C17orf100

Summary

C17orf100 (chromosome 17 open reading frame 100, HGNC:34494) is a protein-coding gene on chromosome 17p13.1, encoding Uncharacterized protein C17orf100 (A8MU93).

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic
• MANE Select transcript: NM_001105520

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34494
Approved symbol	C17orf100
Name	chromosome 17 open reading frame 100
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	LOC388327
Ensembl gene	ENSG00000256806
Ensembl biotype	protein_coding
Entrez	388327

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 nonsense_mediated_decay, 1 protein_coding

ENST00000542475, ENST00000634977, ENST00000635042

RefSeq mRNA: 1 — MANE Select: NM_001105520 NM_001105520

CCDS: CCDS73952

Canonical transcript exons

ENST00000542475 — 1 exons

Exon	Start	End
ENSE00002248266	6651762	6653476

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 89.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.2546 / max 26.4267, expressed in 1172 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159060	1.5811	946
159059	0.4804	245
159061	0.1931	70

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	89.62	gold quality
left ventricle myocardium	UBERON:0006566	89.41	gold quality
kidney epithelium	UBERON:0004819	88.98	gold quality
right lobe of liver	UBERON:0001114	83.46	gold quality
cortical plate	UBERON:0005343	82.59	gold quality
lower esophagus mucosa	UBERON:0035834	82.52	gold quality
epithelial cell of pancreas	CL:0000083	81.29	gold quality
liver	UBERON:0002107	79.03	gold quality
ganglionic eminence	UBERON:0004023	78.82	gold quality
prefrontal cortex	UBERON:0000451	78.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.73	silver quality
myocardium	UBERON:0002349	78.22	gold quality
pituitary gland	UBERON:0000007	78.20	gold quality
nucleus accumbens	UBERON:0001882	77.08	gold quality
adenohypophysis	UBERON:0002196	76.72	gold quality
ventricular zone	UBERON:0003053	76.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	76.02	gold quality
right testis	UBERON:0004534	75.72	gold quality
putamen	UBERON:0001874	75.67	gold quality
upper arm skin	UBERON:0004263	75.48	gold quality
caudate nucleus	UBERON:0001873	75.39	gold quality
frontal cortex	UBERON:0001870	75.20	gold quality
left testis	UBERON:0004533	75.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	75.18	gold quality
neocortex	UBERON:0001950	75.01	gold quality
right frontal lobe	UBERON:0002810	74.88	gold quality
hypothalamus	UBERON:0001898	74.86	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	74.84	gold quality
anterior cingulate cortex	UBERON:0009835	74.70	gold quality
testis	UBERON:0000473	74.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting C17orf100, 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-3912-5P	99.95	66.11	925
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-6815-3P	99.13	68.98	1530

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4930563E22Rik	ENSMUSG00000053574
rattus_norvegicus	4930563E22Rik	ENSRNOG00000080030

Protein

Protein identifiers

Uncharacterized protein C17orf100 — A8MU93 (reviewed: A8MU93)

All UniProt accessions (2): A0A1W2PPW6, A8MU93

RefSeq proteins (1): NP_001098990* (*=MANE)

Domains & families (InterPro)

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MU93-F1	69.07	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): BENPORATH_ES_WITH_H3K27ME3, BARX1_TARGET_GENES, FOXJ2_TARGET_GENES, KAT5_TARGET_GENES, NFE2L1_TARGET_GENES, NKX2_2_TARGET_GENES, ZNF22_TARGET_GENES, ZNF362_TARGET_GENES, MIR1305, MIR510_3P, MIR4652_3P, MIR4303, MIR4272, MIR222_5P, MIR4753_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

88 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C17orf100	CLPX	O76031	326
C17orf100	NDUFA2	O43678	290
C17orf100	ATP5MK	Q96IX5	259
C17orf100	CLPP	Q16740	235
C17orf100	ATP5F1D	P30049	207
C17orf100	CYB5R4	Q7L1T6	187
C17orf100	NDUFS5	O43920	177
C17orf100	NDUFB6	O95139	168
C17orf100	TXN2	Q99757	166
C17orf100	PALB2	Q86YC2	166
C17orf100	NDUFS8	O00217	166
C17orf100	PRDX6	P30041	166
C17orf100	NDUFAB1	O14561	166
C17orf100	ADSL	P30566	166
C17orf100	COX8A	P10176	164
C17orf100	U3KQK5	U3KQK5	164

