C1orf94

Summary

C1orf94 (chromosome 1 open reading frame 94, HGNC:28250) is a protein-coding gene on chromosome 1p35.1, encoding Uncharacterized protein C1orf94 (Q6P1W5).

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 12 total
• MANE Select transcript: NM_001134734

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28250
Approved symbol	C1orf94
Name	chromosome 1 open reading frame 94
Location	1p35.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC15882
Ensembl gene	ENSG00000142698
Ensembl biotype	protein_coding
Entrez	84970

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000373374, ENST00000488417

RefSeq mRNA: 2 — MANE Select: NM_001134734 NM_001134734, NM_032884

CCDS: CCDS381, CCDS44108

Canonical transcript exons

ENST00000488417 — 7 exons

Exon	Start	End
ENSE00001460399	34218686	34219131
ENSE00001930007	34176907	34178109
ENSE00002095077	34200772	34201032
ENSE00002125161	34212210	34212406
ENSE00002136447	34208157	34208234
ENSE00002136629	34202084	34202259
ENSE00003575103	34197225	34197913

Expression profiles

Bgee: expression breadth broad, 49 present calls, max score 92.62.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2506 / max 92.5839, expressed in 64 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2067	0.0983	41
2068	0.0716	4
2066	0.0702	31
2065	0.0105	5

Top tissues by expression

235 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	92.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.27	gold quality
nasal cavity epithelium	UBERON:0005384	84.19	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.30	gold quality
left testis	UBERON:0004533	82.18	gold quality
right testis	UBERON:0004534	81.18	gold quality
testis	UBERON:0000473	80.67	gold quality
adult organism	UBERON:0007023	80.37	gold quality
cardiac muscle of right atrium	UBERON:0003379	79.43	gold quality
left ventricle myocardium	UBERON:0006566	79.20	gold quality
kidney epithelium	UBERON:0004819	77.19	gold quality
vastus lateralis	UBERON:0001379	77.02	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	76.40	gold quality
quadriceps femoris	UBERON:0001377	76.18	gold quality
myocardium	UBERON:0002349	75.89	gold quality
mucosa of paranasal sinus	UBERON:0005030	73.83	gold quality
upper arm skin	UBERON:0004263	73.52	gold quality
superficial temporal artery	UBERON:0001614	72.13	gold quality
epithelial cell of pancreas	CL:0000083	71.97	gold quality
parotid gland	UBERON:0001831	71.93	gold quality
lateral globus pallidus	UBERON:0002476	71.47	silver quality
biceps brachii	UBERON:0001507	70.79	gold quality
lateral nuclear group of thalamus	UBERON:0002736	70.08	gold quality
subthalamic nucleus	UBERON:0001906	69.72	gold quality
dorsal plus ventral thalamus	UBERON:0001897	68.94	gold quality
vena cava	UBERON:0004087	68.92	gold quality
secondary oocyte	CL:0000655	68.72	gold quality
cardia of stomach	UBERON:0001162	67.87	gold quality
substantia nigra pars compacta	UBERON:0001965	67.63	gold quality
inferior vagus X ganglion	UBERON:0005363	67.54	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting C1orf94, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-5697	99.39	67.74	1249
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-1-5P	98.70	68.66	1017
HSA-MIR-548S	98.50	67.17	1213
HSA-MIR-6838-3P	98.40	65.88	559
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-550A-3P	98.37	69.61	632
HSA-MIR-599	98.32	66.99	1037
HSA-MIR-10226	98.25	66.50	811
HSA-MIR-3661	97.83	67.30	705
HSA-MIR-200C-5P	97.71	67.73	596
HSA-MIR-3663-5P	97.01	64.84	713
HSA-MIR-592	96.59	67.59	817

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	CK137956	ENSMUSG00000028813
rattus_norvegicus	C5h1orf94	ENSRNOG00000048129

Protein

Protein identifiers

Uncharacterized protein C1orf94 — Q6P1W5 (reviewed: Q6P1W5)

All UniProt accessions (1): Q6P1W5

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P1W5-1	1	yes
Q6P1W5-2	2

RefSeq proteins (2): NP_001128206, NP_116273 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031496	DUF4688	Family

