C17orf107

Summary

C17orf107 (chromosome 17 open reading frame 107, HGNC:37238) is a protein-coding gene on chromosome 17p13.2, encoding Uncharacterized protein C17orf107 (Q6ZR85).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 776 total — 58 pathogenic, 55 likely-pathogenic
• MANE Select transcript: NM_001145536

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37238
Approved symbol	C17orf107
Name	chromosome 17 open reading frame 107
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205710
Ensembl biotype	protein_coding
Entrez	100130311

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000381365, ENST00000521575, ENST00000861085

RefSeq mRNA: 1 — MANE Select: NM_001145536 NM_001145536

CCDS: CCDS45591

Canonical transcript exons

ENST00000381365 — 3 exons

Exon	Start	End
ENSE00001488425	4900237	4902934
ENSE00001488427	4899936	4900145
ENSE00001488428	4899536	4899828

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 85.61.

FANTOM5 (CAGE): breadth broad, TPM avg 2.3887 / max 270.6431, expressed in 734 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158958	0.9241	153
208035	0.6649	369
158955	0.4392	214
158957	0.1965	76
158956	0.1639	70

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	85.61	gold quality
pituitary gland	UBERON:0000007	84.99	gold quality
right atrium auricular region	UBERON:0006631	81.49	gold quality
bone marrow cell	CL:0002092	76.56	gold quality
quadriceps femoris	UBERON:0001377	74.78	gold quality
thymus	UBERON:0002370	73.49	gold quality
cerebellar vermis	UBERON:0004720	73.39	gold quality
prefrontal cortex	UBERON:0000451	73.18	gold quality
right lobe of liver	UBERON:0001114	71.86	gold quality
bone marrow	UBERON:0002371	71.79	gold quality
primary visual cortex	UBERON:0002436	71.56	gold quality
frontal cortex	UBERON:0001870	71.47	gold quality
stromal cell of endometrium	CL:0002255	70.99	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	70.69	gold quality
saliva-secreting gland	UBERON:0001044	70.51	gold quality
cerebellum	UBERON:0002037	70.45	gold quality
cerebellar cortex	UBERON:0002129	70.36	gold quality
cerebellar hemisphere	UBERON:0002245	70.27	gold quality
right hemisphere of cerebellum	UBERON:0014890	69.94	gold quality
superior frontal gyrus	UBERON:0002661	69.60	gold quality
minor salivary gland	UBERON:0001830	69.39	gold quality
right frontal lobe	UBERON:0002810	68.94	gold quality
liver	UBERON:0002107	68.86	gold quality
left ovary	UBERON:0002119	68.44	gold quality
body of pancreas	UBERON:0001150	68.36	gold quality
cerebral cortex	UBERON:0000956	68.31	gold quality
ovary	UBERON:0000992	68.27	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	68.05	gold quality
anterior cingulate cortex	UBERON:0009835	67.92	gold quality
right ovary	UBERON:0002118	67.38	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

miRNA regulators (miRDB)

81 targeting C17orf107, 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-4692	100.00	67.32	2066
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4498	99.47	67.42	2360

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	4930544D05Rik	ENSMUSG00000087279

Protein

Protein identifiers

Uncharacterized protein C17orf107 — Q6ZR85 (reviewed: Q6ZR85)

All UniProt accessions (2): Q6ZR85, E5RJ01

RefSeq proteins (1): NP_001139008* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038963	C17orf107	Family

Pfam: PF17688

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZR85-F1	58.75	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): MIR6515_3P, MIR4700_5P, MIR3158_5P, MIR4667_5P, MIR8089, MIR1304_3P, MIR4326, MIR7150, MIR6751_5P, MIR6803_5P, DESCARTES_MAIN_FETAL_VISCERAL_NEURONS, HARALAMBIEVA_PBMC_FLUARIX_AGE_50_74YO_CORR_WITH_28D_MEM_B_CELL_RESPONSE_AT_28DY_POSITIVE, HARALAMBIEVA_PBMC_FLUARIX_AGE_50_74YO_CORR_WITH_28D_MEM_B_CELL_RESPONSE_AT_3DY_POSITIVE, TRAVAGLINI_LUNG_BASOPHIL_MAST_2_CELL, chr17p13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

110 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C17orf107	SSX7	Q7RTT5	480
C17orf107	ETV3L	Q6ZN32	447
C17orf107	UBXN10	Q96LJ8	417
C17orf107	CHRNE	Q04844	417
C17orf107	SPEF1	Q9Y4P9	406
C17orf107	LRRC38	Q5VT99	398
C17orf107	CHAC2	Q8WUX2	377
C17orf107	RTF2	Q9BY42	370
C17orf107	COPS7B	Q9H9Q2	370
C17orf107	STRIP2	Q9ULQ0	369
C17orf107	ZNF74	Q16587	368
C17orf107	TSNARE1	Q96NA8	359
C17orf107	VAT1L	Q9HCJ6	358
C17orf107	UBE2QL1	A1L167	349
C17orf107	FXYD4	P59646	348

