ASPSCR1

Summary

ASPSCR1 (ASPSCR1 tether for SLC2A4, UBX domain containing, HGNC:13825) is a protein-coding gene on chromosome 17q25.3, encoding Tether containing UBX domain for GLUT4 (Q9BZE9). Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin.

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found.

Source: NCBI Gene 79058 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 142 total
• Phenotypes (HPO): 2
• MANE Select transcript: NM_024083

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13825
Approved symbol	ASPSCR1
Name	ASPSCR1 tether for SLC2A4, UBX domain containing
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	ASPS, ASPL, UBXD9, UBXN9, TUG
Ensembl gene	ENSG00000169696
Ensembl biotype	protein_coding
OMIM	606236
Entrez	79058

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 17 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000306729, ENST00000306739, ENST00000344865, ENST00000577733, ENST00000578236, ENST00000578361, ENST00000579684, ENST00000580534, ENST00000581484, ENST00000581608, ENST00000581647, ENST00000582019, ENST00000582355, ENST00000582404, ENST00000583142, ENST00000583503, ENST00000583693, ENST00000583744, ENST00000584454, ENST00000585140, ENST00000585274, ENST00000889825, ENST00000889826, ENST00000889827, ENST00000889828, ENST00000889829, ENST00000889830, ENST00000911386, ENST00000948950

RefSeq mRNA: 3 — MANE Select: NM_024083 NM_001251888, NM_001330528, NM_024083

CCDS: CCDS11796, CCDS58611, CCDS82222

Canonical transcript exons

ENST00000306739 — 16 exons

Exon	Start	End
ENSE00003461904	82016476	82016527
ENSE00003476092	82012231	82012283
ENSE00003496429	81985507	81985607
ENSE00003510430	82017309	82017406
ENSE00003541537	81996420	81996846
ENSE00003565628	82016800	82016869
ENSE00003566036	82011543	82011605
ENSE00003587185	81995992	81996065
ENSE00003611639	81983554	81983668
ENSE00003612305	82010802	82010868
ENSE00003620714	82016941	82017113
ENSE00003630959	82009037	82009191
ENSE00003653212	82009486	82009567
ENSE00003653248	81979184	81979239
ENSE00003674227	81994821	81994878
ENSE00003850308	81977629	81977748

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 95.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.5265 / max 603.5972, expressed in 1811 samples.

FANTOM5 promoters (46 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163387	12.1520	1810
163425	2.1584	63
163386	0.6974	444
163420	0.4144	59
163430	0.3538	61
163419	0.3510	57
163421	0.2355	57
163424	0.2330	59
163443	0.1983	10
163437	0.1413	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	95.24	gold quality
apex of heart	UBERON:0002098	94.44	gold quality
adenohypophysis	UBERON:0002196	94.18	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.31	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.31	gold quality
right lobe of thyroid gland	UBERON:0001119	93.09	gold quality
left lobe of thyroid gland	UBERON:0001120	92.68	gold quality
pituitary gland	UBERON:0000007	92.63	gold quality
cerebellar hemisphere	UBERON:0002245	92.58	gold quality
gastrocnemius	UBERON:0001388	92.54	gold quality
cerebellar cortex	UBERON:0002129	92.51	gold quality
metanephros cortex	UBERON:0010533	92.35	gold quality
right testis	UBERON:0004534	92.22	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.02	gold quality
left testis	UBERON:0004533	91.86	gold quality
mucosa of transverse colon	UBERON:0004991	91.75	gold quality
muscle of leg	UBERON:0001383	91.34	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.30	gold quality
body of stomach	UBERON:0001161	90.95	gold quality
right frontal lobe	UBERON:0002810	90.87	gold quality
thyroid gland	UBERON:0002046	90.73	gold quality
granulocyte	CL:0000094	90.68	gold quality
right lung	UBERON:0002167	90.45	gold quality
cerebellum	UBERON:0002037	90.40	gold quality
upper lobe of left lung	UBERON:0008952	90.40	gold quality
skin of leg	UBERON:0001511	90.09	gold quality
anterior cingulate cortex	UBERON:0009835	90.08	gold quality
skin of abdomen	UBERON:0001416	89.94	gold quality
cingulate cortex	UBERON:0003027	89.91	gold quality
right adrenal gland	UBERON:0001233	89.60	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	17.36
E-ANND-3	yes	11.30

