UQCC1

Summary

UQCC1 (ubiquinol-cytochrome c reductase complex assembly factor 1, HGNC:15891) is a protein-coding gene on chromosome 20q11.22, encoding Ubiquinol-cytochrome c reductase complex assembly factor 1 (Q9NVA1). Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). It is a selective cancer dependency (DepMap: 11.1% of cell lines).

This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 55245 — RefSeq curated summary.

At a glance

• GWAS associations: 44
• Clinical variants (ClinVar): 52 total
• Cancer dependency (DepMap): dependent in 11.1% of screened cell lines
• MANE Select transcript: NM_018244

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15891
Approved symbol	UQCC1
Name	ubiquinol-cytochrome c reductase complex assembly factor 1
Location	20q11.22
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10850, CBP3, BFZB
Ensembl gene	ENSG00000101019
Ensembl biotype	protein_coding
OMIM	611797
Entrez	55245

Gene structure

Transcript identifiers

Ensembl transcripts: 40 — 27 protein_coding, 6 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay, 2 retained_intron

ENST00000349714, ENST00000359226, ENST00000374380, ENST00000374384, ENST00000374385, ENST00000374394, ENST00000397553, ENST00000397554, ENST00000424405, ENST00000438533, ENST00000443429, ENST00000453855, ENST00000457259, ENST00000472559, ENST00000473982, ENST00000482440, ENST00000491040, ENST00000491125, ENST00000495752, ENST00000496812, ENST00000497717, ENST00000498651, ENST00000896131, ENST00000896132, ENST00000896133, ENST00000896134, ENST00000896135, ENST00000896136, ENST00000896137, ENST00000922688, ENST00000922689, ENST00000922690, ENST00000922691, ENST00000922692, ENST00000959001, ENST00000959002, ENST00000959003, ENST00000959004, ENST00000959005, ENST00000959006

RefSeq mRNA: 3 — MANE Select: NM_018244 NM_001184977, NM_018244, NM_199487

CCDS: CCDS13252, CCDS13253, CCDS54458

Canonical transcript exons

ENST00000374385 — 10 exons

Exon	Start	End
ENSE00003464248	35314688	35314765
ENSE00003465965	35411940	35411973
ENSE00003471345	35306666	35306779
ENSE00003538267	35381918	35382025
ENSE00003550220	35384038	35384133
ENSE00003573034	35374184	35374256
ENSE00003574275	35366557	35366614
ENSE00003634792	35394092	35394196
ENSE00003679661	35347164	35347272
ENSE00003848667	35302578	35304069

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 95.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.5812 / max 430.6084, expressed in 1796 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187051	16.8432	1795
187042	0.4416	199
187041	0.2295	112
187044	0.0606	18
187043	0.0063	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	95.65	gold quality
muscle of leg	UBERON:0001383	95.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.47	gold quality
apex of heart	UBERON:0002098	95.19	gold quality
heart left ventricle	UBERON:0002084	94.97	gold quality
cardiac ventricle	UBERON:0002082	94.78	gold quality
muscle organ	UBERON:0001630	94.54	gold quality
right uterine tube	UBERON:0001302	94.53	gold quality
right atrium auricular region	UBERON:0006631	94.37	gold quality
biceps brachii	UBERON:0001507	94.05	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.69	gold quality
heart	UBERON:0000948	93.60	gold quality
prefrontal cortex	UBERON:0000451	93.59	gold quality
cardiac atrium	UBERON:0002081	93.35	gold quality
cerebellar hemisphere	UBERON:0002245	93.35	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.28	gold quality
cerebellar cortex	UBERON:0002129	93.27	gold quality
right adrenal gland cortex	UBERON:0035827	93.27	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.25	gold quality
right adrenal gland	UBERON:0001233	93.19	gold quality
rectum	UBERON:0001052	92.98	gold quality
left adrenal gland	UBERON:0001234	92.94	gold quality
lower esophagus mucosa	UBERON:0035834	92.81	gold quality
left adrenal gland cortex	UBERON:0035825	92.66	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.61	gold quality
lower esophagus	UBERON:0013473	92.60	gold quality
right frontal lobe	UBERON:0002810	92.59	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.56	gold quality
mucosa of stomach	UBERON:0001199	92.53	gold quality
vastus lateralis	UBERON:0001379	92.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting UQCC1, 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-8485	100.00	77.57	4731
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4326	98.97	67.63	962