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096P2H6, A0A0D9S1R4, A0A140LIA7, A0A2Y9GDB5, E1C7U0, P06759, P08700, P0DKU6, P0DKW1, P0DKW2, P0DKW3, P0DKW4, P0DKY3, P0DML4, P0DML5, P0DML6, P0DMN8, P0DOC4, P0DP53, P0DTG9, P0DTH0, P0DTH1, P0DTH2, P0DTH3, P0DTH4, P0DUP5, P0DUP6, P24001, P55056, P55057, P55797, Q0VCT2, Q13790, Q28809, Q3SYR5, Q3ZRW9, Q5HZE8, Q5JTB6, Q5JX69, Q5M889

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	58
Likely pathogenic	55
Uncertain significance	212
Likely benign	355
Benign	17

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069436	NM_000080.4(CHRNE):c.590_591del (p.Glu197fs)	Pathogenic
1072517	NM_000080.4(CHRNE):c.647_653dup (p.His218fs)	Pathogenic
1076387	NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter)	Pathogenic
1076580	NM_000080.4(CHRNE):c.829dup (p.Ile277fs)	Pathogenic
1353344	NM_000080.4(CHRNE):c.316_317del (p.Trp106fs)	Pathogenic
1398216	NC_000017.10:g.(?4805539)(4806690_?)del	Pathogenic
1453502	NM_000080.4(CHRNE):c.114_118dup (p.Arg40fs)	Pathogenic
1454204	NM_000080.4(CHRNE):c.802+2T>C	Pathogenic
1459509	NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp)	Pathogenic
18347	NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)	Pathogenic
18357	NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	Pathogenic
1995412	NM_000080.4(CHRNE):c.327_328dup (p.Ile110fs)	Pathogenic
2011729	NM_000080.4(CHRNE):c.453_454dup (p.Val152fs)	Pathogenic
2022812	NM_000080.4(CHRNE):c.11_14dup (p.Leu6fs)	Pathogenic
2032611	NM_000080.4(CHRNE):c.400_403dup (p.Ser135fs)	Pathogenic
2035396	NM_000080.4(CHRNE):c.951_954del (p.Ile318fs)	Pathogenic
2046867	NM_000080.4(CHRNE):c.750_751del (p.Val252fs)	Pathogenic
2094237	NM_000080.4(CHRNE):c.264del (p.Ser88fs)	Pathogenic
2103384	NM_000080.4(CHRNE):c.653_666dup (p.Asp223fs)	Pathogenic
2108647	NM_000080.4(CHRNE):c.852del (p.Val285fs)	Pathogenic
2131088	NM_000080.4(CHRNE):c.293dup (p.Arg99fs)	Pathogenic
2137884	NM_000080.4(CHRNE):c.520G>T (p.Glu174Ter)	Pathogenic
2137885	NM_000080.4(CHRNE):c.393C>G (p.Tyr131Ter)	Pathogenic
243031	NM_000080.4(CHRNE):c.1327del	Pathogenic
243033	NC_000017.11:g.4902680_4903969delinsTCTGGATGCG	Pathogenic
2680786	NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)	Pathogenic
2680801	NM_000080.4(CHRNE):c.46+2del	Pathogenic
2698789	NM_000080.4(CHRNE):c.790del (p.Leu264fs)	Pathogenic
2736400	NM_000080.4(CHRNE):c.583G>A (p.Asp195Asn)	Pathogenic
2751907	NM_000080.4(CHRNE):c.811C>T (p.Gln271Ter)	Pathogenic

SpliceAI

1552 predictions. Top by Δscore:

Variant	Effect	Δscore
17:4899462:GCTTA:G	donor_loss	1.0000
17:4899463:CTTA:C	donor_loss	1.0000
17:4899464:TTA:T	donor_loss	1.0000
17:4899465:TACGT:T	donor_loss	1.0000
17:4899466:A:AC	donor_gain	1.0000
17:4899466:A:AT	donor_loss	1.0000
17:4899467:C:CT	donor_gain	1.0000
17:4899467:CG:C	donor_gain	1.0000
17:4899467:CGTGG:C	donor_gain	1.0000
17:4899564:C:CT	acceptor_gain	1.0000
17:4899581:ACC:A	acceptor_loss	1.0000
17:4900114:GCCTC:G	donor_gain	1.0000
17:4900984:GCTTA:G	donor_loss	1.0000
17:4900985:CTTA:C	donor_loss	1.0000
17:4900986:TTAC:T	donor_loss	1.0000
17:4900987:TACCC:T	donor_loss	1.0000
17:4900988:A:AC	donor_gain	1.0000
17:4900988:A:AT	donor_loss	1.0000
17:4900988:AC:A	donor_gain	1.0000
17:4900989:C:CC	donor_gain	1.0000
17:4900989:C:CT	donor_loss	1.0000
17:4900989:CC:C	donor_gain	1.0000
17:4900989:CCCTG:C	donor_gain	1.0000
17:4901980:T:TA	donor_gain	1.0000
17:4902185:C:A	donor_gain	1.0000
17:4902215:A:AC	donor_gain	1.0000
17:4902216:C:CC	donor_gain	1.0000
17:4902448:A:AC	donor_gain	1.0000
17:4902449:C:CC	donor_gain	1.0000
17:4902615:GCTTA:G	donor_loss	1.0000

