavicles (HP:0000890)	1.48296643
90	Vertebral fusion (HP:0002948)	1.43391329
91	Absent septum pellucidum (HP:0001331)	1.42540056
92	Shoulder girdle muscle weakness (HP:0003547)	1.40812648
93	Rocker bottom foot (HP:0001838)	1.40015470
94	Difficulty walking (HP:0002355)	1.38698755
95	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.37655933
96	Ventricular arrhythmia (HP:0004308)	1.36943872
97	Heart block (HP:0012722)	1.34901455
98	Abnormality of alanine metabolism (HP:0010916)	1.32917727
99	Hyperalaninemia (HP:0003348)	1.32917727
100	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.32917727

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	OBSCN	5.50675467
2	PIK3CG	4.83356822
3	PDK2	3.70608186
4	MUSK	3.16617954
5	PLK4	2.96259095
6	STK38L	2.78309060
7	CDK19	2.65815392
8	PKN2	2.63927003
9	PLK2	2.53469790
10	PNCK	2.43234546
11	STK39	2.35482268
12	MOS	2.14230610
13	STK16	2.08597411
14	MAP4K2	2.03108433
15	LATS1	1.95714933
16	LIMK1	1.91344920
17	OXSR1	1.90239546
18	CCNB1	1.81534269
19	DDR2	1.56180563
20	PTK2B	1.55394633
21	FLT3	1.41159158
22	WNK4	1.38577969
23	MAPK13	1.36612785
24	MET	1.36244951
25	ARAF	1.30798153
26	KSR2	1.28294350
27	FRK	1.28158764
28	INSRR	1.26205434
29	NEK9	1.23311153
30	MAP3K12	1.22681103
31	MAP3K9	1.22680932
32	STK38	1.18209665
33	BRD4	1.16822470
34	AKT3	1.14346046
35	ACVR1B	1.12788401
36	MYLK	1.08146261
37	MST4	1.08109799
38	RAF1	1.07643333
39	TESK1	1.05219605
40	MAP3K13	1.02546059
41	PIK3CA	0.94664310
42	NUAK1	0.93370483
43	TNIK	0.92847708
44	KSR1	0.90101150
45	MAP3K5	0.89467057
46	NEK1	0.85485038
47	PDK1	0.82683354
48	PRKG1	0.80850489
49	PRKG2	0.79680536
50	FGR	0.78975434
51	BRAF	0.78277149
52	ERBB3	0.77308407
53	LATS2	0.76294952
54	WNK1	0.73290088
55	MAP2K1	0.71580357
56	IRAK2	0.67490748
57	PRKD3	0.64828257
58	DAPK2	0.61805798
59	NEK6	0.59566065
60	NME1	0.58910096
61	DYRK1B	0.56674359
62	CAMK2A	0.56014282
63	PDPK1	0.54692063
64	GRK7	0.53206487
65	ROCK1	0.51448725
66	CASK	0.51309905
67	EGFR	0.50006463
68	FER	0.49997944
69	PKN1	0.48622571
70	BMPR1B	0.48535901
71	PRKACB	0.46104844
72	RET	0.44517962
73	MAP3K2	0.43808732
74	DYRK1A	0.42026591
75	NTRK3	0.41727454
76	MAPK11	0.41625475
77	PAK3	0.41144233
78	PBK	0.40897120
79	BRSK2	0.37789538
80	BRSK1	0.37619819
81	CAMK1	0.37435998
82	MAP3K4	0.36264368
83	DMPK	0.35227181
84	STK3	0.33890453
85	BCKDK	0.32984138
86	EIF2AK3	0.31510202
87	CSNK1D	0.30830740
88	MAP3K7	0.28733975
89	PRKCE	0.28549408
90	IRAK1	0.27897947
91	SGK1	0.26379790
92	RPS6KB1	0.25593952
93	MAPK7	0.23000746
94	FGFR1	0.22703377
95	PRKAA1	0.21586299
96	AKT2	0.19991974
97	PRKACA	0.19979409
98	MARK1	0.19706193
99	WNK3	0.18765613
100	IGF1R	0.18508386