Pfam: PF15752

UniProt features (5 total): sequence variant 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P1W5-F1	43.05	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): BENPORATH_ES_WITH_H3K27ME3, chr1p35, MIR6867_5P, MIR548S, MIR1_5P, MIR550A_3P, MIR3661, MIR200C_5P, MIR431_5P, MIR3663_5P, MYOCD_TARGET_GENES, ROZANOV_MMP14_TARGETS_DN, GSE16385_IFNG_TNF_VS_IL4_STIM_MACROPHAGE_ROSIGLITAZONE_TREATED_UP, GSE27896_HDAC6_KO_VS_WT_TREG_UP, GSE21063_CTRL_VS_ANTI_IGM_STIM_BCELL_3H_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

246 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf94	ZBTB8OS	Q8IWT0	646
C1orf94	ASPHD1	Q5U4P2	602
C1orf94	OR2T4	Q8NH00	580
C1orf94	PABPC4L	P0CB38	533
C1orf94	FRMD3	A2A2Y4	518
C1orf94	ATCAY	Q86WG3	435
C1orf94	OLFML2B	Q68BL8	391
C1orf94	CMPK1	P30085	370
C1orf94	R3HCC1	Q9Y3T6	360
C1orf94	AASDHPPT	Q9NRN7	353
C1orf94	ISL2	Q96A47	352
C1orf94	ERI2	A8K979	346
C1orf94	ARHGEF40	Q8TER5	321
C1orf94	TRAPPC9	Q96Q05	307
C1orf94	TNNT3	P45378	272

IntAct

365 interactions, top by confidence:

A	B	Type	Score
ATXN1	C1orf94	psi-mi:“MI:0915”(physical association)	0.860
GSE1	C1orf94	psi-mi:“MI:0915”(physical association)	0.780
C1orf94	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780
NFKBID	C1orf94	psi-mi:“MI:0915”(physical association)	0.780
GORASP2	C1orf94	psi-mi:“MI:0915”(physical association)	0.780
DAZAP2	C1orf94	psi-mi:“MI:0915”(physical association)	0.780
C1orf94	NFKBID	psi-mi:“MI:0915”(physical association)	0.780
C1orf94	GSE1	psi-mi:“MI:0915”(physical association)	0.780
C1orf94	GORASP2	psi-mi:“MI:0915”(physical association)	0.780
MAPK1IP1L	C1orf94	psi-mi:“MI:0915”(physical association)	0.750
CDKN2D	C1orf94	psi-mi:“MI:0915”(physical association)	0.740
C1orf94	CDKN2D	psi-mi:“MI:0915”(physical association)	0.740
VPS37C	C1orf94	psi-mi:“MI:0915”(physical association)	0.720
C1orf94	OIP5	psi-mi:“MI:0915”(physical association)	0.720
RAD51D	C1orf94	psi-mi:“MI:0915”(physical association)	0.720
C1orf94	HNRNPF	psi-mi:“MI:0915”(physical association)	0.720
PLEKHB2	C1orf94	psi-mi:“MI:0915”(physical association)	0.720
OIP5	C1orf94	psi-mi:“MI:0915”(physical association)	0.720
HNRNPF	C1orf94	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (151): C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid), C1orf94 (Two-hybrid)

ESM2 similar proteins: A0A096MK47, A0JNH1, A6H5Y1, A6NCI8, A6NFA0, A6NGG8, B2RQL2, D3Z1D3, D3ZMK9, E9Q286, E9Q309, M0RD54, O14513, P51816, Q01613, Q03172, Q05860, Q2M2Z5, Q32LN6, Q3MHH3, Q3UXL4, Q3V0A6, Q569L8, Q571I4, Q5DTX6, Q5FW52, Q5HYW2, Q5R9I1, Q5VT06, Q5VWP3, Q60988, Q66HG9, Q68DA7, Q6P1W5, Q6P9P0, Q6PAC4, Q6PG16, Q711Q0, Q7TP36, Q7TSA6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

12 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1112 predictions. Top by Δscore:

Variant	Effect	Δscore
1:34178105:GAAGA:G	donor_gain	1.0000
1:34197224:GA:G	acceptor_gain	1.0000
1:34197224:GAGCT:G	acceptor_gain	1.0000
1:34197909:GATGG:G	donor_gain	1.0000
1:34197911:TGGG:T	donor_loss	1.0000
1:34197912:GG:G	donor_gain	1.0000
1:34197912:GGGT:G	donor_loss	1.0000
1:34197913:GG:G	donor_gain	1.0000
1:34197913:GGT:G	donor_loss	1.0000
1:34197914:G:C	donor_loss	1.0000
1:34197915:T:G	donor_loss	1.0000
1:34201006:TGG:T	donor_gain	1.0000
1:34201008:G:GT	donor_gain	1.0000
1:34201008:G:T	donor_gain	1.0000
1:34201033:G:GG	donor_gain	1.0000
1:34202082:A:AG	acceptor_gain	1.0000
1:34202083:G:GA	acceptor_gain	1.0000
1:34208776:C:CA	acceptor_gain	1.0000
1:34212198:T:TA	acceptor_gain	1.0000
1:34212200:T:TA	acceptor_gain	1.0000
1:34212206:GCAG:G	acceptor_loss	1.0000
1:34212208:AGGT:A	acceptor_gain	1.0000
1:34212209:G:A	acceptor_loss	1.0000
1:34212209:GGTG:G	acceptor_gain	1.0000
1:34178106:AAGA:A	donor_gain	0.9900
1:34178107:AGA:A	donor_gain	0.9900
1:34178108:GA:G	donor_gain	0.9900
1:34178108:GAG:G	donor_gain	0.9900
1:34178110:G:GG	donor_gain	0.9900
1:34178111:T:G	donor_loss	0.9900

AlphaMissense

3906 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:34177999:G:C	W70C	0.990
1:34177999:G:T	W70C	0.990
1:34177997:T:A	W70R	0.989
1:34177997:T:C	W70R	0.989
1:34177943:T:A	W52R	0.988
1:34177943:T:C	W52R	0.988
1:34177928:T:C	F47L	0.987
1:34177930:C:A	F47L	0.987
1:34177930:C:G	F47L	0.987
1:34177945:G:C	W52C	0.982
1:34177945:G:T	W52C	0.982
1:34177985:T:C	C66R	0.982
1:34197280:T:C	F126L	0.981
1:34197282:C:A	F126L	0.981
1:34197282:C:G	F126L	0.981
1:34177987:C:G	C66W	0.980
1:34197853:T:C	F317L	0.978
1:34197855:T:A	F317L	0.978
1:34197855:T:G	F317L	0.978
1:34177995:T:G	I69S	0.977
1:34177995:T:C	I69T	0.976
1:34177977:A:T	D63V	0.966
1:34177986:G:A	C66Y	0.965
1:34177929:T:C	F47S	0.964
1:34177936:A:C	R49S	0.964
1:34177936:A:T	R49S	0.964
1:34177998:G:C	W70S	0.964
1:34197290:T:C	L129P	0.964
1:34177922:G:C	G45R	0.963
1:34218756:T:C	F598L	0.963

dbSNP variants (sampled 300 via entrez): RS1000001633 (1:34166674 AT>A), RS1000011947 (1:34198889 G>A), RS1000087783 (1:34193268 T>C), RS1000088026 (1:34182254 A>G), RS1000137817 (1:34173081 C>T), RS1000142102 (1:34207546 G>A), RS1000142154 (1:34169471 T>C), RS1000154721 (1:34212002 A>T), RS1000231743 (1:34214916 A>C), RS1000245731 (1:34217511 T>A), RS1000256333 (1:34179467 A>G), RS1000335877 (1:34210310 C>T), RS1000366573 (1:34185582 C>T), RS1000367015 (1:34210039 T>C), RS1000462880 (1:34176699 G>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001662_1	Generalized epilepsy	6.000000e-07
GCST004943_2	Pediatric nonalcoholic steatohepatitis	8.000000e-06
GCST007559_2	Sleep duration (short sleep)	5.000000e-08
GCST009218_36	Lateral ventricle temporal horn volume	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	increases expression, affects cotreatment	1
Temozolomide	decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Ivermectin	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.