AlphaMissense

1182 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:4899811:T:C	F17L	0.952
17:4899813:C:A	F17L	0.952
17:4899813:C:G	F17L	0.952
17:4900011:T:C	F48L	0.942
17:4900013:C:A	F48L	0.942
17:4900013:C:G	F48L	0.942
17:4899801:G:C	W13C	0.929
17:4899801:G:T	W13C	0.929
17:4899817:A:C	S19R	0.923
17:4899819:C:A	S19R	0.923
17:4899819:C:G	S19R	0.923
17:4900113:A:C	S82R	0.917
17:4900115:C:A	S82R	0.917
17:4900115:C:G	S82R	0.917
17:4899799:T:A	W13R	0.913
17:4899799:T:C	W13R	0.913
17:4899987:G:C	A40P	0.907
17:4899988:C:A	A40D	0.904
17:4900238:T:C	I93T	0.897
17:4899824:C:T	T21I	0.884
17:4899997:A:C	Y43S	0.879
17:4899984:G:C	A39P	0.875
17:4900104:G:C	A79P	0.871
17:4900125:T:C	F86L	0.867
17:4900127:C:A	F86L	0.867
17:4900127:C:G	F86L	0.867
17:4899814:C:G	H18D	0.865
17:4899997:A:G	Y43C	0.849
17:4900129:G:A	G87D	0.849
17:4899996:T:C	Y43H	0.846

dbSNP variants (sampled 300 via entrez): RS1000043550 (17:4900519 C>T), RS1000680432 (17:4905410 A>C,T), RS1000874985 (17:4897733 G>T), RS1001048941 (17:4901270 G>A), RS1001291717 (17:4897702 G>A,T), RS1002660849 (17:4905867 C>CA), RS1003018187 (17:4903383 T>C), RS1003252479 (17:4899198 C>A,T), RS1003252941 (17:4904829 T>G), RS1003480608 (17:4900254 G>A,C), RS1003798280 (17:4900056 G>A), RS1003850421 (17:4900266 G>A,C), RS1003920779 (17:4902395 G>A), RS1004080707 (17:4904792 C>A,T), RS1004427533 (17:4904562 C>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:605809, MIM:601462, MIM:608931, MIM:616324, MIM:608930, MIM:611302, MIM:160500

GenCC curated gene-disease

Mondo (8): congenital myasthenic syndrome 4A (MONDO:0011600), congenital myasthenic syndrome (MONDO:0018940), congenital myasthenic syndrome 4C (MONDO:0012157), congenital myasthenic syndrome 4B (MONDO:0014586), myasthenic syndrome, congenital, 1B, fast-channel (MONDO:0012156), congenital myasthenic syndrome 1A (MONDO:0011088), spastic ataxia 2 (MONDO:0012651), distal myopathy (MONDO:0018949)

Orphanet (3): Congenital myasthenic syndrome (Orphanet:590), Autosomal spastic paraplegia type 58 (Orphanet:397946), Distal myopathy (Orphanet:599)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008129_88	Body mass index	5.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D020294	Myasthenic Syndromes, Congenital	C10.668.758.800; C16.320.590
C566969	Ataxia, Spastic, 2, Autosomal Recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
Air Pollutants	affects expression, increases abundance	1
Estradiol	increases expression	1
Ozone	increases abundance, affects expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01203592	PHASE1	COMPLETED	Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes
NCT06436742	PHASE1	RECRUITING	A Phase 1b Study to Investigate Safety and Tolerability of ARGX-119 in Adult Participants With DOK7-Congenital Myasthenic Syndromes (CMS)
NCT07226726	PHASE1	RECRUITING	Patients With Congenital Myasthenic Syndrome Will be Treated With Mesenchymal Stem Cell Exosome Solution
NCT00872950	Not specified	APPROVED_FOR_MARKETING	3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS)
NCT01403402	Not specified	RECRUITING	Congenital Muscle Disease Study of Patient and Family Reported Medical Information
NCT01474980	Not specified	COMPLETED	Pregnancy Outcomes in Congenital Myasthenie Syndrome
NCT02012933	Not specified	NO_LONGER_AVAILABLE	3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)
NCT02189720	Not specified	APPROVED_FOR_MARKETING	Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS),Congenital Myasthenic Syndrome
NCT03062631	Not specified	NO_LONGER_AVAILABLE	Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia
NCT05408702	Not specified	COMPLETED	Exercise in Autoimmune Myasthenia Gravis and Myasthenic Syndromes
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06078553	Not specified	RECRUITING	A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
NCT07502989	Not specified	RECRUITING	Muscle Health Measurements Using Electrical Impedance Myography