C11orf97

Summary

C11orf97 (chromosome 11 open reading frame 97, HGNC:49544) is a protein-coding gene on chromosome 11q21, encoding Uncharacterized protein C11orf97 (A0A1B0GVM6).

Predicted to be located in ciliary basal body. Predicted to be active in ciliary base.

Source: NCBI Gene 643037 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001190462

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49544
Approved symbol	C11orf97
Name	chromosome 11 open reading frame 97
Location	11q21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000257057
Ensembl biotype	protein_coding
Entrez	643037

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000542198, ENST00000966615, ENST00000966616

RefSeq mRNA: 1 — MANE Select: NM_001190462 NM_001190462

CCDS: CCDS81618

Canonical transcript exons

ENST00000542198 — 4 exons

Exon	Start	End
ENSE00002207980	94517583	94517687
ENSE00002220468	94528084	94528209
ENSE00002244888	94512461	94512673
ENSE00002270963	94531896	94532123

Expression profiles

Bgee: expression breadth broad, 96 present calls, max score 95.84.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5372 / max 74.4913, expressed in 96 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116258	0.4577	94
116257	0.0795	43

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	95.84	gold quality
right uterine tube	UBERON:0001302	94.84	gold quality
bronchus	UBERON:0002185	93.83	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.75	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.05	gold quality
left testis	UBERON:0004533	82.97	gold quality
right testis	UBERON:0004534	82.82	gold quality
oviduct epithelium	UBERON:0004804	81.04	gold quality
testis	UBERON:0000473	79.73	gold quality
buccal mucosa cell	CL:0002336	79.47	silver quality
nucleus accumbens	UBERON:0001882	76.60	gold quality
fallopian tube	UBERON:0003889	75.77	gold quality
anterior cingulate cortex	UBERON:0009835	69.37	gold quality
nasal cavity mucosa	UBERON:0001826	69.17	gold quality
amygdala	UBERON:0001876	68.81	gold quality
prefrontal cortex	UBERON:0000451	68.11	gold quality
caudate nucleus	UBERON:0001873	67.85	gold quality
right lung	UBERON:0002167	67.78	gold quality
Brodmann (1909) area 9	UBERON:0013540	67.57	gold quality
epithelium of nasopharynx	UBERON:0001951	67.28	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	66.02	gold quality
hypothalamus	UBERON:0001898	65.13	gold quality
right frontal lobe	UBERON:0002810	64.55	gold quality
sperm	CL:0000019	64.11	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	63.88	gold quality
putamen	UBERON:0001874	63.15	gold quality
neocortex	UBERON:0001950	62.80	gold quality
frontal cortex	UBERON:0001870	62.62	gold quality
Ammon’s horn	UBERON:0001954	62.15	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	61.01
E-MTAB-10287	yes	25.41
E-ANND-3	yes	7.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting C11orf97, 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-507	99.97	70.11	1915
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-1248	98.47	67.54	1314
HSA-MIR-633	98.35	69.45	1167
HSA-MIR-4438	97.96	63.70	947
HSA-MIR-4678	97.59	68.31	902

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1700012B09Rik	ENSMUSG00000031927
rattus_norvegicus	C8h11orf97	ENSRNOG00000009203

Protein

Protein identifiers

Uncharacterized protein C11orf97 — A0A1B0GVM6 (reviewed: A0A1B0GVM6)

All UniProt accessions (1): A0A1B0GVM6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cytoskeleton. Cilium basal body.

RefSeq proteins (1): NP_001177391* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040429	C11orf97-like	Family

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-A0A1B0GVM6-F1	64.33	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 39 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_CILIARY_BASE, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, chr11q21, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_MEF_ICP_WITH_H3K27ME3, BRUINS_UVC_RESPONSE_LATE, FOXN3_TARGET_GENES, SUPT16H_TARGET_GENES, MIR4291, MIR6868_3P, MIR922, MIR4724_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (5): ciliary basal body (GO:0036064), ciliary base (GO:0097546), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium	2
microtubule organizing center	1
ciliary transition zone	1
ciliary transition fiber	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