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 11.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 13)

• This paper describes the cloning of the human UQCC gene. (PMID:11118897)
• The majority of tumours showed strong p16, p21, p27, pRb and cyclin D1 staining and little or no p53 expression. Tumours harbouring dysplasia were significantly more likely to be p53-positive and exhibit up-regulated p21 and p27 (PMID:19863319)
• Data show that a significant increase in plasma SDF-1alpha, and an immediate decrease in plasma VEGF and FGF levels after chemotherapy. (PMID:20072657)
• GPC3 was significantly more often and more strongly expressed in HCCs (72%) than in FLCs (17%). (PMID:20444731)
• Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts. (PMID:21043486)
• High VEGF is associated with peripheral T-cell lymphoma. (PMID:21077742)
• Current and potential anticancer drugs targeting members of the UHRF1 complex including epigenetic modifiers. (PMID:21110828)
• Data show that high serum VEGF levels are closely related to the activation status of the VEGFR2/KDR receptor in cancer cells, indicating a stimulatory effect of serum VEGF on the VEGF pathway contributing to tumor progression. (PMID:21208810)
• These data suggest that HLX may function to balance attractive with repulsive vessel guidance by up-regulating UNC5B and to down-modulate sprouting under normoxic conditions. (PMID:21224470)
• study identified a novel locus, i.e., the UQCC gene, for spine BS variation in humans. Future functional studies will contribute to elucidating the mechanisms by which UQCC regulates bone growth and development (PMID:23207799)
• This work provides insight into human complex III assembly by establishing that UQCC1 and UQCC2 are complex III assembly factors participating in cytochrome b biogenesis. (PMID:24385928)
• UQCC3 is reduced in cells depleted for the complex III assembly factors UQCC1 and UQCC2. Conversely, absence of UQCC3 in patient cells does not affect UQCC1 and UQCC2. (PMID:25008109)
• Single nucleotide polymorphism in UQCC is associated with developmental dysplasia of the hip. (PMID:25848760)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	uqcc1	ENSDARG00000068176
mus_musculus	Uqcc1	ENSMUSG00000005882
rattus_norvegicus	Uqcc1	ENSRNOG00000048309
drosophila_melanogaster	Uqcc1	FBGN0035722
caenorhabditis_elegans		WBGENE00016442

Protein

Protein identifiers

Ubiquinol-cytochrome c reductase complex assembly factor 1 — Q9NVA1 (reviewed: Q9NVA1)

Alternative names: Basic FGF-repressed Zic-binding protein, Ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog

All UniProt accessions (13): Q9NVA1, B1AKV2, B1AKV3, B1AKV4, B1AKV6, B7Z7J8, D6RDV2, F8WAM1, F8WCR2, H7BZM2, H7C3C3, H7C611, Q3KRB6

UniProt curated annotations — full annotation on UniProt →

Function. Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability.

Subunit / interactions. Interacts with UQCC2. Interacts with UQCC3. Forms a complex, named COMB/coordinator of mitochondrial CYTB biogenesis, composed of UQCC1, UQCC2, UQCC4, UQCC5 and UQCC6; stabilizes nascent cytochrome b/MT-CYB and promotes its membrane insertion. Forms a complex, named COMB/coordinator of mitochondrial CYTB biogenesis, composed of UQCC1, UQCC2, UQCC4, UQCC5 and UQCC6; stabilizes nascent cytochrome b/MT-CYB and promotes its membrane insertion. Forms a complex, named COMA, composed of UQCC1, UQCC2 and UQCC4; activates MT-CYB translation. Forms a complex, named COMC, composed of UQCC1, UQCC2; UQCC3 and UQCC4; mediates MT-CYB hemylation and association with the first nuclear-encoded CIII subunit UQCRQ.