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TFE3

Literature-anchored findings (GeneRIF, showing 19)

• Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma (PMID:18176180)
• Immuno-detection of TFE3 and RT-PCR-based identification of ASPL/TFE3 fusion transcripts are powerful tools in the diagnosis of alveolar soft part sarcoma. (PMID:21279521)
• In alveolar soft part sarcomas with unusual locations or histology, we consider that the detection of the ASPSCR1-TFE3 fusion transcript would be the highly effective diagnostic technique. (PMID:21835426)
• Data support a model in which TUG controls p97 oligomeric status at a particular location in the early secretory pathway and in which this process regulates membrane trafficking in various cell types. (PMID:22207755)
• Results support a gain-of-function role for ASPSCR1-TFE3 contributing to proliferation and survival of cancer cells. (PMID:23288701)
• Promotes methylation of VCP by METTL21D (PMID:23349634)
• ASPL is a cofactor of the hexameric ATPase complex, known as p97. The central area in ASPL, containing both a SHP box and a UBX domain, is required for binding to the p97 N-domain. (PMID:25078495)
• A conditional expression in mice of the fusion gene ASPSCR1-TFE3 from human alveolar soft part sarcoma (ASPS) generated a model that recapitulates the human tumor histologically and by expression profile. (PMID:25453902)
• Studies indicate that alveolar soft part sarcoma showed a specific chromosomal alteration, der(17)t(X:17)(p11:q25), resulting in the fusion of the TFE3 transcription factor gene (Xp11) with alveolar soft part sarcoma critical region 1 (ASPSCR1) at 17q25. (PMID:26516944)
• These results show that ASPL-TFE3 regulates cell cycle progression and induces cellular senescence by up-regulating p21 expression. (PMID:27673450)
• ASPL efficiently promotes p97 hexamer disassembly, resulting in the formation of stable p97:ASPL. Overproduction of ASPL disrupts p97 hexamer function in endoplasmic reticulum-associated protein degradation. (PMID:27762274)
• By morphologic, immunohistochemical, genetic, and prognostic similarities, alveolar soft-part sarcoma with the ASPSCR1-TFE3 gene fusion has a closer relationship with Xp11 neoplasm with melanocytic differentiation/TFE3 rearrangement-associated PEComa/melanotic Xp11 translocation renal cancer/melanotic Xp11 neoplasm (PMID:29604926)
• Common mode of remodeling of human and Arabidopsis thaliana AAA ATPases p97/CDC48 by their disassembling cofactors ASPL/PUX1 has been described. (PMID:31648844)
• Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma. (PMID:34489456)
• Ubiquitin-like processing of TUG proteins as a mechanism to regulate glucose uptake and energy metabolism in fat and muscle. (PMID:36246906)
• Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL facilitates posttranslational methylation by METTL21D. (PMID:36656859)
• The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL. (PMID:37731227)
• PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma. (PMID:37936565)
• UBXN9 inhibits the RNA exosome function to promote T cell control of liver tumorigenesis. (PMID:38051955)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	aspscr1	ENSDARG00000105321
mus_musculus	Aspscr1	ENSMUSG00000025142
rattus_norvegicus	Aspscr1	ENSRNOG00000036678
drosophila_melanogaster	CG33722	FBGN0064126
caenorhabditis_elegans		WBGENE00007100

Paralogs (1): UBXN6 (ENSG00000167671)

Protein

Protein identifiers

Tether containing UBX domain for GLUT4 — Q9BZE9 (reviewed: Q9BZE9)

Alternative names: Alveolar soft part sarcoma chromosomal region candidate gene 1 protein, Alveolar soft part sarcoma locus, Renal papillary cell carcinoma protein 17, UBX domain-containing protein 9

All UniProt accessions (9): C9JAL9, Q9BZE9, J3KRF7, J3KRG1, J3KRY8, J3QL04, J3QR12, J3QR50, J3QRW3

UniProt curated annotations — full annotation on UniProt →

Function. Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface. Enhances VCP methylation catalyzed by VCPKMT.