58 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C11orf97	MORN2	Q502X0	693
C11orf97	CRACR2A	Q9BSW2	583
C11orf97	PLA2G4D	Q86XP0	357
C11orf97	SPACA9	Q96E40	248
C11orf97	CFAP144	A6NL82	205
C11orf97	ANKRD49	Q8WVL7	205
C11orf97	DDX5	P17844	184
C11orf97	GPBAR1	Q8TDU6	183
C11orf97	CYP2A6	P00190	180
C11orf97	HEPHL1	Q6MZM0	166
C11orf97	NOTO	A8MTQ0	154
C11orf97	PIWIL4	Q7Z3Z4	116
C11orf97	AMH	P03971	0
C11orf97	ZNF777	Q9ULD5	0
C11orf97	TNFSF12	O43508	0
C11orf97	TRIM29	Q14134	0
C11orf97	MTCP1	P56278	0
C11orf97	CCSER2	Q9H7U1	0

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUV1, A0A1B0GVM6, A6NIU2, B9VXI8, C0HLZ6, C9J3V5, D3ZF18, F1MQW7, G3UWD5, J3QM76, O70738, P03294, P0DXO0, P0DXO1, P12064, P22962, P27070, P27982, P31628, P33460, P50892, P53186, P61580, P61581, P61582, P61583, Q04221, Q10027, Q16048, Q1T7F1, Q3E795, Q494R0, Q5BIS3, Q5BKH3, Q5K130, Q5YCU8, Q5ZKB1, Q67BS9, Q6ZSB3, Q6ZUT4

Diamond homologs: A0A1B0GVM6, D3ZF18, F1MQW7, Q9DAE7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

804 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:94517591:T:C	F52L	0.920
11:94517593:T:A	F52L	0.920
11:94517593:T:G	F52L	0.920
11:94528193:G:C	R120S	0.919
11:94528193:G:T	R120S	0.919
11:94517623:G:C	K62N	0.912
11:94517623:G:T	K62N	0.912
11:94517619:T:C	I61T	0.907
11:94528192:G:T	R120M	0.903
11:94517617:A:C	R60S	0.885
11:94517617:A:T	R60S	0.885
11:94528192:G:C	R120T	0.880
11:94517614:G:C	K59N	0.861
11:94517614:G:T	K59N	0.861
11:94517619:T:G	I61S	0.859
11:94517587:G:C	K50N	0.840
11:94517587:G:T	K50N	0.840
11:94517607:C:A	P57Q	0.835
11:94528099:T:C	I89T	0.835
11:94528101:T:A	W90R	0.835
11:94528101:T:C	W90R	0.835
11:94528108:T:C	I92T	0.834
11:94528104:A:C	S91R	0.830
11:94528106:C:A	S91R	0.830
11:94528106:C:G	S91R	0.830
11:94528103:G:C	W90C	0.822
11:94528103:G:T	W90C	0.822
11:94517597:T:G	Y54D	0.818
11:94517606:C:T	P57S	0.803
11:94528189:C:T	S119F	0.802

dbSNP variants (sampled 300 via entrez): RS1000189993 (11:94529089 C>T), RS1000284597 (11:94529211 C>T), RS1000460869 (11:94522419 G>A), RS1000611251 (11:94516690 T>A,C), RS1000623122 (11:94526331 A>C), RS1001030105 (11:94513355 A>G), RS1001048892 (11:94532002 A>G), RS1001423285 (11:94529709 A>G), RS1001516775 (11:94529986 A>G), RS1001641910 (11:94520116 A>T), RS1001689418 (11:94516850 G>A,C), RS1001694459 (11:94514102 G>A,T), RS1001999616 (11:94523050 T>C,G), RS1002172800 (11:94532499 T>G), RS1002396643 (11:94525356 A>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

1 associations (top):

Study	Trait	p-value
GCST003674_2	Obstructive sleep apnea trait (apnea hypopnea index)	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007817	sleep apnea measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	2
methylmercuric chloride	increases expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
Cadmium	increases abundance, decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Okadaic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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