Subcellular location. Mitochondrion inner membrane. Cytoplasmic vesicle.

Miscellaneous. May be due to a competing donor splice site.

Similarity. Belongs to the CBP3 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9NVA1-1	1	yes
Q9NVA1-2	2
Q9NVA1-3	3
Q9NVA1-4	4
Q9NVA1-5	5

RefSeq proteins (3): NP_001171906, NP_060714, NP_955781 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007129	Ubiqinol_cyt_c_chaperone_CPB3	Family
IPR021150	Ubiq_cyt_c_chap	Domain

Pfam: PF03981

UniProt features (11 total): splice variant 5, sequence variant 3, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVA1-F1	75.29	0.59

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9865881	Complex III assembly

MSigDB gene sets: 130 (showing top): WANG_CLIM2_TARGETS_UP, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, GOCC_MITOCHONDRIAL_ENVELOPE, chr20q11, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOCC_ORGANELLE_INNER_MEMBRANE, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, BLALOCK_ALZHEIMERS_DISEASE_DN, NIKOLSKY_MUTATED_AND_AMPLIFIED_IN_BREAST_CANCER, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_UP, GOCC_ORGANELLE_ENVELOPE, FORTSCHEGGER_PHF8_TARGETS_DN, ZWANG_DOWN_BY_2ND_EGF_PULSE

GO Biological Process (1): mitochondrial respiratory chain complex III assembly (GO:0034551)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), cytoplasmic vesicle (GO:0031410), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
mitochondrion	1
respiratory chain complex III assembly	1
mitochondrial respiratory chain complex assembly	1
binding	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
intracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1468 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UQCC1	GDF5	P43026	865
UQCC1	UQCC2	Q9BRT2	823
UQCC1	MT-CYB	P00156	764
UQCC1	LYRM7	Q5U5X0	721
UQCC1	UQCC3	Q6UW78	705
UQCC1	TTC19	Q6DKK2	669
UQCC1	UQCRQ	O14949	644
UQCC1	UQCRB	P14927	643
UQCC1	BCS1L	Q9Y276	633
UQCC1	UQCR10	Q9UDW1	594
UQCC1	TEX51	A0A1B0GUA7	565
UQCC1	CYC1	P08574	558
UQCC1	UQCRH	P07919	542
UQCC1	BMPR1B	P78366	541
UQCC1	UQCRC2	P22695	540

IntAct

70 interactions, top by confidence:

A	B	Type	Score
CSNK1E	PER2	psi-mi:“MI:0914”(association)	0.850
CDR2	KTN1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
LRRC46	TFPT	psi-mi:“MI:0914”(association)	0.640
AP2S1	AP2A2	psi-mi:“MI:0914”(association)	0.640
UQCC2	UQCC1	psi-mi:“MI:0915”(physical association)	0.620
CRYAA	UQCC1	psi-mi:“MI:0915”(physical association)	0.560
UQCC1	ATN1	psi-mi:“MI:0915”(physical association)	0.560
KLK6	UQCC1	psi-mi:“MI:0915”(physical association)	0.560
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
CSNK1E	POTEF	psi-mi:“MI:0914”(association)	0.530
ARF5	ARF4	psi-mi:“MI:0914”(association)	0.530
TM2D2	TMEM97	psi-mi:“MI:0914”(association)	0.530
LRRK2		psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
TRUB2	NME6	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NDUFS8	psi-mi:“MI:0914”(association)	0.350
	PLOD3	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (127): UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS), UQCC1 (Affinity Capture-MS)