Subunit / interactions. Interacts with GLUT4. Interacts with VCPKMT. Interacts with VCP.

Subcellular location. Endomembrane system. Endoplasmic reticulum-Golgi intermediate compartment membrane. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas.

Disease relevance. A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein. A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BZE9-1	1	yes
Q9BZE9-2	2
Q9BZE9-3	3
Q9BZE9-4	4

RefSeq proteins (3): NP_001238817, NP_001317457, NP_076988* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001012	UBX_dom	Domain
IPR021569	TUG-UBL1	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR059238	UBX1_UBXN9	Domain

Pfam: PF00789, PF11470

UniProt features (44 total): helix 8, strand 7, compositionally biased region 5, modified residue 5, splice variant 5, sequence variant 3, region of interest 3, sequence conflict 2, turn 2, initiator methionine 1, chain 1, site 1, domain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5IFS	X-RAY DIFFRACTION	2.46
7OAT	X-RAY DIFFRACTION	3
5IFW	X-RAY DIFFRACTION	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZE9-F1	72.70	0.37

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 311–312 (breakpoint for translocation to form aspscr1-tfe3)

Post-translational modifications (5): 2, 184, 275, 500, 502

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 138 (showing top): ELVIDGE_HYPOXIA_DN, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, MODULE_511, REACTOME_MEMBRANE_TRAFFICKING, MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_5, GOBP_D_GLUCOSE_IMPORT, CHIANG_LIVER_CANCER_SUBCLASS_INTERFERON_DN, GOBP_CARBOHYDRATE_HOMEOSTASIS, CAIRO_HEPATOBLASTOMA_UP, GOBP_REGULATION_OF_TRANSPORT, BONOME_OVARIAN_CANCER_POOR_SURVIVAL_DN, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_TRANSMEMBRANE_TRANSPORT, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP

GO Biological Process (4): intracellular protein transport (GO:0006886), positive regulation of protein modification process (GO:0031401), glucose homeostasis (GO:0042593), regulation of D-glucose import across plasma membrane (GO:0046324)

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

GO Cellular Component (11): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), endomembrane system (GO:0012505), vesicle membrane (GO:0012506), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Membrane Trafficking	1
Vesicle-mediated transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cytoplasm	2
plasma membrane	2
intracellular protein localization	1
protein transport	1
intracellular transport	1
regulation of protein modification process	1
protein modification process	1
positive regulation of protein metabolic process	1
carbohydrate homeostasis	1
regulation of D-glucose transmembrane transport	1
D-glucose import across plasma membrane	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
cytoplasmic side of membrane	1
vacuole	1
organelle membrane	1
vesicle	1
endoplasmic reticulum-Golgi intermediate compartment	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

858 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASPSCR1	TFE3	P19532	985
ASPSCR1	PRCC	Q92733	967
ASPSCR1	SFPQ	P23246	824
ASPSCR1	CLTC	Q00610	820
ASPSCR1	NONO	P30807	715
ASPSCR1	TBC1D25	Q3MII6	697
ASPSCR1	VCP	P55072	691
ASPSCR1	SLC2A4	P14672	679
ASPSCR1	UBXN7	O94888	624
ASPSCR1	CLCN5	P51795	586
ASPSCR1	LUC7L3	O95232	581
ASPSCR1	TFEB	P19484	576
ASPSCR1	UBXN2A	P68543	555
ASPSCR1	NSFL1C	Q9UNZ2	548
ASPSCR1	RBM10	P98175	542

IntAct

120 interactions, top by confidence:

