C17orf114

Summary

C17orf114 (chromosome 17 open reading frame 114, HGNC:55343) is a protein-coding gene on chromosome 17p13.2, encoding Uncharacterized protein C17orf114 (A0A1B0GUV1).

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic
• MANE Select transcript: NM_001395223

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55343
Approved symbol	C17orf114
Name	chromosome 17 open reading frame 114
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000262165
Ensembl biotype	protein_coding
Entrez	119139905

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000571067, ENST00000635921

RefSeq mRNA: 1 — MANE Select: NM_001395223 NM_001395223

CCDS: CCDS92230

Canonical transcript exons

ENST00000635921 — 2 exons

Exon	Start	End
ENSE00003796379	4802247	4802328
ENSE00003798084	4801159	4801455

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 89.85.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.85	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	75.72	gold quality
substantia nigra	UBERON:0002038	75.56	gold quality
temporal lobe	UBERON:0001871	73.28	gold quality
amygdala	UBERON:0001876	73.22	gold quality
hypothalamus	UBERON:0001898	72.32	gold quality
putamen	UBERON:0001874	71.73	gold quality
prefrontal cortex	UBERON:0000451	71.71	gold quality
Ammon’s horn	UBERON:0001954	70.77	gold quality
nucleus accumbens	UBERON:0001882	70.64	gold quality
caudate nucleus	UBERON:0001873	69.61	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	69.28	gold quality
frontal cortex	UBERON:0001870	69.20	gold quality
primary visual cortex	UBERON:0002436	68.87	gold quality
cerebral cortex	UBERON:0000956	68.33	gold quality
anterior cingulate cortex	UBERON:0009835	68.32	gold quality
brain	UBERON:0000955	68.02	gold quality
lower esophagus mucosa	UBERON:0035834	67.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	67.66	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	67.51	gold quality
superior frontal gyrus	UBERON:0002661	67.15	gold quality
right coronary artery	UBERON:0001625	66.77	gold quality
right frontal lobe	UBERON:0002810	66.19	gold quality
cerebellum	UBERON:0002037	64.18	gold quality
cerebellar cortex	UBERON:0002129	63.96	gold quality
cerebellar hemisphere	UBERON:0002245	63.65	gold quality
adenohypophysis	UBERON:0002196	63.08	gold quality
right hemisphere of cerebellum	UBERON:0014890	63.05	gold quality
ectocervix	UBERON:0012249	62.82	gold quality
right uterine tube	UBERON:0001302	62.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.33

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm40193	ENSMUSG00000109833
rattus_norvegicus	Tomm7-ps4	ENSRNOG00000062768

Protein

Protein identifiers

Uncharacterized protein C17orf114 — A0A1B0GUV1 (reviewed: A0A1B0GUV1)

All UniProt accessions (1): A0A1B0GUV1

RefSeq proteins (1): NP_001382152* (*=MANE)

Domains & families (InterPro)

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUV1-F1	60.71	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): MAFG_TARGET_GENES, DESCARTES_MAIN_FETAL_IGFBP1_DKK1_POSITIVE_CELLS, chr17p13

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: A0A096LPI5, A0A0A0MT76, A0A1B0GUV1, A0LE50, A4D1N5, A6NM66, A8MUN3, B1PS81, B1XKC8, B4RE94, F5HDA4, J7JU64, O71302, O93195, P01154, P03414, P09674, P0C5K6, P0DJI6, P0DRI5, P37200, P49671, P59036, P69068, P83629, Q03352, Q06250, Q21QM3, Q4G0G2, Q52M75, Q5T6R2, Q5T742, Q5TEZ4, Q5VSD8, Q64902, Q6GZT2, Q6RVD6, Q6ZV60, Q8N6C7, Q8N8V8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

500 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:4801358:G:C	S57R	0.968
17:4801358:G:T	S57R	0.968
17:4801360:T:G	S57R	0.968
17:4801337:G:C	F64L	0.964
17:4801337:G:T	F64L	0.964
17:4801339:A:G	F64L	0.964
17:4801338:A:G	F64S	0.951
17:4802293:G:C	F9L	0.937
17:4802293:G:T	F9L	0.937
17:4802295:A:G	F9L	0.937
17:4801352:T:A	K59N	0.932
17:4801352:T:G	K59N	0.932
17:4802316:C:G	G2R	0.926
17:4801353:T:A	K59I	0.925
17:4802308:C:A	K4N	0.922
17:4802308:C:G	K4N	0.922
17:4801335:C:G	R65P	0.915
17:4802294:A:G	F9S	0.913
17:4802298:A:G	C8R	0.909
17:4801293:A:T	I79N	0.896
17:4801338:A:C	F64C	0.896
17:4801336:G:T	R65S	0.895
17:4801359:C:A	S57I	0.889
17:4801303:C:G	D76H	0.884
17:4801350:G:T	A60D	0.875
17:4802294:A:C	F9C	0.872
17:4801302:T:A	D76V	0.870
17:4801342:A:G	S63P	0.860
17:4802296:A:C	C8W	0.858
17:4801293:A:C	I79S	0.857

dbSNP variants (sampled 300 via entrez): RS1000488692 (17:4804230 A>C,G), RS1000926507 (17:4805255 CCGT>C), RS1001611677 (17:4802926 T>A,C), RS1001833601 (17:4804975 G>A,C), RS1001933742 (17:4804081 C>A,T), RS1002005687 (17:4804462 G>A,C), RS1002122409 (17:4804826 T>C), RS1002513231 (17:4800980 C>T), RS1002619276 (17:4801897 AT>A,ATT,ATTT), RS1002639041 (17:4805726 C>T), RS1002733933 (17:4805910 G>A), RS1003244211 (17:4806253 T>G), RS1003641112 (17:4807400 C>T), RS1004230201 (17:4806979 G>GC), RS1004493927 (17:4804495 C>CGCCCAG)

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.