ESM2 similar proteins: A0JPH4, A2A8U2, A3KN05, A6H773, A6QPI4, O14524, Q05B67, Q08BI9, Q15070, Q1G3L1, Q2M2S2, Q2NL34, Q3SYV3, Q3SZV6, Q4KLZ1, Q5EA03, Q5G2C6, Q5GH64, Q5RC29, Q5RE99, Q5SNT2, Q5SPH9, Q5T6X4, Q5XIJ4, Q5ZLJ4, Q5ZML6, Q6AY04, Q6DVA0, Q6PCT8, Q800L1, Q86XE3, Q8BGA9, Q8BGY7, Q8IYL2, Q8NC56, Q8WWC4, Q921N7, Q95123, Q96B77, Q96ND0

Diamond homologs: P21560, Q9CWU6, Q9NVA1, Q9USK6, Q9VRZ7, Q9W6I0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2848 predictions. Top by Δscore:

Variant	Effect	Δscore
20:35304067:TATCT:T	acceptor_loss	1.0000
20:35304070:C:CC	acceptor_gain	1.0000
20:35304077:C:CT	acceptor_gain	1.0000
20:35304078:A:T	acceptor_gain	1.0000
20:35314682:TCTTA:T	donor_loss	1.0000
20:35314683:CTTA:C	donor_loss	1.0000
20:35314684:TTAC:T	donor_loss	1.0000
20:35314685:TA:T	donor_loss	1.0000
20:35314686:A:AT	donor_loss	1.0000
20:35314687:C:A	donor_loss	1.0000
20:35314761:TTAAC:T	acceptor_gain	1.0000
20:35314762:TAACC:T	acceptor_loss	1.0000
20:35314763:AACC:A	acceptor_loss	1.0000
20:35314764:ACC:A	acceptor_loss	1.0000
20:35314765:CCTA:C	acceptor_loss	1.0000
20:35314766:CTA:C	acceptor_loss	1.0000
20:35314767:T:A	acceptor_loss	1.0000
20:35347162:ACCC:A	donor_gain	1.0000
20:35347163:CCCC:C	donor_gain	1.0000
20:35374182:A:AC	donor_gain	1.0000
20:35374183:C:CC	donor_gain	1.0000
20:35374254:CTT:C	acceptor_gain	1.0000
20:35374257:C:CC	acceptor_gain	1.0000
20:35382035:C:CT	acceptor_gain	1.0000
20:35382036:A:T	acceptor_gain	1.0000
20:35384033:CTCA:C	donor_loss	1.0000
20:35384034:TCACC:T	donor_loss	1.0000
20:35384035:CA:C	donor_loss	1.0000
20:35384036:A:AG	donor_loss	1.0000
20:35384134:C:CC	acceptor_gain	1.0000

AlphaMissense

1972 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:35304012:A:G	W275R	0.998
20:35304012:A:T	W275R	0.998
20:35304024:C:A	G271W	0.998
20:35366558:A:G	W155R	0.998
20:35366558:A:T	W155R	0.998
20:35374240:G:T	A117D	0.998
20:35347180:C:G	R186P	0.997
20:35374218:A:C	C124W	0.997
20:35374220:A:G	C124R	0.997
20:35306672:C:A	R253S	0.996
20:35306672:C:G	R253S	0.996
20:35306673:C:G	R253T	0.996
20:35306742:A:G	L230P	0.996
20:35347235:C:A	G168W	0.996
20:35347258:C:G	R160P	0.996
20:35347264:A:G	L158P	0.996
20:35347268:A:G	C157R	0.996
20:35304010:C:A	W275C	0.995
20:35304010:C:G	W275C	0.995
20:35304023:C:T	G271E	0.995
20:35347199:A:G	W180R	0.995
20:35347199:A:T	W180R	0.995
20:35366585:A:G	W146R	0.995
20:35366585:A:T	W146R	0.995
20:35374219:C:T	C124Y	0.995
20:35374229:A:C	Y121D	0.995
20:35304023:C:A	G271V	0.994
20:35304059:A:G	L259P	0.994
20:35306751:G:T	A227D	0.994
20:35306754:A:G	L226P	0.994