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A172M4N0, A1YFC1, A1YGK6, A2T7F2, A5A6K1, A6NHN6, A8MU93, F5HAE6, O70561, P0DI83, P16531, P26377, P38469, P56958, P59797, P62521, P84996, Q02234, Q3URU2, Q5JRC9, Q5R7U0, Q5RKG3, Q5SF94, Q5SF96, Q6GZN9, Q6H236, Q6R0H6, Q6ZVQ6, Q7T2B3, Q80Y39, Q810T2, Q86X51, Q8BGJ3, Q8CH20, Q8CJI4, Q8N2A0, Q8N3K9, Q8N976, Q8NC38, Q8NHX4

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
3243183	NC_000017.10:g.(?6526182)(6599280_?)del	Pathogenic

SpliceAI

804 predictions. Top by Δscore:

Variant	Effect	Δscore
17:6690773:ACTT:A	donor_loss	1.0000
17:6690774:CTT:C	donor_loss	1.0000
17:6690775:TTACC:T	donor_loss	1.0000
17:6690776:T:TG	donor_loss	1.0000
17:6690777:A:AC	donor_gain	1.0000
17:6690778:C:A	donor_loss	1.0000
17:6690778:C:CC	donor_gain	1.0000
17:6686205:T:TA	donor_gain	0.9900
17:6687662:CGAGA:C	acceptor_gain	0.9900
17:6687667:C:CC	acceptor_gain	0.9900
17:6690777:AC:A	donor_gain	0.9900
17:6690778:CC:C	donor_gain	0.9900
17:6690778:CCA:C	donor_gain	0.9900
17:6690778:CCAT:C	donor_gain	0.9900
17:6690778:CCATG:C	donor_gain	0.9800
17:6687665:GA:G	acceptor_gain	0.9700
17:6690845:G:T	acceptor_gain	0.9700
17:6690938:GGCCT:G	acceptor_loss	0.9700
17:6690940:CCT:C	acceptor_loss	0.9700
17:6690941:CTG:C	acceptor_loss	0.9700
17:6690942:T:A	acceptor_loss	0.9700
17:6690952:C:CT	acceptor_gain	0.9600
17:6687663:GAGA:G	acceptor_gain	0.9500
17:6693129:A:T	acceptor_gain	0.9500
17:6690941:C:CC	acceptor_gain	0.9400
17:6692826:ATT:A	donor_gain	0.9400
17:6692990:C:CT	donor_gain	0.9400
17:6687761:TTTGA:T	donor_gain	0.9200
17:6689906:A:AC	donor_gain	0.9200
17:6689907:C:CC	donor_gain	0.9200

AlphaMissense

718 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000372565 (17:6650580 G>T), RS1000769204 (17:6650698 C>A), RS1002785708 (17:6653647 C>T), RS1004149025 (17:6650972 T>A), RS1005366114 (17:6650248 A>C), RS1007372635 (17:6653018 A>T), RS1007550520 (17:6651766 T>C), RS1008553263 (17:6650459 T>C,G), RS1008585879 (17:6650144 T>C), RS1008593257 (17:6652418 C>A), RS1009467927 (17:6651289 G>A,T), RS1010823860 (17:6653163 G>A), RS1011121859 (17:6653614 G>A), RS1011176808 (17:6652170 G>A,C), RS1011564453 (17:6652488 C>G,T)

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)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects cotreatment	4
trichostatin A	affects cotreatment, decreases expression	3
Cyclosporine	decreases expression, increases expression	3
FR900359	increases phosphorylation	1
sodium arsenite	increases reaction, affects binding	1
resorcinol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	increases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Nickel	decreases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Tunicamycin	increases expression	1
Urethane	decreases expression	1
tert-Butylhydroperoxide	affects expression	1
Vitamin K 3	affects expression	1

Clinical trials (associated diseases)

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