A	B	Type	Score
NSFL1C	VCP	psi-mi:“MI:0914”(association)	0.970
ASPSCR1	VCP	psi-mi:“MI:0915”(physical association)	0.960
VCP	ASPSCR1	psi-mi:“MI:0915”(physical association)	0.960
ASPSCR1	VCP	psi-mi:“MI:0914”(association)	0.960
ASPSCR1	VCP	psi-mi:“MI:2364”(proximity)	0.960
VCP	ASPSCR1	psi-mi:“MI:2364”(proximity)	0.960
VCP	ASPSCR1	psi-mi:“MI:0914”(association)	0.960

BioGRID (170): ASPSCR1 (Two-hybrid), ASPSCR1 (Two-hybrid), ASPSCR1 (Two-hybrid), ASPSCR1 (Two-hybrid), ASPSCR1 (Two-hybrid), KRTAP10-8 (Two-hybrid), NOTCH2NL (Two-hybrid), ASPSCR1 (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), ASPSCR1 (Two-hybrid)

ESM2 similar proteins: A4D2P6, A5PJV8, A6NFD8, D4AE48, O00268, O00287, O35274, O35779, O43566, P04198, P12755, P55199, Q08DA0, Q0D2I5, Q2KJ58, Q504T8, Q5XKK7, Q60698, Q61976, Q6NZ67, Q6P582, Q6R891, Q6T4P5, Q7Z6J2, Q80YR4, Q86UD0, Q86UK7, Q8BXL9, Q8CEG5, Q8R4T5, Q8TF61, Q8VCG9, Q969F2, Q969G9, Q96HZ4, Q96SB3, Q99PV5, Q9BQ61, Q9BUN5, Q9BZE9

Diamond homologs: Q8VBT9, Q9BZE9, Q2KIJ6, Q8WTJ4, Q99PL6, Q9BZV1, Q9LK22, Q9ZU93

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ASPSCR1	up-regulates	VCPKMT	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Dengue Virus Genome Translation and Replication	6	27.6×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	5	11.3×	8e-03
ubiquitin-dependent protein catabolic process	7	6.5×	9e-03
proteasome-mediated ubiquitin-dependent protein catabolic process	9	5.9×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	99
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3476 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81977746:CAG:C	donor_loss	1.0000
17:81977747:AG:A	donor_loss	1.0000
17:81977750:T:G	donor_loss	1.0000
17:81979237:GAA:G	donor_gain	1.0000
17:81979240:G:GG	donor_gain	1.0000
17:81979266:GGTC:G	donor_gain	1.0000
17:81982692:T:G	donor_gain	1.0000
17:81983549:TGCA:T	acceptor_loss	1.0000
17:81983550:GCAG:G	acceptor_loss	1.0000
17:81983552:A:AG	acceptor_gain	1.0000
17:81983553:G:GG	acceptor_gain	1.0000
17:81983646:GCC:G	donor_gain	1.0000
17:81983654:GGGCC:G	donor_gain	1.0000
17:81983669:G:GA	donor_loss	1.0000
17:81983670:T:A	donor_loss	1.0000
17:81985609:T:A	donor_loss	1.0000
17:81995024:G:GT	donor_gain	1.0000
17:82009183:GA:G	donor_gain	1.0000
17:82009185:G:GG	donor_gain	1.0000
17:82009187:GAGCG:G	donor_gain	1.0000
17:82009189:GCG:G	donor_gain	1.0000
17:82009479:A:AG	acceptor_gain	1.0000
17:82009480:C:G	acceptor_gain	1.0000
17:82009482:ACAG:A	acceptor_gain	1.0000
17:82009484:A:AG	acceptor_gain	1.0000
17:82009484:AG:A	acceptor_gain	1.0000
17:82009484:AGGA:A	acceptor_loss	1.0000
17:82009485:G:GT	acceptor_gain	1.0000
17:82009485:GG:G	acceptor_gain	1.0000
17:82009485:GGA:G	acceptor_gain	1.0000