dbSNP variants (sampled 300 via entrez): RS1000034786 (20:35390643 A>C), RS1000053799 (20:35403332 T>C), RS1000108172 (20:35342165 T>C), RS1000110840 (20:35363570 G>A), RS1000146462 (20:35345503 T>A,C), RS1000219781 (20:35335994 A>G), RS1000243853 (20:35351756 G>A), RS1000351183 (20:35359905 C>T), RS1000354561 (20:35387363 A>C), RS1000385079 (20:35408246 T>C), RS1000390306 (20:35322506 G>A), RS1000434048 (20:35376833 C>A,T), RS1000487638 (20:35342601 A>G), RS1000513053 (20:35361647 C>A), RS1000517163 (20:35315197 G>A,T)

Disease associations

OMIM: gene MIM:611797 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

44 associations (top):

Study	Trait	p-value
GCST000136_1	Height	2.000000e-16
GCST000175_30	Height	8.000000e-07
GCST000176_16	Height	1.000000e-16
GCST000372_13	Height	1.000000e-13
GCST000611_24	Height	2.000000e-06
GCST001728_18	Ulcerative colitis	2.000000e-08
GCST001756_1	Spine bone size	2.000000e-07
GCST002702_107	Height	8.000000e-32
GCST002841_1	Developmental dysplasia of the hip	4.000000e-06
GCST004033_14	QRS interval (sulfonylurea treatment interaction)	8.000000e-07
GCST004033_7	QRS interval (sulfonylurea treatment interaction)	8.000000e-08
GCST004576_27	Waist-to-hip ratio adjusted for body mass index	2.000000e-08
GCST005956_31	Waist-to-hip ratio adjusted for BMI	8.000000e-08
GCST005958_16	Waist-to-hip ratio adjusted for BMI (age >50)	6.000000e-06
GCST005962_40	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-08
GCST007294_22	Body fat distribution (trunk fat ratio)	4.000000e-48
GCST007294_41	Body fat distribution (trunk fat ratio)	6.000000e-38
GCST007295_10	Body fat distribution (leg fat ratio)	3.000000e-09
GCST007295_170	Body fat distribution (leg fat ratio)	3.000000e-43
GCST007295_4	Body fat distribution (leg fat ratio)	1.000000e-40
GCST007429_83	Lung function (FVC)	1.000000e-23
GCST007430_8	Peak expiratory flow	1.000000e-09
GCST007432_201	FEV1	4.000000e-12
GCST007483_7	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-16
GCST007487_36	Waist-to-hip ratio adjusted for BMI (additive genetic model)	3.000000e-13
GCST007492_17	Waist-to-hip ratio adjusted for BMI (additive genetic model)	3.000000e-16
GCST007494_2	Waist-to-hip ratio adjusted for BMI (additive genetic model)	3.000000e-14
GCST008163_366	Height	2.000000e-09
GCST008163_66	Height	6.000000e-06
GCST010142_10	Fish- and plant-related diet	8.000000e-12

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004508	spine bone size
EFO:0007922	response to sulfonylurea
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008002	physical activity measurement
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004341	body fat distribution
EFO:0004312	vital capacity
EFO:0009718	peak expiratory flow
EFO:0004314	forced expiratory volume
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0005674	white matter microstructure measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, decreases expression	5
Ozone	affects expression, increases abundance, affects cotreatment, increases oxidation	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	decreases expression	1
ochratoxin A	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
beta-methylcholine	affects expression	1
avobenzone	increases expression	1
corosolic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
NSC 689534	affects binding, increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases oxidation	1
Air Pollutants	affects expression, increases abundance	1
Copper	affects binding, increases expression	1
Doxorubicin	decreases expression	1
Gallic Acid	increases expression	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E2NH	HAP1 UQCC1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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