C1orf202

Summary

C1orf202 (chromosome 1 open reading frame 202, HGNC:56760) is a protein-coding gene on chromosome 1q44, encoding Uncharacterized protein C1orf202 (A0A1W2PPE3).

At a glance

• Clinical variants (ClinVar): 2 total — 2 pathogenic
• MANE Select transcript: NM_001395959

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:56760
Approved symbol	C1orf202
Name	chromosome 1 open reading frame 202
Location	1q44
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000284188
Ensembl biotype	protein_coding
Entrez	122455338

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000640271

RefSeq mRNA: 1 — MANE Select: NM_001395959 NM_001395959

CCDS: CCDS91189

Canonical transcript exons

ENST00000640271 — 1 exons

Exon	Start	End
ENSE00003978318	244729701	244731015

Expression profiles

Bgee: expression breadth broad, 36 present calls, max score 64.75.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	64.75	gold quality
left testis	UBERON:0004533	64.56	gold quality
testis	UBERON:0000473	62.69	gold quality
ventricular zone	UBERON:0003053	57.68	gold quality
nucleus accumbens	UBERON:0001882	47.89	gold quality
caudate nucleus	UBERON:0001873	44.17	gold quality
fundus of stomach	UBERON:0001160	43.98	gold quality
putamen	UBERON:0001874	43.37	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	42.98	gold quality
skeletal muscle tissue	UBERON:0001134	42.96	gold quality
colonic epithelium	UBERON:0000397	41.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	40.83	gold quality
body of stomach	UBERON:0001161	40.24	gold quality
hypothalamus	UBERON:0001898	40.11	gold quality
substantia nigra	UBERON:0002038	40.06	gold quality
stromal cell of endometrium	CL:0002255	39.70	gold quality
stomach	UBERON:0000945	39.68	gold quality
ganglionic eminence	UBERON:0004023	39.66	gold quality
amygdala	UBERON:0001876	39.58	gold quality
temporal lobe	UBERON:0001871	39.45	gold quality
brain	UBERON:0000955	39.37	silver quality
muscle tissue	UBERON:0002385	39.32	gold quality
bone marrow cell	CL:0002092	38.58	gold quality
Brodmann (1909) area 9	UBERON:0013540	38.45	silver quality
Ammon’s horn	UBERON:0001954	37.98	silver quality
muscle of leg	UBERON:0001383	36.89	gold quality
apex of heart	UBERON:0002098	36.64	gold quality
bone marrow	UBERON:0002371	36.61	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
prefrontal cortex	UBERON:0000451	36.37	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ENAD-17	no	2.74
E-ANND-3	no	1.00

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	4930527J03Rik	ENSMUSG00000070489

Protein

Protein identifiers

Uncharacterized protein C1orf202 — A0A1W2PPE3 (reviewed: A0A1W2PPE3)

All UniProt accessions (1): A0A1W2PPE3

RefSeq proteins (1): NP_001382888* (*=MANE)

Domains & families (InterPro)

UniProt features (4 total): region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1W2PPE3-F1	48.36	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): chr1q44, ZHANG_FH_DEFICIENT_RCC_C2_VS_OTHERS_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
60188	GRCh38/hg38 1q44(chr1:244222222-245502219)x1	Pathogenic
60192	GRCh38/hg38 1q44(chr1:244692061-245647727)x1	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1135 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:244730622:C:A	R101M	0.986
1:244730574:A:G	I117T	0.983
1:244730756:C:A	W56C	0.980
1:244730756:C:G	W56C	0.980
1:244730744:G:C	F60L	0.979
1:244730744:G:T	F60L	0.979
1:244730746:A:G	F60L	0.979
1:244730624:C:A	W100C	0.976
1:244730624:C:G	W100C	0.976
1:244730626:A:G	W100R	0.976
1:244730626:A:T	W100R	0.976
1:244730621:C:A	R101S	0.966
1:244730621:C:G	R101S	0.966
1:244730622:C:G	R101T	0.965
1:244730574:A:C	I117S	0.961
1:244730762:C:A	W54C	0.959
1:244730762:C:G	W54C	0.959
1:244730745:A:G	F60S	0.950
1:244730758:A:G	W56R	0.950
1:244730758:A:T	W56R	0.950
1:244730746:A:T	F60I	0.949
1:244730637:C:A	R96M	0.947
1:244730625:C:A	W100L	0.942
1:244730571:G:T	P118Q	0.937
1:244730614:A:C	Y104D	0.932
1:244730764:A:G	W54R	0.926
1:244730764:A:T	W54R	0.926
1:244730636:C:A	R96S	0.923
1:244730636:C:G	R96S	0.923
1:244730745:A:C	F60C	0.922

dbSNP variants (sampled 300 via entrez): RS1000833316 (1:244729321 G>A), RS1000885759 (1:244729598 C>G), RS1000926499 (1:244730057 T>TC), RS1001168011 (1:244731297 G>A), RS1001475130 (1:244730835 G>A,T), RS1002864295 (1:244732703 G>C), RS1004543547 (1:244732670 G>A), RS1005099379 (1:244730799 G>T), RS1005681741 (1:244729639 T>A), RS1006210537 (1:244729479 AAAG>A), RS1007630371 (1:244730968 G>A), RS1007958782 (1:244731912 T>C), RS1008454914 (1:244732968 G>A), RS1009043552 (1:244731736 G>A), RS1009487364 (1:244731571 C>CA)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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