AlphaMissense

3538 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:82017098:T:A	W545R	0.998
17:82017098:T:C	W545R	0.998
17:81979236:T:C	L52P	0.997
17:81983588:T:A	W65R	0.997
17:81983588:T:C	W65R	0.997
17:81983622:T:A	L76Q	0.997
17:81983622:T:C	L76P	0.997
17:82017100:G:C	W545C	0.997
17:82017100:G:T	W545C	0.997
17:81983555:T:C	F54L	0.996
17:81983557:T:A	F54L	0.996
17:81983557:T:G	F54L	0.996
17:81983616:C:A	A74D	0.996
17:81983628:T:A	M78K	0.996
17:81983628:T:G	M78R	0.996
17:81983598:C:A	A68D	0.995
17:81983604:T:C	L70P	0.995
17:82010851:T:C	F407S	0.995
17:81977702:G:A	G19D	0.994
17:81977707:C:A	R21S	0.994
17:81979236:T:A	L52Q	0.994
17:82010815:T:A	V395D	0.994
17:81977687:T:A	V14E	0.993
17:81979188:T:C	L36P	0.993
17:81983622:T:G	L76R	0.993
17:82010839:T:C	L403P	0.993
17:81983594:T:C	F67L	0.992
17:81983596:T:A	F67L	0.992
17:81983596:T:G	F67L	0.992
17:81977686:G:A	V14M	0.991

dbSNP variants (sampled 300 via entrez): RS1000000218 (17:82010996 G>A), RS1000017705 (17:82001539 G>A,C), RS1000036289 (17:81987264 G>A,C,T), RS1000051612 (17:81980190 C>T), RS1000056168 (17:81982820 T>C), RS1000201315 (17:81998506 C>T), RS1000233811 (17:81977504 C>G,T), RS1000288294 (17:81989599 C>T), RS1000475534 (17:81993934 G>A), RS1000511677 (17:82012433 C>G,T), RS1000526989 (17:81992876 G>A), RS1000529964 (17:81985187 T>C), RS1000538601 (17:81997212 C>G), RS1000589702 (17:81997084 G>T), RS1000596788 (17:81993706 C>A)

Disease associations

OMIM: gene MIM:606236 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0001442	Typified by somatic mosaicism
HP:0012218	Alveolar soft part sarcoma

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST007429_135	Lung function (FVC)	9.000000e-21
GCST007432_94	FEV1	6.000000e-11
GCST008362_25	Birth weight	2.000000e-06
GCST008363_7	Offspring birth weight	2.000000e-09
GCST012230_125	Waist-to-hip ratio adjusted for BMI	4.000000e-08
GCST90000025_623	Appendicular lean mass	1.000000e-10
GCST90020028_1290	Hip circumference adjusted for BMI	2.000000e-10
GCST90020028_1291	Hip circumference adjusted for BMI	2.000000e-08
GCST90020028_1292	Hip circumference adjusted for BMI	2.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004980	appendicular lean mass
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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	2
FR900359	affects phosphorylation	1
bisphenol A	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Indomethacin	affects cotreatment, increases expression	1
Lead	decreases expression	1
Methapyrilene	decreases methylation	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression, increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

9 cell lines: 9 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_6997	FU-UR-1	Cancer cell line	Male
CVCL_E2T7	NCC-ASPS2-C1	Cancer cell line	Male
CVCL_R854	S-TFE	Cancer cell line	Female
CVCL_S737	ASPS-KY	Cancer cell line	Female
CVCL_S738	ASPS-1	Cancer cell line	Female
CVCL_SD68	HAP1 ASPSCR1 (-) 1	Cancer cell line	Male
CVCL_SD69	HAP1 ASPSCR1 (-) 2	Cancer cell line	Male
CVCL_SD70	HAP1 ASPSCR1 (-) 3	Cancer cell line	Male
CVCL_ZZ81	NCC-ASPS1-C1	Cancer cell line	Female

Clinical trials (associated diseases)

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