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	4.77774609
2	Cardiac muscle contraction_Homo sapiens_hsa04260	4.43480252
3	Dilated cardiomyopathy_Homo sapiens_hsa05414	4.21080876
4	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	3.38372733
5	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.75580715
6	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	2.32394874
7	Propanoate metabolism_Homo sapiens_hsa00640	2.17475164
8	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.10274437
9	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.99422689
10	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.86836000
11	Phototransduction_Homo sapiens_hsa04744	1.84151615
12	Olfactory transduction_Homo sapiens_hsa04740	1.76789383
13	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.65039648
14	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.62021256
15	Pyruvate metabolism_Homo sapiens_hsa00620	1.60426012
16	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.59004439
17	Tight junction_Homo sapiens_hsa04530	1.58441264
18	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.54661550
19	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.51697138
20	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.49431997
21	Butanoate metabolism_Homo sapiens_hsa00650	1.41087443
22	Basal transcription factors_Homo sapiens_hsa03022	1.39076596
23	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.38757815
24	Parkinsons disease_Homo sapiens_hsa05012	1.34813600
25	Regulation of autophagy_Homo sapiens_hsa04140	1.24983159
26	Carbon metabolism_Homo sapiens_hsa01200	1.24256103
27	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.21353656
28	Calcium signaling pathway_Homo sapiens_hsa04020	1.21331088
29	Arginine and proline metabolism_Homo sapiens_hsa00330	1.20947955
30	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.18219288
31	Focal adhesion_Homo sapiens_hsa04510	1.05817171
32	Protein digestion and absorption_Homo sapiens_hsa04974	1.04659525
33	RNA transport_Homo sapiens_hsa03013	1.04373795
34	Linoleic acid metabolism_Homo sapiens_hsa00591	1.02846289
35	Fat digestion and absorption_Homo sapiens_hsa04975	0.98794529
36	RNA degradation_Homo sapiens_hsa03018	0.98049814
37	Oocyte meiosis_Homo sapiens_hsa04114	0.96396102
38	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.96271610
39	Huntingtons disease_Homo sapiens_hsa05016	0.96266312
40	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.95594464
41	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.92302414
42	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.89605670
43	PPAR signaling pathway_Homo sapiens_hsa03320	0.89497354
44	Circadian rhythm_Homo sapiens_hsa04710	0.88696959
45	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.87635108
46	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.86868129
47	Oxidative phosphorylation_Homo sapiens_hsa00190	0.85235102
48	Viral myocarditis_Homo sapiens_hsa05416	0.84714289
49	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.83490139
50	Proteasome_Homo sapiens_hsa03050	0.83414703
51	Retinol metabolism_Homo sapiens_hsa00830	0.81344029
52	Caffeine metabolism_Homo sapiens_hsa00232	0.80083383
53	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.79949066
54	Renin-angiotensin system_Homo sapiens_hsa04614	0.79869136
55	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.76711579
56	Fatty acid degradation_Homo sapiens_hsa00071	0.74439681
57	ECM-receptor interaction_Homo sapiens_hsa04512	0.73774955
58	Alzheimers disease_Homo sapiens_hsa05010	0.72498778
59	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.72034233
60	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.71471898
61	Arginine biosynthesis_Homo sapiens_hsa00220	0.71279213
62	Phenylalanine metabolism_Homo sapiens_hsa00360	0.69519434
63	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.68068475
64	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.67822574
65	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.65964651
66	Non-homologous end-joining_Homo sapiens_hsa03450	0.64687332
67	Ether lipid metabolism_Homo sapiens_hsa00565	0.63247341
68	ABC transporters_Homo sapiens_hsa02010	0.60307929
69	Sulfur relay system_Homo sapiens_hsa04122	0.58821723
70	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.55258418
71	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.54528516
72	Taste transduction_Homo sapiens_hsa04742	0.51101887
73	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.49982562
74	Glucagon signaling pathway_Homo sapiens_hsa04922	0.49907768
75	Fatty acid elongation_Homo sapiens_hsa00062	0.49524523
76	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.48970670
77	Chemical carcinogenesis_Homo sapiens_hsa05204	0.47970900
78	Salivary secretion_Homo sapiens_hsa04970	0.47196022
79	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.44926321
80	Fanconi anemia pathway_Homo sapiens_hsa03460	0.44139336
81	Peroxisome_Homo sapiens_hsa04146	0.43855041
82	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.40525526
83	Small cell lung cancer_Homo sapiens_hsa05222	0.40264963
84	Selenocompound metabolism_Homo sapiens_hsa00450	0.39046691
85	beta-Alanine metabolism_Homo sapiens_hsa00410	0.38892412
86	p53 signaling pathway_Homo sapiens_hsa04115	0.38327310
87	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.37863770
88	Adherens junction_Homo sapiens_hsa04520	0.37794393
89	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.37634164
90	Metabolic pathways_Homo sapiens_hsa01100	0.37023705
91	Fatty acid metabolism_Homo sapiens_hsa01212	0.34433569
92	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.34086094
93	Thyroid cancer_Homo sapiens_hsa05216	0.33806301
94	Mineral absorption_Homo sapiens_hsa04978	0.32731316
95	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.31164577
96	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.30399409
97	Nitrogen metabolism_Homo sapiens_hsa00910	0.29325771
98	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.27190882
99	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.26043623
100	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.24381281

C1ORF105

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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